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Gene: TFAP2A (transcription factor AP-2 alpha) Homo sapiens

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Symbol:

TFAP2A

Name:

transcription factor AP-2 alpha

RGD ID:

1321067

HGNC Page

HGNC:11742

Description:

Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in several processes, including positive regulation of biomineral tissue development; regulation of DNA-templated transcription; and sensory organ morphogenesis. Located in nucleoplasm. Implicated in branchiooculofacial syndrome. Biomarker of dilated cardiomyopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

activating enhancer-binding protein 2-alpha; activator protein 2; AP-2; AP-2 transcription factor; AP-2alpha; AP2-alpha; AP2TF; BOFS; FLJ51761; TFAP2; transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); transcription factor AP-2-alpha

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tfap2a (transcription factor AP-2, alpha)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther
Rattus norvegicus (Norway rat):	Tfap2a (transcription factor AP-2 alpha)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Tfap2a (transcription factor AP-2 alpha)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TFAP2A (transcription factor AP-2 alpha)	NCBI	Ortholog
Canis lupus familiaris (dog):	TFAP2A (transcription factor AP-2 alpha)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tfap2a (transcription factor AP-2 alpha)	NCBI	Ortholog
Sus scrofa (pig):	TFAP2A (transcription factor AP-2 alpha)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	TFAP2A (transcription factor AP-2 alpha)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tfap2a (transcription factor AP-2 alpha)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tfap2a (transcription factor AP-2 alpha)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tfap2a (transcription factor AP-2, alpha)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tfap2a (transcription factor AP-2 alpha)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	aptf-1	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	TfAP-2	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	aptf-2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	tfap2a	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tfap2a.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tfap2a.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	10,396,677 - 10,419,659 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	10,393,186 - 10,419,659 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	10,396,910 - 10,419,892 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	10,504,902 - 10,527,783 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	10,506,384 - 10,523,252	NCBI
Celera	6	11,625,394 - 11,648,276 (-)	NCBI		Celera
Cytogenetic Map	6	p24.3	NCBI
HuRef	6	10,272,671 - 10,295,552 (-)	NCBI		HuRef
CHM1_1	6	10,399,160 - 10,422,046 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	10,264,407 - 10,287,386 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	dilated cardiomyopathy		IEP		1578494	protein:increased expression:myocardium	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	amblyopia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Amblyopia	ClinVar	PMID:25741868
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:21204207 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:19685247 and PMID:25741868
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:19685247
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:25590586
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:19764023 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:25741868 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:21204207 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: TFAP2A-related condition	ClinVar	PMID:23578821 and PMID:25741868
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:10767004 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:21204207 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:21204207 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:20358615 and PMID:7747785
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:10767004 more ...
TFAP2A	Human	branchiooculofacial syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: TFAP2A-related condition	ClinVar	PMID:28492532
TFAP2A	Human	branchiootorenal syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Melnick-Fraser syndrome	ClinVar	PMID:30311386
TFAP2A	Human	cataract 13 with adult i phenotype		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 13 with adult I phenotype	ClinVar	PMID:28492532
TFAP2A	Human	esotropia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Esotropia	ClinVar	PMID:25741868
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21204207 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:18423521 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21204207 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21204207 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:19764023 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21204207 more ...
TFAP2A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
TFAP2A	Human	Hypertelorism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:25741868
TFAP2A	Human	IRIS COLOBOMA		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Iris coloboma	ClinVar	PMID:25741868
TFAP2A	Human	lens subluxation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Lens subluxation	ClinVar	PMID:25741868
TFAP2A	Human	microphthalmia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microphthalmos	ClinVar	PMID:25741868
TFAP2A	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental abnormality	ClinVar
TFAP2A	Human	pathologic nystagmus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nystagmus	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	branchiootorenal syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19685247
TFAP2A	Human	Breast Neoplasms		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:16204029
TFAP2A	Human	Craniofacial Abnormalities		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:14534133 and PMID:19685247
TFAP2A	Human	Eye Abnormalities		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19685247
TFAP2A	Human	kidney disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:19685247

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	orofacial cleft		ISS	Tfap2a (Mus musculus)	13592920	OMIM:119530 more ...	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	branchiooculofacial syndrome		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	(-)-demecolcine	decreases expression	EXP		6480464	Demecolcine results in decreased expression of TFAP2A mRNA	CTD	PMID:23649840
TFAP2A	Human	1,2-dimethylhydrazine	increases expression	ISO	Tfap2a (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of TFAP2A mRNA	CTD	PMID:22206623
TFAP2A	Human	14-Deoxy-11,12-didehydroandrographolide	increases expression	EXP		6480464	14-deoxy-11 and 12-didehydroandrographolide results in increased expression of TFAP2A mRNA	CTD	PMID:22101062
TFAP2A	Human	15-acetyldeoxynivalenol	increases expression	EXP		6480464	15-acetyldeoxynivalenol results in increased expression of TFAP2A mRNA	CTD	PMID:23792671
TFAP2A	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of TFAP2A mRNA	CTD	PMID:26865669 and PMID:28711546
TFAP2A	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2 more ...	CTD	PMID:31326446
TFAP2A	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Tfap2a (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TFAP2A mRNA	CTD	PMID:21570461 and PMID:24058054
TFAP2A	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of TFAP2A mRNA	CTD	PMID:33387578
TFAP2A	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of TFAP2A mRNA	CTD	PMID:19901195 more ...
TFAP2A	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	TFAP2A mRNA affects the reaction [Tetrachlorodibenzodioxin results in increased degradation of AHR protein]	CTD	PMID:16085934
TFAP2A	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	EXP		6480464	tetrabromobisphenol A results in increased expression of TFAP2A mRNA	CTD	PMID:31326446
TFAP2A	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[1-Methyl-3-isobutylxanthine co-treated with Dexamethasone co-treated with INS1 protein] results in increased expression of TFAP2A mRNA and Acrylamide inhibits the reaction [[1-Methyl-3-isobutylxanthine co-treated with Dexamethasone co-treated with INS1 protein] results in increased expression of TFAP2A mRNA]	CTD	PMID:30409764
TFAP2A	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	bisphenol S results in decreased expression of TFAP2A mRNA	CTD	PMID:30951980
TFAP2A	Human	4,4'-sulfonyldiphenol	decreases methylation	ISO	Tfap2a (Mus musculus)	6480464	bisphenol S results in decreased methylation of TFAP2A promoter	CTD	PMID:33297965
TFAP2A	Human	4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine	increases expression	ISO	Tfap2a (Mus musculus)	6480464	fenpropimorph results in increased expression of TFAP2A protein	CTD	PMID:34737147
TFAP2A	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Tfap2a (Mus musculus)	6480464	Fenretinide results in increased expression of TFAP2A mRNA	CTD	PMID:28973697
TFAP2A	Human	5-aza-2'-deoxycytidine	increases expression	EXP		6480464	Decitabine results in increased expression of TFAP2A mRNA and Decitabine results in increased expression of TFAP2A protein	CTD	PMID:16204029
TFAP2A	Human	5-aza-2'-deoxycytidine	multiple interactions	EXP		6480464	[Decitabine results in increased expression of TFAP2A protein] which results in increased susceptibility to Cisplatin and [Decitabine results in increased expression of TFAP2A protein] which results in increased susceptibility to Doxorubicin	CTD	PMID:16204029
TFAP2A	Human	6-propyl-2-thiouracil	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of TFAP2A mRNA	CTD	PMID:24780913
TFAP2A	Human	6-propyl-2-thiouracil	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of TFAP2A mRNA	CTD	PMID:30047161
TFAP2A	Human	acrylamide	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	Acrylamide inhibits the reaction [[1-Methyl-3-isobutylxanthine co-treated with Dexamethasone co-treated with INS1 protein] results in increased expression of TFAP2A mRNA] and Acrylamide promotes the reaction [Dietary Fats results in increased expression of TFAP2A mRNA]	CTD	PMID:30409764
TFAP2A	Human	afimoxifene	decreases expression	EXP		6480464	afimoxifene results in decreased expression of TFAP2A mRNA	CTD	PMID:19901195
TFAP2A	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of TFAP2A gene	CTD	PMID:27153756
TFAP2A	Human	all-trans-retinoic acid	multiple interactions	EXP		6480464	Tretinoin inhibits the reaction [TFAP2A protein binds to DPYSL2 promoter] more ...	CTD	PMID:17229153 and PMID:17318229
TFAP2A	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of TFAP2A mRNA	CTD	PMID:17138961 more ...
TFAP2A	Human	all-trans-retinoic acid	affects localization	EXP		6480464	Tretinoin affects the localization of TFAP2A protein	CTD	PMID:17229153
TFAP2A	Human	alpha-Zearalanol	multiple interactions	ISO	Tfap2a (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of TFAP2A mRNA	CTD	PMID:35163327
TFAP2A	Human	amitrole	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Amitrole results in decreased expression of TFAP2A mRNA	CTD	PMID:30047161
TFAP2A	Human	antimycin A	decreases expression	EXP		6480464	Antimycin A results in decreased expression of TFAP2A mRNA	CTD	PMID:33512557
TFAP2A	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of TFAP2A mRNA	CTD	PMID:24449571
TFAP2A	Human	Arg-Gly-Asp	decreases expression	EXP		6480464	arginyl-glycyl-aspartic acid results in decreased expression of TFAP2A protein	CTD	PMID:37027338
TFAP2A	Human	arotinoid acid	multiple interactions	EXP		6480464	[4-(2-(5 more ...	CTD	PMID:34480604
TFAP2A	Human	arsenite(3-)	decreases methylation	EXP		6480464	arsenite results in decreased methylation of TFAP2A promoter	CTD	PMID:23974009
TFAP2A	Human	belinostat	increases expression	EXP		6480464	belinostat results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	belinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	benzo[a]pyrene	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of TFAP2A mRNA	CTD	PMID:22228805
TFAP2A	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of TFAP2A mRNA	CTD	PMID:32234424
TFAP2A	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of TFAP2A 3' UTR more ...	CTD	PMID:27901495
TFAP2A	Human	benzo[a]pyrene diol epoxide I	increases expression	EXP		6480464	7 more ...	CTD	PMID:17944540
TFAP2A	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397 and PMID:20018196
TFAP2A	Human	bisphenol A	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TFAP2A mRNA	CTD	PMID:25181051
TFAP2A	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of TFAP2A gene	CTD	PMID:31601247
TFAP2A	Human	bisphenol A	affects methylation	ISO	Tfap2a (Mus musculus)	6480464	bisphenol A affects the methylation of TFAP2A promoter	CTD	PMID:27334623
TFAP2A	Human	Bisphenol A diglycidyl ether	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	bisphenol A diglycidyl ether inhibits the reaction [Cytarabine results in increased expression of TFAP2A mRNA]	CTD	PMID:23264188
TFAP2A	Human	bisphenol F	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	bisphenol F results in decreased expression of TFAP2A mRNA	CTD	PMID:30951980
TFAP2A	Human	butan-1-ol	multiple interactions	EXP		6480464	[[Gasoline co-treated with 1-Butanol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of TFAP2A mRNA	CTD	PMID:29432896
TFAP2A	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of TFAP2A mRNA	CTD	PMID:26079696
TFAP2A	Human	Butylbenzyl phthalate	affects localization	EXP		6480464	butylbenzyl phthalate affects the localization of TFAP2A protein	CTD	PMID:22552774
TFAP2A	Human	Butylbenzyl phthalate	multiple interactions	EXP		6480464	[butylbenzyl phthalate promotes the reaction [TFAP2A protein binds to HDAC6 promoter]] which results in increased expression of HDAC6 mRNA more ...	CTD	PMID:22552774
TFAP2A	Human	cadmium atom	decreases activity	ISO	Tfap2a (Mus musculus)	6480464	Cadmium results in decreased activity of TFAP2A protein	CTD	PMID:33642518
TFAP2A	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of TFAP2A mRNA	CTD	PMID:26485663
TFAP2A	Human	cannabidiol	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	T 0070907 inhibits the reaction [Cannabidiol analog results in increased expression of TFAP2A mRNA]	CTD	PMID:30382123
TFAP2A	Human	cannabidiol	increases expression	ISO	Tfap2a (Mus musculus)	6480464	Cannabidiol analog results in increased expression of TFAP2A mRNA	CTD	PMID:30382123
TFAP2A	Human	carboplatin	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Carboplatin	CTD	PMID:16204029
TFAP2A	Human	CHIR 99021	multiple interactions	EXP		6480464	[4-(2-(5 more ...	CTD	PMID:34480604
TFAP2A	Human	chlorpyrifos	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of TFAP2A mRNA	CTD	PMID:32715474
TFAP2A	Human	chlorpyrifos	increases expression	ISO	Tfap2a (Mus musculus)	6480464	Chlorpyrifos results in increased expression of TFAP2A mRNA	CTD	PMID:37019170
TFAP2A	Human	choline	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TFAP2A gene	CTD	PMID:20938992
TFAP2A	Human	cidofovir anhydrous	decreases expression	EXP		6480464	Cidofovir results in decreased expression of TFAP2A mRNA	CTD	PMID:25596134
TFAP2A	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of TFAP2A protein	CTD	PMID:16204029
TFAP2A	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of TFAP2A mRNA	CTD	PMID:25596134
TFAP2A	Human	cisplatin	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Cisplatin	CTD	PMID:16204029 and PMID:21489314
TFAP2A	Human	cisplatin	affects response to substance	EXP		6480464	TFAP2A protein affects the susceptibility to Cisplatin	CTD	PMID:16217747
TFAP2A	Human	cisplatin	multiple interactions	EXP		6480464	[decitabine results in increased expression of TFAP2A protein] which results in increased susceptibility to Cisplatin and [TFAP2A protein co-treated with TP53 gene mutant form] results in decreased susceptibility to Cisplatin	CTD	PMID:16204029 and PMID:21489314
TFAP2A	Human	clodronic acid	decreases expression	EXP		6480464	Clodronic Acid results in decreased expression of TFAP2A mRNA	CTD	PMID:25596134
TFAP2A	Human	clomiphene	increases expression	EXP		6480464	Clomiphene results in increased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	cortisol	multiple interactions	EXP		6480464	[4-(2-(5 more ...	CTD	PMID:34480604
TFAP2A	Human	coumarin	increases phosphorylation	EXP		6480464	coumarin results in increased phosphorylation of TFAP2A protein	CTD	PMID:35688186
TFAP2A	Human	Cuprizon	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Cuprizone results in increased expression of TFAP2A mRNA	CTD	PMID:27523638
TFAP2A	Human	cycloheximide	decreases stability	EXP		6480464	Cycloheximide results in decreased stability of TFAP2A protein	CTD	PMID:36576707
TFAP2A	Human	cycloheximide	multiple interactions	EXP		6480464	LINC-ROR promotes the reaction [Cycloheximide results in decreased stability of TFAP2A protein]	CTD	PMID:36576707
TFAP2A	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of TFAP2A mRNA	CTD	PMID:25596134
TFAP2A	Human	cytarabine	increases expression	ISO	Tfap2a (Mus musculus)	6480464	Cytarabine results in increased expression of TFAP2A mRNA	CTD	PMID:23264188
TFAP2A	Human	cytarabine	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	bisphenol A diglycidyl ether inhibits the reaction [Cytarabine results in increased expression of TFAP2A mRNA]	CTD	PMID:23264188
TFAP2A	Human	decabromodiphenyl ether	increases expression	EXP		6480464	decabromobiphenyl ether results in increased expression of TFAP2A mRNA	CTD	PMID:31326446
TFAP2A	Human	dexamethasone	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[1-Methyl-3-isobutylxanthine co-treated with Dexamethasone co-treated with INS1 protein] results in increased expression of TFAP2A mRNA and Acrylamide inhibits the reaction [[1-Methyl-3-isobutylxanthine co-treated with Dexamethasone co-treated with INS1 protein] results in increased expression of TFAP2A mRNA]	CTD	PMID:30409764
TFAP2A	Human	dibutyl phthalate	affects localization	EXP		6480464	Dibutyl Phthalate affects the localization of TFAP2A protein	CTD	PMID:22552774
TFAP2A	Human	dibutyl phthalate	multiple interactions	EXP		6480464	[Dibutyl Phthalate promotes the reaction [TFAP2A protein binds to HDAC6 promoter]] which results in increased expression of HDAC6 mRNA more ...	CTD	PMID:22552774
TFAP2A	Human	diethylstilbestrol	decreases expression	EXP		6480464	Diethylstilbestrol results in decreased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
TFAP2A	Human	doxorubicin	multiple interactions	EXP		6480464	[decitabine results in increased expression of TFAP2A protein] which results in increased susceptibility to Doxorubicin	CTD	PMID:16204029
TFAP2A	Human	doxorubicin	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Doxorubicin	CTD	PMID:16204029
TFAP2A	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of TFAP2A protein	CTD	PMID:16204029
TFAP2A	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	erlotinib hydrochloride	multiple interactions	EXP		6480464	Erlotinib Hydrochloride inhibits the reaction [TFAP2A protein binds to ULBP1 promoter] and Tetradecanoylphorbol Acetate inhibits the reaction [Erlotinib Hydrochloride inhibits the reaction [TFAP2A protein binds to ULBP1 promoter]]	CTD	PMID:21499124 and PMID:21951556
TFAP2A	Human	ethanol	increases expression	EXP		6480464	Ethanol results in increased expression of TFAP2A mRNA	CTD	PMID:28986285
TFAP2A	Human	etoposide	affects response to substance	EXP		6480464	TFAP2A protein affects the susceptibility to Etoposide	CTD	PMID:16217747
TFAP2A	Human	etoposide	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Etoposide	CTD	PMID:16204029
TFAP2A	Human	fenpropidin	increases expression	ISO	Tfap2a (Mus musculus)	6480464	fenpropidine results in increased expression of TFAP2A protein	CTD	PMID:34737147
TFAP2A	Human	flusilazole	increases expression	ISO	Tfap2a (Mus musculus)	6480464	flusilazole results in increased expression of TFAP2A mRNA and flusilazole results in increased expression of TFAP2A protein	CTD	PMID:34737147
TFAP2A	Human	folic acid	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TFAP2A gene	CTD	PMID:20938992
TFAP2A	Human	fulvestrant	increases expression	EXP		6480464	fulvestrant results in increased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of TFAP2A gene	CTD	PMID:31601247
TFAP2A	Human	furan	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	furan results in increased expression of TFAP2A mRNA	CTD	PMID:25539665
TFAP2A	Human	gefitinib	multiple interactions	EXP		6480464	gefitinib inhibits the reaction [TFAP2A protein binds to ULBP1 promoter] and Tetradecanoylphorbol Acetate inhibits the reaction [gefitinib inhibits the reaction [TFAP2A protein binds to ULBP1 promoter]]	CTD	PMID:21499124 and PMID:21951556
TFAP2A	Human	gemcitabine	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Gemcitabine	CTD	PMID:21489314
TFAP2A	Human	gemcitabine	multiple interactions	EXP		6480464	[TFAP2A protein co-treated with TP53 gene mutant form] results in decreased susceptibility to Gemcitabine	CTD	PMID:21489314
TFAP2A	Human	genistein	decreases expression	EXP		6480464	Genistein results in decreased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	gentamycin	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of TFAP2A mRNA	CTD	PMID:33387578
TFAP2A	Human	geraniol	increases expression	EXP		6480464	geraniol results in increased expression of TFAP2A mRNA	CTD	PMID:27683099
TFAP2A	Human	glycidyl methacrylate	increases expression	EXP		6480464	glycidyl methacrylate results in increased expression of TFAP2A protein	CTD	PMID:36641056
TFAP2A	Human	glyphosate	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Glyphosate results in decreased expression of TFAP2A mRNA	CTD	PMID:33713393
TFAP2A	Human	hexestrol	decreases expression	EXP		6480464	Hexestrol results in decreased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	ifosfamide	decreases expression	EXP		6480464	Ifosfamide results in decreased expression of TFAP2A mRNA	CTD	PMID:25596134
TFAP2A	Human	imidacloprid	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[imidacloprid co-treated with Dietary Fats] results in decreased expression of TFAP2A mRNA	CTD	PMID:33487623
TFAP2A	Human	indinavir	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Indinavir results in decreased expression of TFAP2A mRNA	CTD	PMID:17926646
TFAP2A	Human	kahweol	decreases expression	EXP		6480464	kahweol results in decreased expression of TFAP2A mRNA and kahweol results in decreased expression of TFAP2A protein	CTD	PMID:30205135
TFAP2A	Human	L-ascorbic acid	multiple interactions	EXP		6480464	[[Ascorbic Acid co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein co-treated with FGF1 protein co-treated with WNT3A protein co-treated with HGF protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of TFAP2A mRNA	CTD	PMID:34480604
TFAP2A	Human	L-ascorbic acid 2-phosphate	multiple interactions	EXP		6480464	[[ascorbate-2-phosphate co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of TFAP2A mRNA	CTD	PMID:34480604
TFAP2A	Human	L-methionine	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of TFAP2A gene	CTD	PMID:20938992
TFAP2A	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of TFAP2A mRNA	CTD	PMID:35811015
TFAP2A	Human	lipopolysaccharide	multiple interactions	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine inhibits the reaction [Lipopolysaccharides results in increased expression of TFAP2A mRNA]	CTD	PMID:35811015
TFAP2A	Human	manganese atom	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Manganese results in increased expression of TFAP2A protein	CTD	PMID:24845367
TFAP2A	Human	manganese(0)	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Manganese results in increased expression of TFAP2A protein	CTD	PMID:24845367
TFAP2A	Human	mercury dibromide	increases expression	EXP		6480464	mercuric bromide results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	mercury dibromide	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	mestranol	decreases expression	EXP		6480464	Mestranol results in decreased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	methamphetamine	increases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Methamphetamine results in increased expression of TFAP2A mRNA	CTD	PMID:28341135
TFAP2A	Human	methimazole	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Methimazole results in decreased expression of TFAP2A mRNA	CTD	PMID:30047161
TFAP2A	Human	methotrexate	affects expression	ISO	Tfap2a (Mus musculus)	6480464	Methotrexate affects the expression of TFAP2A mRNA	CTD	PMID:18502557
TFAP2A	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of TFAP2A mRNA	CTD	PMID:23179753 and PMID:26272509
TFAP2A	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of TFAP2A mRNA	CTD	PMID:28001369
TFAP2A	Human	methylparaben	decreases expression	EXP		6480464	methylparaben results in decreased expression of TFAP2A mRNA	CTD	PMID:31745603
TFAP2A	Human	mitomycin C	affects response to substance	EXP		6480464	TFAP2A protein affects the susceptibility to Mitomycin	CTD	PMID:16217747
TFAP2A	Human	N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide	multiple interactions	EXP		6480464	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [butylbenzyl phthalate affects the localization of TFAP2A protein] and N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Dibutyl Phthalate affects the localization of TFAP2A protein]	CTD	PMID:22552774
TFAP2A	Human	nickel subsulfide	decreases expression	EXP		6480464	nickel subsulfide results in decreased expression of TFAP2A mRNA	CTD	PMID:12760830
TFAP2A	Human	Octicizer	decreases expression	EXP		6480464	2-ethylhexyldiphenylphosphate results in decreased expression of TFAP2A protein	CTD	PMID:37027338
TFAP2A	Human	ozone	multiple interactions	EXP		6480464	Ozone promotes the reaction [TFAP2A protein binds to BRS3 promoter] and TFAP2A protein affects the reaction [Ozone results in increased expression of BRS3 mRNA]	CTD	PMID:17355223
TFAP2A	Human	ozone	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	Ozone promotes the reaction [[TFAP2A protein binds to CTNNAL1 protein] which results in increased expression of CTNNAL1 mRNA]	CTD	PMID:22359570
TFAP2A	Human	ozone	increases activity	EXP		6480464	Ozone results in increased activity of TFAP2A protein	CTD	PMID:17355223
TFAP2A	Human	p-chloromercuribenzoic acid	increases expression	EXP		6480464	p-Chloromercuribenzoic Acid results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	p-chloromercuribenzoic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	paclitaxel	increases response to substance	EXP		6480464	TFAP2A protein results in increased susceptibility to Paclitaxel	CTD	PMID:16204029
TFAP2A	Human	paclitaxel	increases expression	EXP		6480464	Paclitaxel results in increased expression of TFAP2A protein	CTD	PMID:16204029
TFAP2A	Human	panobinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	panobinostat	increases expression	EXP		6480464	panobinostat results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of TFAP2A mRNA	CTD	PMID:26690555
TFAP2A	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of TFAP2A mRNA	CTD	PMID:29067470
TFAP2A	Human	paraquat	increases expression	EXP		6480464	Paraquat results in increased expression of TFAP2A mRNA	CTD	PMID:35182771
TFAP2A	Human	paroxetine	increases expression	EXP		6480464	Paroxetine results in increased expression of TFAP2A protein	CTD	PMID:28844482
TFAP2A	Human	perfluorohexanesulfonic acid	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	perfluorohexanesulfonic acid results in decreased expression of TFAP2A mRNA	CTD	PMID:37995155
TFAP2A	Human	perfluorooctanoic acid	multiple interactions	ISO	Tfap2a (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of TFAP2A mRNA	CTD	PMID:35163327
TFAP2A	Human	phenylmercury acetate	increases expression	EXP		6480464	Phenylmercuric Acetate results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	phorbol 13-acetate 12-myristate	multiple interactions	EXP		6480464	Tetradecanoylphorbol Acetate inhibits the reaction [Erlotinib Hydrochloride inhibits the reaction [TFAP2A protein binds to ULBP1 promoter]] and Tetradecanoylphorbol Acetate inhibits the reaction [gefitinib inhibits the reaction [TFAP2A protein binds to ULBP1 promoter]]	CTD	PMID:21499124 and PMID:21951556
TFAP2A	Human	picoxystrobin	decreases expression	EXP		6480464	picoxystrobin results in decreased expression of TFAP2A mRNA	CTD	PMID:33512557
TFAP2A	Human	pirinixic acid	increases expression	ISO	Tfap2a (Mus musculus)	6480464	pirinixic acid results in increased expression of TFAP2A mRNA	CTD	PMID:18445702
TFAP2A	Human	raloxifene	increases expression	EXP		6480464	Raloxifene Hydrochloride results in increased expression of TFAP2A mRNA	CTD	PMID:26865669
TFAP2A	Human	raloxifene	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[Streptozocin co-treated with Raloxifene Hydrochloride] results in increased expression of TFAP2A protein	CTD	PMID:23471663
TFAP2A	Human	resveratrol	multiple interactions	EXP		6480464	resveratrol results in increased localization of and results in increased activity of TFAP2A protein	CTD	PMID:16488535
TFAP2A	Human	rotenone	decreases expression	EXP		6480464	Rotenone results in decreased expression of TFAP2A mRNA	CTD	PMID:33512557
TFAP2A	Human	rottlerin	multiple interactions	EXP		6480464	rottlerin inhibits the reaction [TFAP2A protein binds to ULBP1 promoter]	CTD	PMID:21499124
TFAP2A	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine inhibits the reaction [Lipopolysaccharides results in increased expression of TFAP2A mRNA]	CTD	PMID:35811015
TFAP2A	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386 and PMID:34480604
TFAP2A	Human	sertraline	increases expression	EXP		6480464	Sertraline results in increased expression of TFAP2A protein	CTD	PMID:28844482
TFAP2A	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of TFAP2A mRNA	CTD	PMID:38568856
TFAP2A	Human	spiroxamine	increases expression	ISO	Tfap2a (Mus musculus)	6480464	spiroxamine results in increased expression of TFAP2A protein	CTD	PMID:34737147
TFAP2A	Human	stavudine	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Stavudine results in decreased expression of TFAP2A mRNA	CTD	PMID:17926646
TFAP2A	Human	streptozocin	multiple interactions	ISO	Tfap2a (Rattus norvegicus)	6480464	MFN2 protein mutant form inhibits the reaction [Streptozocin promotes the reaction [TFAP2A protein binds to COL4A1 promoter]] and Streptozocin promotes the reaction [TFAP2A protein binds to COL4A1 promoter]	CTD	PMID:27997345
TFAP2A	Human	streptozocin	multiple interactions	ISO	Tfap2a (Mus musculus)	6480464	[Streptozocin co-treated with Raloxifene Hydrochloride] results in increased expression of TFAP2A protein	CTD	PMID:23471663
TFAP2A	Human	sulfadimethoxine	decreases expression	ISO	Tfap2a (Rattus norvegicus)	6480464	Sulfadimethoxine results in decreased expression of TFAP2A mRNA	CTD	PMID:30047161
TFAP2A	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of TFAP2A mRNA	CTD	PMID:31758290
TFAP2A	Human	testosterone	decreases expression	EXP		6480464	Testosterone results in decreased expression of TFAP2A mRNA	CTD	PMID:33359661
TFAP2A	Human	Tetrachlorobisphenol A	increases expression	EXP		6480464	tetrachlorodian results in increased expression of TFAP2A mRNA	CTD	PMID:31326446
TFAP2A	Human	titanium dioxide	increases methylation	ISO	Tfap2a (Mus musculus)	6480464	titanium dioxide results in increased methylation of TFAP2A gene and titanium dioxide results in increased methylation of TFAP2A promoter	CTD	PMID:35295148
TFAP2A	Human	titanium dioxide	decreases methylation	ISO	Tfap2a (Mus musculus)	6480464	titanium dioxide results in decreased methylation of TFAP2A gene and titanium dioxide results in decreased methylation of TFAP2A promoter	CTD	PMID:35295148
TFAP2A	Human	trichloroethene	increases expression	ISO	Tfap2a (Mus musculus)	6480464	Trichloroethylene results in increased expression of TFAP2A mRNA	CTD	PMID:21135412
TFAP2A	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of TFAP2A mRNA	CTD	PMID:24935251 and PMID:26272509
TFAP2A	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	triclosan	decreases expression	EXP		6480464	Triclosan results in decreased expression of TFAP2A mRNA	CTD	PMID:30510588
TFAP2A	Human	troglitazone	multiple interactions	EXP		6480464	[Troglitazone co-treated with 4-((3-bromophenyl)amino)-6 more ...	CTD	PMID:32822399
TFAP2A	Human	troglitazone	decreases expression	EXP		6480464	Troglitazone results in decreased expression of TFAP2A mRNA and Troglitazone results in decreased expression of TFAP2A protein	CTD	PMID:32822399
TFAP2A	Human	tyrphostin AG 1478	multiple interactions	EXP		6480464	RTKI cpd inhibits the reaction [butylbenzyl phthalate affects the localization of TFAP2A protein] and RTKI cpd inhibits the reaction [Dibutyl Phthalate affects the localization of TFAP2A protein]	CTD	PMID:22552774
TFAP2A	Human	valproic acid	affects expression	ISO	Tfap2a (Mus musculus)	6480464	Valproic Acid affects the expression of TFAP2A mRNA	CTD	PMID:17292431
TFAP2A	Human	valproic acid	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Valproic Acid results in decreased expression of TFAP2A mRNA	CTD	PMID:31445079
TFAP2A	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of TFAP2A mRNA	CTD	PMID:28001369
TFAP2A	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386 and PMID:32623605
TFAP2A	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of TFAP2A mRNA	CTD	PMID:23179753 more ...
TFAP2A	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of TFAP2A mRNA	CTD	PMID:25979313
TFAP2A	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of TFAP2A gene	CTD	PMID:29154799
TFAP2A	Human	vincristine	decreases expression	EXP		6480464	Vincristine results in decreased expression of TFAP2A mRNA	CTD	PMID:23649840
TFAP2A	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of TFAP2A mRNA	CTD	PMID:26272509
TFAP2A	Human	vorinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TFAP2A mRNA	CTD	PMID:27188386
TFAP2A	Human	XAV939	multiple interactions	EXP		6480464	[[ascorbate-2-phosphate co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of TFAP2A mRNA and [[Ascorbic Acid co-treated with Chir 99021 co-treated with XAV939 co-treated with BMP4 protein co-treated with FGF1 protein co-treated with WNT3A protein co-treated with HGF protein] co-treated with [INHBA protein binds to INHBA protein]] results in increased expression of TFAP2A mRNA	CTD	PMID:34480604
TFAP2A	Human	zidovudine	decreases expression	ISO	Tfap2a (Mus musculus)	6480464	Zidovudine results in decreased expression of TFAP2A mRNA	CTD	PMID:17926646

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	anterior neuropore closure	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:8622765	MGI	PMID:8622765
TFAP2A	Human	basement membrane organization	acts_upstream_of_or_within	ISO	MGI:2183192	9068941	PMID:16186342	MGI	PMID:16186342
TFAP2A	Human	bone morphogenesis	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	cell population proliferation	acts_upstream_of	ISO	MGI:3038304	9068941	PMID:16449191	MGI	PMID:16449191
TFAP2A	Human	cellular response to iron ion	involved_in	IDA		150520179	PMID:20808827	UniProt	PMID:20808827
TFAP2A	Human	cornea development in camera-type eye	acts_upstream_of_or_within	ISO	MGI:2183192	9068941	PMID:16186342	MGI	PMID:16186342
TFAP2A	Human	embryonic body morphogenesis	acts_upstream_of_or_within	ISO	MGI:2183192	9068941	PMID:15013802	MGI	PMID:15013802
TFAP2A	Human	embryonic camera-type eye morphogenesis	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:9811866	MGI	PMID:9811866
TFAP2A	Human	embryonic cranial skeleton morphogenesis	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	embryonic cranial skeleton morphogenesis	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:8622765	MGI	PMID:8622765
TFAP2A	Human	embryonic forelimb morphogenesis	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	embryonic pattern specification	acts_upstream_of_or_within	ISO	MGI:3769332	9068941	PMID:17984226	MGI	PMID:17984226
TFAP2A	Human	epidermal growth factor receptor signaling pathway	acts_upstream_of	ISO	MGI:3038304	9068941	PMID:16449191	MGI	PMID:16449191
TFAP2A	Human	epidermis morphogenesis	acts_upstream_of_or_within	ISO	MGI:3038304	9068941	PMID:16449191	MGI	PMID:16449191
TFAP2A	Human	eyelid development in camera-type eye	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	face morphogenesis	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:9811866	MGI	PMID:9811866
TFAP2A	Human	fibroblast migration	acts_upstream_of	ISO	Tfap2a (Mus musculus)	9068941	PMID:19463168	MGI	PMID:19463168
TFAP2A	Human	forebrain neuron development	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:10803593	MGI	PMID:10803593
TFAP2A	Human	forelimb morphogenesis	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:9811866	MGI	PMID:9811866
TFAP2A	Human	inner ear morphogenesis	involved_in	IMP		150520179	PMID:21204207	UniProt	PMID:21204207
TFAP2A	Human	keratinocyte development	acts_upstream_of_or_within	ISO	MGI:106032	9068941	PMID:18824566	MGI	PMID:18824566
TFAP2A	Human	kidney development	involved_in	IMP		150520179	PMID:21204207	UniProt	PMID:21204207
TFAP2A	Human	kidney development	involved_in	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	lens induction in camera-type eye	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:10571739	MGI	PMID:10571739
TFAP2A	Human	lens morphogenesis in camera-type eye	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:18224708 and PMID:9918694	MGI	PMID:18224708 and PMID:9918694
TFAP2A	Human	metanephric nephron development	involved_in	ISO	Tfap2a (Mus musculus)	9068941	PMID:7555706	UniProt	PMID:7555706
TFAP2A	Human	negative regulation of apoptotic process	involved_in	IDA		150520179	PMID:20066163	UniProt	PMID:20066163
TFAP2A	Human	negative regulation of apoptotic process	involved_in	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	negative regulation of cell population proliferation	involved_in	IDA		150520179	PMID:20607706	UniProt	PMID:20607706
TFAP2A	Human	negative regulation of cell population proliferation	acts_upstream_of_or_within	ISO	MGI:3038304	9068941	PMID:16449191	MGI	PMID:16449191
TFAP2A	Human	negative regulation of DNA-templated transcription	involved_in	IMP		150520179	PMID:31146003	ARUK-UCL	PMID:31146003
TFAP2A	Human	negative regulation of DNA-templated transcription	involved_in	IDA		150520179	PMID:20607706	UniProt	PMID:20607706
TFAP2A	Human	negative regulation of epidermal growth factor receptor signaling pathway	acts_upstream_of_or_within	ISO	MGI:3038304	9068941	PMID:16449191	MGI	PMID:16449191
TFAP2A	Human	negative regulation of neuron apoptotic process	acts_upstream_of_or_within	ISO	MGI:104672	9068941	PMID:21539825	MGI	PMID:21539825
TFAP2A	Human	negative regulation of reactive oxygen species metabolic process	involved_in	IDA		150520179	PMID:20066163	UniProt	PMID:20066163
TFAP2A	Human	negative regulation of transcription by competitive promoter binding	involved_in	IMP		150520179	PMID:11278550	UniProt	PMID:11278550
TFAP2A	Human	negative regulation of transcription by competitive promoter binding	involved_in	IDA		150520179	PMID:8321221	UniProt	PMID:8321221
TFAP2A	Human	negative regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:20066163 more ...	UniProt	PMID:20066163 more ...
TFAP2A	Human	nervous system development	involved_in	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	neural crest cell development	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:8622766	MGI	PMID:8622766
TFAP2A	Human	neural tube closure	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:8622766 and PMID:9811866	MGI	PMID:8622766 and PMID:9811866
TFAP2A	Human	neuron apoptotic process	acts_upstream_of	ISO	MGI:104672	9068941	PMID:21539825	MGI	PMID:21539825
TFAP2A	Human	oculomotor nerve formation	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	optic cup structural organization	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	optic vesicle morphogenesis	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	outflow tract morphogenesis	acts_upstream_of_or_within	ISO	MGI:2176682	9068941	PMID:11744375	MGI	PMID:11744375
TFAP2A	Human	positive regulation of bone mineralization	involved_in	IDA		150520179	PMID:19578371	UniProt	PMID:19578371
TFAP2A	Human	positive regulation of DNA-templated transcription	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	positive regulation of DNA-templated transcription	involved_in	IDA		150520179	PMID:12586840	UniProt	PMID:12586840
TFAP2A	Human	positive regulation of fibroblast migration	acts_upstream_of_or_within	ISO	Tfap2a (Mus musculus)	9068941	PMID:19463168	MGI	PMID:19463168
TFAP2A	Human	positive regulation of gene expression	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	positive regulation of neuron apoptotic process	involved_in	IDA		150520179	PMID:20607706	UniProt	PMID:20607706
TFAP2A	Human	positive regulation of tooth mineralization	involved_in	IDA		150520179	PMID:19578371	UniProt	PMID:19578371
TFAP2A	Human	positive regulation of transcription by RNA polymerase II		ISO	Tfap2a (Rattus norvegicus)	9068941		RGD	PMID:21039521 and REF_RGD_ID:5133251
TFAP2A	Human	positive regulation of transcription by RNA polymerase II	acts_upstream_of_or_within	ISO	Tfap2a (Mus musculus)	9068941	PMID:10068641 more ...	MGI	PMID:10068641 more ...
TFAP2A	Human	positive regulation of transcription by RNA polymerase II	involved_in	IBA	FB:FBgn0261953 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	positive regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:11278550 more ...	UniProt	PMID:11278550 more ...
TFAP2A	Human	regulation of cell differentiation	involved_in	IDA		150520179	PMID:20607706	UniProt	PMID:20607706
TFAP2A	Human	regulation of cell population proliferation	involved_in	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	regulation of DNA-templated transcription	involved_in	IEA	InterPro:IPR004979 and InterPro:IPR008121	150520179		InterPro	GO_REF:0000002
TFAP2A	Human	regulation of DNA-templated transcription	acts_upstream_of_or_within	ISO	Tfap2a (Mus musculus)	9068941	PMID:11522791	MGI	PMID:11522791
TFAP2A	Human	regulation of neuron differentiation	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:10842061	MGI	PMID:10842061
TFAP2A	Human	regulation of transcription by RNA polymerase II	acts_upstream_of_or_within	ISO	Tfap2a (Mus musculus)	9068941	PMID:15475956	MGI	PMID:15475956
TFAP2A	Human	response to lipopolysaccharide		ISO	Tfap2a (Rattus norvegicus)	9068941		RGD	PMID:11688998 and REF_RGD_ID:5133263
TFAP2A	Human	retina layer formation	involved_in	IEP		150520179	PMID:20607706	UniProt	PMID:20607706
TFAP2A	Human	roof of mouth development	involved_in	IMP		150520179	PMID:21204207	UniProt	PMID:21204207
TFAP2A	Human	Schwann cell development		ISO	Tfap2a (Rattus norvegicus)	9068941		RGD	PMID:11553286 and REF_RGD_ID:5133264
TFAP2A	Human	sensory organ development	involved_in	ISO	Tfap2a (Mus musculus)	9068941	PMID:7555706	UniProt	PMID:7555706
TFAP2A	Human	sensory perception of sound	involved_in	IMP		150520179	PMID:21204207	UniProt	PMID:21204207
TFAP2A	Human	skeletal system development	involved_in	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	skeletal system morphogenesis	acts_upstream_of_or_within	ISO	MGI:1888387	9068941	PMID:8622765	MGI	PMID:8622765
TFAP2A	Human	skin development	involved_in	ISO	Tfap2a (Mus musculus)	9068941	PMID:7555706	UniProt	PMID:7555706
TFAP2A	Human	skin development	acts_upstream_of_or_within	ISO	MGI:106032	9068941	PMID:18824566	MGI	PMID:18824566
TFAP2A	Human	sympathetic nervous system development	acts_upstream_of_or_within	ISO	MGI:104672	9068941	PMID:21539825	MGI	PMID:21539825
TFAP2A	Human	transcription by RNA polymerase II	acts_upstream_of	ISO	Tfap2a (Mus musculus)	9068941	PMID:11694877	MGI	PMID:11694877
TFAP2A	Human	trigeminal nerve development	involved_in	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	chromatin	located_in	ISA	tfclass:1.3.1	150520179		NTNU_SB	GO_REF:0000113
TFAP2A	Human	clathrin-coated pit	located_in	ISO	Tfap2a (Mus musculus)	9068941	PMID:26437238	MGI	PMID:26437238
TFAP2A	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
TFAP2A	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-8864278 more ...
TFAP2A	Human	nucleus	located_in	IMP		150520179	PMID:12586840	UniProt	PMID:12586840
TFAP2A	Human	nucleus	located_in	IEA	InterPro:IPR004979 and InterPro:IPR008121	150520179		InterPro	GO_REF:0000002
TFAP2A	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
TFAP2A	Human	nucleus	located_in	IDA		150520179	PMID:16236267 more ...	UniProt	PMID:16236267 more ...
TFAP2A	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
TFAP2A	Human	nucleus	is_active_in	IBA	FB:FBgn0261953 more ...	150520179		GO_Central	GO_REF:0000033

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	chromatin binding	enables	ISS	UniProtKB:P34056	150520179		UniProt	GO_REF:0000024
TFAP2A	Human	cis-regulatory region sequence-specific DNA binding	enables	ISO	Tfap2a (Mus musculus)	9068941	PMID:19943855	MGI	PMID:19943855
TFAP2A	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
TFAP2A	Human	DNA binding	enables	IDA		150520179	PMID:16236267	UniProt	PMID:16236267
TFAP2A	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:11278550 and PMID:20808827	UniProt	PMID:11278550 and PMID:20808827
TFAP2A	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	DNA-binding transcription factor activity	enables	IEA	InterPro:IPR004979 and InterPro:IPR008121	150520179		InterPro	GO_REF:0000002
TFAP2A	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:12586840 more ...	UniProt	PMID:12586840 more ...
TFAP2A	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:1.3.1	150520179		NTNU_SB	GO_REF:0000113
TFAP2A	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:11278550 more ...	UniProt	PMID:11278550 more ...
TFAP2A	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	IMP		150520179	PMID:31146003	ARUK-UCL	PMID:31146003
TFAP2A	Human	identical protein binding	enables	IPI	UniProtKB:P05549	150520179	PMID:1998122	UniProt	PMID:1998122
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q86TX2	150520179	PMID:28514442 and PMID:33961781	IntAct	PMID:28514442 and PMID:33961781
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:P06748	150520179	PMID:17318229	IntAct	PMID:17318229
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:P10636	150520179	PMID:10987820	UniProt	PMID:10987820
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q9H4Y5	150520179	PMID:25910212 and PMID:31515488	IntAct	PMID:25910212 and PMID:31515488
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q13064 and UniProtKB:Q9H4Y5	150520179	PMID:25416956	IntAct	PMID:25416956
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:P61244	150520179	PMID:25609649	IntAct	PMID:25609649
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q719H9	150520179	PMID:19115315	UniProt	PMID:19115315
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:P63279	150520179	PMID:12072434 and PMID:24835590	IntAct	PMID:12072434 and PMID:24835590
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q9UM54	150520179	PMID:11447109	UniProt	PMID:11447109
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q09472 and UniProtKB:Q99967-1	150520179	PMID:12586840	UniProt	PMID:12586840
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q09472	150520179	PMID:12586840	IntAct	PMID:12586840
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q99967	150520179	PMID:11694877	UniProt	PMID:11694877
TFAP2A	Human	protein binding	enables	IPI	UniProtKB:Q0VD86 and UniProtKB:Q9H4Y5	150520179	PMID:32296183	IntAct	PMID:32296183
TFAP2A	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IDA		150520179	PMID:21084835 more ...	GO_Central	PMID:21084835 more ...
TFAP2A	Human	RNA polymerase II transcription regulatory region sequence-specific DNA binding	enables	IBA	MGI:104671 more ...	150520179		GO_Central	GO_REF:0000033
TFAP2A	Human	sequence-specific DNA binding		ISO	Tfap2a (Rattus norvegicus)	9068941		RGD	PMID:16806101 and REF_RGD_ID:5133260
TFAP2A	Human	sequence-specific DNA binding	enables	IMP		150520179	PMID:1998122	UniProt	PMID:1998122
TFAP2A	Human	sequence-specific DNA binding	enables	IDA		150520179	PMID:12586840 and PMID:8321221	UniProt	PMID:12586840 and PMID:8321221
TFAP2A	Human	sequence-specific double-stranded DNA binding	enables	IDA		150520179	PMID:28473536	ARUK-UCL	PMID:28473536
TFAP2A	Human	transcription cis-regulatory region binding	enables	IDA		150520179	PMID:12586840 more ...	ARUK-UCL	PMID:12586840 more ...
TFAP2A	Human	transcription coactivator activity	enables	ISO	Tfap2a (Mus musculus)	9068941	PMID:21829553	UniProt	PMID:21829553
TFAP2A	Human	transcription corepressor activity	enables	ISO	Tfap2a (Mus musculus)	9068941	PMID:21829553	UniProt	PMID:21829553
TFAP2A	Human	transcription factor binding		ISO	Egr1 (Rattus norvegicus)	9068941		RGD	PMID:13679060 and REF_RGD_ID:5133261

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	Abnormal pinna morphology		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Abnormal speech pattern		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Abnormality of the dentition		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Agenesis of cerebellar vermis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Anophthalmia		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Aplasia cutis congenita		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Atypical scarring of skin		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Atypical scarring of skin		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Branchial anomaly		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Broad nasal tip		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Broad nasal tip		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Cataract		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Cataract		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Cleft of chin		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Cleft palate		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Cleft upper lip		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Clinodactyly of the 5th finger		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Coloboma		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Conductive hearing impairment		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Conductive hearing impairment		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Cryptorchidism		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Deep philtrum		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Dermal atrophy		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Dermoid cyst		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Dimple chin		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Dolichocephaly		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Dolichocephaly		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Ectopic thymus tissue		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Elbow flexion contracture		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Everted lower lip vermilion		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Facial palsy		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Fingernail dysplasia		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Fusion of middle ear ossicles		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Gastroesophageal reflux		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hamartoma		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hearing impairment		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hemangioma		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	High palate		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Hydronephrosis		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Hyperlordosis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hypernasal speech		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hypernasal speech		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Hypertelorism		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hypoplastic fingernail		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hypoplastic superior helix		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Hypospadias		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Intellectual disability, mild		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Iris coloboma		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Iris coloboma		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Kyphosis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Low posterior hairline		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Low-set ears		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Lower lip pit		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Malar flattening		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Malrotation of colon		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Microcephaly		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Microcornea		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Microdontia		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Micrognathia		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Microphthalmia		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Microtia		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Multicystic kidney dysplasia		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Myopia		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Nasolacrimal duct obstruction		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Nasolacrimal duct obstruction		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Non-midline cleft of the upper lip		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Nystagmus		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Orofacial cleft		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Overfolded helix		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Postauricular pit		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Postauricular pit		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Posteriorly rotated ears		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Posteriorly rotated ears		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Postnatal growth retardation		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Preauricular pit		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Preauricular pit		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Preaxial hand polydactyly		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Preaxial hand polydactyly		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Premature graying of hair		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Premature graying of hair		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Proximal placement of thumb		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Ptosis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Ptosis		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Pyloric stenosis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Renal agenesis		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Renal agenesis		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Renal cyst		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Retinal coloboma		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Seizure		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Short nasal septum		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Short neck		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Short stature		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Short thumb		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Single transverse palmar crease		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Small forehead		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Sparse hair		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Strabismus		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Strabismus		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Supernumerary nipple		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Supraauricular pit		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Supraauricular pit		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Telecanthus		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Tooth agenesis		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Upper lip pit		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	ORPHA:1297
TFAP2A	Human	White forelock		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Wide intermamillary distance		IAGP		8699517		HPO	MIM:113620
TFAP2A	Human	Wide nasal bridge		IAGP		8699517		HPO	ORPHA:1297

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TFAP2A	Human	Abnormality of visual evoked potentials		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormal vision evoked potentials	ClinVar	PMID:25741868
TFAP2A	Human	Amblyopia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Wandering eyes	ClinVar	PMID:25741868
TFAP2A	Human	EEG abnormality		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Electroencephalogram abnormalities	ClinVar	PMID:25741868
TFAP2A	Human	Epicanthus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epicanthus	ClinVar	PMID:25741868
TFAP2A	Human	Esotropia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inward turning cross eyed	ClinVar	PMID:25741868
TFAP2A	Human	High palate		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Increased palatal height	ClinVar	PMID:25741868
TFAP2A	Human	Hypertelorism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:25741868
TFAP2A	Human	Iris coloboma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cat eye	ClinVar	PMID:25741868
TFAP2A	Human	Lens subluxation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Partially dislocated lens	ClinVar	PMID:25741868
TFAP2A	Human	Low-set ears		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Melotia	ClinVar	PMID:25741868
TFAP2A	Human	Microphthalmia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Decreased size of globe of eye	ClinVar	PMID:25741868
TFAP2A	Human	Neurodevelopmental abnormality		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental abnormality	ClinVar
TFAP2A	Human	Nystagmus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nystagmus	ClinVar	PMID:25741868
TFAP2A	Human	Short neck		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Decreased length of neck	ClinVar	PMID:25741868

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Transcription factor AP-2alpha triggers apoptosis in cardiac myocytes.	Muller FU, etal., Cell Death Differ. 2004 May;11(5):485-93.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1587861	PMID:1916817	PMID:1998122	PMID:2010091	PMID:3063603	PMID:7555706	PMID:7559606	PMID:7729426	PMID:8190633	PMID:8321221	PMID:8661133	PMID:8662849
PMID:8889548	PMID:9169421	PMID:9490719	PMID:9520389	PMID:9632747	PMID:9830047	PMID:10037142	PMID:10567358	PMID:10987820	PMID:11278550	PMID:11438643	PMID:11447109
PMID:11604514	PMID:11694877	PMID:11744733	PMID:11973333	PMID:12072434	PMID:12145340	PMID:12163475	PMID:12203368	PMID:12221107	PMID:12226108	PMID:12228234	PMID:12358602
PMID:12475396	PMID:12477932	PMID:12586840	PMID:12595566	PMID:12843180	PMID:12900408	PMID:12960147	PMID:12975361	PMID:14517991	PMID:14551210	PMID:14744778	PMID:15039486
PMID:15331612	PMID:15342781	PMID:15353600	PMID:15498833	PMID:15548692	PMID:15569994	PMID:15671555	PMID:15705965	PMID:15809337	PMID:15864740	PMID:15870067	PMID:15930016
PMID:16108032	PMID:16236267	PMID:16260418	PMID:16288208	PMID:16325581	PMID:16361535	PMID:16497222	PMID:16502414	PMID:16533807	PMID:16636674	PMID:16707488	PMID:16867219
PMID:16946713	PMID:17097614	PMID:17224907	PMID:17318229	PMID:17355223	PMID:17513613	PMID:17556657	PMID:17621592	PMID:17643423	PMID:17651731	PMID:17695722	PMID:17719138
PMID:18029348	PMID:18036196	PMID:18042070	PMID:18275040	PMID:18310298	PMID:18316341	PMID:18358093	PMID:18423521	PMID:18443366	PMID:18515748	PMID:18524853	PMID:18620802
PMID:18639284	PMID:18718911	PMID:18836445	PMID:18843039	PMID:18845787	PMID:18955504	PMID:19074833	PMID:19089912	PMID:19115315	PMID:19154347	PMID:19206157	PMID:19228880
PMID:19274049	PMID:19322201	PMID:19351721	PMID:19363595	PMID:19376641	PMID:19411194	PMID:19443578	PMID:19536824	PMID:19578371	PMID:19654299	PMID:19672266	PMID:19685247
PMID:19742317	PMID:19763255	PMID:19786833	PMID:19906305	PMID:20066163	PMID:20145123	PMID:20301552	PMID:20351096	PMID:20358615	PMID:20376207	PMID:20398657	PMID:20448150
PMID:20459791	PMID:20564234	PMID:20607706	PMID:20634891	PMID:20635357	PMID:20731749	PMID:20805990	PMID:20808827	PMID:20932315	PMID:20943952	PMID:21084835	PMID:21204207
PMID:21250552	PMID:21303946	PMID:21363924	PMID:21375726	PMID:21634087	PMID:21654541	PMID:21659426	PMID:21683068	PMID:21728810	PMID:21777522	PMID:21781438	PMID:21829699
PMID:21850486	PMID:21873635	PMID:21876733	PMID:21940908	PMID:21966377	PMID:21979958	PMID:22182699	PMID:22191992	PMID:22323290	PMID:22359570	PMID:22484487	PMID:22561688
PMID:22575257	PMID:22898364	PMID:23036739	PMID:23151229	PMID:23275444	PMID:23382213	PMID:23578821	PMID:23602572	PMID:23660297	PMID:23660954	PMID:23680675	PMID:23764310
PMID:23811393	PMID:23824909	PMID:23828041	PMID:24163370	PMID:24335623	PMID:24450359	PMID:24529757	PMID:24641171	PMID:24753151	PMID:24835590	PMID:24999758	PMID:25050743
PMID:25063728	PMID:25228645	PMID:25358080	PMID:25416956	PMID:25590586	PMID:25609649	PMID:25625848	PMID:25651508	PMID:25665578	PMID:25669978	PMID:25674231	PMID:25910212
PMID:25953442	PMID:26073327	PMID:26186194	PMID:26344197	PMID:26423947	PMID:26496610	PMID:26780928	PMID:26819314	PMID:27237791	PMID:27499261	PMID:27663566	PMID:27866707
PMID:27880917	PMID:27933721	PMID:28031466	PMID:28085512	PMID:28249010	PMID:28439677	PMID:28473536	PMID:28514442	PMID:28611094	PMID:28749936	PMID:28794006	PMID:28932319
PMID:29665387	PMID:30256193	PMID:30443989	PMID:30700826	PMID:30804502	PMID:30824562	PMID:31020390	PMID:31146003	PMID:31182584	PMID:31337972	PMID:31490282	PMID:31515488
PMID:31534499	PMID:31701656	PMID:31915245	PMID:32015686	PMID:32296183	PMID:32344865	PMID:32362655	PMID:32416067	PMID:32432738	PMID:32462520	PMID:32467991	PMID:32474464
PMID:33000225	PMID:33170430	PMID:33213447	PMID:33580997	PMID:33609534	PMID:33742988	PMID:33753551	PMID:33824285	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34193219
PMID:34210752	PMID:34310873	PMID:34780483	PMID:35198878	PMID:35271311	PMID:35831314	PMID:35850772	PMID:36089195	PMID:36123698	PMID:36129980	PMID:36161699	PMID:36232890
PMID:36373674	PMID:36410635	PMID:36469904	PMID:36574265	PMID:36707053	PMID:37083077	PMID:37330579	PMID:37409559	PMID:37586214	PMID:38219531	PMID:38237728	PMID:38265973
PMID:38280479	PMID:38401701	PMID:38605348	PMID:38890750	PMID:39187936	PMID:39369843

TFAP2A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	10,396,677 - 10,419,659 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	10,393,186 - 10,419,659 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	10,396,910 - 10,419,892 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	10,504,902 - 10,527,783 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	10,506,384 - 10,523,252	NCBI
Celera	6	11,625,394 - 11,648,276 (-)	NCBI		Celera
Cytogenetic Map	6	p24.3	NCBI
HuRef	6	10,272,671 - 10,295,552 (-)	NCBI		HuRef
CHM1_1	6	10,399,160 - 10,422,046 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	10,264,407 - 10,287,386 (-)	NCBI		T2T-CHM13v2.0

Tfap2a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	40,867,278 - 40,891,715 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	40,868,778 - 40,891,852 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	40,713,802 - 40,738,238 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	40,715,302 - 40,738,376 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	40,811,044 - 40,829,192 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	40,727,706 - 40,745,894 (-)	NCBI		MGSCv36	mm8
Celera	13	41,797,334 - 41,815,714 (-)	NCBI		Celera
Cytogenetic Map	13	A3.3	NCBI
cM Map	13	20.01	NCBI

Tfap2a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	24,230,064 - 24,253,219 (+)	NCBI		GRCr8
mRatBN7.2	17	24,028,716 - 24,047,507 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	24,024,432 - 24,047,507 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	23,913,439 - 23,929,006 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	25,516,916 - 25,532,497 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	23,854,421 - 23,869,994 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	24,653,342 - 24,670,457 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	24,654,902 - 24,670,457 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	26,596,839 - 26,634,214 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	30,017,580 - 30,034,852 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	30,020,346 - 30,035,192 (+)	NCBI
Celera	17	23,700,225 - 23,715,767 (+)	NCBI		Celera
Cytogenetic Map	17	p12	NCBI

Tfap2a
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955465	3,882,549 - 3,898,929 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955465	3,877,896 - 3,900,259 (+)	NCBI	ChiLan1.0	ChiLan1.0

TFAP2A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	25,046,932 - 25,064,748 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	21,036,711 - 21,053,926 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	10,237,834 - 10,260,843 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	10,519,625 - 10,541,898 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

TFAP2A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	35	10,157,043 - 10,180,484 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	35	10,157,882 - 10,180,270 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	35	10,170,458 - 10,197,631 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	35	10,260,835 - 10,284,005 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	35	10,261,674 - 10,283,869 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	35	10,091,163 - 10,114,276 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	35	10,131,471 - 10,154,557 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	35	11,458,363 - 11,481,509 (-)	NCBI		UU_Cfam_GSD_1.0

Tfap2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	14,212,794 - 14,243,177 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936534	2,481,806 - 2,499,317 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936534	2,481,804 - 2,518,573 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TFAP2A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	7,221,656 - 7,244,612 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	7,221,654 - 7,244,626 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	7,534,956 - 7,556,586 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TFAP2A
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	61,750,757 - 61,769,041 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666044	10,406,413 - 10,425,011 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tfap2a
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624756	15,418,260 - 15,436,379 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624756	15,413,950 - 15,436,037 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TFAP2A
238 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)	deletion	Branchiooculofacial syndrome [RCV000019532]	Chr6:10404564..10404575 [GRCh38] Chr6:10404797..10404808 [GRCh37] Chr6:6p24.3	pathogenic
NG_016151.1:g.22146T>C	single nucleotide variant	Branchiooculofacial syndrome [RCV000019533]	Chr6:6p24	pathogenic
NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)	indel	Branchiooculofacial syndrome [RCV000019534]	Chr6:10402533..10402549 [GRCh38] Chr6:10402766..10402782 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	single nucleotide variant	Branchiooculofacial syndrome [RCV000019530]\|not provided [RCV001090476]	Chr6:10404509 [GRCh38] Chr6:10404742 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)	single nucleotide variant	Branchiooculofacial syndrome [RCV000019531]	Chr6:10402590 [GRCh38] Chr6:10402823 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys)	single nucleotide variant	Branchiooculofacial syndrome [RCV000019535]	Chr6:10400587 [GRCh38] Chr6:10400820 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)	single nucleotide variant	Branchiooculofacial syndrome [RCV000019536]\|Inborn genetic diseases [RCV000624658]\|not provided [RCV002472933]	Chr6:10404562 [GRCh38] Chr6:10404795 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	copy number gain	See cases [RCV000051896]	Chr6:389423..13474956 [GRCh38] Chr6:389423..13475188 [GRCh37] Chr6:334423..13583167 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	copy number gain	See cases [RCV000051869]	Chr6:106431..18360595 [GRCh38] Chr6:106431..18360826 [GRCh37] Chr6:51431..18468805 [NCBI36] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)	duplication	Branchiooculofacial syndrome [RCV000660299]	Chr6:10409973..10409974 [GRCh38] Chr6:10410206..10410207 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660300]\|not provided [RCV004719923]	Chr6:10404575 [GRCh38] Chr6:10404808 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660303]	Chr6:10404523 [GRCh38] Chr6:10404756 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660307]\|Inborn genetic diseases [RCV001265963]\|not provided [RCV001868178]	Chr6:10402608 [GRCh38] Chr6:10402841 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
NM_001372066.1(TFAP2A):c.1031+63C>T	single nucleotide variant	not provided [RCV001572239]	Chr6:10400385 [GRCh38] Chr6:10400618 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser)	single nucleotide variant	Branchiooculofacial syndrome [RCV000172980]	Chr6:10404623 [GRCh38] Chr6:10404856 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp)	single nucleotide variant	Branchiooculofacial syndrome [RCV000172981]	Chr6:10404631 [GRCh38] Chr6:10404864 [GRCh37] Chr6:6p24.3	pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	copy number gain	See cases [RCV000134022]	Chr6:164360..13339881 [GRCh38] Chr6:164360..13340113 [GRCh37] Chr6:109360..13448092 [NCBI36] Chr6:6p25.3-24.1	pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	copy number loss	See cases [RCV000136132]	Chr6:4068792..13267799 [GRCh38] Chr6:4069026..13268031 [GRCh37] Chr6:4014025..13376010 [NCBI36] Chr6:6p25.2-24.1	pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3	copy number gain	See cases [RCV000138121]	Chr6:152634..15732163 [GRCh38] Chr6:152634..15732394 [GRCh37] Chr6:97634..15840373 [NCBI36] Chr6:6p25.3-22.3	likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	copy number gain	See cases [RCV000138956]	Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33	pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	copy number gain	See cases [RCV000140307]	Chr6:155807..17058414 [GRCh38] Chr6:155807..17058645 [GRCh37] Chr6:100807..17166624 [NCBI36] Chr6:6p25.3-22.3	pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	copy number gain	See cases [RCV000142295]	Chr6:156974..11550817 [GRCh38] Chr6:156974..11551050 [GRCh37] Chr6:101974..11659036 [NCBI36] Chr6:6p25.3-24.2	likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	copy number loss	See cases [RCV000142435]	Chr6:2862640..16697788 [GRCh38] Chr6:2862874..16698019 [GRCh37] Chr6:2807873..16805998 [NCBI36] Chr6:6p25.2-22.3	pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	copy number gain	See cases [RCV000143334]	Chr6:152634..14417003 [GRCh38] Chr6:152634..14417234 [GRCh37] Chr6:97634..14525213 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	copy number gain	See cases [RCV000143698]	Chr6:156974..13081201 [GRCh38] Chr6:156974..13081433 [GRCh37] Chr6:101974..13189419 [NCBI36] Chr6:6p25.3-24.1	likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	copy number loss	See cases [RCV000143782]	Chr6:156974..13855925 [GRCh38] Chr6:156974..13856156 [GRCh37] Chr6:101974..13964135 [NCBI36] Chr6:6p25.3-23	pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_001372066.1(TFAP2A):c.*139T>C	single nucleotide variant	not provided [RCV001575762]	Chr6:10398278 [GRCh38] Chr6:10398511 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp)	single nucleotide variant	Branchiooculofacial syndrome [RCV000677704]	Chr6:10404566 [GRCh38] Chr6:10404799 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1263C>T (p.Asn421=)	single nucleotide variant	not provided [RCV001651175]\|not specified [RCV000251359]	Chr6:10398474 [GRCh38] Chr6:10398707 [GRCh37] Chr6:6p24.3	benign
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	copy number loss	See cases [RCV000240433]	Chr6:204009..11608587 [GRCh37] Chr6:6p25.3-24.1	pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	copy number loss	See cases [RCV000240576]	Chr6:5354402..17950079 [GRCh37] Chr6:6p25.1-22.3	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	copy number gain	See cases [RCV000240460]	Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.242C>G (p.Pro81Arg)	single nucleotide variant	not provided [RCV000488115]	Chr6:10410145 [GRCh38] Chr6:10410378 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.486+1G>T	single nucleotide variant	Branchiooculofacial syndrome [RCV003314315]	Chr6:10409900 [GRCh38] Chr6:10410133 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.232G>A (p.Val78Ile)	single nucleotide variant	not provided [RCV002284698]	Chr6:10410155 [GRCh38] Chr6:10410388 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.656G>T (p.Arg219Leu)	single nucleotide variant	Inborn genetic diseases [RCV000623161]\|TFAP2A-related disorder [RCV003411473]	Chr6:10404622 [GRCh38] Chr6:10404855 [GRCh37] Chr6:6p24.3	likely pathogenic\|uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3	copy number gain	See cases [RCV000446145]	Chr6:302272..18375047 [GRCh37] Chr6:6p25.3-22.3	pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3	copy number gain	See cases [RCV000447409]	Chr6:8269414..17402660 [GRCh37] Chr6:6p24.3-22.3	likely pathogenic
NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu)	single nucleotide variant	Branchiooculofacial syndrome [RCV002481337]\|Inborn genetic diseases [RCV004022494]\|not provided [RCV000427195]	Chr6:10410130 [GRCh38] Chr6:10410363 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.544G>A (p.Val182Met)	single nucleotide variant	not provided [RCV000514793]	Chr6:10404734 [GRCh38] Chr6:10404967 [GRCh37] Chr6:6p24.3	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	deletion	Branchiooculofacial syndrome [RCV001270676]\|Epicanthus [RCV000626845]	Chr6:10398693..10398694 [GRCh38] Chr6:10398926..10398927 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660306]\|Inborn genetic diseases [RCV000623229]	Chr6:10404511 [GRCh38] Chr6:10404744 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp)	single nucleotide variant	Chromatinopathy [RCV001261299]\|Inborn genetic diseases [RCV000623378]\|not provided [RCV005091812]	Chr6:10404509 [GRCh38] Chr6:10404742 [GRCh37] Chr6:6p24.3	pathogenic\|likely pathogenic
NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660304]	Chr6:10404512 [GRCh38] Chr6:10404745 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660308]	Chr6:10400584 [GRCh38] Chr6:10400817 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660301]\|not provided [RCV004768516]	Chr6:10404562 [GRCh38] Chr6:10404795 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660302]	Chr6:10404559 [GRCh38] Chr6:10404792 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660305]\|Inborn genetic diseases [RCV004026051]	Chr6:10404512 [GRCh38] Chr6:10404745 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)	single nucleotide variant	Branchiooculofacial syndrome [RCV000660309]	Chr6:10398417 [GRCh38] Chr6:10398650 [GRCh37] Chr6:6p24.3	likely pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	copy number gain	not provided [RCV000682628]	Chr6:156974..13502033 [GRCh37] Chr6:6p25.3-23	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	copy number gain	not provided [RCV000682629]	Chr6:156974..21955964 [GRCh37] Chr6:6p25.3-22.3	pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	copy number loss	not provided [RCV000682643]	Chr6:6990611..11276452 [GRCh37] Chr6:6p25.1-24.2	pathogenic
Single allele	duplication	not provided [RCV000677944]	Chr6:168775..24023234 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002493268]\|not provided [RCV000713828]	Chr6:10402555 [GRCh38] Chr6:10402788 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.713G>C (p.Arg238Pro)	single nucleotide variant	not provided [RCV001530998]	Chr6:10404565 [GRCh38] Chr6:10404798 [GRCh37] Chr6:6p24.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_001372066.1(TFAP2A):c.770+230T>C	single nucleotide variant	not provided [RCV001691357]	Chr6:10404278 [GRCh38] Chr6:10404511 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.487C>G (p.His163Asp)	single nucleotide variant	not provided [RCV000910491]	Chr6:10406844 [GRCh38] Chr6:10407077 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.346C>T (p.Leu116=)	single nucleotide variant	TFAP2A-related disorder [RCV003950767]\|not provided [RCV000912611]	Chr6:10410041 [GRCh38] Chr6:10410274 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002502747]\|not provided [RCV000912783]	Chr6:10404531 [GRCh38] Chr6:10404764 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.51+168C>G	single nucleotide variant	not provided [RCV001648999]	Chr6:10414773 [GRCh38] Chr6:10415006 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.557A>G (p.Lys186Arg)	single nucleotide variant	not provided [RCV000762390]	Chr6:10404721 [GRCh38] Chr6:10404954 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1031+233del	deletion	not provided [RCV001640807]	Chr6:10400215 [GRCh38] Chr6:10400448 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.1031+21G>A	single nucleotide variant	not provided [RCV001544999]	Chr6:10400427 [GRCh38] Chr6:10400660 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.771-340A>G	single nucleotide variant	not provided [RCV001667338]	Chr6:10402950 [GRCh38] Chr6:10403183 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002505386]\|not provided [RCV000932896]	Chr6:10404564 [GRCh38] Chr6:10404797 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1194G>T (p.Thr398=)	single nucleotide variant	not provided [RCV000961684]	Chr6:10398543 [GRCh38] Chr6:10398776 [GRCh37] Chr6:6p24.3	benign
NC_000006.12:g.(?_10393499)_(11010809_?)dup	duplication	not provided [RCV001033945]	Chr6:10393732..11011042 [GRCh37] Chr6:6p24.3-24.2	uncertain significance
NM_001372066.1(TFAP2A):c.721T>C (p.Ser241Pro)	single nucleotide variant	not provided [RCV001756660]	Chr6:10404557 [GRCh38] Chr6:10404790 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.486+4A>G	single nucleotide variant	not provided [RCV000906144]	Chr6:10409897 [GRCh38] Chr6:10410130 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.246C>T (p.Tyr82=)	single nucleotide variant	not provided [RCV000920811]	Chr6:10410141 [GRCh38] Chr6:10410374 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.51+8C>T	single nucleotide variant	TFAP2A-related disorder [RCV003970486]\|not provided [RCV000921536]	Chr6:10414933 [GRCh38] Chr6:10415166 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002507567]\|not provided [RCV000885611]	Chr6:10400555 [GRCh38] Chr6:10400788 [GRCh37] Chr6:6p24.3	benign\|likely benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	copy number gain	not provided [RCV000848108]	Chr6:156974..23221621 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.729C>G (p.Pro243=)	single nucleotide variant	not provided [RCV000914051]	Chr6:10404549 [GRCh38] Chr6:10404782 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002489234]\|not provided [RCV000928809]	Chr6:10398522 [GRCh38] Chr6:10398755 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002502964]\|not provided [RCV000954658]	Chr6:10409961 [GRCh38] Chr6:10410194 [GRCh37] Chr6:6p24.3	benign\|likely benign
GRCh37/hg19 6p24.3(chr6:10329349-10553787)x3	copy number gain	not provided [RCV000846238]	Chr6:10329349..10553787 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002505261]\|TFAP2A-related disorder [RCV003940604]\|not provided [RCV000888418]	Chr6:10404699 [GRCh38] Chr6:10404932 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.551T>C (p.Leu184Pro)	single nucleotide variant	Inborn genetic diseases [RCV004040939]\|not provided [RCV001813832]	Chr6:10404727 [GRCh38] Chr6:10404960 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)	single nucleotide variant	Branchiooculofacial syndrome [RCV001198037]	Chr6:10398698 [GRCh38] Chr6:10398931 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)	single nucleotide variant	Branchiooculofacial syndrome [RCV000995666]	Chr6:10404526 [GRCh38] Chr6:10404759 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.23C>T (p.Thr8Met)	single nucleotide variant	not provided [RCV003104466]	Chr6:10414969 [GRCh38] Chr6:10415202 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.*88C>A	single nucleotide variant	not provided [RCV001569527]	Chr6:10398329 [GRCh38] Chr6:10398562 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.889+317_889+321del	deletion	not provided [RCV001549363]	Chr6:10402171..10402175 [GRCh38] Chr6:10402404..10402408 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.259C>G (p.Leu87Val)	single nucleotide variant	Inborn genetic diseases [RCV003273794]	Chr6:10410128 [GRCh38] Chr6:10410361 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.52-1046C>T	single nucleotide variant	not provided [RCV001694907]	Chr6:10411381 [GRCh38] Chr6:10411614 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.539-3C>T	single nucleotide variant	not provided [RCV001585397]	Chr6:10404742 [GRCh38] Chr6:10404975 [GRCh37] Chr6:6p24.3	likely benign\|conflicting interpretations of pathogenicity
NM_001372066.1(TFAP2A):c.52-1865G>C	single nucleotide variant	not provided [RCV001550012]	Chr6:10412200 [GRCh38] Chr6:10412433 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.890-215_890-213del	microsatellite	not provided [RCV001696072]	Chr6:10400802..10400804 [GRCh38] Chr6:10401035..10401037 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.539-54del	deletion	not provided [RCV001667408]	Chr6:10404793 [GRCh38] Chr6:10405026 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.889+286_889+287insTC	insertion	not provided [RCV001639902]	Chr6:10402205..10402206 [GRCh38] Chr6:10402438..10402439 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.-83G>C	single nucleotide variant	not provided [RCV001666066]	Chr6:10415074 [GRCh38] Chr6:10415307 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.21G>A (p.Leu7=)	single nucleotide variant	not provided [RCV000920046]	Chr6:10414971 [GRCh38] Chr6:10415204 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.391C>A (p.Arg131=)	single nucleotide variant	not provided [RCV000925113]	Chr6:10409996 [GRCh38] Chr6:10410229 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.820A>G (p.Ile274Val)	single nucleotide variant	Branchiooculofacial syndrome [RCV001249782]	Chr6:10402561 [GRCh38] Chr6:10402794 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.889+73T>C	single nucleotide variant	Branchiooculofacial syndrome [RCV001713137]\|not provided [RCV001561919]	Chr6:10402419 [GRCh38] Chr6:10402652 [GRCh37] Chr6:6p24.3	pathogenic\|likely benign
NM_001372066.1(TFAP2A):c.889+82T>G	single nucleotide variant	not provided [RCV001551537]	Chr6:10402410 [GRCh38] Chr6:10402643 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)	single nucleotide variant	Branchiooculofacial syndrome [RCV000987656]	Chr6:10406838 [GRCh38] Chr6:10407071 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.52-2168del	deletion	not provided [RCV001595237]	Chr6:10412503 [GRCh38] Chr6:10412736 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.1032-44T>A	single nucleotide variant	Branchiooculofacial syndrome [RCV001838781]\|not provided [RCV001682275]	Chr6:10398749 [GRCh38] Chr6:10398982 [GRCh37] Chr6:6p24.3	benign
NC_000006.12:g.10419846C>T	single nucleotide variant	not provided [RCV001594192]	Chr6:10419846 [GRCh38] Chr6:10420079 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1013dup (p.Asn338fs)	duplication	not provided [RCV001008636]	Chr6:10400465..10400466 [GRCh38] Chr6:10400698..10400699 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)	single nucleotide variant	Branchiooculofacial syndrome [RCV001029733]	Chr6:10404520 [GRCh38] Chr6:10404753 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.-14G>C	single nucleotide variant	not provided [RCV001581527]	Chr6:10415005 [GRCh38] Chr6:10415238 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.52-2220C>T	single nucleotide variant	not provided [RCV001674058]	Chr6:10412555 [GRCh38] Chr6:10412788 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.1289G>A (p.Ser430Asn)	single nucleotide variant	not provided [RCV001568032]	Chr6:10398448 [GRCh38] Chr6:10398681 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.51+173A>G	single nucleotide variant	not provided [RCV001654274]	Chr6:10414768 [GRCh38] Chr6:10415001 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.770+275C>T	single nucleotide variant	not provided [RCV001638452]	Chr6:10404233 [GRCh38] Chr6:10404466 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.771-230C>T	single nucleotide variant	not provided [RCV001708366]	Chr6:10402840 [GRCh38] Chr6:10403073 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.51+124C>A	single nucleotide variant	not provided [RCV001692537]	Chr6:10414817 [GRCh38] Chr6:10415050 [GRCh37] Chr6:6p24.3	benign
NC_000006.12:g.10419731C>A	single nucleotide variant	not provided [RCV001613724]	Chr6:10419731 [GRCh38] Chr6:10419964 [GRCh37] Chr6:6p24.3	benign
NM_001042425.3(TFAP2A):c.33+175G>A	single nucleotide variant	not provided [RCV001695068]	Chr6:10419243 [GRCh38] Chr6:10419476 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys)	single nucleotide variant	Branchiooculofacial syndrome [RCV001262709]	Chr6:10404548 [GRCh38] Chr6:10404781 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1320del (p.Ter440TrpextTer?)	deletion	Neurodevelopmental abnormality [RCV001264662]	Chr6:10398417 [GRCh38] Chr6:10398650 [GRCh37] Chr6:6p24.3	uncertain significance
NC_000006.12:g.(?_10398710)_(10415642_?)del	deletion	Branchiooculofacial syndrome [RCV001261298]	Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.889+2dup	duplication	Branchiooculofacial syndrome [RCV001336553]	Chr6:10402489..10402490 [GRCh38] Chr6:10402722..10402723 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1031+2dup	duplication	not provided [RCV001297359]	Chr6:10400445..10400446 [GRCh38] Chr6:10400678..10400679 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter)	single nucleotide variant	Melnick-Fraser syndrome [RCV001375377]	Chr6:10414977 [GRCh38] Chr6:10415210 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)	single nucleotide variant	Branchiooculofacial syndrome [RCV001329052]	Chr6:10410293 [GRCh38] Chr6:10410526 [GRCh37] Chr6:6p24.3	likely pathogenic
NC_000006.11:g.(?_10393732)_(10439975_?)del	deletion	not provided [RCV001388374]	Chr6:10393732..10439975 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.770+22CCCGC[4]	microsatellite	not provided [RCV001534722]	Chr6:10404471..10404472 [GRCh38] Chr6:10404704..10404705 [GRCh37] Chr6:6p24.3	benign
NC_000006.12:g.10419865C>T	single nucleotide variant	not provided [RCV001708940]	Chr6:10419865 [GRCh38] Chr6:10420098 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.155A>G (p.Asn52Ser)	single nucleotide variant	not provided [RCV001665215]	Chr6:10410232 [GRCh38] Chr6:10410465 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.52-2261C>T	single nucleotide variant	not provided [RCV001650641]	Chr6:10412596 [GRCh38] Chr6:10412829 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.598G>A (p.Asp200Asn)	single nucleotide variant	not provided [RCV001761132]	Chr6:10404680 [GRCh38] Chr6:10404913 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1147C>T (p.Leu383Phe)	single nucleotide variant	not provided [RCV001769243]	Chr6:10398590 [GRCh38] Chr6:10398823 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val)	single nucleotide variant	Branchiooculofacial syndrome [RCV001733573]\|not provided [RCV002477912]	Chr6:10404697 [GRCh38] Chr6:10404930 [GRCh37] Chr6:6p24.3	uncertain significance\|no classifications from unflagged records
NM_001372066.1(TFAP2A):c.14_15delinsTC (p.Trp5Phe)	indel	not provided [RCV001767504]	Chr6:10414977..10414978 [GRCh38] Chr6:10415210..10415211 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.241C>G (p.Pro81Ala)	single nucleotide variant	Branchiooculofacial syndrome [RCV005040357]\|not provided [RCV001765786]	Chr6:10410146 [GRCh38] Chr6:10410379 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.310_315dup (p.Ser104_Gln105dup)	duplication	not provided [RCV001765973]	Chr6:10410071..10410072 [GRCh38] Chr6:10410304..10410305 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.811C>G (p.Leu271Val)	single nucleotide variant	not provided [RCV001772869]	Chr6:10402570 [GRCh38] Chr6:10402803 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.211T>A (p.Ser71Thr)	single nucleotide variant	not provided [RCV001767715]	Chr6:10410176 [GRCh38] Chr6:10410409 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1094G>A (p.Arg365Gln)	single nucleotide variant	not provided [RCV001768980]	Chr6:10398643 [GRCh38] Chr6:10398876 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.391C>G (p.Arg131Gly)	single nucleotide variant	not provided [RCV004801756]	Chr6:10409996 [GRCh38] Chr6:10410229 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.614G>A (p.Gly205Asp)	single nucleotide variant	not provided [RCV001823395]	Chr6:10404664 [GRCh38] Chr6:10404897 [GRCh37] Chr6:6p24.3	uncertain significance
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	copy number gain	not specified [RCV002053552]	Chr6:8269414..17402660 [GRCh37] Chr6:6p24.3-22.3	likely pathogenic
NM_001372066.1(TFAP2A):c.428G>A (p.Ser143Asn)	single nucleotide variant	not provided [RCV002039645]	Chr6:10409959 [GRCh38] Chr6:10410192 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala)	single nucleotide variant	Branchiooculofacial syndrome [RCV002478278]\|not provided [RCV001893399]	Chr6:10410284 [GRCh38] Chr6:10410517 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1182T>C (p.Cys394=)	single nucleotide variant	not provided [RCV001985615]	Chr6:10398555 [GRCh38] Chr6:10398788 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser)	single nucleotide variant	Branchiooculofacial syndrome [RCV002478090]\|not provided [RCV002041488]	Chr6:10402521 [GRCh38] Chr6:10402754 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met)	single nucleotide variant	Branchiooculofacial syndrome [RCV002490188]\|TFAP2A-related disorder [RCV003407921]\|not provided [RCV001917808]	Chr6:10409913 [GRCh38] Chr6:10410146 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.118C>T (p.Pro40Ser)	single nucleotide variant	not provided [RCV001918468]	Chr6:10410269 [GRCh38] Chr6:10410502 [GRCh37] Chr6:6p24.3	uncertain significance
NC_000006.11:g.(?_10398650)_(10882026_?)dup	duplication	Cataract 13 with adult I phenotype [RCV001916845]\|not provided [RCV003107897]	Chr6:10398650..10882026 [GRCh37] Chr6:6p24.3-24.2	uncertain significance\|no classifications from unflagged records
NM_001372066.1(TFAP2A):c.160G>A (p.Asp54Asn)	single nucleotide variant	not provided [RCV001934219]	Chr6:10410227 [GRCh38] Chr6:10410460 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002494245]\|not provided [RCV002126742]	Chr6:10404618 [GRCh38] Chr6:10404851 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)	single nucleotide variant	Branchiooculofacial syndrome [RCV002500303]\|not provided [RCV002148731]	Chr6:10410246 [GRCh38] Chr6:10410479 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.51+20G>T	single nucleotide variant	Branchiooculofacial syndrome [RCV002500261]\|not provided [RCV002126407]	Chr6:10414921 [GRCh38] Chr6:10415154 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1031+18A>G	single nucleotide variant	not provided [RCV002132831]	Chr6:10400430 [GRCh38] Chr6:10400663 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.539-19C>T	single nucleotide variant	Branchiooculofacial syndrome [RCV002500214]\|not provided [RCV002123838]	Chr6:10404758 [GRCh38] Chr6:10404991 [GRCh37] Chr6:6p24.3	likely benign
NM_001032280.3(TFAP2A):c.260A>T (p.His87Leu)	single nucleotide variant	not provided [RCV002221761]		uncertain significance
NM_001042425.2(TFAP2A):c.-309C>G	single nucleotide variant	not provided [RCV003436491]	Chr6:10419759 [GRCh38] Chr6:10419992 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.770+16G>T	single nucleotide variant	not provided [RCV002155655]	Chr6:10404492 [GRCh38] Chr6:10404725 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1173C>G (p.Pro391=)	single nucleotide variant	not provided [RCV002098110]	Chr6:10398564 [GRCh38] Chr6:10398797 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.534G>A (p.Lys178=)	single nucleotide variant	Branchiooculofacial syndrome [RCV005042746]\|not provided [RCV002161420]	Chr6:10406797 [GRCh38] Chr6:10407030 [GRCh37] Chr6:6p24.3	likely benign\|uncertain significance
NC_000006.11:g.(?_10402705)_(10415218_?)dup	duplication	not provided [RCV003113237]	Chr6:10402705..10415218 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.770+5G>A	single nucleotide variant	not provided [RCV003123329]	Chr6:10404503 [GRCh38] Chr6:10404736 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp)	single nucleotide variant	Branchiooculofacial syndrome [RCV002226999]	Chr6:10404539 [GRCh38] Chr6:10404772 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.681G>A (p.Ser227=)	single nucleotide variant	TFAP2A-related disorder [RCV003973372]\|not provided [RCV002263397]	Chr6:10404597 [GRCh38] Chr6:10404830 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1226A>C (p.Lys409Thr)	single nucleotide variant	not provided [RCV002275764]	Chr6:10398511 [GRCh38] Chr6:10398744 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)	single nucleotide variant	Branchiooculofacial syndrome [RCV002272588]\|TFAP2A-related disorder [RCV003933735]	Chr6:10404591 [GRCh38] Chr6:10404824 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)	deletion	Branchiooculofacial syndrome [RCV002471854]	Chr6:10409906 [GRCh38] Chr6:10410139 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.248G>A (p.Ser83Asn)	single nucleotide variant	not specified [RCV002302476]	Chr6:10410139 [GRCh38] Chr6:10410372 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1099A>C (p.Asn367His)	single nucleotide variant	Inborn genetic diseases [RCV002682852]	Chr6:10398638 [GRCh38] Chr6:10398871 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.770+13_770+17dup	duplication	not provided [RCV002681950]	Chr6:10404490..10404491 [GRCh38] Chr6:10404723..10404724 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.890-17C>G	single nucleotide variant	not provided [RCV002685903]	Chr6:10400606 [GRCh38] Chr6:10400839 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.502G>C (p.Gly168Arg)	single nucleotide variant	Inborn genetic diseases [RCV002684647]	Chr6:10406829 [GRCh38] Chr6:10407062 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.985G>A (p.Asp329Asn)	single nucleotide variant	Branchiooculofacial syndrome [RCV005034778]\|not provided [RCV002616860]	Chr6:10400494 [GRCh38] Chr6:10400727 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.862G>A (p.Val288Ile)	single nucleotide variant	Inborn genetic diseases [RCV002793741]	Chr6:10402519 [GRCh38] Chr6:10402752 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.586C>T (p.Pro196Ser)	single nucleotide variant	Inborn genetic diseases [RCV002683223]	Chr6:10404692 [GRCh38] Chr6:10404925 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1078C>T (p.Pro360Ser)	single nucleotide variant	not provided [RCV002462586]	Chr6:10398659 [GRCh38] Chr6:10398892 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.680C>A (p.Ser227Ter)	single nucleotide variant	not provided [RCV002819486]	Chr6:10404598 [GRCh38] Chr6:10404831 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.1156C>T (p.His386Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002865619]	Chr6:10398581 [GRCh38] Chr6:10398814 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.594C>A (p.Asn198Lys)	single nucleotide variant	Inborn genetic diseases [RCV002848641]	Chr6:10404684 [GRCh38] Chr6:10404917 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1185C>G (p.Ala395=)	single nucleotide variant	not provided [RCV002637439]	Chr6:10398552 [GRCh38] Chr6:10398785 [GRCh37] Chr6:6p24.3	benign
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	copy number gain	See cases [RCV002509885]	Chr6:820000..21700000 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.743C>A (p.Ala248Glu)	single nucleotide variant	not provided [RCV003037138]	Chr6:10404535 [GRCh38] Chr6:10404768 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.566G>A (p.Ser189Asn)	single nucleotide variant	Inborn genetic diseases [RCV002845343]\|not provided [RCV003443152]	Chr6:10404712 [GRCh38] Chr6:10404945 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.502G>A (p.Gly168Ser)	single nucleotide variant	Inborn genetic diseases [RCV003167728]\|not provided [RCV002780443]	Chr6:10406829 [GRCh38] Chr6:10407062 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.897T>C (p.Ala299=)	single nucleotide variant	not provided [RCV002622522]	Chr6:10400582 [GRCh38] Chr6:10400815 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.889+4A>C	single nucleotide variant	not provided [RCV002923821]	Chr6:10402488 [GRCh38] Chr6:10402721 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1285A>G (p.Lys429Glu)	single nucleotide variant	not provided [RCV003059916]	Chr6:10398452 [GRCh38] Chr6:10398685 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1188G>A (p.Ala396=)	single nucleotide variant	not provided [RCV002666862]	Chr6:10398549 [GRCh38] Chr6:10398782 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.771-17A>G	single nucleotide variant	not provided [RCV002666796]	Chr6:10402627 [GRCh38] Chr6:10402860 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.116C>T (p.Ser39Phe)	single nucleotide variant	Branchiooculofacial syndrome [RCV005032344]\|not provided [RCV002594539]	Chr6:10410271 [GRCh38] Chr6:10410504 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.922T>C (p.Tyr308His)	single nucleotide variant	Inborn genetic diseases [RCV002788095]	Chr6:10400557 [GRCh38] Chr6:10400790 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.487-20T>C	single nucleotide variant	not provided [RCV002786299]	Chr6:10406864 [GRCh38] Chr6:10407097 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.700G>A (p.Ala234Thr)	single nucleotide variant	not provided [RCV003025724]	Chr6:10404578 [GRCh38] Chr6:10404811 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.452T>A (p.Ile151Asn)	single nucleotide variant	not provided [RCV002700986]	Chr6:10409935 [GRCh38] Chr6:10410168 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.148A>C (p.Thr50Pro)	single nucleotide variant	not provided [RCV002600297]	Chr6:10410239 [GRCh38] Chr6:10410472 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.691G>A (p.Val231Ile)	single nucleotide variant	not provided [RCV003062733]	Chr6:10404587 [GRCh38] Chr6:10404820 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.729C>A (p.Pro243=)	single nucleotide variant	Branchiooculofacial syndrome [RCV005034383]\|not provided [RCV002725823]	Chr6:10404549 [GRCh38] Chr6:10404782 [GRCh37] Chr6:6p24.3	likely benign\|uncertain significance
NM_001372066.1(TFAP2A):c.1193C>T (p.Thr398Met)	single nucleotide variant	Branchiooculofacial syndrome [RCV005042880]\|Inborn genetic diseases [RCV004965922]\|not provided [RCV002587093]	Chr6:10398544 [GRCh38] Chr6:10398777 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.702G>A (p.Ala234=)	single nucleotide variant	not provided [RCV002609098]	Chr6:10404576 [GRCh38] Chr6:10404809 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.409C>A (p.His137Asn)	single nucleotide variant	not provided [RCV003219085]	Chr6:10409978 [GRCh38] Chr6:10410211 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.754G>T (p.Gly252Cys)	single nucleotide variant	Branchiooculofacial syndrome [RCV003140970]	Chr6:10404524 [GRCh38] Chr6:10404757 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)	single nucleotide variant	Branchiooculofacial syndrome [RCV003140969]	Chr6:10410167 [GRCh38] Chr6:10410400 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.705A>C (p.Glu235Asp)	single nucleotide variant	Branchiooculofacial syndrome [RCV003140261]	Chr6:10404573 [GRCh38] Chr6:10404806 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.454C>T (p.His152Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003215029]	Chr6:10409933 [GRCh38] Chr6:10410166 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.925G>A (p.Val309Met)	single nucleotide variant	Inborn genetic diseases [RCV003175534]\|not provided [RCV003738395]	Chr6:10400554 [GRCh38] Chr6:10400787 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.151C>G (p.Pro51Ala)	single nucleotide variant	Inborn genetic diseases [RCV003309143]	Chr6:10410236 [GRCh38] Chr6:10410469 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)	deletion	Branchiooculofacial syndrome [RCV003333711]	Chr6:10402545..10402546 [GRCh38] Chr6:10402778..10402779 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.1099A>T (p.Asn367Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003359632]	Chr6:10398638 [GRCh38] Chr6:10398871 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.771-2_771-1del	deletion	Inborn genetic diseases [RCV003376552]	Chr6:10402611..10402612 [GRCh38] Chr6:10402844..10402845 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1093C>A (p.Arg365=)	single nucleotide variant	not provided [RCV003457456]	Chr6:10398644 [GRCh38] Chr6:10398877 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.689A>G (p.Lys230Arg)	single nucleotide variant	Inborn genetic diseases [RCV003383157]	Chr6:10404589 [GRCh38] Chr6:10404822 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1273del (p.Asp425fs)	deletion	not provided [RCV003543024]	Chr6:10398464 [GRCh38] Chr6:10398697 [GRCh37] Chr6:6p24.3	uncertain significance
GRCh37/hg19 6p24.3(chr6:10099993-10564232)x1	copy number loss	not provided [RCV003485502]	Chr6:10099993..10564232 [GRCh37] Chr6:6p24.3	pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	copy number gain	not provided [RCV003484635]	Chr6:156975..15478095 [GRCh37] Chr6:6p25.3-22.3	pathogenic
NM_001372066.1(TFAP2A):c.918T>C (p.Phe306=)	single nucleotide variant	Branchiooculofacial syndrome [RCV005040608]\|not provided [RCV003872623]	Chr6:10400561 [GRCh38] Chr6:10400794 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)	single nucleotide variant	not specified [RCV003479582]	Chr6:10404526 [GRCh38] Chr6:10404759 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.486+17C>T	single nucleotide variant	not provided [RCV003826250]	Chr6:10409884 [GRCh38] Chr6:10410117 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.297C>G (p.Pro99=)	single nucleotide variant	not provided [RCV003880002]	Chr6:10410090 [GRCh38] Chr6:10410323 [GRCh37] Chr6:6p24.3	likely benign
NC_000006.12:g.10419454G>A	single nucleotide variant	TFAP2A-related disorder [RCV003929149]\|not provided [RCV003436490]	Chr6:10419454 [GRCh38] Chr6:10419687 [GRCh37] Chr6:6p24.3	benign\|likely benign
NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)	single nucleotide variant	Branchiooculofacial syndrome [RCV003388730]	Chr6:10404536 [GRCh38] Chr6:10404769 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.432A>C (p.Ser144=)	single nucleotide variant	not provided [RCV003436489]	Chr6:10409955 [GRCh38] Chr6:10410188 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.656G>C (p.Arg219Pro)	single nucleotide variant	TFAP2A-related disorder [RCV003402432]	Chr6:10404622 [GRCh38] Chr6:10404855 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.812T>G (p.Leu271Arg)	single nucleotide variant	TFAP2A-related disorder [RCV003400313]	Chr6:10402569 [GRCh38] Chr6:10402802 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.659T>C (p.Leu220Pro)	single nucleotide variant	not provided [RCV003441240]	Chr6:10404619 [GRCh38] Chr6:10404852 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.430T>C (p.Ser144Pro)	single nucleotide variant	TFAP2A-related disorder [RCV003410747]	Chr6:10409957 [GRCh38] Chr6:10410190 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.183C>T (p.Pro61=)	single nucleotide variant	not provided [RCV003579513]	Chr6:10410204 [GRCh38] Chr6:10410437 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1185C>T (p.Ala395=)	single nucleotide variant	not provided [RCV003739477]	Chr6:10398552 [GRCh38] Chr6:10398785 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter)	single nucleotide variant	not provided [RCV003716657]	Chr6:10400506 [GRCh38] Chr6:10400739 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.800T>C (p.Leu267Ser)	single nucleotide variant	not provided [RCV003695083]	Chr6:10402581 [GRCh38] Chr6:10402814 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.1032-11T>C	single nucleotide variant	not provided [RCV003686559]	Chr6:10398716 [GRCh38] Chr6:10398949 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.770+18C>A	single nucleotide variant	not provided [RCV003824983]	Chr6:10404490 [GRCh38] Chr6:10404723 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.749T>C (p.Leu250Pro)	single nucleotide variant	not provided [RCV003545314]	Chr6:10404529 [GRCh38] Chr6:10404762 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.441A>C (p.Gly147=)	single nucleotide variant	not provided [RCV003545979]	Chr6:10409946 [GRCh38] Chr6:10410179 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.727C>G (p.Pro243Ala)	single nucleotide variant	not provided [RCV003713703]	Chr6:10404551 [GRCh38] Chr6:10404784 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.408G>T (p.Leu136=)	single nucleotide variant	not provided [RCV003693278]	Chr6:10409979 [GRCh38] Chr6:10410212 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.541C>T (p.Pro181Ser)	single nucleotide variant	not provided [RCV003826454]	Chr6:10404737 [GRCh38] Chr6:10404970 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.890-11C>T	single nucleotide variant	not provided [RCV003811860]	Chr6:10400600 [GRCh38] Chr6:10400833 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.770+12C>T	single nucleotide variant	Branchiooculofacial syndrome [RCV005038579]\|not provided [RCV003850335]	Chr6:10404496 [GRCh38] Chr6:10404729 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.984C>T (p.Ser328=)	single nucleotide variant	not provided [RCV003665076]	Chr6:10400495 [GRCh38] Chr6:10400728 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.539-4G>C	single nucleotide variant	not provided [RCV003856630]	Chr6:10404743 [GRCh38] Chr6:10404976 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.539-4G>A	single nucleotide variant	not provided [RCV003549145]	Chr6:10404743 [GRCh38] Chr6:10404976 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.296C>T (p.Pro99Leu)	single nucleotide variant	not provided [RCV003549924]	Chr6:10410091 [GRCh38] Chr6:10410324 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.776A>G (p.Lys259Arg)	single nucleotide variant	not provided [RCV003701341]	Chr6:10402605 [GRCh38] Chr6:10402838 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.342G>A (p.Arg114=)	single nucleotide variant	not provided [RCV003725010]	Chr6:10410045 [GRCh38] Chr6:10410278 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.606C>A (p.Leu202=)	single nucleotide variant	not provided [RCV003673729]	Chr6:10404672 [GRCh38] Chr6:10404905 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.678C>G (p.Thr226=)	single nucleotide variant	not provided [RCV003668346]	Chr6:10404600 [GRCh38] Chr6:10404833 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1053C>T (p.Thr351=)	single nucleotide variant	not provided [RCV003821015]	Chr6:10398684 [GRCh38] Chr6:10398917 [GRCh37] Chr6:6p24.3	benign
NM_001372066.1(TFAP2A):c.768G>A (p.Arg256=)	single nucleotide variant	not provided [RCV003676097]	Chr6:10404510 [GRCh38] Chr6:10404743 [GRCh37] Chr6:6p24.3	likely benign\|conflicting interpretations of pathogenicity
NM_001372066.1(TFAP2A):c.554C>A (p.Ser185Tyr)	single nucleotide variant	not provided [RCV003567064]	Chr6:10404724 [GRCh38] Chr6:10404957 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.65G>T (p.Gly22Val)	single nucleotide variant	not provided [RCV003722614]	Chr6:10410322 [GRCh38] Chr6:10410555 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.717G>A (p.Arg239=)	single nucleotide variant	TFAP2A-related disorder [RCV003966660]\|not provided [RCV003735770]	Chr6:10404561 [GRCh38] Chr6:10404794 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.30T>C (p.Asn10=)	single nucleotide variant	not provided [RCV003720491]	Chr6:10414962 [GRCh38] Chr6:10415195 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.738C>T (p.Leu246=)	single nucleotide variant	not provided [RCV003733740]	Chr6:10404540 [GRCh38] Chr6:10404773 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.81G>A (p.Thr27=)	single nucleotide variant	not provided [RCV003858177]	Chr6:10410306 [GRCh38] Chr6:10410539 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.930C>T (p.Cys310=)	single nucleotide variant	not provided [RCV003728309]	Chr6:10400549 [GRCh38] Chr6:10400782 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.152C>T (p.Pro51Leu)	single nucleotide variant	not provided [RCV003562536]	Chr6:10410235 [GRCh38] Chr6:10410468 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.295C>T (p.Pro99Ser)	single nucleotide variant	not provided [RCV003554776]	Chr6:10410092 [GRCh38] Chr6:10410325 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.51+8C>A	single nucleotide variant	TFAP2A-related disorder [RCV003896444]	Chr6:10414933 [GRCh38] Chr6:10415166 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1302G>A (p.Glu434=)	single nucleotide variant	TFAP2A-related disorder [RCV003929533]	Chr6:10398435 [GRCh38] Chr6:10398668 [GRCh37] Chr6:6p24.3	likely benign
NM_001042425.3(TFAP2A):c.33+10del	deletion	TFAP2A-related disorder [RCV003902317]\|not provided [RCV004588521]	Chr6:10419408 [GRCh38] Chr6:10419641 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1203G>C (p.Gln401His)	single nucleotide variant	Branchiooculofacial syndrome [RCV003990650]	Chr6:10398534 [GRCh38] Chr6:10398767 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1209T>G (p.Tyr403Ter)	single nucleotide variant	TFAP2A-related disorder [RCV003942237]	Chr6:10398528 [GRCh38] Chr6:10398761 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.639C>G (p.Phe213Leu)	single nucleotide variant	Branchiooculofacial syndrome [RCV003991890]	Chr6:10404639 [GRCh38] Chr6:10404872 [GRCh37] Chr6:6p24.3	likely pathogenic
NC_000006.11:g.(?_10212581)_(10400010_?)del	deletion	not provided [RCV004578811]	Chr6:10212581..10400010 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.241C>T (p.Pro81Ser)	single nucleotide variant	not provided [RCV004585940]	Chr6:10410146 [GRCh38] Chr6:10410379 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1165G>T (p.Gly389Cys)	single nucleotide variant	Inborn genetic diseases [RCV004676761]	Chr6:10398572 [GRCh38] Chr6:10398805 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1221C>T (p.Ala407=)	single nucleotide variant	not provided [RCV004811056]	Chr6:10398516 [GRCh38] Chr6:10398749 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.326T>G (p.Leu109Arg)	single nucleotide variant	TFAP2A-related disorder [RCV004753924]	Chr6:10410061 [GRCh38] Chr6:10410294 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.881T>A (p.Leu294Gln)	single nucleotide variant	not provided [RCV004777431]	Chr6:10402500 [GRCh38] Chr6:10402733 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1249A>G (p.Ser417Gly)	single nucleotide variant	not provided [RCV004775058]	Chr6:10398488 [GRCh38] Chr6:10398721 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.620_636delinsGGGT (p.Val207fs)	indel	TFAP2A-related disorder [RCV004730676]	Chr6:10404642..10404658 [GRCh38] Chr6:10404875..10404891 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.52-1249A>G	single nucleotide variant	TFAP2A-related disorder [RCV004753880]	Chr6:10411584 [GRCh38] Chr6:10411817 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1271C>T (p.Thr424Met)	single nucleotide variant	TFAP2A-related disorder [RCV004754131]	Chr6:10398466 [GRCh38] Chr6:10398699 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.715C>G (p.Arg239Gly)	single nucleotide variant	not provided [RCV004720157]	Chr6:10404563 [GRCh38] Chr6:10404796 [GRCh37] Chr6:6p24.3	pathogenic
NM_001372066.1(TFAP2A):c.507T>G (p.Ile169Met)	single nucleotide variant	Branchiooculofacial syndrome [RCV005045481]	Chr6:10406824 [GRCh38] Chr6:10407057 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.580G>A (p.Ala194Thr)	single nucleotide variant	Branchiooculofacial syndrome [RCV005045480]	Chr6:10404698 [GRCh38] Chr6:10404931 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.322G>T (p.Gly108Trp)	single nucleotide variant	Branchiooculofacial syndrome [RCV005045482]	Chr6:10410065 [GRCh38] Chr6:10410298 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.458C>G (p.Ser153Cys)	single nucleotide variant	Inborn genetic diseases [RCV004971695]	Chr6:10409929 [GRCh38] Chr6:10410162 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1145A>G (p.Asn382Ser)	single nucleotide variant	Inborn genetic diseases [RCV004971694]	Chr6:10398592 [GRCh38] Chr6:10398825 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.501G>A (p.Pro167=)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037728]	Chr6:10406830 [GRCh38] Chr6:10407063 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.499C>A (p.Pro167Thr)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037729]	Chr6:10406832 [GRCh38] Chr6:10407065 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.271C>T (p.Pro91Ser)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037730]	Chr6:10410116 [GRCh38] Chr6:10410349 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.204C>A (p.Tyr68Ter)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037731]	Chr6:10410183 [GRCh38] Chr6:10410416 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.69_85dup (p.Arg29fs)	duplication	Branchiooculofacial syndrome [RCV005037732]	Chr6:10410301..10410302 [GRCh38] Chr6:10410534..10410535 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.44A>C (p.Asp15Ala)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037733]	Chr6:10414948 [GRCh38] Chr6:10415181 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.771-20C>T	single nucleotide variant	not provided [RCV005064325]	Chr6:10402630 [GRCh38] Chr6:10402863 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.80C>T (p.Thr27Met)	single nucleotide variant	not provided [RCV005175088]	Chr6:10410307 [GRCh38] Chr6:10410540 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1079C>G (p.Pro360Arg)	single nucleotide variant	not provided [RCV005054809]	Chr6:10398658 [GRCh38] Chr6:10398891 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.593A>G (p.Asn198Ser)	single nucleotide variant	not provided [RCV005063638]	Chr6:10404685 [GRCh38] Chr6:10404918 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.539-17C>G	single nucleotide variant	not provided [RCV005088682]	Chr6:10404756 [GRCh38] Chr6:10404989 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.770+11G>A	single nucleotide variant	not provided [RCV005087935]	Chr6:10404497 [GRCh38] Chr6:10404730 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.781A>G (p.Lys261Glu)	single nucleotide variant	Branchiooculofacial syndrome [RCV005229651]	Chr6:10402600 [GRCh38] Chr6:10402833 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.264C>T (p.His88=)	single nucleotide variant	not provided [RCV005065464]	Chr6:10410123 [GRCh38] Chr6:10410356 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.739A>T (p.Asn247Tyr)	single nucleotide variant	not provided [RCV005086703]	Chr6:10404539 [GRCh38] Chr6:10404772 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.107T>G (p.Val36Gly)	single nucleotide variant	not provided [RCV005227359]	Chr6:10410280 [GRCh38] Chr6:10410513 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.487-19G>C	single nucleotide variant	not provided [RCV005064480]	Chr6:10406863 [GRCh38] Chr6:10407096 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1269C>A (p.His423Gln)	single nucleotide variant	Branchiooculofacial syndrome [RCV005037725]	Chr6:10398468 [GRCh38] Chr6:10398701 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.1039del (p.Cys347fs)	deletion	Branchiooculofacial syndrome [RCV005037726]	Chr6:10398698 [GRCh38] Chr6:10398931 [GRCh37] Chr6:6p24.3	likely pathogenic
NM_001372066.1(TFAP2A):c.770+11G>C	single nucleotide variant	not provided [RCV005130555]	Chr6:10404497 [GRCh38] Chr6:10404730 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1194G>A (p.Thr398=)	single nucleotide variant	not provided [RCV005140761]	Chr6:10398543 [GRCh38] Chr6:10398776 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.322G>C (p.Gly108Arg)	single nucleotide variant	not provided [RCV005153019]	Chr6:10410065 [GRCh38] Chr6:10410298 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.260T>G (p.Leu87Arg)	single nucleotide variant	not provided [RCV005164361]	Chr6:10410127 [GRCh38] Chr6:10410360 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.262C>G (p.His88Asp)	single nucleotide variant	not provided [RCV005143097]	Chr6:10410125 [GRCh38] Chr6:10410358 [GRCh37] Chr6:6p24.3	uncertain significance
NM_001372066.1(TFAP2A):c.890-6T>C	single nucleotide variant	not provided [RCV005191370]	Chr6:10400595 [GRCh38] Chr6:10400828 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1149C>A (p.Leu383=)	single nucleotide variant	not provided [RCV005139251]	Chr6:10398588 [GRCh38] Chr6:10398821 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.381G>A (p.Arg127=)	single nucleotide variant	not provided [RCV005165049]	Chr6:10410006 [GRCh38] Chr6:10410239 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.472A>G (p.Ile158Val)	single nucleotide variant	not provided [RCV005184808]	Chr6:10409915 [GRCh38] Chr6:10410148 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1031+14C>T	single nucleotide variant	not provided [RCV005113002]	Chr6:10400434 [GRCh38] Chr6:10400667 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.764T>C (p.Leu255Pro)	single nucleotide variant	not provided [RCV005200544]	Chr6:10404514 [GRCh38] Chr6:10404747 [GRCh37] Chr6:6p24.3	uncertain significance

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR27B	hsa-miR-27b-3p	OncomiRDB	external_info	NA	NA	21922148

Predicted Target Of

	Summary Value
Count of predictions:	6586
Count of miRNA genes:	1269
Interacting mature miRNAs:	1598
Transcripts:	ENST00000319516, ENST00000379604, ENST00000379608, ENST00000379613, ENST00000461628, ENST00000462727, ENST00000464323, ENST00000465858, ENST00000466073, ENST00000473652, ENST00000474952, ENST00000475264, ENST00000478375, ENST00000482890, ENST00000486038, ENST00000488193, ENST00000489805, ENST00000490875, ENST00000497266, ENST00000498450
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597416666	GWAS1512740_H	human papilloma virus infection, oropharynx cancer QTL GWAS1512740 (human)		0.000001	human papilloma virus infection, oropharynx cancer		6	10415901	10415902	Human
2289408	BW324_H	Body weight QTL 324 (human)	3.15	0.0001	Body fat amount		6	1	20803913	Human
406970467	GWAS619443_H	sporadic amyotrophic lateral sclerosis QTL GWAS619443 (human)		0.000003	sporadic amyotrophic lateral sclerosis		6	10403417	10403418	Human
1643418	BW282_H	Body Weight QTL 282 (human)	2.07	0.001	Body weight		6	1	19321359	Human
597416670	GWAS1512744_H	human papilloma virus infection, oral cavity cancer QTL GWAS1512744 (human)		0.000004	human papilloma virus infection, oral cavity cancer		6	10415901	10415902	Human
1643377	BW325_H	Body weight QTL 325 (human)	2.32	0.0005	Body fat amount		6	6911960	32911960	Human
1643569	GLUCO21_H	Glucose level QTL 21 (human)		0.021	Glucose level	non-insulin-dependent	6	6911960	32911960	Human
1298458	BW9_H	Body weight QTL 9 (human)	2.7	0.0002	Body fat amount		6	6911960	32911960	Human
597112574	GWAS1208648_H	ovarian carcinoma QTL GWAS1208648 (human)		0.000006	ovarian carcinoma		6	10403963	10403964	Human
2289320	BW390_H	Body weight QTL 390 (human)	2.13		Body weight	BMI	6	1	19321359	Human
597388689	GWAS1484763_H	squamous cell lung carcinoma QTL GWAS1484763 (human)		0.000002	squamous cell lung carcinoma		6	10414773	10414774	Human
1358854	MULTSCL4_H	Multiple sclerosis susceptibility QTL 4 (human)			Multiple sclerosis susceptibility		6	6911960	32911960	Human
2289435	BMD4_H	Bone mineral density QTL 4 (human)	3.15	0.0001	Bone mineral density		6	1	20803913	Human
2292824	PRSTS5_H	Prostate tumor susceptibility QTL 5 (human)			Prostate tumor susceptibility		6	1	19232373	Human
1643495	BW291_H	Body Weight QTL 291 (human)	2.13		Body weight	BMI	6	1	19321359	Human
1643399	BMD5_H	Bone mineral density QTL 5 (human)	2.32	0.0005	Bone mineral density		6	6911960	32911960	Human

RH68004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,416,075 - 10,416,186	UniSTS	GRCh37
Build 36	6	10,524,061 - 10,524,172	RGD	NCBI36
Celera	6	11,644,551 - 11,644,662	RGD
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	6	p24	UniSTS
HuRef	6	10,291,827 - 10,291,938	UniSTS
GeneMap99-GB4 RH Map	6	47.73	UniSTS
NCBI RH Map	6	114.4	UniSTS

RH91941

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,415,968 - 10,416,137	UniSTS	GRCh37
Build 36	6	10,523,954 - 10,524,123	RGD	NCBI36
Celera	6	11,644,444 - 11,644,613	RGD
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	6	p24	UniSTS
HuRef	6	10,291,720 - 10,291,889	UniSTS
GeneMap99-GB4 RH Map	6	47.73	UniSTS

RH102877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,397,723 - 10,397,866	UniSTS	GRCh37
Build 36	6	10,505,709 - 10,505,852	RGD	NCBI36
Celera	6	11,626,201 - 11,626,344	RGD
Cytogenetic Map	6	p24	UniSTS
HuRef	6	10,273,478 - 10,273,621	UniSTS
GeneMap99-GB4 RH Map	6	47.73	UniSTS

TFAP2A

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,412,043 - 10,412,258	UniSTS	GRCh37
Build 36	6	10,520,029 - 10,520,244	RGD	NCBI36
Celera	6	11,640,521 - 11,640,736	RGD
HuRef	6	10,287,798 - 10,288,013	UniSTS

TFAP2A_7217

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,398,298 - 10,398,937	UniSTS	GRCh37
Build 36	6	10,506,284 - 10,506,923	RGD	NCBI36
Celera	6	11,626,776 - 11,627,415	RGD
HuRef	6	10,274,053 - 10,274,692	UniSTS

RH17802

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,398,209 - 10,398,344	UniSTS	GRCh37
Build 36	6	10,506,195 - 10,506,330	RGD	NCBI36
Celera	6	11,626,687 - 11,626,822	RGD
Cytogenetic Map	6	p24	UniSTS
HuRef	6	10,273,964 - 10,274,099	UniSTS
GeneMap99-GB4 RH Map	6	49.55	UniSTS
NCBI RH Map	6	114.4	UniSTS

G15872

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	10,398,437 - 10,398,586	UniSTS	GRCh37
Build 36	6	10,506,423 - 10,506,572	RGD	NCBI36
Celera	6	11,626,915 - 11,627,064	RGD
Cytogenetic Map	6	p24	UniSTS
HuRef	6	10,274,192 - 10,274,341	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2428	2753	2239	4926	1648	2269	5	553	1555	394	2263	6769	6056	48	3687	1	845	1736	1604	173	1


RefSeq Transcripts	NG_016151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001032280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001042425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001372066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK296737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY033397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM714893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB990517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ794945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M36711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M61156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X52611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X77343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X95235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000319516 ⟹ ENSP00000316516

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,397,872 - 10,419,638 (-)	Ensembl

Ensembl Acc Id:

ENST00000379608 ⟹ ENSP00000368928

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,396,677 - 10,412,391 (-)	Ensembl

Ensembl Acc Id:

ENST00000379613 ⟹ ENSP00000368933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,396,677 - 10,415,074 (-)	Ensembl

Ensembl Acc Id:

ENST00000461628 ⟹ ENSP00000417735

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,393,186 - 10,404,594 (-)	Ensembl

Ensembl Acc Id:

ENST00000462727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,406,794 - 10,410,942 (-)	Ensembl

Ensembl Acc Id:

ENST00000464323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,409,086 - 10,419,554 (-)	Ensembl

Ensembl Acc Id:

ENST00000465858 ⟹ ENSP00000418391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,409,997 - 10,412,879 (-)	Ensembl

Ensembl Acc Id:

ENST00000466073 ⟹ ENSP00000417495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,398,602 - 10,414,985 (-)	Ensembl

Ensembl Acc Id:

ENST00000473652

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,404,668 - 10,419,659 (-)	Ensembl

Ensembl Acc Id:

ENST00000474952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,406,136 - 10,412,046 (-)	Ensembl

Ensembl Acc Id:

ENST00000475264 ⟹ ENSP00000419696

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,400,714 - 10,410,094 (-)	Ensembl

Ensembl Acc Id:

ENST00000478375

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,402,026 - 10,414,985 (-)	Ensembl

Ensembl Acc Id:

ENST00000482890 ⟹ ENSP00000418541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,398,013 - 10,416,190 (-)	Ensembl

Ensembl Acc Id:

ENST00000486038

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,418,189 - 10,419,623 (-)	Ensembl

Ensembl Acc Id:

ENST00000488193 ⟹ ENSP00000419823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,397,915 - 10,415,206 (-)	Ensembl

Ensembl Acc Id:

ENST00000489805 ⟹ ENSP00000420568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,397,410 - 10,412,175 (-)	Ensembl

Ensembl Acc Id:

ENST00000490875

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,404,621 - 10,417,207 (-)	Ensembl

Ensembl Acc Id:

ENST00000497266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,398,688 - 10,411,018 (-)	Ensembl

Ensembl Acc Id:

ENST00000498450 ⟹ ENSP00000419961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	10,402,538 - 10,415,000 (-)	Ensembl

RefSeq Acc Id:

NM_001032280 ⟹ NP_001027451

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,396,677 - 10,412,391 (-)	NCBI
GRCh37	6	10,393,419 - 10,419,797 (-)	NCBI
Build 36	6	10,504,902 - 10,520,593 (-)	NCBI Archive
HuRef	6	10,272,671 - 10,295,552 (-)	ENTREZGENE
CHM1_1	6	10,399,160 - 10,414,850 (-)	NCBI
T2T-CHM13v2.0	6	10,264,407 - 10,280,122 (-)	NCBI

Sequence:

show sequence

ACACTTTCTTTCTCACACACGCACGCAGACACATTCTCCCTCTCTGCGCTCTCTCCTTCGGTCTCCCTCTCTGCCTCTTTCTCTTTCACTTTTGCATGCCCTGCAACCTTTTAAAATGTTGCCCCTTC
CCTGTGATTCGCCAGACGCCGCGCCGCGGCCCCCCGCGCGCTCGCCCGCTCCCTCTCTCGCTCGCTTTTTGTCTCTCGCGCTCCCTCTCCCCACTCCGATTTGCTACACTGAGACTCCCGTCAATGGA
CTGCATTGAGAGCCGGCTCCGGCGCGAGTTGCCTCTCCGCTTCACGCTCGATTTCCAGGCATTCTTCCCTTATTAAGTATTCGTGTAATATTAATAGTCATGAATATCTGCTATTAGGAGGCTCCAGG
AACGCTGCCCAGCGCGGTTATTAGAAGCTCAAGCGAAGCCGCCGCTAAGAAAAGAGGGGGAGACACGGATTAAGGAACACGCACGCACCCACACACTCACACATACTTTTTCCTTTTTCCTTTTTTGG
GGTTTTTCATTTTTAAAGAACTTTGAATCATAACCAGTCGCGGCAGGATAGAGACCGTGGGTTCGACCAGCTGAAGGCGCCGCGCGAATCGGTGGTTCAAGTTCGGATGGATCCGAGCCGGGCTCCCG
CGCTCCGGGGAGCGTCGGCGCCGTGACTGGAGTCCTGGGTGGCGCGGGGCTCTCGGCGCCTTTTGTGTGGGGCGCGCTCGGGCGGCGGGGCAGCCGGGCGCTCCAGGCTTGCTTGTTTTTTTCCACCC
TGACTCGTTACCCCAGACTCTTCGCAGATGTTAGTTCACAGTTTTTCAGCCATGGACCGTCACGACGGCACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAGGTCAATCTCCCTACAC
GAGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCACCCTACCAGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAACGACCCCTACAGCCTGA
ACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGGCAGAGCCAGGAGTCTGGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGGCCTGGATCCTCGCAGG
GACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGCTCAGGACTCGGAGACCTCTCGATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAGAAGACCCGGGTATTAA
CATCCCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAAGTCCAACAGCAATGCCGTCTCCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTGAACCCCAACGAAGTCT
TCTGTTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGCGGAAGTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCTGCTGGGCGGAGTGCTC
CGGAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAAATCTGCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACATCACTAGTAGAGGGAGA
AGCTGTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTAGCTGAATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACAAGAAAAAACATGCTCC
TGGCTACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGGGAACTCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTTGACCCACTTCAACCTC
ATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAACTATCTCACCGAGGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCAACAGCCACACGGACAA
CAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTCTCCTCCCGCCCCGCCCCTCCCACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGACAGCTCCGGGATCAGCA
ACCCTTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCCGCCGCTGCCCTTGGGTCCCCCCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCTCTCCGACTCTGCACCC
GCCTCGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAGCCTAAGAGAACAGAACAGGCCGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTTTTTTTTTTAAACAAAA
CAACAAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTTTCTAAAAAAAAAGTGAAAATAAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCCCTTACATACTTCAGTT
CAGATTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGACAACATTTTTATCAGTATTGTGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCTTCAGTTGTAGAAGTTT
TTCCTCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACGATTCGCAGTTATATAAGGGAATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTAATGGGAATTGTAAATA
TGGTGAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTTTACCTCTTGTTTAGTGGGTTTTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGATTTAGAAATCCAGTGTT
TGGGGGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCATGTTAAAGGTGACAAACAGCTGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTAGTATTATTACATTTAG
CTTTTCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGATTTTGAAACTTGAGTGGTTTGATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATTTTATTCCACTGTCCTC
CCTTAAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAAGGGTTAGGGAATTTTCCTCTCTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACATTTGGGACCACCTGGT
ATTCTGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGTATTGAGTTGTGCTGGCAGTAGTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGATAAATAAATATTTGATA
CGCTTTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCGTATTTTTGTTCTTGGCAGTATTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCTTGGCAATTGCTCCTTG
CAATAAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTACTTTCAACTTGGAGTTCAGAGCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAAATGACACAATAAAACC
CAATGTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGACATACTGTCTTTTCCTTACTAGAAACATTAATTTTATTATTAAAAATAAAGTTTTATTTTATTTATGTTGA

hide sequence

RefSeq Acc Id:

NM_001042425 ⟹ NP_001035890

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,396,677 - 10,419,659 (-)	NCBI
GRCh37	6	10,393,419 - 10,419,797 (-)	NCBI
Build 36	6	10,504,902 - 10,527,783 (-)	NCBI Archive
HuRef	6	10,272,671 - 10,295,552 (-)	ENTREZGENE
CHM1_1	6	10,399,160 - 10,422,046 (-)	NCBI
T2T-CHM13v2.0	6	10,264,407 - 10,287,386 (-)	NCBI

Sequence:

show sequence

GTGCGGCGCTGGGACTGCAGCTGGCGGAGTGAATTCCTGGGCCAGCGCGCATGCGTCGGCAGGTAGCAACCCAGCTCTTTATGACCAGGTGAGATGTTGGTGAGCAGGTAAAAAAGGAGGATTTGCCT
AAGCGATTCCAGGGAGCTGGCCCGACCGAGCCCTCCAGCCCATGCCCGGCGGGGACCAGTCGCCAGGAGCGCAGAGCCGCGATGTCCATACTTGCCAAAATGGGGGACTGGCAGGACCGTCACGACGG
CACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAGGTCAATCTCCCTACACGAGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCACCCTACC
AGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAACGACCCCTACAGCCTGAACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGGCAGAGCCAGGAGTCT
GGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGGCCTGGATCCTCGCAGGGACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGCTCAGGACTCGGAGACCTCTC
GATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAGAAGACCCGGGTATTAACATCCCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAAGTCCAACAGCAATGCCGTCT
CCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTGAACCCCAACGAAGTCTTCTGTTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGCGGAA
GTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCTGCTGGGCGGAGTGCTCCGGAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAAATCT
GCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACATCACTAGTAGAGGGAGAAGCTGTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTAGCTG
AATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACAAGAAAAAACATGCTCCTGGCTACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGGGAAC
TCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTTGACCCACTTCAACCTCATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAACTATCTCACCGA
GGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCAACAGCCACACGGACAACAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTCTCCTCCCGCCCCGCCCCTCC
CACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGACAGCTCCGGGATCAGCAACCCTTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCCGCCGCTGCCCTTGGGTCCCC
CCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCTCTCCGACTCTGCACCCGCCTCGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAGCCTAAGAGAACAGAACAGGC
CGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTTTTTTTTTTAAACAAAACAACAAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTTTCTAAAAAAAAAGTGAAAAT
AAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCCCTTACATACTTCAGTTCAGATTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGACAACATTTTTATCAGTATTG
TGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCTTCAGTTGTAGAAGTTTTTCCTCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACGATTCGCAGTTATATAAGGGA
ATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTAATGGGAATTGTAAATATGGTGAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTTTACCTCTTGTTTAGTGGGTT
TTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGATTTAGAAATCCAGTGTTTGGGGGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCATGTTAAAGGTGACAAACAGC
TGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTAGTATTATTACATTTAGCTTTTCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGATTTTGAAACTTGAGTGGTTT
GATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATTTTATTCCACTGTCCTCCCTTAAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAAGGGTTAGGGAATTTTCCTCT
CTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACATTTGGGACCACCTGGTATTCTGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGTATTGAGTTGTGCTGGCAGTA
GTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGATAAATAAATATTTGATACGCTTTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCGTATTTTTGTTCTTGGCAGTA
TTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCTTGGCAATTGCTCCTTGCAATAAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTACTTTCAACTTGGAGTTCAGA
GCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAAATGACACAATAAAACCCAATGTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGACATACTGTCTTTTCCTTACT
AGAAACATTAATTTTATTATTAAAAATAAAGTTTTATTTTATTTATGTTGA

hide sequence

RefSeq Acc Id:

NM_001372066 ⟹ NP_001358995

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,396,677 - 10,415,074 (-)	NCBI
T2T-CHM13v2.0	6	10,264,407 - 10,282,798 (-)	NCBI

Sequence:

show sequence

GGCAGCCAGCACTTTGCGCTCACCCAGAGAGTAGCTCCACTTGGGTGCGAGACCGAGAGGGGCA
TATCCGTTCACGCCGATCCATGAAAATGCTTTGGAAATTGACGGATAATATCAAGTACGAGGACTGCGAGGACCGTCACGACGGCACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAG
GTCAATCTCCCTACACGAGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCACCCTACCAGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAAC
GACCCCTACAGCCTGAACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGGCAGAGCCAGGAGTCTGGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGG
CCTGGATCCTCGCAGGGACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGCTCAGGACTCGGAGACCTCTCGATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAG
AAGACCCGGGTATTAACATCCCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAAGTCCAACAGCAATGCCGTCTCCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTG
AACCCCAACGAAGTCTTCTGTTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGCGGAAGTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCT
GCTGGGCGGAGTGCTCCGGAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAAATCTGCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACAT
CACTAGTAGAGGGAGAAGCTGTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTAGCTGAATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACA
AGAAAAAACATGCTCCTGGCTACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGGGAACTCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTT
GACCCACTTCAACCTCATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAACTATCTCACCGAGGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCA
ACAGCCACACGGACAACAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTCTCCTCCCGCCCCGCCCCTCCCACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGAC
AGCTCCGGGATCAGCAACCCTTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCCGCCGCTGCCCTTGGGTCCCCCCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCT
CTCCGACTCTGCACCCGCCTCGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAGCCTAAGAGAACAGAACAGGCCGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTT
TTTTTTTTAAACAAAACAACAAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTTTCTAAAAAAAAAGTGAAAATAAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCC
CTTACATACTTCAGTTCAGATTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGACAACATTTTTATCAGTATTGTGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCT
TCAGTTGTAGAAGTTTTTCCTCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACGATTCGCAGTTATATAAGGGAATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTA
ATGGGAATTGTAAATATGGTGAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTTTACCTCTTGTTTAGTGGGTTTTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGAT
TTAGAAATCCAGTGTTTGGGGGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCATGTTAAAGGTGACAAACAGCTGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTA
GTATTATTACATTTAGCTTTTCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGATTTTGAAACTTGAGTGGTTTGATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATT
TTATTCCACTGTCCTCCCTTAAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAAGGGTTAGGGAATTTTCCTCTCTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACA
TTTGGGACCACCTGGTATTCTGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGTATTGAGTTGTGCTGGCAGTAGTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGAT
AAATAAATATTTGATACGCTTTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCGTATTTTTGTTCTTGGCAGTATTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCT
TGGCAATTGCTCCTTGCAATAAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTACTTTCAACTTGGAGTTCAGAGCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAA
ATGACACAATAAAACCCAATGTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGACATACTGTCTTTTCCTTACTAGAAACATTAATTTTATTATTAAAAATAAAGTTTTATTTTATTT
ATGTTGA

hide sequence


Protein RefSeqs	NP_001027451	(Get FASTA)	NCBI Sequence Viewer
	NP_001035890	(Get FASTA)	NCBI Sequence Viewer
	NP_001358995	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA02487	(Get FASTA)	NCBI Sequence Viewer
	AAA35539	(Get FASTA)	NCBI Sequence Viewer
	AAH17754	(Get FASTA)	NCBI Sequence Viewer
	AAK54356	(Get FASTA)	NCBI Sequence Viewer
	ACN93799	(Get FASTA)	NCBI Sequence Viewer
	BAH12422	(Get FASTA)	NCBI Sequence Viewer
	CAA36842	(Get FASTA)	NCBI Sequence Viewer
	CAA64522	(Get FASTA)	NCBI Sequence Viewer
	CAB59735	(Get FASTA)	NCBI Sequence Viewer
	EAW55248	(Get FASTA)	NCBI Sequence Viewer
	EAW55249	(Get FASTA)	NCBI Sequence Viewer
	EAW55250	(Get FASTA)	NCBI Sequence Viewer
	EAW55251	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316516
	ENSP00000316516.4
	ENSP00000368928
	ENSP00000368928.3
	ENSP00000368933
GenBank Protein	P05549	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001035890 ⟸ NM_001042425
- Peptide Label:	isoform c
- UniProtKB:	Q8N1C6 (UniProtKB/Swiss-Prot), Q5TAV5 (UniProtKB/Swiss-Prot), Q13777 (UniProtKB/Swiss-Prot), P05549 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHED LLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKN GGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGS PAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK hide sequence

RefSeq Acc Id:	NP_001027451 ⟸ NM_001032280
- Peptide Label:	isoform b
- UniProtKB:	Q8N1C6 (UniProtKB/Swiss-Prot), Q5TAV5 (UniProtKB/Swiss-Prot), Q13777 (UniProtKB/Swiss-Prot), P05549 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVHSFSAMDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQ DPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKD NLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHS DPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK hide sequence

RefSeq Acc Id:	NP_001358995 ⟸ NM_001372066
- Peptide Label:	isoform a
- UniProtKB:	Q8N1C6 (UniProtKB/Swiss-Prot), Q5TAV5 (UniProtKB/Swiss-Prot), Q13777 (UniProtKB/Swiss-Prot), P05549 (UniProtKB/Swiss-Prot), A0A6E1XE14 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000418391 ⟸ ENST00000465858

Ensembl Acc Id:

ENSP00000417495 ⟸ ENST00000466073

Protein Domains

Transcription factor AP-2 C-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P05549-F1-model_v2	AlphaFold	P05549	1-437	view protein structure

RGD ID:

6872004

Promoter ID:

EPDNEW_H9167

Type:

initiation region

Name:

TFAP2A_4

Description:

transcription factor AP-2 alpha

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9168 EPDNEW_H9169 EPDNEW_H9170

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,412,166 - 10,412,226	EPDNEW

RGD ID:

6872006

Promoter ID:

EPDNEW_H9168

Type:

initiation region

Name:

TFAP2A_1

Description:

transcription factor AP-2 alpha

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9167 EPDNEW_H9169 EPDNEW_H9170

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,412,389 - 10,412,449	EPDNEW

RGD ID:

6872008

Promoter ID:

EPDNEW_H9169

Type:

initiation region

Name:

TFAP2A_2

Description:

transcription factor AP-2 alpha

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9167 EPDNEW_H9168 EPDNEW_H9170

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,415,071 - 10,415,131	EPDNEW

RGD ID:

6872010

Promoter ID:

EPDNEW_H9170

Type:

multiple initiation site

Name:

TFAP2A_3

Description:

transcription factor AP-2 alpha

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9167 EPDNEW_H9168 EPDNEW_H9169

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	10,415,265 - 10,415,325	EPDNEW

RGD ID:

6813065

Promoter ID:

HG_ACW:67274

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

SEYJO.AAPR07, TFAP2A.OAPR07-UNSPLICED

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,505,986 - 10,506,486 (+)	MPROMDB

RGD ID:

6813103

Promoter ID:

HG_ACW:67277

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

TFAP2A.GAPR07, TFAP2A.HAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,517,986 - 10,518,486 (-)	MPROMDB

RGD ID:

6804851

Promoter ID:

HG_KWN:52286

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Lymphoblastoid, NB4

Transcripts:

NM_001032280, UC003MYV.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,519,831 - 10,521,037 (-)	MPROMDB

RGD ID:

6804852

Promoter ID:

HG_KWN:52289

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_003220, UC003MYS.1, UC003MYU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,523,386 - 10,523,886 (-)	MPROMDB

RGD ID:

6804857

Promoter ID:

HG_KWN:52290

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000039818

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,525,236 - 10,525,887 (-)	MPROMDB

RGD ID:

6804854

Promoter ID:

HG_KWN:52291

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, NB4

Transcripts:

OTTHUMT00000039817

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	10,527,914 - 10,528,414 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TFAP2A	COSMIC
Ensembl Genes	ENSG00000137203	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000319516	ENTREZGENE
	ENST00000319516.8	UniProtKB/Swiss-Prot
	ENST00000379608	ENTREZGENE
	ENST00000379608.9	UniProtKB/Swiss-Prot
	ENST00000379613	ENTREZGENE
GTEx	ENSG00000137203	GTEx
HGNC ID	HGNC:11742	ENTREZGENE
Human Proteome Map	TFAP2A	Human Proteome Map
InterPro	TF_AP2	UniProtKB/Swiss-Prot
	TF_AP2_alpha_N	UniProtKB/Swiss-Prot
	TF_AP2_C	UniProtKB/Swiss-Prot
KEGG Report	hsa:7020	UniProtKB/Swiss-Prot
NCBI Gene	7020	ENTREZGENE
OMIM	107580	OMIM
PANTHER	PTHR10812	UniProtKB/Swiss-Prot
	TRANSCRIPTION FACTOR AP-2-ALPHA	UniProtKB/Swiss-Prot
Pfam	TF_AP-2	UniProtKB/Swiss-Prot
PharmGKB	PA36459	PharmGKB
PRINTS	AP2ATNSCPFCT	UniProtKB/Swiss-Prot
	AP2TNSCPFCT	UniProtKB/Swiss-Prot
UniProt	A0A6E1XE14	ENTREZGENE, UniProtKB/TrEMBL
	AP2A_HUMAN	UniProtKB/Swiss-Prot
	C1K3N0_HUMAN	UniProtKB/TrEMBL
	C9J6N8_HUMAN	UniProtKB/TrEMBL
	C9JXZ2_HUMAN	UniProtKB/TrEMBL
	F8WDC8_HUMAN	UniProtKB/TrEMBL
	F8WEX2_HUMAN	UniProtKB/TrEMBL
	H7C4N4_HUMAN	UniProtKB/TrEMBL
	H7C5E5_HUMAN	UniProtKB/TrEMBL
	P05549	ENTREZGENE
	Q13777	ENTREZGENE
	Q5TAV5	ENTREZGENE
	Q8N1C6	ENTREZGENE
UniProt Secondary	Q13777	UniProtKB/Swiss-Prot
	Q5TAV5	UniProtKB/Swiss-Prot
	Q8N1C6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	TFAP2A	transcription factor AP-2 alpha		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar