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

Analyze

Symbol:

TFAP2A

Name:

transcription factor AP-2 alpha

RGD ID:

1321067

HGNC Page

HGNC:11742

Description:

Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding activity; and nuclear receptor corepressor 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

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

amblyopia (IAGP)

branchiooculofacial syndrome (IAGP)

branchiootorenal syndrome (EXP,IAGP)

Breast Neoplasms (EXP)

cataract 13 with adult i phenotype (IAGP)

Craniofacial Abnormalities (EXP)

dilated cardiomyopathy (IEP)

esotropia (IAGP)

Eye Abnormalities (EXP)

genetic disease (IAGP)

Hypertelorism (IAGP)

IRIS COLOBOMA (IAGP)

kidney disease (EXP)

lens subluxation (IAGP)

microphthalmia (IAGP)

Neurodevelopmental Disorders (IAGP)

orofacial cleft (ISS)

pathologic nystagmus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

1,2-dimethylhydrazine (ISO)

14-Deoxy-11,12-didehydroandrographolide (EXP)

15-acetyldeoxynivalenol (EXP)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

3-isobutyl-1-methyl-7H-xanthine (ISO)

4,4'-sulfonyldiphenol (ISO)

4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine (ISO)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

afimoxifene (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

amitrole (ISO)

antimycin A (EXP)

antirheumatic drug (EXP)

Arg-Gly-Asp (EXP)

arotinoid acid (EXP)

arsenite(3-) (EXP)

belinostat (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

Bisphenol A diglycidyl ether (ISO)

bisphenol F (ISO)

butan-1-ol (EXP)

butanal (EXP)

Butylbenzyl phthalate (EXP)

cadmium atom (ISO)

calcitriol (EXP)

cannabidiol (ISO)

carboplatin (EXP)

CHIR 99021 (EXP)

chlorpyrifos (ISO)

choline (ISO)

cidofovir anhydrous (EXP)

cisplatin (EXP)

clodronic acid (EXP)

clomiphene (EXP)

cortisol (EXP)

coumarin (EXP)

Cuprizon (ISO)

cycloheximide (EXP)

cyclosporin A (EXP)

cytarabine (ISO)

decabromodiphenyl ether (EXP)

dexamethasone (ISO)

dibutyl phthalate (EXP)

diethylstilbestrol (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

erlotinib hydrochloride (EXP)

ethanol (EXP)

etoposide (EXP)

fenpropidin (ISO)

flusilazole (ISO)

folic acid (ISO)

fulvestrant (EXP)

furan (ISO)

gefitinib (EXP)

gemcitabine (EXP)

genistein (EXP)

gentamycin (ISO)

geraniol (EXP)

glycidyl methacrylate (EXP)

glyphosate (ISO)

hexestrol (EXP)

ifosfamide (EXP)

imidacloprid (ISO)

indinavir (ISO)

kahweol (EXP)

L-ascorbic acid (EXP)

L-ascorbic acid 2-phosphate (EXP)

L-methionine (ISO)

lipopolysaccharide (EXP)

manganese atom (ISO)

manganese(0) (ISO)

mercury dibromide (EXP)

mestranol (EXP)

methamphetamine (ISO)

methimazole (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

methylparaben (EXP)

mitomycin C (EXP)

N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide (EXP)

nickel subsulfide (EXP)

Octicizer (EXP)

ozone (EXP,ISO)

p-chloromercuribenzoic acid (EXP)

paclitaxel (EXP)

panobinostat (EXP)

paracetamol (EXP)

paraquat (EXP)

paroxetine (EXP)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenylmercury acetate (EXP)

phorbol 13-acetate 12-myristate (EXP)

picoxystrobin (EXP)

pirinixic acid (ISO)

raloxifene (EXP,ISO)

resveratrol (EXP)

rotenone (EXP)

rottlerin (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

sertraline (EXP)

sodium arsenite (EXP)

spiroxamine (ISO)

stavudine (ISO)

streptozocin (ISO)

sulfadimethoxine (ISO)

temozolomide (EXP)

testosterone (EXP)

Tetrachlorobisphenol A (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

troglitazone (EXP)

tyrphostin AG 1478 (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

vorinostat (EXP)

XAV939 (EXP)

zidovudine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anterior neuropore closure (ISO)

basement membrane organization (ISO)

bone morphogenesis (ISS)

cell population proliferation (ISO)

cellular response to iron ion (IDA)

cornea development in camera-type eye (ISO)

embryonic body morphogenesis (ISO)

embryonic camera-type eye morphogenesis (ISO)

embryonic cranial skeleton morphogenesis (ISO,ISS)

embryonic forelimb morphogenesis (ISS)

embryonic pattern specification (ISO)

epidermal growth factor receptor signaling pathway (ISO)

epidermis morphogenesis (ISO)

eyelid development in camera-type eye (ISS)

face morphogenesis (ISO)

fibroblast migration (ISO)

forebrain neuron development (ISO)

forelimb morphogenesis (ISO)

inner ear morphogenesis (IMP)

keratinocyte development (ISO)

kidney development (IBA,IMP)

lens induction in camera-type eye (ISO)

lens morphogenesis in camera-type eye (ISO)

metanephric nephron development (ISO)

negative regulation of apoptotic process (IBA,IDA)

negative regulation of cell population proliferation (IDA,ISO)

negative regulation of DNA-templated transcription (IDA,IMP)

negative regulation of epidermal growth factor receptor signaling pathway (ISO)

negative regulation of neuron apoptotic process (ISO)

negative regulation of reactive oxygen species metabolic process (IDA)

negative regulation of transcription by competitive promoter binding (IDA,IMP)

negative regulation of transcription by RNA polymerase II (IDA)

nervous system development (IBA)

neural crest cell development (ISO)

neural tube closure (ISO)

neuron apoptotic process (ISO)

oculomotor nerve formation (ISS)

optic cup structural organization (ISS)

optic vesicle morphogenesis (ISS)

outflow tract morphogenesis (ISO)

positive regulation of bone mineralization (IDA)

positive regulation of DNA-templated transcription (IDA,ISS)

positive regulation of fibroblast migration (ISO)

positive regulation of gene expression (ISS)

positive regulation of neuron apoptotic process (IDA)

positive regulation of tooth mineralization (IDA)

positive regulation of transcription by RNA polymerase II (IBA,IDA,ISO)

regulation of cell differentiation (IDA)

regulation of cell population proliferation (IBA)

regulation of DNA-templated transcription (IEA,ISO)

regulation of neuron differentiation (ISO)

regulation of transcription by RNA polymerase II (ISO)

response to lipopolysaccharide (ISO)

retina layer formation (IEP)

roof of mouth development (IMP)

Schwann cell development (ISO)

sensory organ development (ISO)

sensory perception of sound (IMP)

skeletal system development (IBA)

skeletal system morphogenesis (ISO)

skin development (ISO)

sympathetic nervous system development (ISO)

transcription by RNA polymerase II (ISO)

trigeminal nerve development (ISS)

Cellular Component

chromatin (ISA)

clathrin-coated pit (ISO)

nucleoplasm (IDA,TAS)

nucleus (IBA,IDA,IEA,IMP)

Molecular Function

chromatin binding (ISS)

cis-regulatory region sequence-specific DNA binding (ISO)

DNA binding (IDA,IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IBA,IDA)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IDA,ISA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IDA)

identical protein binding (IPI)

obsolete nuclear receptor corepressor activity (IMP)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IDA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IBA)

sequence-specific DNA binding (IDA,IMP,ISO)

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (IDA)

transcription coactivator activity (ISO)

transcription corepressor activity (ISO)

transcription factor binding (ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pinna morphology (IAGP)

Abnormal speech pattern (IAGP)

Abnormality of the dentition (IAGP)

Abnormality of visual evoked potentials (IAGP)

Agenesis of cerebellar vermis (IAGP)

Amblyopia (IAGP)

Anophthalmia (IAGP)

Aplasia cutis congenita (IAGP)

Atypical scarring of skin (IAGP)

Autosomal dominant inheritance (IAGP)

Branchial anomaly (IAGP)

Broad nasal tip (IAGP)

Cataract (IAGP)

Cleft of chin (IAGP)

Cleft palate (IAGP)

Cleft upper lip (IAGP)

Clinodactyly of the 5th finger (IAGP)

Coloboma (IAGP)

Conductive hearing impairment (IAGP)

Cryptorchidism (IAGP)

Deep philtrum (IAGP)

Depressed nasal bridge (IAGP)

Dermal atrophy (IAGP)

Dermoid cyst (IAGP)

Dimple chin (IAGP)

Dolichocephaly (IAGP)

Ectopic thymus tissue (IAGP)

EEG abnormality (IAGP)

Elbow flexion contracture (IAGP)

Epicanthus (IAGP)

Esotropia (IAGP)

Everted lower lip vermilion (IAGP)

Facial palsy (IAGP)

Fingernail dysplasia (IAGP)

Fusion of middle ear ossicles (IAGP)

Gastroesophageal reflux (IAGP)

Hamartoma (IAGP)

Hearing impairment (IAGP)

Hemangioma (IAGP)

High palate (IAGP)

Hydronephrosis (IAGP)

Hyperlordosis (IAGP)

Hypernasal speech (IAGP)

Hypertelorism (IAGP)

Hypoplastic fingernail (IAGP)

Hypoplastic superior helix (IAGP)

Hypospadias (IAGP)

Intellectual disability, mild (IAGP)

Intrauterine growth retardation (IAGP)

Iris coloboma (IAGP)

Kyphosis (IAGP)

Lens subluxation (IAGP)

Low posterior hairline (IAGP)

Low-set ears (IAGP)

Lower lip pit (IAGP)

Malar flattening (IAGP)

Malrotation of colon (IAGP)

Microcephaly (IAGP)

Microcornea (IAGP)

Microdontia (IAGP)

Micrognathia (IAGP)

Microphthalmia (IAGP)

Microtia (IAGP)

Multicystic kidney dysplasia (IAGP)

Myopia (IAGP)

Nasolacrimal duct obstruction (IAGP)

Neurodevelopmental abnormality (IAGP)

Non-midline cleft of the upper lip (IAGP)

Nystagmus (IAGP)

Orofacial cleft (IAGP)

Overfolded helix (IAGP)

Postauricular pit (IAGP)

Posteriorly rotated ears (IAGP)

Postnatal growth retardation (IAGP)

Preauricular pit (IAGP)

Preaxial hand polydactyly (IAGP)

Premature graying of hair (IAGP)

Proximal placement of thumb (IAGP)

Ptosis (IAGP)

Pyloric stenosis (IAGP)

Renal agenesis (IAGP)

Renal cyst (IAGP)

Retinal coloboma (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Short nasal septum (IAGP)

Short neck (IAGP)

Short stature (IAGP)

Short thumb (IAGP)

Single transverse palmar crease (IAGP)

Small forehead (IAGP)

Sparse hair (IAGP)

Strabismus (IAGP)

Supernumerary nipple (IAGP)

Supraauricular pit (IAGP)

Telecanthus (IAGP)

Tooth agenesis (IAGP)

Upper lip pit (IAGP)

Upslanted palpebral fissure (IAGP)

White forelock (IAGP)

Wide intermamillary distance (IAGP)

Wide nasal bridge (IAGP)

References

References - curated

#	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

Additional References at PubMed

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: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: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

Genomics

Comparative Map Data

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

Variants in TFAP2A
196 total Variants

Clinical 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
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	likely pathogenic
NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp)	single nucleotide variant	Chromatinopathy [RCV001261299]\|Inborn genetic diseases [RCV000623378]	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	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.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	not provided [RCV002161420]	Chr6:10406797 [GRCh38] Chr6:10407030 [GRCh37] Chr6:6p24.3	likely benign
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	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	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	not provided [RCV002725823]	Chr6:10404549 [GRCh38] Chr6:10404782 [GRCh37] Chr6:6p24.3	likely benign
NM_001372066.1(TFAP2A):c.1193C>T (p.Thr398Met)	single nucleotide variant	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.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	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	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.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.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.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.835_836del (p.Pro279fs)	deletion	Branchiooculofacial syndrome [RCV003333711]	Chr6:10402545..10402546 [GRCh38] Chr6:10402778..10402779 [GRCh37] Chr6:6p24.3	pathogenic

miRNA Target Status

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
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
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
2289320	BW390_H	Body weight QTL 390 (human)	2.13		Body weight	BMI	6	1	19321359	Human
407401602	GWAS1050578_H	human papilloma virus infection, oropharynx cancer QTL GWAS1050578 (human)		0.000001	human papilloma virus infection, oropharynx cancer		6	10415901	10415902	Human
1358854	MULTSCL4_H	Multiple sclerosis susceptibility QTL 4 (human)			Multiple sclerosis susceptibility		6	6911960	32911960	Human
407242288	GWAS891264_H	squamous cell lung carcinoma QTL GWAS891264 (human)		0.000002	squamous cell lung carcinoma		6	10414773	10414774	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
406983647	GWAS632623_H	ovarian carcinoma QTL GWAS632623 (human)		0.000006	ovarian carcinoma		6	10403963	10403964	Human
407400693	GWAS1049669_H	human papilloma virus infection, oral cavity cancer QTL GWAS1049669 (human)		0.000004	human papilloma virus infection, oral cavity cancer		6	10415901	10415902	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

Markers in Region

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

Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences


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

ACACTTTCTTTCTCACACACGCACGCAGACACATTCTCCCTCTCTGCGCTCTCTCCTTCGGTCT
CCCTCTCTGCCTCTTTCTCTTTCACTTTTGCATGCCCTGCAACCTTTTAAAATGTTGCCCCTTC
CCTGTGATTCGCCAGACGCCGCGCCGCGGCCCCCCGCGCGCTCGCCCGCTCCCTCTCTCGCTCG
CTTTTTGTCTCTCGCGCTCCCTCTCCCCACTCCGATTTGCTACACTGAGACTCCCGTCAATGGA
CTGCATTGAGAGCCGGCTCCGGCGCGAGTTGCCTCTCCGCTTCACGCTCGATTTCCAGGCATTC
TTCCCTTATTAAGTATTCGTGTAATATTAATAGTCATGAATATCTGCTATTAGGAGGCTCCAGG
AACGCTGCCCAGCGCGGTTATTAGAAGCTCAAGCGAAGCCGCCGCTAAGAAAAGAGGGGGAGAC
ACGGATTAAGGAACACGCACGCACCCACACACTCACACATACTTTTTCCTTTTTCCTTTTTTGG
GGTTTTTCATTTTTAAAGAACTTTGAATCATAACCAGTCGCGGCAGGATAGAGACCGTGGGTTC
GACCAGCTGAAGGCGCCGCGCGAATCGGTGGTTCAAGTTCGGATGGATCCGAGCCGGGCTCCCG
CGCTCCGGGGAGCGTCGGCGCCGTGACTGGAGTCCTGGGTGGCGCGGGGCTCTCGGCGCCTTTT
GTGTGGGGCGCGCTCGGGCGGCGGGGCAGCCGGGCGCTCCAGGCTTGCTTGTTTTTTTCCACCC
TGACTCGTTACCCCAGACTCTTCGCAGATGTTAGTTCACAGTTTTTCAGCCATGGACCGTCACG
ACGGCACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAGGTCAATCTCCCTACAC
GAGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCACCC
TACCAGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAACGACCCCTACAGCCTGA
ACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGGCAGAGCCAGGA
GTCTGGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGGCCTGGATCCTCGCAGG
GACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGCTCAGGACTCGGAGACC
TCTCGATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAGAAGACCCGGGTATTAA
CATCCCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAAGTCCAACAGCAATGCC
GTCTCCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTGAACCCCAACGAAGTCT
TCTGTTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGC
GGAAGTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCTGCTGGGCGGAGTGCTC
CGGAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAA
ATCTGCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACATCACTAGTAGAGGGAGA
AGCTGTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTA
GCTGAATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACAAGAAAAAACATGCTCC
TGGCTACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGG
GAACTCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTTGACCCACTTCAACCTC
ATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAACTATCTCA
CCGAGGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCAACAGCCACACGGACAA
CAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTCTCCTCCCGCCCCGCCC
CTCCCACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGACAGCTCCGGGATCAGCA
ACCCTTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCCGCCGCTGCCCTTGGGT
CCCCCCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCTCTCCGACTCTGCACCC
GCCTCGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAGCCTAAGAGAACAGAAC
AGGCCGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTTTTTTTTTTAAACAAAA
CAACAAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTTTCTAAAAAAAAAGTGA
AAATAAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCCCTTACATACTTCAGTT
CAGATTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGACAACATTTTTATCAGT
ATTGTGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCTTCAGTTGTAGAAGTTT
TTCCTCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACGATTCGCAGTTATATAA
GGGAATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTAATGGGAATTGTAAATA
TGGTGAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTTTACCTCTTGTTTAGTG
GGTTTTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGATTTAGAAATCCAGTGTT
TGGGGGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCATGTTAAAGGTGACAAA
CAGCTGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTAGTATTATTACATTTAG
CTTTTCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGATTTTGAAACTTGAGTG
GTTTGATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATTTTATTCCACTGTCCTC
CCTTAAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAAGGGTTAGGGAATTTTC
CTCTCTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACATTTGGGACCACCTGGT
ATTCTGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGTATTGAGTTGTGCTGGC
AGTAGTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGATAAATAAATATTTGATA
CGCTTTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCGTATTTTTGTTCTTGGC
AGTATTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCTTGGCAATTGCTCCTTG
CAATAAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTACTTTCAACTTGGAGTT
CAGAGCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAAATGACACAATAAAACC
CAATGTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGACATACTGTCTTTTCCT
TACTAGAAACATTAATTTTATTATTAAAAATAAAGTTTTATTTTATTTATGTTGA

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

GTGCGGCGCTGGGACTGCAGCTGGCGGAGTGAATTCCTGGGCCAGCGCGCATGCGTCGGCAGGT
AGCAACCCAGCTCTTTATGACCAGGTGAGATGTTGGTGAGCAGGTAAAAAAGGAGGATTTGCCT
AAGCGATTCCAGGGAGCTGGCCCGACCGAGCCCTCCAGCCCATGCCCGGCGGGGACCAGTCGCC
AGGAGCGCAGAGCCGCGATGTCCATACTTGCCAAAATGGGGGACTGGCAGGACCGTCACGACGG
CACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAGGTCAATCTCCCTACACGAGC
GCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCCATACTTCCCCCCACCCTACC
AGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAACGACCCCTACAGCCTGAACCC
CCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCCAGAGGCAGAGCCAGGAGTCT
GGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGGCCTGGATCCTCGCAGGGACT
ACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGCTCAGGACTCGGAGACCTCTC
GATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAGAAGACCCGGGTATTAACATC
CCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAAGTCCAACAGCAATGCCGTCT
CCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTGAACCCCAACGAAGTCTTCTG
TTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGTACAAGGTCACGGTGGCGGAA
GTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCTGCTGGGCGGAGTGCTCCGGA
GGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTGGACAAAATAGGATTAAATCT
GCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACATCACTAGTAGAGGGAGAAGCT
GTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATTTCCTGCCAAAGCAGTAGCTG
AATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACAAGAAAAAACATGCTCCTGGC
TACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGGACCGATCTCCCCTGGGGAAC
TCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTTGACCCACTTCAACCTCATCT
CCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCCCTGCAGAACTATCTCACCGA
GGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCAACAGCCACACGGACAACAAC
GCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTCTCCTCCCGCCCCGCCCCTCC
CACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGACAGCTCCGGGATCAGCAACCC
TTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCCGCCGCTGCCCTTGGGTCCCC
CCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCTCTCCGACTCTGCACCCGCCT
CGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAGCCTAAGAGAACAGAACAGGC
CGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTTTTTTTTTTAAACAAAACAAC
AAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTTTCTAAAAAAAAAGTGAAAAT
AAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCCCTTACATACTTCAGTTCAGA
TTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGACAACATTTTTATCAGTATTG
TGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCTTCAGTTGTAGAAGTTTTTCC
TCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACGATTCGCAGTTATATAAGGGA
ATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTAATGGGAATTGTAAATATGGT
GAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTTTACCTCTTGTTTAGTGGGTT
TTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGATTTAGAAATCCAGTGTTTGGG
GGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCATGTTAAAGGTGACAAACAGC
TGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTAGTATTATTACATTTAGCTTT
TCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGATTTTGAAACTTGAGTGGTTT
GATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATTTTATTCCACTGTCCTCCCTT
AAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAAGGGTTAGGGAATTTTCCTCT
CTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACATTTGGGACCACCTGGTATTC
TGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGTATTGAGTTGTGCTGGCAGTA
GTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGATAAATAAATATTTGATACGCT
TTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCGTATTTTTGTTCTTGGCAGTA
TTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCTTGGCAATTGCTCCTTGCAAT
AAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTACTTTCAACTTGGAGTTCAGA
GCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAAATGACACAATAAAACCCAAT
GTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGACATACTGTCTTTTCCTTACT
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
TATCCGTTCACGCCGATCCATGAAAATGCTTTGGAAATTGACGGATAATATCAAGTACGAGGAC
TGCGAGGACCGTCACGACGGCACCAGCAACGGGACGGCACGGTTGCCCCAGCTGGGCACTGTAG
GTCAATCTCCCTACACGAGCGCCCCGCCGCTGTCCCACACCCCCAATGCCGACTTCCAGCCCCC
ATACTTCCCCCCACCCTACCAGCCTATCTACCCCCAGTCGCAAGATCCTTACTCCCACGTCAAC
GACCCCTACAGCCTGAACCCCCTGCACGCCCAGCCGCAGCCGCAGCACCCAGGCTGGCCCGGCC
AGAGGCAGAGCCAGGAGTCTGGGCTCCTGCACACGCACCGGGGGCTGCCTCACCAGCTGTCGGG
CCTGGATCCTCGCAGGGACTACAGGCGGCACGAGGACCTCCTGCACGGCCCACACGCGCTCAGC
TCAGGACTCGGAGACCTCTCGATCCACTCCTTACCTCACGCCATCGAGGAGGTCCCGCATGTAG
AAGACCCGGGTATTAACATCCCAGATCAAACTGTAATTAAGAAAGGCCCCGTGTCCCTGTCCAA
GTCCAACAGCAATGCCGTCTCCGCCATCCCTATTAACAAGGACAACCTCTTCGGCGGCGTGGTG
AACCCCAACGAAGTCTTCTGTTCAGTTCCGGGTCGCCTCTCGCTCCTCAGCTCCACCTCGAAGT
ACAAGGTCACGGTGGCGGAAGTGCAGCGGCGGCTCTCACCACCCGAGTGTCTCAACGCGTCGCT
GCTGGGCGGAGTGCTCCGGAGGGCGAAGTCTAAAAATGGAGGAAGATCTTTAAGAGAAAAACTG
GACAAAATAGGATTAAATCTGCCTGCAGGGAGACGTAAAGCTGCCAACGTTACCCTGCTCACAT
CACTAGTAGAGGGAGAAGCTGTCCACCTAGCCAGGGACTTTGGGTACGTGTGCGAAACCGAATT
TCCTGCCAAAGCAGTAGCTGAATTTCTCAACCGACAACATTCCGATCCCAATGAGCAAGTGACA
AGAAAAAACATGCTCCTGGCTACAAAACAGATATGCAAAGAGTTCACCGACCTGCTGGCTCAGG
ACCGATCTCCCCTGGGGAACTCACGGCCCAACCCCATCCTGGAGCCCGGCATCCAGAGCTGCTT
GACCCACTTCAACCTCATCTCCCACGGCTTCGGCAGCCCCGCGGTGTGTGCCGCGGTCACGGCC
CTGCAGAACTATCTCACCGAGGCCCTCAAGGCCATGGACAAAATGTACCTCAGCAACAACCCCA
ACAGCCACACGGACAACAACGCCAAAAGCAGTGACAAAGAGGAGAAGCACAGAAAGTGAGGCTC
TCCTCCCGCCCCGCCCCTCCCACGCCTCACCAGCCCCCCGCGCGCCCACCCTCCGGCGGGTGAC
AGCTCCGGGATCAGCAACCCTTCCTGCTGCTGCTACTGCTGCTGCTGCTGCCGCCGCCGCCGCC
GCCGCTGCCCTTGGGTCCCCCCGAGTCTCCGGGACTGCCCTCTCGACTGTCAGTGGGGCAGCCT
CTCCGACTCTGCACCCGCCTCGACCTCCCCACCCGCTCCCACACCCCTGTGCCCTCATGTGGAG
CCTAAGAGAACAGAACAGGCCGTGAAGCCAGCAGAGAAAAGTTCTGCCAAGTTTGTGAACCCTT
TTTTTTTTAAACAAAACAACAAATCAACAACAGCAACAACAACAACAAAAATTAAAAACTTTTT
TCTAAAAAAAAAGTGAAAATAAAAAAAATTATATGCGCTTCATGGGACTGAGTCACCACCTTCC
CTTACATACTTCAGTTCAGATTGTAGCCATACTTAAAAAAAAAAAAAAAGCCAAAAGATGATGA
CAACATTTTTATCAGTATTGTGAATAAACTTGAACACAAATACACGAAGTTCCATGTCATGTCT
TCAGTTGTAGAAGTTTTTCCTCTTTAAGGTAAAGCGACCAACTTGAACTTTCTCTGGCAACACG
ATTCGCAGTTATATAAGGGAATCAGTGTTCACGTCTCTGTATATATTTATTTATGTGTAATTTA
ATGGGAATTGTAAATATGGTGAGTCTGTTTTAAGCCTTTTTTTTTTTATTTATCTGATCTTGTT
TACCTCTTGTTTAGTGGGTTTTGAATCTTCCCTATTAGTTCTTCATGTGGTTCATGGTACTGAT
TTAGAAATCCAGTGTTTGGGGGATTTTTTTCTCTGGGATTCATGAATTTAGCCCTGTTGTAGCA
TGTTAAAGGTGACAAACAGCTGGACAAATTTTTAAAAAGTAAAATAAAATTTTATCTATAATTA
GTATTATTACATTTAGCTTTTCATTGAACCGAAAGAAAAAAAGTGATATTGGACCCTGGAAAGA
TTTTGAAACTTGAGTGGTTTGATAACCCTTCTATGTATTGTAGGGAGAAAAAAAAAAGTTTATT
TTATTCCACTGTCCTCCCTTAAAAGCATCATTTGAGCAATAAATGAATATTGTCTTTAAACCAA
GGGTTAGGGAATTTTCCTCTCTCTCTCTCTCTCCTCTCTCTTTCTGTTCAAAGAACTTCAAACA
TTTGGGACCACCTGGTATTCTGTATTTTCACTGGCCATATTGGAAGCAGTTCTAGTTGCATTGT
ATTGAGTTGTGCTGGCAGTAGTTTCCATGCCTGTCAATGTATCATAGTCCTTTGTTGCCCAGAT
AAATAAATATTTGATACGCTTTATGTCGATTTTTTTTTATTCAGTGGCTGTCTTTACCCAGGCG
TATTTTTGTTCTTGGCAGTATTTTTTATTCAGTATGGTTACAGTAATTGAGTTTAACTCTCCCT
TGGCAATTGCTCCTTGCAATAAGCAGCTGAACCCATTGTTTCCCTCAAGTATAATAAAAACTTA
CTTTCAACTTGGAGTTCAGAGCAGGGTATCATTTAGATATTCCACTGTGTCTGTATTCAGACAA
ATGACACAATAAAACCCAATGTATTCTTTTGGATAAAAGATTGTTTGTACTGCTAAAGGAATGA
CATACTGTCTTTTCCTTACTAGAAACATTAATTTTATTATTAAAAATAAAGTTTTATTTTATTT
ATGTTGA

hide sequence

Protein Sequences


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
	ENSP00000368933.5
	ENSP00000417495.1
	ENSP00000417735.1
	ENSP00000418391.1
	ENSP00000418541.2
	ENSP00000419696.1
	ENSP00000419823.3
	ENSP00000419961.3
	ENSP00000420568.1
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 MSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQ SQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHED LLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPIN KDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKN GGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQ HSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGS 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 DPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLL HGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKD NLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGG RSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHS DPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPA VCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK 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

Ensembl Acc Id:

ENSP00000418541 ⟸ ENST00000482890

Ensembl Acc Id:

ENSP00000368933 ⟸ ENST00000379613

Ensembl Acc Id:

ENSP00000368928 ⟸ ENST00000379608

Ensembl Acc Id:

ENSP00000419961 ⟸ ENST00000498450

Ensembl Acc Id:

ENSP00000419823 ⟸ ENST00000488193

Ensembl Acc Id:

ENSP00000419696 ⟸ ENST00000475264

Ensembl Acc Id:

ENSP00000420568 ⟸ ENST00000489805

Ensembl Acc Id:

ENSP00000417735 ⟸ ENST00000461628

Ensembl Acc Id:

ENSP00000316516 ⟸ ENST00000319516

Protein Domains

Transcription factor AP-2 C-terminal

Protein Structures

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

Promoters

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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11742	AgrOrtholog
COSMIC	TFAP2A	COSMIC
Ensembl Genes	ENSG00000137203	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000319516	ENTREZGENE
	ENST00000319516.8	UniProtKB/Swiss-Prot
	ENST00000379608	ENTREZGENE
	ENST00000379608.9	UniProtKB/Swiss-Prot
	ENST00000379613	ENTREZGENE
	ENST00000379613.10	UniProtKB/TrEMBL
	ENST00000461628.5	UniProtKB/TrEMBL
	ENST00000465858.1	UniProtKB/TrEMBL
	ENST00000466073.5	UniProtKB/TrEMBL
	ENST00000475264.5	UniProtKB/TrEMBL
	ENST00000482890.6	UniProtKB/TrEMBL
	ENST00000488193.7	UniProtKB/TrEMBL
	ENST00000489805.5	UniProtKB/TrEMBL
	ENST00000498450.3	UniProtKB/TrEMBL
GTEx	ENSG00000137203	GTEx
HGNC ID	HGNC:11742	ENTREZGENE
Human Proteome Map	TFAP2A	Human Proteome Map
InterPro	TF_AP2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TF_AP2_alpha_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TF_AP2_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7020	UniProtKB/Swiss-Prot
NCBI Gene	7020	ENTREZGENE
OMIM	107580	OMIM
PANTHER	PTHR10812	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRANSCRIPTION FACTOR AP-2, ISOFORM D	UniProtKB/TrEMBL
	TRANSCRIPTION FACTOR AP-2-ALPHA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TF_AP-2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36459	PharmGKB
PRINTS	AP2ATNSCPFCT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AP2TNSCPFCT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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 - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar