THAP11 (THAP domain containing 11)

Gene: THAP11 (THAP domain containing 11) Homo sapiens

Analyze

Symbol:

THAP11

Name:

THAP domain containing 11

RGD ID:

1321069

HGNC Page

HGNC:23194

Description:

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CTG-B43a; CTG-B45d; HRIHFB2206; RONIN; THAP domain-containing protein 11

RGD Orthologs

Alliance Genes

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):	Thap11 (THAP domain containing 11)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Thap11 (THAP domain containing 11)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Thap11 (THAP domain containing 11)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	THAP11 (THAP domain containing 11)	NCBI	Ortholog
Canis lupus familiaris (dog):	THAP11 (THAP domain containing 11)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Thap11 (THAP domain containing 11)	NCBI	Ortholog
Sus scrofa (pig):	THAP11 (THAP domain containing 11)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	THAP11 (THAP domain containing 11)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Thap11 (THAP domain containing 11)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Prss58 (serine protease 58)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Thap11 (THAP domain containing 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Thap11 (THAP domain containing 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	thap11 (THAP domain containing 11)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	thap11	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	thap11.L	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	16	67,842,320 - 67,844,195 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	67,842,320 - 67,844,195 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	67,876,223 - 67,878,098 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	66,433,714 - 66,435,599 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	66,433,713 - 66,435,598	NCBI
Celera	16	52,384,625 - 52,386,510 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,749,224 - 53,751,109 (+)	NCBI		HuRef
CHM1_1	16	69,284,395 - 69,286,280 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	73,638,094 - 73,639,969 (+)	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

autosomal dominant dyskeratosis congenita 6 (IAGP)

genetic disease (IAGP)

inherited metabolic disorder (IAGP)

methylmalonic acidemia and homocysteinemia cblX type (IAGP)

methylmalonic aciduria and homocystinuria type cblC (ISS)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

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

4,4'-diaminodiphenylmethane (ISO)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

C60 fullerene (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cyclosporin A (EXP)

decabromodiphenyl ether (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

diuron (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

ethanol (EXP)

fenthion (ISO)

flusilazole (ISO)

folic acid (ISO)

gentamycin (ISO)

glafenine (ISO)

glycidyl methacrylate (EXP)

hexaconazole (ISO)

indometacin (EXP)

leflunomide (EXP)

methotrexate (EXP)

paracetamol (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

selenium atom (EXP)

silicon dioxide (ISO)

Soman (ISO)

sunitinib (EXP)

thapsigargin (EXP)

triadimefon (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell population proliferation (IEA,ISO)

electron transport chain (IEA,ISO)

negative regulation of neuron apoptotic process (IEA,ISO)

negative regulation of transcription by RNA polymerase II (IDA,IEA,ISO)

neuron differentiation (IEA,ISO)

positive regulation of transcription by RNA polymerase II (IEA)

regulation of mitochondrial transcription (IEA,ISO)

regulation of transcription by RNA polymerase II (IBA,IEA)

Cellular Component

chromatin (ISA)

cytoplasm (IEA)

cytosol (IDA)

nucleoplasm (IBA,IDA,IEA)

nucleus (IEA)

TORC1 complex (IEA)

Molecular Function

DNA binding (IDA,IEA)

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

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

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

metal ion binding (IEA)

protein binding (IPI)

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

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

zinc ion binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Immunodeficiency (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8325628	PMID:9853615	PMID:12477932	PMID:12575992	PMID:15489334	PMID:18029348	PMID:18330356	PMID:18585351	PMID:18976975	PMID:19008924	PMID:19224332	PMID:19274049
PMID:20301503	PMID:20360068	PMID:21400515	PMID:21873635	PMID:21988832	PMID:22371484	PMID:22673507	PMID:22898364	PMID:22990118	PMID:23306615	PMID:23539139	PMID:24637716
PMID:24740910	PMID:25056061	PMID:25416956	PMID:25437553	PMID:26186194	PMID:26496610	PMID:26975212	PMID:27173435	PMID:27576892	PMID:28449119	PMID:28514442	PMID:29150431
PMID:29269392	PMID:29507755	PMID:30463901	PMID:31041561	PMID:31905202	PMID:31969497	PMID:31980649	PMID:32296183	PMID:32807901	PMID:32908912	PMID:32994395	PMID:33658012
PMID:33961781	PMID:35140242	PMID:35156780	PMID:35241646	PMID:35439318	PMID:35748872	PMID:35906200	PMID:35944360	PMID:36244648	PMID:36543142	PMID:36688959	PMID:37148549
PMID:38113319	PMID:38113892

Genomics

Comparative Map Data

THAP11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	67,842,320 - 67,844,195 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	67,842,320 - 67,844,195 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	67,876,223 - 67,878,098 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	66,433,714 - 66,435,599 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	66,433,713 - 66,435,598	NCBI
Celera	16	52,384,625 - 52,386,510 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,749,224 - 53,751,109 (+)	NCBI		HuRef
CHM1_1	16	69,284,395 - 69,286,280 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	73,638,094 - 73,639,969 (+)	NCBI		T2T-CHM13v2.0

Thap11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	106,581,735 - 106,583,582 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	106,581,764 - 106,583,582 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	105,855,103 - 105,856,950 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	105,855,132 - 105,856,950 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	108,379,003 - 108,380,850 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	108,744,272 - 108,746,079 (+)	NCBI		MGSCv36	mm8
Celera	8	110,082,856 - 110,084,703 (+)	NCBI		Celera
Cytogenetic Map	8	D3	NCBI
cM Map	8	53.05	NCBI

Thap11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	50,656,839 - 50,658,656 (+)	NCBI		GRCr8
mRatBN7.2	19	33,746,977 - 33,748,794 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	33,746,854 - 33,749,540 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	40,562,517 - 40,564,334 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	41,215,838 - 41,217,655 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	43,514,172 - 43,515,995 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	37,825,576 - 37,827,393 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	37,825,576 - 37,827,393 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	48,692,347 - 48,694,164 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	35,692,222 - 35,694,039 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	35,697,320 - 35,698,247 (+)	NCBI
Celera	19	33,174,537 - 33,176,354 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Thap11
(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_004955484	8,857,684 - 8,858,592 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	8,857,015 - 8,859,091 (-)	NCBI	ChiLan1.0	ChiLan1.0

THAP11
(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	18	77,369,036 - 77,371,151 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	83,279,512 - 83,282,590 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	48,182,825 - 48,185,866 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	67,571,212 - 67,572,894 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	67,571,277 - 67,572,206 (+)	Ensembl	panpan1.1		panPan2

THAP11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	81,635,251 - 81,637,379 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	81,635,970 - 81,636,902 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	81,624,951 - 81,626,685 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	82,070,360 - 82,072,094 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	5	81,896,785 - 81,898,519 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	81,578,616 - 81,580,352 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	82,220,857 - 82,222,591 (-)	NCBI		UU_Cfam_GSD_1.0

Thap11
(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_024409349	41,376,820 - 41,378,866 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	18,210,732 - 18,211,634 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	18,209,683 - 18,212,294 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

THAP11
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	28,465,208 - 28,467,074 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	28,465,458 - 28,466,387 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	25,666,417 - 25,667,346 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

THAP11
(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	5	59,595,411 - 59,598,401 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	59,596,106 - 59,597,047 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	22,321,352 - 22,323,467 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Thap11
(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_004624746	18,511,684 - 18,530,149 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	18,527,396 - 18,530,145 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in THAP11
50 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	copy number gain	See cases [RCV000052405]	Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2	pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	copy number gain	See cases [RCV000052408]	Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|See cases [RCV000053334]	Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	copy number loss	See cases [RCV000053335]	Chr16:64311275..68062011 [GRCh38] Chr16:64345179..68095914 [GRCh37] Chr16:62902680..66653415 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	copy number loss	See cases [RCV000053336]	Chr16:66694180..67865445 [GRCh38] Chr16:66728083..67899348 [GRCh37] Chr16:65285584..66456849 [NCBI36] Chr16:16q22.1	pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	copy number gain	See cases [RCV000143752]	Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1	pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207067]	Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2	likely pathogenic\|uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	copy number loss	See cases [RCV000449234]	Chr16:67654566..68404073 [GRCh37] Chr16:16q22.1	likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)	single nucleotide variant	Disorders of Intracellular Cobalamin Metabolism [RCV002522728]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000498990]	Chr16:67842794 [GRCh38] Chr16:67876697 [GRCh37] Chr16:16q22.1	likely pathogenic\|not provided
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	copy number gain	not provided [RCV000683820]	Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q22.1(chr16:67132790-68166320)	copy number loss	not provided [RCV000767617]	Chr16:67132790..68166320 [GRCh37] Chr16:16q22.1	pathogenic
NM_020457.3(THAP11):c.-105G>A	single nucleotide variant	not provided [RCV001620720]	Chr16:67842450 [GRCh38] Chr16:67876353 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.367CAG[9] (p.Gln132del)	microsatellite	THAP11-related condition [RCV003978183]\|not provided [RCV000948981]	Chr16:67842921..67842923 [GRCh38] Chr16:67876824..67876826 [GRCh37] Chr16:16q22.1	benign
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	copy number loss	not provided [RCV001006797]	Chr16:65669673..70180183 [GRCh37] Chr16:16q21-22.1	pathogenic
NM_025082.4(CENPT):c.-492+5283C>T	single nucleotide variant	not provided [RCV001674276]	Chr16:67842118 [GRCh38] Chr16:67876021 [GRCh37] Chr16:16q22.1	benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1	copy number loss	not provided [RCV001259860]	Chr16:67765964..68246270 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.478C>T (p.Leu160Phe)	single nucleotide variant	Inborn genetic diseases [RCV003197148]	Chr16:67843032 [GRCh38] Chr16:67876935 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.694G>A (p.Val232Ile)	single nucleotide variant	not provided [RCV001988330]	Chr16:67843248 [GRCh38] Chr16:67877151 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.404C>T (p.Pro135Leu)	single nucleotide variant	not provided [RCV001890339]	Chr16:67842958 [GRCh38] Chr16:67876861 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.257A>G (p.Asn86Ser)	single nucleotide variant	not provided [RCV001941371]	Chr16:67842811 [GRCh38] Chr16:67876714 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.219G>A (p.Thr73=)	single nucleotide variant	not provided [RCV001941985]	Chr16:67842773 [GRCh38] Chr16:67876676 [GRCh37] Chr16:16q22.1	likely benign
NC_000016.9:g.(?_66545871)_(72146396_?)dup	duplication	Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]\|Immunodeficiency [RCV001900385]\|not provided [RCV001900386]	Chr16:66545871..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NM_020457.3(THAP11):c.366_392del (p.Gln124_Gln132del)	deletion	not provided [RCV002046955]	Chr16:67842903..67842929 [GRCh38] Chr16:67876806..67876832 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.523C>G (p.Pro175Ala)	single nucleotide variant	not provided [RCV002010345]	Chr16:67843077 [GRCh38] Chr16:67876980 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321ACAGCAGCAGCAGCAGCAACAGCAGCA[1] (p.Gln124_Gln132del)	microsatellite	not provided [RCV001916743]	Chr16:67842867..67842893 [GRCh38] Chr16:67876770..67876796 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.237C>T (p.Ile79=)	single nucleotide variant	not provided [RCV002148742]	Chr16:67842791 [GRCh38] Chr16:67876694 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_386del (p.Gln126_Gln132del)	deletion	not provided [RCV002187232]	Chr16:67842903..67842923 [GRCh38] Chr16:67876806..67876826 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.339_362del (p.Gln125_Gln132del)	deletion	not provided [RCV002129358]	Chr16:67842879..67842902 [GRCh38] Chr16:67876782..67876805 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_389del (p.Gln125_Gln132del)	deletion	THAP11-related condition [RCV003933381]\|not provided [RCV002111213]	Chr16:67842903..67842926 [GRCh38] Chr16:67876806..67876829 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_020457.3(THAP11):c.367CAG[6] (p.Gln129_Gln132del)	microsatellite	THAP11-related condition [RCV003958635]\|not provided [RCV002088517]	Chr16:67842921..67842932 [GRCh38] Chr16:67876824..67876835 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.392_393insACAGCAGCAGCA (p.Gln129_Gln132dup)	microsatellite	not provided [RCV002088826]	Chr16:67842935..67842936 [GRCh38] Chr16:67876838..67876839 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[12] (p.Gln131_Gln132dup)	microsatellite	THAP11-related condition [RCV003916318]\|not provided [RCV002148549]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_020457.3(THAP11):c.312GCAGCAGCAACAGCAGCA[3] (p.Gln127_Gln132dup)	microsatellite	not provided [RCV002135329]	Chr16:67842862..67842863 [GRCh38] Chr16:67876765..67876766 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[11] (p.Gln132dup)	microsatellite	THAP11-related condition [RCV003923726]\|not provided [RCV002106236]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_020457.3(THAP11):c.135C>T (p.Val45=)	single nucleotide variant	not provided [RCV002076542]	Chr16:67842689 [GRCh38] Chr16:67876592 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCAGCA (p.Gln126_Gln132dup)	microsatellite	not provided [RCV002113000]	Chr16:67842926..67842927 [GRCh38] Chr16:67876829..67876830 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[8] (p.Gln131_Gln132del)	microsatellite	not provided [RCV002077562]	Chr16:67842921..67842926 [GRCh38] Chr16:67876824..67876829 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.477C>T (p.Thr159=)	single nucleotide variant	not provided [RCV002115830]	Chr16:67843031 [GRCh38] Chr16:67876934 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.369G>A (p.Gln123=)	single nucleotide variant	not provided [RCV002152240]	Chr16:67842923 [GRCh38] Chr16:67876826 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[4] (p.Gln127_Gln132del)	microsatellite	not provided [RCV002147941]	Chr16:67842921..67842938 [GRCh38] Chr16:67876824..67876841 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_371dup (p.Gln131_Gln132dup)	duplication	not provided [RCV002209898]	Chr16:67842914..67842915 [GRCh38] Chr16:67876817..67876818 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.348A>G (p.Gln116=)	single nucleotide variant	THAP11-related condition [RCV003916329]\|not provided [RCV002151912]	Chr16:67842902 [GRCh38] Chr16:67876805 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.9C>G (p.Gly3=)	single nucleotide variant	THAP11-related condition [RCV003923734]\|not provided [RCV002114286]	Chr16:67842563 [GRCh38] Chr16:67876466 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.339ACAGCAGCA[1] (p.Gln130_Gln132del)	microsatellite	THAP11-related condition [RCV003923497]\|not provided [RCV002197067]	Chr16:67842885..67842893 [GRCh38] Chr16:67876788..67876796 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_020457.3(THAP11):c.321A>G (p.Gln107=)	single nucleotide variant	THAP11-related condition [RCV003913795]\|not provided [RCV002108971]	Chr16:67842875 [GRCh38] Chr16:67876778 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.573A>G (p.Thr191=)	single nucleotide variant	not provided [RCV002121462]	Chr16:67843127 [GRCh38] Chr16:67877030 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCAGCAGCA (p.Gln125_Gln132dup)	microsatellite	not provided [RCV002120814]	Chr16:67842923..67842924 [GRCh38] Chr16:67876826..67876827 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[7] (p.Gln130_Gln132del)	microsatellite	not provided [RCV002103288]	Chr16:67842921..67842929 [GRCh38] Chr16:67876824..67876832 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.441G>A (p.Pro147=)	single nucleotide variant	not provided [RCV002160143]	Chr16:67842995 [GRCh38] Chr16:67876898 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366A>G (p.Gln122=)	single nucleotide variant	not provided [RCV002161035]	Chr16:67842920 [GRCh38] Chr16:67876823 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_392dup (p.Gln124_Gln132dup)	duplication	THAP11-related condition [RCV003923631]\|not provided [RCV002122946]	Chr16:67842902..67842903 [GRCh38] Chr16:67876805..67876806 [GRCh37] Chr16:16q22.1	benign\|likely benign
NM_020457.3(THAP11):c.426T>C (p.Thr142=)	single nucleotide variant	not provided [RCV002163165]	Chr16:67842980 [GRCh38] Chr16:67876883 [GRCh37] Chr16:16q22.1	likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NM_020457.3(THAP11):c.367CAG[13] (p.Gln130_Gln132dup)	microsatellite	not provided [RCV002083958]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.18C>T (p.Cys6=)	single nucleotide variant	THAP11-related condition [RCV003911215]\|not provided [RCV002182456]	Chr16:67842572 [GRCh38] Chr16:67876475 [GRCh37] Chr16:16q22.1	benign\|likely benign
NC_000016.9:g.(?_65821800)_(72146396_?)del	deletion	Dyskeratosis congenita, autosomal dominant 6 [RCV003122496]	Chr16:65821800..72146396 [GRCh37] Chr16:16q21-22.2	uncertain significance
NM_020457.3(THAP11):c.509C>A (p.Pro170Gln)	single nucleotide variant	not provided [RCV002261531]	Chr16:67843063 [GRCh38] Chr16:67876966 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.120G>A (p.Val40=)	single nucleotide variant	not provided [RCV002967762]	Chr16:67842674 [GRCh38] Chr16:67876577 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.351GCA[3] (p.Gln131_Gln132del)	microsatellite	not provided [RCV002994329]	Chr16:67842903..67842908 [GRCh38] Chr16:67876806..67876811 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.360G>A (p.Gln120=)	single nucleotide variant	not provided [RCV002904026]	Chr16:67842914 [GRCh38] Chr16:67876817 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.298G>T (p.Ala100Ser)	single nucleotide variant	Inborn genetic diseases [RCV002979968]\|not provided [RCV002995981]	Chr16:67842852 [GRCh38] Chr16:67876755 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.921C>T (p.Val307=)	single nucleotide variant	not provided [RCV002902931]	Chr16:67843475 [GRCh38] Chr16:67877378 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.351GCA[7] (p.Gln132_Ser133insGlnGln)	microsatellite	THAP11-related condition [RCV003916673]\|not provided [RCV002975158]	Chr16:67842902..67842903 [GRCh38] Chr16:67876805..67876806 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.620C>G (p.Ala207Gly)	single nucleotide variant	Inborn genetic diseases [RCV002684323]	Chr16:67843174 [GRCh38] Chr16:67877077 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.38A>G (p.Asn13Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357982]\|not provided [RCV002691008]	Chr16:67842592 [GRCh38] Chr16:67876495 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.348ACAGCAGCAGCAGCAGCA[1] (p.Gln127_Gln132del)	microsatellite	THAP11-related condition [RCV003943567]\|not provided [RCV002914034]	Chr16:67842894..67842911 [GRCh38] Chr16:67876797..67876814 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.339_359dup (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGln)	duplication	not provided [RCV002572005]	Chr16:67842881..67842882 [GRCh38] Chr16:67876784..67876785 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.348A>C (p.Gln116His)	single nucleotide variant	not provided [RCV002593148]	Chr16:67842902 [GRCh38] Chr16:67876805 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.367CAG[19] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV002999306]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_395del (p.Gln123_Gln132del)	deletion	not provided [RCV003079504]	Chr16:67842903..67842932 [GRCh38] Chr16:67876806..67876835 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.394_395delinsTC (p.Gln132Ser)	indel	not provided [RCV003080710]	Chr16:67842948..67842949 [GRCh38] Chr16:67876851..67876852 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.240C>T (p.Phe80=)	single nucleotide variant	not provided [RCV002913909]	Chr16:67842794 [GRCh38] Chr16:67876697 [GRCh37] Chr16:16q22.1	benign
NM_020457.3(THAP11):c.348_350del (p.Gln132del)	deletion	not provided [RCV002926759]	Chr16:67842900..67842902 [GRCh38] Chr16:67876803..67876805 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.324GCA[1] (p.Gln129_Gln132del)	microsatellite	not provided [RCV002699983]	Chr16:67842876..67842887 [GRCh38] Chr16:67876779..67876790 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[18] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV002766190]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.357G>A (p.Gln119=)	single nucleotide variant	not provided [RCV002957935]	Chr16:67842911 [GRCh38] Chr16:67876814 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.333_334insAAGCAACAG (p.Gln111_Gln112insLysGlnGln)	insertion	not provided [RCV002595462]	Chr16:67842884..67842885 [GRCh38] Chr16:67876787..67876788 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.448G>C (p.Val150Leu)	single nucleotide variant	not provided [RCV002597020]	Chr16:67843002 [GRCh38] Chr16:67876905 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_335dup (p.Gln132_Ser133insGlnGlnGlnGlnGln)	duplication	not provided [RCV003042350]	Chr16:67842862..67842863 [GRCh38] Chr16:67876765..67876766 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.415A>G (p.Thr139Ala)	single nucleotide variant	not provided [RCV002786399]	Chr16:67842969 [GRCh38] Chr16:67876872 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.347_348insGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	insertion	not provided [RCV003042977]	Chr16:67842875..67842876 [GRCh38] Chr16:67876778..67876779 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_329dup (p.Gln132_Ser133insGlnGlnGln)	duplication	not provided [RCV002958648]	Chr16:67842866..67842867 [GRCh38] Chr16:67876769..67876770 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_374del (p.Gln130_Gln132del)	deletion	not provided [RCV002596060]	Chr16:67842912..67842920 [GRCh38] Chr16:67876815..67876823 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.395A>C (p.Gln132Pro)	single nucleotide variant	Inborn genetic diseases [RCV002984423]	Chr16:67842949 [GRCh38] Chr16:67876852 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.348_377del (p.Gln123_Gln132del)	deletion	not provided [RCV002919027]	Chr16:67842894..67842923 [GRCh38] Chr16:67876797..67876826 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_329del (p.Gln130_Gln132del)	deletion	not provided [RCV002644187]	Chr16:67842867..67842875 [GRCh38] Chr16:67876770..67876778 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.383_384insACAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGln)	microsatellite	not provided [RCV002957936]	Chr16:67842923..67842924 [GRCh38] Chr16:67876826..67876827 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.502C>G (p.Gln168Glu)	single nucleotide variant	Inborn genetic diseases [RCV002915918]\|not provided [RCV003777942]	Chr16:67843056 [GRCh38] Chr16:67876959 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.348ACAGCAGCAGCAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV002938931]	Chr16:67842893..67842894 [GRCh38] Chr16:67876796..67876797 [GRCh37] Chr16:16q22.1	likely benign\|uncertain significance
NM_020457.3(THAP11):c.321ACAGCAGCAGCAGCAGCAACAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003087049]	Chr16:67842866..67842867 [GRCh38] Chr16:67876769..67876770 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.359_360insACA (p.Gln132_Ser133insGln)	insertion	not provided [RCV002959214]	Chr16:67842911..67842912 [GRCh38] Chr16:67876814..67876815 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.398C>T (p.Ser133Phe)	single nucleotide variant	not provided [RCV003046463]	Chr16:67842952 [GRCh38] Chr16:67876855 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_326dup (p.Gln132_Ser133insGlnGln)	duplication	not provided [RCV003086256]	Chr16:67842869..67842870 [GRCh38] Chr16:67876772..67876773 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_380del (p.Gln128_Gln132del)	deletion	not provided [RCV003089566]	Chr16:67842906..67842920 [GRCh38] Chr16:67876809..67876823 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.374_375insACAGCAGCAGCAGCAGCAACAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGln)	insertion	not provided [RCV003088582]	Chr16:67842923..67842924 [GRCh38] Chr16:67876826..67876827 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.347_348insGCAGCAGCAGCAGCAGCAACAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003090536]	Chr16:67842875..67842876 [GRCh38] Chr16:67876778..67876779 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.722G>A (p.Gly241Asp)	single nucleotide variant	not provided [RCV002671803]	Chr16:67843276 [GRCh38] Chr16:67877179 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.339ACAGCAGCA[3] (p.Gln132_Ser133insGlnGlnGln)	microsatellite	not provided [RCV002647266]	Chr16:67842884..67842885 [GRCh38] Chr16:67876787..67876788 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.397T>C (p.Ser133Pro)	single nucleotide variant	not provided [RCV002598544]	Chr16:67842951 [GRCh38] Chr16:67876854 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.395_397del (p.Gln132_Ser133delinsPro)	deletion	not provided [RCV002658292]	Chr16:67842949..67842951 [GRCh38] Chr16:67876852..67876854 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.356_357insACAGCA (p.Gln132_Ser133insGlnGln)	insertion	not provided [RCV003072184]	Chr16:67842905..67842906 [GRCh38] Chr16:67876808..67876809 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.446T>C (p.Leu149Pro)	single nucleotide variant	not provided [RCV003569772]	Chr16:67843000 [GRCh38] Chr16:67876903 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	copy number gain	not provided [RCV003485117]	Chr16:67498380..68754276 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.381G>A (p.Gln127=)	single nucleotide variant	not provided [RCV003426747]	Chr16:67842935 [GRCh38] Chr16:67876838 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.574G>A (p.Val192Met)	single nucleotide variant	not provided [RCV003571946]	Chr16:67843128 [GRCh38] Chr16:67877031 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.383_384insACAGCAGCA (p.Gln132_Ser133insGlnGlnGln)	microsatellite	not provided [RCV003715492]	Chr16:67842929..67842930 [GRCh38] Chr16:67876832..67876833 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.347_348insGCAGCAGCAACAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003546294]	Chr16:67842893..67842894 [GRCh38] Chr16:67876796..67876797 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.351GCA[6] (p.Gln132_Ser133insGln)	microsatellite	not provided [RCV003545735]	Chr16:67842902..67842903 [GRCh38] Chr16:67876805..67876806 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.339A>G (p.Gln113=)	single nucleotide variant	not provided [RCV003545895]	Chr16:67842893 [GRCh38] Chr16:67876796 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.309GCA[1] (p.Gln130_Gln132del)	microsatellite	not provided [RCV003550033]	Chr16:67842863..67842871 [GRCh38] Chr16:67876766..67876774 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.690G>C (p.Val230=)	single nucleotide variant	not provided [RCV003725985]	Chr16:67843244 [GRCh38] Chr16:67877147 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.348_353del (p.Gln131_Gln132del)	deletion	not provided [RCV003697610]	Chr16:67842897..67842902 [GRCh38] Chr16:67876800..67876805 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.225C>G (p.Arg75=)	single nucleotide variant	not provided [RCV003726350]	Chr16:67842779 [GRCh38] Chr16:67876682 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.367CAG[5] (p.Gln128_Gln132del)	microsatellite	THAP11-related condition [RCV003946656]\|not provided [RCV003548314]	Chr16:67842921..67842935 [GRCh38] Chr16:67876824..67876838 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.375G>A (p.Gln125=)	single nucleotide variant	not provided [RCV003816823]	Chr16:67842929 [GRCh38] Chr16:67876832 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.312GCAGCAGCAACAGCAGCA[1] (p.Gln127_Gln132del)	microsatellite	not provided [RCV003700279]	Chr16:67842863..67842880 [GRCh38] Chr16:67876766..67876783 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.366_368del (p.Gln132del)	deletion	not provided [RCV003700340]	Chr16:67842918..67842920 [GRCh38] Chr16:67876821..67876823 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.392_393insACAGCAGCA (p.Gln132_Ser133insGlnGlnGln)	microsatellite	not provided [RCV003847553]	Chr16:67842938..67842939 [GRCh38] Chr16:67876841..67876842 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.364_396del (p.Gln122_Gln132del)	deletion	not provided [RCV003731816]	Chr16:67842903..67842935 [GRCh38] Chr16:67876806..67876838 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.386_387insACAGCAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003735757]	Chr16:67842923..67842924 [GRCh38] Chr16:67876826..67876827 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.588T>C (p.Phe196=)	single nucleotide variant	not provided [RCV003711555]	Chr16:67843142 [GRCh38] Chr16:67877045 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.464C>G (p.Ala155Gly)	single nucleotide variant	not provided [RCV003676501]	Chr16:67843018 [GRCh38] Chr16:67876921 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_323del (p.Gln132del)	deletion	not provided [RCV003554057]	Chr16:67842873..67842875 [GRCh38] Chr16:67876776..67876778 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.81A>C (p.Pro27=)	single nucleotide variant	not provided [RCV003732985]	Chr16:67842635 [GRCh38] Chr16:67876538 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.351GCA[8] (p.Gln132_Ser133insGlnGlnGln)	microsatellite	not provided [RCV003871121]	Chr16:67842902..67842903 [GRCh38] Chr16:67876805..67876806 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.487A>T (p.Thr163Ser)	single nucleotide variant	not provided [RCV003554359]	Chr16:67843041 [GRCh38] Chr16:67876944 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.392_393insACAGCAGCAGCAGCAGCA (p.Gln132_Ser133insGlnGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003728765]	Chr16:67842929..67842930 [GRCh38] Chr16:67876832..67876833 [GRCh37] Chr16:16q22.1	uncertain significance
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	copy number gain	not specified [RCV003987175]	Chr16:67583728..69977397 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.367CAG[15] (p.Gln132_Ser133insGlnGlnGlnGlnGln)	microsatellite	not provided [RCV003555740]	Chr16:67842920..67842921 [GRCh38] Chr16:67876823..67876824 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.324GCA[6] (p.Gln132_Ser133insGln)	microsatellite	not provided [RCV003564480]	Chr16:67842875..67842876 [GRCh38] Chr16:67876778..67876779 [GRCh37] Chr16:16q22.1	uncertain significance
NM_020457.3(THAP11):c.321_332del (p.Gln129_Gln132del)	deletion	not provided [RCV003567495]	Chr16:67842864..67842875 [GRCh38] Chr16:67876767..67876778 [GRCh37] Chr16:16q22.1	likely benign
NM_020457.3(THAP11):c.374_375insACAGCA (p.Gln132_Ser133insGlnGln)	insertion	not provided [RCV003555048]	Chr16:67842923..67842924 [GRCh38] Chr16:67876826..67876827 [GRCh37] Chr16:16q22.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	558
Count of miRNA genes:	288
Interacting mature miRNAs:	322
Transcripts:	ENST00000303596
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.

Markers in Region

D16S667E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,876,686 - 67,876,893	UniSTS	GRCh37
Build 36	16	66,434,187 - 66,434,394	RGD	NCBI36
Celera	16	52,385,098 - 52,385,305	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,749,697 - 53,749,904	UniSTS

G20704

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,877,798 - 67,878,042	UniSTS	GRCh37
Build 36	16	66,435,299 - 66,435,543	RGD	NCBI36
Celera	16	52,386,210 - 52,386,454	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,750,809 - 53,751,053	UniSTS

A006C32

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,877,798 - 67,878,042	UniSTS	GRCh37
Build 36	16	66,435,299 - 66,435,543	RGD	NCBI36
Celera	16	52,386,210 - 52,386,454	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,750,809 - 53,751,053	UniSTS
GeneMap99-GB4 RH Map	16	408.42	UniSTS
NCBI RH Map	16	508.6	UniSTS

RH78543

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,877,697 - 67,877,847	UniSTS	GRCh37
Build 36	16	66,435,198 - 66,435,348	RGD	NCBI36
Celera	16	52,386,109 - 52,386,259	RGD
Cytogenetic Map	16	q22.1	UniSTS
HuRef	16	53,750,708 - 53,750,858	UniSTS
GeneMap99-GB4 RH Map	16	405.66	UniSTS
NCBI RH Map	16	508.6	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2421

2610

1524

441

1742

283

4352

2065

3298

381

1455

1602

172

1201

2787

Low

381

202

183

209

182

132

436

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_020457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB015338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC040162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI261822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ898449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF036502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU869208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L10378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L10379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000303596 ⟹ ENSP00000304689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	67,842,320 - 67,844,195 (+)	Ensembl

RefSeq Acc Id:

NM_020457 ⟹ NP_065190

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,842,320 - 67,844,195 (+)	NCBI
GRCh37	16	67,876,213 - 67,878,098 (+)	RGD
Build 36	16	66,433,714 - 66,435,599 (+)	NCBI Archive
Celera	16	52,384,625 - 52,386,510 (+)	RGD
HuRef	16	53,749,224 - 53,751,109 (+)	RGD
CHM1_1	16	69,284,395 - 69,286,280 (+)	NCBI
T2T-CHM13v2.0	16	73,638,094 - 73,639,969 (+)	NCBI

Sequence:

show sequence

GGGGCCCACTCCCGAGCGCAGGCGGGCAGCCAGGCGGGCGGCGCGGCGCGGGCCGGCAGGAAGC
GTATTCTGGGCACGGGGCGCCGGGCGGGCCGGCTGCGCCGAGCGGCAGTGGTGGGATACCACCC
AAGGCCTCGCGCGGCGCCGCCCGTCGAGGGGCGGGCGGCGGCGTAGCCACTGGGCCGTCGAAGA
GCGCAGGAGGCCGGTGGGCCGGGCCGGGCCGCGCGGCGCAGCCATGCCTGGCTTTACGTGCTGC
GTGCCAGGCTGCTACAACAACTCGCACCGGGACAAGGCGCTGCACTTCTACACGTTTCCAAAGG
ACGCTGAGTTGCGGCGCCTCTGGCTCAAGAACGTGTCGCGTGCCGGCGTCAGTGGGTGCTTCTC
CACCTTCCAGCCCACCACAGGCCACCGTCTCTGCAGCGTTCACTTCCAGGGCGGCCGCAAGACC
TACACGGTACGCGTCCCCACCATCTTCCCGCTGCGCGGCGTCAATGAGCGCAAAGTAGCGCGCA
GACCCGCTGGGGCCGCGGCCGCCCGCCGCAGGCAGCAGCAGCAACAGCAGCAGCAGCAGCAACA
GCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTCCTCACCC
TCTGCCTCCACTGCCCAGACTGCCCAGCTGCAGCCGAACCTGGTATCTGCTTCCGCGGCCGTGC
TTCTCACCCTTCAGGCCACTGTAGACAGCAGTCAGGCTCCGGGATCCGTACAGCCGGCGCCCAT
CACTCCCACTGGAGAAGACGTGAAGCCCATCGATCTCACAGTGCAAGTGGAGTTTGCAGCCGCA
GAGGGCGCAGCCGCTGCGGCCGCCGCGTCGGAGTTACAGGCTGCTACCGCAGGGCTGGAGGCTG
CCGAGTGCCCTATGGGCCCCCAGTTGGTGGTGGTAGGGGAAGAGGGCTTCCCTGATACTGGCTC
CGACCATTCGTACTCCTTGTCGTCAGGCACCACGGAGGAGGAGCTCCTGCGCAAGCTGAATGAG
CAGCGGGACATCCTGGCTCTGATGGAAGTGAAGATGAAAGAGATGAAAGGCAGCATTCGCCACC
TGCGTCTCACTGAGGCCAAGCTGCGCGAAGAACTGCGTGAGAAGGATCGGCTGCTTGCCATGGC
TGTCATCCGCAAGAAGCACGGAATGTGAACTGGTGCCCCGGCAGCCTGCTGGACTCCCAGACCC
CATCCAGCCAGGGGACCGCAGGCCATTGTTGAACTCCTCTATACTCCTGGGCACTGGTTGACAG
TACTGAGGCTTAAGGCAGCTGGACTCTCTTGCTGGTGACCTGGCATCCTCAATTGTTTCCTCCT
GAAGTGGAAGCTGGGGCCTTAGACTCTGCCCTGGTGACACCAGCAATTATGACTTTGTCTACCC
TTCCTCCCCAGTTATTGTTGCAGATTCTGGTTAAGCAGAGGCTTCAGAACCACTGAACTTGAAA
CTTACCCTCTAGGGATGCAGGTGGGATGTCCAGGGACTATAGGTTTGGGAAAACCATACCTTAA
GGTTGGTCAGCAGTCAGACAACTCTAATGTGTGTAGTGATAAGAGATTCAAGTAACATCAGTTC
TCCTCCTTTTCATGCTTTTCCTTCCCAGGTGCAGCCTGTGATTCTGATGGGGACTGGTAAATCT
GTGCCTCTGCCTCCTAGGACTTATTTTCCCAGGAGGCCATTTACAAGGGGATCTGGATGACCTG
CTGATGGAGATCCAGCTTGCCAGGGACTTAGGTTTATCCTGTTTTGTTTGCTACTGGTTACAAA
TTCTATTTTCTGTACAATTAGTCAGACTAAAGTTTTCACTGTGTTTGTTTGGCAAAACAAATTA
AACAAAAAGTAAGGTTTTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_065190	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH12182	(Get FASTA)	NCBI Sequence Viewer
	ABO65088	(Get FASTA)	NCBI Sequence Viewer
	ACG50140	(Get FASTA)	NCBI Sequence Viewer
	BAA34796	(Get FASTA)	NCBI Sequence Viewer
	BAF82056	(Get FASTA)	NCBI Sequence Viewer
	EAW83180	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304689
	ENSP00000304689.1
GenBank Protein	Q96EK4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_065190 ⟸ NM_020457

- UniProtKB:

A8K002 (UniProtKB/Swiss-Prot), A4UCT5 (UniProtKB/Swiss-Prot), O94795 (UniProtKB/Swiss-Prot), Q96EK4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVH
FQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQQQQQQQQQ
QQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTV
QVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEE
LLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM

hide sequence

RefSeq Acc Id:

ENSP00000304689 ⟸ ENST00000303596

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96EK4-F1-model_v2	AlphaFold	Q96EK4	1-314	view protein structure

Promoters

RGD ID:

6793508

Promoter ID:

HG_KWN:24055

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000268879

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	66,433,231 - 66,434,742 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23194	AgrOrtholog
COSMIC	THAP11	COSMIC
Ensembl Genes	ENSG00000168286	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000303596	ENTREZGENE
	ENST00000303596.3	UniProtKB/Swiss-Prot
GTEx	ENSG00000168286	GTEx
HGNC ID	HGNC:23194	ENTREZGENE
Human Proteome Map	THAP11	Human Proteome Map
InterPro	THAP_Znf	UniProtKB/Swiss-Prot
KEGG Report	hsa:57215	UniProtKB/Swiss-Prot
NCBI Gene	57215	ENTREZGENE
OMIM	609119	OMIM
PANTHER	THAP DOMAIN PROTEIN 11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	THAP DOMAIN-CONTAINING PROTEIN 11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	THAP	UniProtKB/Swiss-Prot
PharmGKB	PA134979842	PharmGKB
PROSITE	ZF_THAP	UniProtKB/Swiss-Prot
SMART	DM3	UniProtKB/Swiss-Prot
	THAP	UniProtKB/Swiss-Prot
Superfamily-SCOP	Glucocorticoid receptor-like (DNA-binding domain)	UniProtKB/Swiss-Prot
UniProt	A4UCT5	ENTREZGENE
	A8K002	ENTREZGENE
	B5APZ3_HUMAN	UniProtKB/TrEMBL
	O94795	ENTREZGENE
	Q96EK4	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A4UCT5	UniProtKB/Swiss-Prot
	A8K002	UniProtKB/Swiss-Prot
	O94795	UniProtKB/Swiss-Prot

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 - MGI

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - MGI

Imported Human Phenotype Annotations - ClinVar