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Gene: TRIM50 (tripartite motif containing 50) Homo sapiens

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Symbol:

TRIM50

Name:

tripartite motif containing 50

RGD ID:

735660

HGNC Page

HGNC:19017

Description:

Enables identical protein binding activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within regulation of establishment of protein localization. Located in cytosol.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

E3 ubiquitin ligase; E3 ubiquitin-protein ligase TRIM50; FLJ32804; MGC138357; MGC138359; RING-type E3 ubiquitin transferase TRIM50; TRIM50A; tripartite motif protein 50; tripartite motif-containing 50; tripartite motif-containing 50A; tripartite motif-containing protein 50

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):	Trim50 (tripartite motif-containing 50)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Trim50 (tripartite motif-containing 50)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	TRIM50 (tripartite motif containing 50)	NCBI	Ortholog
Canis lupus familiaris (dog):	TRIM50 (tripartite motif containing 50)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Trim50 (tripartite motif containing 50)	NCBI	Ortholog
Sus scrofa (pig):	TRIM50 (tripartite motif containing 50)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TRIM50 (tripartite motif containing 50)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Trim50 (tripartite motif containing 50)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Cpsf4 (cleavage and polyadenylation specific factor 4)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Trim50 (tripartite motif-containing 50)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Trim50 (tripartite motif-containing 50)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	B0281.8	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	C28G1.5	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	F43C11.7	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.5	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.8	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	ZK1240.3	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Caenorhabditis elegans (roundworm):	C28G1.6	Alliance	DIOPT (Ensembl Compara\|InParanoid)
Xenopus laevis (African clawed frog):	trim50.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	7	73,312,536 - 73,328,082 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	73,312,536 - 73,328,082 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	72,726,532 - 72,742,085 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	72,364,471 - 72,380,021 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	72,171,185 - 72,186,736	NCBI
Celera	7	68,204,827 - 68,220,367 (-)	NCBI		Celera
Cytogenetic Map	7	q11.23	NCBI
HuRef	7	68,608,274 - 68,623,822 (-)	NCBI		HuRef
CHM1_1	7	72,872,558 - 72,888,104 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	72,059,604 - 72,075,157 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:21658581 more ...
TRIM50	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
TRIM50	Human	intestinal volvulus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTESTINAL MALROTATION and FAMILIAL	ClinVar	PMID:25741868
TRIM50	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
TRIM50	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358
TRIM50	Human	schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
TRIM50	Human	Volvulus Of Midgut		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Volvulus of midgut	ClinVar	PMID:25741868
TRIM50	Human	Williams-Beuren syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Williams syndrome	ClinVar
TRIM50	Human	Williams-Beuren syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Williams syndrome	ClinVar	PMID:25741868

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Trim50 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of TRIM50 mRNA	CTD	PMID:32109520
TRIM50	Human	6-propyl-2-thiouracil	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of TRIM50 mRNA	CTD	PMID:24780913
TRIM50	Human	acrylamide	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of TRIM50 mRNA	CTD	PMID:28959563
TRIM50	Human	ammonium chloride	affects expression	ISO	Trim50 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of TRIM50 mRNA	CTD	PMID:16483693
TRIM50	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of TRIM50 mRNA	CTD	PMID:24449571
TRIM50	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of TRIM50 5' UTR	CTD	PMID:27901495
TRIM50	Human	Benzo[ghi]perylene	increases expression	ISO	Trim50 (Mus musculus)	6480464	1 and 12-benzoperylene results in increased expression of TRIM50 mRNA	CTD	PMID:26377693
TRIM50	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of TRIM50 mRNA	CTD	PMID:31163220
TRIM50	Human	bisphenol A	decreases expression	ISO	Trim50 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TRIM50 mRNA	CTD	PMID:25181051
TRIM50	Human	bisphenol A	decreases methylation	ISO	Trim50 (Mus musculus)	6480464	bisphenol A results in decreased methylation of TRIM50 promoter	CTD	PMID:27312807
TRIM50	Human	carmustine	affects response to substance	EXP		6480464	TRIM50 mRNA affects the susceptibility to Carmustine	CTD	PMID:16365179
TRIM50	Human	copper atom	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of TRIM50 mRNA	CTD	PMID:26033743
TRIM50	Human	copper(0)	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of TRIM50 mRNA	CTD	PMID:26033743
TRIM50	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of TRIM50 mRNA	CTD	PMID:25562108
TRIM50	Human	glyphosate	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Glyphosate results in increased expression of TRIM50 mRNA	CTD	PMID:38314887
TRIM50	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of TRIM50 mRNA	CTD	PMID:35811015
TRIM50	Human	lipopolysaccharide	multiple interactions	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine inhibits the reaction [Lipopolysaccharides results in decreased expression of TRIM50 mRNA]	CTD	PMID:35811015
TRIM50	Human	phenformin	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Phenformin results in increased expression of TRIM50 mRNA	CTD	PMID:31324951
TRIM50	Human	propanal	increases expression	EXP		6480464	propionaldehyde results in increased expression of TRIM50 mRNA	CTD	PMID:26079696
TRIM50	Human	resorcinol	decreases expression	EXP		6480464	resorcinol results in decreased expression of TRIM50 mRNA	CTD	PMID:22623647
TRIM50	Human	rotenone	increases expression	ISO	Trim50 (Rattus norvegicus)	6480464	Rotenone results in increased expression of TRIM50 mRNA	CTD	PMID:28374803
TRIM50	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine inhibits the reaction [Lipopolysaccharides results in decreased expression of TRIM50 mRNA]	CTD	PMID:35811015
TRIM50	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of TRIM50 mRNA	CTD	PMID:25895662
TRIM50	Human	temozolomide	affects response to substance	EXP		6480464	TRIM50 mRNA affects the susceptibility to temozolomide	CTD	PMID:16365179
TRIM50	Human	tris(2-butoxyethyl) phosphate	affects expression	EXP		6480464	tris(2-butoxyethyl) phosphate affects the expression of TRIM50 mRNA	CTD	PMID:29024780
TRIM50	Human	valproic acid	affects expression	ISO	Trim50 (Mus musculus)	6480464	Valproic Acid affects the expression of TRIM50 mRNA	CTD	PMID:17292431
TRIM50	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of TRIM50 gene	CTD	PMID:29154799

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	innate immune response	involved_in	IBA	MGI:1338757 more ...	150520179		GO_Central	GO_REF:0000033
TRIM50	Human	regulation of establishment of protein localization	acts_upstream_of_or_within	ISO	Trim50 (Mus musculus)	9068941	PMID:22792322	MGI	PMID:22792322

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	aggresome	located_in	ISO	Trim50 (Mus musculus)	9068941	PMID:22792322	MGI	PMID:22792322
TRIM50	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TRIM50	Human	cytoplasm	is_active_in	IBA	MGI:106657 more ...	150520179		GO_Central	GO_REF:0000033
TRIM50	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TRIM50	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	identical protein binding	enables	IPI	UniProtKB:Q86XT4	150520179	PMID:22829933 and PMID:32296183	IntAct	PMID:22829933 and PMID:32296183
TRIM50	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
TRIM50	Human	protein binding	enables	IPI	UniProtKB:P0DTD1-PRO_0000449631	150520179	PMID:36217029	IntAct	PMID:36217029
TRIM50	Human	protein binding	enables	IPI	UniProtKB:A6H8Z2 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
TRIM50	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
TRIM50	Human	ubiquitin protein ligase activity	enables	IBA	MGI:2137355 more ...	150520179		GO_Central	GO_REF:0000033
TRIM50	Human	zinc ion binding	enables	IEA	InterPro:IPR000315	150520179		InterPro	GO_REF:0000002
TRIM50	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRIM50	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
TRIM50	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:21658581 more ...
TRIM50	Human	Intestinal malrotation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malrotation	ClinVar	PMID:25741868
TRIM50	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358
TRIM50	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:12853948	PMID:14702039	PMID:16344560	PMID:18029348	PMID:18398435	PMID:21143188	PMID:21873635	PMID:22610502	PMID:22792322	PMID:22829933	PMID:24308962
PMID:26196062	PMID:29604308	PMID:29789583	PMID:31176697	PMID:32296183	PMID:33187986	PMID:34568024	PMID:36178239	PMID:36217029	PMID:36543142	PMID:37409971

TRIM50
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	73,312,536 - 73,328,082 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	73,312,536 - 73,328,082 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	72,726,532 - 72,742,085 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	72,364,471 - 72,380,021 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	72,171,185 - 72,186,736	NCBI
Celera	7	68,204,827 - 68,220,367 (-)	NCBI		Celera
Cytogenetic Map	7	q11.23	NCBI
HuRef	7	68,608,274 - 68,623,822 (-)	NCBI		HuRef
CHM1_1	7	72,872,558 - 72,888,104 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	72,059,604 - 72,075,157 (-)	NCBI

Trim50
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	135,380,738 - 135,396,744 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	135,382,149 - 135,396,859 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	135,351,884 - 135,367,890 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	135,353,295 - 135,368,005 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	135,829,166 - 135,843,524 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	135,637,923 - 135,652,281 (+)	NCBI		MGSCv36	mm8
Celera	5	132,364,998 - 132,379,356 (+)	NCBI		Celera
Cytogenetic Map	5	G2	NCBI
cM Map	5	75.15	NCBI

Trim50
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	26,937,349 - 26,954,286 (-)	NCBI		GRCr8
mRatBN7.2	12	21,300,784 - 21,317,668 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	21,300,785 - 21,317,668 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	22,442,919 - 22,457,930 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	23,055,251 - 23,070,262 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	22,121,731 - 22,136,734 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	24,348,426 - 24,365,467 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	24,348,321 - 24,365,324 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	26,345,729 - 26,362,703 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	22,455,550 - 22,470,523 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	22,446,133 - 22,461,108 (-)	NCBI
Celera	12	23,063,653 - 23,078,622 (-)	NCBI		Celera
Cytogenetic Map	12	q12	NCBI

TRIM50
(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	6	91,573,297 - 91,592,291 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	139,837,930 - 139,856,829 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	7	80,465,084 - 80,478,744 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

TRIM50
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	6,868,484 - 6,882,964 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	6,868,117 - 6,882,576 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	8,565,796 - 8,580,130 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	6,689,017 - 6,703,372 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	6,694,541 - 6,703,375 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	6,659,192 - 6,673,528 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	6,621,890 - 6,636,263 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	6,785,231 - 6,799,578 (+)	NCBI		UU_Cfam_GSD_1.0

Trim50
(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_024409344	131,403,362 - 131,412,113 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936543	2,624,450 - 2,638,190 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936543	2,624,441 - 2,638,190 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TRIM50
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	10,647,690 - 10,656,417 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	10,647,690 - 10,655,345 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	10,351,592 - 10,359,671 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TRIM50
(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	28	9,718,668 - 9,734,045 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	28	9,718,669 - 9,733,672 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666070	6,728,682 - 6,744,650 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Trim50
(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_004624740	14,399,068 - 14,409,933 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624740	14,399,773 - 14,410,477 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TRIM50
76 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	copy number loss	See cases [RCV000050709]	Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11	pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	copy number loss	See cases [RCV000050996]	Chr7:72930548..74869255 [GRCh38] Chr7:72401086..74285345 [GRCh37] Chr7:72039022..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]\|See cases [RCV000052318]	Chr7:64560824..79186156 [GRCh38] Chr7:64021202..78815472 [GRCh37] Chr7:63658637..78653408 [NCBI36] Chr7:7q11.21-21.11	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	copy number loss	See cases [RCV000052321]	Chr7:68668307..73710276 [GRCh38] Chr7:68133294..72806397 [GRCh37] Chr7:67771230..72762542 [NCBI36] Chr7:7q11.22-11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	copy number gain	See cases [RCV000051965]	Chr7:72649515..75361855 [GRCh38] Chr7:72196405..74991125 [GRCh37] Chr7:71752436..74829061 [NCBI36] Chr7:7q11.22-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	copy number gain	See cases [RCV000051966]	Chr7:72768821..74869255 [GRCh38] Chr7:72233835..74285345 [GRCh37] Chr7:71871771..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	copy number gain	See cases [RCV000051967]	Chr7:73280574..74725240 [GRCh38] Chr7:72665462..74139573 [GRCh37] Chr7:72303398..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	copy number gain	See cases [RCV000051986]	Chr7:73280574..74725240 [GRCh38] Chr7:72679397..74139573 [GRCh37] Chr7:72317333..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	copy number gain	See cases [RCV000051989]	Chr7:73280574..74839100 [GRCh38] Chr7:72683244..74267189 [GRCh37] Chr7:72321180..73905125 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	copy number gain	See cases [RCV000051990]	Chr7:73312575..74723034 [GRCh38] Chr7:72726571..74137354 [GRCh37] Chr7:72364507..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	copy number loss	See cases [RCV000053133]	Chr7:73096542..74727989 [GRCh38] Chr7:72507129..74142327 [GRCh37] Chr7:72145065..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	copy number loss	See cases [RCV000053143]	Chr7:73280574..74723034 [GRCh38] Chr7:72681397..74137354 [GRCh37] Chr7:72319333..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	copy number loss	See cases [RCV000053144]	Chr7:73286412..74723034 [GRCh38] Chr7:72700414..74137354 [GRCh37] Chr7:72338350..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	copy number gain	See cases [RCV000053146]	Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	copy number loss	See cases [RCV000053147]	Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	copy number loss	See cases [RCV000053150]	Chr7:73286412..74707848 [GRCh38] Chr7:72700414..74122179 [GRCh37] Chr7:72338350..73760115 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	copy number loss	See cases [RCV000054111]	Chr7:69382353..77823832 [GRCh38] Chr7:68847339..77453149 [GRCh37] Chr7:68485275..77291085 [NCBI36] Chr7:7q11.22-11.23	pathogenic
NM_178125.3(TRIM50):c.688G>A (p.Glu230Lys)	single nucleotide variant	Malignant melanoma [RCV000067932]	Chr7:73318860 [GRCh38] Chr7:72732859 [GRCh37] Chr7:72370795 [NCBI36] Chr7:7q11.23	not provided
NM_178125.3(TRIM50):c.858C>T (p.Phe286=)	single nucleotide variant	Malignant melanoma [RCV000061673]	Chr7:73316581 [GRCh38] Chr7:72730580 [GRCh37] Chr7:72368516 [NCBI36] Chr7:7q11.23	not provided
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	copy number loss	See cases [RCV000134329]	Chr7:73304255..74718954 [GRCh38] Chr7:72718252..74133273 [GRCh37] Chr7:72356188..73771209 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3	copy number gain	See cases [RCV000134603]	Chr7:73324677..73352304 [GRCh38] Chr7:72738675..72766313 [GRCh37] Chr7:72376611..72404249 [NCBI36] Chr7:7q11.23	benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	copy number loss	See cases [RCV000135816]	Chr7:71461127..73614730 [GRCh38] Chr7:70926112..72806397 [GRCh37] Chr7:70564048..72666996 [NCBI36] Chr7:7q11.22-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	copy number gain	See cases [RCV000135712]	Chr7:73040501..75255046 [GRCh38] Chr7:74285295..76351578 [GRCh37] Chr7:73923231..76189514 [NCBI36] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	copy number gain	See cases [RCV000136287]	Chr7:72938064..74779028 [GRCh38] Chr7:72408602..74193374 [GRCh37] Chr7:72046538..73831310 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	copy number loss	See cases [RCV000136391]	Chr7:73280574..74924007 [GRCh38] Chr7:72636006..74339014 [GRCh37] Chr7:72273942..73976950 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	copy number loss	See cases [RCV000136793]	Chr7:73312582..74725057 [GRCh38] Chr7:72726578..74139390 [GRCh37] Chr7:72364514..73777326 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	copy number gain	See cases [RCV000138102]	Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	copy number loss	See cases [RCV000138103]	Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1	copy number loss	See cases [RCV000137730]	Chr7:73286412..73556222 [GRCh38] Chr7:72338350..72608488 [NCBI36] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	copy number gain	See cases [RCV000137731]	Chr7:73040501..75255046 [GRCh38] Chr7:72635638..74904285 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	copy number loss	See cases [RCV000138355]	Chr7:73286412..74727989 [GRCh38] Chr7:72700414..74142327 [GRCh37] Chr7:72338350..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	copy number gain	See cases [RCV000138356]	Chr7:73280574..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23	pathogenic\|conflicting data from submitters
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	copy number loss	See cases [RCV000138357]	Chr7:73271690..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	copy number loss	See cases [RCV000139190]	Chr7:73192369..74869255 [GRCh38] Chr7:72606409..74285345 [GRCh37] Chr7:72244345..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	copy number gain	See cases [RCV000139121]	Chr7:73280574..74779057 [GRCh38] Chr7:72663962..74193403 [GRCh37] Chr7:72301898..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	copy number loss	See cases [RCV000139797]	Chr7:73286412..74869255 [GRCh38] Chr7:72700414..74285345 [GRCh37] Chr7:72338350..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	copy number loss	See cases [RCV000140662]	Chr7:73286412..74779057 [GRCh38] Chr7:72700414..74193403 [GRCh37] Chr7:72338350..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	copy number gain	See cases [RCV000140718]	Chr7:73192369..74883978 [GRCh38] Chr7:72606409..74300084 [GRCh37] Chr7:72244345..73938020 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	copy number gain	See cases [RCV000141703]	Chr7:73175475..74740268 [GRCh38] Chr7:72589515..74154603 [GRCh37] Chr7:72227451..73792539 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	copy number gain	See cases [RCV000142341]	Chr7:73286125..74732517 [GRCh38] Chr7:72700127..74146858 [GRCh37] Chr7:72338063..73784794 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	copy number loss	See cases [RCV000142414]	Chr7:73280574..74789341 [GRCh38] Chr7:72637824..74203685 [GRCh37] Chr7:72275760..73841621 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	copy number gain	See cases [RCV000142242]	Chr7:62977085..75415352 [GRCh38] Chr7:62437463..75044630 [GRCh37] Chr7:62074898..74882566 [NCBI36] Chr7:7q11.21-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	copy number loss	See cases [RCV000142230]	Chr7:73286508..74727852 [GRCh38] Chr7:72700510..74142190 [GRCh37] Chr7:72338446..73780126 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	copy number loss	See cases [RCV000142156]	Chr7:73280574..74727918 [GRCh38] Chr7:72650120..74142256 [GRCh37] Chr7:72288056..73780192 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	copy number loss	See cases [RCV000142159]	Chr7:73286522..74727156 [GRCh38] Chr7:72700524..74141494 [GRCh37] Chr7:72338460..73779430 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	copy number loss	See cases [RCV000142891]	Chr7:73286412..74758583 [GRCh38] Chr7:72700414..74172913 [GRCh37] Chr7:72338350..73810849 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	copy number loss	See cases [RCV000142528]	Chr7:62736364..75432710 [GRCh38] Chr7:62196742..75061986 [GRCh37] Chr7:61834177..74899922 [NCBI36] Chr7:7q11.21-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	copy number gain	See cases [RCV000143390]	Chr7:73280574..74728722 [GRCh38] Chr7:72677301..74143060 [GRCh37] Chr7:72315237..73780996 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	copy number loss	See cases [RCV000143344]	Chr7:71478043..73444574 [GRCh38] Chr7:70943028..72806397 [GRCh37] Chr7:70580964..72496840 [NCBI36] Chr7:7q11.22-11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	copy number loss	See cases [RCV000143632]	Chr7:73304280..74727852 [GRCh38] Chr7:72718277..74142190 [GRCh37] Chr7:72356213..73780126 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	copy number gain	See cases [RCV000143454]	Chr7:72179092..79164071 [GRCh38] Chr7:71644077..78793387 [GRCh37] Chr7:71282013..78631323 [NCBI36] Chr7:7q11.22-21.11	likely pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1	copy number loss	See cases [RCV000239835]	Chr7:72718252..74133332 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1	copy number loss	See cases [RCV000239823]	Chr7:72708237..74339044 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1	copy number loss	See cases [RCV000258813]	Chr7:72722981..74217390 [GRCh37] Chr7:7q11.23	pathogenic\|likely pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1	copy number loss	See cases [RCV000207450]	Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Autism spectrum disorder [RCV000225382]	Chr7:72718278..74140708 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3	copy number gain	See cases [RCV000240527]	Chr7:71968212..74133332 [GRCh37] Chr7:7q11.22-11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72721449-73959106)	copy number loss	Williams syndrome [RCV000767559]	Chr7:72721449..73959106 [GRCh37] Chr7:7q11.23	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1	copy number loss	See cases [RCV000449356]	Chr7:72713253..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1	copy number loss	See cases [RCV000449372]	Chr7:72718277..74141673 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3	copy number gain	See cases [RCV000446793]	Chr7:72700127..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1	copy number loss	See cases [RCV000447530]	Chr7:72713253..74143030 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	copy number loss	See cases [RCV000447273]	Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1	copy number loss	See cases [RCV000446832]	Chr7:72708237..74133273 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3	copy number gain	See cases [RCV000446236]	Chr7:72686958..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-72730551)x3	copy number gain	See cases [RCV000446731]	Chr7:72718252..72730551 [GRCh37] Chr7:7q11.23	benign
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	copy number loss	See cases [RCV000447620]	Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1	copy number loss	See cases [RCV000446172]	Chr7:72718277..74146948 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1	copy number loss	See cases [RCV000447454]	Chr7:72718277..74142215 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3	copy number gain	See cases [RCV000445755]	Chr7:72692112..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1	copy number loss	See cases [RCV000447774]	Chr7:72700524..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1	copy number loss	See cases [RCV000448046]	Chr7:72718277..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1	copy number loss	See cases [RCV000448666]	Chr7:72718123..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3	copy number gain	See cases [RCV000448344]	Chr7:72472922..74259176 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	copy number gain	See cases [RCV000512048]	Chr7:72677301..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3	copy number gain	See cases [RCV000512105]	Chr7:72700524..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1	copy number loss	See cases [RCV000512130]	Chr7:72643631..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1	copy number loss	See cases [RCV000510243]	Chr7:72691242..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	copy number loss	See cases [RCV000510195]	Chr7:72718277..74287433 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1	copy number loss	See cases [RCV000510198]	Chr7:72718277..74259899 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1	copy number loss	See cases [RCV000510144]	Chr7:72701018..74141493 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1	copy number loss	See cases [RCV000511510]	Chr7:72718277..73898515 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1	copy number loss	See cases [RCV000511528]	Chr7:72718277..74146858 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3	copy number gain	See cases [RCV000511487]	Chr7:72692112..74154497 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	copy number loss	See cases [RCV000511955]	Chr7:72718277..74141494 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3	copy number gain	See cases [RCV000510884]	Chr7:72677173..74143140 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	copy number loss	See cases [RCV000511254]	Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3	copy number gain	See cases [RCV000510938]	Chr7:72589515..74165401 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	copy number loss	See cases [RCV000510782]	Chr7:72456604..76007380 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1	copy number loss	See cases [RCV000515566]	Chr7:72722981..73198616 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1177C>T (p.Arg393Trp)	single nucleotide variant	not specified [RCV004282594]	Chr7:73313208 [GRCh38] Chr7:72727204 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1	copy number loss	See cases [RCV000512220]	Chr7:72718277..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1	copy number loss	See cases [RCV000512310]	Chr7:72536980..74629034 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3	copy number gain	See cases [RCV000512328]	Chr7:72577021..74197846 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3	copy number gain	See cases [RCV000512332]	Chr7:72659674..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3	copy number gain	not provided [RCV000682843]	Chr7:72686958..73113924 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	copy number loss	not provided [RCV000682892]	Chr7:72608514..74386749 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	copy number loss	not provided [RCV000682895]	Chr7:72612042..74574641 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	copy number gain	not provided [RCV000682886]	Chr7:72701018..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3	copy number gain	not provided [RCV000682883]	Chr7:72700524..74069858 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	copy number loss	not provided [RCV000682885]	Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	copy number gain	not provided [RCV000682888]	Chr7:72576872..74175429 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	copy number gain	not provided [RCV000682898]	Chr7:72577021..74859638 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	copy number loss	not provided [RCV000682894]	Chr7:72589515..74386749 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	copy number gain	not provided [RCV000682887]	Chr7:72577021..74147166 [GRCh37] Chr7:7q11.23	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1	copy number loss	not provided [RCV000746793]	Chr7:72719386..74218536 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1	copy number loss	not provided [RCV000746791]	Chr7:72650265..74138603 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Schizophrenia [RCV000754333]	Chr7:73312644..74726596 [GRCh38] Chr7:7q11.23	pathogenic
Single allele	duplication	Autism [RCV000754334]	Chr7:73323103..74726596 [GRCh38] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1	copy number loss	not provided [RCV000746792]	Chr7:72653306..74134911 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1	copy number loss	not provided [RCV000746794]	Chr7:72722981..74200092 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1	copy number loss	not provided [RCV000746789]	Chr7:72305671..74196360 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1	copy number loss	not provided [RCV000746790]	Chr7:72650106..74138603 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Intestinal malrotation [RCV000754986]	Chr7:72634873..74142327 [GRCh37] Chr7:7q11.23	likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142190)	copy number loss	Williams syndrome [RCV000767639]	Chr7:72700996..74142190 [GRCh37] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.1444G>A (p.Glu482Lys)	single nucleotide variant	not specified [RCV004332767]	Chr7:73312941 [GRCh38] Chr7:72726937 [GRCh37] Chr7:7q11.23	uncertain significance
Single allele	deletion	not provided [RCV000768460]	Chr7:72682338..74141250 [GRCh37] Chr7:7q11.23	likely pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787465]	Chr7:72699382..74142329 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787466]	Chr7:72726590..74142329 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	copy number loss	not provided [RCV001005967]	Chr7:72621722..76007380 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Neurodevelopmental disorder [RCV000787457]	Chr7:72364526..73780265 [GRCh37] Chr7:7q11.23	likely pathogenic
GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3	copy number gain	not provided [RCV000847348]	Chr7:72700510..72874856 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.268G>A (p.Val90Met)	single nucleotide variant	not specified [RCV004304275]	Chr7:73324520 [GRCh38] Chr7:72738518 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.766G>A (p.Ala256Thr)	single nucleotide variant	not specified [RCV004304321]	Chr7:73316673 [GRCh38] Chr7:72730672 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72717395-74173168)	copy number loss	Williams syndrome [RCV003236746]	Chr7:72717395..74173168 [GRCh37] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.92G>T (p.Cys31Phe)	single nucleotide variant	not specified [RCV004298498]	Chr7:73324696 [GRCh38] Chr7:72738694 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.363G>A (p.Pro121=)	single nucleotide variant	not provided [RCV000909370]	Chr7:73324425 [GRCh38] Chr7:72738423 [GRCh37] Chr7:7q11.23	benign
GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	copy number loss	not provided [RCV002472631]	Chr7:72654782..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	copy number loss	not provided [RCV002472618]	Chr7:72643632..74143060 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-72822709)x3	copy number gain	not provided [RCV002473807]	Chr7:72718278..72822709 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	copy number gain	See cases [RCV001194543]	Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	deletion	Williams syndrome [RCV001172267]	Chr7:72657228..74160300 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	copy number loss	not provided [RCV001260005]	Chr7:68977230..73939510 [GRCh37] Chr7:7q11.22-11.23	pathogenic
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	copy number loss	See cases [RCV002285079]	Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)	copy number loss	Williams syndrome [RCV002280679]	Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142256)	copy number loss	Williams syndrome [RCV002280681]	Chr7:72700996..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	copy number gain	not provided [RCV001258797]	Chr7:72659674..74164894 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	copy number loss	not provided [RCV001258798]	Chr7:72403117..76709600 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	copy number loss	Williams syndrome [RCV001352633]	Chr7:71847968..73391310 [GRCh37] Chr7:7q11.22-11.23	likely pathogenic
GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	copy number loss	not provided [RCV001270666]	Chr7:72717369..74142224 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74142190)	copy number loss	Williams syndrome [RCV002280674]	Chr7:72718123..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589195-74225562)	copy number loss	Williams syndrome [RCV002280675]	Chr7:72589195..74225562 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	copy number gain	Distal 7q11.23 microdeletion syndrome [RCV001801209]	Chr7:72717345..74133310 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034)	copy number loss	Williams syndrome [RCV002280676]	Chr7:72589515..74629034 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701084-74142190)	copy number loss	Williams syndrome [RCV002280683]	Chr7:72701084..74142190 [GRCh37] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.1352A>C (p.Tyr451Ser)	single nucleotide variant	not specified [RCV004301713]	Chr7:73313033 [GRCh38] Chr7:72727029 [GRCh37] Chr7:7q11.23	uncertain significance
NC_000007.14:g.73304277_74727414del	deletion	Williams syndrome [RCV003318489]	Chr7:73304277..74727414 [GRCh38] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72645013-74142190)	copy number loss	Williams syndrome [RCV002280678]	Chr7:72645013..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700942-74142190)	copy number loss	Williams syndrome [RCV002280682]	Chr7:72700942..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7q11.23(chr7:72686958-74155067)	copy number gain	7q11.23 microduplication syndrome [RCV002280765]	Chr7:72686958..74155067 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74142190)	copy number loss	Williams syndrome [RCV002280684]	Chr7:72700127..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	copy number loss	not provided [RCV002472548]	Chr7:72718278..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	copy number loss	not provided [RCV002474679]	Chr7:72718278..74143060 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	copy number loss	not provided [RCV002473955]	Chr7:72718278..74143240 [GRCh37] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.947T>G (p.Val316Gly)	single nucleotide variant	not specified [RCV004201890]	Chr7:73313438 [GRCh38] Chr7:72727434 [GRCh37] Chr7:7q11.23	uncertain significance
Single allele	deletion	Williams syndrome [RCV003234736]	Chr7:73214501..74773500 [GRCh38] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.1125G>C (p.Lys375Asn)	single nucleotide variant	not specified [RCV004146710]	Chr7:73313260 [GRCh38] Chr7:72727256 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.488G>A (p.Arg163Gln)	single nucleotide variant	not specified [RCV004159742]	Chr7:73320154 [GRCh38] Chr7:72734153 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.605G>A (p.Arg202His)	single nucleotide variant	not specified [RCV004136831]	Chr7:73318943 [GRCh38] Chr7:72732942 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1171G>A (p.Glu391Lys)	single nucleotide variant	not specified [RCV004147358]	Chr7:73313214 [GRCh38] Chr7:72727210 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.368C>T (p.Thr123Met)	single nucleotide variant	not specified [RCV004206210]	Chr7:73324420 [GRCh38] Chr7:72738418 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.128T>C (p.Leu43Pro)	single nucleotide variant	not specified [RCV004139455]	Chr7:73324660 [GRCh38] Chr7:72738658 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1423G>C (p.Gly475Arg)	single nucleotide variant	not specified [RCV004148473]	Chr7:73312962 [GRCh38] Chr7:72726958 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.460A>G (p.Ile154Val)	single nucleotide variant	not specified [RCV004179705]	Chr7:73320182 [GRCh38] Chr7:72734181 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.525C>G (p.Ile175Met)	single nucleotide variant	not specified [RCV004119259]	Chr7:73319023 [GRCh38] Chr7:72733022 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.470T>C (p.Leu157Pro)	single nucleotide variant	not specified [RCV004213324]	Chr7:73320172 [GRCh38] Chr7:72734171 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1405G>A (p.Val469Met)	single nucleotide variant	not specified [RCV004117152]	Chr7:73312980 [GRCh38] Chr7:72726976 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.527G>A (p.Arg176His)	single nucleotide variant	not specified [RCV004213827]	Chr7:73319021 [GRCh38] Chr7:72733020 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1150G>T (p.Val384Leu)	single nucleotide variant	not specified [RCV004219088]	Chr7:73313235 [GRCh38] Chr7:72727231 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1084C>T (p.Arg362Cys)	single nucleotide variant	not specified [RCV004172865]	Chr7:73313301 [GRCh38] Chr7:72727297 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.368C>A (p.Thr123Lys)	single nucleotide variant	not specified [RCV004223022]	Chr7:73324420 [GRCh38] Chr7:72738418 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1024C>T (p.Arg342Cys)	single nucleotide variant	not specified [RCV004156702]	Chr7:73313361 [GRCh38] Chr7:72727357 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.389G>A (p.Ser130Asn)	single nucleotide variant	not specified [RCV004175451]	Chr7:73324399 [GRCh38] Chr7:72738397 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.784G>A (p.Ala262Thr)	single nucleotide variant	not specified [RCV004099425]	Chr7:73316655 [GRCh38] Chr7:72730654 [GRCh37] Chr7:7q11.23	likely benign
NM_178125.3(TRIM50):c.481C>T (p.Arg161Trp)	single nucleotide variant	not specified [RCV004231643]	Chr7:73320161 [GRCh38] Chr7:72734160 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.272A>G (p.His91Arg)	single nucleotide variant	not specified [RCV004147247]	Chr7:73324516 [GRCh38] Chr7:72738514 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.592G>C (p.Gly198Arg)	single nucleotide variant	not specified [RCV004193132]	Chr7:73318956 [GRCh38] Chr7:72732955 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.169C>T (p.Arg57Trp)	single nucleotide variant	not specified [RCV004194112]	Chr7:73324619 [GRCh38] Chr7:72738617 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.50C>T (p.Pro17Leu)	single nucleotide variant	not specified [RCV004172047]	Chr7:73324738 [GRCh38] Chr7:72738736 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.56G>A (p.Cys19Tyr)	single nucleotide variant	not specified [RCV004114464]	Chr7:73324732 [GRCh38] Chr7:72738730 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1237C>T (p.Arg413Cys)	single nucleotide variant	not specified [RCV004093872]	Chr7:73313148 [GRCh38] Chr7:72727144 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.107G>T (p.Cys36Phe)	single nucleotide variant	not specified [RCV004275787]	Chr7:73324681 [GRCh38] Chr7:72738679 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1238G>A (p.Arg413His)	single nucleotide variant	not specified [RCV004267476]	Chr7:73313147 [GRCh38] Chr7:72727143 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.226G>A (p.Glu76Lys)	single nucleotide variant	not specified [RCV004249205]	Chr7:73324562 [GRCh38] Chr7:72738560 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.440A>G (p.Gln147Arg)	single nucleotide variant	not specified [RCV004249996]	Chr7:73320202 [GRCh38] Chr7:72734201 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.859C>T (p.Arg287Trp)	single nucleotide variant	not specified [RCV004266901]	Chr7:73316580 [GRCh38] Chr7:72730579 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.154C>T (p.Arg52Cys)	single nucleotide variant	not specified [RCV004251707]	Chr7:73324634 [GRCh38] Chr7:72738632 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73229597-74727852)	copy number loss	Williams syndrome [RCV003223593]	Chr7:73229597..74727852 [GRCh38] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.889A>G (p.Lys297Glu)	single nucleotide variant	not specified [RCV004266285]	Chr7:73313496 [GRCh38] Chr7:72727492 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.394A>G (p.Met132Val)	single nucleotide variant	not specified [RCV004267656]	Chr7:73324394 [GRCh38] Chr7:72738392 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.268G>C (p.Val90Leu)	single nucleotide variant	not specified [RCV004249483]	Chr7:73324520 [GRCh38] Chr7:72738518 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.477C>A (p.Asn159Lys)	single nucleotide variant	not specified [RCV004684741]	Chr7:73320165 [GRCh38] Chr7:72734164 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72664461-74162586)	copy number gain	7q11.23 microduplication syndrome [RCV003319591]	Chr7:72664461..74162586 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142256)	copy number gain	7q11.23 microduplication syndrome [RCV003320440]	Chr7:72718277..74142256 [GRCh37] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.1204C>G (p.Arg402Gly)	single nucleotide variant	not specified [RCV004342680]	Chr7:73313181 [GRCh38] Chr7:72727177 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.194C>T (p.Ser65Phe)	single nucleotide variant	not specified [RCV004346945]	Chr7:73324594 [GRCh38] Chr7:72738592 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.955G>C (p.Gly319Arg)	single nucleotide variant	not specified [RCV004340690]	Chr7:73313430 [GRCh38] Chr7:72727426 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	copy number gain	not provided [RCV003484684]	Chr7:72547476..74263704 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-72818671)x1	copy number loss	not provided [RCV003482964]	Chr7:72718278..72818671 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1224C>T (p.Ala408=)	single nucleotide variant	not provided [RCV003433859]	Chr7:73313161 [GRCh38] Chr7:72727157 [GRCh37] Chr7:7q11.23	likely benign
NM_178125.3(TRIM50):c.1419C>A (p.Pro473=)	single nucleotide variant	not provided [RCV003433858]	Chr7:73312966 [GRCh38] Chr7:72726962 [GRCh37] Chr7:7q11.23	likely benign
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	copy number gain	not specified [RCV003986700]	Chr7:72732819..76003862 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	copy number gain	not specified [RCV003986715]	Chr7:66776724..74629034 [GRCh37] Chr7:7q11.21-11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	copy number gain	not provided [RCV004442782]	Chr7:72701099..74186150 [GRCh37] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	copy number gain	7q11.23 microduplication syndrome [RCV004556973]	Chr7:73247356..74727974 [GRCh38] Chr7:7q11.23	pathogenic
NM_178125.3(TRIM50):c.1042C>T (p.Arg348Cys)	single nucleotide variant	not specified [RCV004475960]	Chr7:73313343 [GRCh38] Chr7:72727339 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.623T>C (p.Leu208Pro)	single nucleotide variant	not specified [RCV004475966]	Chr7:73318925 [GRCh38] Chr7:72732924 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1136C>T (p.Ser379Phe)	single nucleotide variant	not specified [RCV004475961]	Chr7:73313249 [GRCh38] Chr7:72727245 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1378G>C (p.Glu460Gln)	single nucleotide variant	not specified [RCV004475962]	Chr7:73313007 [GRCh38] Chr7:72727003 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.256C>G (p.Pro86Ala)	single nucleotide variant	not specified [RCV004475963]	Chr7:73324532 [GRCh38] Chr7:72738530 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.25G>A (p.Glu9Lys)	single nucleotide variant	not specified [RCV004475964]	Chr7:73324763 [GRCh38] Chr7:72738761 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.338T>A (p.Leu113Gln)	single nucleotide variant	not specified [RCV004475965]	Chr7:73324450 [GRCh38] Chr7:72738448 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.770G>A (p.Arg257Gln)	single nucleotide variant	not specified [RCV004475968]	Chr7:73316669 [GRCh38] Chr7:72730668 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.890A>G (p.Lys297Arg)	single nucleotide variant	not specified [RCV004475969]	Chr7:73313495 [GRCh38] Chr7:72727491 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.991C>T (p.Arg331Cys)	single nucleotide variant	not specified [RCV004687672]	Chr7:73313394 [GRCh38] Chr7:72727390 [GRCh37] Chr7:7q11.23	uncertain significance
NC_000007.14:g.(?_73303398)_(74735532_?)del	deletion	Williams syndrome [RCV004586468]	Chr7:73303398..74735532 [GRCh38] Chr7:7q11.23	likely pathogenic
NM_178125.3(TRIM50):c.1162G>A (p.Gly388Ser)	single nucleotide variant	not specified [RCV004687671]	Chr7:73313223 [GRCh38] Chr7:72727219 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1085G>A (p.Arg362His)	single nucleotide variant	not specified [RCV004687668]	Chr7:73313300 [GRCh38] Chr7:72727296 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.656G>A (p.Arg219Gln)	single nucleotide variant	not specified [RCV004687669]	Chr7:73318892 [GRCh38] Chr7:72732891 [GRCh37] Chr7:7q11.23	likely benign
NM_178125.3(TRIM50):c.205G>A (p.Val69Ile)	single nucleotide variant	not specified [RCV004684739]	Chr7:73324583 [GRCh38] Chr7:72738581 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.13G>A (p.Val5Met)	single nucleotide variant	not specified [RCV004684740]	Chr7:73324775 [GRCh38] Chr7:72738773 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.578G>A (p.Cys193Tyr)	single nucleotide variant	not specified [RCV004684742]	Chr7:73318970 [GRCh38] Chr7:72732969 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.548A>G (p.His183Arg)	single nucleotide variant	not specified [RCV004881021]	Chr7:73319000 [GRCh38] Chr7:72732999 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.761C>T (p.Pro254Leu)	single nucleotide variant	not specified [RCV004881022]	Chr7:73316678 [GRCh38] Chr7:72730677 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.278G>A (p.Arg93Gln)	single nucleotide variant	not specified [RCV004881023]	Chr7:73324510 [GRCh38] Chr7:72738508 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.58C>A (p.Leu20Met)	single nucleotide variant	not specified [RCV004881024]	Chr7:73324730 [GRCh38] Chr7:72738728 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.111G>T (p.Lys37Asn)	single nucleotide variant	not specified [RCV004881025]	Chr7:73324677 [GRCh38] Chr7:72738675 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.373G>A (p.Val125Ile)	single nucleotide variant	not specified [RCV004881026]	Chr7:73324415 [GRCh38] Chr7:72738413 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.10C>A (p.Gln4Lys)	single nucleotide variant	not specified [RCV004881027]	Chr7:73324778 [GRCh38] Chr7:72738776 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.1310G>A (p.Arg437Gln)	single nucleotide variant	not specified [RCV004881028]	Chr7:73313075 [GRCh38] Chr7:72727071 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.526C>T (p.Arg176Cys)	single nucleotide variant	not specified [RCV004881029]	Chr7:73319022 [GRCh38] Chr7:72733021 [GRCh37] Chr7:7q11.23	uncertain significance
NM_178125.3(TRIM50):c.709C>A (p.His237Asn)	single nucleotide variant	not specified [RCV004881030]	Chr7:73318839 [GRCh38] Chr7:72732838 [GRCh37] Chr7:7q11.23	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1170
Count of miRNA genes:	644
Interacting mature miRNAs:	734
Transcripts:	ENST00000333149, ENST00000453152, ENST00000488217, ENST00000493498
Prediction methods:	Microtar, Miranda, Rnahybrid
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.

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

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	renal system	reproductive system	respiratory system	sensory system
1183	2253	2595	1964	4362	1606	1982	2	545	1045	394	2034	5807	5187	17	3315	715	1541	1357	155


RefSeq Transcripts	NM_001281450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001281451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047419880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC073841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC211485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC211540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI208986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY081948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY081949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA045168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA632418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY014417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000333149 ⟹ ENSP00000327994

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,312,536 - 73,328,082 (-)	Ensembl

Ensembl Acc Id:

ENST00000453152 ⟹ ENSP00000413875

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,312,911 - 73,325,571 (-)	Ensembl

Ensembl Acc Id:

ENST00000488217

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,313,341 - 73,316,942 (-)	Ensembl

Ensembl Acc Id:

ENST00000493498

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,321,899 - 73,327,954 (-)	Ensembl

RefSeq Acc Id:

NM_001281450 ⟹ NP_001268379

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,328,082 (-)	NCBI
GRCh37	7	72,726,532 - 72,742,085 (-)	NCBI
HuRef	7	68,608,274 - 68,623,822 (-)	NCBI
CHM1_1	7	72,872,558 - 72,888,104 (-)	NCBI
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI
CRA_TCAGchr7v2	7	72,059,604 - 72,075,157 (-)	NCBI

Sequence:

show sequence

AGAGCATGATGGGGCACGCGCGGTAGCGCGAGGCGGGGCATGTAACCATAGCGTGCGGGTCATGATGAGGCACGGACGTGGGGGGTTAGGTGGGGCACGTAATTGGAGCTCGCGGGGCAGGATGGGGC
ATCTAACTGGAGCGACAGAGAGCACGATGGGGCACTTACAGGGGCCGGAGGCTGGCCCGGGCAGTGAGTGTGGATGGCTTGGCAGGTGAGCCTGCCAGAGCTGGAGGACCGGCTTCAGTGTCCCATCT
GCCTGGAGGTCTTCAAGGAGCCCCTGATGCTGCAGTGTGGCCACTCTTACTGCAAGGGCTGCCTGGTTTCCCTGTCCTGCCACCTGGATGCCGAGCTGCGCTGCCCCGTGTGCCGGCAGGCGGTGGAC
GGCAGCAGCTCCCTGCCCAACGTCTCCCTGGCCAGGGTGATCGAAGCCCTGAGGCTCCCTGGGGACCCGGAGCCCAAGGTCTGCGTGCACCACCGGAACCCGCTCAGCCTTTTCTGCGAGAAGGACCA
GGAGCTCATCTGTGGCCTCTGCGGTCTGCTGGGCTCCCACCAACACCACCCGGTCACGCCCGTCTCCACCGTCTACAGCCGCATGAAGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGC
AGAAAAAGGTGGATGAGCTCATCGCCAAACTGGTGAACAACCGGACCCGAATCGTCAATGAGTCGGATGTCTTCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAG
AAGGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGCAGCTGGAGCAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTT
CGGCAATGAGGACCACCACAAGTTCATCCGGTTCCACTCCATGGCCTCCAGAGCAGAGATGCCGCAGGCCCGGCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCTG
ACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGCCCCGGAGCCTCTCAAGTTGGACCCTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTGC
GGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCGCTTCGACTACAGCACCTGCGTCCTGGCCAGCCGCGGCTTCTCCTGCGGCCGCCACTACTGGGAGGTGGTGGTGGGCAGCAAGAGCGACTG
GCGCCTGGGGGTCATCAAGGGCACAGCCAGCCGTAAGGGCAAGCTGAACAGGTCCCCCGAGCACGGCGTGTGGCTGATCGGCCTGAAGGAGGGCCGGGTGTACGAAGCCTTTGCCTGCCCCCGGGTAC
CCCTGCCCGTGGCCGGCCACCCCCACCGCATCGGGCTCTACCTGCACTATGAGCAGGGCGAACTCACCTTCTTCGATGCCGACCGCCCCGATGACCTGCGGCCGCTCTACACCTTCCAGGCCGACTTC
CAGGGCAAGCTCTACCCCATCCTGGACACCTGCTGGCACGAGAGGGGCAGCAACTCGCTGCCCATGGTGCTGCCCCCGCCCAGCGGGCCTGGCCCCCTCAGCCCCGAGCAGCCCACCAAGCTGTAGGG
CCGCCCGGAGTCCTGCCGGCCCACAGGCCCATCCCGGCGGGGCACCGGGGACTCGCGGGCTTCTGCTGGGTCCCGCCTGAGGTGATATCGTCACTGTTTAGGAAGGTCTTCAGGCCTGTGTGTCCCTG
GAACATGTAATGATAGGGAACAGGACCCCAGTCCCTTTCCCCTCAGCCAAGGGTGTATTTGTAAACTTCGGCCCCCAGGCCTTGGCAGCCAGGGACACACTGAAATCCCCATGGTTCCTGCCACTTGC
TAACCATGCTATCTGCGCAGACGCTTCCGAGGGCAGAAATAGTCCCATGTATACCTTTTCCATATTACTGTGAACTTTCAACTACTATCAAGGATAATAAATTTGACATTATTTCTTTCTCTTTAAA

hide sequence

RefSeq Acc Id:

NM_001281451 ⟹ NP_001268380

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,325,575 (-)	NCBI
GRCh37	7	72,726,532 - 72,742,085 (-)	NCBI
HuRef	7	68,608,274 - 68,623,822 (-)	NCBI
CHM1_1	7	72,872,558 - 72,885,597 (-)	NCBI
T2T-CHM13v2.0	7	74,512,695 - 74,525,747 (-)	NCBI
CRA_TCAGchr7v2	7	72,059,604 - 72,075,157 (-)	NCBI

Sequence:

show sequence

TGCATTTCCCACTTCTGACTCTGTGCCTGCTGTTCCCTGCTGGGAAGAAGGAAAGCCAGTGATGCTGGCTTGAGGCTGTAGTGGGAGGCCCAGCGGATTGTGAGAAGCCAGCCCGGGCAGTGAGTGTG
GATGGCTTGGCAGGTGAGCCTGCCAGAGCTGGAGGACCGGCTTCAGTGTCCCATCTGCCTGGAGGTCTTCAAGGAGCCCCTGATGCTGCAGTGTGGCCACTCTTACTGCAAGGGCTGCCTGGTTTCCC
TGTCCTGCCACCTGGATGCCGAGCTGCGCTGCCCCGTGTGCCGGCAGGCGGTGGACGGCAGCAGCTCCCTGCCCAACGTCTCCCTGGCCAGGGTGATCGAAGCCCTGAGGCTCCCTGGGGACCCGGAG
CCCAAGGTCTGCGTGCACCACCGGAACCCGCTCAGCCTTTTCTGCGAGAAGGACCAGGAGCTCATCTGTGGCCTCTGCGGTCTGCTGGGCTCCCACCAACACCACCCGGTCACGCCCGTCTCCACCGT
CTACAGCCGCATGAAGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGCAGAAAAAGGTGGATGAGCTCATCGCCAAACTGGTGAACAACCGGACCCGAATCGTCAATGAGTCGGATGTCT
TCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAGAAGGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGCAGCTGGAG
CAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTTCGGCAATGAGGACCACCACAAGTTCATCCGGAAGTTCCACTCCATGGCCTCCAGAGCAGAGATGCCGCAGGC
CCGGCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCTGACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGCCCCGGAGCCTCTCAAGTTGG
ACCCTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTGCGGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCGCTTCGACTACAGCACCTGCGTCCTGGCCAGC
CGCGGCTTCTCCTGCGGCCGCCACTACTGGGAGGTGGTGGTGGGCAGCAAGAGCGACTGGCGCCTGGGGGTCATCAAGGGCACAGCCAGCCGTAAGGGCAAGCTGAACAGGTCCCCCGAGCACGGCGT
GTGGCTGATCGGCCTGAAGGAGGGCCGGGTGTACGAAGCCTTTGCCTGCCCCCGGGTACCCCTGCCCGTGGCCGGCCACCCCCACCGCATCGGGCTCTACCTGCACTATGAGCAGGGCGAACTCACCT
TCTTCGATGCCGACCGCCCCGATGACCTGCGGCCGCTCTACACCTTCCAGGCCGACTTCCAGGGCAAGCTCTACCCCATCCTGGACACCTGCTGGCACGAGAGGGGCAGCAACTCGCTGCCCATGGTG
CTGCCCCCGCCCAGCGGGCCTGGCCCCCTCAGCCCCGAGCAGCCCACCAAGCTGTAGGGCCGCCCGGAGTCCTGCCGGCCCACAGGCCCATCCCGGCGGGGCACCGGGGACTCGCGGGCTTCTGCTGG
GTCCCGCCTGAGGTGATATCGTCACTGTTTAGGAAGGTCTTCAGGCCTGTGTGTCCCTGGAACATGTAATGATAGGGAACAGGACCCCAGTCCCTTTCCCCTCAGCCAAGGGTGTATTTGTAAACTTC
GGCCCCCAGGCCTTGGCAGCCAGGGACACACTGAAATCCCCATGGTTCCTGCCACTTGCTAACCATGCTATCTGCGCAGACGCTTCCGAGGGCAGAAATAGTCCCATGTATACCTTTTCCATATTACT
GTGAACTTTCAACTACTATCAAGGATAATAAATTTGACATTATTTCTTTCTCTTTAAA

hide sequence

RefSeq Acc Id:

NM_178125 ⟹ NP_835226

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,328,082 (-)	NCBI
GRCh37	7	72,726,532 - 72,742,085 (-)	NCBI
Build 36	7	72,364,471 - 72,380,021 (-)	NCBI Archive
Celera	7	68,204,827 - 68,220,367 (-)	RGD
HuRef	7	68,608,274 - 68,623,822 (-)	NCBI
CHM1_1	7	72,872,558 - 72,888,104 (-)	NCBI
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI
CRA_TCAGchr7v2	7	72,059,604 - 72,075,157 (-)	NCBI

Sequence:

show sequence

AGAGCATGATGGGGCACGCGCGGTAGCGCGAGGCGGGGCATGTAACCATAGCGTGCGGGTCATG
ATGAGGCACGGACGTGGGGGGTTAGGTGGGGCACGTAATTGGAGCTCGCGGGGCAGGATGGGGCATCTAACTGGAGCGACAGAGAGCACGATGGGGCACTTACAGGGGCCGGAGGCTGGCCCGGGCAG
TGAGTGTGGATGGCTTGGCAGGTGAGCCTGCCAGAGCTGGAGGACCGGCTTCAGTGTCCCATCTGCCTGGAGGTCTTCAAGGAGCCCCTGATGCTGCAGTGTGGCCACTCTTACTGCAAGGGCTGCCT
GGTTTCCCTGTCCTGCCACCTGGATGCCGAGCTGCGCTGCCCCGTGTGCCGGCAGGCGGTGGACGGCAGCAGCTCCCTGCCCAACGTCTCCCTGGCCAGGGTGATCGAAGCCCTGAGGCTCCCTGGGG
ACCCGGAGCCCAAGGTCTGCGTGCACCACCGGAACCCGCTCAGCCTTTTCTGCGAGAAGGACCAGGAGCTCATCTGTGGCCTCTGCGGTCTGCTGGGCTCCCACCAACACCACCCGGTCACGCCCGTC
TCCACCGTCTACAGCCGCATGAAGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGCAGAAAAAGGTGGATGAGCTCATCGCCAAACTGGTGAACAACCGGACCCGAATCGTCAATGAGTC
GGATGTCTTCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAGAAGGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGC
AGCTGGAGCAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTTCGGCAATGAGGACCACCACAAGTTCATCCGGAAGTTCCACTCCATGGCCTCCAGAGCAGAGATG
CCGCAGGCCCGGCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCTGACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGCCCCGGAGCCTCT
CAAGTTGGACCCTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTGCGGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCGCTTCGACTACAGCACCTGCGTCC
TGGCCAGCCGCGGCTTCTCCTGCGGCCGCCACTACTGGGAGGTGGTGGTGGGCAGCAAGAGCGACTGGCGCCTGGGGGTCATCAAGGGCACAGCCAGCCGTAAGGGCAAGCTGAACAGGTCCCCCGAG
CACGGCGTGTGGCTGATCGGCCTGAAGGAGGGCCGGGTGTACGAAGCCTTTGCCTGCCCCCGGGTACCCCTGCCCGTGGCCGGCCACCCCCACCGCATCGGGCTCTACCTGCACTATGAGCAGGGCGA
ACTCACCTTCTTCGATGCCGACCGCCCCGATGACCTGCGGCCGCTCTACACCTTCCAGGCCGACTTCCAGGGCAAGCTCTACCCCATCCTGGACACCTGCTGGCACGAGAGGGGCAGCAACTCGCTGC
CCATGGTGCTGCCCCCGCCCAGCGGGCCTGGCCCCCTCAGCCCCGAGCAGCCCACCAAGCTGTAGGGCCGCCCGGAGTCCTGCCGGCCCACAGGCCCATCCCGGCGGGGCACCGGGGACTCGCGGGCT
TCTGCTGGGTCCCGCCTGAGGTGATATCGTCACTGTTTAGGAAGGTCTTCAGGCCTGTGTGTCCCTGGAACATGTAATGATAGGGAACAGGACCCCAGTCCCTTTCCCCTCAGCCAAGGGTGTATTTG
TAAACTTCGGCCCCCAGGCCTTGGCAGCCAGGGACACACTGAAATCCCCATGGTTCCTGCCACTTGCTAACCATGCTATCTGCGCAGACGCTTCCGAGGGCAGAAATAGTCCCATGTATACCTTTTCC
ATATTACTGTGAACTTTCAACTACTATCAAGGATAATAAATTTGACATTATTTCTTTCTCTTTAAA

hide sequence

RefSeq Acc Id:

XM_011515787 ⟹ XP_011514089

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,325,575 (-)	NCBI

Sequence:

show sequence

TGCATTTCCCACTTCTGACTCTGTGCCTGCTGTTCCCTGCTGGGAAGAAGGAAAGCCAGTGATGCTGGCTTGAGGCTGTAGTGGGAGGCCCAGCGGATTGTGAGAAGCCAGCCCGGGCAGTGAGTGTG
GATGGCTTGGCAGGTGAGCCTGCCAGAGCTGGAGGACCGGCTTCAGTGTCCCATCTGCCTGGAGGTCTTCAAGGAGCCCCTGATGCTGCAGTGTGGCCACTCTTACTGCAAGGGCTGCCTGGTTTCCC
TGTCCTGCCACCTGGATGCCGAGCTGCGCTGCCCCGTGTGCCGGCAGGCGGTGGACGGCAGCAGCTCCCTGCCCAACGTCTCCCTGGCCAGGGTGATCGAAGCCCTGAGGCTCCCTGGGGACCCGGAG
CCCAAGGTCTGCGTGCACCACCGGAACCCGCTCAGCCTTTTCTGCGAGAAGGACCAGGAGCTCATCTGTGGCCTCTGCGGTCTGCTGGGCTCCCACCAACACCACCCGGTCACGCCCGTCTCCACCGT
CTACAGCCGCATGAAGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGCAGAAAAAGGTGGATGAGCTCATCGCCAAACTGGTGAACAACCGGACCCGAATCGTCAATGAGTCGGATGTCT
TCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAGAAGGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGCAGCTGGAG
CAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTTCGGCAATGAGGACCACCACAAGTTCATCCGGAAGTTCCACTCCATGGCCTCCAGAGCAGAGATGCCGCAGGC
CCGGCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCTGACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGGGAGCAGCCCTGTACTGGCCC
CTTCTAGACCCTGGGGCTAGAGAGATGAGGAAGACACAGCCCCTCTCCTTGGGGAGTTCAGGGCCTCCATCAGCTTCTGTGGGCCGGGTCTGCTGCCCTCCACGTGGCCTCACAGACCCTCTGTGATC
TCCCTCCCAGCCCCGGAGCCTCTCAAGTTGGACCCTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTGCGGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCG
CTTCGACTACAGCACCTGCGTCCTGGCCAGCCGCGGCTTCTCCTGCGGCCGC

hide sequence

RefSeq Acc Id:

XM_011515788 ⟹ XP_011514090

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,328,082 (-)	NCBI

Sequence:

show sequence

CGGGTCATGATGAGGCACGGACGTGGGGGGTTAGGTGGGGCACGTAATTGGAGCTCGCGGGGCA
GGATGGGGCATCTAACTGGAGCGACAGAGAGCACGATGGGGCACTTACAGGGGCCGGAGGCTGGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGCAGAAAAAGGTGGATGAGCTCATCG
CCAAACTGGTGAACAACCGGACCCGAATCGTCTGACCAGCCCTCCCTGTCCCAGAATGAGTCGGATGTCTTCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAGAA
GGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGCAGCTGGAGCAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTTCG
GCAATGAGGACCACCACAAGTTCATCCGGAAGTTCCACTCCATGGCCTCCAGAGCAGAGATGCCGCAGGCCCGGCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCT
GACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGCCCCGGAGCCTCTCAAGTTGGACCCTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTG
CGGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCGCTTCGACTACAGCACCTGCGTCCTGGCCAGCCGCGGCTTCTCCTGCGGCCGCCACTACTGGGAGGTGGTGGTGGGCAGCAAGAGCGACT
GGCGCCTGGGGGTCATCAAGGGCACAGCCAGCCGTAAGGGCAAGCTGAACAGGTCCCCCGAGCACGGCGTGTGGCTGATCGGCCTGAAGGAGGGCCGGGTGTACGAAGCCTTTGCCTGCCCCCGGGTA
CCCCTGCCCGTGGCCGGCCACCCCCACCGCATCGGGCTCTACCTGCACTATGAGCAGGGCGAACTCACCTTCTTCGATGCCGACCGCCCCGATGACCTGCGGCCGCTCTACACCTTCCAGGCCGACTT
CCAGGGCAAGCTCTACCCCATCCTGGACACCTGCTGGCACGAGAGGGGCAGCAACTCGCTGCCCATGGTGCTGCCCCCGCCCAGCGGGCCTGGCCCCCTCAGCCCCGAGCAGCCCACCAAGCTGTAGG
GCCGCCCGGAGTCCTGCCGGCCCACAGGCCCATCCCGGCGGGGCACCGGGGACTCGCGGGCTTCTGCTGGGTCCCGCCTGAGGTGATATCGTCACTGTTTAGGAAGGTCTTCAGGCCTGTGTGTCCCT
GGAACATGTAATGATAGGGAACAGGACCCCAGTCCCTTTCCCCTCAGCCAAGGGTGTATTTGTAAACTTCGGCCCCCAGGCCTTGGCAGCCAGGGACACACTGAAATCCCCATGGTTCCTGCCACTTG
CTAACCATGCTATCTGCGCAGACGCTTCCGAGGGCAGAAATAGTCCCATGTATACCTTTTCCATATTACTGTGAACTTTCAACTACTATCAAGGATAATAAATTTGACATTATTTCTTTCTCTTTAAA

hide sequence

RefSeq Acc Id:

XM_011515789 ⟹ XP_011514091

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,325,575 (-)	NCBI

Sequence:

show sequence

TGCATTTCCCACTTCTGACTCTGTGCCTGCTGTTCCCTGCTGGGAAGAAGGAAAGCCAGTGATGCTGGCTTGAGGCTGTAGTGGGAGGCCCAGCGGATTGTGAGAAGCCAGCCCGGGCAGTGAGTGTG
GATGGCTTGGCAGGTGAGCCTGCCAGAGCTGGAGGACCGGCTTCAGTGTCCCATCTGCCTGGAGGTCTTCAAGGAGCCCCTGATGCTGCAGTGTGGCCACTCTTACTGCAAGGGCTGCCTGGTTTCCC
TGTCCTGCCACCTGGATGCCGAGCTGCGCTGCCCCGTGTGCCGGCAGGCGGTGGACGGCAGCAGCTCCCTGCCCAACGTCTCCCTGGCCAGGGTGATCGAAGCCCTGAGGCTCCCTGGGGACCCGGAG
CCCAAGGTCTGCGTGCACCACCGGAACCCGCTCAGCCTTTTCTGCGAGAAGGACCAGGAGCTCATCTGTGGCCTCTGCGGTCTGCTGGGCTCCCACCAACACCACCCGGTCACGCCCGTCTCCACCGT
CTACAGCCGCATGAAGGAGGAGCTCGCAGCCCTCATCTCTGAGCTGAAGCAGGAGCAGAAAAAGGTGGATGAGCTCATCGCCAAACTGGTGAACAACCGGACCCGAATCGTCAATGAGTCGGATGTCT
TCAGCTGGGTGATCCGCCGCGAGTTCCAGGAGCTGCACCACCTGGTGGATGAGGAGAAGGCCCGCTGCCTGGAGGGGATAGGGGGTCACACCCGTGGCCTGGTGGCCTCCCTGGACATGCAGCTGGAG
CAGGCCCAGGGAACCCGGGAGCGGCTGGCCCAAGCCGAGTGTGTGCTGGAACAGTTCGGCAATGAGGACCACCACAAGTTCATCCGGTTCCACTCCATGGCCTCCAGAGCAGAGATGCCGCAGGCCCG
GCCCTTAGAAGGCGCATTCAGCCCCATCTCCTTCAAGCCAGGCCTCCACCAGGCTGACATCAAGCTGACCGTGTGGAAAAGGCTCTTCCGGAAAGTTTTGCCAGCCCCGGAGCCTCTCAAGTTGGACC
CTGCCACTGCCCACCCACTCCTGGAGCTCTCCAAGGGCAACACGGTGGTGCAGTGCGGGCTTCTGGCCCAGCGGCGAGCCAGCCAGCCTGAGCGCTTCGACTACAGCACCTGCGTCCTGGCCAGCCGC
GGCTTCTCCTGCGGCCGCCACTACTGGGAGGTGGTGGTGGGCAGCAAGAGCGACTGGCGCCTGGGGGTCATCAAGGGCACAGCCAGCCGTAAGGGCAAGCTGAACAGGTCCCCCGAGCACGGCGTGTG
GCTGATCGGCCTGAAGGAGGGCCGGGTGTACGAAGCCTTTGCCTGCCCCCGGGTACCCCTGCCCGTGGCCGGCCACCCCCACCGCATCGGGCTCTACCTGCACTATGAGCAGGGCGAACTCACCTTCT
TCGATGCCGACCGCCCCGATGACCTGCGGCCGCTCTACACCTTCCAGGCCGACTTCCAGGGCAAGCTCTACCCCATCCTGGACACCTGCTGGCACGAGAGGGGCAGCAACTCGCTGCCCATGGTGCTG
CCCCCGCCCAGCGGGCCTGGCCCCCTCAGCCCCGAGCAGCCCACCAAGCTGTAGGGCCGCCCGGAGTCCTGCCGGCCCACAGGCCCATCCCGGCGGGGCACCGGGGACTCGCGGGCTTCTGCTGGGTC
CCGCCTGAGGTGATATCGTCACTGTTTAGGAAGGTCTTCAGGCCTGTGTGTCCCTGGAACATGTAATGATAGGGAACAGGACCCCAGTCCCTTTCCCCTCAGCCAAGGGTGTATTTGTAAACTTCGGC
CCCCAGGCCTTGGCAGCCAGGGACACACTGAAATCCCCATGGTTCCTGCCACTTGCTAACCATGCTATCTGCGCAGACGCTTCCGAGGGCAGAAATAGTCCCATGTATACCTTTTCCATATTACTGTG
AACTTTCAACTACTATCAAGGATAATAAATTTGACATTATTTCTTTCTCTTTAAA

hide sequence

RefSeq Acc Id:

XM_047419880 ⟹ XP_047275836

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,312,536 - 73,328,082 (-)	NCBI

RefSeq Acc Id:

XM_054357228 ⟹ XP_054213203

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,512,695 - 74,525,747 (-)	NCBI

RefSeq Acc Id:

XM_054357229 ⟹ XP_054213204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,512,695 - 74,525,747 (-)	NCBI

RefSeq Acc Id:

XM_054357230 ⟹ XP_054213205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI

RefSeq Acc Id:

XM_054357231 ⟹ XP_054213206

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,512,695 - 74,528,253 (-)	NCBI


Protein RefSeqs	NP_001268379	(Get FASTA)	NCBI Sequence Viewer
	NP_001268380	(Get FASTA)	NCBI Sequence Viewer
	NP_835226	(Get FASTA)	NCBI Sequence Viewer
	XP_011514089	(Get FASTA)	NCBI Sequence Viewer
	XP_011514090	(Get FASTA)	NCBI Sequence Viewer
	XP_011514091	(Get FASTA)	NCBI Sequence Viewer
	XP_047275836	(Get FASTA)	NCBI Sequence Viewer
	XP_054213203	(Get FASTA)	NCBI Sequence Viewer
	XP_054213204	(Get FASTA)	NCBI Sequence Viewer
	XP_054213205	(Get FASTA)	NCBI Sequence Viewer
	XP_054213206	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI12153	(Get FASTA)	NCBI Sequence Viewer
	AAI12155	(Get FASTA)	NCBI Sequence Viewer
	AAI43788	(Get FASTA)	NCBI Sequence Viewer
	AAL91071	(Get FASTA)	NCBI Sequence Viewer
	AAL91072	(Get FASTA)	NCBI Sequence Viewer
	BAF84763	(Get FASTA)	NCBI Sequence Viewer
	EAW69688	(Get FASTA)	NCBI Sequence Viewer
	EAW69689	(Get FASTA)	NCBI Sequence Viewer
	EAW69691	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000327994
	ENSP00000327994.2
	ENSP00000413875
	ENSP00000413875.1
GenBank Protein	Q86XT4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_835226 ⟸ NM_178125
- Peptide Label:	isoform a
- UniProtKB:	Q86XT4 (UniProtKB/Swiss-Prot), Q86XT3 (UniProtKB/Swiss-Prot), Q2M204 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTV YSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQA RPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGV WLIGLKEGRVYEAFACPRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSPEQPTKL hide sequence

RefSeq Acc Id:	NP_001268379 ⟸ NM_001281450
- Peptide Label:	isoform b
- UniProtKB:	B7ZLG2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTV YSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRFHSMASRAEMPQAR PLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVW LIGLKEGRVYEAFACPRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSPEQPTKL hide sequence

RefSeq Acc Id:	NP_001268380 ⟸ NM_001281451
- Peptide Label:	isoform a
- UniProtKB:	Q86XT4 (UniProtKB/Swiss-Prot), Q86XT3 (UniProtKB/Swiss-Prot), Q2M204 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSSSLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTV YSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKARCLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQA RPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTCVLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGV WLIGLKEGRVYEAFACPRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNSLPMVLPPPSGPGPLSPEQPTKL hide sequence

RefSeq Acc Id:

XP_011514090 ⟸ XM_011515788

- Peptide Label:

isoform X3

- Sequence:

show sequence

MQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPAPEPLKLDPATAHPLLELSKGNTVVQCGLLAQRRASQPERFDYSTC
VLASRGFSCGRHYWEVVVGSKSDWRLGVIKGTASRKGKLNRSPEHGVWLIGLKEGRVYEAFACPRVPLPVAGHPHRIGLYLHYEQGELTFFDADRPDDLRPLYTFQADFQGKLYPILDTCWHERGSNS
LPMVLPPPSGPGPLSPEQPTKL

hide sequence

RefSeq Acc Id:	XP_011514089 ⟸ XM_011515787
- Peptide Label:	isoform X2
- UniProtKB:	I3L0H3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAWQVSLPELEDRLQCPICLEVFKEPLMLQCGHSYCKGCLVSLSCHLDAELRCPVCRQAVDGSS SLPNVSLARVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVYSRMKEELAALISELKQEQKKVDELIAKLVNNRTRIVNESDVFSWVIRREFQELHHLVDEEKAR CLEGIGGHTRGLVASLDMQLEQAQGTRERLAQAECVLEQFGNEDHHKFIRKFHSMASRAEMPQARPLEGAFSPISFKPGLHQADIKLTVWKRLFRKVLPGSSPVLAPSRPWG hide sequence

Protein Domains

B box-type B30.2/SPRY RING-type

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q86XT4-F1-model_v2	AlphaFold	Q86XT4	1-487	view protein structure

RGD ID:

7210759

Promoter ID:

EPDNEW_H11124

Type:

initiation region

Name:

TRIM50_1

Description:

tripartite motif containing 50

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,325,574 - 73,325,634	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TRIM50	COSMIC
Ensembl Genes	ENSG00000146755	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000333149	ENTREZGENE
	ENST00000333149.7	UniProtKB/Swiss-Prot
	ENST00000453152	ENTREZGENE
	ENST00000453152.1	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.120.920	UniProtKB/Swiss-Prot
	3.30.40.10	UniProtKB/Swiss-Prot
	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000146755	GTEx
HGNC ID	HGNC:19017	ENTREZGENE
Human Proteome Map	TRIM50	Human Proteome Map
InterPro	B30.2/SPRY	UniProtKB/Swiss-Prot
	B30.2/SPRY_sf	UniProtKB/Swiss-Prot
	Butyrophylin_SPRY	UniProtKB/Swiss-Prot
	ConA-like_dom_sf	UniProtKB/Swiss-Prot
	PRY	UniProtKB/Swiss-Prot
	SPRY_dom	UniProtKB/Swiss-Prot
	TRIM/RBCC	UniProtKB/Swiss-Prot
	Znf-RING_LisH	UniProtKB/Swiss-Prot
	Znf_B-box	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
	Znf_RING_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:135892	UniProtKB/Swiss-Prot
NCBI Gene	TRIM50	ENTREZGENE
OMIM	612548	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE TRIM	UniProtKB/Swiss-Prot
Pfam	PRY	UniProtKB/Swiss-Prot
	SPRY	UniProtKB/Swiss-Prot
	zf-B_box	UniProtKB/Swiss-Prot
	zf-RING_UBOX	UniProtKB/Swiss-Prot
PharmGKB	PA38778	PharmGKB
PRINTS	BUTYPHLNCDUF	UniProtKB/Swiss-Prot
PROSITE	B302_SPRY	UniProtKB/Swiss-Prot
	ZF_BBOX	UniProtKB/Swiss-Prot
	ZF_RING_1	UniProtKB/Swiss-Prot
	ZF_RING_2	UniProtKB/Swiss-Prot
SMART	BBOX	UniProtKB/Swiss-Prot
	PRY	UniProtKB/Swiss-Prot
	RING	UniProtKB/Swiss-Prot
	SPRY	UniProtKB/Swiss-Prot
Superfamily-SCOP	B-box zinc-binding domain	UniProtKB/Swiss-Prot
	RING/U-box	UniProtKB/Swiss-Prot
	SSF49899	UniProtKB/Swiss-Prot
UniProt	B7ZLG2	ENTREZGENE, UniProtKB/TrEMBL
	I3L0H3	ENTREZGENE
	Q2M204	ENTREZGENE
	Q86XT3	ENTREZGENE
	Q86XT4	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q2M204	UniProtKB/Swiss-Prot
	Q86XT3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	TRIM50	tripartite motif containing 50	TRIM50	tripartite motif-containing 50	Symbol and/or name change	5135510	APPROVED

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


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


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

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar