QRICH1 (glutamine rich 1) - Rat Genome Database

Name: QRICH1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: QRICH1 (glutamine rich 1) Homo sapiens

Analyze

Symbol:

QRICH1

Name:

glutamine rich 1

RGD ID:

1606541

HGNC Page

HGNC:24713

Description:

Enables DNA binding activity. Involved in several processes, including PERK-mediated unfolded protein response; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and positive regulation of DNA-templated transcription. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

AB-DIP; FLJ20259; glutamine-rich 1; glutamine-rich protein 1; MGC131838; transcriptional regulator QRICH1; VERBRAS

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):	Qrich1 (glutamine-rich 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Qrich1 (glutamine-rich 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	QRICH1 (glutamine rich 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	QRICH1 (glutamine rich 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Sus scrofa (pig):	QRICH1 (glutamine rich 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	QRICH1 (glutamine rich 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	IMPDH2 (inosine monophosphate dehydrogenase 2)	HGNC	OMA, Panther
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	woc	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	qrich1l	Alliance	DIOPT (Ensembl Compara\|OrthoInspector)
Xenopus tropicalis (tropical clawed frog):	qrich1	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	qrich1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1l.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1l.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	znf160	Alliance	DIOPT (Ensembl Compara\|OrthoInspector)

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	3	49,029,707 - 49,094,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,363 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	49,067,140 - 49,131,806 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	49,023,864 - 49,088,466 (-)	NCBI		Celera
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,125,007 - 49,190,034 (-)	NCBI		HuRef
CHM1_1	3	49,019,703 - 49,084,299 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	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

Aicardi-Goutieres Syndrome 1 (IAGP)

autism spectrum disorder (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy (IAGP)

VERVERI-BRADY SYNDROME (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

aflatoxin B1 (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

chloroprene (ISO)

diazinon (EXP)

enzyme inhibitor (EXP)

ethanol (ISO)

folic acid (ISO)

genistein (EXP)

indole-3-methanol (ISO)

isobutanol (EXP)

ivermectin (EXP)

N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine (EXP)

nocodazole (EXP)

ozone (EXP)

paclitaxel (EXP)

paracetamol (ISO)

silver atom (ISO)

silver(0) (ISO)

trichostatin A (EXP)

triptonide (ISO)

triticonazole (ISO)

tungsten (ISO)

valproic acid (EXP,ISO)

vincaleukoblastine (EXP)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endoplasmic reticulum unfolded protein response (IMP)

integrated stress response signaling (IMP)

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (IMP)

kidney development (ISO)

PERK-mediated unfolded protein response (IMP)

positive regulation of apoptotic process (IMP)

positive regulation of DNA-templated transcription (IMP)

regulation of apoptotic process (IEA)

response to endoplasmic reticulum stress (IMP)

response to unfolded protein (IEA)

Cellular Component

cytoplasm (IEA)

membrane (IEA)

nucleoplasm (IDA)

nucleus (IDA,IEA)

plasma membrane (IEA)

Molecular Function

DNA binding (IMP)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Autosomal dominant inheritance (IAGP)

Broad nasal tip (IAGP)

Bulbous nose (IAGP)

Clinodactyly of the 5th finger (IAGP)

Congenital onset (IAGP)

Cupped ear (IAGP)

Delayed skeletal maturation (IAGP)

Delayed speech and language development (IAGP)

Everted lower lip vermilion (IAGP)

Feeding difficulties (IAGP)

High palate (IAGP)

Hypertelorism (IAGP)

Hyporeflexia (IAGP)

Hypotonia (IAGP)

Intellectual disability (IAGP)

Intellectual disability, mild (IAGP)

Intention tremor (IAGP)

Intrauterine growth retardation (IAGP)

Low-set ears (IAGP)

Macrotia (IAGP)

Metaphyseal irregularity (IAGP)

Microcephaly (IAGP)

Mildly elevated creatine kinase (IAGP)

Motor delay (IAGP)

Prominent nose (IAGP)

Ptosis (IAGP)

Scoliosis (IAGP)

Short stature (IAGP)

Single umbilical artery (IAGP)

Smooth philtrum (IAGP)

Thin upper lip vermilion (IAGP)

Transposition of the great arteries (IAGP)

Unsteady gait (IAGP)

Upslanted palpebral fissure (IAGP)

Wide mouth (IAGP)

Wide nose (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15231748	PMID:15489334	PMID:15923395	PMID:16344560	PMID:16713569	PMID:21873635	PMID:22658674	PMID:22863883	PMID:24453475	PMID:24705354
PMID:25416956	PMID:25609649	PMID:25921289	PMID:26186194	PMID:26949251	PMID:26972000	PMID:27107012	PMID:28514442	PMID:28692176	PMID:29509190	PMID:29656893	PMID:30021884
PMID:30281152	PMID:31073040	PMID:31515488	PMID:31617661	PMID:32296183	PMID:32344865	PMID:32416067	PMID:32694731	PMID:33009816	PMID:33226137	PMID:33384352	PMID:33738978
PMID:33961781	PMID:34687317	PMID:34795231	PMID:34859529	PMID:35013556	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35831314	PMID:35914814	PMID:36215168	PMID:37331002
PMID:37689310	PMID:37704626	PMID:37827155

Genomics

Comparative Map Data

QRICH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,363 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	49,067,140 - 49,131,806 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	49,023,864 - 49,088,466 (-)	NCBI		Celera
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,125,007 - 49,190,034 (-)	NCBI		HuRef
CHM1_1	3	49,019,703 - 49,084,299 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI		T2T-CHM13v2.0

Qrich1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	108,394,010 - 108,437,366 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	108,394,005 - 108,437,362 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	108,516,982 - 108,560,167 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	108,516,806 - 108,560,163 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	108,419,418 - 108,462,498 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	108,375,206 - 108,403,439 (+)	NCBI		MGSCv36	mm8
Celera	9	108,126,784 - 108,171,369 (+)	NCBI		Celera
Cytogenetic Map	9	F2	NCBI
cM Map	9	59.45	NCBI

Qrich1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	118,095,435 - 118,135,001 (+)	NCBI		GRCr8
mRatBN7.2	8	109,216,900 - 109,256,472 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	109,217,376 - 109,261,359 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	114,835,711 - 114,874,722 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	113,035,043 - 113,074,056 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	110,877,683 - 110,916,696 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	117,305,803 - 117,346,738 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	117,307,339 - 117,346,736 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	116,650,497 - 116,691,241 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	113,564,863 - 113,606,732 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	113,595,328 - 113,614,144 (+)	NCBI
Celera	8	108,513,880 - 108,552,244 (+)	NCBI		Celera
Cytogenetic Map	8	q32	NCBI

Qrich1
(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_004955532	1,052,174 - 1,091,449 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955532	1,052,174 - 1,092,211 (-)	NCBI	ChiLan1.0	ChiLan1.0

QRICH1
(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	2	49,008,529 - 49,072,921 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	49,013,297 - 49,077,676 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	48,954,345 - 49,018,745 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	50,035,676 - 50,098,667 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	50,035,676 - 50,097,596 (-)	Ensembl	panpan1.1		panPan2

QRICH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	40,086,141 - 40,135,810 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	40,097,149 - 40,135,140 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	40,004,483 - 40,053,996 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	40,443,202 - 40,492,987 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	40,443,208 - 40,493,037 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	39,810,050 - 39,859,593 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	40,213,555 - 40,263,420 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	40,493,861 - 40,542,932 (+)	NCBI		UU_Cfam_GSD_1.0

Qrich1
(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_024405602	63,993,345 - 64,041,171 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936529	753,844 - 801,861 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936529	753,842 - 802,405 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

QRICH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	31,658,642 - 31,714,455 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	31,663,812 - 31,714,523 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	34,906,818 - 34,956,134 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

QRICH1
(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	22	10,430,015 - 10,496,127 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	10,430,774 - 10,478,690 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	156,585,427 - 156,652,252 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Qrich1
(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 1.0	NW_004624730	3,076,106 - 3,123,002 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in QRICH1
94 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_017730.2(QRICH1):c.1338+4611G>T	single nucleotide variant	Lung cancer [RCV000093590]	Chr3:49052251 [GRCh38] Chr3:49089684 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	copy number gain	See cases [RCV000133650]	Chr3:45879883..50749922 [GRCh38] Chr3:45921375..50787353 [GRCh37] Chr3:45896379..50762357 [NCBI36] Chr3:3p21.31-21.2	pathogenic
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001332178]	Chr3:49057349 [GRCh38] Chr3:49094782 [GRCh37] Chr3:3p21.31	conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	copy number gain	See cases [RCV000143510]	Chr3:48950685..49171381 [GRCh38] Chr3:48988118..49208814 [GRCh37] Chr3:48963122..49183818 [NCBI36] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)	duplication	Intellectual disability [RCV001526610]\|Ververi-Brady syndrome [RCV001799766]	Chr3:49057285..49057286 [GRCh38] Chr3:49094718..49094719 [GRCh37] Chr3:3p21.31	likely pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	copy number gain	See cases [RCV000240519]	Chr3:37028313..49929220 [GRCh37] Chr3:3p22.2-21.31	likely pathogenic
NM_198880.3(QRICH1):c.1414T>G (p.Ser472Ala)	single nucleotide variant	not provided [RCV003239044]	Chr3:49047171 [GRCh38] Chr3:49084604 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1355T>C (p.Val452Ala)	single nucleotide variant	not provided [RCV002284686]	Chr3:49047230 [GRCh38] Chr3:49084663 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1807G>C (p.Val603Leu)	single nucleotide variant	not provided [RCV003327848]	Chr3:49033208 [GRCh38] Chr3:49070641 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.250G>A (p.Val84Ile)	single nucleotide variant	Inborn genetic diseases [RCV003285104]	Chr3:49076768 [GRCh38] Chr3:49114201 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer)	indel	Ververi-Brady syndrome [RCV000627086]	Chr3:49076879..49076880 [GRCh38] Chr3:49114312..49114313 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter)	single nucleotide variant	Intellectual disability [RCV001194662]\|Ververi-Brady syndrome [RCV000627084]\|not provided [RCV002225697]	Chr3:49032715 [GRCh38] Chr3:49070148 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs)	duplication	Ververi-Brady syndrome [RCV000627085]	Chr3:49032715..49032716 [GRCh38] Chr3:49070148..49070149 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV000708566]	Chr3:49047207 [GRCh38] Chr3:49084640 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1585dup (p.Cys529fs)	duplication	Ververi-Brady syndrome [RCV001554342]	Chr3:49046510..49046511 [GRCh38] Chr3:49083943..49083944 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV000761208]\|not provided [RCV001592947]	Chr3:49046490 [GRCh38] Chr3:49083923 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu)	single nucleotide variant	Ververi-Brady syndrome [RCV000987267]	Chr3:49056894 [GRCh38] Chr3:49094327 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)	duplication	Ververi-Brady syndrome [RCV003459146]	Chr3:49057354..49057355 [GRCh38] Chr3:49094787..49094788 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	copy number gain	not provided [RCV000767704]	Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1	pathogenic
NM_198880.3(QRICH1):c.2166C>T (p.Asp722=)	single nucleotide variant	QRICH1-related condition [RCV003970750]\|not provided [RCV000953350]	Chr3:49030617 [GRCh38] Chr3:49068050 [GRCh37] Chr3:3p21.31	benign\|likely benign
NM_198880.3(QRICH1):c.64dup (p.Val22fs)	duplication	Ververi-Brady syndrome [RCV000987269]	Chr3:49076953..49076954 [GRCh38] Chr3:49114386..49114387 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs)	microsatellite	Ververi-Brady syndrome [RCV000987268]	Chr3:49057050..49057053 [GRCh38] Chr3:49094483..49094486 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)	microsatellite	Intellectual disability [RCV001194624]\|Ververi-Brady syndrome [RCV001507075]	Chr3:49057367..49057368 [GRCh38] Chr3:49094800..49094801 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs)	deletion	Intellectual disability, mild [RCV001195178]\|Ververi-Brady syndrome [RCV001507076]	Chr3:49033202..49033203 [GRCh38] Chr3:49070635..49070636 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	copy number loss	not provided [RCV001005432]	Chr3:48346677..49630228 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)	single nucleotide variant	Autism spectrum disorder [RCV003127262]	Chr3:49057472 [GRCh38] Chr3:49094905 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1243A>G (p.Ile415Val)	single nucleotide variant	Inborn genetic diseases [RCV003273310]	Chr3:49056957 [GRCh38] Chr3:49094390 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)	microsatellite	Inborn genetic diseases [RCV002570672]\|Ververi-Brady syndrome [RCV001548773]\|not provided [RCV001546229]	Chr3:49057050..49057051 [GRCh38] Chr3:49094483..49094484 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)	single nucleotide variant	Inborn genetic diseases [RCV003274795]	Chr3:49057800 [GRCh38] Chr3:49095233 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.651dup (p.Ala218fs)	duplication	not provided [RCV001591594]	Chr3:49057548..49057549 [GRCh38] Chr3:49094981..49094982 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1362A>G (p.Glu454=)	single nucleotide variant	not provided [RCV000933386]	Chr3:49047223 [GRCh38] Chr3:49084656 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1148dup (p.Phe384fs)	duplication	not provided [RCV001238449]	Chr3:49057051..49057052 [GRCh38] Chr3:49094484..49094485 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2114T>G (p.Leu705Arg)	single nucleotide variant	not provided [RCV003108263]	Chr3:49032207 [GRCh38] Chr3:49069640 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2139-17A>C	single nucleotide variant	not specified [RCV002470108]	Chr3:49030661 [GRCh38] Chr3:49068094 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV001250985]	Chr3:49030576 [GRCh38] Chr3:49068009 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001262345]	Chr3:49033208 [GRCh38] Chr3:49070641 [GRCh37] Chr3:3p21.31	likely pathogenic\|uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	copy number loss	not provided [RCV001259686]	Chr3:48807193..51363558 [GRCh37] Chr3:3p21.31-21.2	pathogenic
NM_198880.3(QRICH1):c.770C>T (p.Ser257Phe)	single nucleotide variant	Ververi-Brady syndrome [RCV001270763]	Chr3:49057430 [GRCh38] Chr3:49094863 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1265C>T (p.Pro422Leu)	single nucleotide variant	not provided [RCV002280242]	Chr3:49056935 [GRCh38] Chr3:49094368 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001391660]	Chr3:49076950 [GRCh38] Chr3:49114383 [GRCh37] Chr3:3p21.31	likely pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del	deletion	Aicardi-Goutieres syndrome 1 [RCV001380369]	Chr3:48507870..50340407 [GRCh37] Chr3:3p21.31	pathogenic
NM_017730.3:c.2207G>A	single nucleotide variant	Ververi-Brady syndrome [RCV001507074]	Chr3:3p21.31	pathogenic
NM_017730.3:c.1812_1813del	deletion	Ververi-Brady syndrome [RCV001507076]	Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.161T>C (p.Val54Ala)	single nucleotide variant	not provided [RCV001757052]	Chr3:49076857 [GRCh38] Chr3:49114290 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.646G>A (p.Val216Met)	single nucleotide variant	not specified [RCV002246743]	Chr3:49057554 [GRCh38] Chr3:49094987 [GRCh37] Chr3:3p21.31	benign
NM_198880.3(QRICH1):c.955C>T (p.Arg319Trp)	single nucleotide variant	not provided [RCV001763334]	Chr3:49057245 [GRCh38] Chr3:49094678 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.443C>A (p.Ala148Asp)	single nucleotide variant	not provided [RCV001773009]	Chr3:49057757 [GRCh38] Chr3:49095190 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.199A>G (p.Thr67Ala)	single nucleotide variant	not provided [RCV001763829]	Chr3:49076819 [GRCh38] Chr3:49114252 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.310-2A>C	single nucleotide variant	Ververi-Brady syndrome [RCV001800218]	Chr3:49057892 [GRCh38] Chr3:49095325 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile)	single nucleotide variant	Ververi-Brady syndrome [RCV001800220]	Chr3:49057444 [GRCh38] Chr3:49094877 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp)	single nucleotide variant	Ververi-Brady syndrome [RCV001800224]	Chr3:49057020 [GRCh38] Chr3:49094453 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1626del (p.Tyr543fs)	deletion	Ververi-Brady syndrome [RCV001800231]	Chr3:49046470 [GRCh38] Chr3:49083903 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys)	single nucleotide variant	Ververi-Brady syndrome [RCV001800232]\|not provided [RCV002469412]	Chr3:49046447 [GRCh38] Chr3:49083880 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.136del (p.Gln46fs)	deletion	Ververi-Brady syndrome [RCV001800217]\|not provided [RCV003223727]	Chr3:49076882 [GRCh38] Chr3:49114315 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.541C>T (p.Gln181Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800219]	Chr3:49057659 [GRCh38] Chr3:49095092 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800229]\|not provided [RCV003235598]	Chr3:49046565 [GRCh38] Chr3:49083998 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800221]	Chr3:49057377 [GRCh38] Chr3:49094810 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800225]	Chr3:49056942 [GRCh38] Chr3:49094375 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg)	single nucleotide variant	Ververi-Brady syndrome [RCV001800230]	Chr3:49046517 [GRCh38] Chr3:49083950 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1655del (p.Phe552fs)	deletion	Ververi-Brady syndrome [RCV001800233]	Chr3:49046441 [GRCh38] Chr3:49083874 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1787-2A>G	single nucleotide variant	Ververi-Brady syndrome [RCV001800235]\|not provided [RCV003319479]	Chr3:49033230 [GRCh38] Chr3:49070663 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001800237]	Chr3:49033131 [GRCh38] Chr3:49070564 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800239]	Chr3:49030567 [GRCh38] Chr3:49068000 [GRCh37] Chr3:3p21.31	pathogenic\|conflicting interpretations of pathogenicity
NM_198880.3(QRICH1):c.1291A>G (p.Thr431Ala)	single nucleotide variant	not provided [RCV001760780]	Chr3:49056909 [GRCh38] Chr3:49094342 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.961del (p.Asp321fs)	deletion	Ververi-Brady syndrome [RCV001800222]\|not provided [RCV003328682]	Chr3:49057239 [GRCh38] Chr3:49094672 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_198880.3(QRICH1):c.985del (p.His329fs)	deletion	Ververi-Brady syndrome [RCV001800223]	Chr3:49057215 [GRCh38] Chr3:49094648 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1896-2A>G	single nucleotide variant	Ververi-Brady syndrome [RCV001800238]	Chr3:49032775 [GRCh38] Chr3:49070208 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs)	duplication	Inborn genetic diseases [RCV002541337]\|Ververi-Brady syndrome [RCV001800226]	Chr3:49056907..49056908 [GRCh38] Chr3:49094340..49094341 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp)	single nucleotide variant	Ververi-Brady syndrome [RCV001800234]	Chr3:49044456 [GRCh38] Chr3:49081889 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.46C>T (p.Arg16Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800216]	Chr3:49076972 [GRCh38] Chr3:49114405 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1304A>G (p.Gln435Arg)	single nucleotide variant	Ververi-Brady syndrome [RCV001800227]\|not provided [RCV002276899]	Chr3:49056896 [GRCh38] Chr3:49094329 [GRCh37] Chr3:3p21.31	likely pathogenic\|uncertain significance
NM_198880.3(QRICH1):c.1578T>C (p.Tyr526=)	single nucleotide variant	not provided [RCV001815922]	Chr3:49046518 [GRCh38] Chr3:49083951 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)	single nucleotide variant	Ververi-Brady syndrome [RCV001843861]	Chr3:49030569 [GRCh38] Chr3:49068002 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31(chr3:49060512-49678685)	copy number gain	not specified [RCV002053349]	Chr3:49060512..49678685 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1998G>A (p.Thr666=)	single nucleotide variant	not provided [RCV002214289]	Chr3:49032671 [GRCh38] Chr3:49070104 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1786+1G>A	single nucleotide variant	Ververi-Brady syndrome [RCV002221890]	Chr3:49044389 [GRCh38] Chr3:49081822 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)	single nucleotide variant	not provided [RCV002221942]		uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup	duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297]	Chr3:45435946..49137751 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)	single nucleotide variant	not specified [RCV003123503]	Chr3:49047144 [GRCh38] Chr3:49084577 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV003148449]	Chr3:49057313 [GRCh38] Chr3:49094746 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	copy number loss	not provided [RCV002279744]	Chr3:44948482..49115809 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV002266607]	Chr3:49044465 [GRCh38] Chr3:49081898 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.418del (p.Gln140fs)	deletion	Ververi-Brady syndrome [RCV002277749]	Chr3:49057782 [GRCh38] Chr3:49095215 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2266C>T (p.Arg756Trp)	single nucleotide variant	Inborn genetic diseases [RCV003164415]\|not provided [RCV002281278]	Chr3:49030517 [GRCh38] Chr3:49067950 [GRCh37] Chr3:3p21.31	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_198880.3(QRICH1):c.2257A>G (p.Met753Val)	single nucleotide variant	not provided [RCV002269560]	Chr3:49030526 [GRCh38] Chr3:49067959 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2005C>T (p.Arg669Trp)	single nucleotide variant	not provided [RCV002285574]	Chr3:49032664 [GRCh38] Chr3:49070097 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2080A>G (p.Asn694Asp)	single nucleotide variant	not provided [RCV002269618]	Chr3:49032241 [GRCh38] Chr3:49069674 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.476C>A (p.Pro159His)	single nucleotide variant	Ververi-Brady syndrome [RCV003130378]	Chr3:49057724 [GRCh38] Chr3:49095157 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)	single nucleotide variant	Ververi-Brady syndrome [RCV002470543]	Chr3:49056955 [GRCh38] Chr3:49094388 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)	deletion	Ververi-Brady syndrome [RCV003233405]	Chr3:49030502..49030503 [GRCh38] Chr3:49067935..49067936 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.114G>T (p.Gly38=)	single nucleotide variant	not provided [RCV002512227]	Chr3:49076904 [GRCh38] Chr3:49114337 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.519C>A (p.His173Gln)	single nucleotide variant	Inborn genetic diseases [RCV002689956]	Chr3:49057681 [GRCh38] Chr3:49095114 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.486dup (p.Gln163fs)	duplication	not provided [RCV002880305]	Chr3:49057713..49057714 [GRCh38] Chr3:49095146..49095147 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.259C>T (p.Gln87Ter)	single nucleotide variant	Inborn genetic diseases [RCV002661581]	Chr3:49076759 [GRCh38] Chr3:49114192 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met)	single nucleotide variant	Inborn genetic diseases [RCV002951232]	Chr3:49056986 [GRCh38] Chr3:49094419 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1315C>T (p.Gln439Ter)	single nucleotide variant	not provided [RCV002828871]	Chr3:49056885 [GRCh38] Chr3:49094318 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.190A>G (p.Thr64Ala)	single nucleotide variant	Inborn genetic diseases [RCV002812475]	Chr3:49076828 [GRCh38] Chr3:49114261 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.41A>G (p.Tyr14Cys)	single nucleotide variant	Inborn genetic diseases [RCV002668779]	Chr3:49076977 [GRCh38] Chr3:49114410 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2248A>G (p.Met750Val)	single nucleotide variant	Inborn genetic diseases [RCV002988161]	Chr3:49030535 [GRCh38] Chr3:49067968 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.456G>C (p.Gln152His)	single nucleotide variant	Inborn genetic diseases [RCV002807432]	Chr3:49057744 [GRCh38] Chr3:49095177 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.325C>T (p.Gln109Ter)	single nucleotide variant	Inborn genetic diseases [RCV002965254]	Chr3:49057875 [GRCh38] Chr3:49095308 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.59G>A (p.Arg20Gln)	single nucleotide variant	Inborn genetic diseases [RCV002718724]	Chr3:49076959 [GRCh38] Chr3:49114392 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.186A>G (p.Ile62Met)	single nucleotide variant	not provided [RCV003156641]	Chr3:49076832 [GRCh38] Chr3:49114265 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV003133745]	Chr3:49076726 [GRCh38] Chr3:49114159 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.598G>A (p.Val200Met)	single nucleotide variant	Ververi-Brady syndrome [RCV003227099]	Chr3:49057602 [GRCh38] Chr3:49095035 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)	single nucleotide variant	Ververi-Brady syndrome [RCV003135194]	Chr3:49032688 [GRCh38] Chr3:49070121 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)	single nucleotide variant	Ververi-Brady syndrome [RCV003135195]	Chr3:49057499 [GRCh38] Chr3:49094932 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1965GAA[1] (p.Lys656del)	microsatellite	not provided [RCV003321140]	Chr3:49032699..49032701 [GRCh38] Chr3:49070132..49070134 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)	single nucleotide variant	Inborn genetic diseases [RCV003356943]	Chr3:49033187 [GRCh38] Chr3:49070620 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.455A>C (p.Gln152Pro)	single nucleotide variant	Inborn genetic diseases [RCV003356740]	Chr3:49057745 [GRCh38] Chr3:49095178 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.623G>A (p.Gly208Asp)	single nucleotide variant	not provided [RCV003332680]	Chr3:49057577 [GRCh38] Chr3:49095010 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.697G>C (p.Glu233Gln)	single nucleotide variant	QRICH1-related condition [RCV003394448]	Chr3:49057503 [GRCh38] Chr3:49094936 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1234A>T (p.Thr412Ser)	single nucleotide variant	Inborn genetic diseases [RCV003369903]	Chr3:49056966 [GRCh38] Chr3:49094399 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2264C>T (p.Thr755Met)	single nucleotide variant	Inborn genetic diseases [RCV003363224]	Chr3:49030519 [GRCh38] Chr3:49067952 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.60G>A (p.Arg20=)	single nucleotide variant	not provided [RCV003433590]	Chr3:49076958 [GRCh38] Chr3:49114391 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2229G>C (p.Gln743His)	single nucleotide variant	QRICH1-related condition [RCV003404235]	Chr3:49030554 [GRCh38] Chr3:49067987 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1964A>G (p.Lys655Arg)	single nucleotide variant	not provided [RCV003437838]	Chr3:49032705 [GRCh38] Chr3:49070138 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.743G>A (p.Arg248His)	single nucleotide variant	QRICH1-related condition [RCV003404644]	Chr3:49057457 [GRCh38] Chr3:49094890 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1479A>G (p.Leu493=)	single nucleotide variant	not provided [RCV003433588]	Chr3:49047106 [GRCh38] Chr3:49084539 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2066C>G (p.Ala689Gly)	single nucleotide variant	not provided [RCV003457111]	Chr3:49032255 [GRCh38] Chr3:49069688 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.157A>G (p.Met53Val)	single nucleotide variant	not provided [RCV003433589]	Chr3:49076861 [GRCh38] Chr3:49114294 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.608A>G (p.Gln203Arg)	single nucleotide variant	not provided [RCV003443774]	Chr3:49057592 [GRCh38] Chr3:49095025 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2076G>A (p.Thr692=)	single nucleotide variant	not provided [RCV003437837]	Chr3:49032245 [GRCh38] Chr3:49069678 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.336G>T (p.Pro112=)	single nucleotide variant	not provided [RCV003437840]	Chr3:49057864 [GRCh38] Chr3:49095297 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1517-8C>T	single nucleotide variant	QRICH1-related condition [RCV003929128]\|not provided [RCV003437839]	Chr3:49046587 [GRCh38] Chr3:49084020 [GRCh37] Chr3:3p21.31	benign\|likely benign
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)	deletion	Ververi-Brady syndrome [RCV003388853]	Chr3:49056966 [GRCh38] Chr3:49094399 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.556C>A (p.Pro186Thr)	single nucleotide variant	not provided [RCV003442698]	Chr3:49057644 [GRCh38] Chr3:49095077 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)	single nucleotide variant	Ververi-Brady syndrome [RCV003594711]	Chr3:49030624 [GRCh38] Chr3:49068057 [GRCh37] Chr3:3p21.31	likely pathogenic
GRCh37/hg19 3p21.31(chr3:49112665-49175315)x1	copy number loss	not specified [RCV003986428]	Chr3:49112665..49175315 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.427G>A (p.Ala143Thr)	single nucleotide variant	QRICH1-related condition [RCV003934775]	Chr3:49057773 [GRCh38] Chr3:49095206 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2265G>A (p.Thr755=)	single nucleotide variant	QRICH1-related condition [RCV003932235]	Chr3:49030518 [GRCh38] Chr3:49067951 [GRCh37] Chr3:3p21.31	benign
NM_198880.3(QRICH1):c.729A>G (p.Gln243=)	single nucleotide variant	QRICH1-related condition [RCV003951723]	Chr3:49057471 [GRCh38] Chr3:49094904 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.372C>T (p.Thr124=)	single nucleotide variant	QRICH1-related condition [RCV003944375]	Chr3:49057828 [GRCh38] Chr3:49095261 [GRCh37] Chr3:3p21.31	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2288
Count of miRNA genes:	865
Interacting mature miRNAs:	1031
Transcripts:	ENST00000357496, ENST00000395443, ENST00000411682, ENST00000424300, ENST00000430979, ENST00000437939, ENST00000450685, ENST00000469910, ENST00000477021, ENST00000479449, ENST00000489642, ENST00000498392, ENST00000498440
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

RH80406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,114,054 - 49,114,292	UniSTS	GRCh37
Build 36	3	49,089,058 - 49,089,296	RGD	NCBI36
Celera	3	49,070,813 - 49,071,051	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,171,537 - 49,171,775	UniSTS

RH93145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,124,161 - 49,124,329	UniSTS	GRCh37
Build 36	3	49,099,165 - 49,099,333	RGD	NCBI36
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,181,642 - 49,181,810	UniSTS
GeneMap99-GB4 RH Map	3	157.44	UniSTS

RH122928

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,130,138 - 49,130,437	UniSTS	GRCh37
Build 36	3	49,105,142 - 49,105,441	RGD	NCBI36
Celera	3	49,087,100 - 49,087,399	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,188,668 - 49,188,967	UniSTS
TNG Radiation Hybrid Map	3	30995.0	UniSTS

D3S2759E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,067,892 - 49,067,972	UniSTS	GRCh37
Build 36	3	49,042,896 - 49,042,976	RGD	NCBI36
Celera	3	49,024,614 - 49,024,694	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,125,757 - 49,125,837	UniSTS

D3S4029

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,099,366 - 49,099,490	UniSTS	GRCh37
Build 36	3	49,074,370 - 49,074,494	RGD	NCBI36
Celera	3	49,056,074 - 49,056,198	RGD
HuRef	3	49,156,897 - 49,157,021	UniSTS

G16539

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,105,879 - 49,106,100	UniSTS	GRCh37
GRCh37	6	140,563,329 - 140,563,382	UniSTS	GRCh37
Build 36	3	49,080,883 - 49,081,104	RGD	NCBI36
Celera	6	141,304,198 - 141,304,251	RGD
HuRef	3	49,163,407 - 49,163,629	UniSTS
HuRef	6	138,126,593 - 138,126,646	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

2430

2626

1661

563

1765

405

4353

2051

3125

392

1444

1605

171

1204

2786

Low

364

186

146

607

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001320580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_198880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC135506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC137630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW673597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI459089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA238657	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA241522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA388875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY006215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000357496 ⟹ ENSP00000350094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,932 - 49,094,062 (-)	Ensembl

RefSeq Acc Id:

ENST00000395443 ⟹ ENSP00000378830

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000411682 ⟹ ENSP00000412870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,265 - 49,094,363 (-)	Ensembl

RefSeq Acc Id:

ENST00000424300 ⟹ ENSP00000412890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,212 - 49,093,611 (-)	Ensembl

RefSeq Acc Id:

ENST00000430979 ⟹ ENSP00000405505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,076,873 - 49,094,051 (-)	Ensembl

RefSeq Acc Id:

ENST00000437939 ⟹ ENSP00000416133

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,076,707 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000450685 ⟹ ENSP00000413051

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,045,942 - 49,094,348 (-)	Ensembl

RefSeq Acc Id:

ENST00000469910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,032,619 - 49,033,168 (-)	Ensembl

RefSeq Acc Id:

ENST00000477021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,032,183 - 49,033,201 (-)	Ensembl

RefSeq Acc Id:

ENST00000479449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,033,083 - 49,057,875 (-)	Ensembl

RefSeq Acc Id:

ENST00000489642

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,375 - 49,044,442 (-)	Ensembl

RefSeq Acc Id:

ENST00000498392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,931 - 49,033,830 (-)	Ensembl

RefSeq Acc Id:

ENST00000498440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,033,047 - 49,046,458 (-)	Ensembl

RefSeq Acc Id:

ENST00000703871 ⟹ ENSP00000515516

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,788 - 49,093,620 (-)	Ensembl

RefSeq Acc Id:

ENST00000703872 ⟹ ENSP00000515517

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,909 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000703873 ⟹ ENSP00000515518

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,160 - 49,094,062 (-)	Ensembl

RefSeq Acc Id:

ENST00000703938 ⟹ ENSP00000515569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,839 - 49,093,976 (-)	Ensembl

RefSeq Acc Id:

ENST00000703939 ⟹ ENSP00000515570

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,896 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000703940 ⟹ ENSP00000515571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,903 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000703941 ⟹ ENSP00000515572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,992 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

ENST00000703942 ⟹ ENSP00000515573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,107 - 49,093,608 (-)	Ensembl

RefSeq Acc Id:

ENST00000703943 ⟹ ENSP00000515574

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,392 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

NM_001320580 ⟹ NP_001307509

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAAATATTAGAAGTCTTAAGAACTCAGGAC
AAGCAGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGACTCTGCAATATGAATAATTC
CCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACAC
AGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGC
AGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGA
AGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAG
CAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGT
CTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACC
CATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACC
CCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGC
AAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCA
GGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGT
GCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGG
CCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCAT
CTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCT
TTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTA
GCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCA
GCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCA
CCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTG
TAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTT
CATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACG
GCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGA
CACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGT
TGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTG
AAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGA
AGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCT
CATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAAT
GGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATC
TTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTG
GCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGC
CACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGC
TGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAA
GCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGC
ACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACA
TGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTT
CTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAG
CCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGG
GACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGC
AAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACA
GACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGA
AGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAA
ACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTA
GAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAA
ATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCT
CCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTT
TCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATG
ATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGT
AAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCT
CCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTC
TCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320581 ⟹ NP_001307510

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGTACGGTGCGGGTGCTTGGAATATTAGA
AGTCTTAAGAACTCAGGACAAGCAGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGAC
TCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGC
ACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAA
GCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCA
TATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAG
TGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTC
CAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTC
ACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGC
AGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAG
ATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACA
TCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGAT
CCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGG
GAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCA
TCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCA
GCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGT
GCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGC
CCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGC
AGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAG
ATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACT
CTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGC
AGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAG
CAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTT
CAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACT
TCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACC
AAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGC
TGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAAT
GACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTC
CTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATT
ATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACT
TGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCT
CACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGA
CAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTC
TAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGC
CAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTC
CCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACAC
CTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCT
ATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGG
CCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACC
AGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTT
TTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGC
CCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCC
TTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGG
GCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGA
TGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGG
GGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAAT
GAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTG
ACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGA
GGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATAT
AAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCAC
GTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320582 ⟹ NP_001307511

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGTACGGTGCGGGTGCTTGGGAACCCTAA
GGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAA
AGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCC
AGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAAC
TGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCA
CCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCA
GGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACC
GTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGT
CAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGC
TCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAG
CACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGC
AGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGA
AGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATG
CCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGG
GCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTA
CAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCC
CAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACA
ACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGA
GAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCA
AACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTG
TGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCA
GCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACT
TGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAG
AACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCA
GACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAA
CTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTC
TAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATAT
TTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTT
TATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTC
CACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGG
GGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTG
AAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACC
CCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGAC
TGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGA
TGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATG
ACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCA
GCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAG
GAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGA
AACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCT
TTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACT
TTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGT
TTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGA
AAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGA
TGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCA
CAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAA
AAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACA
AGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACA
TTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATC
ATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAA
GCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320583 ⟹ NP_001307512

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGAACCCTAAGGACTCTGCAATATGAATA
ATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCA
ACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTC
CAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCA
CTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAAC
CCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAG
CAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGC
AACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCA
GACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCAC
GTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAA
TCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGT
GGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGC
ACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACG
CCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGT
GTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATT
ACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTC
AGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGG
CTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACA
TCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCAC
AGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAA
TACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAA
CAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCC
AGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTC
TTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTA
GAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAG
ATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCG
AAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAG
TATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGG
AGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCC
CAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACC
TTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACA
TGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAA
AAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGAT
GACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATG
ATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACC
TGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAG
ATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCA
ATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCA
GACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTT
ACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTC
ATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGT
CCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAA
AGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGA
ATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTT
TCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAAT
TATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAA
AAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGA
GGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTG
TTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320584 ⟹ NP_001307513

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI

Sequence:

show sequence

GTGCTCGACCAAAGGAGGCTCTGGCGGGCGACGGAAGGAACCCTAAGGACTCTGCAATATGAAT
AATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGC
AACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTT
CCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGC
ACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAA
CCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACA
GCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAG
CAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTC
AGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCA
CGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAA
ATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCG
TGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGG
CACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTAC
GCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATG
TGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCAT
TACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCT
CAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTG
GCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCAC
ATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCA
CAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGA
ATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGA
ACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTC
CAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATT
CTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACT
AGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAA
GATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTC
GAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAA
GTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACG
GAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGC
CCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCAC
CTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCAC
ATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATA
AAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGA
TGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTAT
GATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACAC
CTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCA
GATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCC
AATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACC
AGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGT
TACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTT
CATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATG
TCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAA
AAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGG
AATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTT
TTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAA
TTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTA
AAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTG
AGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCT
GTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACAAA
AAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001320585 ⟹ NP_001307514

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI

Sequence:

show sequence

GTGCTCGACCAAAGGAGGCTCTGGCGGGCGACGGAAGGTGGGTCCAAAGAGCTAGCTTGGAGCC
CTAGCCTTCCGAGACTCCACTACTAGGCCAAGCCACGGCCCTAGCTCCGCCCCACATGGAGAGG
CGTCCATGGGCGGAGCGAGCCGCTCCATACCCTAGGATCCACTATCCGCTCTAGCGGCCAGAAG
CGCGGCCACCTTCCCCTGCTGAAGCGTTCACTTTAATTTTGGCCGGAACCCTAAGGACTCTGCA
ATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTC
TGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTT
CAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACA
CAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCA
GCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTG
CAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGC
CTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCC
CTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAG
GTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCAC
ATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAAT
CCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGG
CGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTG
TGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCA
GAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACT
GGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGG
GGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCA
CGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTG
GGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCT
TTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCAC
GTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACT
CCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTC
AAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCT
TCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAAT
GCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGAT
TCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACG
GGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGT
ATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTC
GGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTA
TGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCC
CCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGG
ACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCC
CAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAA
GTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCA
AGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTA
CCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGC
AGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCG
CAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAG
GAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATT
GGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTT
TGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGT
GTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGG
ACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACC
CTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACG
ATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGG
AACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTT
TAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTT
AAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGAT
ACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTT
TCAACAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_017730 ⟹ NP_060200

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI
GRCh37	3	49,067,140 - 49,131,504 (-)	NCBI
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI Archive
Celera	3	49,023,864 - 49,088,466 (-)	RGD
HuRef	3	49,125,007 - 49,190,034 (-)	ENTREZGENE
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,139 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGT
CTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGA
GGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGAATATTAGAAGTCTTAAGAACTCAGGACAAGC
AGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTA
GAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGA
TGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGAC
AGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTG
GCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAG
AACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCC
GCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATC
CAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGT
CTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGC
AGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCT
CAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCC
TTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAG
TGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCA
GGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGA
GGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCC
TACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAG
AGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCA
CAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGT
GAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATG
AATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTC
AAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACC
ACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCT
GAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGC
CAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGA
TGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATC
TCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAG
AAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTT
TGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTA
CATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACG
TGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGAC
CACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTG
GCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGA
GTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTA
TGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTAC
CTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAG
TGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACA
AATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGC
ACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACT
TTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCC
TTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCT
GCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAA
GTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGT
GGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCC
AGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTT
CATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTT
ATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAA
ACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTG
TGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTT
ATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_198880 ⟹ NP_942581

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI
GRCh37	3	49,067,140 - 49,131,504 (-)	NCBI
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI Archive
Celera	3	49,023,864 - 49,088,466 (-)	RGD
HuRef	3	49,125,007 - 49,190,034 (-)	ENTREZGENE
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,139 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGT
CTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGA
GGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGGAACCCTAAGGACTCTGCAATATGAATAATTC
CCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACAC
AGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGC
AGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGA
AGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAG
CAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGT
CTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACC
CATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACC
CCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGC
AAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCA
GGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGT
GCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGG
CCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCAT
CTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCT
TTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTA
GCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCA
GCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCA
CCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTG
TAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTT
CATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACG
GCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGA
CACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGT
TGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTG
AAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGA
AGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCT
CATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAAT
GGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATC
TTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTG
GCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGC
CACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGC
TGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAA
GCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGC
ACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACA
TGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTT
CTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAG
CCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGG
GACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGC
AAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACA
GACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGA
AGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAA
ACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTA
GAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAA
ATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCT
CCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTT
TCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATG
ATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGT
AAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCT
CCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTC
TCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

XM_011533863 ⟹ XP_011532165

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGT
CTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGA
GGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGGTGAGGGCTCCAGTGCGGGAACCCTAAGGACT
CTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCA
CGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAG
CCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCAT
ATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGT
GTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCC
AGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCA
CCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCA
GCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGA
TCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACAT
CCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATC
CAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGG
AGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCAT
CACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAG
CAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTG
CCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCC
CCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCA
GTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGA
TGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTC
TCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCA
GGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGC
AAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTC
AGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTT
CTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCA
AGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCT
GCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATG
ACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCC
TGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTA
TGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTT
GGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTC
ACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGAC
AGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCT
AATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCC
AGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCC
CATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACC
TTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTA
TCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGC
CATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCA
GCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTT
TTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCC
CCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCT
TGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGG
CTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGAT
GGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGG
GAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATG
AGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGA
CATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAG
GCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATA
AAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACG
TCTTTTCAACA

hide sequence

RefSeq Acc Id:

XM_047448399 ⟹ XP_047304355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI

RefSeq Acc Id:

XM_054347004 ⟹ XP_054202979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	49,057,747 - 49,122,341 (-)	NCBI

RefSeq Acc Id:

XM_054347005 ⟹ XP_054202980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	49,057,747 - 49,121,672 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001307509	(Get FASTA)	NCBI Sequence Viewer
	NP_001307510	(Get FASTA)	NCBI Sequence Viewer
	NP_001307511	(Get FASTA)	NCBI Sequence Viewer
	NP_001307512	(Get FASTA)	NCBI Sequence Viewer
	NP_001307513	(Get FASTA)	NCBI Sequence Viewer
	NP_001307514	(Get FASTA)	NCBI Sequence Viewer
	NP_060200	(Get FASTA)	NCBI Sequence Viewer
	NP_942581	(Get FASTA)	NCBI Sequence Viewer
	XP_011532165	(Get FASTA)	NCBI Sequence Viewer
	XP_047304355	(Get FASTA)	NCBI Sequence Viewer
	XP_054202979	(Get FASTA)	NCBI Sequence Viewer
	XP_054202980	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH00978	(Get FASTA)	NCBI Sequence Viewer
	AAH98375	(Get FASTA)	NCBI Sequence Viewer
	AAI10856	(Get FASTA)	NCBI Sequence Viewer
	AAI30341	(Get FASTA)	NCBI Sequence Viewer
	AAI30343	(Get FASTA)	NCBI Sequence Viewer
	BAA91042	(Get FASTA)	NCBI Sequence Viewer
	BAB14076	(Get FASTA)	NCBI Sequence Viewer
	BAB85047	(Get FASTA)	NCBI Sequence Viewer
	BAF85225	(Get FASTA)	NCBI Sequence Viewer
	CCQ43565	(Get FASTA)	NCBI Sequence Viewer
	EAW64948	(Get FASTA)	NCBI Sequence Viewer
	EAW64949	(Get FASTA)	NCBI Sequence Viewer
	EAW64950	(Get FASTA)	NCBI Sequence Viewer
	EAW64951	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350094
	ENSP00000350094.2
	ENSP00000378830
	ENSP00000378830.2
	ENSP00000405505.1
	ENSP00000412870
	ENSP00000412870.2
	ENSP00000412890
	ENSP00000412890.1
	ENSP00000416133.1
	ENSP00000515516
	ENSP00000515516.1
	ENSP00000515517.1
	ENSP00000515518.1
	ENSP00000515569.1
	ENSP00000515570.1
	ENSP00000515571.1
	ENSP00000515572.1
	ENSP00000515573
	ENSP00000515573.1
	ENSP00000515574.1
GenBank Protein	Q2TAL8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060200 ⟸ NM_017730

- UniProtKB:

Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), A1L3Z9 (UniProtKB/TrEMBL), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_942581 ⟸ NM_198880

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:	XP_011532165 ⟸ XM_011533863
- Peptide Label:	isoform X1
- UniProtKB:	Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), A1L3Z9 (UniProtKB/TrEMBL), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA VANASTMH hide sequence

RefSeq Acc Id:

NP_001307513 ⟸ NM_001320584

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_001307514 ⟸ NM_001320585

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_001307512 ⟸ NM_001320583

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_001307509 ⟸ NM_001320580

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_001307511 ⟸ NM_001320582

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_001307510 ⟸ NM_001320581

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

ENSP00000416133 ⟸ ENST00000437939

RefSeq Acc Id:

ENSP00000412890 ⟸ ENST00000424300

RefSeq Acc Id:

ENSP00000413051 ⟸ ENST00000450685

RefSeq Acc Id:

ENSP00000412870 ⟸ ENST00000411682

RefSeq Acc Id:

ENSP00000405505 ⟸ ENST00000430979

RefSeq Acc Id:

ENSP00000378830 ⟸ ENST00000395443

RefSeq Acc Id:

ENSP00000350094 ⟸ ENST00000357496

RefSeq Acc Id:	XP_047304355 ⟸ XM_047448399
- Peptide Label:	isoform X1
- UniProtKB:	Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A1L3Z9 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000515518 ⟸ ENST00000703873

RefSeq Acc Id:

ENSP00000515517 ⟸ ENST00000703872

RefSeq Acc Id:

ENSP00000515571 ⟸ ENST00000703940

RefSeq Acc Id:

ENSP00000515569 ⟸ ENST00000703938

RefSeq Acc Id:

ENSP00000515574 ⟸ ENST00000703943

RefSeq Acc Id:

ENSP00000515570 ⟸ ENST00000703939

RefSeq Acc Id:

ENSP00000515572 ⟸ ENST00000703941

RefSeq Acc Id:

ENSP00000515516 ⟸ ENST00000703871

RefSeq Acc Id:

ENSP00000515573 ⟸ ENST00000703942

RefSeq Acc Id:	XP_054202979 ⟸ XM_054347004
- Peptide Label:	isoform X1
- UniProtKB:	Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A1L3Z9 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054202980 ⟸ XM_054347005
- Peptide Label:	isoform X1
- UniProtKB:	Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A1L3Z9 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)

Protein Domains

CARD DUF3504

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q2TAL8-F1-model_v2	AlphaFold	Q2TAL8	1-776	view protein structure

Promoters

RGD ID:

6801495

Promoter ID:

HG_KWN:44986

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000345670, OTTHUMT00000345676, OTTHUMT00000345677

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,044,771 - 49,045,271 (-)	MPROMDB

RGD ID:

6801497

Promoter ID:

HG_KWN:44989

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

OTTHUMT00000345678

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,069,789 - 49,070,289 (-)	MPROMDB

RGD ID:

6864374

Promoter ID:

EPDNEW_H5352

Type:

initiation region

Name:

QRICH1_1

Description:

glutamine rich 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5353

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,094,071 - 49,094,131	EPDNEW

RGD ID:

6864376

Promoter ID:

EPDNEW_H5353

Type:

initiation region

Name:

QRICH1_2

Description:

glutamine rich 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5352

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,094,363 - 49,094,423	EPDNEW

RGD ID:

6801496

Promoter ID:

HG_KWN:44992

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:

NM_017730, OTTHUMT00000345669, OTTHUMT00000345674, OTTHUMT00000345679, OTTHUMT00000345680, OTTHUMT00000345681, OTTHUMT00000345682, UC010HKQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,105,516 - 49,107,047 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24713	AgrOrtholog
COSMIC	QRICH1	COSMIC
Ensembl Genes	ENSG00000198218	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000357496	ENTREZGENE
	ENST00000357496.6	UniProtKB/Swiss-Prot
	ENST00000395443	ENTREZGENE
	ENST00000395443.7	UniProtKB/Swiss-Prot
	ENST00000411682	ENTREZGENE
	ENST00000411682.2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000424300	ENTREZGENE
	ENST00000424300.5	UniProtKB/Swiss-Prot
	ENST00000430979.1	UniProtKB/TrEMBL
	ENST00000437939.5	UniProtKB/TrEMBL
	ENST00000703871	ENTREZGENE
	ENST00000703871.1	UniProtKB/Swiss-Prot
	ENST00000703872.1	UniProtKB/TrEMBL
	ENST00000703873.1	UniProtKB/TrEMBL
	ENST00000703938.1	UniProtKB/TrEMBL
	ENST00000703939.1	UniProtKB/TrEMBL
	ENST00000703940.1	UniProtKB/TrEMBL
	ENST00000703941.1	UniProtKB/TrEMBL
	ENST00000703942	ENTREZGENE
	ENST00000703942.1	UniProtKB/Swiss-Prot
	ENST00000703943.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.533.10	UniProtKB/TrEMBL
GTEx	ENSG00000198218	GTEx
HGNC ID	HGNC:24713	ENTREZGENE
Human Proteome Map	QRICH1	Human Proteome Map
InterPro	CARD	UniProtKB/TrEMBL
	DEATH-like_dom	UniProtKB/TrEMBL
	DUF3504	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54870	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	54870	ENTREZGENE
OMIM	617387	OMIM
PANTHER	TRANSCRIPTIONAL REGULATOR QRICH1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC FINGER MYM-TYPE PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF3504	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142671106	PharmGKB
PRINTS	F138DOMAIN	UniProtKB/TrEMBL
PROSITE	CARD	UniProtKB/TrEMBL
Superfamily-SCOP	beta-sandwich domain of Sec23/24	UniProtKB/TrEMBL
	SSF47986	UniProtKB/TrEMBL
UniProt	A0A024R2T7	ENTREZGENE
	A0A994J424_HUMAN	UniProtKB/TrEMBL
	A0A994J457_HUMAN	UniProtKB/TrEMBL
	A0A994J492_HUMAN	UniProtKB/TrEMBL
	A0A994J4K3_HUMAN	UniProtKB/TrEMBL
	A0A994J4P1_HUMAN	UniProtKB/TrEMBL
	A0A994J6Q4	ENTREZGENE, UniProtKB/TrEMBL
	A0A994J751_HUMAN	UniProtKB/TrEMBL
	A1L3Z7	ENTREZGENE
	A1L3Z9	ENTREZGENE, UniProtKB/TrEMBL
	C9JAL2_HUMAN	UniProtKB/TrEMBL
	C9JIA8_HUMAN	UniProtKB/TrEMBL
	L8E8D2_HUMAN	UniProtKB/TrEMBL
	Q2TAL8	ENTREZGENE
	Q4G0F7	ENTREZGENE
	Q7L621	ENTREZGENE
	Q8TEA5	ENTREZGENE
	QRIC1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A0A024R2T7	UniProtKB/TrEMBL
	A1L3Z7	UniProtKB/TrEMBL
	Q4G0F7	UniProtKB/Swiss-Prot
	Q7L621	UniProtKB/Swiss-Prot
	Q8TEA5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-02	QRICH1	glutamine rich 1		glutamine-rich 1	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar