SSBP3 (single stranded DNA binding protein 3)

Gene: SSBP3 (single stranded DNA binding protein 3) Homo sapiens

Analyze

Symbol:

SSBP3

Name:

single stranded DNA binding protein 3

RGD ID:

731988

HGNC Page

HGNC:15674

Description:

Predicted to enable single-stranded DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CSDP; FLJ10355; sequence-specific single-stranded-DNA-binding protein; single-stranded DNA-binding protein 3; SSDP; SSDP1

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

SSBP3P1 SSBP3P2

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	1	54,225,432 - 54,413,490 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	54,225,432 - 54,413,479 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	54,691,105 - 54,879,163 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	54,464,783 - 54,644,680 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	54,404,615 - 54,583,917	NCBI
Celera	1	52,979,826 - 53,159,767 (-)	NCBI		Celera
Cytogenetic Map	1	p32.3	NCBI
HuRef	1	52,806,513 - 52,987,387 (-)	NCBI		HuRef
CHM1_1	1	54,807,651 - 54,988,420 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	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

Developmental Disease (IAGP)

genetic disease (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

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

2,4-dinitrotoluene (ISO)

2-butoxyethanol (ISO)

2-hydroxypropanoic acid (EXP)

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

4,4'-sulfonyldiphenol (EXP)

4-hydroxynon-2-enal (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

caffeine (EXP)

calcium silicate (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

choline (ISO)

ciguatoxin CTX1B (ISO)

copper atom (EXP)

copper(0) (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

diazinon (EXP)

dibutyl phthalate (ISO)

diethylstilbestrol (ISO)

diquat (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

fenthion (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

gentamycin (ISO)

indometacin (EXP)

L-methionine (ISO)

lead diacetate (EXP)

methapyrilene (EXP)

methidathion (ISO)

oxaliplatin (ISO)

paracetamol (ISO)

PhIP (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

pyrogallol (ISO)

rac-lactic acid (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

tetrachloromethane (ISO)

titanium dioxide (ISO)

topotecan (ISO)

triphenyl phosphate (ISO)

triptonide (ISO)

troglitazone (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (ISO)

zinc protoporphyrin (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

head development (IEA)

head morphogenesis (IEA)

hematopoietic progenitor cell differentiation (IEA,ISO)

mesendoderm development (IEA,ISO)

midbrain-hindbrain boundary initiation (IEA)

positive regulation of anterior head development (IEA)

positive regulation of cell population proliferation (IEA)

positive regulation of DNA-templated transcription (IEA)

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

prechordal plate formation (IEA)

protein-containing complex assembly (IEA)

Cellular Component

nucleus (IBA,IEA)

protein-containing complex (IEA)

transcription regulator complex (IEA)

Molecular Function

DNA binding (IEA)

protein binding (IPI)

single-stranded DNA binding (IEA)

transcription coactivator activity (IEA)

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:7566098	PMID:10524251	PMID:12079286	PMID:12381786	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16325762	PMID:16407974	PMID:17207965	PMID:18080319	PMID:18330356
PMID:19497860	PMID:20211142	PMID:20379614	PMID:20603019	PMID:21832049	PMID:21873635	PMID:23275444	PMID:24722188	PMID:24981860	PMID:25416956	PMID:26167880	PMID:26186194
PMID:26344197	PMID:26495868	PMID:26593974	PMID:26687479	PMID:26760575	PMID:27565346	PMID:27609421	PMID:28514442	PMID:28611215	PMID:29955894	PMID:30363057	PMID:30833792
PMID:31527615	PMID:32296183	PMID:32393512	PMID:33961781	PMID:35140242	PMID:37536498	PMID:38360978

Genomics

Comparative Map Data

SSBP3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	54,225,432 - 54,413,490 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	54,225,432 - 54,413,479 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	54,691,105 - 54,879,163 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	54,464,783 - 54,644,680 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	54,404,615 - 54,583,917	NCBI
Celera	1	52,979,826 - 53,159,767 (-)	NCBI		Celera
Cytogenetic Map	1	p32.3	NCBI
HuRef	1	52,806,513 - 52,987,387 (-)	NCBI		HuRef
CHM1_1	1	54,807,651 - 54,988,420 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	NCBI		T2T-CHM13v2.0

Ssbp3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	106,768,667 - 106,906,891 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	106,767,898 - 106,906,891 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	106,911,470 - 107,049,694 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	106,910,701 - 107,049,694 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	106,584,075 - 106,722,299 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	106,409,402 - 106,547,626 (+)	NCBI		MGSCv36	mm8
Celera	4	105,272,425 - 105,410,615 (+)	NCBI		Celera
Cytogenetic Map	4	C7	NCBI
cM Map	4	49.9	NCBI

Ssbp3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	126,920,145 - 127,057,968 (+)	NCBI		GRCr8
mRatBN7.2	5	121,691,370 - 121,828,035 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	121,691,393 - 121,827,992 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	124,310,490 - 124,447,492 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	126,033,508 - 126,170,510 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	126,084,812 - 126,221,819 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	126,511,339 - 126,649,830 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	126,511,350 - 126,648,661 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	130,364,154 - 130,500,627 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	127,987,980 - 128,127,771 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	127,993,205 - 128,132,997 (+)	NCBI
Celera	5	120,438,879 - 120,575,397 (+)	NCBI		Celera
Cytogenetic Map	5	q34	NCBI

Ssbp3
(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_004955464	4,901,151 - 5,047,656 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955464	4,901,150 - 5,049,341 (+)	NCBI	ChiLan1.0	ChiLan1.0

SSBP3
(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	1	172,429,230 - 172,608,737 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	171,570,463 - 171,749,558 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	53,501,656 - 53,680,682 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	55,094,800 - 55,281,039 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	55,094,820 - 55,272,207 (-)	Ensembl	panpan1.1		panPan2

SSBP3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	54,690,632 - 54,826,691 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	54,662,840 - 54,824,960 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	54,729,165 - 54,893,490 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	54,849,788 - 55,013,185 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	54,849,889 - 55,013,451 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	54,844,717 - 55,009,418 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	54,734,421 - 54,898,735 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	55,123,610 - 55,288,431 (+)	NCBI		UU_Cfam_GSD_1.0

Ssbp3
(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_024405058	68,458,512 - 68,614,243 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936522	6,802,052 - 6,956,129 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936522	6,802,057 - 6,957,640 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SSBP3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	157,911,493 - 158,081,476 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	157,911,583 - 158,081,478 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SSBP3
(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	20	78,528,630 - 78,708,518 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666033	38,577,763 - 38,758,509 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ssbp3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624934	161,054 - 311,937 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624934	161,323 - 313,621 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SSBP3
32 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]\|See cases [RCV000051819]	Chr1:50222546..61618373 [GRCh38] Chr1:50688218..62084045 [GRCh37] Chr1:50460805..61856633 [NCBI36] Chr1:1p32.3-31.3	pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	copy number gain	See cases [RCV000051822]	Chr1:52595352..76767765 [GRCh38] Chr1:53061024..77233450 [GRCh37] Chr1:52833612..77006038 [NCBI36] Chr1:1p32.3-31.1	pathogenic
GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	copy number loss	See cases [RCV000053840]	Chr1:54207426..54756958 [GRCh38] Chr1:54673099..55222631 [GRCh37] Chr1:54445687..54995219 [NCBI36] Chr1:1p32.3	pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	copy number loss	See cases [RCV000053839]	Chr1:53738212..61439648 [GRCh38] Chr1:54203885..61905320 [GRCh37] Chr1:53976473..61677908 [NCBI36] Chr1:1p32.3-31.3	pathogenic
NM_001009955.3(SSBP3):c.1040C>T (p.Ser347Phe)	single nucleotide variant	Malignant melanoma [RCV000064825]	Chr1:54228271 [GRCh38] Chr1:54693944 [GRCh37] Chr1:54466532 [NCBI36] Chr1:1p32.3	not provided
NM_001009955.3(SSBP3):c.276+10485G>C	single nucleotide variant	Lung cancer [RCV000090868]	Chr1:54391376 [GRCh38] Chr1:54857049 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	copy number loss	See cases [RCV000139470]	Chr1:53627272..64248854 [GRCh38] Chr1:54092945..64714537 [GRCh37] Chr1:53865533..64487125 [NCBI36] Chr1:1p32.3-31.3	pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	copy number gain	See cases [RCV000141758]	Chr1:52787503..67339873 [GRCh38] Chr1:53253175..67805556 [GRCh37] Chr1:53025763..67578144 [NCBI36] Chr1:1p32.3-31.3	likely pathogenic
GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	copy number gain	See cases [RCV000142034]	Chr1:53823735..54328113 [GRCh38] Chr1:54289408..54793786 [GRCh37] Chr1:54061996..54566374 [NCBI36] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	copy number loss	See cases [RCV000447334]	Chr1:51729573..55164001 [GRCh37] Chr1:1p32.3	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_145716.4(SSBP3):c.981G>C (p.Glu327Asp)	single nucleotide variant	Inborn genetic diseases [RCV003246086]	Chr1:54228773 [GRCh38] Chr1:54694446 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	copy number loss	not provided [RCV000684573]	Chr1:54575439..55381546 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	copy number loss	Chromosome 1p32-p31 deletion syndrome [RCV001263218]	Chr1:53675707..66644963 [GRCh37] Chr1:1p32.3-31.3	pathogenic
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	copy number loss	Abnormality of the kidney [RCV001352641]	Chr1:51941877..56688514 [GRCh37] Chr1:1p32.3-32.2	pathogenic
NM_145716.4(SSBP3):c.729dup (p.Gly244fs)	duplication	Developmental disorder [RCV003128005]	Chr1:54242199..54242200 [GRCh38] Chr1:54707872..54707873 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.177del (p.Leu59fs)	deletion	Neurodevelopmental disorder [RCV001780038]	Chr1:54404590 [GRCh38] Chr1:54870263 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.8C>T (p.Ala3Val)	single nucleotide variant	Inborn genetic diseases [RCV002945395]	Chr1:54406001 [GRCh38] Chr1:54871674 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.485C>T (p.Pro162Leu)	single nucleotide variant	Inborn genetic diseases [RCV002841879]	Chr1:54257149 [GRCh38] Chr1:54722822 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.722C>T (p.Pro241Leu)	single nucleotide variant	Inborn genetic diseases [RCV002778670]	Chr1:54242207 [GRCh38] Chr1:54707880 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.524C>T (p.Pro175Leu)	single nucleotide variant	Inborn genetic diseases [RCV002827101]	Chr1:54251844 [GRCh38] Chr1:54717517 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.323A>G (p.Asn108Ser)	single nucleotide variant	Inborn genetic diseases [RCV002985791]	Chr1:54281481 [GRCh38] Chr1:54747154 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.664G>A (p.Gly222Ser)	single nucleotide variant	Inborn genetic diseases [RCV002669056]	Chr1:54243287 [GRCh38] Chr1:54708960 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.938G>C (p.Gly313Ala)	single nucleotide variant	Inborn genetic diseases [RCV002934781]	Chr1:54228816 [GRCh38] Chr1:54694489 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.469G>A (p.Ala157Thr)	single nucleotide variant	Inborn genetic diseases [RCV002941646]	Chr1:54257165 [GRCh38] Chr1:54722838 [GRCh37] Chr1:1p32.3	uncertain significance
NM_145716.4(SSBP3):c.407C>T (p.Pro136Leu)	single nucleotide variant	Inborn genetic diseases [RCV003194702]	Chr1:54258109 [GRCh38] Chr1:54723782 [GRCh37] Chr1:1p32.3	uncertain significance
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
NM_145716.4(SSBP3):c.852C>T (p.Pro284=)	single nucleotide variant	not provided [RCV003406504]	Chr1:54240909 [GRCh38] Chr1:54706582 [GRCh37] Chr1:1p32.3	likely benign
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	copy number gain	not specified [RCV003986484]	Chr1:47493178..57042671 [GRCh37] Chr1:1p33-32.2	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3412
Count of miRNA genes:	949
Interacting mature miRNAs:	1149
Transcripts:	ENST00000326956, ENST00000357475, ENST00000371319, ENST00000371320, ENST00000417664, ENST00000420121, ENST00000426150, ENST00000444533, ENST00000448572, ENST00000525990, ENST00000528787, ENST00000528930, ENST00000530618, ENST00000533209, ENST00000533946
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

SHGC-74834

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,692,356 - 54,692,505	UniSTS	GRCh37
Build 36	1	54,464,944 - 54,465,093	RGD	NCBI36
Celera	1	52,979,987 - 52,980,136	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,807,765 - 52,807,914	UniSTS
TNG Radiation Hybrid Map	1	29702.0	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS
GeneMap99-GB4 RH Map	1	152.02	UniSTS
Whitehead-RH Map	1	173.9	UniSTS

AL009798

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,692,129 - 54,692,309	UniSTS	GRCh37
Build 36	1	54,464,717 - 54,464,897	RGD	NCBI36
Celera	1	52,979,760 - 52,979,940	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,807,538 - 52,807,718	UniSTS

SHGC-74857

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,833,630 - 54,833,758	UniSTS	GRCh37
Build 36	1	54,606,218 - 54,606,346	RGD	NCBI36
Celera	1	53,121,305 - 53,121,433	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,949,008 - 52,949,136	UniSTS
TNG Radiation Hybrid Map	1	29624.0	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS
NCBI RH Map	1	325.5	UniSTS

RH69813

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,843,995 - 54,844,131	UniSTS	GRCh37
Build 36	1	54,616,583 - 54,616,719	RGD	NCBI36
Celera	1	53,131,671 - 53,131,807	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,959,374 - 52,959,510	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS
NCBI RH Map	1	339.0	UniSTS

A008B22

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,838,666 - 54,838,913	UniSTS	GRCh37
Build 36	1	54,611,254 - 54,611,501	RGD	NCBI36
Celera	1	53,126,342 - 53,126,589	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,954,045 - 52,954,292	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS

RH79748

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,855,604 - 54,855,823	UniSTS	GRCh37
Build 36	1	54,628,192 - 54,628,411	RGD	NCBI36
Celera	1	53,143,280 - 53,143,499	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,970,983 - 52,971,202	UniSTS

AL033786

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,723,167 - 54,723,312	UniSTS	GRCh37
Build 36	1	54,495,755 - 54,495,900	RGD	NCBI36
Celera	1	53,010,716 - 53,010,861	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,838,539 - 52,838,684	UniSTS

SGC32284

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,852,388 - 54,852,537	UniSTS	GRCh37
Build 36	1	54,624,976 - 54,625,125	RGD	NCBI36
Celera	1	53,140,064 - 53,140,213	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,967,767 - 52,967,916	UniSTS
Whitehead-RH Map	1	173.6	UniSTS

STS-Z40052

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,691,231 - 54,691,283	UniSTS	GRCh37
Build 36	1	54,463,819 - 54,463,871	RGD	NCBI36
Celera	1	52,978,862 - 52,978,914	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,806,640 - 52,806,692	UniSTS
GeneMap99-GB4 RH Map	1	153.35	UniSTS

STS-T49250

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	79,218,894 - 79,219,040	UniSTS	GRCh37
GRCh37	1	54,695,097 - 54,695,497	UniSTS	GRCh37
Build 36	1	54,467,685 - 54,468,085	RGD	NCBI36
Celera	1	52,982,729 - 52,983,129	RGD
Celera	17	75,849,438 - 75,849,584	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
HuRef	17	74,654,990 - 74,655,136	UniSTS
HuRef	1	52,810,508 - 52,810,908	UniSTS
GeneMap99-GB4 RH Map	17	527.2	UniSTS
NCBI RH Map	17	810.0	UniSTS

SHGC-153764

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,719,165 - 54,719,357	UniSTS	GRCh37
Build 36	1	54,491,753 - 54,491,945	RGD	NCBI36
Celera	1	53,006,714 - 53,006,906	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,834,537 - 52,834,729	UniSTS
TNG Radiation Hybrid Map	1	29685.0	UniSTS

GDB:1318452

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	39,885,860 - 39,886,097	UniSTS	GRCh37
Build 36	7	39,852,385 - 39,852,622	RGD	NCBI36
Celera	7	39,874,071 - 39,874,308	RGD
HuRef	7	39,769,951 - 39,770,188	UniSTS
CRA_TCAGchr7v2	7	39,923,741 - 39,923,978	UniSTS

SSBP3__5320

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,692,355 - 54,692,821	UniSTS	GRCh37
Build 36	1	54,464,943 - 54,465,409	RGD	NCBI36
Celera	1	52,979,986 - 52,980,452	RGD
HuRef	1	52,807,764 - 52,808,230	UniSTS

G20421

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,692,066 - 54,692,273	UniSTS	GRCh37
Build 36	1	54,464,654 - 54,464,861	RGD	NCBI36
Celera	1	52,979,697 - 52,979,904	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,807,475 - 52,807,682	UniSTS

A005Q36

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,692,066 - 54,692,273	UniSTS	GRCh37
Build 36	1	54,464,654 - 54,464,861	RGD	NCBI36
Celera	1	52,979,697 - 52,979,904	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,807,475 - 52,807,682	UniSTS
TNG Radiation Hybrid Map	1	29689.0	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS
NCBI RH Map	1	339.0	UniSTS

RH70403

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,838,685 - 54,838,816	UniSTS	GRCh37
Build 36	1	54,611,273 - 54,611,404	RGD	NCBI36
Celera	1	53,126,361 - 53,126,492	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,954,064 - 52,954,195	UniSTS
GeneMap99-GB4 RH Map	1	152.63	UniSTS
NCBI RH Map	1	339.0	UniSTS

SHGC-58180

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,756,894 - 54,757,041	UniSTS	GRCh37
Build 36	1	54,529,482 - 54,529,629	RGD	NCBI36
Celera	1	53,044,438 - 53,044,585	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,872,279 - 52,872,426	UniSTS
TNG Radiation Hybrid Map	1	29649.0	UniSTS

D1S3134

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	54,858,037 - 54,858,287	UniSTS	GRCh37
Build 36	1	54,630,625 - 54,630,875	RGD	NCBI36
Celera	1	53,145,713 - 53,145,963	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,973,416 - 52,973,666	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

2424

2330

1671

571

1437

417

4139

1836

3554

388

1442

1590

167

1204

2581

Low

657

514

217

358

155

207

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001009955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_145716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006710545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF086085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF500116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI565975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL035415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL161644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL354778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL519196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX876245	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF060746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ051652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN602300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000326956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,356,818 (-)	Ensembl

RefSeq Acc Id:

ENST00000357475 ⟹ ENSP00000350067

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,406,223 (-)	Ensembl

RefSeq Acc Id:

ENST00000371319 ⟹ ENSP00000360370

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,406,008 (-)	Ensembl

RefSeq Acc Id:

ENST00000371320 ⟹ ENSP00000360371

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,227,055 - 54,402,409 (-)	Ensembl

RefSeq Acc Id:

ENST00000417664 ⟹ ENSP00000414361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,405,504 (-)	Ensembl

RefSeq Acc Id:

ENST00000420121

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,239,096 - 54,257,266 (-)	Ensembl

RefSeq Acc Id:

ENST00000426150

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,228,255 - 54,325,439 (-)	Ensembl

RefSeq Acc Id:

ENST00000444533 ⟹ ENSP00000405880

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,238,989 - 54,251,860 (-)	Ensembl

RefSeq Acc Id:

ENST00000448572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,412,708 - 54,413,466 (-)	Ensembl

RefSeq Acc Id:

ENST00000525990 ⟹ ENSP00000431654

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,243,237 - 54,413,479 (-)	Ensembl

RefSeq Acc Id:

ENST00000528787

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,243,272 - 54,335,881 (-)	Ensembl

RefSeq Acc Id:

ENST00000528930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,229,455 (-)	Ensembl

RefSeq Acc Id:

ENST00000530618

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,242,856 - 54,251,671 (-)	Ensembl

RefSeq Acc Id:

ENST00000533209

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,243,189 - 54,326,472 (-)	Ensembl

RefSeq Acc Id:

ENST00000533946

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,433 - 54,404,633 (-)	Ensembl

RefSeq Acc Id:

ENST00000610401 ⟹ ENSP00000479674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	54,225,432 - 54,406,394 (-)	Ensembl

RefSeq Acc Id:

NM_001009955 ⟹ NP_001009955

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
GRCh37	1	54,691,104 - 54,872,068 (-)	NCBI
Build 36	1	54,464,783 - 54,644,680 (-)	NCBI Archive
Celera	1	52,979,826 - 53,159,767 (-)	RGD
HuRef	1	52,806,513 - 52,987,387 (-)	NCBI
CHM1_1	1	54,807,651 - 54,988,420 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCACCGC
GATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGG
GACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGA
GGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGAATT
ACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACATGGG
CCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAATTCCATACTCCTCCTCA
TCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATGCCCA
GTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATTAATCCAGTGCCGCCTGG
AGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGGTGGC
ATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAAAATT
CTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGCTAGG
AGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCATGACGATGAGTGTGTGA
TCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATTATGC
AAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAACCCC
CTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCCAAAC
TTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACCAGAA
AAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTGTTTT
TTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGGGGAA
AATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCTTCTT
AAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAACCAGAAGCCCTGCTGTCTGTCT
GTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGAGCCCACATTGTCTGTAGCCAT
CAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTTTCTTTCAAAAGGCCTTTTTTG
GAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGGTTTGTGCAACAGGCAGGGGAG
GAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAGCAGCGGCACGCTTGGACCCCA
GAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACTGACCCCTTTCAGGATTCCACC
ACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCCCAGGACACCCTCCTCCTCTCC
TGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTCTGCCCCCACCCCAGTCT
TCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGGGAGAGGCTGCCACTGAC
AGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGTTCTGGTCCCGAGATCCTCGCA
TCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGGTTTTCTTTGTTTTTTCTCTTT
ATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCTGTATATGCTTGGGACTGGATG
GAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACAACCAAACAGACGTGCTGGCTC
CAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGGAGCCTGTCCCCTCCCGGGAGG
GTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTTGTGTCTTGCCCTGGAAGACAC
CCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTCCCCTGTAGCTGGTCTTTGTTT
TACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGATATCATCTGCCTGAAAAAAGA
CTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTTTTTCTTACCTTGTAGTCTGGT
TCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTAGTTTGTGTACGATATATGTTG
ATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394360 ⟹ NP_001381289

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCACCGC
GATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGG
GACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGA
GGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGACTG
ACCCTTGGTTATCGTTGCAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCC
CGCCATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCT
AACTCAATTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTC
CTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACAC
AATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGAC
GGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCG
ACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCAC
CCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCT
CCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAG
GCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGG
CATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAG
TTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAA
TGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTG
TACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGT
TTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCC
AATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAA
AACCAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTG
AGAGCCCACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTG
GTTTCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTT
TGGTTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAA
CAGCAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACC
ACTGACCCCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGT
TCCCAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCC
CCTCCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGC
AGAGTGGGAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCG
CGTTCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTC
CGGTTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGC
TCTGTATATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCG
ACAACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAG
TGGAGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACC
TTTGTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCC
CTCCCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTG
AGATATCATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTG
TTTTTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATT
GTAGTTTGTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394361 ⟹ NP_001381290

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACATTCGATGGGAAAAAAACATCACGTTGGGAGAACCG
CCTGGGTTTTTGCACTCGTGGTGGTGTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGA
GAGACACTTGTGAACATTCAAGTGAAGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCC
GAGCCCCGTGCTTGGCAACATTCCCCCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGT
TTCTTTCAGCCTTTTATGTCACCGCGATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAA
ACCAGCCTCCGGGAGGAGTTCCTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACG
ACAACAAGGCCACCCCAACATGGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGG
CCCATGGGTCCCGGCCCACAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCC
CCGCCATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGC
TAACTCAATTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGT
CCTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACA
CAATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGA
CGGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGC
GACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCA
CCCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTC
TCCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCA
GGCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGG
GCATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTA
GTTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAA
ATGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCT
GTACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTG
TTTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCC
CAATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGA
AAACCAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGT
GAGAGCCCACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTT
GGTTTCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTT
TTGGTTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCA
ACAGCAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGAC
CACTGACCCCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTG
TTCCCAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGC
CCCTCCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCG
CAGAGTGGGAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCC
GCGTTCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTT
CCGGTTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTG
CTCTGTATATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACC
GACAACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACA
GTGGAGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAAC
CTTTGTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTC
CCTCCCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGT
GAGATATCATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGT
GTTTTTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACAT
TGTAGTTTGTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394362 ⟹ NP_001381291

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTCCGGGAGGAGTTC
CTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACAT
GGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAG
AATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACA
TGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAATTCCATACTCCTC
CTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATG
CCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATTAATCCAGTGCCGC
CTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGG
TGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAA
AATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGC
TAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCATGACGATGAGTGT
GTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATT
ATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAA
CCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCC
AAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACC
AGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTG
TTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGG
GGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCT
TCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAACCAGAAGCCCTGCTGTCT
GTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGAGCCCACATTGTCTGTAG
CCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTTTCTTTCAAAAGGCCTTT
TTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGGTTTGTGCAACAGGCAGG
GGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAGCAGCGGCACGCTTGGAC
CCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACTGACCCCTTTCAGGATTC
CACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCCCAGGACACCCTCCTCCT
CTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTCTGCCCCCACCCCA
GTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGGGAGAGGCTGCCAC
TGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGTTCTGGTCCCGAGATCCT
CGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGGTTTTCTTTGTTTTTTCT
CTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCTGTATATGCTTGGGACTG
GATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACAACCAAACAGACGTGCTG
GCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGGAGCCTGTCCCCTCCCGG
GAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTTGTGTCTTGCCCTGGAAG
ACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTCCCCTGTAGCTGGTCTTT
GTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGATATCATCTGCCTGAAAA
AAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTTTTTCTTACCTTGTAGTC
TGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTAGTTTGTGTACGATATAT
GTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394363 ⟹ NP_001381292

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCACCGC
GATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGG
GACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGA
GGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGGGAC
CCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTC
CAGTGACAACATCTACACAATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCG
ATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATG
GATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCAT
TAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTT
CAGAACGACAATTATTCTCCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTG
AGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCC
AGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCC
TACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAA
GGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTC
CCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGT
TGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTC
TAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAA
GGAAAAAAAAAAAAGGAAAACCAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGA
AAAGCTAGTCTAGGTGTGAGAGCCCACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTG
GACAGTTTACAATCGTTGGTTTCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACC
GTTTTCCACTTGGGGTTTTGGTTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTA
GCTTGATTTCCATGGCAACAGCAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGT
GGCCAGAGGGGCCGGACCACTGACCCCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGA
CCCGGTGGCATGCACTGTTCCCAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGC
CTCCCTGCCTCTCCAGCCCCTCCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGC
TGGGTGGTGGCCTGGCGCAGAGTGGGAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACA
TGGAAACAGTGACCTCCGCGTTCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGG
CTTGGGGGGCTGGAGTTCCGGTTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGG
GATACTGATCAGAATTGCTCTGTATATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTG
GGGGGTGGGGGGACACCGACAACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAA
AACCAACAAGCCCGACAGTGGAGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCT
CATCACCCCACGGAAACCTTTGTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACA
TGCCCTTCTCCTTCCTCCCTCCCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCA
TGTATATCATATTATGTGAGATATCATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAAC
ATTGTAGCTGTTTCTGTGTTTTTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAA
AAGTAATTATGATACATTGTAGTTTGTGTACGATATATGTTGATAACGTTTTATTAAAGGGACA
TCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394364 ⟹ NP_001381293

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,413,490 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	NCBI

Sequence:

show sequence

CTCTGGAGCTCCTTTTACTCTGGAAAGAACATGACAGACATCCTCTGCCCTTCAGCCTGTGCCC
CAGAATGAGAGACCCATGGGACAGACTCAAGCTGTACCCTGAAGCAGAGCTGCCCAGTTGACTG
CAGACCTGTTAGCTTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACA
GACCTTCTTATCGGAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTG
CACTCGTGGTGGTGTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTG
AACATTCAAGTGAAGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCT
TGGCAACATTCCCCCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGGGT
CCTCCGGGGTCACAGCCCTCGCCGCACGCACAGCCTCCACCTCACAATCCTAGCAGCATGATGG
GACCCCACAGTCAGCCTTTTATGTCACCGCGATACGCAGGCGGCCCCAGGCCCCCGATCAGAAT
GGGAAACCAGCCTCCGGGAGGAGTTCCTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCC
ACACGACAACAAGGCCACCCCAACATGGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCA
TGGGGCCCATGGGTCCCGGCCCACAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCT
CGGCCCCGCCATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAAC
AGTGCTAACTCAATTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTG
GCGGTCCTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACAT
CTACACAATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGC
TCGGACGGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGT
CAGGCGACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCC
AGGCACCCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAAT
TATTCTCCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCA
TTGCAGGCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGG
GGAGGGCATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAA
TTTTAGTTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCT
CAAAAATGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCT
TTTCTGTACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTT
ATTTGTTTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCC
CACCCCAATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAA
AAGGAAAACCAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTA
GGTGTGAGAGCCCACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAA
TCGTTGGTTTCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTG
GGGTTTTGGTTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCA
TGGCAACAGCAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGC
CGGACCACTGACCCCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATG
CACTGTTCCCAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCT
CCAGCCCCTCCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCC
TGGCGCAGAGTGGGAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGA
CCTCCGCGTTCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTG
GAGTTCCGGTTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAG
AATTGCTCTGTATATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGG
ACACCGACAACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCC
CGACAGTGGAGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACG
GAAACCTTTGTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCT
TCCTCCCTCCCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATAT
TATGTGAGATATCATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTT
TCTGTGTTTTTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGA
TACATTGTAGTTTGTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGC
A

hide sequence

RefSeq Acc Id:

NM_001394365 ⟹ NP_001381294

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,413,490 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	NCBI

Sequence:

show sequence

CTCTGGAGCTCCTTTTACTCTGGAAAGAACATGACAGACATCCTCTGCCCTTCAGCCTGTGCCC
CAGAATGAGAGACCCATGGGACAGACTCAAGCTGTACCCTGAAGCAGAGCTGCCCAGTTGACTG
CAGACCTAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCCCCCAACGATGGGATG
CCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCACCGCGATACGCAGGCGGCC
CCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGGGACACAGCCATTGCT
GCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGAGGATCAATGCAGAGA
ATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGAATTACGGCAGCGGCATGA
GACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAG
ACCCTGGCCCAATCCTAACAGTGCTAACTCAATTCCATACTCCTCCTCATCACCTGGTACCTAT
GTGGGACCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAA
CAAATTCCAGTGACAACATCTACACAATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAA
CTTCCCGATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCAC
ATGAATGGATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAA
GTGGCATTAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCA
CTCCTTTCAGAACGACAATTATTCTCCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGA
GACGCTGAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTC
ATTATCCAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCA
CGCCCCCTACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAA
ACAAGAAGGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTG
CCCTTTCCCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTA
CCATTGTTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGG
AAGCTTCTAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAA
GGAAAAAGGAAAAAAAAAAAAGGAAAACCAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTC
CACCAGAAAAGCTAGTCTAGGTGTGAGAGCCCACATTGTCTGTAGCCATCAAAAATAATAATAA
TAAACTGGACAGTTTACAATCGTTGGTTTCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGC
AGTCACCGTTTTCCACTTGGGGTTTTGGTTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTT
TGTTCTAGCTTGATTTCCATGGCAACAGCAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTC
ATCCTGTGGCCAGAGGGGCCGGACCACTGACCCCTTTCAGGATTCCACCACAGCCCAGACCGTC
ACCGTGACCCGGTGGCATGCACTGTTCCCAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCG
TCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCC
TGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGGGAGAGGCTGCCACTGACAGGATGGCTATGACC
TGGGACATGGAAACAGTGACCTCCGCGTTCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGT
GCACCGGCTTGGGGGGCTGGAGTTCCGGTTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCA
AAGATGGGATACTGATCAGAATTGCTCTGTATATGCTTGGGACTGGATGGAAAGACTTTGGAGC
AGCTGTGGGGGGTGGGGGGACACCGACAACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTAC
TTTCAAAAACCAACAAGCCCGACAGTGGAGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCA
CTCACCTCATCACCCCACGGAAACCTTTGTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTAC
ATTGACATGCCCTTCTCCTTCCTCCCTCCCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTC
TGATCCATGTATATCATATTATGTGAGATATCATCTGCCTGAAAAAAGACTTTGTGCGGATTAT
TGGGAACATTGTAGCTGTTTCTGTGTTTTTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAG
GAAAAAAAAGTAATTATGATACATTGTAGTTTGTGTACGATATATGTTGATAACGTTTTATTAA
AGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394366 ⟹ NP_001381295

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,413,490 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	NCBI

Sequence:

show sequence

CTCTGGAGCTCCTTTTACTCTGGAAAGAACATGACAGACATCCTCTGCCCTTCAGCCTGTGCCC
CAGAATGAGAGACCCATGGGACAGACTCAAGCTGTACCCTGAAGCAGAGCTGCCCAGTTGACTG
CAGACCTATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGG
TGGTGTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAA
GTGAAGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACAT
TCCCCCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCA
CCGCGATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTC
CTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACAT
GGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAG
AATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACA
TGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAATTCCATACTCCTC
CTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATG
CCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATTAATCCAGTGCCGC
CTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGG
TGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAA
AATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGC
TAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCATGACGATGAGTGT
GTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATT
ATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAA
CCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCC
AAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACC
AGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTG
TTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGG
GGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCT
TCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAACCAGAAGCCCTGCTGTCT
GTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGAGCCCACATTGTCTGTAG
CCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTTTCTTTCAAAAGGCCTTT
TTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGGTTTGTGCAACAGGCAGG
GGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAGCAGCGGCACGCTTGGAC
CCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACTGACCCCTTTCAGGATTC
CACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCCCAGGACACCCTCCTCCT
CTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTCTGCCCCCACCCCA
GTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGGGAGAGGCTGCCAC
TGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGTTCTGGTCCCGAGATCCT
CGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGGTTTTCTTTGTTTTTTCT
CTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCTGTATATGCTTGGGACTG
GATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACAACCAAACAGACGTGCTG
GCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGGAGCCTGTCCCCTCCCGG
GAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTTGTGTCTTGCCCTGGAAG
ACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTCCCCTGTAGCTGGTCTTT
GTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGATATCATCTGCCTGAAAA
AAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTTTTTCTTACCTTGTAGTC
TGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTAGTTTGTGTACGATATAT
GTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_001394367 ⟹ NP_001381296

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,413,490 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,296,354 (-)	NCBI

Sequence:

show sequence

CTCTGGAGCTCCTTTTACTCTGGAAAGAACATGACAGACATCCTCTGCCCTTCAGCCTGTGCCC
CAGAATGAGAGACCCATGGGACAGACTCAAGCTGTACCCTGAAGCAGAGCTGCCCAGTTGACTG
CAGACCTGTTAGCTTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACA
GACCTTCTTATCGGAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTG
CACTCGTGGTGGTGTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTG
AACATTCAAGTGAAGCAAAAGCCTTTCATGATTATATTGCACCAAATGGTGATAGGTGAAGGGT
CTCTGGAGAGGGCAGGATACTTTGGAGGCTGGAATTGAACCATGTTGTCTTAATCCAGAGCCTG
TGGGAGAGAGAAGGCCCATGAAAGCACTCTGCAGACTGTAAAGTGCTACATGAAATAAAAGGCA
TGTGAGAAAAGAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCCCCCAACGATGG
GATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGCCTTTTATGTCACCGCGATACGCAGGC
GGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGGGACACAGCCAT
TGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGAGGATCAATGCA
GAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGAATTACGGCAGCGGC
ATGAGACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACATGGGCCCGGGAGCTG
GCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAGGACCCCCTGGTGGTGGCGGTCCTCCAGG
AACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATT
AATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGA
TGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGA
CGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGA
GATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCA
TGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAA
GATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCC
CTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATG
CAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTT
CAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGA
CACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGG
GGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAAC
CTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAACCAGA
AGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGAGCCC
ACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTTTCTT
TCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGGTTTG
TGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAGCAGC
GGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACTGACC
CCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCCCAGG
ACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTC
TGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGG
GAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGTTCTG
GTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGGTTTT
CTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCTGTAT
ATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACAACCA
AACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGGAGCC
TGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTTGTGT
CTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTCCCCT
GTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGATATC
ATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTTTTTC
TTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTAGTTT
GTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_018070 ⟹ NP_060540

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
GRCh37	1	54,691,104 - 54,872,068 (-)	NCBI
Build 36	1	54,464,783 - 54,644,567 (-)	NCBI Archive
Celera	1	52,979,826 - 53,159,767 (-)	RGD
HuRef	1	52,806,513 - 52,987,387 (-)	NCBI
CHM1_1	1	54,807,651 - 54,988,420 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGGGTCCTCCGGGGTCAC
AGCCCTCGCCGCACGCACAGCCTCCACCTCACAATCCTAGCAGCATGATGGGACCCCACAGTCA
GCCTCCGGGAGGAGTTCCTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAA
CAAGGCCACCCCAACATGGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCA
TGGGTCCCGGCCCACAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGC
CATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAAC
TCAATTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTC
CAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAAT
GATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGT
CCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACA
TAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCC
TCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCA
AGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCG
GGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCAT
CTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTT
CATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGT
ATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTAC
ATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTT
CAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAAT
CAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAAC
CAGAAGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGA
GCCCACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTT
TCTTTCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGG
TTTGTGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAG
CAGCGGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACT
GACCCCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCC
CAGGACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCT
CCTCTGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGA
GTGGGAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGT
TCTGGTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGG
TTTTCTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCT
GTATATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACA
ACCAAACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGG
AGCCTGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTT
GTGTCTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTC
CCCTGTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGA
TATCATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTT
TTTCTTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTA
GTTTGTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

NM_145716 ⟹ NP_663768

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,406,394 (-)	NCBI
GRCh37	1	54,691,104 - 54,872,068 (-)	NCBI
Build 36	1	54,464,783 - 54,644,567 (-)	NCBI Archive
Celera	1	52,979,826 - 53,159,767 (-)	RGD
HuRef	1	52,806,513 - 52,987,387 (-)	NCBI
CHM1_1	1	54,807,651 - 54,988,420 (-)	NCBI
T2T-CHM13v2.0	1	54,108,317 - 54,289,259 (-)	NCBI

Sequence:

show sequence

AGACCAGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGTGCTGGAGGCGCAGAGGGCGGCGCAGG
CGGAGCCGGGCGGGCGCGCGAGCGAGCGGAGAGCGGGCGGCCGTGCGGGCGGCGGCGGCGGCAC
CCCCAGGCCGAGCCGGCGCGGAAGGAGTTCCAGGGCGATGGGGCCGCGGCCGGGGCTGACGCTT
TGACAGCTGGAAAGAGCGCGGAGCCAGCGCCTGGGGGGGAGGGAGGGGAGCGCGGCGAGGAGAG
CGCCAGCGAGCGAGAGAGCGAGCGAGCGCCGGGGAGGGGGCCGGGAGCGAGGGGCAGCTCGGGA
GAGCCGGAGCGGTAGCGGCGGCGGCGGCGGCGGCGGCGAGGCTCGGCGCCCTCTTCCCTGCAAA
CCATGTTTGCCAAAGGCAAAGGCTCGGCGGTGCCCTCGGATGGGCAGGCTCGGGAAAAGTTAGC
TTTATACGTCTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCG
GAGATTCGATGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGT
GTGTATTTTGGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGA
AGCAAAAGCCTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCC
CCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGGGTCCTCCGGGGTCAC
AGCCCTCGCCGCACGCACAGCCTCCACCTCACAATCCTAGCAGCATGATGGGACCCCACAGTCA
GCCTTTTATGTCACCGCGATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCT
CCGGGAGGAGTTCCTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAG
GCCACCCCAACATGGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGG
TCCCGGCCCACAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGCCATG
CCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAA
TTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTCCAGG
AACACCCATTATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATT
AATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGA
TGGGCGGCATGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGA
CGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGA
GATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCA
TGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAA
GATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCC
CTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATG
CAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTT
CAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGA
CACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGG
GGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAAC
CTCTATGCTTTCTTCTTAAAAAAAAAAAAAAAGGAAAAAGGAAAAAAAAAAAAGGAAAACCAGA
AGCCCTGCTGTCTGTCTGTGCCCAAGCCCTTCCACCAGAAAAGCTAGTCTAGGTGTGAGAGCCC
ACATTGTCTGTAGCCATCAAAAATAATAATAATAAACTGGACAGTTTACAATCGTTGGTTTCTT
TCAAAAGGCCTTTTTTGGAAAGAAGAAAAGGCAGTCACCGTTTTCCACTTGGGGTTTTGGTTTG
TGCAACAGGCAGGGGAGGAGTGGGGACGCGTTTGTTCTAGCTTGATTTCCATGGCAACAGCAGC
GGCACGCTTGGACCCCAGAACCCAGCACCCTCATCCTGTGGCCAGAGGGGCCGGACCACTGACC
CCTTTCAGGATTCCACCACAGCCCAGACCGTCACCGTGACCCGGTGGCATGCACTGTTCCCAGG
ACACCCTCCTCCTCTCCTGGACCTCCCTTCCGTCCTGGCCTCCCTGCCTCTCCAGCCCCTCCTC
TGCCCCCACCCCAGTCTTCCCAGTGAGAATCCTGCCAGCTGGGTGGTGGCCTGGCGCAGAGTGG
GAGAGGCTGCCACTGACAGGATGGCTATGACCTGGGACATGGAAACAGTGACCTCCGCGTTCTG
GTCCCGAGATCCTCGCATCAGCGTCATCGTGTGCACCGGCTTGGGGGGCTGGAGTTCCGGTTTT
CTTTGTTTTTTCTCTTTATTCGTCCTTTCTCAAAGATGGGATACTGATCAGAATTGCTCTGTAT
ATGCTTGGGACTGGATGGAAAGACTTTGGAGCAGCTGTGGGGGGTGGGGGGACACCGACAACCA
AACAGACGTGCTGGCTCCAGTCCTGTTTTTACTTTCAAAAACCAACAAGCCCGACAGTGGAGCC
TGTCCCCTCCCGGGAGGGTGCTCATGGCCCCACTCACCTCATCACCCCACGGAAACCTTTGTGT
CTTGCCCTGGAAGACACCCGAATTCTTTGTACATTGACATGCCCTTCTCCTTCCTCCCTCCCCT
GTAGCTGGTCTTTGTTTTACTCCCTCCCTTTCTGATCCATGTATATCATATTATGTGAGATATC
ATCTGCCTGAAAAAAGACTTTGTGCGGATTATTGGGAACATTGTAGCTGTTTCTGTGTTTTTTC
TTACCTTGTAGTCTGGTTCTGAATTAAGAGAGGAAAAAAAAGTAATTATGATACATTGTAGTTT
GTGTACGATATATGTTGATAACGTTTTATTAAAGGGACATCTTTTTTCCGCA

hide sequence

RefSeq Acc Id:

XM_017000897 ⟹ XP_016856386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,405,259 (-)	NCBI

Sequence:

show sequence

AGGTGGCTGTGGGGTCGAGTGGCTTGCGAGTTTGAGGAACCTAGGTGGGTTTGCCCGCGACGCC
ACTTGGAAGTTCAAGTTTGGGGGCTGCTCTCCATCCCTCACCGCTTGAGGTTAGCTTTATACGT
CTACGAATATTTACTGCACGTAGGAGCACAGAAATCTGCACAGACCTTCTTATCGGAGATTCGA
TGGGAAAAAAACATCACGTTGGGAGAACCGCCTGGGTTTTTGCACTCGTGGTGGTGTGTATTTT
GGGACCTTTACTGTGCAGCTCCTGAAAGGAGAGACACTTGTGAACATTCAAGTGAAGCAAAAGC
CTTTCATGATTATAGTGCAGCAGCTGCCCCGAGCCCCGTGCTTGGCAACATTCCCCCCAACGAT
GGGATGCCGGGAGGCCCCATCCCGCCAGGTTTCTTTCAGGGTCCTCCGGGGTCACAGCCCTCGC
CGCACGCACAGCCTCCACCTCACAATCCTAGCAGCATGATGGGACCCCACAGTCAGCCTTTTAT
GTCACCGCGATACGCAGGCGGCCCCAGGCCCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGA
GTTCCTGGGACACAGCCATTGCTGCCCAATTCTATGGATCCCACACGACAACAAGGCCACCCCA
ACATGGGAGGATCAATGCAGAGAATGAACCCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCC
ACAGAATTACGGCAGCGGCATGAGACCACCACCCAACTCCCTCGGCCCCGCCATGCCCGGGATT
AACATGGGCCCGGGAGCTGGCAGACCCTGGCCCAATCCTAACAGTGCTAACTCAATTCCATACT
CCTCCTCATCACCTGGTACCTATGTGGGACCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCAT
TATGCCCAGTCCCGCAGATTCAACAAATTCCAGTGACAACATCTACACAATGATTAATCCAGTG
CCGCCTGGAGGCAGCCGGTCCAACTTCCCGATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCA
TGGGTGGCATGGAGCCACACCACATGAATGGATCATTAGGGTCAGGCGACATAGACGGACTTCC
AAAAAATTCTCCTAACAACATAAGTGGCATTAGCAATCCTCCAGGCACCCCTCGAGATGACGGC
GAGCTAGGAGGGAACTTCCTCCACTCCTTTCAGAACGACAATTATTCTCCAAGCATGACGATGA
GTGTGTGATCCCCCCTTCTCCGAGACGCTGAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGA
AATTATGCAAGAAGTGAGGTGTCATTATCCAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCC
TCAACCCCCTCCCACCCCATCCACGCCCCCTACCTTTCCCAATTTTAGTTTCATGCAATAAAAA
GGCCAAACTTTTTATTCCATAAAACAAGAAGGACAAAACTCTCAAAAATGTATTTCAAGTCAGT
GACCAGAAAAATCCCACCCCTTGCCCTTTCCCCAAAGGACCTTTTCTGTACATGACACTTTTTT
GTTGTTTTTTGTTTGGGGTTTTACCATTGTTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTT
TGGGGGAAAATTTTTTTAAATGGAAGCTTCTAGCAAGCCCCCCACCCCAATCAACCTCTATGCT
TTCTTCTTAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017000898 ⟹ XP_016856387

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,335,880 (-)	NCBI

Sequence:

show sequence

GGCTGGGGCCTCTGAGGGCTTCAGGAAGATTTCCGGTGAGTCCCCCAACGTGGGGGGCCATGTT
AGTCAGCATCCATTTAATCCCATCTCATATTTGCCCTGCTTACTGCAGAGACCCAGTGGGTAAA
AGGAAACAGGATAGCCCACTGGATTATAGTCTTTCTGGAATGGATAGTTAGAAGTTTAAGAAGT
TATGCCCATCAGAGGTACAGAAGTCCCTGGCTAAGAATCCAGAGTGCCAGTGCTAGAAGAACTT
TAGAGATGGTTCTGTTTATTCCCTTCTTTCTGCAGATGTAGTAGCTGAAGCTCAGAGAGGTTAA
GTAATCGGTCGAAGCCACACAGGAAGCGGTAAAGCTGGAATTGGCGCCCATCTCTCTGGCTCCA
GTGCCCATGCTTGTCCTGTGACATCATCTTGGCTCCTGCTCTTAATCCTCCCTTGCGAGACTTA
TTTCTCCTGCCCTTCCCCCAGCTACTTCCTTTTCCTGCCTGGATTCCCCAGGAATTCCTCTGCG
TTGCTGCCTTGTCCAGCCTGGGAGAAGCGACAAGAGCTGACCATTTGAAGTGCAGCAGCTGCCC
CGAGCCCCGTGCTTGGCAACATTCCCCCCAACGATGGGATGCCGGGAGGCCCCATCCCGCCAGG
TTTCTTTCAGGGTCCTCCGGGGTCACAGCCCTCGCCGCACGCACAGCCTCCACCTCACAATCCT
AGCAGCATGATGGGACCCCACAGTCAGCCTTTTATGTCACCGCGATACGCAGGCGGCCCCAGGC
CCCCGATCAGAATGGGAAACCAGCCTCCGGGAGGAGTTCCTGGGACACAGCCATTGCTGCCCAA
TTCTATGGATCCCACACGACAACAAGGCCACCCCAACATGGGAGGATCAATGCAGAGAATGAAC
CCTCCCCGAGGCATGGGGCCCATGGGTCCCGGCCCACAGAATTACGGCAGCGGCATGAGACCAC
CACCCAACTCCCTCGGCCCCGCCATGCCCGGGATTAACATGGGCCCGGGAGCTGGCAGACCCTG
GCCCAATCCTAACAGTGCTAACTCAATTCCATACTCCTCCTCATCACCTGGTACCTATGTGGGA
CCCCCTGGTGGTGGCGGTCCTCCAGGAACACCCATTATGCCCAGTCCCGCAGATTCAACAAATT
CCAGTGACAACATCTACACAATGATTAATCCAGTGCCGCCTGGAGGCAGCCGGTCCAACTTCCC
GATGGGTCCCGGCTCGGACGGTCCGATGGGCGGCATGGGTGGCATGGAGCCACACCACATGAAT
GGATCATTAGGGTCAGGCGACATAGACGGACTTCCAAAAAATTCTCCTAACAACATAAGTGGCA
TTAGCAATCCTCCAGGCACCCCTCGAGATGACGGCGAGCTAGGAGGGAACTTCCTCCACTCCTT
TCAGAACGACAATTATTCTCCAAGCATGACGATGAGTGTGTGATCCCCCCTTCTCCGAGACGCT
GAGAGAGCAGGCATTGCAGGCGGGAAGATGCCAGAAATTATGCAAGAAGTGAGGTGTCATTATC
CAGGAGCTGGTGGGGAGGGCATCTCCCTGCTCCCCTCAACCCCCTCCCACCCCATCCACGCCCC
CTACCTTTCCCAATTTTAGTTTCATGCAATAAAAAGGCCAAACTTTTTATTCCATAAAACAAGA
AGGACAAAACTCTCAAAAATGTATTTCAAGTCAGTGACCAGAAAAATCCCACCCCTTGCCCTTT
CCCCAAAGGACCTTTTCTGTACATGACACTTTTTTGTTGTTTTTTGTTTGGGGTTTTACCATTG
TTGGGATTTTTTTATTTGTTTTCAGGGGGGTTTTTTGGGGGAAAATTTTTTTAAATGGAAGCTT
CTAGCAAGCCCCCCACCCCAATCAACCTCTATGCTTTCTTCTTAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047416692 ⟹ XP_047272648

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,359,207 (-)	NCBI

RefSeq Acc Id:

XM_047416693 ⟹ XP_047272649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,359,207 (-)	NCBI

RefSeq Acc Id:

XM_047416695 ⟹ XP_047272651

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,359,207 (-)	NCBI

RefSeq Acc Id:

XM_047416697 ⟹ XP_047272653

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,225,432 - 54,405,328 (-)	NCBI

RefSeq Acc Id:

XM_054335740 ⟹ XP_054191715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	54,108,317 - 54,288,125 (-)	NCBI

RefSeq Acc Id:

XM_054335741 ⟹ XP_054191716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	54,108,317 - 54,288,194 (-)	NCBI

RefSeq Acc Id:

XM_054335742 ⟹ XP_054191717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	54,108,317 - 54,219,239 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001009955	(Get FASTA)	NCBI Sequence Viewer
	NP_001381289	(Get FASTA)	NCBI Sequence Viewer
	NP_001381290	(Get FASTA)	NCBI Sequence Viewer
	NP_001381291	(Get FASTA)	NCBI Sequence Viewer
	NP_001381292	(Get FASTA)	NCBI Sequence Viewer
	NP_001381293	(Get FASTA)	NCBI Sequence Viewer
	NP_001381294	(Get FASTA)	NCBI Sequence Viewer
	NP_001381295	(Get FASTA)	NCBI Sequence Viewer
	NP_001381296	(Get FASTA)	NCBI Sequence Viewer
	NP_060540	(Get FASTA)	NCBI Sequence Viewer
	NP_663768	(Get FASTA)	NCBI Sequence Viewer
	XP_016856386	(Get FASTA)	NCBI Sequence Viewer
	XP_016856387	(Get FASTA)	NCBI Sequence Viewer
	XP_047272648	(Get FASTA)	NCBI Sequence Viewer
	XP_047272649	(Get FASTA)	NCBI Sequence Viewer
	XP_047272651	(Get FASTA)	NCBI Sequence Viewer
	XP_047272653	(Get FASTA)	NCBI Sequence Viewer
	XP_054191715	(Get FASTA)	NCBI Sequence Viewer
	XP_054191716	(Get FASTA)	NCBI Sequence Viewer
	XP_054191717	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH03605	(Get FASTA)	NCBI Sequence Viewer
	AAH04335	(Get FASTA)	NCBI Sequence Viewer
	AAH66365	(Get FASTA)	NCBI Sequence Viewer
	AAI27867	(Get FASTA)	NCBI Sequence Viewer
	AAK21984	(Get FASTA)	NCBI Sequence Viewer
	AAK21985	(Get FASTA)	NCBI Sequence Viewer
	AAM22101	(Get FASTA)	NCBI Sequence Viewer
	BAA91561	(Get FASTA)	NCBI Sequence Viewer
	BAF82163	(Get FASTA)	NCBI Sequence Viewer
	CAE89185	(Get FASTA)	NCBI Sequence Viewer
	EAX06688	(Get FASTA)	NCBI Sequence Viewer
	EAX06689	(Get FASTA)	NCBI Sequence Viewer
	EAX06690	(Get FASTA)	NCBI Sequence Viewer
	EAX06691	(Get FASTA)	NCBI Sequence Viewer
	EAX06692	(Get FASTA)	NCBI Sequence Viewer
	EAX06693	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350067
	ENSP00000350067.4
	ENSP00000360370
	ENSP00000360370.3
	ENSP00000405880.1
	ENSP00000414361
	ENSP00000414361.2
	ENSP00000431654.1
	ENSP00000479674
	ENSP00000479674.2
GenBank Protein	Q9BWW4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001009955 ⟸ NM_001009955
- Peptide Label:	isoform c
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFAKGKGSAVPSDGQAREKLALYVYEYLLHVGAQKSAQTFLSEIRWEKNITLGEPPGFLHSWWC VFWDLYCAAPERRDTCEHSSEAKAFHDYSAAAAPSPVLGNIPPNDGMPGGPIPPGFFQPFMSPR YAGGPRPPIRMGNQPPGGVPGTQPLLPNSMDPTRQQGHPNMGGSMQRMNPPRGMGPMGPGPQNY GSGMRPPPNSLGPAMPGINMGPGAGRPWPNPNSANSIPYSSSSPGTYVGPPGGGGPPGTPIMPS PADSTNSSDNIYTMINPVPPGGSRSNFPMGPGSDGPMGGMGGMEPHHMNGSLGSGDIDGLPKNS PNNISGISNPPGTPRDDGELGGNFLHSFQNDNYSPSMTMSV hide sequence

RefSeq Acc Id:	NP_060540 ⟸ NM_018070
- Peptide Label:	isoform b
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFAKGKGSAVPSDGQAREKLALYVYEYLLHVGAQKSAQTFLSEIRWEKNITLGEPPGFLHSWWC VFWDLYCAAPERRDTCEHSSEAKAFHDYSAAAAPSPVLGNIPPNDGMPGGPIPPGFFQGPPGSQ PSPHAQPPPHNPSSMMGPHSQPPGGVPGTQPLLPNSMDPTRQQGHPNMGGSMQRMNPPRGMGPM GPGPQNYGSGMRPPPNSLGPAMPGINMGPGAGRPWPNPNSANSIPYSSSSPGTYVGPPGGGGPP GTPIMPSPADSTNSSDNIYTMINPVPPGGSRSNFPMGPGSDGPMGGMGGMEPHHMNGSLGSGDI DGLPKNSPNNISGISNPPGTPRDDGELGGNFLHSFQNDNYSPSMTMSV hide sequence

RefSeq Acc Id:	NP_663768 ⟸ NM_145716
- Peptide Label:	isoform a
- UniProtKB:	Q9BTM0 (UniProtKB/Swiss-Prot), Q5T861 (UniProtKB/Swiss-Prot), Q5T860 (UniProtKB/Swiss-Prot), A8K0A9 (UniProtKB/Swiss-Prot), Q9BWW3 (UniProtKB/Swiss-Prot), Q9BWW4 (UniProtKB/Swiss-Prot), A0A087WVT6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFAKGKGSAVPSDGQAREKLALYVYEYLLHVGAQKSAQTFLSEIRWEKNITLGEPPGFLHSWWC VFWDLYCAAPERRDTCEHSSEAKAFHDYSAAAAPSPVLGNIPPNDGMPGGPIPPGFFQGPPGSQ PSPHAQPPPHNPSSMMGPHSQPFMSPRYAGGPRPPIRMGNQPPGGVPGTQPLLPNSMDPTRQQG HPNMGGSMQRMNPPRGMGPMGPGPQNYGSGMRPPPNSLGPAMPGINMGPGAGRPWPNPNSANSI PYSSSSPGTYVGPPGGGGPPGTPIMPSPADSTNSSDNIYTMINPVPPGGSRSNFPMGPGSDGPM GGMGGMEPHHMNGSLGSGDIDGLPKNSPNNISGISNPPGTPRDDGELGGNFLHSFQNDNYSPSM TMSV hide sequence

RefSeq Acc Id:	XP_016856386 ⟸ XM_017000897
- Peptide Label:	isoform X1
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPGGPIPPGFFQGPPGSQPSPHAQPPPHNPSSMMGPHSQPFMSPRYAGGPRPPIRMGNQPPGGV PGTQPLLPNSMDPTRQQGHPNMGGSMQRMNPPRGMGPMGPGPQNYGSGMRPPPNSLGPAMPGIN MGPGAGRPWPNPNSANSIPYSSSSPGTYVGPPGGGGPPGTPIMPSPADSTNSSDNIYTMINPVP PGGSRSNFPMGPGSDGPMGGMGGMEPHHMNGSLGSGDIDGLPKNSPNNISGISNPPGTPRDDGE LGGNFLHSFQNDNYSPSMTMSV hide sequence

RefSeq Acc Id:	XP_016856387 ⟸ XM_017000898
- Peptide Label:	isoform X1
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPGGPIPPGFFQGPPGSQPSPHAQPPPHNPSSMMGPHSQPFMSPRYAGGPRPPIRMGNQPPGGV PGTQPLLPNSMDPTRQQGHPNMGGSMQRMNPPRGMGPMGPGPQNYGSGMRPPPNSLGPAMPGIN MGPGAGRPWPNPNSANSIPYSSSSPGTYVGPPGGGGPPGTPIMPSPADSTNSSDNIYTMINPVP PGGSRSNFPMGPGSDGPMGGMGGMEPHHMNGSLGSGDIDGLPKNSPNNISGISNPPGTPRDDGE LGGNFLHSFQNDNYSPSMTMSV hide sequence

RefSeq Acc Id:

ENSP00000360370 ⟸ ENST00000371319

RefSeq Acc Id:

ENSP00000360371 ⟸ ENST00000371320

RefSeq Acc Id:

ENSP00000479674 ⟸ ENST00000610401

RefSeq Acc Id:

ENSP00000414361 ⟸ ENST00000417664

RefSeq Acc Id:

ENSP00000405880 ⟸ ENST00000444533

RefSeq Acc Id:

ENSP00000431654 ⟸ ENST00000525990

RefSeq Acc Id:

ENSP00000350067 ⟸ ENST00000357475

RefSeq Acc Id:	NP_001381294 ⟸ NM_001394365
- Peptide Label:	isoform i
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381295 ⟸ NM_001394366
- Peptide Label:	isoform i
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381293 ⟸ NM_001394364
- Peptide Label:	isoform h
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381296 ⟸ NM_001394367
- Peptide Label:	isoform j
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381290 ⟸ NM_001394361
- Peptide Label:	isoofrm e
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381291 ⟸ NM_001394362
- Peptide Label:	isosform f
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381292 ⟸ NM_001394363
- Peptide Label:	isoform g
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381289 ⟸ NM_001394360
- Peptide Label:	isoform d
- UniProtKB:	A0A087WVT6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047272653 ⟸ XM_047416697
- Peptide Label:	isoform X2
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047272651 ⟸ XM_047416695
- Peptide Label:	isoform X3
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047272649 ⟸ XM_047416693
- Peptide Label:	isoform X2
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047272648 ⟸ XM_047416692
- Peptide Label:	isoform X1
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054191716 ⟸ XM_054335741
- Peptide Label:	isoform X2
- UniProtKB:	Q9BT57 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054191715 ⟸ XM_054335740
- Peptide Label:	isoform X1
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054191717 ⟸ XM_054335742
- Peptide Label:	isoform X1
- UniProtKB:	Q9NW25 (UniProtKB/TrEMBL)

Protein Domains

LisH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BWW4-F1-model_v2	AlphaFold	Q9BWW4	1-388	view protein structure

Promoters

RGD ID:

6855630

Promoter ID:

EPDNEW_H980

Type:

initiation region

Name:

SSBP3_3

Description:

single stranded DNA binding protein 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H981 EPDNEW_H982

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,406,154 - 54,406,214	EPDNEW

RGD ID:

6855632

Promoter ID:

EPDNEW_H981

Type:

initiation region

Name:

SSBP3_1

Description:

single stranded DNA binding protein 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H980 EPDNEW_H982

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,406,394 - 54,406,454	EPDNEW

RGD ID:

6855634

Promoter ID:

EPDNEW_H982

Type:

initiation region

Name:

SSBP3_2

Description:

single stranded DNA binding protein 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H980 EPDNEW_H981

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	54,413,474 - 54,413,534	EPDNEW

RGD ID:

6786932

Promoter ID:

HG_KWN:2837

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3

Transcripts:

UC001CXD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	54,467,271 - 54,468,027 (-)	MPROMDB

RGD ID:

6809726

Promoter ID:

HG_ACW:2218

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

SSBP3.EAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	54,594,836 - 54,595,336 (-)	MPROMDB

RGD ID:

6809727

Promoter ID:

HG_ACW:2223

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

SSBP3.HAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	54,643,416 - 54,643,916 (-)	MPROMDB

RGD ID:

6786929

Promoter ID:

HG_KWN:2844

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_001009955, OTTHUMT00000022721, UC001CXF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	54,644,791 - 54,645,592 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15674	AgrOrtholog
COSMIC	SSBP3	COSMIC
Ensembl Genes	ENSG00000157216	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000326956	ENTREZGENE
	ENST00000357475	ENTREZGENE
	ENST00000357475.9	UniProtKB/Swiss-Prot
	ENST00000371319	ENTREZGENE
	ENST00000371319.8	UniProtKB/Swiss-Prot
	ENST00000417664	ENTREZGENE
	ENST00000417664.7	UniProtKB/TrEMBL
	ENST00000444533.5	UniProtKB/TrEMBL
	ENST00000525990.1	UniProtKB/TrEMBL
	ENST00000610401	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000610401.6	UniProtKB/Swiss-Prot
GTEx	ENSG00000157216	GTEx
HGNC ID	HGNC:15674	ENTREZGENE
Human Proteome Map	SSBP3	Human Proteome Map
InterPro	LisH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSDP_DNA-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:23648	UniProtKB/Swiss-Prot
NCBI Gene	23648	ENTREZGENE
OMIM	607390	OMIM
PANTHER	SINGLE STRANDED DNA BINDING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SINGLE-STRANDED DNA-BINDING PROTEIN 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	SSDP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38017	PharmGKB
PRINTS	SSDNABINDING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	LISH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	LisH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WVT6	ENTREZGENE, UniProtKB/TrEMBL
	A8K0A9	ENTREZGENE
	E9PK49_HUMAN	UniProtKB/TrEMBL
	Q5T860	ENTREZGENE
	Q5T861	ENTREZGENE
	Q5T863_HUMAN	UniProtKB/TrEMBL
	Q9BT57	ENTREZGENE, UniProtKB/TrEMBL
	Q9BTM0	ENTREZGENE
	Q9BWW3	ENTREZGENE
	Q9BWW4	ENTREZGENE
	Q9NW25	ENTREZGENE, UniProtKB/TrEMBL
	SSBP3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K0A9	UniProtKB/Swiss-Prot
	Q5T860	UniProtKB/Swiss-Prot
	Q5T861	UniProtKB/Swiss-Prot
	Q9BTM0	UniProtKB/Swiss-Prot
	Q9BWW3	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar