AASDH (aminoadipate-semialdehyde dehydrogenase)

Gene: AASDH (aminoadipate-semialdehyde dehydrogenase) Homo sapiens

Analyze

Symbol:

AASDH

Name:

aminoadipate-semialdehyde dehydrogenase

RGD ID:

1606160

HGNC Page

HGNC:23993

Description:

Predicted to enable acid-thiol ligase activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within amino acid activation for nonribosomal peptide biosynthetic process and beta-alanine metabolic process. Predicted to be located in membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

2-aminoadipic 6-semialdehyde dehydrogenase; ACSF4; acyl-CoA synthetase family member 4; beta-alanine-activating enzyme; LYS2; non-ribosomal peptide synthetase 1098; non-ribosomal peptide synthetase 998; NRPS1098; NRPS998

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	4	56,338,290 - 56,387,491 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	56,338,287 - 56,387,508 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	57,204,456 - 57,253,657 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	56,899,213 - 56,948,395 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	54,710,829 - 54,760,021 (-)	NCBI		Celera
Cytogenetic Map	4	q12	NCBI
HuRef	4	53,158,378 - 53,207,773 (-)	NCBI		HuRef
CHM1_1	4	57,239,570 - 57,288,751 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	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

congenital disorder of glycosylation type IIk (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

17alpha-ethynylestradiol (ISO)

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

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-pinene (EXP)

aristolochic acid A (EXP)

atrazine (EXP)

bisphenol A (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

dicrotophos (EXP)

fenthion (ISO)

gallic acid (EXP)

methidathion (ISO)

methimazole (ISO)

ozone (EXP)

paracetamol (ISO)

potassium chromate (EXP)

potassium dichromate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

quercetin (EXP)

Soman (ISO)

sunitinib (EXP)

tetraphene (ISO)

thioacetamide (ISO)

triptonide (ISO)

troglitazone (ISO)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amino acid activation for nonribosomal peptide biosynthetic process (IEA,ISO)

beta-alanine metabolic process (IEA,ISO)

fatty acid metabolic process (IEA,ISS)

lipid metabolic process (IEA)

Cellular Component

membrane (IEA)

Molecular Function

acid-thiol ligase activity (ISS)

ATP binding (IEA)

ligase activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11230166	PMID:12477932	PMID:12712191	PMID:15198809	PMID:15865210	PMID:17762044	PMID:21873635	PMID:24467666	PMID:26496610	PMID:28065597	PMID:28514442	PMID:30021884
PMID:33961781	PMID:37689310

Genomics

Comparative Map Data

AASDH
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	56,338,287 - 56,387,508 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	57,204,456 - 57,253,657 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	56,899,213 - 56,948,395 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	54,710,829 - 54,760,021 (-)	NCBI		Celera
Cytogenetic Map	4	q12	NCBI
HuRef	4	53,158,378 - 53,207,773 (-)	NCBI		HuRef
CHM1_1	4	57,239,570 - 57,288,751 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI		T2T-CHM13v2.0

Aasdh
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	77,021,506 - 77,053,376 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	77,021,506 - 77,053,361 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	76,873,659 - 76,905,529 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	76,873,659 - 76,905,514 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	77,304,960 - 77,334,539 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	77,950,713 - 77,993,728 (-)	NCBI		MGSCv36	mm8
Celera	5	74,152,121 - 74,182,004 (-)	NCBI		Celera
Cytogenetic Map	5	C3.3	NCBI
cM Map	5	41.45	NCBI

Aasdh
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	31,609,488 - 31,636,066 (+)	NCBI		GRCr8
mRatBN7.2	14	31,255,019 - 31,281,802 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	31,255,310 - 31,281,796 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	31,632,462 - 31,659,180 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	32,940,802 - 32,967,520 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	31,425,469 - 31,452,187 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	33,619,990 - 33,647,268 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	33,624,390 - 33,647,180 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	33,410,917 - 33,438,181 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	33,553,214 - 33,575,421 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	33,553,200 - 33,575,421 (+)	NCBI
Celera	14	30,569,108 - 30,595,707 (+)	NCBI		Celera
Cytogenetic Map	14	p11	NCBI

Aasdh
(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_004955447	14,622,728 - 14,648,005 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955447	14,623,532 - 14,648,121 (+)	NCBI	ChiLan1.0	ChiLan1.0

AASDH
(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	3	73,391,262 - 73,447,335 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	73,596,720 - 73,662,401 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	67,536,000 - 67,591,204 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	74,107,854 - 74,159,927 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	74,110,736 - 74,159,809 (+)	Ensembl	panpan1.1		panPan2

AASDH
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	48,574,839 - 48,611,770 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	48,572,220 - 48,611,775 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	48,465,553 - 48,502,540 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	49,189,413 - 49,226,415 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	49,186,794 - 49,226,403 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	48,861,363 - 48,898,350 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	48,390,337 - 48,427,317 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	49,336,285 - 49,373,201 (-)	NCBI		UU_Cfam_GSD_1.0

Aasdh
(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_024405285	27,707,855 - 27,739,043 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936482	18,558,943 - 18,590,297 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936482	18,558,789 - 18,591,709 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

AASDH
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	55,604,626 - 55,645,473 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	55,604,394 - 55,645,536 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	57,986,062 - 57,998,070 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

AASDH
(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	7	12,248,193 - 12,292,027 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	12,249,208 - 12,296,516 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666066	12,918,085 - 12,962,654 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Aasdh
(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_004624761	13,026,213 - 13,064,708 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624761	13,026,875 - 13,063,511 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in AASDH
41 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	copy number gain	See cases [RCV000050683]	Chr4:44356201..62245882 [GRCh38] Chr4:44358218..63111600 [GRCh37] Chr4:44052975..62794195 [NCBI36] Chr4:4p13-q13.1	pathogenic
GRCh38/hg38 4q12(chr4:56301201-56829410)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051598]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051598]\|See cases [RCV000051598]	Chr4:56301201..56829410 [GRCh38] Chr4:57167367..57695576 [GRCh37] Chr4:56862124..57390333 [NCBI36] Chr4:4q12	uncertain significance
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	copy number gain	See cases [RCV000051773]	Chr4:51899860..59984479 [GRCh38] Chr4:52766026..60850197 [GRCh37] Chr4:52460783..60532792 [NCBI36] Chr4:4q12-13.1	pathogenic
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	copy number gain	See cases [RCV000051771]	Chr4:51831622..66991489 [GRCh38] Chr4:52697788..67857207 [GRCh37] Chr4:52392545..67539802 [NCBI36] Chr4:4q12-13.2	pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	copy number gain	See cases [RCV000051772]	Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3	pathogenic
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	copy number loss	See cases [RCV000053265]	Chr4:52639018..59984479 [GRCh38] Chr4:53505185..60850197 [GRCh37] Chr4:53199942..60532792 [NCBI36] Chr4:4q12-13.1	pathogenic
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	copy number loss	See cases [RCV000053266]	Chr4:54198601..62270115 [GRCh38] Chr4:55064768..63135833 [GRCh37] Chr4:54759525..62818428 [NCBI36] Chr4:4q12-13.1	pathogenic
GRCh38/hg38 4q12(chr4:56248102-57218522)x4	copy number gain	See cases [RCV000137649]	Chr4:56248102..57218522 [GRCh38] Chr4:57114268..58084688 [GRCh37] Chr4:56809025..57779445 [NCBI36] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2612T>C (p.Ile871Thr)	single nucleotide variant	Inborn genetic diseases [RCV003245652]	Chr4:56345167 [GRCh38] Chr4:57211333 [GRCh37] Chr4:4q12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_181806.4(AASDH):c.386A>G (p.Tyr129Cys)	single nucleotide variant	Inborn genetic diseases [RCV003263501]	Chr4:56378430 [GRCh38] Chr4:57244596 [GRCh37] Chr4:4q12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q12(chr4:57036491-57206774)x1	copy number loss	not provided [RCV000682405]	Chr4:57036491..57206774 [GRCh37] Chr4:4q12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q12(chr4:57204960-57390650)x3	copy number gain	not provided [RCV000743590]	Chr4:57204960..57390650 [GRCh37] Chr4:4q12	benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q12(chr4:57067953-57957651)x3	copy number gain	not provided [RCV001005548]	Chr4:57067953..57957651 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2939T>C (p.Phe980Ser)	single nucleotide variant	Inborn genetic diseases [RCV003290211]	Chr4:56338760 [GRCh38] Chr4:57204926 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.181A>G (p.Ile61Val)	single nucleotide variant	not provided [RCV001680191]	Chr4:56384119 [GRCh38] Chr4:57250285 [GRCh37] Chr4:4q12	benign
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	copy number loss	Piebaldism [RCV001420508]	Chr4:51891814..76009719 [GRCh38] Chr4:4q12-21.1	pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	copy number loss	not provided [RCV001829079]	Chr4:52685685..58104722 [GRCh37] Chr4:4q11-12	pathogenic
NC_000004.11:g.(?_55124936)_(57798318_?)dup	duplication	TMEM165-congenital disorder of glycosylation [RCV003120758]\|not provided [RCV001944395]	Chr4:55124936..57798318 [GRCh37] Chr4:4q12	uncertain significance\|no classifications from unflagged records
NC_000004.11:g.(?_55124936)_(57368027_?)del	deletion	TMEM165-congenital disorder of glycosylation [RCV003119917]\|not provided [RCV003119918]	Chr4:55124936..57368027 [GRCh37] Chr4:4q12	pathogenic\|uncertain significance\|no classifications from unflagged records
NM_181806.4(AASDH):c.3152A>C (p.Glu1051Ala)	single nucleotide variant	Inborn genetic diseases [RCV003304158]	Chr4:56338547 [GRCh38] Chr4:57204713 [GRCh37] Chr4:4q12	uncertain significance
GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	copy number gain	not provided [RCV002473779]	Chr4:52685980..59272025 [GRCh37] Chr4:4q11-12	uncertain significance
NM_181806.4(AASDH):c.2815C>G (p.Pro939Ala)	single nucleotide variant	Inborn genetic diseases [RCV002752436]	Chr4:56342927 [GRCh38] Chr4:57209093 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.50G>A (p.Arg17Lys)	single nucleotide variant	Inborn genetic diseases [RCV002685246]	Chr4:56384250 [GRCh38] Chr4:57250416 [GRCh37] Chr4:4q12	likely benign
NM_181806.4(AASDH):c.2242A>T (p.Ile748Leu)	single nucleotide variant	Inborn genetic diseases [RCV002840274]	Chr4:56349509 [GRCh38] Chr4:57215675 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.3038A>G (p.Lys1013Arg)	single nucleotide variant	Inborn genetic diseases [RCV002860815]	Chr4:56338661 [GRCh38] Chr4:57204827 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1489A>G (p.Ile497Val)	single nucleotide variant	Inborn genetic diseases [RCV002752671]	Chr4:56353491 [GRCh38] Chr4:57219657 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1961A>C (p.Glu654Ala)	single nucleotide variant	Inborn genetic diseases [RCV002906826]	Chr4:56349790 [GRCh38] Chr4:57215956 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1104A>T (p.Lys368Asn)	single nucleotide variant	Inborn genetic diseases [RCV002945712]	Chr4:56354811 [GRCh38] Chr4:57220977 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.3106A>G (p.Met1036Val)	single nucleotide variant	Inborn genetic diseases [RCV002925203]	Chr4:56338593 [GRCh38] Chr4:57204759 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.218C>A (p.Ser73Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002845103]	Chr4:56384082 [GRCh38] Chr4:57250248 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2827T>C (p.Ser943Pro)	single nucleotide variant	Inborn genetic diseases [RCV002888537]	Chr4:56342915 [GRCh38] Chr4:57209081 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2201C>T (p.Pro734Leu)	single nucleotide variant	Inborn genetic diseases [RCV002950717]	Chr4:56349550 [GRCh38] Chr4:57215716 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1174T>C (p.Phe392Leu)	single nucleotide variant	Inborn genetic diseases [RCV002955516]	Chr4:56354741 [GRCh38] Chr4:57220907 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2209G>A (p.Val737Ile)	single nucleotide variant	Inborn genetic diseases [RCV002699014]	Chr4:56349542 [GRCh38] Chr4:57215708 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1742T>G (p.Leu581Arg)	single nucleotide variant	Inborn genetic diseases [RCV002874497]	Chr4:56350009 [GRCh38] Chr4:57216175 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.568C>G (p.His190Asp)	single nucleotide variant	Inborn genetic diseases [RCV002697495]	Chr4:56378248 [GRCh38] Chr4:57244414 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2259G>A (p.Met753Ile)	single nucleotide variant	Inborn genetic diseases [RCV002830286]	Chr4:56349492 [GRCh38] Chr4:57215658 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2641T>G (p.Leu881Val)	single nucleotide variant	Inborn genetic diseases [RCV002699015]	Chr4:56345138 [GRCh38] Chr4:57211304 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.2632G>A (p.Ala878Thr)	single nucleotide variant	Inborn genetic diseases [RCV002767422]	Chr4:56345147 [GRCh38] Chr4:57211313 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.424T>C (p.Phe142Leu)	single nucleotide variant	Inborn genetic diseases [RCV002742426]	Chr4:56378392 [GRCh38] Chr4:57244558 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1241A>G (p.Asp414Gly)	single nucleotide variant	Inborn genetic diseases [RCV002718758]	Chr4:56354181 [GRCh38] Chr4:57220347 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1190G>A (p.Gly397Asp)	single nucleotide variant	Inborn genetic diseases [RCV002936229]	Chr4:56354725 [GRCh38] Chr4:57220891 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.280C>T (p.Pro94Ser)	single nucleotide variant	Inborn genetic diseases [RCV002988951]	Chr4:56382548 [GRCh38] Chr4:57248714 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.3223G>C (p.Glu1075Gln)	single nucleotide variant	Inborn genetic diseases [RCV002878757]	Chr4:56338476 [GRCh38] Chr4:57204642 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.835T>G (p.Ser279Ala)	single nucleotide variant	Inborn genetic diseases [RCV002668773]	Chr4:56371477 [GRCh38] Chr4:57237643 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1636G>C (p.Glu546Gln)	single nucleotide variant	Inborn genetic diseases [RCV002835913]	Chr4:56351398 [GRCh38] Chr4:57217564 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1096A>C (p.Thr366Pro)	single nucleotide variant	Inborn genetic diseases [RCV003278467]	Chr4:56355189 [GRCh38] Chr4:57221355 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.35C>G (p.Ser12Cys)	single nucleotide variant	Inborn genetic diseases [RCV003203020]	Chr4:56384265 [GRCh38] Chr4:57250431 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.368A>G (p.His123Arg)	single nucleotide variant	Inborn genetic diseases [RCV003204635]	Chr4:56378448 [GRCh38] Chr4:57244614 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.1018A>C (p.Ile340Leu)	single nucleotide variant	Inborn genetic diseases [RCV003219610]	Chr4:56355267 [GRCh38] Chr4:57221433 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.335A>G (p.Glu112Gly)	single nucleotide variant	Inborn genetic diseases [RCV003307051]	Chr4:56382493 [GRCh38] Chr4:57248659 [GRCh37] Chr4:4q12	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
NM_181806.4(AASDH):c.772T>A (p.Ser258Thr)	single nucleotide variant	Inborn genetic diseases [RCV003376541]	Chr4:56371540 [GRCh38] Chr4:57237706 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.459G>T (p.Leu153Phe)	single nucleotide variant	Inborn genetic diseases [RCV003373343]	Chr4:56378357 [GRCh38] Chr4:57244523 [GRCh37] Chr4:4q12	uncertain significance
NM_181806.4(AASDH):c.3190C>T (p.Pro1064Ser)	single nucleotide variant	Inborn genetic diseases [RCV003354002]	Chr4:56338509 [GRCh38] Chr4:57204675 [GRCh37] Chr4:4q12	uncertain significance
GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	copy number loss	not provided [RCV003485416]	Chr4:52685685..61903883 [GRCh37] Chr4:4q11-13.1	pathogenic
NM_181806.4(AASDH):c.963G>A (p.Ala321=)	single nucleotide variant	not provided [RCV003439317]	Chr4:56355322 [GRCh38] Chr4:57221488 [GRCh37] Chr4:4q12	likely benign
NM_181806.4(AASDH):c.668G>T (p.Arg223Leu)	single nucleotide variant	not provided [RCV003435020]	Chr4:56378148 [GRCh38] Chr4:57244314 [GRCh37] Chr4:4q12	likely benign
NM_181806.4(AASDH):c.973T>C (p.Leu325=)	single nucleotide variant	not provided [RCV003439316]	Chr4:56355312 [GRCh38] Chr4:57221478 [GRCh37] Chr4:4q12	likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2364
Count of miRNA genes:	896
Interacting mature miRNAs:	1049
Transcripts:	ENST00000205214, ENST00000434343, ENST00000451613, ENST00000502617, ENST00000503808, ENST00000510012, ENST00000510762, ENST00000513376, ENST00000514745, ENST00000514796, ENST00000602986
Prediction methods:	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

D4S3000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	57,247,778 - 57,247,930	UniSTS	GRCh37
Build 36	4	56,942,535 - 56,942,687	RGD	NCBI36
Celera	4	54,754,142 - 54,754,310	RGD
Cytogenetic Map	4	q12	UniSTS
HuRef	4	53,201,890 - 53,202,058	UniSTS
Marshfield Genetic Map	4	68.94	RGD
Marshfield Genetic Map	4	68.94	UniSTS
Genethon Genetic Map	4	67.7	UniSTS
deCODE Assembly Map	4	71.58	UniSTS
Whitehead-YAC Contig Map	4		UniSTS

AB050266

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	57,204,824 - 57,204,930	UniSTS	GRCh37
Build 36	4	56,899,581 - 56,899,687	RGD	NCBI36
Celera	4	54,711,201 - 54,711,307	RGD
HuRef	4	53,158,750 - 53,158,856	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

141

682

679

1258

1091

635

674

747

Low

2298

2844

1044

598

1199

446

3099

2097

2643

345

825

939

161

1118

2041

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_046885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001286672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001323899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_181806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017007740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017007741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017007742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017007743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017007744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047449614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047449615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054348939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054348940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054348941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054348942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA743758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC068620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF516672	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316296	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY314787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY422212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC141824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC142709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX640635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC306784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000205214 ⟹ ENSP00000205214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,290 - 56,387,491 (-)	Ensembl

RefSeq Acc Id:

ENST00000451613 ⟹ ENSP00000409656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,287 - 56,387,508 (-)	Ensembl

RefSeq Acc Id:

ENST00000502617 ⟹ ENSP00000421171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,348,928 - 56,387,500 (-)	Ensembl

RefSeq Acc Id:

ENST00000503808 ⟹ ENSP00000421658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,605 - 56,387,459 (-)	Ensembl

RefSeq Acc Id:

ENST00000510012

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,381,759 - 56,387,472 (-)	Ensembl

RefSeq Acc Id:

ENST00000510762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,355,300 - 56,387,458 (-)	Ensembl

RefSeq Acc Id:

ENST00000513376 ⟹ ENSP00000423760

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,290 - 56,387,423 (-)	Ensembl

RefSeq Acc Id:

ENST00000514745 ⟹ ENSP00000427298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,293 - 56,387,469 (-)	Ensembl

RefSeq Acc Id:

ENST00000514796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,382,424 - 56,384,299 (-)	Ensembl

RefSeq Acc Id:

ENST00000602986 ⟹ ENSP00000473564

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	56,338,287 - 56,387,508 (-)	Ensembl

RefSeq Acc Id:

NM_001286668 ⟹ NP_001273597

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCACCACCGTCATTATCAA
CTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAAAACAAATTAATAAATT
TAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGAACATAATGACCTAGTG
CTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAATGATGGAAAAGAGAAAT
ATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAGAAAAAGCAGAAGAACA
CATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATCAGGGACTACAGGGATA
CCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAGCATTTTCGGGTACTTT
TTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCTTCGATCCTTCTGTTGT
GGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACCAACTTCCGTCAAGTTG
CTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACTGTTTTGCAGGCAACAC
CAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTTTGTCAGCCACTACTTC
TCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGTTCTCAGAAGCTGGAGA
GGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAGGTATCAAGTTGGGCGA
CCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTGAATTGCCTGTACAACT
GGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGGCTTCACAATTCAGGAA
GGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTTGATGATGAAGTGACAG
TACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAGATGGAGAGATTTTTTT
TTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAACATTGAACTTGTGCAA
CAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGGTATAATCAGGAAAAAT
TAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCTTTAAAGAACTGCAGAA
ATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTCTCTACCATTTACATCC
CACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTACATAAACTTGAAGTCTG
AGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATTTGTGGAAGTCTACTCT
GAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTTAAATAGTGGTGGAGAT
TCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGTACATCAGTACCTGGGC
TTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACATCCTTCAAACAGTGGT
TCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAAACTCAGCGACATTAAT
CAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACTTTCACTTGCCACAATG
AGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTCTGAATTCCACTAGGTT
TTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGTTTCACAGACCAACATT
CAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAAGATCCATCCTGTGTTG
CAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGGAGTTACATGTGAGGTG
GAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAATACCCACTTTTGATAAG
TCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCAGTTGACTTTTACTCTG
GGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAGCATGTGTATCTAAGTG
TGGAAACTTTATTGTGGTGGGCTGTTATAATGGATTAGTTTATGTTCTGAAAAGTAATAGTGGA
GAAAAATACTGGATGTTTACTACTGAAGATGCTGTCAAAAGCTCGGCAACCATGGATCCAACCA
CAGGACTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAGATATTTATAGAAAGAA
GTGTGTTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCA
CATCATTTGTATTTTGCTACATTGGGAGGACTTTTACTGGCTGTAAATCCTGCTACTGGGAACG
TTATTTGGAAACATTCCTGTGGAAAACCACTCTTCTCTTCCCCACAATGTTGCTCACAGTATAT
TTGTATTGGCTGTGTAGATGGGAATTTACTCTGCTTTACTCACTTTGGAGAACAGGTTTGGCAG
TTCTCTACCAGTGGACCAATCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTT
TTGGTTCCCATGATTGCTTTATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGA
AACTACTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGAAATG
TTGCTGGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGC
AAAGTGTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCAT
TATTGGGTGTAGAGATAATTATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCA
AATACAGTCCTTATTTGTATAACAAATGTGAGATATTTGAAAATATTTTACCATTATACATCAT
GTGGACTTATTTTATATTAAAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001286669 ⟹ NP_001273598

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTA
CAGTGGAACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGAT
GCTAAATGATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTC
AATGAAGAAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTAC
ATACATCAGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAA
TATCCAGCATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCT
CTGACCTTCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTA
TTGTACCAACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAG
AGTGACTGTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCA
ACTGTTTTGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCAT
TGACAGTTCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTAT
CACAGAGGTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTC
AAATGTGAATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATA
CTAATGGCTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTG
TTTTCTTGATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACT
GTGAAAGATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAAC
GTCTTAACATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGT
TACATGGTATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAA
TACATCTTTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGA
TCGACTCTCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTT
AAACTACATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTA
CAGTATTTGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCAC
TCTTCTTAAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACT
TGTTGGTACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTAT
AATCACATCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAA
AAAGGAAACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCAT
CATGACTTTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATT
TTGTCTCTGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTG
ACTCAGTTTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAA
GTCAAAAGATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAG
AAAATGGAGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGG
TTGTAATACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAAT
GAAGGCAGTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAA
TCCTCAGCATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGGCTGTTATAATGGATTAGTTT
ATGTTCTGAAAAGTAATAGTGGAGAAAAATACTGGATGTTTACTACTGAAGATGCTGTCAAAAG
CTCGGCAACCATGGATCCAACCACAGGACTCATTTACATTGGATCTCATGACCAGCACGCATAT
GCTTTAGATATTTATAGAAAGAAGTGTGTTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCT
CTCCGTGTTTGAACCTGATTCCACATCATTTGTATTTTGCTACATTGGGAGGACTTTTACTGGC
TGTAAATCCTGCTACTGGGAACGTTATTTGGAAACATTCCTGTGGAAAACCACTCTTCTCTTCC
CCACAATGTTGCTCACAGTATATTTGTATTGGCTGTGTAGATGGGAATTTACTCTGCTTTACTC
ACTTTGGAGAACAGGTTTGGCAGTTCTCTACCAGTGGACCAATCTTTTCATCCCCGTGTACCTC
ACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGATTGCTTTATCTACTGTTGTAACATGAAA
GGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATA
ACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTT
GGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCT
GTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGAGATAATTATGTTTATTGTCTGGATTTAT
TGGGTGGCAATCAAAAATAATCAAATACAGTCCTTATTTGTATAACAAATGTGAGATATTTGAA
AATATTTTACCATTATACATCATGTGGACTTATTTTATATTAAAGAAGATTATATTTTGGCTAA
GAAA

hide sequence

RefSeq Acc Id:

NM_001286670 ⟹ NP_001273599

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGA
CCTTCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGT
ACCAACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTG
ACTGTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTG
TTTTGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGAC
AGTTCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACA
GAGGTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAGT
TGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGGTATAATCAGGAAAAATTAATT
CTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCTTTAAAGAACTGCAGAAATATC
TTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTCTCTACCATTTACATCCCACGG
CAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTACATAAACTTGAAGTCTGAGAAT
AAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATTTGTGGAAGTCTACTCTGAATC
TCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTTAAATAGTGGTGGAGATTCCTT
AAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGTACATCAGTACCTGGGCTTCTG
GAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACATCCTTCAAACAGTGGTTCCAG
ATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAAACTCAGCGACATTAATCAAGA
GGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACTTTCACTTGCCACAATGAGATT
AATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTCTGAATTCCACTAGGTTTTTAA
CAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGTTTCACAGACCAACATTCAAAA
TTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAAGATCCATCCTGTGTTGCAAAA
GTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGGAGTTACATGTGAGGTGGAGGT
CAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAATACCCACTTTTGATAAGTCATC
TACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCAGTTGACTTTTACTCTGGGAAG
GTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAGCATGTGTATCTAAGTGTGGAA
ACTTTATTGTGGTGGGCTGTTATAATGGATTAGTTTATGTTCTGAAAAGTAATAGTGGAGAAAA
ATACTGGATGTTTACTACTGAAGATGCTGTCAAAAGCTCGGCAACCATGGATCCAACCACAGGA
CTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAGATATTTATAGAAAGAAGTGTG
TTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCACATCA
TTTGTATTTTGCTACATTGGGAGGACTTTTACTGGCTGTAAATCCTGCTACTGGGAACGTTATT
TGGAAACATTCCTGTGGAAAACCACTCTTCTCTTCCCCACAATGTTGCTCACAGTATATTTGTA
TTGGCTGTGTAGATGGGAATTTACTCTGCTTTACTCACTTTGGAGAACAGGTTTGGCAGTTCTC
TACCAGTGGACCAATCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGT
TCCCATGATTGCTTTATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTA
CTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGAAATGTTGCT
GGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGT
GTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTG
GGTGTAGAGATAATTATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCAAATAC
AGTCCTTATTTGTATAACAAATGTGAGATATTTGAAAATATTTTACCATTATACATCATGTGGA
CTTATTTTATATTAAAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001286671 ⟹ NP_001273600

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTG
AATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGG
CTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTT
GATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAG
ATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAA
CATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGG
TATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCT
TTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTC
TCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTAC
ATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATT
TGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTT
AAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGT
ACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACA
TCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAA
ACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACT
TTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTC
TGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGT
TTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAA
GATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
AGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAAT
ACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCA
GTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAG
CATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGGTTTGGCAGTTCTCTACCAGTGGACCAA
TCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGATTGCTT
TATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGGGTCTAT
GCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTA
CTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGAACTTCC
TGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGAGATAAT
TATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCAAATACAGTCCTTATTTGTA
TAACAAATGTGAGATATTTGAAAATATTTTACCATTATACATCATGTGGACTTATTTTATATTA
AAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001286672 ⟹ NP_001273601

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,348,947 - 56,387,491 (-)	NCBI
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,250,240 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,836,925 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTG
AATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGG
CTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTT
GATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAG
ATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAA
CATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGG
TATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCT
TTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTC
TCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTAC
ATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATT
TGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTT
AAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGT
ACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACA
TCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAA
ACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACT
TTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTC
TGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGT
TTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAA
GATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
AGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAAT
ACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCA
GTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAG
CATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGGTAAGTTTTTGAATTTGAGGTTTGTGGA
GTTAAATTGAATTACCATACAATAATCTTCATAGGCCCAAGTTAAATTTTTTAAAAATCTAAAT
ATGATGGGTTTGGTTGCTGTCCAAAAATTATAGTTAACCCTGTGCTGATTAATATTGTGGGCCT
TGGGGTCAAGAGTCCCTGGATTTGAACCTACCTGTATAGCTATTATGAACTCTGTGACCTTTGG
CAAGTTACTGAACCTCTTAGAATTTCACTTTCCTTGTGGGTAAAATGGGAATAATAATAAAATG
TGTTGCTGTATCACAAATACCCCAAAACTCAA

hide sequence

RefSeq Acc Id:

NM_001323890 ⟹ NP_001310819

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTG
AATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGG
CTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTT
GATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAG
ATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAA
CATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGG
TATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCT
TTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTC
TCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTAC
ATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATT
TGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTT
AAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGT
ACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACA
TCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAA
ACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACT
TTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTC
TGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGT
TTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAA
GATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
AGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAAT
ACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCA
GTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAG
CATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGAGACAGAGCTTCTGCGTGTTGTCCAGGC
TGGTCTCAAACTCCCGGGCTCAAGCGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACA
GGCGTGAGCCACCATGTCTGGCCTGGCTGTTATAATGGATTAGTTTATGTTCTGAAAAGTAATA
GTGGAGAAAAATACTGGATGTTTACTACTGAAGATGCTGTCAAAAGCTCGGCAACCATGGATCC
AACCACAGGACTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAGATATTTATAGA
AAGAAGTGTGTTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACCTGA
TTCCACATCATTTGTATTTTGCTACATTGGGAGGACTTTTACTGGCTGTAAATCCTGCTACTGG
GAACGTTATTTGGAAACATTCCTGTGGAAAACCACTCTTCTCTTCCCCACAATGTTGCTCACAG
TATATTTGTATTGGCTGTGTAGATGGGAATTTACTCTGCTTTACTCACTTTGGAGAACAGGTTT
GGCAGTTCTCTACCAGTGGACCAATCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAAT
ATTTTTTGGTTCCCATGATTGCTTTATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAA
TTTGAAACTACTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATG
AAATGTTGCTGGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACA
ATTGCAAAGTGTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATG
CTCATTATTGGGTGTAGAGATAATTATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAAT
AATCAAATACAGTCCTTATTTGTATAACAAATGTGAGATATTTGAAAATATTTTACCATTATAC
ATCATGTGGACTTATTTTATATTAAAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001323892 ⟹ NP_001310821

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTG
AATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGG
CTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTT
GATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAG
ATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAA
CATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGG
TATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCT
TTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTC
TCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTAC
ATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATT
TGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTT
AAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGT
ACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACA
TCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAA
ACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACT
TTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTC
TGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGT
TTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAA
GATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
AGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAAT
ACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCA
GTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAG
CATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGAGAAAGAAGTGTGTTTGGAAGTCAAAAT
GTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCACATCATTTGTATTTTGCTAC
ATTGGGAGGACTTTTACTGGCTGTAAATCCTGCTACTGGGAACGTTATTTGGAAACATTCCTGT
GGAAAACCACTCTTCTCTTCCCCACAATGTTGCTCACAGTATATTTGTATTGGCTGTGTAGATG
GGAATTTACTCTGCTTTACTCACTTTGGAGAACAGGTTTGGCAGTTCTCTACCAGTGGACCAAT
CTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGATTGCTTT
ATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGGGTCTATG
CAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTAC
TGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGAACTTCCT
GGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGAGATAATT
ATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCAAATACAGTCCTTATTTGTAT
AACAAATGTGAGATATTTGAAAATATTTTACCATTATACATCATGTGGACTTATTTTATATTAA
AGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001323893 ⟹ NP_001310822

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTA
CAGTGGAACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGAT
GCTAAATGATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTC
AATGAAGAAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTAC
ATACATCAGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAA
TATCCAGCATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCT
CTGACCTTCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTA
TTGTACCAACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAG
AGTGACTGTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCA
ACTGTTTTGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCAT
TGACAGTTCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTAT
CACAGAGGTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTC
AAATGTGAATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATA
CTAATGGCTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTG
TTTTCTTGATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACT
GTGAAAGATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAAC
GTCTTAACATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGT
TACATGGTATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAA
TACATCTTTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGA
TCGACTCTCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTT
AAACTACATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTA
CAGTATTTGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCAC
TCTTCTTAAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACT
TGTTGGTACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTAT
AATCACATCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAA
AAAGGAAACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCAT
CATGACTTTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATT
TTGTCTCTGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTG
ACTCAGTTTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAA
GTCAAAAGATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAG
AAAATGGAGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGG
TTGTAATACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAAT
GAAGGCAGTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAA
TCCTCAGCATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGAGAAAGAAGTGTGTTTGGAAG
TCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCACATCATTTGTATT
TTGCTACATTGGGAGGACTTTTACTGGCTGTAAATCCTGCTACTGGGAACGTTATTTGGAAACA
TTCCTGTGGAAAACCACTCTTCTCTTCCCCACAATGTTGCTCACAGTATATTTGTATTGGCTGT
GTAGATGGGAATTTACTCTGCTTTACTCACTTTGGAGAACAGGTTTGGCAGTTCTCTACCAGTG
GACCAATCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGA
TTGCTTTATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGG
GTCTATGCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAG
CATCTACTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGA
ACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGA
GATAATTATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCAAATACAGTCCTTA
TTTGTATAACAAATGTGAGATATTTGAAAATATTTTACCATTATACATCATGTGGACTTATTTT
ATATTAAAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_001323899 ⟹ NP_001310828

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAGTGGC
AGAAACAGAGTGTGTTTTCTTGATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAG
GAGACTTTGTGACTGTGAAAGATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAA
ACGTCATGGCAAACGTCTTAACATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTG
GAGTCTTGTGCAGTTACATGGTATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATG
CTTCAGTAAAAGAATACATCTTTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGA
TGAGCTTGTATTGATCGACTCTCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTA
AACAAGATATATTTAAACTACATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACC
TTTGGGAAAAATTACAGTATTTGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGT
TCCTGATGAGTCACTCTTCTTAAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGT
GAGATTGAAAAACTTGTTGGTACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCA
TTTTAGAGATTTATAATCACATCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAA
GAGTTGTGCCACAAAAAGGAAACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTA
CATCAGAAAGCCATCATGACTTTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCA
GAGGGAGTCAAATTTTGTCTCTGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTC
AGCCTGTCCTTCTGACTCAGTTTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCA
GTTCTTATTGGGAAGTCAAAAGATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTG
CGATAGGGACTCAGAAAATGGAGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGA
TGCTTCACCGCTGGTTGTAATACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCC
CATTCTCATAGAATGAAGGCAGTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGG
GAGATCGAATTGAATCCTCAGCATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGGCTGTTA
TAATGGATTAGTTTATGTTCTGAAAAGTAATAGTGGAGAAAAATACTGGATGTTTACTACTGAA
GATGCTGTCAAAAGCTCGGCAACCATGGATCCAACCACAGGACTCATTTACATTGGATCTCATG
ACCAGCACGCATATGCTTTAGATATTTATAGAAAGAAGTGTGTTTGGAAGTCAAAATGTGGAGG
AACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCACATCATTTGTATTTTGCTACATTGGGA
GGACTTTTACTGGCTGTAAATCCTGCTACTGGGAACGTTATTTGGAAACATTCCTGTGGAAAAC
CACTCTTCTCTTCCCCACAATGTTGCTCACAGTATATTTGTATTGGCTGTGTAGATGGGAATTT
ACTCTGCTTTACTCACTTTGGAGAACAGGTTTGGCAGTTCTCTACCAGTGGACCAATCTTTTCA
TCCCCGTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGATTGCTTTATCTACT
GTTGTAACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGGGTCTATGCAACACC
GTTTGCTTTCCATAACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTACTGATGGG
AAAGTGTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGAACTTCCTGGAGAAG
TCTTCTCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGAGATAATTATGTTTA
TTGTCTGGATTTATTGGGTGGCAATCAAAAATAATCAAATACAGTCCTTATTTGTATAACAAAT
GTGAGATATTTGAAAATATTTTACCATTATACATCATGTGGACTTATTTTATATTAAAGAAGAT
TATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

NM_181806 ⟹ NP_861522

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI
GRCh37	4	57,204,450 - 57,254,265 (-)	NCBI
Build 36	4	56,899,213 - 56,948,395 (-)	NCBI Archive
Celera	4	54,710,829 - 54,760,021 (-)	RGD
HuRef	4	53,158,372 - 53,207,809 (-)	NCBI
CHM1_1	4	57,239,564 - 57,288,787 (-)	NCBI
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

Sequence:

show sequence

ACGTATGGTGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAA
GTATCCGCGACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCT
AAGGTTCTGTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGT
GCATAAGGCTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAG
CTTCCAGTTTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGC
TGTTACACTGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTT
ACCCTCTTGGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCA
CCACCGTCATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAA
AACAAATTAATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGA
ACATAATGACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAAT
GATGGAAAAGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAG
AAAAAGCAGAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATC
AGGGACTACAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAG
CATTTTCGGGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCT
TCGATCCTTCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACC
AACTTCCGTCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACT
GTTTTGCAGGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTT
TGTCAGCCACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGT
TCTCAGAAGCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAG
GTATCAAGTTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTG
AATTGCCTGTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGG
CTTCACAATTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTT
GATGATGAAGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAG
ATGGAGAGATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAA
CATTGAACTTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGG
TATAATCAGGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCT
TTAAAGAACTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTC
TCTACCATTTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTAC
ATAAACTTGAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATT
TGTGGAAGTCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTT
AAATAGTGGTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGT
ACATCAGTACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACA
TCCTTCAAACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAA
ACTCAGCGACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACT
TTCACTTGCCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTC
TGAATTCCACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGT
TTCACAGACCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAA
GATCCATCCTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
AGTTACATGTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAAT
ACCCACTTTTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCA
GTTGACTTTTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAG
CATGTGTATCTAAGTGTGGAAACTTTATTGTGGTGGGCTGTTATAATGGATTAGTTTATGTTCT
GAAAAGTAATAGTGGAGAAAAATACTGGATGTTTACTACTGAAGATGCTGTCAAAAGCTCGGCA
ACCATGGATCCAACCACAGGACTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAG
ATATTTATAGAAAGAAGTGTGTTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTG
TTTGAACCTGATTCCACATCATTTGTATTTTGCTACATTGGGAGGACTTTTACTGGCTGTAAAT
CCTGCTACTGGGAACGTTATTTGGAAACATTCCTGTGGAAAACCACTCTTCTCTTCCCCACAAT
GTTGCTCACAGTATATTTGTATTGGCTGTGTAGATGGGAATTTACTCTGCTTTACTCACTTTGG
AGAACAGGTTTGGCAGTTCTCTACCAGTGGACCAATCTTTTCATCCCCGTGTACCTCACCATCA
GAGCAAAAAATATTTTTTGGTTCCCATGATTGCTTTATCTACTGTTGTAACATGAAAGGTCACC
TGCAGTGGAAATTTGAAACTACTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATAACTACAA
TGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTTGGAATCT
CAGAGTGGACAATTGCAAAGTGTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCC
TGGAATCAATGCTCATTATTGGGTGTAGAGATAATTATGTTTATTGTCTGGATTTATTGGGTGG
CAATCAAAAATAATCAAATACAGTCCTTATTTGTATAACAAATGTGAGATATTTGAAAATATTT
TACCATTATACATCATGTGGACTTATTTTATATTAAAGAAGATTATATTTTGGCTAAGAAA

hide sequence

RefSeq Acc Id:

XM_017007740 ⟹ XP_016863229

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI

Sequence:

show sequence

ATTCAGGCATATAGTTTACAAAACTCCACCTCGGACCTGCTTTAATTTCTTTACAGGTCCTACT
AAATGCTCCTGTCAAATTCCTTAGTTATCGTTTCAATCTGCTTCCCAATTAAAATGTCAGCATC
ATGATGACAGGAACGTCGTTTGCAGGCGTCACTGCTGCAGCCATATCTCCAGCACGTTTCCAGA
AAATGTCATTGGTTGAAAGCAATAACTCTCCTATTTCACAATGATTTCATCTCTCTTCACATCA
ACCCTAGGTGATGTTTTTATTCTCACCTTATGAACGAGAATACTGCGGCTCAAAATTCAAGAGT
CTTGCCCAGAGTTTTTTGGCAAGTACGAAAGGGTTATGGCTCCAAACTGGTTAGCTCCGAAGTC
CTTGCAAACCCTGTCCGAGACCATGCGCGACCCCAAGGAGCGCCTGAGCAGATAACCAAAAGTG
AAAAAGCCTATAGACCTCTTCACTCAAGTTAGCGCCTCGGCTTCAGGAGAGGCAGCGCCAGCTC
CACGCAGCCGGCCCGGGGTCGCTCGCACTGACGTCACGTAGCGACGCGGAAGATTTACGTATGG
TGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAAGTATCCGC
GACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCTAAGGTTCT
GTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGTGCATAAGG
CTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAGCTTCCAGT
TTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGCTGTTACAC
TGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTTACCCTCTT
GGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCACCACCGTC
ATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAAAACAAATT
AATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGAACATAATG
ACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAATGATGGAAA
AGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAGAAAAAGCA
GAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATCAGGGACTA
CAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAGCATTTTCG
GGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCTTCGATCCT
TCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACCAACTTCCG
TCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACTGTTTTGCA
GGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTTTGTCAGCC
ACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGTTCTCAGAA
GCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAGGTATCAAG
TTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTGAATTGCCT
GTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGGCTTCACAA
TTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTTGATGATGA
AGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAGATGGAGAG
ATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAACATTGAAC
TTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGGTATAATCA
GGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCTTTAAAGAA
CTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTCTCTACCAT
TTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTACATAAACTT
GAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATTTGTGGAAG
TCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTTAAATAGTG
GTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGTACATCAGT
ACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACATCCTTCAA
ACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAAACTCAGCG
ACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACTTTCACTTG
CCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTCTGAATTCC
ACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGTTTCACAGA
CCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAAGATCCATC
CTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGGAGTTACAT
GTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAATACCCACTT
TTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCAGTTGACTT
TTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAGCATGTGTA
TCTAAGTGTGGAAACTTTATTGTGGTGGGCTGTTATAATGGATTAGTTTATGTTCTGAAAAGTA
ATAGTGGAGAAAAATACTGGATGTTTACTACTGAAGATGCTGTCAAAAGCTCGGCAACCATGGA
TCCAACCACAGGACTCATTTACATTGGATCTCATGACCAGCACGCATATGCTTTAGATATTTAT
AGAAAGAAGTGTGTTTGGAAGTCAAAATGTGGAGGAACTGTCTTTTCCTCTCCGTGTTTGAACC
TGATTCCACATCATTTGTATTTTGCTACATTGGGAGGACTTTTACTGGCTGTAAATCCTGTTTG
GCAGTTCTCTACCAGTGGACCAATCTTTTCATCCCCGTGTACCTCACCATCAGAGCAAAAAATA
TTTTTTGGTTCCCATGATTGCTTTATCTACTGTTGTAACATGAAAGGTCACCTGCAGTGGAAAT
TTGAAACTACTTCAAGGGTCTATGCAACACCGTTTGCTTTCCATAACTACAATGGCAGCAATGA
AATGTTGCTGGCAGCAGCATCTACTGATGGGAAAGTGTGGATCTTGGAATCTCAGAGTGGACAA
TTGCAAAGTGTTTATGAACTTCCTGGAGAAGTCTTCTCTTCTCCTGTGGTCCTGGAATCAATGC
TCATTATTGGGTGTAGAGATAATTATGTTTATTGTCTGGATTTATTGGGTGGCAATCAAAAATA
ATCAAATACAGTCCTTATTTGTATAACAAATGTGAGATATTTGAAAATATTTTACCATTATACA
TCATGTGGACTTATTTTATATTAAAGAAGATTATATTTTGGCTAAGAAACGGAAACTTGTCTAC
ACTTGATTAGAGAACAACTATATTTTACTTCCCATAGGAACGACAGAAGCTTTTACAAGGAGTT
AGAGAACAAAACACATCAATATAATTAGTAGCACTTTTGTTTAATTAGGTGTGATGGTTAACTT
TATTTATATGTCAGCTTGACTGGCTAAGGGATGCTCAGATGATTGATAGCTGGTAAAACATTAT
TTCTGGGTTTGTCTGTGAGGCTGTTTCTGGAAAAGATGATTAGCATTTGAATTTGAATCAGTAG
ACTGAGTAAAGAAGGTCCTCCCTCACCAGTGTGCCAATGTGGGTGGCATCGTTCAATCTGATGA
GGGCCTGAATAGAATGAAAAGGTAGAGGAGGGGCAAATGCTGTCTTCTTGCTGAGATGTATCCA
TCTGCTCCTGCCCTTGGACATCAGGGCTCCTGGTTCTGAAGCCTTTAGACCACTCTCCTGGGTC
TCCAGCGTGCAAATGGCAGATGGTGGTACTTCTCAGCCTCCATCATAATCACTTAAGCCAATTT
TCATAATACATCATCTCTCCTAATCGCTAGGTTTCTATGGAGAACCCTAATACATTAGGCTAAT
TTTATGTTTTTT

hide sequence

RefSeq Acc Id:

XM_017007743 ⟹ XP_016863232

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI

Sequence:

show sequence

ATTCAGGCATATAGTTTACAAAACTCCACCTCGGACCTGCTTTAATTTCTTTACAGGTCCTACT
AAATGCTCCTGTCAAATTCCTTAGTTATCGTTTCAATCTGCTTCCCAATTAAAATGTCAGCATC
ATGATGACAGGAACGTCGTTTGCAGGCGTCACTGCTGCAGCCATATCTCCAGCACGTTTCCAGA
AAATGTCATTGGTTGAAAGCAATAACTCTCCTATTTCACAATGATTTCATCTCTCTTCACATCA
ACCCTAGGTGATGTTTTTATTCTCACCTTATGAACGAGAATACTGCGGCTCAAAATTCAAGAGT
CTTGCCCAGAGTTTTTTGGCAAGTACGAAAGGGTTATGGCTCCAAACTGGTTAGCTCCGAAGTC
CTTGCAAACCCTGTCCGAGACCATGCGCGACCCCAAGGAGCGCCTGAGCAGATAACCAAAAGTG
AAAAAGCCTATAGACCTCTTCACTCAAGTTAGCGCCTCGGCTTCAGGAGAGGCAGCGCCAGCTC
CACGCAGCCGGCCCGGGGTCGCTCGCACTGACGTCACGTAGCGACGCGGAAGATTTACGTATGG
TGCCTCGCTCTGGGATAGCTTTACGGCTTCTGGGAGCTGCTGCTTCGCTGTGAGAAGTATCCGC
GACGAGCTATCCGGGAAAGGGCCGAATGCGATCAAACCTAATCCGCGAGACTTGCTAAGGTTCT
GTGCTACAAATTGATGTTTAGATAAACTTCAGTGAAATGACTCTTCAGGAATTGGTGCATAAGG
CTGCCTCCTGTTATATGGACAGAGTAGCTGTATGTTTTGATGAATGCAACAACCAGCTTCCAGT
TTACTACACCTACAAGACTGTGGTTAATGCTGCTTCTGAATTATCAAATTTTCTGCTGTTACAC
TGTGACTTTCAAGGAATTCGGGAAATTGGTCTCTACTGCCAACCTGGGATAGACTTACCCTCTT
GGATTTTAGGAATTCTCCAAGTCCCGGCTGCTTATGTACCTATCGAGCCAGATTCACCACCGTC
ATTATCAACTCATTTTATGAAAAAATGTAATCTAAAGTATATCCTTGTTGAAAAAAAACAAATT
AATAAATTTAAATCTTTTCATGAAACATTATTGAACTATGATACATTTACAGTGGAACATAATG
ACCTAGTGCTCTTCAGACTTCACTGGAAAAATACTGAGGTGAACTTGATGCTAAATGATGGAAA
AGAGAAATATGAAAAAGAAAAAATAAAAAGCATAAGTTCTGAGCATGTCAATGAAGAAAAAGCA
GAAGAACACATGGATCTGAGGCTAAAGCATTGCTTAGCCTATGTTCTACATACATCAGGGACTA
CAGGGATACCGAAGATTGTCAGAGTGCCTCATAAGTGTATAGTACCAAATATCCAGCATTTTCG
GGTACTTTTTGACATCACACAAGAAGATGTTTTGTTTCTGGCTTCACCTCTGACCTTCGATCCT
TCTGTTGTGGAAATATTTCTTGCTCTATCAAGTGGTGCCTCTCTGCTTATTGTACCAACTTCCG
TCAAGTTGCTCCCATCAAAATTAGCCAGCGTTCTCTTTTCCCATCATAGAGTGACTGTTTTGCA
GGCAACACCAACATTGCTTAGAAGATTTGGATCTCAGCTTATCAAGTCAACTGTTTTGTCAGCC
ACTACTTCTCTTCGAGTATTAGCCCTTGGTGGTGAAGCGTTTCCATCATTGACAGTTCTCAGAA
GCTGGAGAGGAGAAGGCAATAAAACACAAATATTTAATGTTTATGGTATCACAGAGGTATCAAG
TTGGGCGACCATTTATAGGATTCCAGAGAAGACTCTTAACTCTACTCTCAAATGTGAATTGCCT
GTACAACTGGGATTTCCACTTCTTGGAACAGTAGTTGAAGTCAGAGATACTAATGGCTTCACAA
TTCAGGAAGGCAGTGGCCAAGTATTTTTAGGTGGCAGAAACAGAGTGTGTTTTCTTGATGATGA
AGTGACAGTACCACTTGGCACAATGCGAGCTACAGGAGACTTTGTGACTGTGAAAGATGGAGAG
ATTTTTTTTTTGGGACGAAAAGACAGTCAGATCAAACGTCATGGCAAACGTCTTAACATTGAAC
TTGTGCAACAGGTTGCTGAAGAGCTTCAGCAAGTGGAGTCTTGTGCAGTTACATGGTATAATCA
GGAAAAATTAATTCTCTTCATGGTGTCTAAAGATGCTTCAGTAAAAGAATACATCTTTAAAGAA
CTGCAGAAATATCTTCCAAGTCATGCAGTCCCGGATGAGCTTGTATTGATCGACTCTCTACCAT
TTACATCCCACGGCAAAATTGATGTTTCTGAGTTAAACAAGATATATTTAAACTACATAAACTT
GAAGTCTGAGAATAAGCTCAGTGGGAAAGAGGACCTTTGGGAAAAATTACAGTATTTGTGGAAG
TCTACTCTGAATCTCCCAGAAGATCTTTTGAGGGTTCCTGATGAGTCACTCTTCTTAAATAGTG
GTGGAGATTCCTTAAAGTCCATCCGGCTCCTCAGTGAGATTGAAAAACTTGTTGGTACATCAGT
ACCTGGGCTTCTGGAAATTATTCTCAGCAGTTCCATTTTAGAGATTTATAATCACATCCTTCAA
ACAGTGGTTCCAGATGAAGATGTGACATTCAGGAAGAGTTGTGCCACAAAAAGGAAACTCAGCG
ACATTAATCAAGAGGAAGCCAGTGGAACATCTTTACATCAGAAAGCCATCATGACTTTCACTTG
CCACAATGAGATTAATGCTTTTGTTGTACTGAGCAGAGGGAGTCAAATTTTGTCTCTGAATTCC
ACTAGGTTTTTAACAAAGTTAGGACATTGCTCTTCAGCCTGTCCTTCTGACTCAGTTTCACAGA
CCAACATTCAAAATTTGAAAGGCTTAAATTCTCCAGTTCTTATTGGGAAGTCAAAAGATCCATC
CTGTGTTGCAAAAGTTTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGGAGTTACAT
GTGAGGTGGAGGTCAGACACAGGCAAATGTGTAGATGCTTCACCGCTGGTTGTAATACCCACTT
TTGATAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTCATAGAATGAAGGCAGTTGACTT
TTACTCTGGGAAGGTAAAATGGGAACAGATTTTGGGAGATCGAATTGAATCCTCAGCATGTGTA
TCTAAGTGTGGAAACTTTATTGTGGTGGAGAAAGAAGTGTGTTTGGAAGTCAAAATGTGGAGGA
ACTGTCTTTTCCTCTCCGTGTTTGAACCTGATTCCACATCATTTGTATTTTGCTACATTGGGAG
GACTTTTACTGGCTGTAAATCCTGTTTGGCAGTTCTCTACCAGTGGACCAATCTTTTCATCCCC
GTGTACCTCACCATCAGAGCAAAAAATATTTTTTGGTTCCCATGATTGCTTTATCTACTGTTGT
AACATGAAAGGTCACCTGCAGTGGAAATTTGAAACTACTTCAAGGGTCTATGCAACACCGTTTG
CTTTCCATAACTACAATGGCAGCAATGAAATGTTGCTGGCAGCAGCATCTACTGATGGGAAAGT
GTGGATCTTGGAATCTCAGAGTGGACAATTGCAAAGTGTTTATGAACTTCCTGGAGAAGTCTTC
TCTTCTCCTGTGGTCCTGGAATCAATGCTCATTATTGGGTGTAGAGATAATTATGTTTATTGTC
TGGATTTATTGGGTGGCAATCAAAAATAATCAAATACAGTCCTTATTTGTATAACAAATGTGAG
ATATTTGAAAATATTTTACCATTATACATCATGTGGACTTATTTTATATTAAAGAAGATTATAT
TTTGGCTAAGAAACGGAAACTTGTCTACACTTGATTAGAGAACAACTATATTTTACTTCCCATA
GGAACGACAGAAGCTTTTACAAGGAGTTAGAGAACAAAACACATCAATATAATTAGTAGCACTT
TTGTTTAATTAGGTGTGATGGTTAACTTTATTTATATGTCAGCTTGACTGGCTAAGGGATGCTC
AGATGATTGATAGCTGGTAAAACATTATTTCTGGGTTTGTCTGTGAGGCTGTTTCTGGAAAAGA
TGATTAGCATTTGAATTTGAATCAGTAGACTGAGTAAAGAAGGTCCTCCCTCACCAGTGTGCCA
ATGTGGGTGGCATCGTTCAATCTGATGAGGGCCTGAATAGAATGAAAAGGTAGAGGAGGGGCAA
ATGCTGTCTTCTTGCTGAGATGTATCCATCTGCTCCTGCCCTTGGACATCAGGGCTCCTGGTTC
TGAAGCCTTTAGACCACTCTCCTGGGTCTCCAGCGTGCAAATGGCAGATGGTGGTACTTCTCAG
CCTCCATCATAATCACTTAAGCCAATTTTCATAATACATCATCTCTCCTAATCGCTAGGTTTCT
ATGGAGAACCCTAATACATTAGGCTAATTTTATGTTTTTT

hide sequence

RefSeq Acc Id:

XM_047449614 ⟹ XP_047305570

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,387,491 (-)	NCBI

RefSeq Acc Id:

XM_047449615 ⟹ XP_047305571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,338,290 - 56,378,228 (-)	NCBI

RefSeq Acc Id:

XM_054348939 ⟹ XP_054204914

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

RefSeq Acc Id:

XM_054348940 ⟹ XP_054204915

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

RefSeq Acc Id:

XM_054348941 ⟹ XP_054204916

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	59,826,269 - 59,875,493 (-)	NCBI

RefSeq Acc Id:

XM_054348942 ⟹ XP_054204917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	59,826,269 - 59,866,207 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001273597	(Get FASTA)	NCBI Sequence Viewer
	NP_001273598	(Get FASTA)	NCBI Sequence Viewer
	NP_001273599	(Get FASTA)	NCBI Sequence Viewer
	NP_001273600	(Get FASTA)	NCBI Sequence Viewer
	NP_001273601	(Get FASTA)	NCBI Sequence Viewer
	NP_001310819	(Get FASTA)	NCBI Sequence Viewer
	NP_001310821	(Get FASTA)	NCBI Sequence Viewer
	NP_001310822	(Get FASTA)	NCBI Sequence Viewer
	NP_001310828	(Get FASTA)	NCBI Sequence Viewer
	NP_861522	(Get FASTA)	NCBI Sequence Viewer
	XP_016863229	(Get FASTA)	NCBI Sequence Viewer
	XP_016863232	(Get FASTA)	NCBI Sequence Viewer
	XP_047305570	(Get FASTA)	NCBI Sequence Viewer
	XP_047305571	(Get FASTA)	NCBI Sequence Viewer
	XP_054204914	(Get FASTA)	NCBI Sequence Viewer
	XP_054204915	(Get FASTA)	NCBI Sequence Viewer
	XP_054204916	(Get FASTA)	NCBI Sequence Viewer
	XP_054204917	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF28996	(Get FASTA)	NCBI Sequence Viewer
	AAH71815	(Get FASTA)	NCBI Sequence Viewer
	AAI41825	(Get FASTA)	NCBI Sequence Viewer
	AAI42710	(Get FASTA)	NCBI Sequence Viewer
	AAP76519	(Get FASTA)	NCBI Sequence Viewer
	AAQ83120	(Get FASTA)	NCBI Sequence Viewer
	AAR31184	(Get FASTA)	NCBI Sequence Viewer
	BAG57604	(Get FASTA)	NCBI Sequence Viewer
	BAG64707	(Get FASTA)	NCBI Sequence Viewer
	BAG65162	(Get FASTA)	NCBI Sequence Viewer
	BAH14667	(Get FASTA)	NCBI Sequence Viewer
	CAH56130	(Get FASTA)	NCBI Sequence Viewer
	CAH56482	(Get FASTA)	NCBI Sequence Viewer
	EAX05484	(Get FASTA)	NCBI Sequence Viewer
	EAX05485	(Get FASTA)	NCBI Sequence Viewer
	EAX05486	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000205214
	ENSP00000205214.6
	ENSP00000409656
	ENSP00000409656.1
	ENSP00000421171
	ENSP00000421171.1
	ENSP00000421658.2
	ENSP00000423760
	ENSP00000423760.1
	ENSP00000427298.1
	ENSP00000473564
	ENSP00000473564.2
GenBank Protein	Q4L235	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_861522 ⟸ NM_181806
- Peptide Label:	isoform 1
- UniProtKB:	Q96BW4 (UniProtKB/Swiss-Prot), Q7Z5Y3 (UniProtKB/Swiss-Prot), Q6TFZ6 (UniProtKB/Swiss-Prot), Q6IPP8 (UniProtKB/Swiss-Prot), Q63HR7 (UniProtKB/Swiss-Prot), Q63HK2 (UniProtKB/Swiss-Prot), A5PL22 (UniProtKB/Swiss-Prot), A5D8V3 (UniProtKB/Swiss-Prot), Q9P064 (UniProtKB/Swiss-Prot), Q4L235 (UniProtKB/Swiss-Prot), B4E2K0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCY NGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGG TVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNL LCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATP FAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVY CLDLLGGNQK hide sequence

RefSeq Acc Id:	NP_001273597 ⟸ NM_001286668
- Peptide Label:	isoform 2
- UniProtKB:	B4E2K0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEK EKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDI TQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTL LRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIY RIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPL GTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLIL FMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENK LSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLE IILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEIN AFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKV SEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKV KWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGL IYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIW KHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGS HDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSV YELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:	NP_001273598 ⟸ NM_001286669
- Peptide Label:	isoform 3
- UniProtKB:	B4E2K0 (UniProtKB/TrEMBL), R4GNB1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVP NIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHH RVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYG ITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRV CFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCA VTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIY LNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEK LVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKA IMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIG KSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHR MKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVK SSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLL AVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCT SPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWI LESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:	NP_001273599 ⟸ NM_001286670
- Peptide Label:	isoform 4
- UniProtKB:	B4DFZ3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKL SGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEI ILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINA FVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVS EEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVK WEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLI YIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWK HSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSH DCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVY ELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:	NP_001273600 ⟸ NM_001286671
- Peptide Label:	isoform 5
- UniProtKB:	B4E195 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGLA VLYQWTNLFIPVYLTIRAKNIFWFP hide sequence

RefSeq Acc Id:	NP_001273601 ⟸ NM_001286672
- Peptide Label:	isoform 6
- UniProtKB:	B4E195 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGKF LNLRFVELN hide sequence

RefSeq Acc Id:	NP_001310822 ⟸ NM_001323893
- Peptide Label:	isoform 9
- UniProtKB:	B4E195 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVP NIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHH RVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYG ITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRV CFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCA VTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIY LNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIEK LVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKA IMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIG KSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHR MKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVEKEVCLEVKMWRNCLFLSVFEPDSTSFV FCYIGRTFTGCKSCYWERYLETFLWKTTLLFPTMLLTVYLYWLCRWEFTLLYSLWRTGLAVLYQ WTNLFIPVYLTIRAKNIFWFP hide sequence

RefSeq Acc Id:	NP_001310828 ⟸ NM_001323899
- Peptide Label:	isoform 10
- UniProtKB:	B4DFZ3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFMVSQRYQVGRPFIGFQRRLLTLLSSGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLG RKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYL PSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNL PEDLLRVPDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPD EDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLT KLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRS DTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGN FIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCV WKSKCGGTVFSSPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICI GCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETT SRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLIIG CRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:	NP_001310821 ⟸ NM_001323892
- Peptide Label:	isoform 8
- UniProtKB:	B4E195 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVEKE VCLEVKMWRNCLFLSVFEPDSTSFVFCYIGRTFTGCKSCYWERYLETFLWKTTLLFPTMLLTVY LYWLCRWEFTLLYSLWRTGLAVLYQWTNLFIPVYLTIRAKNIFWFP hide sequence

RefSeq Acc Id:	NP_001310819 ⟸ NM_001323890
- Peptide Label:	isoform 7
- UniProtKB:	B4E2K0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVETE LLRVVQAGLKLPGSSDLPTSASQSAEITGVSHHVWPGCYNGLVYVLKSNSGEKYWMFTTEDAVK SSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFSSPCLNLIPHHLYFATLGGLLL AVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFSTSGPIFSSPCT SPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWI LESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:	XP_016863232 ⟸ XM_017007743
- Peptide Label:	isoform X3
- UniProtKB:	B4E195 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVEKE VCLEVKMWRNCLFLSVFEPDSTSFVFCYIGRTFTGCKSCLAVLYQWTNLFIPVYLTIRAKNIFW FP hide sequence

RefSeq Acc Id:	XP_016863229 ⟸ XM_017007740
- Peptide Label:	isoform X2
- UniProtKB:	B4E2K0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLY CQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLN YDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCL AYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPLTFDPSVVEIFLALSSG ASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQLIKSTVLSATTSLRVLALGGE AFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQLGFPLLGTVV EVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIK RHGKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPD ELVLIDSLPFTSHGKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRV PDESLFLNSGGDSLKSIRLLSEIEKLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRK SCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSS ACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVD ASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCY NGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGG TVFSSPCLNLIPHHLYFATLGGLLLAVNPVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCC NMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVF SSPVVLESMLIIGCRDNYVYCLDLLGGNQK hide sequence

RefSeq Acc Id:

ENSP00000421171 ⟸ ENST00000502617

RefSeq Acc Id:

ENSP00000421658 ⟸ ENST00000503808

RefSeq Acc Id:

ENSP00000409656 ⟸ ENST00000451613

RefSeq Acc Id:

ENSP00000205214 ⟸ ENST00000205214

RefSeq Acc Id:

ENSP00000473564 ⟸ ENST00000602986

RefSeq Acc Id:

ENSP00000423760 ⟸ ENST00000513376

RefSeq Acc Id:

ENSP00000427298 ⟸ ENST00000514745

RefSeq Acc Id:	XP_047305570 ⟸ XM_047449614
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047305571 ⟸ XM_047449615
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054204916 ⟸ XM_054348941
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054204915 ⟸ XM_054348940
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054204914 ⟸ XM_054348939
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054204917 ⟸ XM_054348942
- Peptide Label:	isoform X4

Protein Domains

AMP-dependent synthetase/ligase Carrier

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q4L235-F1-model_v2	AlphaFold	Q4L235	1-1098	view protein structure

Promoters

RGD ID:

6867506

Promoter ID:

EPDNEW_H6918

Type:

initiation region

Name:

AASDH_1

Description:

aminoadipate-semialdehyde dehydrogenase

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	56,387,470 - 56,387,530	EPDNEW

RGD ID:

6801996

Promoter ID:

HG_KWN:48295

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:

OTTHUMT00000250780, UC003HBO.1, UC003HBP.2, UC003HBQ.1, UC010IHC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	56,948,166 - 56,949,112 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23993	AgrOrtholog
COSMIC	AASDH	COSMIC
Ensembl Genes	ENSG00000157426	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000205214	ENTREZGENE
	ENST00000205214.11	UniProtKB/Swiss-Prot
	ENST00000451613	ENTREZGENE
	ENST00000451613.5	UniProtKB/Swiss-Prot
	ENST00000502617	ENTREZGENE
	ENST00000502617.1	UniProtKB/Swiss-Prot
	ENST00000503808.5	UniProtKB/TrEMBL
	ENST00000513376	ENTREZGENE
	ENST00000513376.5	UniProtKB/Swiss-Prot
	ENST00000514745.5	UniProtKB/TrEMBL
	ENST00000602986	ENTREZGENE
	ENST00000602986.5	UniProtKB/TrEMBL
Gene3D-CATH	2.130.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.40.10.480	UniProtKB/TrEMBL
	3.30.300.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.40.50.12780	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000157426	GTEx
HGNC ID	HGNC:23993	ENTREZGENE
Human Proteome Map	AASDH	Human Proteome Map
InterPro	AASDH_AMP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ACP-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AMP-bd_C_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AMP-binding_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AMP-dep_Synth/Lig	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AMP-dep_Synthh-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PP-bd_ACP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PQQ_beta_propeller_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PQQ_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Quinoprotein_ADH-like_supfam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:132949	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	132949	ENTREZGENE
OMIM	614365	OMIM
PANTHER	BETA-ALANINE-ACTIVATING ENZYME	UniProtKB/Swiss-Prot
	BETA-ALANINE-ACTIVATING ENZYME	UniProtKB/Swiss-Prot
	BETA-ALANINE-ACTIVATING ENZYME	UniProtKB/TrEMBL
	BETA-ALANINE-ACTIVATING ENZYME	UniProtKB/TrEMBL
Pfam	AMP-binding	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PP-binding	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PQQ_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PQQ_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162375178	PharmGKB
PROSITE	AMP_BINDING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	CARRIER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PQQ	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Acetyl-CoA synthetase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47336	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50998	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A5D8V3	ENTREZGENE
	A5PL22	ENTREZGENE
	ACSF4_HUMAN	UniProtKB/Swiss-Prot
	B4DFZ3	ENTREZGENE, UniProtKB/TrEMBL
	B4E195	ENTREZGENE, UniProtKB/TrEMBL
	B4E2K0	ENTREZGENE, UniProtKB/TrEMBL
	B7ZAI1_HUMAN	UniProtKB/TrEMBL
	D6RJA2_HUMAN	UniProtKB/TrEMBL
	E9PH98_HUMAN	UniProtKB/TrEMBL
	Q4L235	ENTREZGENE
	Q63HK2	ENTREZGENE
	Q63HR7	ENTREZGENE
	Q6IPP8	ENTREZGENE
	Q6TFZ6	ENTREZGENE
	Q7Z5Y3	ENTREZGENE
	Q96BW4	ENTREZGENE
	Q9P064	ENTREZGENE
	R4GNB1	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	A5D8V3	UniProtKB/Swiss-Prot
	A5PL22	UniProtKB/Swiss-Prot
	Q63HK2	UniProtKB/Swiss-Prot
	Q63HR7	UniProtKB/Swiss-Prot
	Q6IPP8	UniProtKB/Swiss-Prot
	Q6TFZ6	UniProtKB/Swiss-Prot
	Q7Z5Y3	UniProtKB/Swiss-Prot
	Q96BW4	UniProtKB/Swiss-Prot
	Q9P064	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