ACOX3 (acyl-CoA oxidase 3, pristanoyl)

Gene: ACOX3 (acyl-CoA oxidase 3, pristanoyl) Homo sapiens

Analyze

Symbol:

ACOX3

Name:

acyl-CoA oxidase 3, pristanoyl

RGD ID:

736892

HGNC Page

HGNC:121

Description:

Predicted to enable fatty acid binding activity; flavin adenine dinucleotide binding activity; and pristanoyl-CoA oxidase activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase and lipid homeostasis. Located in peroxisome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

acyl-Coenzyme A oxidase 3, pristanoyl; branched-chain acyl-CoA oxidase; BRCACox; peroxisomal acyl-coenzyme A oxidase 3; pristanoyl-CoA oxidase

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Acox3 (acyl-Coenzyme A oxidase 3, pristanoyl)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Acox3 (acyl-CoA oxidase 3, pristanoyl)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Acox3 (acyl-CoA oxidase 3, pristanoyl)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ACOX3 (acyl-CoA oxidase 3, pristanoyl)	NCBI	Ortholog
Canis lupus familiaris (dog):	ACOX3 (acyl-CoA oxidase 3, pristanoyl)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Acox3 (acyl-CoA oxidase 3, pristanoyl)	NCBI	Ortholog
Sus scrofa (pig):	ACOX3 (acyl-CoA oxidase 3, pristanoyl)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ACOX3 (acyl-CoA oxidase 3, pristanoyl)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Acox3 (acyl-CoA oxidase 3, pristanoyl)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Adrb3 (adrenoceptor beta 3)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Acox3 (acyl-CoA oxidase 3, pristanoyl)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Acox3 (acyl-Coenzyme A oxidase 3, pristanoyl)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	acox3 (acyl-CoA oxidase 3, pristanoyl)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG17544	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	CG9527	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	acox-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	acox3.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	acox3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	8,355,305 - 8,440,723 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	8,366,282 - 8,440,723 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	8,368,009 - 8,442,450 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	8,418,909 - 8,493,352 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	8,486,518 - 8,560,499	NCBI
Celera	4	8,261,321 - 8,335,759 (-)	NCBI		Celera
Cytogenetic Map	4	p16.1	NCBI
HuRef	4	8,287,364 - 8,362,315 (-)	NCBI		HuRef
CHM1_1	4	8,366,366 - 8,440,788 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	8,337,453 - 8,420,469 (-)	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

Chemical and Drug Induced Liver Injury (EXP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

3,3',4,4',5-pentachlorobiphenyl (ISO)

4,4'-diaminodiphenylmethane (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

entacapone (ISO)

flutamide (ISO)

folic acid (ISO)

gentamycin (ISO)

indometacin (ISO)

methamphetamine (ISO)

methapyrilene (EXP)

methylmercury chloride (EXP)

microcystin-LR (ISO)

N-methyl-4-phenylpyridinium (ISO)

nefazodone (ISO)

nimesulide (ISO)

obeticholic acid (EXP)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

Propiverine (ISO)

quercetin (EXP)

resveratrol (EXP)

sodium arsenite (EXP)

temozolomide (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

tolcapone (ISO)

triphenyl phosphate (ISO)

triptonide (ISO)

valdecoxib (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

fatty acid beta-oxidation using acyl-CoA oxidase (IBA,IEA,ISO)

fatty acid metabolic process (IEA)

lipid homeostasis (IBA,IEA)

Cellular Component

cytosol (TAS)

membrane (HDA)

peroxisomal matrix (TAS)

peroxisome (IBA,IDA,IEA,ISO)

Molecular Function

acyl-CoA oxidase activity (IEA)

FAD binding (IEA)

fatty acid binding (IBA,IEA,ISO)

flavin adenine dinucleotide binding (IBA,IEA,ISO)

oxidoreductase activity (IEA)

pristanoyl-CoA oxidase activity (IBA,IEA,ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8387517	PMID:8993592	PMID:9271077	PMID:12477932	PMID:15231748	PMID:15489334	PMID:15599942	PMID:16344560	PMID:16756494	PMID:19946888	PMID:20178365
PMID:20677014	PMID:20877624	PMID:21659360	PMID:21873635	PMID:26186194	PMID:28514442	PMID:29568061	PMID:31975215	PMID:32393512	PMID:32513696	PMID:33961781	PMID:35562734
PMID:35748872	PMID:35831314	PMID:36215168	PMID:36736316

Genomics

Comparative Map Data

ACOX3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	8,355,305 - 8,440,723 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	8,366,282 - 8,440,723 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	8,368,009 - 8,442,450 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	8,418,909 - 8,493,352 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	8,486,518 - 8,560,499	NCBI
Celera	4	8,261,321 - 8,335,759 (-)	NCBI		Celera
Cytogenetic Map	4	p16.1	NCBI
HuRef	4	8,287,364 - 8,362,315 (-)	NCBI		HuRef
CHM1_1	4	8,366,366 - 8,440,788 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	8,337,453 - 8,420,469 (-)	NCBI		T2T-CHM13v2.0

Acox3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	35,740,293 - 35,772,397 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	35,740,384 - 35,772,696 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	35,582,981 - 35,614,208 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	35,583,040 - 35,615,352 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	35,925,709 - 35,956,450 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	35,899,921 - 35,930,662 (+)	NCBI		MGSCv36	mm8
Celera	5	33,056,108 - 33,087,085 (+)	NCBI		Celera
Cytogenetic Map	5	B3	NCBI
cM Map	5	18.32	NCBI

Acox3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	79,358,604 - 79,405,160 (-)	NCBI		GRCr8
mRatBN7.2	14	75,133,986 - 75,176,767 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	75,094,676 - 75,176,205 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	79,575,514 - 79,629,707 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	80,816,379 - 80,870,575 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	77,261,371 - 77,315,558 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	80,313,202 - 80,358,115 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	80,314,431 - 80,355,420 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	79,942,668 - 79,982,780 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	80,769,000 - 80,809,809 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	80,771,390 - 80,812,200 (-)	NCBI
Celera	14	74,065,866 - 74,104,532 (-)	NCBI		Celera
Cytogenetic Map	14	q21	NCBI

Acox3
(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_004955514	2,656,144 - 2,685,896 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955514	2,653,502 - 2,690,452 (+)	NCBI	ChiLan1.0	ChiLan1.0

ACOX3
(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	8,642,020 - 8,727,303 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	8,569,231 - 8,654,531 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	4	8,432,788 - 8,506,499 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	8,432,788 - 8,494,157 (-)	Ensembl	panpan1.1		panPan2

ACOX3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	60,154,012 - 60,205,696 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	60,153,775 - 60,203,554 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	62,804,141 - 62,856,135 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	60,631,684 - 60,683,139 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	60,628,819 - 60,680,866 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	60,123,908 - 60,162,124 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	60,327,224 - 60,379,691 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	60,685,106 - 60,736,638 (-)	NCBI		UU_Cfam_GSD_1.0

Acox3
(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	65,992,882 - 66,029,673 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936477	19,694,555 - 19,731,386 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936477	19,696,274 - 19,731,338 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACOX3
(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	2,716,918 - 2,770,801 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	2,716,913 - 2,756,221 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	4,391,443 - 4,418,723 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACOX3
(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	27	44,313,297 - 44,366,702 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666051	635,738 - 689,992 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Acox3
(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_004624755	23,995,089 - 24,024,083 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624755	23,995,256 - 24,026,581 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ACOX3
62 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	copy number loss	See cases [RCV000051642]	Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	copy number loss	See cases [RCV000051614]	Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|See cases [RCV000051752]	Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	copy number gain	See cases [RCV000051753]	Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	copy number gain	See cases [RCV000051757]	Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]\|See cases [RCV000051758]	Chr4:2231690..11197847 [GRCh38] Chr4:2233417..11199471 [GRCh37] Chr4:2203215..10808569 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|See cases [RCV000051672]	Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	copy number gain	See cases [RCV000051755]	Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|See cases [RCV000051674]	Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	copy number loss	See cases [RCV000051679]	Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3	copy number gain	See cases [RCV000051743]	Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1	copy number loss	See cases [RCV000053262]	Chr4:5455628..10640216 [GRCh38] Chr4:5457355..10641840 [GRCh37] Chr4:5508256..10250938 [NCBI36] Chr4:4p16.2-16.1	pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	copy number gain	See cases [RCV000133677]	Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	copy number loss	See cases [RCV000135336]	Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	copy number gain	See cases [RCV000135349]	Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	copy number loss	See cases [RCV000135657]	Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	copy number loss	See cases [RCV000135436]	Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	copy number loss	See cases [RCV000135532]	Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	copy number loss	See cases [RCV000135992]	Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	copy number loss	See cases [RCV000137036]	Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	copy number gain	See cases [RCV000137071]	Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	copy number loss	See cases [RCV000138198]	Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	copy number gain	See cases [RCV000137908]	Chr4:8414872..10011846 [GRCh38] Chr4:8416599..10013470 [GRCh37] Chr4:8467499..9622568 [NCBI36] Chr4:4p16.1	likely benign
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	copy number gain	See cases [RCV000138305]	Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	copy number loss	See cases [RCV000138227]	Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	copy number loss	See cases [RCV000139551]	Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	copy number loss	See cases [RCV000141502]	Chr4:4426403..17460549 [GRCh38] Chr4:4428130..17462172 [GRCh37] Chr4:4479031..17071270 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	copy number loss	See cases [RCV000143377]	Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	copy number loss	See cases [RCV000143713]	Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	copy number loss	See cases [RCV000143686]	Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	copy number loss	See cases [RCV000203431]	Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	copy number loss	4p partial monosomy syndrome [RCV000767672]	Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	copy number loss	See cases [RCV000240003]	Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	copy number gain	See cases [RCV000240007]	Chr4:6447048..20490737 [GRCh37] Chr4:4p16.1-15.31	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	copy number loss	See cases [RCV000239427]	Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	copy number gain	See cases [RCV000240481]	Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1	copy number loss	See cases [RCV000449197]	Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1	copy number loss	See cases [RCV000446287]	Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
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 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000447633]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	copy number loss	See cases [RCV000448933]	Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32	pathogenic
GRCh37/hg19 4p16.1(chr4:8199982-8731855)x3	copy number gain	See cases [RCV000512078]	Chr4:8199982..8731855 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	copy number loss	See cases [RCV000512104]	Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	copy number loss	See cases [RCV000510662]	Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32	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 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000510565]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	copy number loss	See cases [RCV000511351]	Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33	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_003501.3(ACOX3):c.1747T>G (p.Ser583Ala)	single nucleotide variant	Inborn genetic diseases [RCV003242097]	Chr4:8375059 [GRCh38] Chr4:8376786 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1753C>T (p.Arg585Trp)	single nucleotide variant	Inborn genetic diseases [RCV003282102]	Chr4:8375053 [GRCh38] Chr4:8376780 [GRCh37] Chr4:4p16.1	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
NM_003501.3(ACOX3):c.1698G>C (p.Thr566=)	single nucleotide variant	not provided [RCV000676031]	Chr4:8375108 [GRCh38] Chr4:8376835 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.1266C>T (p.Cys422=)	single nucleotide variant	not provided [RCV000676035]	Chr4:8392367 [GRCh38] Chr4:8394094 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.873+23G>A	single nucleotide variant	not provided [RCV000676036]	Chr4:8399533 [GRCh38] Chr4:8401260 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.448A>C (p.Met150Leu)	single nucleotide variant	not provided [RCV000676037]	Chr4:8414859 [GRCh38] Chr4:8416586 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.378+11G>A	single nucleotide variant	not provided [RCV000676038]	Chr4:8415755 [GRCh38] Chr4:8417482 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1897-6C>T	single nucleotide variant	not provided [RCV000676029]	Chr4:8371000 [GRCh38] Chr4:8372727 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.1653+4A>C	single nucleotide variant	not provided [RCV000676032]	Chr4:8381488 [GRCh38] Chr4:8383215 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.1842C>T (p.Ser614=)	single nucleotide variant	not provided [RCV000676030]	Chr4:8373615 [GRCh38] Chr4:8375342 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.1439G>C (p.Arg480Pro)	single nucleotide variant	not provided [RCV000676034]	Chr4:8389271 [GRCh38] Chr4:8390998 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.101A>C (p.Glu34Ala)	single nucleotide variant	not provided [RCV000676039]	Chr4:8416421 [GRCh38] Chr4:8418148 [GRCh37] Chr4:4p16.1	benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	copy number loss	not provided [RCV000682373]	Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.1(chr4:8313806-8569066)x3	copy number gain	not provided [RCV000682379]	Chr4:8313806..8569066 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8349533-8446629)x1	copy number loss	not provided [RCV000682380]	Chr4:8349533..8446629 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8373601-8496780)x1	copy number loss	not provided [RCV000682381]	Chr4:8373601..8496780 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1489G>A (p.Asp497Asn)	single nucleotide variant	not provided [RCV000676033]	Chr4:8389221 [GRCh38] Chr4:8390948 [GRCh37] Chr4:4p16.1	benign
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 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 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3	copy number gain	not provided [RCV000743154]	Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_003501.3(ACOX3):c.1814C>T (p.Ala605Val)	single nucleotide variant	not provided [RCV001812969]	Chr4:8374992 [GRCh38] Chr4:8376719 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1215G>A (p.Ser405=)	single nucleotide variant	not provided [RCV000905919]	Chr4:8392418 [GRCh38] Chr4:8394145 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.225C>T (p.Arg75=)	single nucleotide variant	not provided [RCV000905920]	Chr4:8415919 [GRCh38] Chr4:8417646 [GRCh37] Chr4:4p16.1	likely benign
NC_000004.12:g.8398067_17505522inv	inversion	Dihydropteridine reductase deficiency [RCV000768549]	Chr4:8398067..17505522 [GRCh38] Chr4:4p16.1-15.32	pathogenic
NM_003501.3(ACOX3):c.84G>A (p.Ala28=)	single nucleotide variant	not provided [RCV000881132]	Chr4:8416438 [GRCh38] Chr4:8418165 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.447G>A (p.Arg149=)	single nucleotide variant	not provided [RCV000916228]	Chr4:8414860 [GRCh38] Chr4:8416587 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	copy number loss	not provided [RCV000845896]	Chr4:3374195..13468480 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.1(chr4:8162995-8481259)x1	copy number loss	not provided [RCV000847150]	Chr4:8162995..8481259 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	copy number loss	not provided [RCV001005511]	Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	copy number loss	not provided [RCV001005514]	Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	copy number loss	See cases [RCV001007422]	Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3	copy number gain	not provided [RCV000846952]	Chr4:7336953..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.144+7C>T	single nucleotide variant	not provided [RCV000975030]	Chr4:8416371 [GRCh38] Chr4:8418098 [GRCh37] Chr4:4p16.1	benign
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	copy number loss	not provided [RCV001005519]	Chr4:5914109..17264668 [GRCh37] Chr4:4p16.2-15.32	likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	copy number loss	not provided [RCV002473869]	Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	copy number loss	not provided [RCV001005512]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	copy number gain	not provided [RCV001005510]	Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	copy number loss	not provided [RCV001537927]	Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_003501.3(ACOX3):c.311C>T (p.Pro104Leu)	single nucleotide variant	Inborn genetic diseases [RCV002541803]\|not provided [RCV001810714]	Chr4:8415833 [GRCh38] Chr4:8417560 [GRCh37] Chr4:4p16.1	likely benign\|uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	copy number gain	not provided [RCV001537928]	Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NM_003501.3(ACOX3):c.1580G>A (p.Arg527Gln)	single nucleotide variant	not provided [RCV001509234]	Chr4:8381565 [GRCh38] Chr4:8383292 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3	copy number gain	not provided [RCV001832971]	Chr4:7792998..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8367623-8609785)x3	copy number gain	not provided [RCV001834141]	Chr4:8367623..8609785 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	copy number loss	not provided [RCV001829146]	Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.1(chr4:8265830-8731855)x3	copy number gain	not provided [RCV001833064]	Chr4:8265830..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	copy number loss	See cases [RCV002286359]	Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31	pathogenic
NM_003501.3(ACOX3):c.1981G>A (p.Glu661Lys)	single nucleotide variant	Inborn genetic diseases [RCV003295148]	Chr4:8370910 [GRCh38] Chr4:8372637 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	copy number loss	not provided [RCV002473938]	Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3	copy number gain	not provided [RCV002474653]	Chr4:8234755..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.887G>A (p.Arg296His)	single nucleotide variant	Inborn genetic diseases [RCV002969760]	Chr4:8397106 [GRCh38] Chr4:8398833 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.923G>A (p.Arg308Gln)	single nucleotide variant	Inborn genetic diseases [RCV002685349]	Chr4:8397070 [GRCh38] Chr4:8398797 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.92G>A (p.Ser31Asn)	single nucleotide variant	Inborn genetic diseases [RCV002818808]	Chr4:8416430 [GRCh38] Chr4:8418157 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1769G>A (p.Arg590Gln)	single nucleotide variant	Inborn genetic diseases [RCV002687672]	Chr4:8375037 [GRCh38] Chr4:8376764 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1663G>A (p.Gly555Ser)	single nucleotide variant	Inborn genetic diseases [RCV002773899]	Chr4:8375143 [GRCh38] Chr4:8376870 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.74G>A (p.Arg25Gln)	single nucleotide variant	Inborn genetic diseases [RCV002797703]	Chr4:8416448 [GRCh38] Chr4:8418175 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1267C>T (p.Arg423Trp)	single nucleotide variant	Inborn genetic diseases [RCV002762339]	Chr4:8392366 [GRCh38] Chr4:8394093 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.598A>G (p.Met200Val)	single nucleotide variant	Inborn genetic diseases [RCV002661354]	Chr4:8410301 [GRCh38] Chr4:8412028 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1145G>A (p.Arg382Gln)	single nucleotide variant	Inborn genetic diseases [RCV002661915]	Chr4:8394654 [GRCh38] Chr4:8396381 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1093G>A (p.Ala365Thr)	single nucleotide variant	Inborn genetic diseases [RCV002660124]	Chr4:8394706 [GRCh38] Chr4:8396433 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.370C>T (p.His124Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002662325]	Chr4:8415774 [GRCh38] Chr4:8417501 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.529G>A (p.Asp177Asn)	single nucleotide variant	Inborn genetic diseases [RCV002660260]	Chr4:8414306 [GRCh38] Chr4:8416033 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.452A>T (p.Glu151Val)	single nucleotide variant	Inborn genetic diseases [RCV002782132]	Chr4:8414855 [GRCh38] Chr4:8416582 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.511C>G (p.Arg171Gly)	single nucleotide variant	Inborn genetic diseases [RCV002691402]	Chr4:8414324 [GRCh38] Chr4:8416051 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.2060C>T (p.Ser687Phe)	single nucleotide variant	Inborn genetic diseases [RCV002956384]	Chr4:8367004 [GRCh38] Chr4:8368731 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.766C>A (p.Leu256Met)	single nucleotide variant	Inborn genetic diseases [RCV002893276]	Chr4:8405965 [GRCh38] Chr4:8407692 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.854C>T (p.Thr285Ile)	single nucleotide variant	Inborn genetic diseases [RCV002985894]	Chr4:8399575 [GRCh38] Chr4:8401302 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.2002G>A (p.Gly668Ser)	single nucleotide variant	Inborn genetic diseases [RCV002804532]	Chr4:8367062 [GRCh38] Chr4:8368789 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.130A>C (p.Met44Leu)	single nucleotide variant	Inborn genetic diseases [RCV002709751]	Chr4:8416392 [GRCh38] Chr4:8418119 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1663G>C (p.Gly555Arg)	single nucleotide variant	Inborn genetic diseases [RCV002874565]	Chr4:8375143 [GRCh38] Chr4:8376870 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.185C>T (p.Ala62Val)	single nucleotide variant	Inborn genetic diseases [RCV002893433]	Chr4:8415959 [GRCh38] Chr4:8417686 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1534G>A (p.Ala512Thr)	single nucleotide variant	Inborn genetic diseases [RCV002981837]	Chr4:8389176 [GRCh38] Chr4:8390903 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1165C>T (p.Arg389Cys)	single nucleotide variant	Inborn genetic diseases [RCV002813531]	Chr4:8394634 [GRCh38] Chr4:8396361 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1666C>T (p.Arg556Cys)	single nucleotide variant	Inborn genetic diseases [RCV002966029]	Chr4:8375140 [GRCh38] Chr4:8376867 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.763G>A (p.Gly255Ser)	single nucleotide variant	Inborn genetic diseases [RCV002935319]	Chr4:8405968 [GRCh38] Chr4:8407695 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1574T>C (p.Leu525Pro)	single nucleotide variant	Inborn genetic diseases [RCV002944771]	Chr4:8381571 [GRCh38] Chr4:8383298 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.934G>A (p.Val312Met)	single nucleotide variant	Inborn genetic diseases [RCV003254374]	Chr4:8397059 [GRCh38] Chr4:8398786 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.313G>A (p.Ala105Thr)	single nucleotide variant	Inborn genetic diseases [RCV003297747]	Chr4:8415831 [GRCh38] Chr4:8417558 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.877G>A (p.Val293Ile)	single nucleotide variant	Inborn genetic diseases [RCV003197127]	Chr4:8397116 [GRCh38] Chr4:8398843 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.740T>C (p.Ile247Thr)	single nucleotide variant	Inborn genetic diseases [RCV003196897]	Chr4:8405991 [GRCh38] Chr4:8407718 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.546A>T (p.Glu182Asp)	single nucleotide variant	Inborn genetic diseases [RCV003208669]	Chr4:8410353 [GRCh38] Chr4:8412080 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1876G>A (p.Val626Ile)	single nucleotide variant	Inborn genetic diseases [RCV003183774]	Chr4:8373581 [GRCh38] Chr4:8375308 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1613G>A (p.Arg538Lys)	single nucleotide variant	Inborn genetic diseases [RCV003209778]	Chr4:8381532 [GRCh38] Chr4:8383259 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1810G>T (p.Ala604Ser)	single nucleotide variant	Inborn genetic diseases [RCV003265840]	Chr4:8374996 [GRCh38] Chr4:8376723 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	copy number gain	4p16.3 microduplication syndrome [RCV003319592]	Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	copy number gain	Neurodevelopmental disorder [RCV003327612]	Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	copy number loss	not provided [RCV003334269]	Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32	pathogenic
NM_003501.3(ACOX3):c.1917C>T (p.Ala639=)	single nucleotide variant	Inborn genetic diseases [RCV003377211]	Chr4:8370974 [GRCh38] Chr4:8372701 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1925A>C (p.Asp642Ala)	single nucleotide variant	Inborn genetic diseases [RCV003364876]	Chr4:8370966 [GRCh38] Chr4:8372693 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.107C>T (p.Ala36Val)	single nucleotide variant	Inborn genetic diseases [RCV003351766]	Chr4:8416415 [GRCh38] Chr4:8418142 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	copy number loss	not provided [RCV003485411]	Chr4:8379061..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	copy number gain	not provided [RCV003484170]	Chr4:7810354..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
NM_003501.3(ACOX3):c.1404C>T (p.Leu468=)	single nucleotide variant	not provided [RCV003439253]	Chr4:8389631 [GRCh38] Chr4:8391358 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1848G>A (p.Glu616=)	single nucleotide variant	not provided [RCV003439252]	Chr4:8373609 [GRCh38] Chr4:8375336 [GRCh37] Chr4:4p16.1	likely benign
NM_003501.3(ACOX3):c.1236G>A (p.Ser412=)	single nucleotide variant	not provided [RCV003439254]	Chr4:8392397 [GRCh38] Chr4:8394124 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	copy number loss	not specified [RCV003986510]	Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	copy number loss	not specified [RCV003986488]	Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	copy number loss	not specified [RCV003986512]	Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	copy number loss	not provided [RCV003885506]	Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33	pathogenic
NM_003501.3(ACOX3):c.445A>G (p.Arg149Gly)	single nucleotide variant	not provided [RCV003885845]	Chr4:8414862 [GRCh38] Chr4:8416589 [GRCh37] Chr4:4p16.1	benign
NM_003501.3(ACOX3):c.259G>C (p.Glu87Gln)	single nucleotide variant	not provided [RCV003886833]	Chr4:8415885 [GRCh38] Chr4:8417612 [GRCh37] Chr4:4p16.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1673
Count of miRNA genes:	834
Interacting mature miRNAs:	983
Transcripts:	ENST00000356406, ENST00000413009, ENST00000503233, ENST00000508302, ENST00000510365, ENST00000512411, ENST00000514423, ENST00000515797
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

SHGC-32080

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,368,167 - 8,368,316	UniSTS	GRCh37
Build 36	4	8,419,067 - 8,419,216	RGD	NCBI36
Celera	4	8,261,479 - 8,261,628	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,287,522 - 8,287,671	UniSTS
TNG Radiation Hybrid Map	4	5136.0	UniSTS
GeneMap99-GB4 RH Map	4	54.27	UniSTS
Whitehead-RH Map	4	48.9	UniSTS
GeneMap99-G3 RH Map	4	700.0	UniSTS

D4S1213

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,405,118 - 8,405,316	UniSTS	GRCh37
Build 36	4	8,456,018 - 8,456,216	RGD	NCBI36
Celera	4	8,298,421 - 8,298,619	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,324,995 - 8,325,193	UniSTS
Stanford-G3 RH Map	4	699.0	UniSTS
NCBI RH Map	4	102.4	UniSTS

SHGC-149580

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,370,810 - 8,371,133	UniSTS	GRCh37
Build 36	4	8,421,710 - 8,422,033	RGD	NCBI36
Celera	4	8,264,124 - 8,264,447	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,290,168 - 8,290,491	UniSTS
TNG Radiation Hybrid Map	4	5136.0	UniSTS

SHGC-149925

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,371,340 - 8,371,678	UniSTS	GRCh37
Build 36	4	8,422,240 - 8,422,578	RGD	NCBI36
Celera	4	8,264,654 - 8,264,992	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,290,698 - 8,291,036	UniSTS
TNG Radiation Hybrid Map	4	5132.0	UniSTS

st517p6-8d3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,395,306 - 8,395,569	UniSTS	GRCh37
Build 36	4	8,446,206 - 8,446,469	RGD	NCBI36
Celera	4	8,288,612 - 8,288,875	RGD
HuRef	4	8,314,507 - 8,314,770	UniSTS

G19895

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,368,139 - 8,368,388	UniSTS	GRCh37
Build 36	4	8,419,039 - 8,419,288	RGD	NCBI36
Celera	4	8,261,451 - 8,261,700	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,287,494 - 8,287,743	UniSTS

A002B29

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,368,139 - 8,368,388	UniSTS	GRCh37
Build 36	4	8,419,039 - 8,419,288	RGD	NCBI36
Celera	4	8,261,451 - 8,261,700	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,287,494 - 8,287,743	UniSTS
GeneMap99-GB4 RH Map	4	57.59	UniSTS

G33926

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,374,435 - 8,374,678	UniSTS	GRCh37
Build 36	4	8,425,335 - 8,425,578	RGD	NCBI36
Celera	4	8,267,749 - 8,267,992	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,293,793 - 8,294,036	UniSTS

D4S1188

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	8,374,509 - 8,374,658	UniSTS	GRCh37
Build 36	4	8,425,409 - 8,425,558	RGD	NCBI36
Celera	4	8,267,823 - 8,267,972	RGD
Cytogenetic Map	4	p15.3	UniSTS
HuRef	4	8,293,867 - 8,294,016	UniSTS
TNG Radiation Hybrid Map	4	5149.0	UniSTS

G65142

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	p15.3	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

1891

1591

1086

376

805

222

3253

952

816

199

916

1307

164

916

1890

Low

548

1388

640

248

1137

243

1103

1242

2918

220

544

306

288

898

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001101667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001375790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011513565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011513566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416234	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007057968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007057969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007057970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007057971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007057972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008487041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_925000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC104825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA306669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA949869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB873065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB882927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB894256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC930474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC940336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC951665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF457738	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y11411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000356406 ⟹ ENSP00000348775

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,366,282 - 8,440,723 (-)	Ensembl

RefSeq Acc Id:

ENST00000413009 ⟹ ENSP00000413994

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,366,712 - 8,440,723 (-)	Ensembl

RefSeq Acc Id:

ENST00000503233 ⟹ ENSP00000421625

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,366,961 - 8,428,486 (-)	Ensembl

RefSeq Acc Id:

ENST00000508302

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,381,554 - 8,394,891 (-)	Ensembl

RefSeq Acc Id:

ENST00000510365

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,374,468 - 8,415,855 (-)	Ensembl

RefSeq Acc Id:

ENST00000512411

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,366,712 - 8,373,815 (-)	Ensembl

RefSeq Acc Id:

ENST00000514423 ⟹ ENSP00000427321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,410,282 - 8,428,461 (-)	Ensembl

RefSeq Acc Id:

ENST00000515797

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	8,366,712 - 8,374,167 (-)	Ensembl

RefSeq Acc Id:

NM_001101667 ⟹ NP_001095137

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI
GRCh37	4	8,368,009 - 8,442,452 (-)	RGD
Build 36	4	8,418,909 - 8,493,352 (-)	NCBI Archive
Celera	4	8,261,321 - 8,335,759 (-)	RGD
HuRef	4	8,287,364 - 8,362,315 (-)	RGD
CHM1_1	4	8,366,366 - 8,440,788 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

Sequence:

show sequence

AAATGAGAATGGCGCCGCTGGAGATCCTTTCCTGCTTTTGGTTTCCCTGGCAGGGGTTGAACTG
TGGAGTGTGTGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCT
CCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAG
CTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTG
AGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCT
GAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAG
AGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCA
AGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCT
CACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGC
CACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCA
TCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCAC
TCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTT
ATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAG
GAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCC
TCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTT
AAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCG
TGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCG
GCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGG
CGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGG
ACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGG
ACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGA
ATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCC
TTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGAC
AAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCG
CTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCA
GTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCT
GCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCA
AGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGTGGAGCTCACGGTGG
TCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTGCGGGCCGTGCTGGG
GCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCCTGCTCTACCGAGCT
GAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGACTTTGTTCTGGACTCACCG
ATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCAAGG
TGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCTGAA
ATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAATCA
GACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCCGCA
CCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCGGCC
GGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATGTCT
ACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCAGCT
CCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCATCT
AGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCAACT
CTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATCATC
TGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAACTGG
AAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTCTCC
AACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375783 ⟹ NP_001362712

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGGCTCTTATCACGCGATGGCATCCACTGTGG
AAGGAGGCGACACAGCTCTGCTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAG
AGCGTCCTTCAGCTGGAAGGAGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAG
AAAACCATCTTCTCAGCTCTTGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGT
CCTTGGAGAAGTATCGCGAGCTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCT
CAGTGTCGAAGACATGTTCAAGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATG
TATGACTCTTCTCTGGCTGCCAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACA
GTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATG
TTTTGCTCTGACCGAATTAAGCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTAC
GATCCTGCCACTGAGGAATTCATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTG
GCAACATGGGCAAGACAGCCACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCA
GTGCCATGGGCTGCATCCCTTTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCT
GGAGTGATGGTTGGCGACATAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCA
TGTTCCACAAGGTCAGAGTTCCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGA
GGGCACCTATGTCAGCCCCTTTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTG
TCCTCGGGCCGGGTCTCCATCGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCG
CTCTTCGCTTCTCAGCCACTCGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCT
TGAGTATCCAATGCAGCAATGGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCAT
TTCTCCAAGTCGCTCTTCCTGGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCA
GCGCCAGACAGGCAGAGCTTGGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGC
CTCGTGGACCACCCAGCAAGGAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTG
GCCATGAACCGGTTGGGTGTCCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACA
ACAACATCCTGCTGCAGCAGACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGA
TGGAGCTTGCTTCCGCAGTCCGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTT
GACCAGAAGTTTGAGGTCTCCAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCAT
ACAAGTGGCTGGTTTGCTACCTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATC
AGGAAGCAGTGACTTTGAAGCAAGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTG
GCCTTCGTGGAGCTCACGGTGGTCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGC
CCTCGCTGCGGGCCGTGCTGGGGCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCA
CGCGGCCCTGCTCTACCGAGGAGGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGC
GCCGTCCTGGCTTTGTGTTCCCAGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTC
CTCCTGACTTTGTTCTGGACTCACCGATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTG
GGGCGCTGTCCTGCAGGAAAGCAAGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTG
AACAAACCTGTCATAGGAAGTCTGAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAG
TCTAATGAAACGAAGGGAACTAATCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGA
GATTGCTGCTGCTTTCTGAGCCCGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCA
GGCGGACGGGAGGGAGGCACCCGGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTG
GAAAAGAAATGCAGATGATCATGTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTC
GCACATTCAGTTTTCAGGGTTCAGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTT
CTGGTCAGACAACCTGTGATTCATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAAT
GATGCCAGTCTGGTTCTTTGTCAACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAA
CCTTATTAATTTGCACATAGATCATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGT
TTGATTACTTTCTTTTGTGGAACTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAA
TGATTTGAATGGGCAATTCAGTCTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAAT
CACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375784 ⟹ NP_001362713

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

Sequence:

show sequence

AAATGAGAATGGCGCCGCTGGAGATCCTTTCCTGCTTTTGGTTTCCCTGGCAGGGGTTGAACTG
TGGAGTGTGTGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCT
CCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAG
CTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTG
AGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCT
GAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAG
AGCCCTCTGAAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATA
TTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGCCACGGCAG
TAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCATCATACAT
TCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCACTCACGCGG
TGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTTATCGTGCA
GATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAGGAAAAAAA
CTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCCTCGCCAGA
GCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTTAAGGACGT
CAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCGTGAGCCTG
GCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCGGCGTCAGT
TTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGGCGCTTGCT
TCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGGACCTGGTG
GAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGGACGTGAGA
TCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGAATTCAGGA
ATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCCTTAGAGAT
GACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGACAAGCAACT
ATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCGCTGAAGTC
AGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCAGTGTTGCC
GACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCTGCTCCGAG
AGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCAAGGAACAA
ATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGTGGAGCTCACGGTGGTCCAGAGG
TTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTGCGGGCCGTGCTGGGGCGGCTCA
GTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCCTGCTCTACCGAGGAGGATACTT
CTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGCGCCGTCCTGGCTTTGTGTTCCCAGCTGAAA
GACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGACTTTGTTCTGGACTCACCGATTG
GCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCAAGGTGTT
GGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCTGAAATCG
AAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAATCAGACG
TGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCCGCACCTG
TGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCGGCCGGCT
GGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATGTCTACCT
GATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCAGCTCCTT
TCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCATCTAGAT
TTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCAACTCTCC
CTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATCATCTGAA
TGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAACTGGAAAT
TTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTCTCCAACC
GCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375785 ⟹ NP_001362714

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

Sequence:

show sequence

AAATGAGAATGGCGCCGCTGGAGATCCTTTCCTGCTTTTGGTTTCCCTGGCAGGGGTTGAACTG
TGGAGTGTGTGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCT
CCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAG
CTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTG
AGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCT
GAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAG
AGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCA
AGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCT
CACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGC
CACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCA
TCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCAC
TCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTT
ATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAG
GAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCC
TCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTT
AAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCG
TGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCG
GCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGG
CGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGG
ACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGG
ACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGA
ATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCC
TTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGAC
AAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCG
CTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCA
GTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCT
GCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCA
AGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGTGGAGCTCACGGTGG
TCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTGCGGGCCGTGCTGGG
GCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCCTGCTCTACCGAGGA
GGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGCGCCGTCCTGGCTTTGTGTTCCC
AGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCAAGGTGTTGGAGCGGGCATCCTG
GTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCTGAAATCGAAGCTCTAGTGGGAC
TGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAATCAGACGTGGACCTCAACTTCT
GATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCCGCACCTGTGCGCCTAAACTGCT
GATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCGGCCGGCTGGACTAATCTGGGAT
CGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATGTCTACCTGATGCGCCGTGGGTT
TTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCAGCTCCTTTCTCTAAAGTAAACA
GCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCATCTAGATTTTTTACCGAGCTCC
ACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCAACTCTCCCTCGGCTTTGTCACA
TAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATCATCTGAATGTCGTGGTTTAAGA
CTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAACTGGAAATTTCCATCGAGGAAAT
GTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTCTCCAACCGCCCCCCTCCCCCTG
CCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375786 ⟹ NP_001362715

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGGCTCTTATCACGCGATGGCATCCACTGTGG
AAGGAGGCGACACAGCTCTGCTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAG
AGCGTCCTTCAGCTGGAAGGAGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAG
AAAACCATCTTCTCAGCTCTTGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGT
CCTTGGAGAAGTATCGCGAGCTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCT
CAGTGTCGAAGACATGTTCAAGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATG
TATGACTCTTCTCTGGCTGCCAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACA
GTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATG
TTTTGCTCTGACCGAATTAAGCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTAC
GATCCTGCCACTGAGGAATTCATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTG
GCAACATGGGCAAGACAGCCACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCA
GTGCCATGGGCTGCATCCCTTTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCT
GGAGTGATGGTTGGCGACATAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCA
TGTTCCACAAGGTCAGAGTTCCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGA
GGGCACCTATGTCAGCCCCTTTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTG
TCCTCGGGCCGGGTCTCCATCGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCG
CTCTTCGCTTCTCAGCCACTCGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCT
TGAGTATCCAATGCAGCAATGGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCAT
TTCTCCAAGTCGCTCTTCCTGGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCA
GCGCCAGACAGGCAGAGCTTGGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGC
CTCGTGGACCACCCAGCAAGGAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTG
GCCATGAACCGGTTGGGTGTCCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACA
ACAACATCCTGCTGCAGCAGACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGA
TGGAGCTTGCTTCCGCAGTCCGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTT
GACCAGAAGTTTGAGGTCTCCAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCAT
ACAAGTGGCTGGTTTGCTACCTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATC
AGGAAGCAGTGACTTTGAAGCAAGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTG
GCCTTCGTGGAGCTCACGGTGGTCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGC
CCTCGCTGCGGGCCGTGCTGGGGCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCA
CGCGGCCCTGCTCTACCGAGGAGGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGC
GCCGTCCTGGCTTTGTGTTCCCAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCA
AGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCT
GAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAA
TCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCC
GCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCG
GCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATG
TCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCA
GCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCA
TCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCA
ACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATC
ATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAAC
TGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTC
TCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375787 ⟹ NP_001362716

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGGCTCTTATCACGCGATGGCATCCACTGTGG
AAGGAGGCGACACAGCTCTGCTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAG
AGCGTCCTTCAGCTGGAAGGAGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAG
AAAACCATCTTCTCAGCTCTTGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGT
CCTTGGAGAAGTATCGCGAGCTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCT
CAGTGTCGAAGACATGTTCAAGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATG
TATGACTCTTCTCTGGCTGCCAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACA
GTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATG
TTTTGCTCTGACCGAATTAAGCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTAC
GATCCTGCCACTGAGGAATTCATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTG
GCAACATGGGCAAGACAGCCACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCA
GTGCCATGGGCTGCATCCCTTTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCT
GGAGTGATGGTTGGCGACATAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCA
TGTTCCACAAGGTCAGAGTTCCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGA
GGGCACCTATGTCAGCCCCTTTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTG
TCCTCGGGCCGGGTCTCCATCGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCG
CTCTTCGCTTCTCAGCCACTCGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCT
TGAGTATCCAATGCAGCAATGGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCAT
TTCTCCAAGTCGCTCTTCCTGGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCA
GCGCCAGACAGGCAGAGCTTGGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGC
CTCGTGGACCACCCAGCAAGGAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTG
GCCATGAACCGGTTGGGTGTCCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACA
ACAACATCCTGCTGCAGCAGACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGA
TGGAGCTTGCTTCCGCAGTCCGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTT
GACCAGAAGTTTGAGGTCTCCAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCAT
ACAAGTGGCTGGTTTGCTACCTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATC
AGGAAGCAGTGACTTTGAAGCAAGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTG
GCCTTCGTGGAGCTCACGGTGGTCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGC
CCTCGCTGCGGGCCGTGCTGGGGCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCA
CGCGGCCCTGCTCTACCGAGGAGGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGC
GCCGTCCTGGCTTTGTGTTCCCAGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTC
CTCCTGACTTTGTTCTGGACTCACCGATTGGCAGAGCCGACGGCGAGAACACGCCGGAGATTGC
TGCTGCTTTCTGAGCCCGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGA
CGGGAGGGAGGCACCCGGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAG
AAATGCAGATGATCATGTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACAT
TCAGTTTTCAGGGTTCAGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTC
AGACAACCTGTGATTCATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCC
AGTCTGGTTCTTTGTCAACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTAT
TAATTTGCACATAGATCATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATT
ACTTTCTTTTGTGGAACTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTT
GAATGGGCAATTCAGTCTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTT
ATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375788 ⟹ NP_001362717

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGGCTCTTATCACGCGATGGCATCCACTGTGG
AAGGAGGCGACACAGCTCTGCTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAG
AGCGTCCTTCAGCTGGAAGGAGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAG
AAAACCATCTTCTCAGCTCTTGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGT
CCTTGGAGAAGTATCGCGAGCTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCT
CAGTGTCGAAGACATGTTCAAGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATG
TATGACTCTTCTCTGGCTGCCAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACA
GTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATG
TTTTGCTCTGACCGAATTAAGCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTAC
GATCCTGCCACTGAGGAATTCATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTG
GCAACATGGGCAAGACAGCCACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCA
GTGCCATGGGCTGCATCCCTTTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCT
GGAGTGATGGTTGGCGACATAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCA
TGTTCCACAAGGTCAGAGTTCCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGA
GGGCACCTATGTCAGCCCCTTTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTG
TCCTCGGGCCGGGTCTCCATCGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCG
CTCTTCGCTTCTCAGCCACTCGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCT
TGAGTATCCAATGCAGCAATGGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCAT
TTCTCCAAGTCGCTCTTCCTGGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCA
GCGCCAGACAGGCAGAGCTTGGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGC
CTCGTGGACCACCCAGCAAGGAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTG
GCCATGAACCGGTTGGGTGTCCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACA
ACAACATCCTGCTGCAGCAGACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGA
TGGAGCTTGCTTCCGCAGTCCGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTT
GACCAGAAGTTTGAGGTCTCCAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCAT
ACAAGTGGCTGGTTTGCTACCTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATC
AGGAAGCAGTGACTTTGAAGCAAGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTG
GCCTTCGTGGAGCTCACGGTGGTCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGC
CCTCGCTGCGGGCCGTGCTGGGGCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCA
CGCGGCCCTGCTCTACCGAGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCC
TGACTTTGTTCTGGACTCACCGATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGC
GCTGTCCTGCAGGAAAGCAAGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACA
AACCTGTCATAGGAAGTCTGAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTA
ATGAAACGAAGGGAACTAATCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATT
GCTGCTGCTTTCTGAGCCCGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCG
GACGGGAGGGAGGCACCCGGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAA
AGAAATGCAGATGATCATGTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCAC
ATTCAGTTTTCAGGGTTCAGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGG
TCAGACAACCTGTGATTCATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATG
CCAGTCTGGTTCTTTGTCAACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTT
ATTAATTTGCACATAGATCATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGA
TTACTTTCTTTTGTGGAACTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGAT
TTGAATGGGCAATTCAGTCTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACT
TTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375789 ⟹ NP_001362718

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGAAAACCATCTTCTCAGCTCTTGAGAATGAC
CCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCTGAACTTCC
TTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAGAGCCCTCT
GAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCAAGTACCTC
CTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATA
TTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGCCACGGCAG
TAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCATCATACAT
TCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCACTCACGCGG
TGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTTATCGTGCA
GATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAGGAAAAAAA
CTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCCTCGCCAGA
GCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTTAAGGACGT
CAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCGTGAGCCTG
GCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCGGCGTCAGT
TTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGGCGCTTGCT
TCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGGACCTGGTG
GAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGGACGTGAGA
TCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGAATTCAGGA
ATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCCTTAGAGAT
GACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGACAAGCAACT
ATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCGCTGAAGTC
AGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCAGTGTTGCC
GACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCTGCTCCGAG
AGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCAAGGAACAA
ATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGTGGAGCTCACGGTGGTCCAGAGG
TTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTGCGGGCCGTGCTGGGGCGGCTCA
GTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCCTGCTCTACCGAGGAGGATACTT
CTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGCGCCGTCCTGGCTTTGTGTTCCCAGCTGAAA
GACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGACTTTGTTCTGGACTCACCGATTG
GCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCAAGGTGTT
GGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCTGAAATCG
AAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAATCAGACG
TGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCCGCACCTG
TGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCGGCCGGCT
GGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATGTCTACCT
GATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCAGCTCCTT
TCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCATCTAGAT
TTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCAACTCTCC
CTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATCATCTGAA
TGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAACTGGAAAT
TTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTCTCCAACC
GCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_001375790 ⟹ NP_001362719

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

Sequence:

show sequence

AGTGGGGCCAGGCCAGAGACAGCTGCGCTGTGCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTC
GCGGGCCGACAGGCATCCCCTGAGCGCCTGCTGGGTGAGTTGGACGGTGCAGAGCAGCGAGGAC
CGGGGAGCCCGAAGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTG
CTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGG
AGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCT
TGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAG
CTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCA
AGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGC
CAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACAT
CTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAA
GCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATT
CATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCC
ACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCT
TTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACAT
AGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTT
CCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCT
TTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCAT
CGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACT
CGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAAT
GGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCT
GGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTT
GGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAG
GAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGT
CCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAG
ACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTC
CGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTC
CAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTAC
CTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAG
CAAGGAACAAATGCCAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGCAAGGTGTT
GGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTCTGAAATCG
AAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTAATCAGACG
TGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCCCGCACCTG
TGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCCGGCCGGCT
GGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCATGTCTACCT
GATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTCAGCTCCTT
TCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTCATCTAGAT
TTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTCAACTCTCC
CTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGATCATCTGAA
TGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAACTGGAAAT
TTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGTCTCCAACC
GCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

NM_003501 ⟹ NP_003492

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI
GRCh37	4	8,368,009 - 8,442,452 (-)	RGD
Build 36	4	8,418,909 - 8,493,352 (-)	NCBI Archive
Celera	4	8,261,321 - 8,335,759 (-)	RGD
HuRef	4	8,287,364 - 8,362,315 (-)	RGD
CHM1_1	4	8,366,366 - 8,440,788 (-)	NCBI
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

Sequence:

show sequence

AAATGAGAATGGCGCCGCTGGAGATCCTTTCCTGCTTTTGGTTTCCCTGGCAGGGGTTGAACTG
TGGAGTGTGTGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCT
CCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAG
CTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTG
AGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCT
GAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAG
AGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCA
AGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCT
CACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGC
CACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCA
TCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCAC
TCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTT
ATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAG
GAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCC
TCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTT
AAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCG
TGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCG
GCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGG
CGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGG
ACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGG
ACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGA
ATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCC
TTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGAC
AAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCG
CTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCA
GTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCT
GCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCA
AGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGTGGAGCTCACGGTGG
TCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTGCGGGCCGTGCTGGG
GCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCCTGCTCTACCGAGGA
GGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGCGCCGTCCTGGCTTTGTGTTCCC
AGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGACTTTGTTCTGGACTC
ACCGATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGAAAGC
AAGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGAAGTC
TGAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGAACTA
ATCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTGAGCC
CGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGCACCC
GGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGATCAT
GTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGGGTTC
AGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTGATTC
ATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTTTGTC
AACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACATAGAT
CATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGTGGAA
CTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATTCAGT
CTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAA

hide sequence

RefSeq Acc Id:

XM_011513565 ⟹ XP_011511867

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,435,967 (-)	NCBI

Sequence:

show sequence

TAGCTCCAGCAAGACCAGATCTGAGAGGGCCCACTTGACTATCTTGACTTCCTTCCTTGGCCTC
TTGAGGCTCCGATCTTCCCCTTCAAGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGC
GACACAGCTCTGCTCCCAGAATTCCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCT
TCAGCTGGAAGGAGCTGGCGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCAT
CTTCTCAGCTCTTGAGAATGACCCTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAG
AAGTATCGCGAGCTGAACTTCCTTCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCG
AAGACATGTTCAAGAGCCCTCTGAAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTC
TTCTCTGGCTGCCAAGTACCTCCTCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGT
TCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTC
TGACCGAATTAAGCCACGGCAGTAATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGC
CACTGAGGAATTCATCATACATTCCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATG
GGCAAGACAGCCACTCACGCGGTGGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATG
GGCTGCATCCCTTTATCGTGCAGATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGAT
GGTTGGCGACATAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCAC
AAGGTCAGAGTTCCTCGCCAGAGCCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCT
ATGTCAGCCCCTTTAAGGACGTCAGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGG
CCGGGTCTCCATCGTGAGCCTGGCCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGC
TTCTCAGCCACTCGGCGTCAGTTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATC
CAATGCAGCAATGGCGCTTGCTTCCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAA
GTCGCTCTTCCTGGACCTGGTGGAGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGA
CAGGCAGAGCTTGGACGTGAGATCCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGA
CCACCCAGCAAGGAATTCAGGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAA
CCGGTTGGGTGTCCTTAGAGATGACAACGATCCCAACTGCACATACGAAGGTGACAACAACATC
CTGCTGCAGCAGACAAGCAACTATTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTT
GCTTCCGCAGTCCGCTGAAGTCAGTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAA
GTTTGAGGTCTCCAGTGTTGCCGACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGG
CTGGTTTGCTACCTGCTCCGAGAGACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCA
GTGACTTTGAAGCAAGGAACAAATGCCAGGTGTCCCACGGCCGTCCGTTGGCGCTGGCCTTCGT
GGAGCTCACGGTGGTCCAGAGGTTCCACGAGCACGTGCACCAGCCTTCCGTGCCGCCCTCGCTG
CGGGCCGTGCTGGGGCGGCTCAGTGCTCTGTACGCCCTGTGGTCCCTGAGCCGCCACGCGGCCC
TGCTCTACCGAGGAGGATACTTCTCCGGTGAGCAGGCGGGAGAAGTGTTGGAGAGCGCCGTCCT
GGCTTTGTGTTCCCAGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGAC
TTTGTTCTGGACTCACCGATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTG
TCCTGCAGGAAAGCAAGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACC
TGTCATAGGAAGTCTGAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGA
AACGAAGGGAACTAATCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTG
CTGCTTTCTGAGCCCGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACG
GGAGGGAGGCACCCGGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAA
ATGCAGATGATCATGTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTC
AGTTTTCAGGGTTCAGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAG
ACAACCTGTGATTCATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAG
TCTGGTTCTTTGTCAACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTA
ATTTGCACATAGATCATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTAC
TTTCTTTTGTGGAACTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGA
ATGGGCAATTCAGTCTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTAT
TGGT

hide sequence

RefSeq Acc Id:

XM_011513566 ⟹ XP_011511868

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,428,448 (-)	NCBI

Sequence:

show sequence

ACGGACGGAGGCCGAGAGGCGTGGCGGGGGAGCAGTGGGGCCAGGCCAGAGACAGCTGCGCTGT
GCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTCGCGGGCCGACAGGCATCCCCTGAGCGCCTGC
TGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCTCCCAGAATT
CCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAGCTGGCGCTG
TTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTGAGAATGACC
CTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCTGAACTTCCT
TCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAGAGCCCTCTG
AAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCAAGTACCTCC
TCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATAT
TCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGCCACGGCAGT
AATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCATCATACATT
CCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCACTCACGCGGT
GGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTTATCGTGCAG
ATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAGGAAAAAAAC
TCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCCTCGCCAGAG
CCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTTAAGGACGTC
AGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCGTGAGCCTGG
CCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCGGCGTCAGTT
TGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGGCGCTTGCTT
CCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGGACCTGGTGG
AGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGGACGTGAGAT
CCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGAATTCAGGAA
TGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCCTTAGAGATG
ACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGACAAGCAACTA
TTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCGCTGAAGTCA
GTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCAGTGTTGCCG
ACTGCTTGGACTCTGCAGTCGCCCTGGCAGCATACAAGTGGCTGGTTTGCTACCTGCTCCGAGA
GACTTATCAAAAATTAAACCAAGAGAAAAGATCAGGAAGCAGTGACTTTGAAGCAAGGAACAAA
TGCCAGCTGAAAGACGATGCAGTTGCCCTGGTAGACGTGATCGCTCCTCCTGACTTTGTTCTGG
ACTCACCGATTGGCAGAGCCGACGGCGAGCTCTACAAAAACCTCTGGGGCGCTGTCCTGCAGGA
AAGCAAGGTGTTGGAGCGGGCATCCTGGTGGCCAGAGTTTTCTGTGAACAAACCTGTCATAGGA
AGTCTGAAATCGAAGCTCTAGTGGGACTGGCACACATTCAGCCAAGTCTAATGAAACGAAGGGA
ACTAATCAGACGTGGACCTCAACTTCTGATTCCAGAACACGCCGGAGATTGCTGCTGCTTTCTG
AGCCCGCACCTGTGCGCCTAAACTGCTGATTGGCCTCAACTGCCCAGGCGGACGGGAGGGAGGC
ACCCGGCCGGCTGGACTAATCTGGGATCGCGGTGATTTGCAGCGTGGAAAAGAAATGCAGATGA
TCATGTCTACCTGATGCGCCGTGGGTTTTTTGATAATTAGAATTTCGCACATTCAGTTTTCAGG
GTTCAGCTCCTTTCTCTAAAGTAAACAGCCCATTGTCAGGGATCTTCTGGTCAGACAACCTGTG
ATTCATCTAGATTTTTTACCGAGCTCCACTTCATTGAGAAGTCAATGATGCCAGTCTGGTTCTT
TGTCAACTCTCCCTCGGCTTTGTCACATAATTGAATTATGTCATAACCTTATTAATTTGCACAT
AGATCATCTGAATGTCGTGGTTTAAGACTTAAGGAGGAACATCTGTTTGATTACTTTCTTTTGT
GGAACTGGAAATTTCCATCGAGGAAATGTTTTTTTAAAAAGTCTAATGATTTGAATGGGCAATT
CAGTCTCCAACCGCCCCCCTCCCCCTGCCGCCAGTTATATACAAATCACTTTATTGGTAACATG
TATGATCTGTTTGTC

hide sequence

RefSeq Acc Id:

XM_024454237 ⟹ XP_024310005

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,386,142 - 8,428,448 (-)	NCBI

Sequence:

show sequence

ACGGACGGAGGCCGAGAGGCGTGGCGGGGGAGCAGTGGGGCCAGGCCAGAGACAGCTGCGCTGT
GCGGGCAGCTAGTCCCAGTACTCCGAGTCGGTCGCGGGCCGACAGGCATCCCCTGAGCGCCTGC
TGGGCTCTTATCACGCGATGGCATCCACTGTGGAAGGAGGCGACACAGCTCTGCTCCCAGAATT
CCCCAGGGGGCCCCTCGATGCCTACCGAGCAAGAGCGTCCTTCAGCTGGAAGGAGCTGGCGCTG
TTCACGGAAGGGGAGGGCATGCTCCGCTTTAAGAAAACCATCTTCTCAGCTCTTGAGAATGACC
CTCTTTTCGCTCGTTCCCCTGGAGCCGATCTGTCCTTGGAGAAGTATCGCGAGCTGAACTTCCT
TCGATGCAAGCGGATCTTCGAGTATGACTTCCTCAGTGTCGAAGACATGTTCAAGAGCCCTCTG
AAGGTCCCCGCCTTGATTCAGTGCCTGGGCATGTATGACTCTTCTCTGGCTGCCAAGTACCTCC
TCCATAGCTTGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATAT
TCAAAAGATCTTCAGGATGGAGATTTTTGGATGTTTTGCTCTGACCGAATTAAGCCACGGCAGT
AATACCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTGAGGAATTCATCATACATT
CCCCTGATTTCGAAGCTGCCAAGTTTTGGGTTGGCAACATGGGCAAGACAGCCACTCACGCGGT
GGTGTTTGCTAAGCTGTGTGTGCCAGGGGACCAGTGCCATGGGCTGCATCCCTTTATCGTGCAG
ATCCGGGACCCGAAGACCCTTCTTCCCATGCCTGGAGTGATGGTTGGCGACATAGGAAAAAAAC
TCGGGCAGAACGGTCTGGATAATGGTTTCGCCATGTTCCACAAGGTCAGAGTTCCTCGCCAGAG
CCTTCTGAACCGGATGGGAGACGTCACCCCCGAGGGCACCTATGTCAGCCCCTTTAAGGACGTC
AGGCAGCGCTTTGGAGCGTCCCTGGGGAGCCTGTCCTCGGGCCGGGTCTCCATCGTGAGCCTGG
CCATCCTTAACCTAAAGCTGGCCGTGGCCATCGCTCTTCGCTTCTCAGCCACTCGGCGTCAGTT
TGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGCAGCAATGGCGCTTGCTT
CCATATCTGGCAGCTGTCTACGCCTTAGACCATTTCTCCAAGTCGCTCTTCCTGGACCTGGTGG
AGCTCCAGCGAGGACTTGCATCGGGAGACCGCAGCGCCAGACAGGCAGAGCTTGGACGTGAGAT
CCACGCCCTGGCATCGGCCAGCAAGCCCCTGGCCTCGTGGACCACCCAGCAAGGAATTCAGGAA
TGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCATGAACCGGTTGGGTGTCCTTAGAGATG
ACAACGATCCCAACTGCACATACGAAGGTGACAACAACATCCTGCTGCAGCAGACAAGCAACTA
TTTGCTGGGTCTCCTGGCACACCAGGTCCACGATGGAGCTTGCTTCCGCAGTCCGCTGAAGTCA
GTGGACTTTCTGGACGCCTATCCCGGCATCCTTGACCAGAAGTTTGAGGTCTCCAGTGTTGCCG
ACTGCTTGGACTCTGCAGTTCTGGGGCTGGCGGCCAGCATGATGGAGAACCTGTGCCTGCCCTC
ATGGGACTTTACAGTCTAGACCAGCAGACACAGAAACATCCCAAGGCCTCAGTCTTAGGGCAGC
AGGAATTCTGCAAAGCAGTGATCCTGGCTGGTGAGGTGGAGCGTGGCTGGTGACCACCTTGCAG
GGGCCTTGGCCTTTGAATTGAGGTCAGTGAAAGGCGGGGGCAGCCATGGGGACCCCCGATGGAC
GGGTGTGTCAGGAGGCGGAGGCAGCAGGGCCCAGCCCATGCCGAGCTCATCTCGATGTGAGCAT
GCATCTCGTTCCCCTGCTGTGAATGACGGGAGGTGAGCGCAAGAGGCCTGGTGGAAAGGGGTGT
GCTGTTTGTTTTGATGATTCATATTTTTAAAAATGTTCCTCATGGGAAAAGGCCACTCTGGCTG
CTCTGTGGAAATGGAGGTGAGAGGCGGCTGGGACAGGTGAGGGGGTCTGCCCTGCGCCCCCACA
CAGAAGCACCCAGCCGAGCTCTGCGTGTCCTACAGGGCACTCCTGAAGGCTCCCTTGGTGCCAG
CTGCCTGAGCGCAGGGAGGGGCGGAGCGAGGATTCAAACCCAAGCCTGTGGGACCGCAAAGCTC
GGGATCTCTCGTTACTGCTCCTGGATGCTTCTTGCCCAGTGGTCTGGGTGCGATTTGACAGAAG
AGCAGGGCTGGAGCTGCCCCCACCTCCGTGCCACCCGTGTCCCTGTCAAATGCCTTCCTCCCAC
CACAGCCCCCGTCTGTAAAGCCGCGTATCACAGAGAACAGCTCAAAGCCGCAGCAACGCCTCCA
TCTCGCCATCGCCTCACTCAGCAGTATTTAGTGAATGTCTTCACTTTGCCACCAAAGCACCTAT
TTGTGCAGAAGAGAAGGGCCGAGAGGGGTCCCGACGCCCTGTCCCGGCGGGCCAGGTAGAAACT
GACTGCTCCCGTGACACCCGAGACGTGGAAGAGTAGCCCACCTTCCTGAGTGAGAGAGACGTCA
GCTCCCGCCAGGCTGCCGGGGTTGATCCCGGTCCCTCCTCCTGCTGGCCGTGGAACCTACACCA
AGTCCCTCAGCCTTCCTGCCTCGGTTTCCTCATCTGCAGCACGGGGACGGGGATGGTACCCCCT
TCATAAGGTGTTTGTACCGTGGACTGAGTTCATGCACGTAAAGCACTTAGTGCAGCACTTGGCG
CCACATCAGTGCTCAGCTCAGCAGCCACAGAGTTTGGACAGGAACCGCCCTCGAGGTGCCACAC
GTTCAACTGGGCAGATAGAGCGGGGACTTGGAGATGGAGGATGCTCTTGGCTTTGCATTCAGGA
GACCAGAATGTGAGGCTTCCCTGGGGTTCTGGGAGGCCCCTGGATCCTCGGGAGGAGGGAGCAC
TGGCCTCCCTCATGCAGGGGACAGGCACACATGGAGGACGCGTTCCAGCCATCAGGACCGACGC
CGTGGATGTGATAGCAGCCCCCGAGCGTGTGTCCTTGTCCGTCTCCAGCCCTACAGGCTACTTC
CTTGTTCACACGGCAAAGAACAGGACAACAGCCGTGGCCGAAGCCGGTGTGGAGCCTGGGCCGG
TCCGGCTTCCCAGCGCCTTCCCCTGCCCGCACCGTCAGCATCGTCATCAGGAAGCGTCTGCATC
ACTGCTTGCTTTCTCGTGGTCACTGCGCTGGGTTACAGCTTCTGACGGTAACTAACCGTGCAGA
TCTTAGCCTGCCTTTTTGGGTGCCAGTGGGAAACGGGGACACGTTTGATGACCTATTTCTGATG
TTTGCAAGTCACTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG
GAGTGCAGTGGTATG

hide sequence

RefSeq Acc Id:

XM_047416229 ⟹ XP_047272185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI

RefSeq Acc Id:

XM_047416230 ⟹ XP_047272186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI

RefSeq Acc Id:

XM_047416231 ⟹ XP_047272187

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,366,282 - 8,440,723 (-)	NCBI

RefSeq Acc Id:

XM_047416233 ⟹ XP_047272189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,386,142 - 8,440,723 (-)	NCBI

RefSeq Acc Id:

XM_047416234 ⟹ XP_047272190

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,386,142 - 8,428,448 (-)	NCBI

RefSeq Acc Id:

XM_054350944 ⟹ XP_054206919

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,416,491 (-)	NCBI

RefSeq Acc Id:

XM_054350945 ⟹ XP_054206920

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

RefSeq Acc Id:

XM_054350946 ⟹ XP_054206921

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,416,490 (-)	NCBI

RefSeq Acc Id:

XM_054350947 ⟹ XP_054206922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,412,032 (-)	NCBI

RefSeq Acc Id:

XM_054350948 ⟹ XP_054206923

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

RefSeq Acc Id:

XM_054350949 ⟹ XP_054206924

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XM_054350950 ⟹ XP_054206925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,346,177 - 8,420,469 (-)	NCBI

RefSeq Acc Id:

XR_007057968

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,355,305 - 8,428,448 (-)	NCBI

RefSeq Acc Id:

XR_007057969

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,355,305 - 8,440,723 (-)	NCBI

RefSeq Acc Id:

XR_007057970

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,355,305 - 8,428,448 (-)	NCBI

RefSeq Acc Id:

XR_007057971

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,370,908 - 8,428,448 (-)	NCBI

RefSeq Acc Id:

XR_007057972

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,386,142 - 8,428,448 (-)	NCBI

RefSeq Acc Id:

XR_008487034

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,337,453 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XR_008487035

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,337,453 - 8,420,469 (-)	NCBI

RefSeq Acc Id:

XR_008487036

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,337,453 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XR_008487037

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,350,805 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XR_008487038

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,361,445 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XR_008487039

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,361,445 - 8,408,193 (-)	NCBI

RefSeq Acc Id:

XR_008487040

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,361,445 - 8,420,469 (-)	NCBI

RefSeq Acc Id:

XR_008487041

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	8,361,445 - 8,408,193 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001095137	(Get FASTA)	NCBI Sequence Viewer
	NP_001362712	(Get FASTA)	NCBI Sequence Viewer
	NP_001362713	(Get FASTA)	NCBI Sequence Viewer
	NP_001362714	(Get FASTA)	NCBI Sequence Viewer
	NP_001362715	(Get FASTA)	NCBI Sequence Viewer
	NP_001362716	(Get FASTA)	NCBI Sequence Viewer
	NP_001362717	(Get FASTA)	NCBI Sequence Viewer
	NP_001362718	(Get FASTA)	NCBI Sequence Viewer
	NP_001362719	(Get FASTA)	NCBI Sequence Viewer
	NP_003492	(Get FASTA)	NCBI Sequence Viewer
	XP_011511867	(Get FASTA)	NCBI Sequence Viewer
	XP_011511868	(Get FASTA)	NCBI Sequence Viewer
	XP_024310005	(Get FASTA)	NCBI Sequence Viewer
	XP_047272185	(Get FASTA)	NCBI Sequence Viewer
	XP_047272186	(Get FASTA)	NCBI Sequence Viewer
	XP_047272187	(Get FASTA)	NCBI Sequence Viewer
	XP_047272189	(Get FASTA)	NCBI Sequence Viewer
	XP_047272190	(Get FASTA)	NCBI Sequence Viewer
	XP_054206919	(Get FASTA)	NCBI Sequence Viewer
	XP_054206920	(Get FASTA)	NCBI Sequence Viewer
	XP_054206921	(Get FASTA)	NCBI Sequence Viewer
	XP_054206922	(Get FASTA)	NCBI Sequence Viewer
	XP_054206923	(Get FASTA)	NCBI Sequence Viewer
	XP_054206924	(Get FASTA)	NCBI Sequence Viewer
	XP_054206925	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH17053	(Get FASTA)	NCBI Sequence Viewer
	BAG36053	(Get FASTA)	NCBI Sequence Viewer
	CAA72214	(Get FASTA)	NCBI Sequence Viewer
	CBF60575	(Get FASTA)	NCBI Sequence Viewer
	CBF65729	(Get FASTA)	NCBI Sequence Viewer
	CBF73112	(Get FASTA)	NCBI Sequence Viewer
	CBU85819	(Get FASTA)	NCBI Sequence Viewer
	CBU90600	(Get FASTA)	NCBI Sequence Viewer
	CBU96016	(Get FASTA)	NCBI Sequence Viewer
	EAW82339	(Get FASTA)	NCBI Sequence Viewer
	EAW82340	(Get FASTA)	NCBI Sequence Viewer
	EAW82341	(Get FASTA)	NCBI Sequence Viewer
	EAW82342	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000348775
	ENSP00000348775.4
	ENSP00000413994
	ENSP00000413994.2
	ENSP00000421625
	ENSP00000421625.1
	ENSP00000427321.1
GenBank Protein	O15254	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003492 ⟸ NM_003501
- Peptide Label:	isoform a
- UniProtKB:	Q96AJ8 (UniProtKB/Swiss-Prot), O15254 (UniProtKB/Swiss-Prot), B2R856 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGMLRFKKTIFSALENDPLFARS PGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLKVPALIQCLGMYDSSLAAKYLLHSLVF GSAVYSSGSERHLTYIQKIFRMEIFGCFALTELSHGSNTKAIRTTAHYDPATEEFIIHSPDFEA AKFWVGNMGKTATHAVVFAKLCVPGDQCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGL DNGFAMFHKVRVPRQSLLNRMGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLK LAVAIALRFSATRRQFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGL ASGDRSARQAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNC TYEGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADCLDSA VALAAYKWLVCYLLRETYQKLNQEKRSGSSDFEARNKCQVSHGRPLALAFVELTVVQRFHEHVH QPSVPPSLRAVLGRLSALYALWSLSRHAALLYRGGYFSGEQAGEVLESAVLALCSQLKDDAVAL VDVIAPPDFVLDSPIGRADGELYKNLWGAVLQESKVLERASWWPEFSVNKPVIGSLKSKL hide sequence

RefSeq Acc Id:	NP_001095137 ⟸ NM_001101667
- Peptide Label:	isoform b
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGMLRFKKTIFSALENDPLFARS PGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLKVPALIQCLGMYDSSLAAKYLLHSLVF GSAVYSSGSERHLTYIQKIFRMEIFGCFALTELSHGSNTKAIRTTAHYDPATEEFIIHSPDFEA AKFWVGNMGKTATHAVVFAKLCVPGDQCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGL DNGFAMFHKVRVPRQSLLNRMGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLK LAVAIALRFSATRRQFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGL ASGDRSARQAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNC TYEGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADCLDSA VALAAYKWLVCYLLRETYQKLNQEKRSGSSDFEARNKCQVSHGRPLALAFVELTVVQRFHEHVH QPSVPPSLRAVLGRLSALYALWSLSRHAALLYRAERRCSCPGRRDRSS hide sequence

RefSeq Acc Id:	XP_011511868 ⟸ XM_011513566
- Peptide Label:	isoform X2
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGMLRFKKTIFSALENDPLFARS PGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLKVPALIQCLGMYDSSLAAKYLLHSLVF GSAVYSSGSERHLTYIQKIFRMEIFGCFALTELSHGSNTKAIRTTAHYDPATEEFIIHSPDFEA AKFWVGNMGKTATHAVVFAKLCVPGDQCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGL DNGFAMFHKVRVPRQSLLNRMGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLK LAVAIALRFSATRRQFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGL ASGDRSARQAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNC TYEGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADCLDSA VALAAYKWLVCYLLRETYQKLNQEKRSGSSDFEARNKCQLKDDAVALVDVIAPPDFVLDSPIGR ADGELYKNLWGAVLQESKVLERASWWPEFSVNKPVIGSLKSKL hide sequence

RefSeq Acc Id:	XP_011511867 ⟸ XM_011513565
- Peptide Label:	isoform X1
- UniProtKB:	Q96AJ8 (UniProtKB/Swiss-Prot), O15254 (UniProtKB/Swiss-Prot), B2R856 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGMLRFKKTIFSALENDPLFARS PGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLKVPALIQCLGMYDSSLAAKYLLHSLVF GSAVYSSGSERHLTYIQKIFRMEIFGCFALTELSHGSNTKAIRTTAHYDPATEEFIIHSPDFEA AKFWVGNMGKTATHAVVFAKLCVPGDQCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGL DNGFAMFHKVRVPRQSLLNRMGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLK LAVAIALRFSATRRQFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGL ASGDRSARQAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNC TYEGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADCLDSA VALAAYKWLVCYLLRETYQKLNQEKRSGSSDFEARNKCQVSHGRPLALAFVELTVVQRFHEHVH QPSVPPSLRAVLGRLSALYALWSLSRHAALLYRGGYFSGEQAGEVLESAVLALCSQLKDDAVAL VDVIAPPDFVLDSPIGRADGELYKNLWGAVLQESKVLERASWWPEFSVNKPVIGSLKSKL hide sequence

RefSeq Acc Id:

XP_024310005 ⟸ XM_024454237

- Peptide Label:

isoform X3

- Sequence:

show sequence

MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGMLRFKKTIFSALENDPLFARS
PGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLKVPALIQCLGMYDSSLAAKYLLHSLVF
GSAVYSSGSERHLTYIQKIFRMEIFGCFALTELSHGSNTKAIRTTAHYDPATEEFIIHSPDFEA
AKFWVGNMGKTATHAVVFAKLCVPGDQCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGL
DNGFAMFHKVRVPRQSLLNRMGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLK
LAVAIALRFSATRRQFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGL
ASGDRSARQAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNC
TYEGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADCLDSA
VLGLAASMMENLCLPSWDFTV

hide sequence

RefSeq Acc Id:	NP_001362713 ⟸ NM_001375784
- Peptide Label:	isoform c
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362714 ⟸ NM_001375785
- Peptide Label:	isoform d
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362718 ⟸ NM_001375789
- Peptide Label:	isoform f
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362717 ⟸ NM_001375788
- Peptide Label:	isoform b
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362715 ⟸ NM_001375786
- Peptide Label:	isoform d
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362716 ⟸ NM_001375787
- Peptide Label:	isoform e
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362712 ⟸ NM_001375783
- Peptide Label:	isoform a
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot), B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001362719 ⟸ NM_001375790
- Peptide Label:	isoform g
- UniProtKB:	B2R856 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000421625 ⟸ ENST00000503233

RefSeq Acc Id:

ENSP00000413994 ⟸ ENST00000413009

RefSeq Acc Id:

ENSP00000348775 ⟸ ENST00000356406

RefSeq Acc Id:

ENSP00000427321 ⟸ ENST00000514423

RefSeq Acc Id:	XP_047272187 ⟸ XM_047416231
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047272186 ⟸ XM_047416230
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047272185 ⟸ XM_047416229
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047272189 ⟸ XM_047416233
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_047272190 ⟸ XM_047416234
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054206925 ⟸ XM_054350950
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054206923 ⟸ XM_054350948
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206920 ⟸ XM_054350945
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206919 ⟸ XM_054350944
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206921 ⟸ XM_054350946
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206922 ⟸ XM_054350947
- Peptide Label:	isoform X1
- UniProtKB:	O15254 (UniProtKB/Swiss-Prot), Q96AJ8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206924 ⟸ XM_054350949
- Peptide Label:	isoform X2

Protein Domains

Acyl-CoA oxidase C-terminal Acyl-CoA oxidase/dehydrogenase middle

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15254-F1-model_v2	AlphaFold	O15254	1-700	view protein structure

Promoters

RGD ID:

6867012

Promoter ID:

EPDNEW_H6671

Type:

initiation region

Name:

ACOX3_1

Description:

acyl-CoA oxidase 3, pristanoyl

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6673

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,428,448 - 8,428,508	EPDNEW

RGD ID:

6867016

Promoter ID:

EPDNEW_H6673

Type:

initiation region

Name:

ACOX3_2

Description:

acyl-CoA oxidase 3, pristanoyl

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6671

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	8,440,723 - 8,440,783	EPDNEW

RGD ID:

6802020

Promoter ID:

HG_KWN:47834

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

UC010IDK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	8,480,791 - 8,481,291 (-)	MPROMDB

RGD ID:

6802019

Promoter ID:

HG_KWN:47836

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, Lymphoblastoid

Transcripts:

NM_001101667, NM_003501

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	8,493,281 - 8,493,942 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:121	AgrOrtholog
COSMIC	ACOX3	COSMIC
Ensembl Genes	ENSG00000087008	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000356406	ENTREZGENE
	ENST00000356406.10	UniProtKB/Swiss-Prot
	ENST00000413009	ENTREZGENE
	ENST00000413009.6	UniProtKB/Swiss-Prot
	ENST00000503233	ENTREZGENE
	ENST00000503233.5	UniProtKB/Swiss-Prot
	ENST00000514423.1	UniProtKB/TrEMBL
Gene3D-CATH	2.40.110.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Butyryl-CoA Dehydrogenase, subunit A, domain 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000087008	GTEx
HGNC ID	HGNC:121	ENTREZGENE
Human Proteome Map	ACOX3	Human Proteome Map
InterPro	ACO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Acyl-CoA_Oxase/DH_cen-dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Acyl-CoA_Oxase/DH_mid-dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Acyl-CoA_oxidase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Acyl-CoA_oxidase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AcylCo_DH-like_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	AcylCoA_DH/oxidase_NM_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8310	UniProtKB/Swiss-Prot
NCBI Gene	8310	ENTREZGENE
OMIM	603402	OMIM
PANTHER	PEROXISOMAL ACYL-COENZYME A OXIDASE 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10909	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ACOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Acyl-CoA_dh_M	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24445	PharmGKB
PIRSF	Acyl-CoA_oxidase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Acyl-CoA dehydrogenase C-terminal domain-like	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
	SSF56645	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ACOX3_HUMAN	UniProtKB/Swiss-Prot
	B2R856	ENTREZGENE, UniProtKB/TrEMBL
	D6RJ89_HUMAN	UniProtKB/TrEMBL
	O15254	ENTREZGENE
	Q96AJ8	ENTREZGENE
UniProt Secondary	Q96AJ8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	ACOX3	acyl-CoA oxidase 3, pristanoyl	ACOX3	acyl-Coenzyme A oxidase 3, pristanoyl	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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