ANKRD54 (ankyrin repeat domain 54)

Gene: ANKRD54 (ankyrin repeat domain 54) Homo sapiens

Analyze

Symbol:

ANKRD54

Name:

ankyrin repeat domain 54

RGD ID:

1605877

HGNC Page

HGNC:25185

Description:

Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ankyrin repeat domain-containing protein 54; LIAR; lyn-interacting ankyrin repeat protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ankrd54 (ankyrin repeat domain 54)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ankrd54 (ankyrin repeat domain 54)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Ankrd54 (ankyrin repeat domain 54)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ANKRD54 (ankyrin repeat domain 54)	NCBI	Ortholog
Canis lupus familiaris (dog):	ANKRD54 (ankyrin repeat domain 54)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ankrd54 (ankyrin repeat domain 54)	NCBI	Ortholog
Sus scrofa (pig):	ANKRD54 (ankyrin repeat domain 54)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ANKRD54 (ankyrin repeat domain 54)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ankrd54 (ankyrin repeat domain 54)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ankrd54 (ankyrin repeat domain 54)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ankrd54 (ankyrin repeat domain 54)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ankrd54 (ankyrin repeat domain 54)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG10809	Alliance	DIOPT (InParanoid\|OrthoInspector\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	ankrd54	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ankrd54.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ankrd54.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

ANKRD54P1

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	22	37,830,855 - 37,849,341 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	37,830,855 - 37,849,327 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	38,226,862 - 38,245,348 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	36,556,808 - 36,570,249 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	22,028,653 - 22,042,127 (-)	NCBI		Celera
Cytogenetic Map	22	q13.1	NCBI
HuRef	22	21,193,522 - 21,206,728 (-)	NCBI		HuRef
CHM1_1	22	38,185,605 - 38,199,106 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	38,292,487 - 38,310,946 (-)	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

adenylosuccinase lyase deficiency (IAGP)

Emery-Dreifuss muscular dystrophy (IAGP)

myoclonic dystonia 26 (IAGP)

neurodegeneration with brain iron accumulation 2A (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

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

2-methylcholine (EXP)

4-hydroxyphenyl retinamide (ISO)

aflatoxin B1 (ISO)

aristolochic acid A (EXP)

bisphenol A (ISO)

caffeine (EXP)

chlorpyrifos (ISO)

cocaine (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

FR900359 (EXP)

ivermectin (EXP)

methyl methanesulfonate (EXP)

ozone (ISO)

paracetamol (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

tetrachloroethene (ISO)

tris(2-butoxyethyl) phosphate (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

nucleocytoplasmic transport (IEA,ISO)

positive regulation of erythrocyte differentiation (IEA,ISO,ISS)

regulation of intracellular signal transduction (IBA,IEA,ISO,ISS)

Cellular Component

cytoplasm (IBA,IEA,ISS)

midbody (IEA,ISS)

nucleus (IBA,IEA,ISS)

Molecular Function

protein binding (IPI)

protein kinase regulator activity (IBA,IEA)

protein-containing complex binding (IEA)

References

References - curated

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

Additional References at PubMed

PMID:10591208	PMID:12477932	PMID:14702039	PMID:15461802	PMID:15489334	PMID:21873635	PMID:22527282	PMID:23503679	PMID:25416956	PMID:25852190	PMID:26673895	PMID:26972000
PMID:28369144	PMID:28514442	PMID:31515488	PMID:31753913	PMID:31796584	PMID:32203420	PMID:32296183	PMID:32707033	PMID:33187986	PMID:33961781	PMID:35271311	PMID:35563538
PMID:35914814	PMID:36114006	PMID:36537216	PMID:36724073	PMID:36736316

Genomics

Comparative Map Data

ANKRD54
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	37,830,855 - 37,849,341 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	37,830,855 - 37,849,327 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	38,226,862 - 38,245,348 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	36,556,808 - 36,570,249 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	22,028,653 - 22,042,127 (-)	NCBI		Celera
Cytogenetic Map	22	q13.1	NCBI
HuRef	22	21,193,522 - 21,206,728 (-)	NCBI		HuRef
CHM1_1	22	38,185,605 - 38,199,106 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	38,292,487 - 38,310,946 (-)	NCBI		T2T-CHM13v2.0

Ankrd54
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	78,937,294 - 78,947,129 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	78,937,294 - 78,947,093 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	79,053,094 - 79,062,927 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	79,053,094 - 79,062,893 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	78,883,524 - 78,893,289 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	78,880,349 - 78,890,114 (-)	NCBI		MGSCv36	mm8
Celera	15	81,154,720 - 81,164,485 (-)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	37.7	NCBI

Ankrd54
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	112,495,396 - 112,508,186 (-)	NCBI		GRCr8
mRatBN7.2	7	110,614,942 - 110,627,739 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	110,614,951 - 110,627,675 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	112,366,271 - 112,377,188 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	114,589,803 - 114,600,720 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	114,558,403 - 114,569,308 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	120,282,423 - 120,295,647 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	120,282,822 - 120,295,618 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	120,273,841 - 120,286,703 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	117,026,119 - 117,037,050 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	117,060,348 - 117,071,280 (-)	NCBI
Celera	7	106,951,054 - 106,961,977 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Ankrd54
(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_004955413	24,203,653 - 24,216,851 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	24,203,653 - 24,216,702 (-)	NCBI	ChiLan1.0	ChiLan1.0

ANKRD54
(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	23	47,691,832 - 47,709,459 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	50,380,210 - 50,397,828 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	18,748,498 - 18,766,233 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	36,579,856 - 36,596,401 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

ANKRD54
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	26,794,405 - 26,806,116 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	26,794,426 - 26,806,131 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	26,749,163 - 26,760,829 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	27,585,968 - 27,597,450 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	27,585,943 - 27,597,448 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	27,309,010 - 27,320,678 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	27,617,244 - 27,629,130 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	27,794,836 - 27,806,308 (+)	NCBI		UU_Cfam_GSD_1.0

Ankrd54
(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_024404945	10,269,980 - 10,280,783 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	3,280,367 - 3,291,336 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	3,280,318 - 3,291,197 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ANKRD54
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	10,003,891 - 10,017,734 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	10,003,858 - 10,017,740 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	7,499,911 - 7,513,774 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ANKRD54
(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	19	20,536,145 - 20,551,114 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	20,535,495 - 20,550,853 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	105,236,012 - 105,256,478 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ankrd54
(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_004624752	10,071,332 - 10,083,025 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	10,071,256 - 10,083,006 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ANKRD54
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	copy number loss	See cases [RCV000051364]	Chr22:35333993..38900177 [GRCh38] Chr22:35729986..39296182 [GRCh37] Chr22:34059986..37626128 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]\|See cases [RCV000051366]	Chr22:36859030..39236985 [GRCh38] Chr22:37255072..39632990 [GRCh37] Chr22:35585018..37962936 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	copy number loss	See cases [RCV000051367]	Chr22:37721777..38886664 [GRCh38] Chr22:38117784..39282669 [GRCh37] Chr22:36447730..37612615 [NCBI36] Chr22:22q13.1	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3	copy number gain	See cases [RCV000051683]	Chr22:36068124..38002382 [GRCh38] Chr22:36464172..38398389 [GRCh37] Chr22:34794118..36728335 [NCBI36] Chr22:22q12.3-13.1	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	copy number gain	See cases [RCV000051685]	Chr22:37721797..40860953 [GRCh38] Chr22:38117804..41256957 [GRCh37] Chr22:36447750..39586903 [NCBI36] Chr22:22q13.1-13.2	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	copy number loss	See cases [RCV000141783]	Chr22:37447222..39103680 [GRCh38] Chr22:37843259..39499685 [GRCh37] Chr22:36173205..37829631 [NCBI36] Chr22:22q13.1	pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3	copy number gain	See cases [RCV000446037]	Chr22:37090025..39601950 [GRCh37] Chr22:22q12.3-13.1	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	copy number loss	See cases [RCV000511673]	Chr22:37866631..39054815 [GRCh37] Chr22:22q13.1	pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	copy number loss	See cases [RCV000512008]	Chr22:36877226..38548989 [GRCh37] Chr22:22q12.3-13.1	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_138797.4(ANKRD54):c.118G>A (p.Ala40Thr)	single nucleotide variant	not specified [RCV004301696]	Chr22:37844121 [GRCh38] Chr22:38240128 [GRCh37] Chr22:22q13.1	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	copy number gain	See cases [RCV000512385]	Chr22:35674826..39466442 [GRCh37] Chr22:22q12.3-13.1	likely pathogenic
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	copy number loss	Waardenburg syndrome type 4C [RCV000721944]	Chr22:37805546..37983784 [GRCh38] Chr22:38201553..38379791 [GRCh37] Chr22:22q13.1	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
NM_138797.4(ANKRD54):c.487C>T (p.Leu163=)	single nucleotide variant	not provided [RCV000959685]	Chr22:37833744 [GRCh38] Chr22:38229751 [GRCh37] Chr22:22q13.1	benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	copy number loss	not provided [RCV001007501]	Chr22:38002218..38973070 [GRCh37] Chr22:22q13.1	pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del	deletion	Emery-Dreifuss muscular dystrophy [RCV003122557]\|Infantile neuroaxonal dystrophy [RCV003122556]\|Myoclonic dystonia 26 [RCV003107333]	Chr22:37154355..39148633 [GRCh37] Chr22:22q12.3-13.1	pathogenic\|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1(chr22:38155164-38541997)	copy number loss	Waardenburg syndrome type 2E [RCV001290182]	Chr22:38155164..38541997 [GRCh37] Chr22:22q13.1	pathogenic
GRCh37/hg19 22q13.1(chr22:38116341-38369048)	copy number loss	not specified [RCV002052755]	Chr22:38116341..38369048 [GRCh37] Chr22:22q13.1	likely pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
NC_000022.10:g.(?_38097373)_(39306081_?)del	deletion	not provided [RCV003122369]	Chr22:38097373..39306081 [GRCh37] Chr22:22q13.1	pathogenic
NM_138797.4(ANKRD54):c.473T>C (p.Ile158Thr)	single nucleotide variant	not specified [RCV004108946]	Chr22:37838502 [GRCh38] Chr22:38234509 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.323T>G (p.Val108Gly)	single nucleotide variant	not specified [RCV004093798]	Chr22:37843916 [GRCh38] Chr22:38239923 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.704G>A (p.Arg235His)	single nucleotide variant	not specified [RCV004204080]	Chr22:37832974 [GRCh38] Chr22:38228981 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.259C>A (p.Pro87Thr)	single nucleotide variant	not specified [RCV004102449]	Chr22:37843980 [GRCh38] Chr22:38239987 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.751C>T (p.Arg251Cys)	single nucleotide variant	not specified [RCV004243891]	Chr22:37832714 [GRCh38] Chr22:38228721 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.185A>C (p.Gln62Pro)	single nucleotide variant	not specified [RCV004241532]	Chr22:37844054 [GRCh38] Chr22:38240061 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.350C>T (p.Ser117Leu)	single nucleotide variant	not specified [RCV004091532]	Chr22:37840213 [GRCh38] Chr22:38236220 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.302T>G (p.Leu101Arg)	single nucleotide variant	not specified [RCV004091625]	Chr22:37843937 [GRCh38] Chr22:38239944 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.515G>A (p.Arg172Gln)	single nucleotide variant	not specified [RCV004116993]	Chr22:37833716 [GRCh38] Chr22:38229723 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.640C>T (p.His214Tyr)	single nucleotide variant	not specified [RCV004187456]	Chr22:37833038 [GRCh38] Chr22:38229045 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.778C>T (p.Arg260Cys)	single nucleotide variant	not specified [RCV004081573]	Chr22:37832687 [GRCh38] Chr22:38228694 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.400G>A (p.Ala134Thr)	single nucleotide variant	not specified [RCV004271572]	Chr22:37838575 [GRCh38] Chr22:38234582 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.698C>T (p.Ala233Val)	single nucleotide variant	not specified [RCV004281120]	Chr22:37832980 [GRCh38] Chr22:38228987 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.127G>A (p.Gly43Arg)	single nucleotide variant	not specified [RCV004355996]	Chr22:37844112 [GRCh38] Chr22:38240119 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.262G>A (p.Ala88Thr)	single nucleotide variant	not specified [RCV004422268]	Chr22:37843977 [GRCh38] Chr22:38239984 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.571G>A (p.Val191Ile)	single nucleotide variant	not specified [RCV004422269]	Chr22:37833183 [GRCh38] Chr22:38229190 [GRCh37] Chr22:22q13.1	uncertain significance
NM_138797.4(ANKRD54):c.779G>A (p.Arg260His)	single nucleotide variant	not specified [RCV004422270]	Chr22:37832686 [GRCh38] Chr22:38228693 [GRCh37] Chr22:22q13.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3566
Count of miRNA genes:	928
Interacting mature miRNAs:	1104
Transcripts:	ENST00000215941, ENST00000406423, ENST00000407117, ENST00000411961, ENST00000413497, ENST00000424350, ENST00000434930, ENST00000458278, ENST00000464849, ENST00000498417, ENST00000609454, ENST00000609706
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

G28411

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	38,226,923 - 38,227,022	UniSTS	GRCh37
Build 36	22	36,556,869 - 36,556,968	RGD	NCBI36
Celera	22	22,028,714 - 22,028,813	RGD
Cytogenetic Map	22	q13.1	UniSTS
HuRef	22	21,193,583 - 21,193,682	UniSTS

A006R14

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	38,226,883 - 38,227,111	UniSTS	GRCh37
Build 36	22	36,556,829 - 36,557,057	RGD	NCBI36
Celera	22	22,028,674 - 22,028,902	RGD
Cytogenetic Map	22	q13.1	UniSTS
HuRef	22	21,193,543 - 21,193,771	UniSTS
GeneMap99-GB4 RH Map	22	126.37	UniSTS

HSC1OE012

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	38,227,050 - 38,227,253	UniSTS	GRCh37
Build 36	22	36,556,996 - 36,557,199	RGD	NCBI36
Celera	22	22,028,841 - 22,029,044	RGD
Cytogenetic Map	22	q13.1	UniSTS
HuRef	22	21,193,710 - 21,193,913	UniSTS
GeneMap99-GB4 RH Map	22	114.81	UniSTS
Whitehead-RH Map	22	135.5	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

High

Medium

1954

1240

1349

183

974

109

3172

980

3103

312

1407

1430

729

1957

Low

478

1739

376

439

969

355

1183

1213

626

106

181

475

831

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001349853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001363839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_138797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_036556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_146280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006724136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006724137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_937811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK127583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC023989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX368923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX401122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD300696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CX870766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB449700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY007929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	R59897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z97630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000215941 ⟹ ENSP00000215941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,830,855 - 37,844,334 (-)	Ensembl

RefSeq Acc Id:

ENST00000406423 ⟹ ENSP00000384392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,831,825 - 37,843,882 (-)	Ensembl

RefSeq Acc Id:

ENST00000407117 ⟹ ENSP00000385180

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,831,979 - 37,844,170 (-)	Ensembl

RefSeq Acc Id:

ENST00000411961 ⟹ ENSP00000405782

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,831,935 - 37,844,321 (-)	Ensembl

RefSeq Acc Id:

ENST00000413497 ⟹ ENSP00000391744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,832,993 - 37,844,276 (-)	Ensembl

RefSeq Acc Id:

ENST00000424350 ⟹ ENSP00000393035

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,833,009 - 37,843,882 (-)	Ensembl

RefSeq Acc Id:

ENST00000434930 ⟹ ENSP00000387507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,833,041 - 37,844,323 (-)	Ensembl

RefSeq Acc Id:

ENST00000458278 ⟹ ENSP00000412534

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,831,970 - 37,844,006 (-)	Ensembl

RefSeq Acc Id:

ENST00000464849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,832,676 - 37,840,234 (-)	Ensembl

RefSeq Acc Id:

ENST00000498417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,830,856 - 37,834,728 (-)	Ensembl

RefSeq Acc Id:

ENST00000609454 ⟹ ENSP00000477088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,831,860 - 37,849,327 (-)	Ensembl

RefSeq Acc Id:

ENST00000609706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	37,848,179 - 37,849,318 (-)	Ensembl

RefSeq Acc Id:

NM_001349853 ⟹ NP_001336782

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,849,341 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,310,946 (-)	NCBI

Sequence:

show sequence

CTTTCCGAGGCCTCTGGCCATCTGAGACAGCCATATCCAGAAGGAAGAGGAGCCGCGTTCCGTG
GCTCACACCTGTAACCCCACCAGTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGCTGAGGCC
GGGGGTTTGAGACCAGCCTGACCAATATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAG
CCGGGAGTGGTGGCGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCGCTT
GAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACA
AGAGGGAAAACTCCGTCTAAAAAGAATAAGAGGGTTACAAGTAGCCTGAATTTTCCTCTCTTCA
AATAGGGACTTCTCAAAGAAGGTGAATCTATAATAGTGGTGTAGATTCAGATATAAGGACACGT
ATTTGGCGTAAAGGAGAGGCAAAGTTAGAGGAACCAGAAAGAATGCTACACAAAAGATGGCCGG
CTTCTCGCGTGAAGGAAGATTCGGATACGGGGGCCTGATGGATTTAGTTGTAGGCGGTTTGCCT
GCAGCGAGTAAATTATTCAAACGTTCGGACTTCACAAGACTAAACTTACTGGGGATAAAAATTG
AGATTTGGCCGGGCGCGATGGCTCACGCCTGTAATCCCTACACTTTGGGAGGCCGAGGCGGGTG
GATGATCTGAGATCAGGAGTTCGAGACCAGCCTGGCCGAAATGGCGAAACCCCGTCTCTATTAA
AAATACAAAAATTAGCCGGGAGTGGTAGCGTCCGCCTGTAATCCCAGCTACTCAGGAGGCTGAA
GCAGGAGAATCGGTGGAACCTGAGAGGCAGAGGCTGTAGTGAGCCGAGATCGCGCCACTGCACT
CCAGCCTGGGCGACAGAGCAAGACTCCGTCTAAAAAAAAAAAGAAAAAAAAAAATTGAGATTTG
GTCCCATGCAGTAAGAGGGAATGGAGAACAGGAGCCACCCAACTTTGGACATTAAAGTTGGAGC
AGGCAAAGATGAGGCCAGCTGTGTCGCGAAGCCTGGGACATGGGCAGCTCTTGAGTACACCGGG
TTCGAGGCCAGGGGAAACCCTCAAGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCAATGATG
TGGAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAAGGGCCG
CACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGTGCAGCTGCTCCTGGACCAT
GGTGCTGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACCA
ACCACGTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCCTGGACCGAGC
TGGTCGCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCCAG
TGCCTAGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGAGC
GCCTAGGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACCAG
TACCAAAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCAG
ATGCAGAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCCTG
CCCCACTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTCTG
GTGAGGACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTCAG
AGCCACTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTTCC
AGTTCTCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATCTC
AGCAGACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGTT
CCGTCCTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCAG
GGGTACTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTCAC
CAGACTTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCCA
GACCTTAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCCAG
TCATTGAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAGG
CCAGTAGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGTAT
GGCCAAAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAGCT
TGTTCAGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGAGG
AGGTTGGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAGT
CCAGGCCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGCT
CCCACCTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGGGA
ATAAATTTGTGTTGTTTTAAGTCA

hide sequence

RefSeq Acc Id:

NM_001363839 ⟹ NP_001350768

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,843,848 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,305,462 (-)	NCBI

Sequence:

show sequence

AGAGGACCAGTGGCCGCGCTTTGGTCGCCCCCGACCCTCAGCCGGGGTCCCCCGACGTCTGCGC
TGAGGGCCACACTGACCCTTGAGTCTCCTTTCAGTAACGATGGTGATGATGGTTTTTTTAGAAA
GTCTTCCTGCTCTGAGCCAGTCACCCCAGTCTTCTCTCACTGGGTAATTTCTGAATGGAAACTT
CCCATGACTCGGAACGCTTATTGGTGAATAATAAAATGAGCTCTGAAGAGACTGAGGGACTCGG
CCAATGCCAATGATGTGGAAACAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATG
ACAAGGGCCGCACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGTGCAGCTGCT
CCTGGACCATGGTGCTGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCG
GCCTGCACCAACCACGTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCC
TGGACCGAGCTGGTCGCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGG
CCATGCCCAGTGCCTAGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAG
TATCTGGAGCGCCTAGGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGC
AGATGACCAGTACCAAAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCT
CAGTCTGCAGATGCAGAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTG
CCCCACCCTGCCCCACTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTG
CACTTGTCTGGTGAGGACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCC
ACGGCCTCAGAGCCACTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCC
AGCTTCTTCCAGTTCTCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCT
GCGCTATCTCAGCAGACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCT
TCTCTGTGTTCCGTCCTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACC
CTGTGGCCAGGGGTACTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACA
GACACGTCACCAGACTTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTG
GTGAGTCCCAGACCTTAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTT
TTCCTCCCAGTCATTGAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAG
TTGTGGTAGGCCAGTAGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAAT
TACCTTGTATGGCCAAAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGAT
TATCCCAGCTTGTTCAGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTG
ACGGGAGAGGAGGTTGGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAA
GCCACAGAGTCCAGGCCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCC
CAGCCCTGCTCCCACCTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAA
CTCTAAGGGAATAAATTTGTGTTGTTTTAAGTCA

hide sequence

RefSeq Acc Id:

NM_138797 ⟹ NP_620152

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,844,334 (-)	NCBI
GRCh37	22	38,226,862 - 38,240,353 (-)	RGD
Build 36	22	36,556,808 - 36,570,249 (-)	NCBI Archive
Celera	22	22,028,653 - 22,042,127 (-)	RGD
HuRef	22	21,193,522 - 21,206,728 (-)	RGD
CHM1_1	22	38,185,605 - 38,199,106 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,305,948 (-)	NCBI

Sequence:

show sequence

AGCTCGCTGACAGCACGACTCAGGGCGGAGGGAAGTAGGTCCGTTGGTCGGTCGGGAACGAGGC
TCAGGCGGCCAGGCCCGCGCGGAGCCGTTGCCATGGCAGCCGCCGCCGGGGACGCGGACGACGA
GCCGCGCTCAGGCCACTCGAGCTCGGAGGGCGAGTGCGCGGTGGCGCCGGAGCCGCTGACTGAC
GCTGAGGGCCTCTTCTCCTTCGCTGACTTCGGGTCTGCGCTGGGCGGCGGCGGCGCGGGCCTCT
CGGGCCGGGCGTCCGGCGGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGA
TGCGGAGCCGCGCGACGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGG
CCCCACCGGCGGCTCGGGCCCACGGGCAAGGAGGTGCACGCTCTGAAGAGACTGAGGGACTCGG
CCAATGCCAATGATGTGGAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGC
TGATGACAAGGGCCGCACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGTGCAG
CTGCTCCTGGACCATGGTGCTGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACC
TGGCGGCCTGCACCAACCACGTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGA
TGCCCTGGACCGAGCTGGTCGCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAG
GAGGGCCATGCCCAGTGCCTAGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGA
GGGAGTATCTGGAGCGCCTAGGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCG
CCTGCAGATGACCAGTACCAAAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACC
TCCCTCAGTCTGCAGATGCAGAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGC
CACTGCCCCACCCTGCCCCACTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGG
AGCTGCACTTGTCTGGTGAGGACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTC
TCTCCACGGCCTCAGAGCCACTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAG
CTCCCAGCTTCTTCCAGTTCTCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCA
GACCTGCGCTATCTCAGCAGACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAG
ACCCTTCTCTGTGTTCCGTCCTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGG
GCACCCTGTGGCCAGGGGTACTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTT
AGACAGACACGTCACCAGACTTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAG
GGTTGGTGAGTCCCAGACCTTAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAA
CCCTTTTCCTCCCAGTCATTGAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTG
CCCAGTTGTGGTAGGCCAGTAGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTC
AAAATTACCTTGTATGGCCAAAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGG
AAGATTATCCCAGCTTGTTCAGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGC
AGGTGACGGGAGAGGAGGTTGGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAG
CTCAAGCCACAGAGTCCAGGCCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAA
GGCCCCAGCCCTGCTCCCACCTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTT
TAGAACTCTAAGGGAATAAATTTGTGTTGTTTTAAGTCA

hide sequence

RefSeq Acc Id:

NR_036556

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,844,447 (-)	NCBI
GRCh37	22	38,226,862 - 38,240,353 (-)	RGD
Celera	22	22,028,653 - 22,042,127 (-)	RGD
HuRef	22	21,193,522 - 21,206,728 (-)	RGD
CHM1_1	22	38,185,605 - 38,199,106 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,306,061 (-)	NCBI

Sequence:

show sequence

GATTGGTTTTGGGACCGGTTTAAGCTGGAAGGGTAGTCATTGGTTCGCCGCTCTGTCTCGGCCT
GAGCCCGCCCCCGCTCGGTTGCCGTGGTTGCGGGCCCTGCCCGCCCGCCAGCTCGCTGACAGCA
CGACTCAGGGCGGAGGGAAGTAGGTCCGTTGGTCGGTCGGGAACGAGGCTCAGGCGGCCAGGCC
CGCGCGGAGCCGTTGCCATGGCAGCCGCCGCCGGGGACGCGGACGACGAGCCGCGCTCAGGCCA
CTCGAGCTCGGAGGGCGAGTGCGCGGTGGCGCCGGAGCCGCTGACTGACGCTGAGGGCCTCTTC
TCCTTCGCTGACTTCGGGTCTGCGCTGGGCGGCGGCGGCGCGGGCCTCTCGGGCCGGGCGTCCG
GCGGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGATGCGGAGCCGCGCGA
CGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTC
GGGCCCACGGGCAAGGAGGTGCACGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCAATGATG
TGGAAACAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAAGGGCCGCACAG
CTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGTGCAGCTGCTCCTGGACCATGGTGC
TGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACCAACCAC
GTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCCTGGACCGAGCTGGTC
GCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCCAGTGCCT
AGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGAGCGCCTA
GGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACCAGTACCA
AAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCAGATGCA
GAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCCTGCCCCA
CTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTCTGGTGAG
GACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTCAGAGCCA
CTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTTCCAGTTC
TCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATCTCAGCAG
ACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGTTCCGTC
CTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCAGGGGTA
CTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTCACCAGAC
TTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCCAGACCT
TAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCCAGTCATT
GAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAGGCCAGT
AGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGTATGGCCA
AAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAGCTTGTTC
AGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGAGGAGGTT
GGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAGTCCAGG
CCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGCTCCCAC
CTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGGGAATAAA
TTTGTGTTGTTTTAAGTCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_146279

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,844,447 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,306,061 (-)	NCBI

Sequence:

show sequence

GATTGGTTTTGGGACCGGTTTAAGCTGGAAGGGTAGTCATTGGTTCGCCGCTCTGTCTCGGCCT
GAGCCCGCCCCCGCTCGGTTGCCGTGGTTGCGGGCCCTGCCCGCCCGCCAGCTCGCTGACAGCA
CGACTCAGGGCGGAGGGAAGTAGGTCCGTTGGTCGGTCGGGAACGAGGCTCAGGCGGCCAGGCC
CGCGCGGAGCCGTTGCCATGGCAGCCGCCGCCGGGGACGCGGACGACGAGCCGCGCTCAGGCCA
CTCGAGCTCGGAGGGCGAGTGCGCGGTGGCGCCGGAGCCGCTGACTGACGCTGAGGGCCTCTTC
TCCTTCGCTGACTTCGGGTCTGCGCTGGGCGGCGGCGGCGCGGGCCTCTCGGGCCGGGCGTCCG
GCGGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGATGCGGAGCCGCGCGA
CGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTC
GGGCCCACGGGCAAGGAGGTGCACGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCAATGATG
TGGAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAAGGGCCG
CACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGCTGCTCCTGGACCATGGTGC
TGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACCAACCAC
GTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCCTGGACCGAGCTGGTC
GCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCCAGTGCCT
AGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGAGCGCCTA
GGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACCAGTACCA
AAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCAGATGCA
GAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCCTGCCCCA
CTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTCTGGTGAG
GACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTCAGAGCCA
CTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTTCCAGTTC
TCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATCTCAGCAG
ACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGTTCCGTC
CTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCAGGGGTA
CTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTCACCAGAC
TTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCCAGACCT
TAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCCAGTCATT
GAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAGGCCAGT
AGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGTATGGCCA
AAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAGCTTGTTC
AGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGAGGAGGTT
GGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAGTCCAGG
CCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGCTCCCAC
CTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGGGAATAAA
TTTGTGTTGTTTTAAGTCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_146280

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,844,447 (-)	NCBI
T2T-CHM13v2.0	22	38,292,487 - 38,306,061 (-)	NCBI

Sequence:

show sequence

GATTGGTTTTGGGACCGGTTTAAGCTGGAAGGGTAGTCATTGGTTCGCCGCTCTGTCTCGGCCT
GAGCCCGCCCCCGCTCGGTTGCCGTGGTTGCGGGCCCTGCCCGCCCGCCAGCTCGCTGACAGCA
CGACTCAGGGCGGAGGGAAGTAGGTCCGTTGGTCGGTCGGGAACGAGGCTCAGGCGGCCAGGCC
CGCGCGGAGCCGTTGCCATGGCAGCCGCCGCCGGGGACGCGGACGACGAGCCGCGCTCAGGCCA
CTCGAGCTCGGAGGGCGAGTGCGCGGTGGCGCCGGAGCCGCTGACTGACGCTGAGGGCCTCTTC
TCCTTCGCTGACTTCGGGTCTGCGCTGGGCGGCGGCGGCGCGGGCCTCTCGGGCCGGGCGTCCG
GCGGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGATGCGGAGCCGCGCGA
CGAGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTC
GGGCCCACGGGCAAGGAGGTGCACGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCAATGATG
TGGAAACAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAAGGGCCGCACAG
CTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGCTGCTCCTGGACCATGGTGCTGATC
CTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACCAACCACGTTCC
TGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCCTGGACCGAGCTGGTCGCACA
CCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCCAGTGCCTAGAGG
CTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGAGCGCCTAGGGCA
ACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACCAGTACCAAAGAG
CAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCAGATGCAGAGCA
TGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCCTGCCCCACTGCT
GTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTCTGGTGAGGACCT
TGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTCAGAGCCACTCCC
AGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTTCCAGTTCTCGCA
GCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATCTCAGCAGACCTC
ACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGTTCCGTCCTGGC
CATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCAGGGGTACTGCG
TGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTCACCAGACTTTCA
AGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCCAGACCTTAAAA
ATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCCAGTCATTGAAAC
ACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAGGCCAGTAGTGG
CCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGTATGGCCAAAGGG
GCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAGCTTGTTCAGGAG
GGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGAGGAGGTTGGAGG
TGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAGTCCAGGCCACC
TCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGCTCCCACCTGGA
CTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGGGAATAAATTTGT
GTTGTTTTAAGTCAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_006724136 ⟹ XP_006724199

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,843,848 (-)	NCBI

Sequence:

show sequence

GGGCCTCAGAGGACCAGTGGCCGCGCTTTGGTCGCCCCCGACCCTCAGCCGGGGTCCCCCGACG
TCTGCGCTGAGGGCCACACTGACCCTTGAGTCTCCTTTCAGTAACGATGGTGATGATGGTTTTT
TTAGAAAGTCTTCCTGCTCTGAGCCAGTCACCCCAGTCTTCTCTCACTGGGTAATTTCTGAATG
GAAACTTCCCATGACTCGGAACGCTTATTGGTGAATAATAAAATGAGCTCTGAAGAGACTGAGG
GACTCGGCCAATGCCAATGATGTGGAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCT
GTGCAGCTGATGACAAGGGCCGCACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGAT
TGTGCAGCTGCTCCTGGACCATGGTGCTGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCA
CTGCACCTGGCGGCCTGCACCAACCACGTTCCTGTCATCACCACACTGCTACGAGGAGGTATGT
GGTTTCTTCCCCTCTCTGTCCTCTTTCTCCCCCTCACCCCCAGAATGCTCACCTCAGCTGGTAC
CTGCAGGGGCCCGTGTAGATGCCCTGGACCGAGCTGGTCGCACACCCCTGCACCTGGCCAAGTC
AAAGCTGAATATCCTGCAGGAGGGCCATGCCCAGTGCCTAGAGGCTGTGCGTCTGGAGGTGAAG
CAGATCATCCATATGCTGAGGGAGTATCTGGAGCGCCTAGGGCAACATGAGCAGCGAGAACGCC
TGGATGACCTCTGCACCCGCCTGCAGATGACCAGTACCAAAGAGCAGGTGGATGAAGTGACTGA
CCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCAGATGCAGAGCATGGAGAAGAGGTAGCAAGAG
AGGCTCCCTGCCTTCCTGCCACTGCCCCACCCTGCCCCACTGCTGTCTCAGTACCAAGAAAAAG
CCCAACATCTGGGACTTGGAGCTGCACTTGTCTGGTGAGGACCTTGCCCTCACCCGCAGATGCC
GTGGGGCAGAGATGCTCTCTCTCCACGGCCTCAGAGCCACTCCCAGCCACAGTTTCCAGCATCT
CTGTGGACAGGGACCACAGCTCCCAGCTTCTTCCAGTTCTCGCAGCACCAGACCAGCCTCTGCA
GCTGCACTTCAGCTCCGCAGACCTGCGCTATCTCAGCAGACCTCACTTGCCCCATGGCCTTCAT
GGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGTTCCGTCCTGGCCATGGGCTTGTTGCAGTCAG
CAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCAGGGGTACTGCGTGAGGCCCTCAGTTGGTCCT
GTGCCTCTCACCAGCACTTAGACAGACACGTCACCAGACTTTCAAGGAGATACTGCAGTGAGTT
TCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCCAGACCTTAAAAATACAAGGTTAAGAGGGACC
CCAAAGCAAAAAATTCCAACCCTTTTCCTCCCAGTCATTGAAACACCAAAACTATTATACCGGA
GGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAGGCCAGTAGTGGCCTCCCAAGATGCCCATGTC
CTAATCCCAGGAACCTGTCAAAATTACCTTGTATGGCCAAAGGGGCTTTGCAGATGTAATGAAG
TTAAGGATCTTTCGCCAGGAAGATTATCCCAGCTTGTTCAGGAGGGCTTGATGTCCTCACCCGG
GTCTGTATAACAGAAGAGCAGGTGACGGGAGAGGAGGTTGGAGGTGTAGCGATGGAGCAGGAAA
CTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAGTCCAGGCCACCTCAGAGCCAGGAAATGCATC
CTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGCTCCCACCTGGACTGGCTCAGTGAGGCTAATT
TTATAATTCTGGCTGATTTTAGAACTCTAAGGGAATAAATTTGTGTTGTTTTAAGTCAC

hide sequence

RefSeq Acc Id:

XM_011529877 ⟹ XP_011528179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,844,447 (-)	NCBI

Sequence:

show sequence

CGCGAGCCTGGCGGCAGAGCGAGACTCCGTCGCAAAAAAAAAGCGTCTGAAATGCTGTTTTACT
GGCTCCGGTAGCGACGTACAGCGAAAGCCAAGGTCACTTCAAGTTTGTAATTGGTTACAATGTC
TGTCAGTCACGTTGCCGGAAACCCTGTCCAATTATCCTGCTTGTACTGTGCCCTCCCTTTCCGA
TTGGTTTTGGGACCGGTTTAAGCTGGAAGGGTAGTCATTGGTTCGCCGCTCTGTCTCGGCCTGA
GCCCGCCCCCGCTCGGTTGCCGTGGTTGCGGGCCCTGCCCGCCCGCCAGCTCGCTGACAGCACG
ACTCAGGGCGGAGGGAAGTAGGTCCGTTGGTCGGTCGGGAACGAGGCTCAGGCGGCCAGGCCCG
CGCGGAGCCGTTGCCATGGCAGCCGCCGCCGGGGACGCGGACGACGAGCCGCGCTCAGGCCACT
CGAGCTCGGAGGGCGAGTGCGCGGTGGCGCCGGAGCCGCTGACTGACGCTGAGGGCCTCTTCTC
CTTCGCTGACTTCGGGTCTGCGCTGGGCGGCGGCGGCGCGGGCCTCTCGGGCCGGGCGTCCGGC
GGGGCCCAGTCGCCGCTGCGCTACTTGCACGTCCTGTGGCAGCAGGATGCGGAGCCGCGCGACG
AGCTGCGCTGCAAGATACCCGCTGGCCGGCTGAGGCGCGCTGCCAGGCCCCACCGGCGGCTCGG
GCCCACGGGCAAGGAGGTGCACGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCAATGATGTG
GAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAAGGGCCGCA
CAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGGCCAAGAGGCCCTCCCCAAATC
CTCAGTTCCTGGCCCTCAGGGCTTTGCCCATGAACTCTGCTGCTCCTGGACCATGGTGCTGATC
CTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACCAACCACGTTCC
TGTCATCACCACACTGCTACGAGGAGGTATGTGGTTTCTTCCCCTCTCTGTCCTCTTTCTCCCC
CTCACCCCCAGAATGCTCACCTCAGCTGGTACCTGCAGGGGCCCGTGTAGATGCCCTGGACCGA
GCTGGTCGCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCC
AGTGCCTAGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGA
GCGCCTAGGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACC
AGTACCAAAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGC
AGATGCAGAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCC
TGCCCCACTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTC
TGGTGAGGACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTC
AGAGCCACTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTT
CCAGTTCTCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATC
TCAGCAGACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTG
TTCCGTCCTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCC
AGGGGTACTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTC
ACCAGACTTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCC
CAGACCTTAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCC
AGTCATTGAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTA
GGCCAGTAGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGT
ATGGCCAAAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAG
CTTGTTCAGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGA
GGAGGTTGGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGA
GTCCAGGCCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTG
CTCCCACCTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGG
GAATAAATTTGTGTTGTTTTAAGTCAC

hide sequence

RefSeq Acc Id:

XM_011529882 ⟹ XP_011528184

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,843,848 (-)	NCBI

Sequence:

show sequence

GTGGCCGCGCTTTGGTCGCCCCCGACCCTCAGCCGGGGTCCCCCGACGTCTGCGCTGAGGGCCA
CACTGACCCTTGAGTCTCCTTTCAGTAACGATGGTGATGATGGTTTTTTTAGAAAGTCTTCCTG
CTCTGAGCCAGTCACCCCAGTCTTCTCTCACTGGGTAATTTCTGAATGGAAACTTCCCATGACT
CGGAACGCTTATTGGTGAATAATAAAATGAGCTCTGAAGAGACTGAGGGACTCGGCCAATGCCA
ATGATGTGGAAACAGTGCAGCAGCTGCTGGAAGATGGCGCGGATCCCTGTGCAGCTGATGACAA
GGGCCGCACAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATTGCTGCTCCTGGACCA
TGGTGCTGATCCTAACCAGCGAGATGGGCTGGGGAACACGCCACTGCACCTGGCGGCCTGCACC
AACCACGTTCCTGTCATCACCACACTGCTACGAGGAGGGGCCCGTGTAGATGCCCTGGACCGAG
CTGGTCGCACACCCCTGCACCTGGCCAAGTCAAAGCTGAATATCCTGCAGGAGGGCCATGCCCA
GTGCCTAGAGGCTGTGCGTCTGGAGGTGAAGCAGATCATCCATATGCTGAGGGAGTATCTGGAG
CGCCTAGGGCAACATGAGCAGCGAGAACGCCTGGATGACCTCTGCACCCGCCTGCAGATGACCA
GTACCAAAGAGCAGGTGGATGAAGTGACTGACCTCCTGGCCAGCTTCACCTCCCTCAGTCTGCA
GATGCAGAGCATGGAGAAGAGGTAGCAAGAGAGGCTCCCTGCCTTCCTGCCACTGCCCCACCCT
GCCCCACTGCTGTCTCAGTACCAAGAAAAAGCCCAACATCTGGGACTTGGAGCTGCACTTGTCT
GGTGAGGACCTTGCCCTCACCCGCAGATGCCGTGGGGCAGAGATGCTCTCTCTCCACGGCCTCA
GAGCCACTCCCAGCCACAGTTTCCAGCATCTCTGTGGACAGGGACCACAGCTCCCAGCTTCTTC
CAGTTCTCGCAGCACCAGACCAGCCTCTGCAGCTGCACTTCAGCTCCGCAGACCTGCGCTATCT
CAGCAGACCTCACTTGCCCCATGGCCTTCATGGCGCGCTCCAGGCCTCAGACCCTTCTCTGTGT
TCCGTCCTGGCCATGGGCTTGTTGCAGTCAGCAGGTGTGGGCTTAGGCGGGCACCCTGTGGCCA
GGGGTACTGCGTGAGGCCCTCAGTTGGTCCTGTGCCTCTCACCAGCACTTAGACAGACACGTCA
CCAGACTTTCAAGGAGATACTGCAGTGAGTTTCTCTGGTTGGAAGGGGAGGGTTGGTGAGTCCC
AGACCTTAAAAATACAAGGTTAAGAGGGACCCCAAAGCAAAAAATTCCAACCCTTTTCCTCCCA
GTCATTGAAACACCAAAACTATTATACCGGAGGGTGTAATAGTTTTGCTGCCCAGTTGTGGTAG
GCCAGTAGTGGCCTCCCAAGATGCCCATGTCCTAATCCCAGGAACCTGTCAAAATTACCTTGTA
TGGCCAAAGGGGCTTTGCAGATGTAATGAAGTTAAGGATCTTTCGCCAGGAAGATTATCCCAGC
TTGTTCAGGAGGGCTTGATGTCCTCACCCGGGTCTGTATAACAGAAGAGCAGGTGACGGGAGAG
GAGGTTGGAGGTGTAGCGATGGAGCAGGAAACTGGAGTTGAGGAGGGCAGCTCAAGCCACAGAG
TCCAGGCCACCTCAGAGCCAGGAAATGCATCCTCCCACAGAGCCCTGGAAGGCCCCAGCCCTGC
TCCCACCTGGACTGGCTCAGTGAGGCTAATTTTATAATTCTGGCTGATTTTAGAACTCTAAGGG
AATAAATTTGTGTTGTTTTAAGTCAC

hide sequence

RefSeq Acc Id:

XM_047441138 ⟹ XP_047297094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,849,341 (-)	NCBI

RefSeq Acc Id:

XM_047441139 ⟹ XP_047297095

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,832,974 - 37,844,447 (-)	NCBI

RefSeq Acc Id:

XM_047441140 ⟹ XP_047297096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,843,848 (-)	NCBI

RefSeq Acc Id:

XM_047441141 ⟹ XP_047297097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,830,855 - 37,843,848 (-)	NCBI

RefSeq Acc Id:

XM_054325099 ⟹ XP_054181074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,306,061 (-)	NCBI

RefSeq Acc Id:

XM_054325100 ⟹ XP_054181075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,310,946 (-)	NCBI

RefSeq Acc Id:

XM_054325101 ⟹ XP_054181076

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,294,606 - 38,306,061 (-)	NCBI

RefSeq Acc Id:

XM_054325102 ⟹ XP_054181077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,305,462 (-)	NCBI

RefSeq Acc Id:

XM_054325103 ⟹ XP_054181078

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,305,462 (-)	NCBI

RefSeq Acc Id:

XM_054325104 ⟹ XP_054181079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,305,462 (-)	NCBI

RefSeq Acc Id:

XM_054325105 ⟹ XP_054181080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,292,487 - 38,305,462 (-)	NCBI

RefSeq Acc Id:

XR_007067958

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,833,044 - 37,844,447 (-)	NCBI

RefSeq Acc Id:

XR_008485367

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	38,294,676 - 38,306,061 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001336782	(Get FASTA)	NCBI Sequence Viewer
	NP_001350768	(Get FASTA)	NCBI Sequence Viewer
	NP_620152	(Get FASTA)	NCBI Sequence Viewer
	XP_006724199	(Get FASTA)	NCBI Sequence Viewer
	XP_011528179	(Get FASTA)	NCBI Sequence Viewer
	XP_011528184	(Get FASTA)	NCBI Sequence Viewer
	XP_047297094	(Get FASTA)	NCBI Sequence Viewer
	XP_047297095	(Get FASTA)	NCBI Sequence Viewer
	XP_047297096	(Get FASTA)	NCBI Sequence Viewer
	XP_047297097	(Get FASTA)	NCBI Sequence Viewer
	XP_054181074	(Get FASTA)	NCBI Sequence Viewer
	XP_054181075	(Get FASTA)	NCBI Sequence Viewer
	XP_054181076	(Get FASTA)	NCBI Sequence Viewer
	XP_054181077	(Get FASTA)	NCBI Sequence Viewer
	XP_054181078	(Get FASTA)	NCBI Sequence Viewer
	XP_054181079	(Get FASTA)	NCBI Sequence Viewer
	XP_054181080	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH14641	(Get FASTA)	NCBI Sequence Viewer
	AAH66909	(Get FASTA)	NCBI Sequence Viewer
	BAC87043	(Get FASTA)	NCBI Sequence Viewer
	CAG30357	(Get FASTA)	NCBI Sequence Viewer
	EAW60192	(Get FASTA)	NCBI Sequence Viewer
	EAW60193	(Get FASTA)	NCBI Sequence Viewer
	EAW60194	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000215941
	ENSP00000215941.4
	ENSP00000384392
	ENSP00000384392.1
	ENSP00000385180
	ENSP00000385180.2
	ENSP00000387507
	ENSP00000387507.1
	ENSP00000391744.1
	ENSP00000393035.1
	ENSP00000405782.2
	ENSP00000412534.2
	ENSP00000477088.1
GenBank Protein	Q6NXT1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_620152 ⟸ NM_138797
- Peptide Label:	isoform 1
- UniProtKB:	Q6ZSB1 (UniProtKB/Swiss-Prot), Q9UGV1 (UniProtKB/Swiss-Prot), Q6NXT1 (UniProtKB/Swiss-Prot), D3YTC9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAAAGDADDEPRSGHSSSEGECAVAPEPLTDAEGLFSFADFGSALGGGGAGLSGRASGGAQSP LRYLHVLWQQDAEPRDELRCKIPAGRLRRAARPHRRLGPTGKEVHALKRLRDSANANDVETVQQ LLEDGADPCAADDKGRTALHFASCNGNDQIVQLLLDHGADPNQRDGLGNTPLHLAACTNHVPVI TTLLRGGARVDALDRAGRTPLHLAKSKLNILQEGHAQCLEAVRLEVKQIIHMLREYLERLGQHE QRERLDDLCTRLQMTSTKEQVDEVTDLLASFTSLSLQMQSMEKR hide sequence

RefSeq Acc Id:

XP_006724199 ⟸ XM_006724136

- Peptide Label:

isoform X4

- Sequence:

show sequence

MPMMWKQCSSCWKMARIPVQLMTRAAQLYTLPHAMAMTRLCSCSWTMVLILTSEMGWGTRHCTW
RPAPTTFLSSPHCYEEVCGFFPSLSSFSPSPPECSPQLVPAGARVDALDRAGRTPLHLAKSKLN
ILQEGHAQCLEAVRLEVKQIIHMLREYLERLGQHEQRERLDDLCTRLQMTSTKEQVDEVTDLLA
SFTSLSLQMQSMEKR

hide sequence

RefSeq Acc Id:

XP_011528179 ⟸ XM_011529877

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAAAAGDADDEPRSGHSSSEGECAVAPEPLTDAEGLFSFADFGSALGGGGAGLSGRASGGAQSP
LRYLHVLWQQDAEPRDELRCKIPAGRLRRAARPHRRLGPTGKEVHALKRLRDSANANDVETVQQ
LLEDGADPCAADDKGRTALHFASCNGNDQIGQEALPKSSVPGPQGFAHELCCSWTMVLILTSEM
GWGTRHCTWRPAPTTFLSSPHCYEEVCGFFPSLSSFSPSPPECSPQLVPAGARVDALDRAGRTP
LHLAKSKLNILQEGHAQCLEAVRLEVKQIIHMLREYLERLGQHEQRERLDDLCTRLQMTSTKEQ
VDEVTDLLASFTSLSLQMQSMEKR

hide sequence

RefSeq Acc Id:	XP_011528184 ⟸ XM_011529882
- Peptide Label:	isoform X7
- UniProtKB:	F8WB76 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPMMWKQCSSCWKMARIPVQLMTRAAQLYTLPHAMAMTRLLLLDHGADPNQRDGLGNTPLHLAA CTNHVPVITTLLRGGARVDALDRAGRTPLHLAKSKLNILQEGHAQCLEAVRLEVKQIIHMLREY LERLGQHEQRERLDDLCTRLQMTSTKEQVDEVTDLLASFTSLSLQMQSMEKR hide sequence

RefSeq Acc Id:

NP_001336782 ⟸ NM_001349853

- Peptide Label:

isoform 2

- Sequence:

show sequence

MENRSHPTLDIKVGAGKDEASCVAKPGTWAALEYTGFEARGNPQALKRLRDSANANDVETVQQL
LEDGADPCAADDKGRTALHFASCNGNDQIVQLLLDHGADPNQRDGLGNTPLHLAACTNHVPVIT
TLLRGGARVDALDRAGRTPLHLAKSKLNILQEGHAQCLEAVRLEVKQIIHMLREYLERLGQHEQ
RERLDDLCTRLQMTSTKEQVDEVTDLLASFTSLSLQMQSMEKR

hide sequence

RefSeq Acc Id:	NP_001350768 ⟸ NM_001363839
- Peptide Label:	isoform 3
- UniProtKB:	B5MCX7 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000477088 ⟸ ENST00000609454

RefSeq Acc Id:

ENSP00000393035 ⟸ ENST00000424350

RefSeq Acc Id:

ENSP00000405782 ⟸ ENST00000411961

RefSeq Acc Id:

ENSP00000215941 ⟸ ENST00000215941

RefSeq Acc Id:

ENSP00000391744 ⟸ ENST00000413497

RefSeq Acc Id:

ENSP00000412534 ⟸ ENST00000458278

RefSeq Acc Id:

ENSP00000384392 ⟸ ENST00000406423

RefSeq Acc Id:

ENSP00000385180 ⟸ ENST00000407117

RefSeq Acc Id:

ENSP00000387507 ⟸ ENST00000434930

RefSeq Acc Id:	XP_047297094 ⟸ XM_047441138
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047297097 ⟸ XM_047441141
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_047297096 ⟸ XM_047441140
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047297095 ⟸ XM_047441139
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054181075 ⟸ XM_054325100
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054181074 ⟸ XM_054325099
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054181079 ⟸ XM_054325104
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054181080 ⟸ XM_054325105
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054181077 ⟸ XM_054325102
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054181078 ⟸ XM_054325103
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054181076 ⟸ XM_054325101
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6NXT1-F1-model_v2	AlphaFold	Q6NXT1	1-300	view protein structure

Promoters

RGD ID:

6799662

Promoter ID:

HG_KWN:42742

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000406423, ENST00000407117, OTTHUMT00000319490, OTTHUMT00000319492, OTTHUMT00000319494, OTTHUMT00000319495, OTTHUMT00000319496, OTTHUMT00000319497, UC003AUD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	36,570,166 - 36,571,222 (-)	MPROMDB

RGD ID:

13604012

Promoter ID:

EPDNEW_H28190

Type:

initiation region

Name:

ANKRD54_1

Description:

ankyrin repeat domain 54

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	37,844,334 - 37,844,394	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25185	AgrOrtholog
COSMIC	ANKRD54	COSMIC
Ensembl Genes	ENSG00000100124	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000215941	ENTREZGENE
	ENST00000215941.9	UniProtKB/Swiss-Prot
	ENST00000406423	ENTREZGENE
	ENST00000406423.5	UniProtKB/TrEMBL
	ENST00000407117	ENTREZGENE
	ENST00000407117.6	UniProtKB/TrEMBL
	ENST00000411961.6	UniProtKB/TrEMBL
	ENST00000413497.5	UniProtKB/TrEMBL
	ENST00000424350.5	UniProtKB/TrEMBL
	ENST00000434930	ENTREZGENE
	ENST00000434930.1	UniProtKB/TrEMBL
	ENST00000458278.6	UniProtKB/TrEMBL
	ENST00000609454.5	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000100124	GTEx
HGNC ID	HGNC:25185	ENTREZGENE
Human Proteome Map	ANKRD54	Human Proteome Map
InterPro	Ankyrin_rpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ankyrin_rpt-contain_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:129138	UniProtKB/Swiss-Prot
NCBI Gene	129138	ENTREZGENE
OMIM	613383	OMIM
PANTHER	ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54	UniProtKB/Swiss-Prot
	ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54	UniProtKB/TrEMBL
	ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54	UniProtKB/TrEMBL
	ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 61	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Ank	UniProtKB/Swiss-Prot
	Ank_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ank_4	UniProtKB/TrEMBL
	Ank_5	UniProtKB/TrEMBL
PharmGKB	PA145149843	PharmGKB
PRINTS	ANKYRIN	UniProtKB/TrEMBL
PROSITE	ANK_REP_REGION	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ANK_REPEAT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ANK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF48403	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ANR54_HUMAN	UniProtKB/Swiss-Prot
	B5MCX7	ENTREZGENE, UniProtKB/TrEMBL
	C9JU48_HUMAN	UniProtKB/TrEMBL
	C9JX82_HUMAN	UniProtKB/TrEMBL
	D3YTC9	ENTREZGENE, UniProtKB/TrEMBL
	F8WB76	ENTREZGENE, UniProtKB/TrEMBL
	H7BZV9_HUMAN	UniProtKB/TrEMBL
	H7C3L3_HUMAN	UniProtKB/TrEMBL
	Q6NXT1	ENTREZGENE
	Q6ZSB1	ENTREZGENE
	Q9UGV1	ENTREZGENE
	V9GYU2_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	Q6ZSB1	UniProtKB/Swiss-Prot
	Q9UGV1	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar