KLHL13 (kelch like family member 13)

Gene: KLHL13 (kelch like family member 13) Homo sapiens

Analyze

Symbol:

KLHL13

Name:

kelch like family member 13

RGD ID:

1342476

HGNC Page

HGNC:22931

Description:

Contributes to ubiquitin-protein transferase activity. Involved in protein ubiquitination and regulation of cytokinesis. Part of Cul3-RING ubiquitin ligase complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BKLHD2; BTB and kelch domain containing 2; FLJ10262; kelch-like 13; kelch-like family member 13; kelch-like protein 13; KIAA1309; MGC74791

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):	Klhl13 (kelch-like 13)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Klhl13 (kelch-like family member 13)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Klhl13 (kelch like family member 13)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	KLHL13 (kelch like family member 13)	NCBI	Ortholog
Canis lupus familiaris (dog):	KLHL13 (kelch like family member 13)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Klhl13 (kelch like family member 13)	NCBI	Ortholog
Sus scrofa (pig):	KLHL13 (kelch like family member 13)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	KLHL13 (kelch like family member 13)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Klhl13 (kelch like family member 13)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Klhl9 (kelch-like 9)	HGNC	OrthoMCL
Alliance orthologs ³
Mus musculus (house mouse):	Klhl13 (kelch-like 13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Klhl13 (kelch-like family member 13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	klhl13 (kelch-like family member 13)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	klhl13	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	klhl13.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	klhl13.S	Alliance	DIOPT (Xenbase)

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	X	117,897,813 - 118,117,340 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	117,897,813 - 118,117,340 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	117,031,776 - 117,251,303 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	116,915,804 - 116,990,881 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	116,813,657 - 116,888,735	NCBI
Celera	X	117,486,583 - 117,706,100 (-)	NCBI		Celera
Cytogenetic Map	X	q24	NCBI
HuRef	X	106,526,310 - 106,745,823 (-)	NCBI		HuRef
CHM1_1	X	116,942,701 - 117,162,205 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	116,275,375 - 116,494,936 (-)	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

autistic disorder (IAGP)

genetic disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

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

3,4-dichloroaniline (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

aflatoxin B1 (EXP,ISO)

alpha-pinene (EXP)

amphetamine (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

cisplatin (ISO)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP,ISO)

diuron (EXP,ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

folpet (ISO)

fulvestrant (EXP)

gallic acid (EXP)

genistein (ISO)

hydrogen peroxide (EXP)

hydroquinone O-beta-D-glucopyranoside (EXP)

ivermectin (EXP)

kojic acid (EXP)

lead(0) (EXP)

Licochalcone B (EXP)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (ISO)

phenylmercury acetate (EXP)

pioglitazone (ISO)

pirinixic acid (ISO)

propanal (EXP)

propiconazole (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

sulforaphane (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

topotecan (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

triptonide (ISO)

tunicamycin (EXP)

valproic acid (EXP,ISO)

XL147 (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell division (IEA)

protein ubiquitination (IBA,IDA,IEA)

regulation of cytokinesis (IBA,IEA,IMP)

Cellular Component

Cul3-RING ubiquitin ligase complex (IBA,IDA,IEA)

cytosol (TAS)

Molecular Function

cullin family protein binding (IBA,IEA)

protein binding (IPI)

ubiquitin-protein transferase activity (IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

ubiquitin/proteasome degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10718198	PMID:12477932	PMID:14528312	PMID:14702039	PMID:15342556	PMID:15489334	PMID:15772651	PMID:16344560	PMID:17543862	PMID:18075312	PMID:18775313	PMID:19084217
PMID:19295130	PMID:19615732	PMID:19995937	PMID:21145461	PMID:21873635	PMID:22939624	PMID:23314748	PMID:23676014	PMID:25921289	PMID:26186194	PMID:26496610	PMID:27565346
PMID:28514442	PMID:28581483	PMID:28619731	PMID:29507755	PMID:30021884	PMID:30190310	PMID:31067453	PMID:31515271	PMID:31594818	PMID:32393512	PMID:33130828	PMID:33173725
PMID:33504946	PMID:33872809	PMID:33961781	PMID:34591642	PMID:34878901	PMID:35563538	PMID:36215168	PMID:37827155

Genomics

Comparative Map Data

KLHL13
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	117,897,813 - 118,117,340 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	117,897,813 - 118,117,340 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	117,031,776 - 117,251,303 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	116,915,804 - 116,990,881 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	116,813,657 - 116,888,735	NCBI
Celera	X	117,486,583 - 117,706,100 (-)	NCBI		Celera
Cytogenetic Map	X	q24	NCBI
HuRef	X	106,526,310 - 106,745,823 (-)	NCBI		HuRef
CHM1_1	X	116,942,701 - 117,162,205 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	116,275,375 - 116,494,936 (-)	NCBI		T2T-CHM13v2.0

Klhl13
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	23,085,510 - 23,231,340 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	23,085,510 - 23,231,321 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	23,219,271 - 23,365,161 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	23,219,271 - 23,365,082 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	22,796,397 - 22,942,179 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	22,376,230 - 22,522,012 (-)	NCBI		MGSCv36	mm8
Celera	X	21,314,201 - 21,459,747 (-)	NCBI		Celera
Cytogenetic Map	X	A2	NCBI
cM Map	X	17.22	NCBI

Klhl13
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	118,747,298 - 118,912,279 (-)	NCBI		GRCr8
mRatBN7.2	X	113,942,309 - 114,107,299 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	113,942,309 - 114,107,321 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	115,990,571 - 116,147,826 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	119,481,828 - 119,639,088 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	117,035,451 - 117,192,707 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	121,578,965 - 121,735,014 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	121,578,940 - 121,731,543 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	121,716,856 - 121,876,640 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	10,344,050 - 10,424,665 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	113,160,518 - 113,316,894 (-)	NCBI		Celera
Cytogenetic Map	X	q34	NCBI

Klhl13
(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_004955534	1,906,928 - 2,127,485 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955534	1,906,783 - 2,127,266 (+)	NCBI	ChiLan1.0	ChiLan1.0

KLHL13
(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	X	117,254,392 - 117,473,257 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	117,258,000 - 117,476,865 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	106,904,105 - 107,122,969 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	117,320,192 - 117,538,413 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	117,320,192 - 117,450,771 (-)	Ensembl	panpan1.1		panPan2

KLHL13
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	90,138,375 - 90,355,105 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	90,139,103 - 90,355,188 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	76,279,833 - 76,496,370 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	91,884,816 - 92,095,044 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	91,884,337 - 92,095,004 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	89,332,313 - 89,549,137 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	91,091,066 - 91,300,985 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	90,826,306 - 91,036,222 (-)	NCBI		UU_Cfam_GSD_1.0

Klhl13
(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	X	89,133,964 - 89,315,675 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	11,744,058 - 11,853,558 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936479	11,671,773 - 11,853,531 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KLHL13
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	96,544,095 - 96,744,764 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	96,545,099 - 96,950,242 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	114,935,916 - 115,075,998 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

KLHL13
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666065	30,654,763 - 30,848,024 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Klhl13
(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_004624895	1,713,999 - 1,832,818 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624895	1,714,144 - 1,917,653 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in KLHL13
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033495.3(KLHL13):c.1148G>A (p.Gly383Asp)	single nucleotide variant	Malignant melanoma [RCV000073048]	ChrX:117909519 [GRCh38] ChrX:117043482 [GRCh37] ChrX:116927510 [NCBI36] ChrX:Xq24	not provided
NM_033495.3(KLHL13):c.1087G>A (p.Asp363Asn)	single nucleotide variant	Malignant melanoma [RCV000073049]	ChrX:117909580 [GRCh38] ChrX:117043543 [GRCh37] ChrX:116927571 [NCBI36] ChrX:Xq24	not provided
NM_033495.3(KLHL13):c.817G>A (p.Asp273Asn)	single nucleotide variant	Malignant melanoma [RCV000073050]	ChrX:117909850 [GRCh38] ChrX:117043813 [GRCh37] ChrX:116927841 [NCBI36] ChrX:Xq24	not provided
NM_033495.3(KLHL13):c.298G>A (p.Asp100Asn)	single nucleotide variant	Malignant melanoma [RCV000063938]	ChrX:117920313 [GRCh38] ChrX:117054276 [GRCh37] ChrX:116938304 [NCBI36] ChrX:Xq24	not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3	copy number gain	See cases [RCV000140467]	ChrX:117115633..118037937 [GRCh38] ChrX:116249601..117171900 [GRCh37] ChrX:116133629..117055928 [NCBI36] ChrX:Xq23-24	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1	copy number loss	Premature ovarian failure [RCV000225336]	ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq24(chrX:116556284-117496039)x3	copy number gain	See cases [RCV000447608]	ChrX:116556284..117496039 [GRCh37] ChrX:Xq24	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3	copy number gain	See cases [RCV000510739]	ChrX:111149921..117993284 [GRCh37] ChrX:Xq23-24	likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq23-24(chrX:115996197-117104069)x3	copy number gain	not provided [RCV000684376]	ChrX:115996197..117104069 [GRCh37] ChrX:Xq23-24	likely benign
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_001168302.2(KLHL13):c.678C>T (p.Phe226=)	single nucleotide variant	not provided [RCV000973003]	ChrX:117909941 [GRCh38] ChrX:117043904 [GRCh37] ChrX:Xq24	benign
NM_001168302.2(KLHL13):c.1056G>A (p.Glu352=)	single nucleotide variant	not provided [RCV000905877]	ChrX:117909563 [GRCh38] ChrX:117043526 [GRCh37] ChrX:Xq24	benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
NM_001168302.2(KLHL13):c.960G>A (p.Arg320=)	single nucleotide variant	not provided [RCV000916326]	ChrX:117909659 [GRCh38] ChrX:117043622 [GRCh37] ChrX:Xq24	likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	copy number gain	not provided [RCV001007336]	ChrX:117119895..129850963 [GRCh37] ChrX:Xq24-26.1	pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001168302.2(KLHL13):c.1011G>C (p.Leu337=)	single nucleotide variant	not provided [RCV000897689]	ChrX:117909608 [GRCh38] ChrX:117043571 [GRCh37] ChrX:Xq24	benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xq23-24(chrX:116222262-117162934)x3	copy number gain	not provided [RCV001259493]	ChrX:116222262..117162934 [GRCh37] ChrX:Xq23-24	likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	copy number gain	not provided [RCV001259495]	ChrX:117120780..129850994 [GRCh37] ChrX:Xq24-26.1	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq23-24(chrX:115996197-117108880)	copy number gain	not specified [RCV002053178]	ChrX:115996197..117108880 [GRCh37] ChrX:Xq23-24	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	pathogenic
NM_001168302.2(KLHL13):c.520G>T (p.Gly174Trp)	single nucleotide variant	Inborn genetic diseases [RCV003262710]	ChrX:117919523 [GRCh38] ChrX:117053486 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	copy number loss	not provided [RCV002474518]	ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24	pathogenic
NM_001168302.2(KLHL13):c.845C>T (p.Thr282Met)	single nucleotide variant	Inborn genetic diseases [RCV002952279]	ChrX:117909774 [GRCh38] ChrX:117043737 [GRCh37] ChrX:Xq24	uncertain significance
NM_001168302.2(KLHL13):c.200A>C (p.Asp67Ala)	single nucleotide variant	Inborn genetic diseases [RCV002823142]	ChrX:117920363 [GRCh38] ChrX:117054326 [GRCh37] ChrX:Xq24	uncertain significance
NM_001168302.2(KLHL13):c.1508C>T (p.Ala503Val)	single nucleotide variant	Inborn genetic diseases [RCV002758738]	ChrX:117899320 [GRCh38] ChrX:117033283 [GRCh37] ChrX:Xq24	uncertain significance
NM_001168302.2(KLHL13):c.1030C>T (p.Arg344Cys)	single nucleotide variant	Inborn genetic diseases [RCV002709265]	ChrX:117909589 [GRCh38] ChrX:117043552 [GRCh37] ChrX:Xq24	uncertain significance
NM_001168302.2(KLHL13):c.734C>G (p.Thr245Ser)	single nucleotide variant	Inborn genetic diseases [RCV002701707]	ChrX:117909885 [GRCh38] ChrX:117043848 [GRCh37] ChrX:Xq24	uncertain significance
NM_001168302.2(KLHL13):c.128A>G (p.Gln43Arg)	single nucleotide variant	Inborn genetic diseases [RCV003203559]	ChrX:117945498 [GRCh38] ChrX:117079461 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	copy number gain	not provided [RCV003483973]	ChrX:110921170..124327177 [GRCh37] ChrX:Xq23-25	pathogenic
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	pathogenic
NM_001168302.2(KLHL13):c.249T>C (p.Gly83=)	single nucleotide variant	not provided [RCV003432436]	ChrX:117920314 [GRCh38] ChrX:117054277 [GRCh37] ChrX:Xq24	likely benign
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	copy number gain	not provided [RCV003485304]	ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24	pathogenic
NM_001168302.2(KLHL13):c.1368C>T (p.Ala456=)	single nucleotide variant	not provided [RCV003432434]	ChrX:117901897 [GRCh38] ChrX:117035860 [GRCh37] ChrX:Xq24	likely benign
NM_001168302.2(KLHL13):c.1725G>A (p.Val575=)	single nucleotide variant	not provided [RCV003432432]	ChrX:117899103 [GRCh38] ChrX:117033066 [GRCh37] ChrX:Xq24	likely benign
NM_001168302.2(KLHL13):c.1509G>A (p.Ala503=)	single nucleotide variant	not provided [RCV003432433]	ChrX:117899319 [GRCh38] ChrX:117033282 [GRCh37] ChrX:Xq24	likely benign
NM_001168302.2(KLHL13):c.1053T>C (p.His351=)	single nucleotide variant	not provided [RCV003432435]	ChrX:117909566 [GRCh38] ChrX:117043529 [GRCh37] ChrX:Xq24	likely benign
NM_001168302.2(KLHL13):c.50G>A (p.Arg17Gln)	single nucleotide variant	not provided [RCV003432437]	ChrX:118028424 [GRCh38] ChrX:117162387 [GRCh37] ChrX:Xq24	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	6047
Count of miRNA genes:	692
Interacting mature miRNAs:	788
Transcripts:	ENST00000262820, ENST00000371876, ENST00000371878, ENST00000371882, ENST00000447671, ENST00000453826, ENST00000469946, ENST00000539496, ENST00000540167, ENST00000541812, ENST00000545703
Prediction methods:	Miranda, Pita, 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

AL032573

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,112,263 - 117,112,441	UniSTS	GRCh37
Build 36	X	116,996,291 - 116,996,469	RGD	NCBI36
Celera	X	117,567,058 - 117,567,236	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,606,339 - 106,606,517	UniSTS

DXS1305

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,127,070 - 117,127,176	UniSTS	GRCh37
Build 36	X	117,011,098 - 117,011,204	RGD	NCBI36
Celera	X	117,581,863 - 117,581,969	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,621,312 - 106,621,418	UniSTS

DXS7918

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,111,914 - 117,112,056	UniSTS	GRCh37
Build 36	X	116,995,942 - 116,996,084	RGD	NCBI36
Celera	X	117,566,709 - 117,566,851	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,605,990 - 106,606,132	UniSTS

AL031562

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,177,522 - 117,177,742	UniSTS	GRCh37
Build 36	X	117,061,550 - 117,061,770	RGD	NCBI36
Celera	X	117,632,314 - 117,632,534	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,672,202 - 106,672,422	UniSTS

DXS8218

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,162,672 - 117,162,777	UniSTS	GRCh37
Build 36	X	117,046,700 - 117,046,805	RGD	NCBI36
Celera	X	117,617,464 - 117,617,569	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,657,352 - 106,657,457	UniSTS

AF020103

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,158,208 - 117,158,272	UniSTS	GRCh37
Build 36	X	117,042,236 - 117,042,300	RGD	NCBI36
Celera	X	117,613,000 - 117,613,064	RGD
Cytogenetic Map	X	q23-q24	UniSTS
HuRef	X	106,652,888 - 106,652,952	UniSTS

RH65357

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q23-q24	UniSTS
GeneMap99-GB4 RH Map	9	62.98	UniSTS

KLHL13

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	117,053,542 - 117,054,248	UniSTS	GRCh37
Celera	X	117,508,350 - 117,509,056	UniSTS
HuRef	X	106,548,070 - 106,548,776	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

100

235

248

Low

2232

2090

1391

431

569

272

3608

1818

3337

301

1157

1213

169

1143

2391

Below cutoff

775

316

183

1096

184

638

322

151

302

375

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001394866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011531411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB037730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC003012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC006968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001124	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL591986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP380009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA214831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA413195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB074659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC343916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC354391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000262820 ⟹ ENSP00000262820

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,814 - 117,973,738 (-)	Ensembl

RefSeq Acc Id:

ENST00000371876 ⟹ ENSP00000360943

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,814 - 117,947,942 (-)	Ensembl

RefSeq Acc Id:

ENST00000371878 ⟹ ENSP00000360945

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,814 - 117,973,579 (-)	Ensembl

RefSeq Acc Id:

ENST00000371882 ⟹ ENSP00000360949

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,813 - 118,116,798 (-)	Ensembl

RefSeq Acc Id:

ENST00000453826 ⟹ ENSP00000393807

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,920,345 - 118,028,495 (-)	Ensembl

RefSeq Acc Id:

ENST00000469946 ⟹ ENSP00000419803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,898,572 - 117,985,320 (-)	Ensembl

RefSeq Acc Id:

ENST00000540167 ⟹ ENSP00000441029

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,813 - 118,116,810 (-)	Ensembl

RefSeq Acc Id:

ENST00000541812 ⟹ ENSP00000444450

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,814 - 118,117,340 (-)	Ensembl

RefSeq Acc Id:

ENST00000545703 ⟹ ENSP00000440707

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	117,897,814 - 118,116,865 (-)	Ensembl

RefSeq Acc Id:

NM_001168299 ⟹ NP_001161771

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 117,985,329 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,030,310 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,362,895 (-)	NCBI

Sequence:

show sequence

TAAAACTCCAGAGAATTTGATGAGAGAGGGATCCACAAGAACATGACAAATGATGAGAGTTCAA
ACCTTAAGAGAAAAATGGGCTTATTGGAGACGGAGGCAATTGTCATTAAAACAAGCCGATTTCA
AGGATATATTCAAAAAATCAACTTCAGGATCTCTCGTGGAAGAGGAAGACCAACACATGAAATT
GTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGACCTACA
CGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTCGACTTG
AAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGTGCATAG
AGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAAGAACAA
GATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTGATTTCA
TTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGCCAGTTT
CCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACTTTAGAC
AACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAATACGTTA
ACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACTCCCTTT
TGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAGCTCTTT
AAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAATTAATGA
AGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGTGGATTT
CATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATGATGCCA
TATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACTTGGTTA
CACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGATGAAAA
GGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATCGCCGTC
ATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAACGGCAG
TTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTTAAATGA
AAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGGCGAAAT
GCAGCAGGTGAACTGCCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCTATGTTG
CCAAAATGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTATATTTC
AGGAGGAATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACTGACAAA
TGGATCCAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGGGAGAAA
GGCTCTATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCTAAGCTG
TGAATACTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGGCAGAGT
GATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGAATAATC
GTTGTATGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGTTTTTGA
TCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAAGAAACC
ACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACTAAGATG
CTGTAGTTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGTATATAT
GTTAGGATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGATGTTATTTGT
GCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTATCCCAT
AGAAGCTGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGTACTTTT
TAAATGCTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAGCCAAGT
TGAAGGTGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTTTCCTTT
CATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACACAAAAGG
TTGCCAACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTCAACCCA
CTTGACTGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGCTTAAAT
TCACTAATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGTGTTTTT
AAAGTGTGTATACATACATACACATACACACATGCACATATGTCAAATATAATTTTTTTAAAAA
TTGAGTGGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTCCATTAA
AATGGGAATTCAGTATGCACATACTGAATGCATATATGTAGAACCATACAGAATTTAGGTGGAT
AAGGGCTAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAAACTGTA
TTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATACTCAGTT
CATAAGGTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAGTAAATT
CAACTTCCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001168300 ⟹ NP_001161772

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 117,973,724 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,018,694 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,351,295 (-)	NCBI

Sequence:

show sequence

ACTCTGTACTTCGCTGCTGCAGAAGAGAGAGTGATATTTGTGTTACTACAGCATGTTGTAAATG
TGTGAGATTTTGCTCATCTCAGCTTGGAAATAAGAATAGGGAAAGGAGAGCAACTTGAATCAGA
AGCTACTAGAAGAACCTGCAGAGTTCTGAAGCAGTTTATATTCTTCTTACATTTTGCCTTCTCC
TAGCTGGAAAGCAGAGGGACTGGAATTTTTGAAACGGGCTTTTCCCATAATGGCATTCTTGATT
TGTGTGGCCAGAGCTTGCACAGGAGGAAAGCAGGCTGCTGAATTTAGTCACTGATCTCTATTAG
CGGTAGCCTAAGGCTATGCTGAGGTTTATATCCCATTTGTATTGTTGCAGCTCAAAAGAAGATT
GTTCAGAGGATGACAAGTGTATTCTGAGTAGATCTCTCGTGGAAGAGGAAGACCAACACATGAA
ATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGACCT
ACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTCGAC
TTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGTGCA
TAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAAGAA
CAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTGATT
TCATTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGCCAG
TTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACTTTA
GACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAATACG
TTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACTCCC
TTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAGCTC
TTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAATTAA
TGAAGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGTGGA
TTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATGATG
CCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACTTGG
TTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGATGA
AAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATCGCC
GTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAACGG
CAGTTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTTAAA
TGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGGCGA
AATGCAGCAGGTGAACTGCCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCTATG
TTGCCAAAATGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTATAT
TTCAGGAGGAATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACTGAC
AAATGGATCCAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGGGAG
AAAGGCTCTATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCTAAG
CTGTGAATACTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGGCAG
AGTGATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGAATA
ATCGTTGTATGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGTTTT
TGATCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAAGAA
ACCACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACTAAG
ATGCTGTAGTTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGTATA
TATGTTAGGATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGATGTTATT
TGTGCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTATCC
CATAGAAGCTGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGTACT
TTTTAAATGCTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAGCCA
AGTTGAAGGTGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTTTCC
TTTCATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACACAAA
AGGTTGCCAACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTCAAC
CCACTTGACTGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGCTTA
AATTCACTAATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGTGTT
TTTAAAGTGTGTATACATACATACACATACACACATGCACATATGTCAAATATAATTTTTTTAA
AAATTGAGTGGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTCCAT
TAAAATGGGAATTCAGTATGCACATACTGAATGCATATATGTAGAACCATACAGAATTTAGGTG
GATAAGGGCTAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAAACT
GTATTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATACTCA
GTTCATAAGGTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAGTAA
ATTCAACTTCCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001168301 ⟹ NP_001161773

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 118,117,340 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,162,205 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,494,936 (-)	NCBI

Sequence:

show sequence

TAGAAGAGTGATATTTGTGTGAGAGCCTGGGTCAGGCTTATTTTGAGACGTGGGCCCCACTGAG
GTCATTATCCAACTTTTAGAGGTGATGGATCATCTGCATAGAGGGGAATTGGTTGCTGCAATAC
TTCGTAACCGATCTCTCGTGGAAGAGGAAGACCAACACATGAAATTGTCCCTTGGAGGCAGCGA
AATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGACCTACACGCATCTTTACCAGCAAT
ACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTCGACTTGAAGGATTGCTTTGTGATG
TGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGTGCATAGAGTCATGATGGCATCTGC
TAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAAGAACAAGATTTAATGTGCATTAAA
CTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTGATTTCATTTATACTGCAAAGCTTT
CTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGCCAGTTTCCTACAGATTCTGCCAGT
TTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACTTTAGACAACTGTGTTGAAGTTGGA
CGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAATACGTTAACAGTTTCGTCTTGAAGA
ATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACTCCCTTTTGAGCGTCTTGCCTTCGT
GCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAGCTCTTTAAGGCTACCTGTCGTTGG
CTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAATTAATGAAGAACATACGATTTCCAC
TGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGTGGATTTCATGAGAACTGACAATAC
TTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATGATGCCATATATGCAGCCAGTTATG
CAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACTTGGTTACACTAGGAGGAGTGCTGA
GGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGATGAAAAGGCCCATGAGTGGAAATC
GTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATCGCCGTCATTGGAAATTTTCTCTAT
GTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAACGGCAGTTGATACAGTCTTCAGAT
TTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTTAAATGAAAAGCGCACCTTCTTCCA
CCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGGCGAAATGCAGCAGGTGAACTGCCC
ACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCTATGTTGCCAAAATGAGTGAGCCCC
ACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTATATTTCAGGAGGAATTACTCATGA
TACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACTGACAAATGGATCCAGAAGGCGCCA
ATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGGGAGAAAGGCTCTATGTCATTGGTG
GCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCTAAGCTGTGAATACTATTCACCTAT
CCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGGCAGAGTGATGTTGGGGTCGCTGTC
TTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGAATAATCGTTGTATGGTAGAGATAG
TGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGTTTTTGATCTGCCAGAATCCCTTGG
TGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAAGAAACCACACCATCACCTTCTAGA
GAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACTAAGATGCTGTAGTTCTATCTTTGC
AATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGTATATATGTTAGGATTACCCTCTGG
TAATTGATACAGATATTGGAAAAAAGACAACATTGATGTTATTTGTGCTCTTTGTTTGGCCTAG
AATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTATCCCATAGAAGCTGATGTTTAACA
TATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGTACTTTTTAAATGCTGTGTATTGGG
TGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAGCCAAGTTGAAGGTGGATTATAGTA
AATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTTTCCTTTCATCTTTGACTGTAAGAT
GTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACACAAAAGGTTGCCAACTCGCATGAGC
TACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTCAACCCACTTGACTGTGTGGGTGCA
TTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGCTTAAATTCACTAATATTAATTTAA
AAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGTGTTTTTAAAGTGTGTATACATACA
TACACATACACACATGCACATATGTCAAATATAATTTTTTTAAAAATTGAGTGGCACATCAAAG
AAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTCCATTAAAATGGGAATTCAGTATGC
ACATACTGAATGCATATATGTAGAACCATACAGAATTTAGGTGGATAAGGGCTAGAAATTTTGA
GCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAAACTGTATTCTACTCCTTCTCCTTT
GCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATACTCAGTTCATAAGGTTATTTAGCAC
AAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAGTAAATTCAACTTCCATGTTTTATC
TTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001168302 ⟹ NP_001161774

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 118,116,810 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,161,730 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,494,406 (-)	NCBI

Sequence:

show sequence

ACACCCTGGTGAGGTCAGGCGGAGGCTCTGCCGCTGCGGCCGCAGTAGCTCAGCTCCTATTCCT
GGGAAGCCTGGAACGGGGACTTTTGAAAATAACTGCAGCGGCATTCGGGTTAGGGTCCGTGCTC
TCCGCCTGCGCCAGGACAGGGTGAAGTGGTCGGGGCGAGCAGAGGGTGCGAAGGTGCGGGTGCT
GGTGCCTCGCAGCAGGAGGGAGCCCCGGCTGCGCCGCGCGACTCCCTCTTTGGCCCTCGGAGCG
CAGCACCCGGCGGACAAGCGGCGGGACGCCAGGACGCGGCGAGCAAGGTCATTATCCAACTTTT
AGAGGTGATGGATCATCTGCATAGAGGGGAATTGGTTGCTGCAATACTTCGTAACCGATCTCTC
GTGGAAGAGGAAGACCAACACATGAAATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCC
ATTTGCAGTCTTCCAAGGCAGGACCTACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGT
GTTACAGGGCTTTGACCAGCTTCGACTTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGT
GACACAGATGATGCTTTCCCTGTGCATAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGG
CTATGTTCACAGGTGGAATGAAAGAACAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAA
AGTCGGTCTAAGGAAAATTATTGATTTCATTTATACTGCAAAGCTTTCTCTTAATATGGACAAC
CTTCAAGACACGCTGGAAGCTGCCAGTTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAG
TGTTTCTCATATCTGGGGTCACTTTAGACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTA
CAATCTAACCGAAGTGGATAAATACGTTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTG
AGCACAGGGGAGTTCTTGAAACTCCCTTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCC
TTAAGCACTGTACTGAACTTGAGCTCTTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCC
TCGGATGGACTTTGCTGCAAAATTAATGAAGAACATACGATTTCCACTGATGACACCACAGGAG
CTCATTAATTACGTGCAAACGGTGGATTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTT
TGGAAGCCAGCAATTACCAAATGATGCCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGC
CATTAGGTCTGACACCACTCACTTGGTTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTC
AGTAAGGAATTGCGCATGTATGATGAAAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATG
CCCCAAGGTACCAGCATGGCATCGCCGTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAG
TAATTATGATACAAAAGGAAAAACGGCAGTTGATACAGTCTTCAGATTTGATCCTCGATACAAT
AAATGGATGCAAGTTGCATCTTTAAATGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAG
GATATCTGTATGCAGTTGGTGGGCGAAATGCAGCAGGTGAACTGCCCACAGTAGAATGTTACAA
TCCAAGAACAAATGAATGGACCTATGTTGCCAAAATGAGTGAGCCCCACTATGGCCATGCTGGA
ACTGTGTATGGAGGAGTGATGTATATTTCAGGAGGAATTACTCATGATACTTTCCAAAAGGAGC
TCATGTGCTTTGACCCTGATACTGACAAATGGATCCAGAAGGCGCCAATGACCACTGTCAGAGG
TCTGCATTGCATGTGTACAGTGGGAGAAAGGCTCTATGTCATTGGTGGCAATCACTTCAGAGGA
ACAAGTGATTATGATGATGTCCTAAGCTGTGAATACTATTCACCTATCCTTGACCAGTGGACCC
CAATTGCTGCCATGTTAAGAGGGCAGAGTGATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTA
TGTGGTTGGGGGGTATTCTTGGAATAATCGTTGTATGGTAGAGATAGTGCAGAAATATGATCCA
GATAAAGATGAATGGCATAAGGTTTTTGATCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCA
CACTCACAGTTTTTCCACCAGAAGAAACCACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGC
ACCTTAAGATCATCTCTACAACTAAGATGCTGTAGTTCTATCTTTGCAATGTGTCATAAATTCT
CTTCTTTTTCCCCCTTAAGTAGTATATATGTTAGGATTACCCTCTGGTAATTGATACAGATATT
GGAAAAAAGACAACATTGATGTTATTTGTGCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGT
AACACAACCATTCTGGAAATGTATCCCATAGAAGCTGATGTTTAACATATGAAAAAAAAAGTAT
TGTCTATAAAATGTTTCTTCAGTACTTTTTAAATGCTGTGTATTGGGTGTAAGGTATTTGTCAT
CTTACATTAGTAAACCCAATAAGCCAAGTTGAAGGTGGATTATAGTAAATGTACAACTGTGCTC
ACTAGGCTTCAAGTAAAAAGTTTTCCTTTCATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCC
TGCTTGAACAGGAAACAATACACAAAAGGTTGCCAACTCGCATGAGCTACCTCCCTCTTTTCAT
AAAGTATTTTTGACATATCTGTCAACCCACTTGACTGTGTGGGTGCATTGAGAACACAAAGTTT
CCTAGACACACAGGAGAAGTAGCTTAAATTCACTAATATTAATTTAAAAAGCAGCATGAACCCT
CTACTTATAAACAAGGGTTTGGTGTTTTTAAAGTGTGTATACATACATACACATACACACATGC
ACATATGTCAAATATAATTTTTTTAAAAATTGAGTGGCACATCAAAGAAATGTGAAATTAAAAA
GAATTCTTCCAAAAAGCAGCTTCCATTAAAATGGGAATTCAGTATGCACATACTGAATGCATAT
ATGTAGAACCATACAGAATTTAGGTGGATAAGGGCTAGAAATTTTGAGCAACAAAATTTGTCAC
TTGACCAGATTTTATCTTCAAAAACTGTATTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTG
CATATTATATGTATTCTGTATACTCAGTTCATAAGGTTATTTAGCACAAAGTATAGCAGCTTCA
CCTGGAGAGCTGCTTTTGCTCAGTAAATTCAACTTCCATGTTTTATCTTTTTTTGTTCAATAAA
AACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001168303 ⟹ NP_001161775

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 118,116,810 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,161,730 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,494,406 (-)	NCBI

Sequence:

show sequence

ACACCCTGGTGAGGTCAGGCGGAGGCTCTGCCGCTGCGGCCGCAGTAGCTCAGCTCCTATTCCT
GGGAAGCCTGGAACGGGGACTTTTGAAAATAACTGCAGCGGCATTCGGGTTAGGGTCCGTGCTC
TCCGCCTGCGCCAGGACAGGGTGAAGTGGTCGGGGCGAGCAGAGGGTGCGAAGGTGCGGGTGCT
GGTGCCTCGCAGCAGGAGGGAGCCCCGGCTGCGCCGCGCGACTCCCTCTTTGGCCCTCGGAGCG
CAGCACCCGGCGGACAAGCGGCGGGACGCCAGGACGCGGCGAGCAAGATCTCTCGTGGAAGAGG
AAGACCAACACATGAAATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTC
TTCCAAGGCAGGACCTACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGC
TTTGACCAGCTTCGACTTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATG
ATGCTTTCCCTGTGCATAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCAC
AGGTGGAATGAAAGAACAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTA
AGGAAAATTATTGATTTCATTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACA
CGCTGGAAGCTGCCAGTTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCAT
ATCTGGGGTCACTTTAGACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACC
GAAGTGGATAAATACGTTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGG
AGTTCTTGAAACTCCCTTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTG
TACTGAACTTGAGCTCTTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGAC
TTTGCTGCAAAATTAATGAAGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATT
ACGTGCAAACGGTGGATTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAG
CAATTACCAAATGATGCCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCT
GACACCACTCACTTGGTTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAAT
TGCGCATGTATGATGAAAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTA
CCAGCATGGCATCGCCGTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGAT
ACAAAAGGAAAAACGGCAGTTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGC
AAGTTGCATCTTTAAATGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTA
TGCAGTTGGTGGGCGAAATGCAGCAGGTGAACTGCCCACAGTAGAATGTTACAATCCAAGAACA
AATGAATGGACCTATGTTGCCAAAATGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATG
GAGGAGTGATGTATATTTCAGGAGGAATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTT
TGACCCTGATACTGACAAATGGATCCAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGC
ATGTGTACAGTGGGAGAAAGGCTCTATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATT
ATGATGATGTCCTAAGCTGTGAATACTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGC
CATGTTAAGAGGGCAGAGTGATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGG
GGGTATTCTTGGAATAATCGTTGTATGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATG
AATGGCATAAGGTTTTTGATCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGT
TTTTCCACCAGAAGAAACCACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGAT
CATCTCTACAACTAAGATGCTGTAGTTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTC
CCCCTTAAGTAGTATATATGTTAGGATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGA
CAACATTGATGTTATTTGTGCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCA
TTCTGGAAATGTATCCCATAGAAGCTGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAA
ATGTTTCTTCAGTACTTTTTAAATGCTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAG
TAAACCCAATAAGCCAAGTTGAAGGTGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTC
AAGTAAAAAGTTTTCCTTTCATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACA
GGAAACAATACACAAAAGGTTGCCAACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTT
TGACATATCTGTCAACCCACTTGACTGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACA
CAGGAGAAGTAGCTTAAATTCACTAATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAA
ACAAGGGTTTGGTGTTTTTAAAGTGTGTATACATACATACACATACACACATGCACATATGTCA
AATATAATTTTTTTAAAAATTGAGTGGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCC
AAAAAGCAGCTTCCATTAAAATGGGAATTCAGTATGCACATACTGAATGCATATATGTAGAACC
ATACAGAATTTAGGTGGATAAGGGCTAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGAT
TTTATCTTCAAAAACTGTATTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATAT
GTATTCTGTATACTCAGTTCATAAGGTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGC
TGCTTTTGCTCAGTAAATTCAACTTCCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAAT
GTCA

hide sequence

RefSeq Acc Id:

NM_001394863 ⟹ NP_001381792

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 117,973,724 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,351,295 (-)	NCBI

Sequence:

show sequence

ACTCTGTACTTCGCTGCTGCAGAAGAGAGAGTGATATTTGTGTTACTACAGCATGTTGTAAATG
TGTGAGATTTTGCTCATCTCAGCTTGGAAATAAGAATAGGGAAAGGAGAGCAACTTGAATCAGA
AGCTACTAGAAGAACCTGCAGAGTTCTGAAGCAGTTTATATTCTTCTTACATTTTGCCTTCTCC
TAGCTGGAAAGCAGAGGGACTGGAATTTTTGAAACGGGCTTTTCCCATAATGGCATTCTTGATT
TGTGTGGCCAGAGCTTGCACAGGAGGAAAGCAGGCTGCTGAATTTAGTCACTGATCTCTATTAG
CGGTAGCCTAAGGCTATGCTGAGGTTTATATCCCATTTGTATTGTTGCAGCTCAAAAGAAGATT
GTTCAGAGGATGACAAGTGTATTCTGAGTAGTACCGTGGTGACAACATGCCATTGAAATGGAAA
ACGAGCTCTCCTGCTATCTGGAAATTCCCAGTTCCTGTGCTTAAAACATCCAGGTCAACTCCAC
TTTCTCCAGCATACATATCTCTCGTGGAAGAGGAAGACCAACACATGAAATTGTCCCTTGGAGG
CAGCGAAATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGACCTACACGCATCTTTACC
AGCAATACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTCGACTTGAAGGATTGCTTT
GTGATGTGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGTGCATAGAGTCATGATGGC
ATCTGCTAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAAGAACAAGATTTAATGTGC
ATTAAACTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTGATTTCATTTATACTGCAA
AGCTTTCTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGCCAGTTTCCTACAGATTCT
GCCAGTTTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACTTTAGACAACTGTGTTGAA
GTTGGACGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAATACGTTAACAGTTTCGTCT
TGAAGAATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACTCCCTTTTGAGCGTCTTGC
CTTCGTGCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAGCTCTTTAAGGCTACCTGT
CGTTGGCTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAATTAATGAAGAACATACGAT
TTCCACTGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGTGGATTTCATGAGAACTGA
CAATACTTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATGATGCCATATATGCAGCCA
GTTATGCAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACTTGGTTACACTAGGAGGAG
TGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGATGAAAAGGCCCATGAGTG
GAAATCGTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATCGCCGTCATTGGAAATTTT
CTCTATGTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAACGGCAGTTGATACAGTCT
TCAGATTTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTTAAATGAAAAGCGCACCTT
CTTCCACCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGGCGAAATGCAGCAGGTGAA
CTGCCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCTATGTTGCCAAAATGAGTG
AGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTATATTTCAGGAGGAATTAC
TCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACTGACAAATGGATCCAGAAG
GCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGGGAGAAAGGCTCTATGTCA
TTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCTAAGCTGTGAATACTATTC
ACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGGCAGAGTGATGTTGGGGTC
GCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGAATAATCGTTGTATGGTAG
AGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGTTTTTGATCTGCCAGAATC
CCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAAGAAACCACACCATCACCT
TCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACTAAGATGCTGTAGTTCTAT
CTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGTATATATGTTAGGATTACC
CTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGATGTTATTTGTGCTCTTTGTTTG
GCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTATCCCATAGAAGCTGATGT
TTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGTACTTTTTAAATGCTGTGT
ATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAGCCAAGTTGAAGGTGGATT
ATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTTTCCTTTCATCTTTGACTG
TAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACACAAAAGGTTGCCAACTCGC
ATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTCAACCCACTTGACTGTGTG
GGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGCTTAAATTCACTAATATTA
ATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGTGTTTTTAAAGTGTGTATA
CATACATACACATACACACATGCACATATGTCAAATATAATTTTTTTAAAAATTGAGTGGCACA
TCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTCCATTAAAATGGGAATTCA
GTATGCACATACTGAATGCATATATGTAGAACCATACAGAATTTAGGTGGATAAGGGCTAGAAA
TTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAAACTGTATTCTACTCCTTC
TCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATACTCAGTTCATAAGGTTATT
TAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAGTAAATTCAACTTCCATGT
TTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001394864 ⟹ NP_001381793

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 117,973,724 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,351,295 (-)	NCBI

Sequence:

show sequence

ACTCTGTACTTCGCTGCTGCAGAAGAGAGAGTGATATTTGTGTTACTACAGCATGTTGTAAATG
TGTGAGATTTTGCTCATCTCAGCTTGGAAATAAGAATAGGGAAAGGAGAGCAACTTGAATCAGA
AGCTACTAGAAGAACCTGCAGAGTTCTGAAGCAGTTTATATTCTTCTTACATTTTGCCTTCTCC
TAGCTGGAAAGCAGAGGGACTGGAATTTTTGAAACGGGCTTTTCCCATAATGGCATTCTTGATT
TGTGTGGCCAGAGCTTGCACAGGAGGAAAGCAGGCTGCTGAATTTAGTCACTGATCTCTATTAG
CGGTAGCCTAAGGCTATGCTGAGGTTTATATCCCATTTGTATTGTTGCAGCTCAAAAGAAGATT
GTTCAGAGGATGACAAGTGTATTCTGAGTAGATCTCTCGTGGAAGAGGAAGACCAACACATGAA
ATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGACCT
ACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTCGAC
TTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGTGCA
TAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAAGAA
CAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTGATT
TCATTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGCCAG
TTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACTTTA
GACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAATACG
TTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACTCCC
TTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAGCTC
TTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAATTAA
TGAAGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGTGGA
TTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATGATG
CCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACTTGG
TTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGATGA
AAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATCGCC
GTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAACGG
CAGTTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTTAAA
TGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGGCGA
AATGCAGCAGCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCTATGTTGCCAAAA
TGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTATATTTCAGGAGG
AATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACTGACAAATGGATC
CAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGGGAGAAAGGCTCT
ATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCTAAGCTGTGAATA
CTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGGCAGAGTGATGTT
GGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGAATAATCGTTGTA
TGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGTTTTTGATCTGCC
AGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAAGAAACCACACCA
TCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACTAAGATGCTGTAG
TTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGTATATATGTTAGG
ATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGATGTTATTTGTGCTCTT
TGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTATCCCATAGAAGC
TGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGTACTTTTTAAATG
CTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAGCCAAGTTGAAGG
TGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTTTCCTTTCATCTT
TGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACACAAAAGGTTGCCA
ACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTCAACCCACTTGAC
TGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGCTTAAATTCACTA
ATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGTGTTTTTAAAGTG
TGTATACATACATACACATACACACATGCACATATGTCAAATATAATTTTTTTAAAAATTGAGT
GGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTCCATTAAAATGGG
AATTCAGTATGCACATACTGAATGCATATATGTAGAACCATACAGAATTTAGGTGGATAAGGGC
TAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAAACTGTATTCTAC
TCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATACTCAGTTCATAAG
GTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAGTAAATTCAACTT
CCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_001394866 ⟹ NP_001381795

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 118,116,810 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,494,406 (-)	NCBI

Sequence:

show sequence

ACACCCTGGTGAGGTCAGGCGGAGGCTCTGCCGCTGCGGCCGCAGTAGCTCAGCTCCTATTCCT
GGGAAGCCTGGAACGGGGACTTTTGAAAATAACTGCAGCGGCATTCGGGTTAGGGTCCGTGCTC
TCCGCCTGCGCCAGGACAGGGTGAAGTGGTCGGGGCGAGCAGAGGGTGCGAAGGTGCGGGTGCT
GGTGCCTCGCAGCAGGAGGGAGCCCCGGCTGCGCCGCGCGACTCCCTCTTTGGCCCTCGGAGCG
CAGCACCCGGCGGACAAGCGGCGGGACGCCAGGACGCGGCGAGCAAGATCTCTCGTGGAAGAGG
AAGACCAACACATGAAATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTC
TTCCAAGGCAGGACCTACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGC
TTTGACCAGCTTCGACTTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATG
ATGCTTTCCCTGTGCATAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCAC
AGGTGGAATGAAAGAACAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTA
AGGAAAATTATTGATTTCATTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACA
CGCTGGAAGCTGCCAGTTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCAT
ATCTGGGGTCACTTTAGACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACC
GAAGTGGATAAATACGTTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGG
AGTTCTTGAAACTCCCTTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTG
TACTGAACTTGAGCTCTTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGAC
TTTGCTGCAAAATTAATGAAGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATT
ACGTGCAAACGGTGGATTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAG
CAATTACCAAATGATGCCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCT
GACACCACTCACTTGGTTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAAT
TGCGCATGTATGATGAAAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTA
CCAGCATGGCATCGCCGTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGAT
ACAAAAGGAAAAACGGCAGTTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGC
AAGTTGCATCTTTAAATGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTA
TGCAGTTGGTGGGCGAAATGCAGCAGCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGG
ACCTATGTTGCCAAAATGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGA
TGTATATTTCAGGAGGAATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGA
TACTGACAAATGGATCCAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACA
GTGGGAGAAAGGCTCTATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATG
TCCTAAGCTGTGAATACTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAG
AGGGCAGAGTGATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCT
TGGAATAATCGTTGTATGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATA
AGGTTTTTGATCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACC
AGAAGAAACCACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTAC
AACTAAGATGCTGTAGTTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAG
TAGTATATATGTTAGGATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGA
TGTTATTTGTGCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAA
TGTATCCCATAGAAGCTGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTT
CAGTACTTTTTAAATGCTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAA
TAAGCCAAGTTGAAGGTGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAA
GTTTTCCTTTCATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAAT
ACACAAAAGGTTGCCAACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATC
TGTCAACCCACTTGACTGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAG
TAGCTTAAATTCACTAATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTT
TGGTGTTTTTAAAGTGTGTATACATACATACACATACACACATGCACATATGTCAAATATAATT
TTTTTAAAAATTGAGTGGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAG
CTTCCATTAAAATGGGAATTCAGTATGCACATACTGAATGCATATATGTAGAACCATACAGAAT
TTAGGTGGATAAGGGCTAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTC
AAAAACTGTATTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGT
ATACTCAGTTCATAAGGTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGC
TCAGTAAATTCAACTTCCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

RefSeq Acc Id:

NM_033495 ⟹ NP_277030

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,897,813 - 117,973,724 (-)	NCBI
GRCh37	X	117,031,776 - 117,251,303 (-)	RGD
Build 36	X	116,915,804 - 116,990,881 (-)	NCBI Archive
Celera	X	117,486,583 - 117,706,100 (-)	RGD
HuRef	X	106,526,310 - 106,745,823 (-)	ENTREZGENE
CHM1_1	X	116,942,701 - 117,018,635 (-)	NCBI
T2T-CHM13v2.0	X	116,275,375 - 116,351,295 (-)	NCBI

Sequence:

show sequence

ACTCTGTACTTCGCTGCTGCAGAAGAGAGAGTGATATTTGTGTTACTACAGCATGTTGTAAATG
TGTGAGATTTTGCTCATCTCAGCTTGGAAATAAGAATAGGGAAAGGAGAGCAACTTGAATCAGA
AGCTACTAGAAGAACCTGCAGAGTTCTGAAGCAGTTTATATTCTTCTTACATTTTGCCTTCTCC
TAGCTGGAAAGCAGAGGGACTGGAATTTTTGAAACGGGCTTTTCCCATAATGGCATTCTTGATT
TGTGTGGCCAGAGCTTGCACAGGAGGAAAGCAGGCTGCTGAATTTAGTCACTGATCTCTATTAG
CGGTAGCCTAAGGCTATGCTGAGGTTTATATCCCATTTGTATTGTTGCAGCTCAAAAGAAGATT
GTTCAGAGGATGACAAGTGTATTCTGAGTAGGTATGTTGTTGTTTCATTTTCATATGAAACCCA
TCTATGTTTTTTCTTGCTACTATTGGTCAGAAATCAGGTTAATAGGTGCAGAATATAGTACAGT
GCTGCAGTATCCCTGTTAAGGTAGAACAATGGTATTGCAAGCTTAAAAAAAAAAAGCCTGGCTG
CTTTTATTAAATAAAGCTGCATTGTATGGTATGCACAGTGCAGTCCTAAAAAAATATACTGCAG
TCAACGCTTTTCTGGCACTATTGTTGAGTTGGAATGATTGAATCATCATATTGCTTTAGGGGAC
AGAAGAATTTAAGGAGGTACCTTACAGCCCTATTTTACAGATTGGAAGCATCGGTTTAAGGGCA
CTGGCAGAATCCTTTGCTTGTTCTCCGCGGCAGCCACTGCTGTGTCAGTACAGTGTGGAATGGA
AGTCTTAGTTGGTAGTCTGTTATGGAAACGCTCTTTACTGTTATTGTAGTACCGTGGTGACAAC
ATGCCATTGAAATGGAAAACGAGCTCTCCTGCTATCTGGAAATTCCCAGTTCCTGTGCTTAAAA
CATCCAGGTCAACTCCACTTTCTCCAGCATACATATCTCTCGTGGAAGAGGAAGACCAACACAT
GAAATTGTCCCTTGGAGGCAGCGAAATGGGCCTCTCATCCCATTTGCAGTCTTCCAAGGCAGGA
CCTACACGCATCTTTACCAGCAATACCCACAGTTCTGTGGTGTTACAGGGCTTTGACCAGCTTC
GACTTGAAGGATTGCTTTGTGATGTGACCCTGATGCCAGGTGACACAGATGATGCTTTCCCTGT
GCATAGAGTCATGATGGCATCTGCTAGTGATTACTTCAAGGCTATGTTCACAGGTGGAATGAAA
GAACAAGATTTAATGTGCATTAAACTTCATGGTGTGAGCAAAGTCGGTCTAAGGAAAATTATTG
ATTTCATTTATACTGCAAAGCTTTCTCTTAATATGGACAACCTTCAAGACACGCTGGAAGCTGC
CAGTTTCCTACAGATTCTGCCAGTTTTGGACTTCTGTAAAGTGTTTCTCATATCTGGGGTCACT
TTAGACAACTGTGTTGAAGTTGGACGGATTGCCAACACCTACAATCTAACCGAAGTGGATAAAT
ACGTTAACAGTTTCGTCTTGAAGAATTTTCCTGCATTGCTGAGCACAGGGGAGTTCTTGAAACT
CCCTTTTGAGCGTCTTGCCTTCGTGCTTTCCAGTAATAGCCTTAAGCACTGTACTGAACTTGAG
CTCTTTAAGGCTACCTGTCGTTGGCTTCGCCTGGAAGAGCCTCGGATGGACTTTGCTGCAAAAT
TAATGAAGAACATACGATTTCCACTGATGACACCACAGGAGCTCATTAATTACGTGCAAACGGT
GGATTTCATGAGAACTGACAATACTTGTGTGAATTTGCTTTTGGAAGCCAGCAATTACCAAATG
ATGCCATATATGCAGCCAGTTATGCAGTCAGACAGGACTGCCATTAGGTCTGACACCACTCACT
TGGTTACACTAGGAGGAGTGCTGAGGCAGCAGCTGGTTGTCAGTAAGGAATTGCGCATGTATGA
TGAAAAGGCCCATGAGTGGAAATCGTTAGCCCCCATGGATGCCCCAAGGTACCAGCATGGCATC
GCCGTCATTGGAAATTTTCTCTATGTGGTTGGCGGACAGAGTAATTATGATACAAAAGGAAAAA
CGGCAGTTGATACAGTCTTCAGATTTGATCCTCGATACAATAAATGGATGCAAGTTGCATCTTT
AAATGAAAAGCGCACCTTCTTCCACCTAAGTGCCCTCAAAGGATATCTGTATGCAGTTGGTGGG
CGAAATGCAGCAGGTGAACTGCCCACAGTAGAATGTTACAATCCAAGAACAAATGAATGGACCT
ATGTTGCCAAAATGAGTGAGCCCCACTATGGCCATGCTGGAACTGTGTATGGAGGAGTGATGTA
TATTTCAGGAGGAATTACTCATGATACTTTCCAAAAGGAGCTCATGTGCTTTGACCCTGATACT
GACAAATGGATCCAGAAGGCGCCAATGACCACTGTCAGAGGTCTGCATTGCATGTGTACAGTGG
GAGAAAGGCTCTATGTCATTGGTGGCAATCACTTCAGAGGAACAAGTGATTATGATGATGTCCT
AAGCTGTGAATACTATTCACCTATCCTTGACCAGTGGACCCCAATTGCTGCCATGTTAAGAGGG
CAGAGTGATGTTGGGGTCGCTGTCTTCGAAAATAAAATCTATGTGGTTGGGGGGTATTCTTGGA
ATAATCGTTGTATGGTAGAGATAGTGCAGAAATATGATCCAGATAAAGATGAATGGCATAAGGT
TTTTGATCTGCCAGAATCCCTTGGTGGCATTCGTGCTTGCACACTCACAGTTTTTCCACCAGAA
GAAACCACACCATCACCTTCTAGAGAGTCCCCTCTTTCTGCACCTTAAGATCATCTCTACAACT
AAGATGCTGTAGTTCTATCTTTGCAATGTGTCATAAATTCTCTTCTTTTTCCCCCTTAAGTAGT
ATATATGTTAGGATTACCCTCTGGTAATTGATACAGATATTGGAAAAAAGACAACATTGATGTT
ATTTGTGCTCTTTGTTTGGCCTAGAATGTTTATAAAGTGGTAACACAACCATTCTGGAAATGTA
TCCCATAGAAGCTGATGTTTAACATATGAAAAAAAAAGTATTGTCTATAAAATGTTTCTTCAGT
ACTTTTTAAATGCTGTGTATTGGGTGTAAGGTATTTGTCATCTTACATTAGTAAACCCAATAAG
CCAAGTTGAAGGTGGATTATAGTAAATGTACAACTGTGCTCACTAGGCTTCAAGTAAAAAGTTT
TCCTTTCATCTTTGACTGTAAGATGTCAAAGGGAGGCAGCCTGCTTGAACAGGAAACAATACAC
AAAAGGTTGCCAACTCGCATGAGCTACCTCCCTCTTTTCATAAAGTATTTTTGACATATCTGTC
AACCCACTTGACTGTGTGGGTGCATTGAGAACACAAAGTTTCCTAGACACACAGGAGAAGTAGC
TTAAATTCACTAATATTAATTTAAAAAGCAGCATGAACCCTCTACTTATAAACAAGGGTTTGGT
GTTTTTAAAGTGTGTATACATACATACACATACACACATGCACATATGTCAAATATAATTTTTT
TAAAAATTGAGTGGCACATCAAAGAAATGTGAAATTAAAAAGAATTCTTCCAAAAAGCAGCTTC
CATTAAAATGGGAATTCAGTATGCACATACTGAATGCATATATGTAGAACCATACAGAATTTAG
GTGGATAAGGGCTAGAAATTTTGAGCAACAAAATTTGTCACTTGACCAGATTTTATCTTCAAAA
ACTGTATTCTACTCCTTCTCCTTTGCTGTTGAGGTAACTTGCATATTATATGTATTCTGTATAC
TCAGTTCATAAGGTTATTTAGCACAAAGTATAGCAGCTTCACCTGGAGAGCTGCTTTTGCTCAG
TAAATTCAACTTCCATGTTTTATCTTTTTTTGTTCAATAAAAACATTTAATGTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001161771	(Get FASTA)	NCBI Sequence Viewer
	NP_001161772	(Get FASTA)	NCBI Sequence Viewer
	NP_001161773	(Get FASTA)	NCBI Sequence Viewer
	NP_001161774	(Get FASTA)	NCBI Sequence Viewer
	NP_001161775	(Get FASTA)	NCBI Sequence Viewer
	NP_001381792	(Get FASTA)	NCBI Sequence Viewer
	NP_001381793	(Get FASTA)	NCBI Sequence Viewer
	NP_001381795	(Get FASTA)	NCBI Sequence Viewer
	NP_277030	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF03529	(Get FASTA)	NCBI Sequence Viewer
	AAH08729	(Get FASTA)	NCBI Sequence Viewer
	AAH64576	(Get FASTA)	NCBI Sequence Viewer
	BAA91514	(Get FASTA)	NCBI Sequence Viewer
	BAA92547	(Get FASTA)	NCBI Sequence Viewer
	BAG53690	(Get FASTA)	NCBI Sequence Viewer
	BAG54189	(Get FASTA)	NCBI Sequence Viewer
	BAH12315	(Get FASTA)	NCBI Sequence Viewer
	BAH12605	(Get FASTA)	NCBI Sequence Viewer
	BAH12978	(Get FASTA)	NCBI Sequence Viewer
	BAH13788	(Get FASTA)	NCBI Sequence Viewer
	BAH14880	(Get FASTA)	NCBI Sequence Viewer
	CAC41335	(Get FASTA)	NCBI Sequence Viewer
	EAW89898	(Get FASTA)	NCBI Sequence Viewer
	EAW89899	(Get FASTA)	NCBI Sequence Viewer
	EAW89900	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000262820
	ENSP00000262820.3
	ENSP00000360945
	ENSP00000360945.1
	ENSP00000360945.2
	ENSP00000360949
	ENSP00000360949.1
	ENSP00000360949.2
	ENSP00000393807.2
	ENSP00000419803
	ENSP00000419803.2
	ENSP00000441029
	ENSP00000441029.1
	ENSP00000444450
	ENSP00000444450.1
GenBank Protein	Q9P2N7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_277030 ⟸ NM_033495
- Peptide Label:	isoform a
- UniProtKB:	Q96QI7 (UniProtKB/Swiss-Prot), Q6P2E3 (UniProtKB/Swiss-Prot), D3DWH6 (UniProtKB/Swiss-Prot), B7Z802 (UniProtKB/Swiss-Prot), B7Z5P2 (UniProtKB/Swiss-Prot), B7Z3S9 (UniProtKB/Swiss-Prot), B3KWM7 (UniProtKB/Swiss-Prot), B3KV78 (UniProtKB/Swiss-Prot), Q9UDN9 (UniProtKB/Swiss-Prot), Q9P2N7 (UniProtKB/Swiss-Prot), B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYISLVEEEDQHMKLSLGGSEMGLSSHLQSSKAG PTRIFTSNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTGGMK EQDLMCIKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVT LDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELE LFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQTVDFMRTDNTCVNLLLEASNYQM MPYMQPVMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPMDAPRYQHGI AVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGG RNAAGELPTVECYNPRTNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDT DKWIQKAPMTTVRGLHCMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRG QSDVGVAVFENKIYVVGGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPE ETTPSPSRESPLSAP hide sequence

RefSeq Acc Id:	NP_001161773 ⟸ NM_001168301
- Peptide Label:	isoform d
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHLHRGELVAAILRNRSLVEEEDQHMKLSLGGSEMGLSSHLQSSKAGPTRIFTSNTHSSVVLQ GFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTGGMKEQDLMCIKLHGVSKVG LRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVTLDNCVEVGRIANTYNL TEVDKYVNSFVLKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKATCRWLRLEEPRM DFAAKLMKNIRFPLMTPQELINYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIR SDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPMDAPRYQHGIAVIGNFLYVVGGQSNY DTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGGRNAAGELPTVECYNPR TNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQKAPMTTVRGLH CMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGVAVFENKIYVV GGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPEETTPSPSRESPLSAP hide sequence

RefSeq Acc Id:	NP_001161774 ⟸ NM_001168302
- Peptide Label:	isoform d
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHLHRGELVAAILRNRSLVEEEDQHMKLSLGGSEMGLSSHLQSSKAGPTRIFTSNTHSSVVLQ GFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTGGMKEQDLMCIKLHGVSKVG LRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVTLDNCVEVGRIANTYNL TEVDKYVNSFVLKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKATCRWLRLEEPRM DFAAKLMKNIRFPLMTPQELINYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIR SDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPMDAPRYQHGIAVIGNFLYVVGGQSNY DTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGGRNAAGELPTVECYNPR TNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQKAPMTTVRGLH CMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGVAVFENKIYVV GGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPEETTPSPSRESPLSAP hide sequence

RefSeq Acc Id:	NP_001161775 ⟸ NM_001168303
- Peptide Label:	isoform e
- UniProtKB:	A0A0C4DG80 (UniProtKB/TrEMBL), B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKLSLGGSEMGLSSHLQSSKAGPTRIFTSNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFP VHRVMMASASDYFKAMFTGGMKEQDLMCIKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEA ASFLQILPVLDFCKVFLISGVTLDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLK LPFERLAFVLSSNSLKHCTELELFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQT VDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELRMY DEKAHEWKSLAPMDAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVAS LNEKRTFFHLSALKGYLYAVGGRNAAGELPTVECYNPRTNEWTYVAKMSEPHYGHAGTVYGGVM YISGGITHDTFQKELMCFDPDTDKWIQKAPMTTVRGLHCMCTVGERLYVIGGNHFRGTSDYDDV LSCEYYSPILDQWTPIAAMLRGQSDVGVAVFENKIYVVGGYSWNNRCMVEIVQKYDPDKDEWHK VFDLPESLGGIRACTLTVFPPEETTPSPSRESPLSAP hide sequence

RefSeq Acc Id:	NP_001161771 ⟸ NM_001168299
- Peptide Label:	isoform b
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MMRVQTLREKWAYWRRRQLSLKQADFKDIFKKSTSGSLVEEEDQHMKLSLGGSEMGLSSHLQSS KAGPTRIFTSNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTG GMKEQDLMCIKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLIS GVTLDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCT ELELFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQTVDFMRTDNTCVNLLLEASN YQMMPYMQPVMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPMDAPRYQ HGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYA VGGRNAAGELPTVECYNPRTNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFD PDTDKWIQKAPMTTVRGLHCMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAM LRGQSDVGVAVFENKIYVVGGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVF PPEETTPSPSRESPLSAP hide sequence

RefSeq Acc Id:	NP_001161772 ⟸ NM_001168300
- Peptide Label:	isoform c
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLRFISHLYCCSSKEDCSEDDKCILSRSLVEEEDQHMKLSLGGSEMGLSSHLQSSKAGPTRIFT SNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFKAMFTGGMKEQDLMC IKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVTLDNCVE VGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKATC RWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQP VMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELRMYDEKAHEWKSLAPMDAPRYQHGIAVIGNF LYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGGRNAAGE LPTVECYNPRTNEWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQK APMTTVRGLHCMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGV AVFENKIYVVGGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPEETTPSP SRESPLSAP hide sequence

RefSeq Acc Id:

ENSP00000444450 ⟸ ENST00000541812

RefSeq Acc Id:

ENSP00000360943 ⟸ ENST00000371876

RefSeq Acc Id:

ENSP00000360945 ⟸ ENST00000371878

RefSeq Acc Id:

ENSP00000360949 ⟸ ENST00000371882

RefSeq Acc Id:

ENSP00000440707 ⟸ ENST00000545703

RefSeq Acc Id:

ENSP00000393807 ⟸ ENST00000453826

RefSeq Acc Id:

ENSP00000419803 ⟸ ENST00000469946

RefSeq Acc Id:

ENSP00000262820 ⟸ ENST00000262820

RefSeq Acc Id:

ENSP00000441029 ⟸ ENST00000540167

RefSeq Acc Id:	NP_001381795 ⟸ NM_001394866
- Peptide Label:	isoform g
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381793 ⟸ NM_001394864
- Peptide Label:	isoform f
- UniProtKB:	B7ZB44 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001381792 ⟸ NM_001394863
- Peptide Label:	isoform a
- UniProtKB:	Q9P2N7 (UniProtKB/Swiss-Prot), Q96QI7 (UniProtKB/Swiss-Prot), Q6P2E3 (UniProtKB/Swiss-Prot), D3DWH6 (UniProtKB/Swiss-Prot), B7Z802 (UniProtKB/Swiss-Prot), B7Z5P2 (UniProtKB/Swiss-Prot), B7Z3S9 (UniProtKB/Swiss-Prot), B3KWM7 (UniProtKB/Swiss-Prot), B3KV78 (UniProtKB/Swiss-Prot), Q9UDN9 (UniProtKB/Swiss-Prot), B7ZB44 (UniProtKB/TrEMBL)

Protein Domains

BACK BTB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9P2N7-F1-model_v2	AlphaFold	Q9P2N7	1-655	view protein structure

Promoters

RGD ID:

13627922

Promoter ID:

EPDNEW_H29236

Type:

initiation region

Name:

KLHL13_2

Description:

kelch like family member 13

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29237

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	117,973,724 - 117,973,784	EPDNEW

RGD ID:

13627924

Promoter ID:

EPDNEW_H29237

Type:

initiation region

Name:

KLHL13_1

Description:

kelch like family member 13

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29236

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,116,794 - 118,116,854	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:22931	AgrOrtholog
COSMIC	KLHL13	COSMIC
Ensembl Genes	ENSG00000003096	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000262820	ENTREZGENE
	ENST00000262820.7	UniProtKB/Swiss-Prot
	ENST00000371878	ENTREZGENE
	ENST00000371878.5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000371882	ENTREZGENE
	ENST00000371882.5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000453826.1	UniProtKB/TrEMBL
	ENST00000469946	ENTREZGENE
	ENST00000469946.5	UniProtKB/Swiss-Prot
	ENST00000540167	ENTREZGENE
	ENST00000540167.6	UniProtKB/Swiss-Prot
	ENST00000541812	ENTREZGENE
	ENST00000541812.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.420	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.120.10.80	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000003096	GTEx
HGNC ID	HGNC:22931	ENTREZGENE
Human Proteome Map	KLHL13	Human Proteome Map
InterPro	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB-kelch_protein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB/POZ_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch-typ_b-propeller	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SKP1/BTB/POZ_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:90293	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	90293	ENTREZGENE
OMIM	300655	OMIM
PANTHER	KELCH-LIKE PROTEIN 13	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LD33804P	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134959204	PharmGKB
PIRSF	Kelch-like_protein_gigaxonin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF117281	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF54695	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0C4DG80	ENTREZGENE, UniProtKB/TrEMBL
	B3KV78	ENTREZGENE
	B3KWM7	ENTREZGENE
	B7Z3S9	ENTREZGENE
	B7Z5P2	ENTREZGENE
	B7Z802	ENTREZGENE
	B7ZB44	ENTREZGENE, UniProtKB/TrEMBL
	C9JTS9_HUMAN	UniProtKB/TrEMBL
	D3DWH6	ENTREZGENE
	KLH13_HUMAN	UniProtKB/Swiss-Prot
	Q6P2E3	ENTREZGENE
	Q96HC9_HUMAN	UniProtKB/TrEMBL
	Q96QI7	ENTREZGENE
	Q9P2N7	ENTREZGENE
	Q9UDN9	ENTREZGENE
UniProt Secondary	B3KV78	UniProtKB/Swiss-Prot
	B3KWM7	UniProtKB/Swiss-Prot
	B7Z3S9	UniProtKB/Swiss-Prot
	B7Z5P2	UniProtKB/Swiss-Prot
	B7Z802	UniProtKB/Swiss-Prot
	D3DWH6	UniProtKB/Swiss-Prot
	Q6P2E3	UniProtKB/Swiss-Prot
	Q96QI7	UniProtKB/Swiss-Prot
	Q9UDN9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	KLHL13	kelch like family member 13		kelch-like family member 13	Symbol and/or name change	5135510	APPROVED
2013-02-06	KLHL13	kelch-like family member 13		kelch-like 13 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar