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Gene: XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein) Homo sapiens

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Symbol:

Name:

X-linked Kx blood group antigen, Kell and VPS13A binding protein

RGD ID:

1351512

HGNC Page

HGNC:12811

Description:

Enables protein-macromolecule adaptor activity. Predicted to be involved in amino acid transport. Predicted to act upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Located in endoplasmic reticulum membrane and plasma membrane. Implicated in McLeod syndrome and hematopoietic system disease.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

endoplasmic reticulum membrane adapter protein XK; Kell blood group precursor (McLeod phenotype); kell complex 37 kDa component; KX; Kx antigen; Kx blood group antigen; MCLDS; membrane transport protein XK; NA; NAC; neuroacanthocytosis; neurocanthocytosis; truncated X-linked Kx blood group; X-linked Kx blood group; X1k; XK, Kell blood group complex subunit (McLeod syndrome); XK-related protein 1; XKR1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	37,685,791 - 37,732,130 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	37,685,791 - 37,732,130 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	37,545,044 - 37,591,383 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	37,430,052 - 37,476,322 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	37,301,324 - 37,347,594	NCBI
Celera	X	41,682,795 - 41,729,061 (+)	NCBI		Celera
Cytogenetic Map	X	p21.1	NCBI
HuRef	X	35,290,888 - 35,336,107 (+)	NCBI		HuRef
CHM1_1	X	37,576,264 - 37,622,522 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	37,089,348 - 37,135,703 (+)	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)

disease of mental health (EXP)

genetic disease (IAGP)

hematopoietic system disease (EXP,IAGP)

isolated elevated serum creatine phosphokinase levels (IAGP)

McLeod syndrome (EXP,IAGP)

movement disease (EXP)

neuroacanthocytosis (EXP)

Neurodevelopmental Disorders (IAGP)

neuromuscular disease (EXP)

ornithine carbamoyltransferase deficiency (IAGP)

peripheral nervous system disease (EXP)

primary ciliary dyskinesia (IAGP)

retinitis pigmentosa 3 (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked chronic granulomatous disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

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

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

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

3-chloropropane-1,2-diol (ISO)

4,4'-diaminodiphenylmethane (ISO)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

alpha-Zearalanol (ISO)

amiodarone (EXP)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

avobenzone (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

cantharidin (ISO)

CGP 52608 (EXP)

choline (ISO)

cobalt dichloride (EXP)

cyclosporin A (EXP)

diazinon (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

folic acid (ISO)

gentamycin (ISO)

glutathione (ISO)

L-methionine (ISO)

methylmercury chloride (EXP)

oxaliplatin (ISO)

ozone (ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenylmercury acetate (EXP)

pirinixic acid (EXP)

rotenone (ISO)

SB 431542 (EXP)

serpentine asbestos (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

temozolomide (EXP)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichostatin A (EXP)

triclosan (EXP)

triphenyl phosphate (EXP)

tunicamycin (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amino acid transport (IEA)

intracellular calcium ion homeostasis (IEA,ISO)

intracellular magnesium ion homeostasis (IEA,ISO)

myelination (IEA,ISO)

regulation of axon diameter (IEA,ISO)

regulation of cell size (IEA,ISO)

skeletal muscle fiber development (IEA,ISO)

Cellular Component

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IDA,IEA)

membrane (IEA,TAS)

plasma membrane (IDA,IEA,ISS,TAS)

Molecular Function

protein binding (IPI)

protein-macromolecule adaptor activity (IMP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Absent Achilles reflex (IAGP)

Acanthocytosis (IAGP)

Adult onset (IAGP)

Anxiety (IAGP)

Areflexia of upper limbs (IAGP)

Atrial fibrillation (IAGP)

Autism (IAGP)

Cardiomyopathy (IAGP)

Chorea (IAGP)

Compulsive behaviors (IAGP)

Depression (IAGP)

Dilated cardiomyopathy (IAGP)

Dysarthria (IAGP)

Dyskinesia (IAGP)

Dystonia (IAGP)

Elevated circulating alanine aminotransferase concentration (IAGP)

Elevated circulating aspartate aminotransferase concentration (IAGP)

Elevated circulating creatine kinase concentration (IAGP)

Elevated gamma-glutamyltransferase level (IAGP)

Generalized-onset seizure (IAGP)

Hepatomegaly (IAGP)

Impaired vibration sensation at ankles (IAGP)

Increased circulating lactate dehydrogenase concentration (IAGP)

Motor axonal neuropathy (IAGP)

Muscle weakness (IAGP)

Myopathy (IAGP)

Personality disorder (IAGP)

Reduced haptoglobin level (IAGP)

Rhabdomyolysis (IAGP)

Seizure (IAGP)

Splenomegaly (IAGP)

X-linked inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.	Ho M, etal., Cell 1994 Jun 17;77(6):869-80.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:871435	PMID:1191546	PMID:3358422	PMID:7737196	PMID:8619554	PMID:9074432	PMID:9593744	PMID:9647734	PMID:9784384	PMID:10426139	PMID:10556484	PMID:10849386
PMID:11261514	PMID:11703337	PMID:11761473	PMID:11961232	PMID:12477932	PMID:12775719	PMID:12823753	PMID:15107016	PMID:15489334	PMID:17081983	PMID:17302777	PMID:17379193
PMID:17469188	PMID:19322201	PMID:19380743	PMID:20301334	PMID:20301528	PMID:21145924	PMID:21463873	PMID:21988832	PMID:24635891	PMID:24816235	PMID:26308465	PMID:32845802
PMID:33961781	PMID:35583604	PMID:35994651	PMID:39324427

Genomics

Comparative Map Data

XK
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	37,685,791 - 37,732,130 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	37,685,791 - 37,732,130 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	37,545,044 - 37,591,383 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	37,430,052 - 37,476,322 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	37,301,324 - 37,347,594	NCBI
Celera	X	41,682,795 - 41,729,061 (+)	NCBI		Celera
Cytogenetic Map	X	p21.1	NCBI
HuRef	X	35,290,888 - 35,336,107 (+)	NCBI		HuRef
CHM1_1	X	37,576,264 - 37,622,522 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	37,089,348 - 37,135,703 (+)	NCBI		T2T-CHM13v2.0

Xk
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	9,139,023 - 9,179,484 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	9,138,995 - 9,179,489 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	9,272,784 - 9,313,245 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	9,272,756 - 9,313,250 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	8,849,910 - 8,890,371 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	8,429,873 - 8,468,132 (+)	NCBI		MGSCv36	mm8
Celera	X	7,012,285 - 7,052,336 (+)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI
cM Map	X	4.22	NCBI

Xk
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	16,108,913 - 16,145,322 (-)	NCBI		GRCr8
mRatBN7.2	X	13,436,412 - 13,472,830 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	13,436,418 - 13,472,830 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	13,623,720 - 13,660,104 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	17,120,655 - 17,157,035 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	13,377,235 - 13,413,615 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	14,497,376 - 14,534,479 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	14,498,119 - 14,534,473 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	15,278,669 - 15,315,169 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	25,591,152 - 25,624,913 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	25,644,621 - 25,678,382 (-)	NCBI
Celera	X	13,951,523 - 13,985,552 (+)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Xk
(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_004955587	668,070 - 728,959 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955587	668,871 - 725,829 (+)	NCBI	ChiLan1.0	ChiLan1.0

XK
(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	39,334,500 - 39,381,063 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	39,337,936 - 39,384,437 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	30,136,046 - 30,182,541 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	37,846,539 - 37,892,348 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	37,846,539 - 37,892,348 (+)	Ensembl	panpan1.1		panPan2

XK
(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	32,453,404 - 32,498,145 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	32,453,570 - 32,495,110 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	19,801,126 - 19,845,752 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	32,491,214 - 32,543,437 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	32,491,295 - 32,540,402 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	32,578,961 - 32,624,840 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	32,544,040 - 32,588,642 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	32,592,018 - 32,636,881 (+)	NCBI		UU_Cfam_GSD_1.0

Xk
(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	24,691,389 - 24,745,510 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936502	4,532,100 - 4,587,439 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936502	4,532,100 - 4,584,931 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

XK
(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	33,544,731 - 33,602,574 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	33,544,287 - 33,602,576 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	37,205,690 - 37,263,628 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

XK
(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_023666056	38,148,973 - 38,193,937 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Xk
(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_004624762	17,856,731 - 17,914,938 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624762	17,856,746 - 17,915,975 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in XK
78 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_021083.4(XK):c.508+1G>A	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV000010418]	ChrX:37694549 [GRCh38] ChrX:37553802 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.509-1G>A	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV000010419]	ChrX:37727635 [GRCh38] ChrX:37586888 [GRCh37] ChrX:Xp21.1	pathogenic
XK, 1-BP DEL	deletion	McLeod neuroacanthocytosis syndrome [RCV000010420]	ChrX:Xp21.2-p21.1	pathogenic
NM_021083.4(XK):c.1013del (p.Phe338fs)	deletion	McLeod neuroacanthocytosis syndrome [RCV000010421]	ChrX:37728137 [GRCh38] ChrX:37587390 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.880T>C (p.Cys294Arg)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV000010422]	ChrX:37728007 [GRCh38] ChrX:37587260 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.938_951del (p.Asn313fs)	deletion	McLeod neuroacanthocytosis syndrome [RCV000010423]	ChrX:37728063..37728076 [GRCh38] ChrX:37587316..37587329 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.941G>A (p.Trp314Ter)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV000010424]	ChrX:37728068 [GRCh38] ChrX:37587321 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.895C>T (p.Gln299Ter)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV000010425]	ChrX:37728022 [GRCh38] ChrX:37587275 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.2(XK):c.245+750A>T	single nucleotide variant	Lung cancer [RCV000102588]	ChrX:37686956 [GRCh38] ChrX:37546209 [GRCh37] ChrX:Xp21.1	uncertain significance
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)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: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:10679-156022206)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 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 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	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: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: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: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 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	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 Xp22.11-11.4(chrX:22420237-38834728)x1	copy number loss	See cases [RCV000053063]	ChrX:22420237..38834728 [GRCh38] ChrX:22438354..38693981 [GRCh37] ChrX:22348275..38578925 [NCBI36] ChrX:Xp22.11-11.4	pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0	copy number loss	See cases [RCV000053080]	ChrX:31665506..37921988 [GRCh38] ChrX:31683623..37781241 [GRCh37] ChrX:31593544..37666185 [NCBI36] ChrX:Xp21.1-11.4	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-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	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
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
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 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	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)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: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: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 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: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 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	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 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 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 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	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 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	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 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 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 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp21.1-11.4(chrX:37723259-38263335)x2	copy number gain	See cases [RCV000136935]	ChrX:37723259..38263335 [GRCh38] ChrX:37669767..38122588 [GRCh37] ChrX:37467451..38007532 [NCBI36] ChrX:Xp21.1-11.4	uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:37564515-37871920)x2	copy number gain	See cases [RCV000137210]	ChrX:37564515..37871920 [GRCh38] ChrX:37308687..37616117 [NCBI36] ChrX:Xp21.1-11.4	benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3	copy number gain	See cases [RCV000138078]	ChrX:28234352..37850186 [GRCh38] ChrX:28252469..37709439 [GRCh37] ChrX:28162390..37594383 [NCBI36] ChrX:Xp21.3-11.4	likely pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	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 Xp21.1(chrX:37581547-37703226)x2	copy number gain	See cases [RCV000138242]	ChrX:37581547..37703226 [GRCh38] ChrX:37325721..37447418 [NCBI36] ChrX:Xp21.1	uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	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 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
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 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	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 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	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 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	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 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 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 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 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	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 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3	copy number gain	See cases [RCV000143685]	ChrX:28218244..37855706 [GRCh38] ChrX:28236361..37714959 [GRCh37] ChrX:28146282..37599903 [NCBI36] ChrX:Xp21.3-11.4	uncertain significance
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 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [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:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [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 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:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [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 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	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 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	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 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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	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 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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1	copy number loss	See cases [RCV000446005]	ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3	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 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	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 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2	copy number gain	See cases [RCV000510479]	ChrX:37584811..38467647 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
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 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	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 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	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 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_021083.4(XK):c.1015A>T (p.Lys339Ter)	single nucleotide variant	Inborn genetic diseases [RCV000622910]	ChrX:37728142 [GRCh38] ChrX:37587395 [GRCh37] ChrX:Xp21.1	pathogenic\|likely pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	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 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
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NC_000023.11:g.37685675C>T	single nucleotide variant	not provided [RCV001679947]	ChrX:37685675 [GRCh38] ChrX:37544928 [GRCh37] ChrX:Xp21.1	benign
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	copy number loss	not provided [RCV001007291]	ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
NM_021083.4(XK):c.765C>T (p.Leu255=)	single nucleotide variant	not provided [RCV000927427]	ChrX:37727892 [GRCh38] ChrX:37587145 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.450C>G (p.Pro150=)	single nucleotide variant	not provided [RCV000923625]	ChrX:37694490 [GRCh38] ChrX:37553743 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.1108T>G (p.Tyr370Asp)	single nucleotide variant	not provided [RCV000861539]	ChrX:37728235 [GRCh38] ChrX:37587488 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.492C>T (p.Asp164=)	single nucleotide variant	not provided [RCV000918238]	ChrX:37694532 [GRCh38] ChrX:37553785 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.417G>T (p.Ala139=)	single nucleotide variant	not provided [RCV000921105]	ChrX:37694457 [GRCh38] ChrX:37553710 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.617T>C (p.Leu206Pro)	single nucleotide variant	not provided [RCV000982740]	ChrX:37727744 [GRCh38] ChrX:37586997 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.150C>T (p.Leu50=)	single nucleotide variant	not provided [RCV000860843]	ChrX:37686111 [GRCh38] ChrX:37545364 [GRCh37] ChrX:Xp21.1	benign
GRCh37/hg19 Xp21.1(chrX:37448237-37568108)x3	copy number gain	not provided [RCV000849168]	ChrX:37448237..37568108 [GRCh37] ChrX:Xp21.1	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 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp21.1(chrX:37448237-37563710)x2	copy number gain	not provided [RCV000846285]	ChrX:37448237..37563710 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.412C>T (p.Arg138Trp)	single nucleotide variant	Inborn genetic diseases [RCV004963296]\|not provided [RCV001245691]	ChrX:37694452 [GRCh38] ChrX:37553705 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	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_021083.4(XK):c.856_860del (p.Leu286fs)	deletion	not provided [RCV003239273]	ChrX:37727981..37727985 [GRCh38] ChrX:37587234..37587238 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.771G>A (p.Trp257Ter)	single nucleotide variant	Elevated circulating creatine kinase concentration [RCV003127219]	ChrX:37727898 [GRCh38] ChrX:37587151 [GRCh37] ChrX:Xp21.1	likely pathogenic
NM_021083.4(XK):c.1221G>A (p.Pro407=)	single nucleotide variant	not provided [RCV000861202]	ChrX:37728348 [GRCh38] ChrX:37587601 [GRCh37] ChrX:Xp21.1	benign\|likely benign
NM_021083.4(XK):c.508+5G>A	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV001731241]	ChrX:37694553 [GRCh38] ChrX:37553806 [GRCh37] ChrX:Xp21.1	pathogenic\|not provided
GRCh37/hg19 Xp21.1-11.4(chrX:37472901-38023139)x2	copy number gain	not provided [RCV002473495]	ChrX:37472901..38023139 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
Single allele	deletion	Retinitis pigmentosa 3 [RCV001251576]	ChrX:35820200..38547007 [GRCh37] ChrX:Xp21.1-11.4	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
NM_021083.4(XK):c.*89A>T	single nucleotide variant	not provided [RCV001691862]	ChrX:37728551 [GRCh38] ChrX:37587804 [GRCh37] ChrX:Xp21.1	benign
GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2	copy number gain	not provided [RCV001007295]	ChrX:37472900..37879310 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del	deletion	Ornithine carbamoyltransferase deficiency [RCV001033914]	ChrX:30326313..41000684 [GRCh37] ChrX:Xp21.2-11.4	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37550041-37645092)	copy number loss	Granulomatous disease, chronic, X-linked [RCV002280606]	ChrX:37550041..37645092 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	copy number gain	not provided [RCV001258967]	ChrX:37487291..38568933 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
GRCh37/hg19 Xp21.1(chrX:37221175-37549799)x3	copy number gain	not provided [RCV001258966]	ChrX:37221175..37549799 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NC_000023.10:g.(?_37545209)_(38186626_?)dup	duplication	Primary ciliary dyskinesia [RCV001364735]	ChrX:37545209..38186626 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
NM_021083.4(XK):c.554T>C (p.Leu185Ser)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV002499746]\|not provided [RCV001366839]	ChrX:37727681 [GRCh38] ChrX:37586934 [GRCh37] ChrX:Xp21.1	uncertain significance
NC_000023.10:g.(?_37545215)_(38280335_?)del	deletion	Ornithine carbamoyltransferase deficiency [RCV001390917]\|Primary ciliary dyskinesia [RCV004579576]	ChrX:37545215..38280335 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
NM_021083.4(XK):c.979G>A (p.Glu327Lys)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV001731243]	ChrX:37728106 [GRCh38] ChrX:37587359 [GRCh37] ChrX:Xp21.1	pathogenic\|not provided
NM_021083.4(XK):c.664C>T (p.Arg222Ter)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV001730037]\|not provided [RCV003326586]	ChrX:37727791 [GRCh38] ChrX:37587044 [GRCh37] ChrX:Xp21.1	pathogenic\|likely pathogenic
NM_021083.4(XK):c.664C>G (p.Arg222Gly)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV001731242]\|not provided [RCV002539802]	ChrX:37727791 [GRCh38] ChrX:37587044 [GRCh37] ChrX:Xp21.1	pathogenic\|uncertain significance\|not provided
NM_021083.4(XK):c.343T>C (p.Ser115Pro)	single nucleotide variant	not provided [RCV001764765]	ChrX:37694383 [GRCh38] ChrX:37553636 [GRCh37] ChrX:Xp21.1	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 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	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 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37434962-37882707)x3	copy number gain	not provided [RCV001827967]	ChrX:37434962..37882707 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3	copy number gain	not provided [RCV001825261]	ChrX:37526649..37554684 [GRCh37] ChrX:Xp21.1	not provided
NM_021083.4(XK):c.731A>G (p.Asn244Ser)	single nucleotide variant	not provided [RCV001905175]	ChrX:37727858 [GRCh38] ChrX:37587111 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.57G>C (p.Thr19=)	single nucleotide variant	not provided [RCV002207926]	ChrX:37686018 [GRCh38] ChrX:37545271 [GRCh37] ChrX:Xp21.1	benign
NC_000023.10:g.(?_37545215)_(37670170_?)del	deletion	Granulomatous disease, chronic, X-linked [RCV003111162]	ChrX:37545215..37670170 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
NC_000023.10:g.(?_37545215)_(37664441_?)del	deletion	Granulomatous disease, chronic, X-linked [RCV003111163]	ChrX:37545215..37664441 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
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 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	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
NM_021083.4(XK):c.176A>G (p.His59Arg)	single nucleotide variant	not provided [RCV002299353]	ChrX:37686137 [GRCh38] ChrX:37545390 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.800T>C (p.Ile267Thr)	single nucleotide variant	Inborn genetic diseases [RCV002858888]	ChrX:37727927 [GRCh38] ChrX:37587180 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.204C>T (p.Leu68=)	single nucleotide variant	not provided [RCV002991688]	ChrX:37686165 [GRCh38] ChrX:37545418 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.657T>C (p.Ile219=)	single nucleotide variant	not provided [RCV003015130]	ChrX:37727784 [GRCh38] ChrX:37587037 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.353T>C (p.Ile118Thr)	single nucleotide variant	Inborn genetic diseases [RCV002818088]	ChrX:37694393 [GRCh38] ChrX:37553646 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.228A>G (p.Gln76=)	single nucleotide variant	not provided [RCV002591631]	ChrX:37686189 [GRCh38] ChrX:37545442 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.171C>G (p.Phe57Leu)	single nucleotide variant	not provided [RCV003018885]	ChrX:37686132 [GRCh38] ChrX:37545385 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1332T>C (p.Ala444=)	single nucleotide variant	not provided [RCV002885879]	ChrX:37728459 [GRCh38] ChrX:37587712 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.1215T>C (p.Cys405=)	single nucleotide variant	not provided [RCV003022780]	ChrX:37728342 [GRCh38] ChrX:37587595 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.108G>T (p.Trp36Cys)	single nucleotide variant	not provided [RCV003006170]\|not specified [RCV004526217]	ChrX:37686069 [GRCh38] ChrX:37545322 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.732C>T (p.Asn244=)	single nucleotide variant	not provided [RCV002626929]	ChrX:37727859 [GRCh38] ChrX:37587112 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.1099C>T (p.Leu367Phe)	single nucleotide variant	Inborn genetic diseases [RCV002669091]	ChrX:37728226 [GRCh38] ChrX:37587479 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.723A>G (p.Ile241Met)	single nucleotide variant	not provided [RCV003030529]	ChrX:37727850 [GRCh38] ChrX:37587103 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.205G>T (p.Val69Leu)	single nucleotide variant	not provided [RCV002715034]	ChrX:37686166 [GRCh38] ChrX:37545419 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1243T>G (p.Ser415Ala)	single nucleotide variant	Inborn genetic diseases [RCV002588623]\|not provided [RCV002588622]	ChrX:37728370 [GRCh38] ChrX:37587623 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.417G>A (p.Ala139=)	single nucleotide variant	not provided [RCV002653511]	ChrX:37694457 [GRCh38] ChrX:37553710 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.71T>A (p.Leu24Gln)	single nucleotide variant	not provided [RCV003073077]	ChrX:37686032 [GRCh38] ChrX:37545285 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1019C>A (p.Thr340Asn)	single nucleotide variant	not provided [RCV003050835]	ChrX:37728146 [GRCh38] ChrX:37587399 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.100C>G (p.Arg34Gly)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139370]	ChrX:37686061 [GRCh38] ChrX:37545314 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.85C>G (p.Arg29Gly)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139371]	ChrX:37686046 [GRCh38] ChrX:37545299 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.200C>T (p.Pro67Leu)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139372]	ChrX:37686161 [GRCh38] ChrX:37545414 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.335A>G (p.Asn112Ser)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139373]	ChrX:37694375 [GRCh38] ChrX:37553628 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.794A>G (p.Glu265Gly)	single nucleotide variant	Inborn genetic diseases [RCV004676183]\|McLeod neuroacanthocytosis syndrome [RCV003139374]	ChrX:37727921 [GRCh38] ChrX:37587174 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.404C>T (p.Ala135Val)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139375]	ChrX:37694444 [GRCh38] ChrX:37553697 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)	single nucleotide variant	McLeod neuroacanthocytosis syndrome [RCV003139376]	ChrX:37728347 [GRCh38] ChrX:37587600 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.297T>A (p.Pro99=)	single nucleotide variant	not provided [RCV003873113]	ChrX:37694337 [GRCh38] ChrX:37553590 [GRCh37] ChrX:Xp21.1	likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	copy number loss	not provided [RCV003483418]	ChrX:24633854..44236178 [GRCh37] ChrX:Xp22.11-11.3	pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	copy number loss	not provided [RCV003483920]	ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22	pathogenic
NM_021083.4(XK):c.1007A>G (p.Tyr336Cys)	single nucleotide variant	not provided [RCV003438060]	ChrX:37728134 [GRCh38] ChrX:37587387 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.420G>A (p.Ser140=)	single nucleotide variant	not provided [RCV003739107]	ChrX:37694460 [GRCh38] ChrX:37553713 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.246-8G>C	single nucleotide variant	not provided [RCV003832374]	ChrX:37694278 [GRCh38] ChrX:37553531 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.613C>T (p.Pro205Ser)	single nucleotide variant	not provided [RCV003667038]	ChrX:37727740 [GRCh38] ChrX:37586993 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1190G>A (p.Trp397Ter)	single nucleotide variant	not provided [RCV003701046]	ChrX:37728317 [GRCh38] ChrX:37587570 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.405G>A (p.Ala135=)	single nucleotide variant	not provided [RCV003725410]	ChrX:37694445 [GRCh38] ChrX:37553698 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.765C>G (p.Leu255=)	single nucleotide variant	not provided [RCV003725418]	ChrX:37727892 [GRCh38] ChrX:37587145 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.243C>G (p.Phe81Leu)	single nucleotide variant	not provided [RCV003541999]	ChrX:37686204 [GRCh38] ChrX:37545457 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.705C>A (p.Thr235=)	single nucleotide variant	not provided [RCV003848179]	ChrX:37727832 [GRCh38] ChrX:37587085 [GRCh37] ChrX:Xp21.1	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	copy number loss	not specified [RCV003986212]	ChrX:33027159..39840641 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_021083.4(XK):c.1308G>A (p.Leu436=)	single nucleotide variant	not provided [RCV003722773]	ChrX:37728435 [GRCh38] ChrX:37587688 [GRCh37] ChrX:Xp21.1	benign
NM_021083.4(XK):c.303C>T (p.Val101=)	single nucleotide variant	not provided [RCV003841201]	ChrX:37694343 [GRCh38] ChrX:37553596 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.105G>A (p.Met35Ile)	single nucleotide variant	Inborn genetic diseases [RCV004485502]	ChrX:37686066 [GRCh38] ChrX:37545319 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.274C>T (p.Gln92Ter)	single nucleotide variant	XK-related disorder [RCV003901938]	ChrX:37694314 [GRCh38] ChrX:37553567 [GRCh37] ChrX:Xp21.1	likely pathogenic
NM_021083.4(XK):c.177C>G (p.His59Gln)	single nucleotide variant	Inborn genetic diseases [RCV004485503]	ChrX:37686138 [GRCh38] ChrX:37545391 [GRCh37] ChrX:Xp21.1	uncertain significance
Single allele	deletion	McLeod neuroacanthocytosis syndrome [RCV004547438]	ChrX:31884229..37871972 [GRCh38] ChrX:Xp21.1-11.4	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_021083.4(XK):c.671T>C (p.Val224Ala)	single nucleotide variant	Inborn genetic diseases [RCV004688815]	ChrX:37727798 [GRCh38] ChrX:37587051 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.874A>T (p.Met292Leu)	single nucleotide variant	Inborn genetic diseases [RCV004688816]	ChrX:37728001 [GRCh38] ChrX:37587254 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.962A>G (p.Tyr321Cys)	single nucleotide variant	not provided [RCV004779677]	ChrX:37728089 [GRCh38] ChrX:37587342 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.662C>T (p.Thr221Ile)	single nucleotide variant	not provided [RCV004778893]	ChrX:37727789 [GRCh38] ChrX:37587042 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.210G>C (p.Leu70=)	single nucleotide variant	XK-related disorder [RCV004757783]	ChrX:37686171 [GRCh38] ChrX:37545424 [GRCh37] ChrX:Xp21.1	likely benign
NM_021083.4(XK):c.397C>T (p.Arg133Ter)	single nucleotide variant	not provided [RCV004719432]	ChrX:37694437 [GRCh38] ChrX:37553690 [GRCh37] ChrX:Xp21.1	pathogenic
NM_021083.4(XK):c.651T>G (p.Phe217Leu)	single nucleotide variant	Inborn genetic diseases [RCV004967550]	ChrX:37727778 [GRCh38] ChrX:37587031 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1265C>T (p.Thr422Ile)	single nucleotide variant	Inborn genetic diseases [RCV004967551]	ChrX:37728392 [GRCh38] ChrX:37587645 [GRCh37] ChrX:Xp21.1	uncertain significance
NM_021083.4(XK):c.1321C>T (p.Leu441Phe)	single nucleotide variant	Inborn genetic diseases [RCV004967552]	ChrX:37728448 [GRCh38] ChrX:37587701 [GRCh37] ChrX:Xp21.1	uncertain significance
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1	copy number loss	not provided [RCV004819405]	ChrX:15392463..48777470 [GRCh37] ChrX:Xp22.2-11.23	pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1284
Count of miRNA genes:	801
Interacting mature miRNAs:	920
Transcripts:	ENST00000378616
Prediction methods:	Miranda
Result types:	miRGate_prediction

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

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

Markers in Region

SHGC-82907

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,562,296 - 37,562,578	UniSTS	GRCh37
Build 36	X	37,447,235 - 37,447,517	RGD	NCBI36
Celera	X	41,699,974 - 41,700,256	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,307,257 - 35,307,539	UniSTS
TNG Radiation Hybrid Map	X	9898.0	UniSTS

GDB:373292

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,553,368 - 37,553,992	UniSTS	GRCh37
Build 36	X	37,438,307 - 37,438,931	RGD	NCBI36
Celera	X	41,691,046 - 41,691,670	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,298,677 - 35,299,301	UniSTS

GDB:373297

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,586,758 - 37,587,974	UniSTS	GRCh37
Build 36	X	37,471,697 - 37,472,913	RGD	NCBI36
Celera	X	41,724,436 - 41,725,652	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,331,482 - 35,332,698	UniSTS

DXS6997E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,591,240 - 37,591,312	UniSTS	GRCh37
Build 36	X	37,476,179 - 37,476,251	RGD	NCBI36
Celera	X	41,728,918 - 41,728,990	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,335,964 - 35,336,036	UniSTS
GeneMap99-GB4 RH Map	X	112.31	UniSTS

XK__4911

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,590,596 - 37,591,511	UniSTS	GRCh37
Build 36	X	37,475,535 - 37,476,450	RGD	NCBI36
Celera	X	41,728,274 - 41,729,189	RGD
HuRef	X	35,335,320 - 35,336,235	UniSTS

GDB:373289

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	37,545,203 - 37,545,633	UniSTS	GRCh37
Celera	X	41,682,865 - 41,683,295	UniSTS
Cytogenetic Map	X	p21.1	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1198	2433	2788	2242	4937	1706	2315	4	608	1670	449	2240	6974	6189	46	3717	1	812	1733	1599	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_007473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB214532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC233292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC233297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY534238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY655133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY655134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY655135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ062746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FB659844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KM821167	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY926705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY939773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC543982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LT838807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LT838808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MH727540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MH727541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MH729875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MH730936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MK071977	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MZ322308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OK086973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z32684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000378616 ⟹ ENSP00000367879

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	37,685,791 - 37,732,130 (+)	Ensembl

RefSeq Acc Id:

NM_021083 ⟹ NP_066569

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	37,685,791 - 37,732,130 (+)	NCBI
GRCh37	X	37,545,133 - 37,591,383 (+)	ENTREZGENE
Build 36	X	37,430,052 - 37,476,322 (+)	NCBI Archive
HuRef	X	35,290,888 - 35,336,107 (+)	ENTREZGENE
CHM1_1	X	37,576,264 - 37,622,522 (+)	NCBI
T2T-CHM13v2.0	X	37,089,348 - 37,135,703 (+)	NCBI

Sequence:

show sequence

AGAGCCCAGGCCGGTCGGCCGGGCCCGCGTGCCCTCGGCGGGCTGCGCAGAGCGCGGGAGCGGT
TTGGGGCTGGGCATGCTGGGAGCCCCTCGGGCAACGGCCGCCGCCGCCACAGCCACACAGCCGC
CGCCACTGCGTCCGTCCCCGGTGAGCGCCGCTGACGCGCGGAGATGAAATTCCCGGCCTCGGTG
CTGGCGTCCGTGTTCCTGTTCGTGGCCGAGACAACGGCGGCGCTCAGCCTGAGCAGCACCTACC
GCTCGGGCGGGGACCGCATGTGGCAGGCGCTGACGTTGCTTTTCTCGCTACTGCCTTGCGCGCT
CGTGCAGCTCACGCTTCTCTTCGTACACCGCGACCTCAGCCGCGACCGCCCGCTCGTACTGCTG
CTGCACCTGCTGCAACTTGGGCCCCTTTTCAGGTGTTTTGAAGTCTTCTGCATCTACTTTCAGT
CAGGCAACAATGAAGAGCCTTATGTCAGTATCACCAAGAAGAGGCAAATGCCAAAAAATGGCCT
CTCAGAGGAGATTGAGAAGGAGGTGGGCCAGGCAGAAGGCAAACTAATCACCCACCGATCAGCG
TTCAGCCGGGCGTCGGTGATCCAGGCTTTCTTGGGCTCAGCCCCCCAGCTGACCCTACAGCTGT
ACATAAGTGTCATGCAGCAGGACGTCACTGTTGGAAGAAGTCTCCTCATGACCATATCCCTGTT
GTCCATTGTGTATGGAGCCTTGCGCTGCAACATCCTAGCCATCAAAATCAAGTACGATGAGTAT
GAAGTCAAAGTGAAGCCTCTGGCCTATGTCTGTATCTTCCTGTGGAGGAGCTTTGAGATTGCCA
CTCGAGTTGTAGTCCTGGTCCTCTTTACCTCCGTCCTGAAGACCTGGGTGGTGGTTATAATACT
CATCAACTTCTTCAGTTTCTTCTTGTACCCCTGGATCCTCTTCTGGTGCAGTGGTTCCCCATTC
CCTGAGAACATAGAGAAGGCCCTCAGTAGAGTGGGCACCACCATTGTACTATGCTTTCTAACTT
TACTCTATACTGGTATCAACATGTTCTGCTGGTCTGCTGTACAGCTGAAAATTGACAGCCCTGA
CCTCATCAGCAAGTCCCATAATTGGTACCAGCTACTGGTGTATTACATGATAAGATTCATCGAG
AATGCCATCCTCCTCCTCCTGTGGTATCTTTTCAAGACTGACATCTATATGTATGTGTGCGCAC
CTCTGTTGGTCCTGCAGCTGCTCATTGGGTACTGCACAGCCATTCTCTTCATGCTTGTATTCTA
TCAGTTCTTCCACCCTTGCAAAAAGCTCTTTTCTTCCAGTGTTTCTGAAGGCTTTCAGAGGTGG
CTCAGGTGTTTTTGCTGGGCCTGCAGGCAGCAAAAACCCTGTGAGCCGATAGGAAAGGAAGATC
TACAGTCATCCAGAGATAGAGATGAGACACCTTCTAGCAGTAAAACAAGTCCTGAGCCTGGTCA
GTTCTTGAATGCTGAAGATCTCTGCTCTGCTTAATGGGACCCAAGGTCTCAGAGCACAGGCATA
TTATTTTCTGGGTTTGATACTCGTTATTCATACAAATAATGAGCCCTACACAGGGAACAAGGCA
GGAAGTTAGCTGTTAACTCCTTGTGAGCTGCTTCTCTTTATAGAGCTCTTGGGTATGTAGAACT
GTATGGGAAGAAGCCAGGAAAACCTCTGAGTGTTGAAGGGGCAACCCAAGGCATCACAGTTCAC
AGGTAACCATGTTGTGTTCTTCTAGGCATTACTGGCCTTTTCACTGACAAGTTACCCCTGAAAT
CTGAGTTGTACTGGTTAGATTCATTAGGTTGAATGAGGAGAGGGGCTTACCTGTTCTCTAGTTT
TCCAGACTGCTGGTTTGGGTAACCTGAAGTTTTATGATCCCTGAACATAGTTTTCACCCAAGAG
CTGTCCTGGTGACCAAAAAAGATTACTAGGGTTTTGCCATCAGCAACATCATTCCTGTCAGAGC
TTTCAGGGAGGGCTGTTCAAGTTTGGTTTTTGAATAGACAGAGGTTTCATTTTCATCTCATTAG
GGCTTTTTTGTACATAGCCAACTGTAGCCACCCTGGCATGCTGTCTCTAATTGATTCAAGGGCC
TAGATTTGGAGACTTTGTTCCTTAGCATCCATGGATGCAGAAATGAGTGATAAATTTGGCCATG
AAAGCCCTGGAATTTTAGGAAAGTTGTGATTCTTTGATATGTTGATGAAATTCTGGATCAGGAG
GGGTGTTAAAACATCAAAATGATGGCGACTTGTATAAGTAGAATTCTTACCATCTTACTCCTGC
CTCCCCATTCCTTGCCTGTCAGGACCATTTTAGAAGAGTTACCTTGGTTAACTTAAGGGTTTTT
TAGAAAACCCCACAGAAATCTCTCACCCAGTTCAGGTGTATAGGGAATTTTCATTTTCATTATT
TCAAGGAATAGAGTTTTCCTCACTACCACTTGTAATTAGAGATTGACTTCAGAAACTTTTTCTA
AATTATAAAGACGGAATGACCAGAAAATTTTTGTCTTTCATGGAATGCAATTTGACTTGGCATA
ATTGTGAGTTAATTTGATAAAGATCTCCAGTTGTATCCTCTGACACCCTTTAATGTTCTATATA
ATTTTTCCTTTAATCGGAGACCCTATTTGTTTCATTAAAGAGGATTGGGTAGCATATCCTCAAT
TATCTTGGAAAAATGCGTAGATCTAGTGCCATTATTTCTACCATTAAAATCTTGAAAGCGAAAT
ACTTGAAAAGAGGTGACCATAAAGATCACACCAATTTAGAATGAATATTAAAGTCTGAGAAATT
TACAAAAGGGACTCTATGGACTCGATTTTACCATATGGAATAGGGATCCACTTCTCTGTTAACC
TACAAAACGTATTTATCTGGCCATTGCACTTCGGATAATTTTCATTTTTAATTCCTCTTGGTGT
CAAATTTTTAAGTAATTTCATGCACACAGGAGAAAATGCAATTTGATAATCAGTTTCCACTACA
TTCGGAGGTCAAGAAAGCAGTATATATTCTTTCACAAGGCATCCATACTGTTTAATATTTATAG
AGTTCATAGAAATACATCAATAAGCTCCTAAATTATAGAGCCTCAATTTTGGTTTTTCTCATTT
GAAATGTTTTTGATTTATCAATATTTGTGGTTTAACTTTGTGGGGGTGTCCAGGCAGTAGATCA
TTTTTTGTCTATTTTTAACCAAATAAGAATAACACTCAAGACTATGTTCTCCATCCCAACACAT
CACTTACCACTTGCACTATTCTTAATAGGCCTAAAATAGTGAGCATATATAATCAAAATAATAC
TTCATACAACATATACTTCCATGCACTCTTCATGTAATCACATATGTGCATAGATACACAATCG
TATTACATAAAACACCCTTGAAAATATATGACTTTGAATAAAATAAAGCTACCATGTTAATACA
TCATTTTTTGTTTCTTCCTAATTAACAAAAGGGCTCTATAATGATTAGGAGAGCTGTAAGGCCA
TTCTTTAGTCATTCCAAGTGTATATTTGTATCACACCAGTTACTTGTGTTCATTGACACCAAAT
ATTTTCAAGCTTTTTGTGAGAAAGAGATTCTTGCCTTGAGGCTCTGCAGTGGCAAATGGTAGGG
GCAATAGCGCTCCCTTTTCACCTGAAATGCCTTCAGCTCAGGCCTTGGGAGTGAGGTGTGGGAG
TAGCCACCAGCCTCCCACTGACTAGGCATGTTAGGAATTAGACAAGGATGGAGAGACTGGTTTT
TTCCAGCCTTGGTTTGGAAGCTTGTCTCAAAAACCATTACAAAATCTTAACCTTCAAATACATT
CTAAATCACTTTAATTTAGAAGATAGGTGAGCAACTTGAGTGATCCCAAACCAAACTAACAGTG
CTGGTTTGTCCGACACCCAAAGCCCACTTCACACATTTATAAGGACAGAGATTTGGTAACTCAT
TTGGGTATTTTGTCAGTTTTAACCCTTAATATACAGGTATCCCAGCTTTGGGCACATGTATGTC
CATTCACTTTCAGGAAGGGGTGTCAGTACTTTCTTTCTGTGTGGTGAAAACATAAGCCATGGTG
AACTGATAATTTTTGTTTTTAAATTATTTATATTACTGAATTGGCAAAATTACAGTTCACACTG
CAGAGCTAGGTTGTCCTATTGGCATAAAACAAACCAGCAACTTTTCTCATGTGTTTGGAGTTAA
AATGTGTTTTTCAGTTATAATTTCAATTTTTAAATTTCTTGGTGCTTTGTCTAATTAATTACAT
CCCATAACTTGTCAGGATAGTTGCTCCAACTGAATTGCTATCATTTGGCTGGATGGGGGTGAAG
TATGTCTTCAAAATATATTGAAGTAAGTTCATCAAACATGTTTAGACTTCCTCTCATTGCTGGA
GACAGCCCAGTGTAGAGATTGGCACTTCCCTGTCCAGCACTACAACTTAATTGCTCTATGCCTC
AGTTTCCCCATAATACCCTTTTCCAACCTACCTCACAAGGTTATCAGAAAGATCAAATTAAATA
ATAGATGTGAAAATGCTTTGAAAATGTTTTTAAGTGCTATGCATATTTATAGAGTTATTATAGT
TATTCAAATCCATAAGCAGGTTATTTTTATTTTTTTACTGTTTGAAAAGAAATAAGTAGTGTCA
TTCATATGAGTTCCTGAGTGGATATGCGAATCTTTGGTCTTCTCGACAGGTGCCCTTTCTCTTA
CCACTAGTTGCTTACAAAAATAGCACCCAAACACATGGCACTTGGAAGAAAAAGACCCACTGAA
TCTGAGAAAGTACTTTCTGGTGGCAAATGAATTTATCATTTTAGTATAGTTTTCGATAAAGGAT
ATAGCAACATCTTTTGATAATTGTGCTTTACAACTTGAATGCTGATTCAAGGCATTATTTGGAT
GTGAGTTTAATCTTTTCAGCCTTGTAAATGGGAAAATATATATTAAAATTGATTGTCAAATACA
GCATTTCTTTGGAAACCACCTTAAAACATTAGTGCTATGGTTATGAGTGTATGTGCCAGTACTT
ACCAGTCAATGCATTGTGGATATGAGCTTTCGTTGACTGCTTCTCTGCAGTCGTTGATGCTAAT
AAATATTGTCCTGTTTCTTCATATAATAAATTAATTTTTCAATTTCTCCTTGTA

hide sequence

RefSeq Acc Id:

XM_011543978 ⟹ XP_011542280

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	37,685,791 - 37,704,307 (+)	NCBI

Sequence:

show sequence

GCAGGCGGCGCACGGAGCGCGTGGGCGTGTCCCGGCGGGGCTGCGCAGCTCGCCCCACCCCACC
CCACCCCAGCCAGGTCGGCCGCCCCCACCAGGTCCAGTTCCAGAGCCCAGGCCGGTCGGCCGGG
CCCGCGTGCCCTCGGCGGGCTGCGCAGAGCGCGGGAGCGGTTTGGGGCTGGGCATGCTGGGAGC
CCCTCGGGCAACGGCCGCCGCCGCCACAGCCACACAGCCGCCGCCACTGCGTCCGTCCCCGGTG
AGCGCCGCTGACGCGCGGAGATGAAATTCCCGGCCTCGGTGCTGGCGTCCGTGTTCCTGTTCGT
GGCCGAGACAACGGCGGCGCTCAGCCTGAGCAGCACCTACCGCTCGGGCGGGGACCGCATGTGG
CAGGCGCTGACGTTGCTTTTCTCGCTACTGCCTTGCGCGCTCGTGCAGCTCACGCTTCTCTTCG
TACACCGCGACCTCAGCCGCGACCGCCCGCTCGTACTGCTGCTGCACCTGCTGCAACTTGGGCC
CCTTTTCAGGTGTTTTGAAGTCTTCTGCATCTACTTTCAGTCAGGCAACAATGAAGAGCCTTAT
GTCAGTATCACCAAGAAGAGGCAAATGCCAAAAAATGGCCTCTCAGAGGAGATTGAGAAGGAGG
TGGGCCAGGCAGAAGGCAAACTAATCACCCACCGATCAGCGTTCAGCCGGGCGTCGGTGATCCA
GGCTTTCTTGGGCTCAGCCCCCCAGCTGACCCTACAGCTGTACATAAGTGTCATGCAGCAGGAC
GTCACTGTTGGAAGAAACCCTGTGCTGGTCTCTGAGGATAAAGTGGTGAATAAGGTAGGCAGGC
CCCAATCATCTTCAAATAGGATATATAAACATCACACAAATTATTAATCAAATGCATATTTTAT
TTAAGGTAAATCCTGCAAAGTGAAAGATAAGTAGCCTCTCTGAGGGTATATTGGGGGTTGTCTA
ACCGAGTCTGGGAAATGAGGCAAATGTTTCCAAAACTTAGATTTAAACTGAAAACTGCTAGATG
AAGAAAAGAAGCCAGGTGAAGAAAAATCAGGAAAGAGCATCCCAGGATTTCAAGCTTTATTCCA
GAGGCAATGGGAAGGCACTGATGAGTTTTAAGCAACAAGTGTCATGATCAAATTTAGTTTTAGA
AACTGATTACTCTGCAAAATGTATTTGAAGAGAGTGAAGAAACAAATGGAGAGGCTAGGAAGTG
GGCTACTATAGTTGTCAAGGTGAGAATAATGGCCTGGACTGGAATAGTCAGAGTGGATTATTGG
AGCAATATTAAGAATGCGTAAGTGGAACAATGTGATGATTGATTGGATATGAAGGTGAGGCAGT
GAGAGATGTCAAGAATAATTCCCAGTTCCTGATATGGACTGCTGTAGCCATGGATCTCCATTTG
TCTTGGTAGTGACAGGTTTGCGAGGTATATTTTACTTTCAGTTCCAGACTTAAAGAAATGAATA
CATTTTAAAGATTCTATTTAACTCATGAGAGAACAAGCAGATGTTCTCTTCGGACCAGCTTATA
AGATAACCCAAAGGACAGACATAGGAATATTGACTAGAGATATCAAAATGAATATGTAAATGGA
AGTAAAACTGGTTTTATTACAGCATGGGGGGGTGACATTTGAACCTCTACTGTACAAGACATTG
AGCATGTCTGTTAGTGACTTATAGCTTACAGAAGAATGTAAATGAGCTCACTGGCAATACAAAG
CTAGAATCAGAGAACCTGGATTGGTATACTGAAGACAGGACAATGTTTTGATTGAAACACATTT
TTTTTGTTGTTGCTAGAATGTTTAAGTCAAGTACAAAGTTAGACTTTCCTCAAAAAGACGGTCC
AGTTATTAGGGTGAGCAGGTTCCTGTCAGAAACATTTTGAGGCCGGGCTTGATCAGGGCTCAGT
GAACACCAATAATATCACAAAGTTGAGGTTGTCTTGAAGGCAGCTCCCTGACCAAGGAGGGCCT
GGAGCACAGTGGGCGGGAATAAGCACTGGTACCTGGAGAGGCTCAGGCTAGTGGGAAAATCGAC
GAGGGCTGATCAAAACAAAACTCACCAAGACCATGTGAAGGCAAAAAGGAGCCTTAGAAAGGAG
ATTCTTCCCTGCTCCACAAAAGCCTAGCTGCAGTTTCCTGTTAGCCACATGGACGGCTTTCTGC
GAGGTCAGTATGCCCAGTGCCTGAGCTCATCCACACCTGTTTTCCTGGTTGTTATTCTCTAGTA
TCTGATGGCCAACATCCTGGAGCAGGCAGGCAAGAAGGCCCAGAACAATTGCAGGGTGCGCATC
ACACCAGAACACATAGAGAGGGCCATGCACAAGGATAAGCAGCTCAGATGCCTCTTGGAGGATG
TACCCACCATCAGGTTGATGAGGTGCCCCAGCCCGAGAAGGAGGGATGCTTGGGTCTGAGAACC
TGGCAGGACTTCATCAACAATTTCATCCAGCCTCAAAAATTCCCATAGATGAGAGACCCCAGGC
TGCTGCCATCAGCCCATGCTATTAAAGTCTTTAATGACAGTGCCCCTGACTTCTCTCAGGTTCT
CTCATTTTGGGTTGGAGGTGTCCTTGAGACATCCAGGAGAAGCTATCCCATAGAGAGCTGAATG
GGTGGAAGGTGTTGCCAGTGTGGGGTGTTTGAATCAGTGATTTTAGAAGGGGCAGTTTCCAGTG
GTTGGTGAGAGCACTGGCCCTGGCGGGAGGAGCTGACTGGGGATAAAGATATAGAGACTTCCTC
ATTGGCTTTGAACTGGAAGGCCTTGTGAGGCCAGGTAGTTGCTGGGAGCCTCCTAGGCTTGATA
AATTCCTAACCTGATGCTGGGACCTAGGGTGGAGCTGCAGACTCTGACTGAGGTGCGGGAGGCT
TTATTCAGAATAGCAAAGGTCTGAAGTCAGAGGGCAGTAGCCACAGGGATGGGTGGAGAGGGGG
CACACTGCATACTAGCTGGCATGAACTTCATGGGACAGGCTTTACATGGAGATTGAGGAGTGAT
GGGGAAAACATAAGGAAAAAATGCAAAAAAAAAAGTTATGGTCATGTTATTTTATTTATTTATT
TGTACCCTGCCTCATTCCAAAAGAGGACTTGAGACAGGGATTAGTAACTGGTACTATGACACAT
TGTTTGGAATATATTCTTCTGTCCTCTTGTGGACACTGTTAAATTAAGTAGTAACATTATATAA
AAGCTCTCTGGCCTAGGACATGCAATCCAATCAGTTCTTAATGGTTACAAAATATTACAAAACT
TATTTGTAAATGTATTCCATTATAAACACAATTATCAATCGCATTCCCAGAAAAAATAATCTGT
GTATGATCATGTATTTCATAGAACAGCATAGAGTTATCAATGGCCAAAAACAGGTTCAAAAGGT
ATAGAAATAACCTATGTAATTCTGTCTTGAGTGATGGCCTCTAAAGCATGTACTGTACTTTTAA
AAACTTGTGCTCTGTACTGTTTAAAAAAGGTGTCACATCAAGTGTTGTAGCAATCTGTCCCCTT
GCCTGTGAATGTCCATATTTTAGGTTTTCACCTGTTCCTTGGATCCTCTGTGGCCACATTCTGC
TGCCTGTTGGCCAGATGCTGCCCAGCCAGATTCAATAACAGATCAGACAACCTGGGTTTGAGAT
CCTAGTTCACCACTTTCTGGCCATGTGATCTTGGACTTTCATTTACTCCTGCTGGGCAGGTTTG
CTCATGTGTAAAATAGCAGAGAGTCCCTCTATCTTTAGTTTTCCCAAAGATTGAGTCCACTTTG
GATATGCACAGTGTGGCCCTTAATAAGCAGCTGCATCTGTCTCCTCCCCTAACCCCAGACACGC
AGGCAGGCTTCCCCAGGGTACATCTGGGTCTGGTTCTCAGGTTACTGTTGGGCACTTGGGCCAC
TGGCTGTGAGAGTGACATCCTGCTGAGCCCTATGGAGAGACAGGAGAGTGCCCAGCAGAGGAAG
GAGACAGCGGAAGAGGGACACGAGCCAGGCAGTCCCCACTCTGGTGTCCCTTTTTCTCCTCCTG
CCTTGTGACTCGCCCTCTCTCTGCCTCTGTCTAAGCAGAAGGACCCAGCTTGGCCTTTGGCTAA
TTCACAGGAGTGTCCTGAGAATGAAGGAAATAGCGGTTATGTGTTTAAAAACTGGGCTGTGAGA
AACCCATGTCCTGGACACAAAGATGTTTCACTTCGGCCAGGGGAGGGGGTGCTGCTGTTGCCAT
GAAGTGATGAGCTGAAGGAGACTCCCCACCTGAAGCTGCTGGAGAGAGGCCTGCTTGCAGCTCA
AATGCACAGAAGAGGAAGCGAGCAGCTGGGCTAAGGCTGGGAGTGCTCCACGGCGCTCCCTAAG
GAATCATGCAGTGGTGGGGTGGGCAGCTTGACAATGAGGTGCCTGGAAATATGAGGTTCAGTGG
ACATGATATGGCAAGAAAGACTTCTGGGATTTAGACAAGCACATCTTCCACATGGCCCTAAGGA
CAACCCTGACAGTACTAATCTCTAATATATTATTTCCTAAAGCGCAGTCTACAAAGTGGCATCT
TACAACTCAATCTGGATGGCAGATAGGTTTGCTAGTTCTAAGCAGACATCTTAAAAGAAAATTA
ATGAGCTGGTAGCATTTGAAAATCAATAACATTTTACCTGAAAGTCTGGATTTCTGGCTCTCTT
GAGAAGTAAAAAGGAGGGTACACATGATTACAGTCACATAGAGATGACTAGCTACTGCACCATG
AAGACTGGGCCTCTGGTTTGCCACATTCCTTCCACACTCTTCCCTATAAAGTCCCATATCTGAT
TCACTTCATTAATTTATAGTAGTTGTCTGATTAATAGAGATACTTGAGTTTGTTACTCTCACTA
CAAGTTAATTCTAAGTTCACAGTACTCAGAACAATCAATCTCATTTAATGAAGTAGTATATTGT
GCATTGCTTCTCAAAATATCATTGGGGTAGGACCAGTAGTAGCAAACTTCCTTGTTTTTCTTGT
TCCAGTAAATTGTGAACTGATATGTGGTTGTATTACTAGTATGCCACTCATATTTGACTTGTCA
TTTGAGTTTAACAACTGCACTGGTATATACCTTGTTCAAAAAGTGAGCCCACTAATTTAAATGT
TGTGGCTAAATCAGATGCTATACAGATTCCTAAATGCCAGCTCTCAATGTCCATACTTATCATA
ACTGACTGGTAACAGATATTTCATTGTACCAGTCCTCAAACTTTTTAGATTTAGATTTAGATTT
TAAATCTAATGAAAAGCAGTAAACAGGACCTACAGTTGGTATTGTTTCTCCTTCAGAGTCTTCA
TGAAAACAGATTTATCCTTCTTATATTTAGGACTTTAGCATAATACTGGTGAAAATGTTGCTGA
ACTACTTCTGTTAAAGCAAAAGATATTAAGGAAACCAATTAGCATCAGTGGGGCATGTTAGATG
CGGCAGATGTGAGATTGTTGAGTTCTGAAATGTAGGATAAAAAGAATTCACCAAGGCAACTGTG
AAAGGGAGTCTTCATGAAAGGAGAGGCAGAACTGGGTTCTGGTCTCCTACAGTGTAGTTTACTT
GGGGACCCATCAGTTTCCAGTGAGAAAAATGGAAAAATTATTTCAAAACTCAGCTAGAGATGTG
TACTTATGACTGTGCTCTTTTCCTAACAAAATAGTTCTATGGAAAATGGGTAAATAGGGTTCAG
AGTACAGGGTCTCCATTTTACAGCTGAGGCCACTGAGGCCCAGTGATAGTAATCAGCTCTTATA
AAGTCACATGGTGAGTGGGCAGCACAGTAGAATGATGGCCTGGCCTTCCTTACCTGTTATTGGG
GCTCTTTCCTCTATTGTATCCTGAAAAAGGGGTCTCAAAAGAGAAAGTGTTTAATGTTCTCCTC
TGAGAAAAAGAAGCTAAAGTCTTCAATACCAAGGTGTTAGGGTCTCTTGGATTTCTTGGGAAGC
ACTCAATAACTCACTCCCAAGAATATTCACTTGTGCTTTATTTGGGTAAGGCCAGACAGGTCAG
GAGAAAAGTGCTGATTTTATAGTATAGGTCTTTGGACTTTGCAAACTTAGATTTTGTTCCACTG
GACATTGTATTAAACTGTGTTATGAACACAAATTTGTCTCAGTTAAGGTGTTCTGGAAATTCTG
ACTCTGTCCACTAACCATTATCTTAAATGTGGTGATGTGATGTCATGAGAAGCCTGTGTTCAGG
AGCCTAGTCTTTGAAGTACCTGAGGTAGTGACGTTTTTCATGGTGCTCTAAGACAATCCTTCTT
TGCTGAAGACAAAATCTCCCTCCTGTAGCTGATTGTAGGGTCATTAGGGAAACATCAGTGTAAA
TAAAAAACTATCTGGAGAGCCAGGCATGCTGGCTCATGCCTGTAATCCCAGCAACTTAGAAGGT
TGAGGCAAG

hide sequence

RefSeq Acc Id:

XM_054327716 ⟹ XP_054183691

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	37,089,348 - 37,107,880 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_066569	(Get FASTA)	NCBI Sequence Viewer
	XP_011542280	(Get FASTA)	NCBI Sequence Viewer
	XP_054183691	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36019	(Get FASTA)	NCBI Sequence Viewer
	AAT07087	(Get FASTA)	NCBI Sequence Viewer
	AAY43132	(Get FASTA)	NCBI Sequence Viewer
	AIY23069	(Get FASTA)	NCBI Sequence Viewer
	ASL68253	(Get FASTA)	NCBI Sequence Viewer
	AVQ67587	(Get FASTA)	NCBI Sequence Viewer
	AXN77383	(Get FASTA)	NCBI Sequence Viewer
	BAE48708	(Get FASTA)	NCBI Sequence Viewer
	BCD69305	(Get FASTA)	NCBI Sequence Viewer
	CAA83632	(Get FASTA)	NCBI Sequence Viewer
	CAS01776	(Get FASTA)	NCBI Sequence Viewer
	EAW59454	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000367879
	ENSP00000367879.3
GenBank Protein	P51811	(Get FASTA)	NCBI Sequence Viewer
	QCF46624	(Get FASTA)	NCBI Sequence Viewer
	UHH90935	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_066569 ⟸ NM_021083

- UniProtKB:

Q8IUK6 (UniProtKB/Swiss-Prot), Q4TTN6 (UniProtKB/Swiss-Prot), Q9UC77 (UniProtKB/Swiss-Prot), P51811 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSR
DRPLVLLLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGK
LITHRSAFSRASVIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSIVYGALRCNILAI
KIKYDEYEVKVKPLAYVCIFLWRSFEIATRVVVLVLFTSVLKTWVVVIILINFFSFFLYPWILF
WCSGSPFPENIEKALSRVGTTIVLCFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVY
YMIRFIENAILLLLWYLFKTDIYMYVCAPLLVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSV
SEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRDETPSSSKTSPEPGQFLNAEDLCSA

hide sequence

RefSeq Acc Id:

XP_011542280 ⟸ XM_011543978

- Peptide Label:

isoform X1

- Sequence:

show sequence

MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHRDLSR
DRPLVLLLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEKEVGQAEGK
LITHRSAFSRASVIQAFLGSAPQLTLQLYISVMQQDVTVGRNPVLVSEDKVVNKVGRPQSSSNR
IYKHHTNY

hide sequence

Ensembl Acc Id:

ENSP00000367879 ⟸ ENST00000378616

RefSeq Acc Id:	XP_054183691 ⟸ XM_054327716
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P51811-F1-model_v2	AlphaFold	P51811	1-444	view protein structure

Promoters

RGD ID:

6809411

Promoter ID:

HG_KWN:66410

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000080875

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	37,429,626 - 37,430,142 (+)	MPROMDB

RGD ID:

13605020

Promoter ID:

EPDNEW_H28694

Type:

initiation region

Name:

XK_1

Description:

X-linked Kx blood group

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28695

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	37,685,791 - 37,685,851	EPDNEW

RGD ID:

13605022

Promoter ID:

EPDNEW_H28695

Type:

multiple initiation site

Name:

XK_2

Description:

X-linked Kx blood group

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28694

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	37,731,707 - 37,731,767	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12811	AgrOrtholog
COSMIC	XK	COSMIC
Ensembl Genes	ENSG00000047597	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000378616	ENTREZGENE
	ENST00000378616.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000047597	GTEx
HGNC ID	HGNC:12811	ENTREZGENE
Human Proteome Map	XK	Human Proteome Map
InterPro	XK-rel	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	XK-related_adapter	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7504	UniProtKB/Swiss-Prot
NCBI Gene	7504	ENTREZGENE
OMIM	314850	OMIM
PANTHER	MEMBRANE TRANSPORT PROTEIN XK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MEMBRANE TRANSPORT PROTEIN XK FAMILY MEMBER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	XK-related	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37410	PharmGKB
UniProt	A0A0A1E0F2_HUMAN	UniProtKB/TrEMBL
	A0A221C5P1_HUMAN	UniProtKB/TrEMBL
	A0A2R3WH08_HUMAN	UniProtKB/TrEMBL
	A0A346FY29_HUMAN	UniProtKB/TrEMBL
	A0A8D5B3W7_HUMAN	UniProtKB/TrEMBL
	P51811	ENTREZGENE
	Q2Z218_HUMAN	UniProtKB/TrEMBL
	Q4TTN6	ENTREZGENE
	Q8IUK6	ENTREZGENE
	Q9UC77	ENTREZGENE
	XK_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q4TTN6	UniProtKB/Swiss-Prot
	Q8IUK6	UniProtKB/Swiss-Prot
	Q9UC77	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-07-18	XK	X-linked Kx blood group antigen, Kell and VPS13A binding protein	XK	X-linked Kx blood group	Symbol and/or name change	19259463	PROVISIONAL
2014-06-24	XK	X-linked Kx blood group	XK	X-linked Kx blood group (McLeod syndrome)	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 Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar