NXT2 (nuclear transport factor 2 like export factor 2)

Gene: NXT2 (nuclear transport factor 2 like export factor 2) Homo sapiens

Analyze

Symbol:

NXT2

Name:

nuclear transport factor 2 like export factor 2

RGD ID:

1350653

HGNC Page

HGNC:18151

Description:

Predicted to be involved in poly(A)+ mRNA export from nucleus. Located in cytosol; nuclear RNA export factor complex; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

NTF2-related export protein 2; nuclear transport factor 2-like export factor 2; P15-2

RGD Orthologs

Alliance Genes

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	109,535,824 - 109,544,698 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	109,535,781 - 109,544,698 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	108,779,053 - 108,787,927 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	108,665,666 - 108,674,569 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	108,585,154 - 108,594,058	NCBI
Celera	X	109,258,641 - 109,267,544 (+)	NCBI		Celera
Cytogenetic Map	X	q23	NCBI
HuRef	X	98,400,726 - 98,409,609 (+)	NCBI		HuRef
CHM1_1	X	108,690,275 - 108,699,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	107,983,286 - 107,992,160 (+)	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)

Charcot-Marie-Tooth disease type X (IAGP)

genetic disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

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

3-methylcholanthrene (EXP)

5-aza-2'-deoxycytidine (EXP)

5-azacytidine (EXP)

acetamide (ISO)

acrylamide (EXP,ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-phellandrene (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium sulfate (EXP)

CGP 52608 (EXP)

copper atom (EXP)

copper(0) (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

dicrotophos (EXP)

disulfiram (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

ethanol (ISO)

fenthion (ISO)

flutamide (ISO)

folic acid (ISO)

glafenine (ISO)

hydrogen peroxide (EXP)

isoprenaline (ISO)

methylisothiazolinone (EXP)

methylmercury chloride (EXP)

oxaliplatin (ISO)

paracetamol (ISO)

phenobarbital (ISO)

piroxicam (EXP)

propiconazole (ISO)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

tetrachloromethane (ISO)

topotecan (ISO)

trichostatin A (EXP)

valproic acid (EXP)

versicolorin A (EXP)

vorinostat (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mRNA export from nucleus (ISS)

mRNA transport (IEA)

nucleocytoplasmic transport (IEA)

poly(A)+ mRNA export from nucleus (IBA,IEA)

protein transport (IEA)

Cellular Component

cytoplasm (IEA)

cytosol (IDA)

nuclear pore central transport channel (IBA,IEA)

nuclear RNA export factor complex (IPI,ISS)

nucleoplasm (IDA)

nucleus (IEA,ISS)

perinuclear region of cytoplasm (IEA,ISS)

Molecular Function

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

mRNA decay pathway (IEA)

ribosome biogenesis 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.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11042152	PMID:11073998	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15772651	PMID:16189514	PMID:16344560	PMID:19322201	PMID:21516116	PMID:21832049	PMID:21873635
PMID:23602568	PMID:24104479	PMID:25416956	PMID:25814554	PMID:26496610	PMID:28514442	PMID:31515488	PMID:32296183	PMID:33883167	PMID:33961781	PMID:35271311	PMID:36244648

Genomics

Comparative Map Data

NXT2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	109,535,824 - 109,544,698 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	109,535,781 - 109,544,698 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	108,779,053 - 108,787,927 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	108,665,666 - 108,674,569 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	108,585,154 - 108,594,058	NCBI
Celera	X	109,258,641 - 109,267,544 (+)	NCBI		Celera
Cytogenetic Map	X	q23	NCBI
HuRef	X	98,400,726 - 98,409,609 (+)	NCBI		HuRef
CHM1_1	X	108,690,275 - 108,699,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	107,983,286 - 107,992,160 (+)	NCBI		T2T-CHM13v2.0

Nxt2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	141,009,766 - 141,022,696 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	141,009,766 - 141,022,688 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	142,226,770 - 142,239,700 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	142,226,770 - 142,239,692 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	138,662,480 - 138,674,235 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	137,474,575 - 137,486,055 (+)	NCBI		MGSCv36	mm8
Celera	X	126,222,947 - 126,234,769 (+)	NCBI		Celera
Cytogenetic Map	X	F2	NCBI
cM Map	X	63.02	NCBI

Nxt2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	110,652,434 - 110,659,738 (+)	NCBI		GRCr8
mRatBN7.2	X	105,855,616 - 105,862,902 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	105,855,608 - 105,862,899 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	107,994,481 - 108,000,688 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	111,493,652 - 111,499,855 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	109,057,920 - 109,064,108 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	113,509,841 - 113,517,112 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	113,510,621 - 113,517,102 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	111,959,782 - 111,967,057 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	36,312,609 - 36,318,816 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	105,271,932 - 105,278,139 (+)	NCBI		Celera
Cytogenetic Map	X	q33	NCBI

Nxt2
(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_004955490	6,276,756 - 6,283,808 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955490	6,276,791 - 6,283,768 (-)	NCBI	ChiLan1.0	ChiLan1.0

NXT2
(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	109,025,795 - 109,034,744 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	109,029,399 - 109,036,636 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	98,642,894 - 98,651,778 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	109,113,261 - 109,122,181 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	109,113,261 - 109,122,181 (+)	Ensembl	panpan1.1		panPan2

NXT2
(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	82,787,663 - 82,794,575 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	82,787,277 - 82,792,803 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	68,866,208 - 68,873,122 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	84,438,088 - 84,445,002 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	84,438,086 - 84,444,992 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	81,914,714 - 81,921,624 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	83,609,433 - 83,616,347 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	83,437,840 - 83,444,750 (+)	NCBI		UU_Cfam_GSD_1.0

Nxt2
(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	82,045,742 - 82,053,589 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936499	5,603,805 - 5,611,029 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936499	5,604,376 - 5,610,972 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NXT2
(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	89,684,671 - 89,691,805 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	89,684,733 - 89,691,808 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	105,299,657 - 105,306,795 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NXT2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	97,392,745 - 97,402,005 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	97,393,112 - 97,401,998 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	22,587,751 - 22,595,891 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nxt2
(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_004624803	6,438,312 - 6,444,641 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624803	6,438,312 - 6,445,306 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NXT2
3 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 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 Xq21.1-23(chrX:77544283-110500317)x1	copy number loss	See cases [RCV000051668]	ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23	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: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 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 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: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 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
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 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 Xq23(chrX:109505229-110588158)x3	copy number gain	See cases [RCV000136581]	ChrX:109505229..110588158 [GRCh38] ChrX:108748458..109831386 [GRCh37] ChrX:108635114..109718042 [NCBI36] ChrX:Xq23	uncertain significance
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 Xq22.1-23(chrX:100597687-111651116)x4	copy number gain	See cases [RCV000136029]	ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23	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 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 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: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-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 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 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 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 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 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 Xq21.32-23(chrX:93591590-112530092)x3	copy number gain	See cases [RCV000139204]	ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23	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-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 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
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:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [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:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [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:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-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 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
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-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: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 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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [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 Xq22.3-23(chrX:107370001-110989043)x1	copy number loss	See cases [RCV000447004]	ChrX:107370001..110989043 [GRCh37] ChrX:Xq22.3-23	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 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 Xq22.2-23(chrX:103158718-111556067)x2	copy number gain	See cases [RCV000448592]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	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 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	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 Xq21.31-23(chrX:86776682-114054291)x1	copy number loss	See cases [RCV000511514]	ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23	pathogenic\|uncertain significance
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 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	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 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	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: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
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 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	copy number loss	not provided [RCV001007332]	ChrX:105973323..110619655 [GRCh37] ChrX:Xq22.3-23	likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	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 Xp11.21-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)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0	copy number loss	not provided [RCV001537894]	ChrX:108168780..109606201 [GRCh37] ChrX:Xq22.3-23	pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	copy number loss	Xq21.32q23 deletion [RCV001579312]	ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23	pathogenic
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 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	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 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	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 Xq22.3-23(chrX:104782507-112949573)x2	copy number gain	not provided [RCV001795543]	ChrX:104782507..112949573 [GRCh37] ChrX:Xq22.3-23	likely pathogenic
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 Xq22.1-24(chrX:101982475-116885339)	copy number gain	not specified [RCV002053166]	ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xq23(chrX:108739103-109292915)	copy number gain	not specified [RCV002053173]	ChrX:108739103..109292915 [GRCh37] ChrX:Xq23	uncertain significance
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 Xq22.2-23(chrX:103158718-111556067)	copy number gain	not specified [RCV002053170]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
NC_000023.10:g.(?_106046084)_(108868249_?)del	deletion	Charcot-Marie-Tooth Neuropathy X [RCV003122615]	ChrX:106046084..108868249 [GRCh37] ChrX:Xq22.3-23	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-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [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 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	pathogenic
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_018698.5(NXT2):c.58A>T (p.Ser20Cys)	single nucleotide variant	Inborn genetic diseases [RCV002748796]	ChrX:109535940 [GRCh38] ChrX:108779169 [GRCh37] ChrX:Xq23	uncertain significance
NM_001242617.2(NXT2):c.-62A>C	single nucleotide variant	Inborn genetic diseases [RCV002940359]	ChrX:109536945 [GRCh38] ChrX:108780174 [GRCh37] ChrX:Xq23	uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	pathogenic
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_018698.5(NXT2):c.43G>C (p.Gly15Arg)	single nucleotide variant	not provided [RCV003432356]	ChrX:109535925 [GRCh38] ChrX:108779154 [GRCh37] ChrX:Xq23	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:	2630
Count of miRNA genes:	813
Interacting mature miRNAs:	950
Transcripts:	ENST00000218004, ENST00000372103, ENST00000372106, ENST00000372107
Prediction methods:	Miranda, Pita, Pita,Targetscan, 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

RH11287

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	108,787,686 - 108,787,843	UniSTS	GRCh37
Build 36	X	108,674,342 - 108,674,499	RGD	NCBI36
Celera	X	109,267,317 - 109,267,474	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	98,409,368 - 98,409,525	UniSTS
GeneMap99-GB4 RH Map	X	292.97	UniSTS
NCBI RH Map	X	561.2	UniSTS

A004W13

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	108,787,726 - 108,787,858	UniSTS	GRCh37
Build 36	X	108,674,382 - 108,674,514	RGD	NCBI36
Celera	X	109,267,357 - 109,267,489	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	98,409,408 - 98,409,540	UniSTS
GeneMap99-GB4 RH Map	X	287.52	UniSTS
Whitehead-RH Map	X	268.2	UniSTS
NCBI RH Map	X	561.2	UniSTS

AL008956

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	108,779,008 - 108,779,153	UniSTS	GRCh37
Build 36	X	108,665,664 - 108,665,809	RGD	NCBI36
Celera	X	109,258,639 - 109,258,784	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	98,400,724 - 98,400,869	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

adipose tissue

appendage

entire extraembryonic component

High

Medium

179

136

749

522

161

165

673

331

117

Low

2253

2761

1587

528

1157

375

3782

1946

3544

251

777

1277

153

1194

2620

Below cutoff

204

198

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001242617	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001242618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA806876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF201942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF212223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF246127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ277591	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ278323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC120984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC120985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA442845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000218004 ⟹ ENSP00000218004

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	109,535,781 - 109,544,684 (+)	Ensembl

RefSeq Acc Id:

ENST00000372103 ⟹ ENSP00000361175

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	109,537,118 - 109,543,206 (+)	Ensembl

RefSeq Acc Id:

ENST00000372106 ⟹ ENSP00000361178

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	109,536,844 - 109,544,698 (+)	Ensembl

RefSeq Acc Id:

ENST00000372107 ⟹ ENSP00000361179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	109,536,664 - 109,542,974 (+)	Ensembl

RefSeq Acc Id:

NM_001242617 ⟹ NP_001229546

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,536,844 - 109,544,698 (+)	NCBI
GRCh37	X	108,779,010 - 108,787,927 (+)	ENTREZGENE
HuRef	X	98,400,726 - 98,409,609 (+)	ENTREZGENE
CHM1_1	X	108,691,324 - 108,699,192 (+)	NCBI
T2T-CHM13v2.0	X	107,984,306 - 107,992,160 (+)	NCBI

Sequence:

show sequence

GGACCGAGCTACTTCCGGGAGAGAATGGGAGGGTGGAAAATTTTGTGCGTTTGGCGGGTTTCGC
TCTCTTCATAAGTATTGATCATTCCGCAGCCCTGCGGACCGGACACGTGAGGAGGTAGTGACGC
CGACACTGCCAGAACACACTGCTACAAGGTCCCAGATGGCCACGTCTCTGGATTTTAAAACTTA
TGTAGATCAGGCATGTAGAGCTGCTGAGGAGTTTGTCAATATTTACTATGAGACAATGGATAAA
AGAAGACGGGCACTAACCAGGCTGTATCTGGACAAGGCCACCTTAATATGGAATGGAAATGCTG
TTTCAGGGCTGGATGCCCTAAATAATTTTTTTGACACATTGCCTTCTAGTGAGTTCCAGGTCAA
TATGTTAGATTGCCAACCAGTTCATGAGCAAGCAACTCAGTCCCAAACTACAGTTCTTGTTGTG
ACCAGTGGAACTGTGAAGTTTGATGGAAACAAACAACATTTCTTCAACCAGAACTTCCTGCTGA
CTGCTCAGTCCACTCCCAACAATACTGTGTGGAAGATTGCAAGTGATTGCTTCCGTTTTCAAGA
TTGGTCTAGTAGTTAAAGGGGCAAAAGTCCATTCTCATTTGGTCCATTAGTTCCAGCAATTGAA
ATTTATGTGAATTATTTTGATTGTAGAAGCACTATAATATGTGCTGAAACTAAATTTCTTTAAT
ATTTTCTATTCCTGTCAGCACCTTTTCTAGCAGCTGCCAGTTTGGAGCATTGCCCTCTAAGAGC
TTTAAAACTATTTTTTTACATGCCTTATATACATTCCACTAATGACATTCTTATAATAATATTA
AACACATGATCTTGGTACTAACATACTCACTGTGAACCCAGCCTATTGCAAAAATAAAATCTTT
TTATAATATTATCTATGGGATGTCAGCACAATATAACACTCTGGGAAGAAGTGGAGTTTTTTGG
TTATTAGGTTAATTTTCTAGTAAAACACGTTGCCTGTTTTCAGTTAACACTGGTAATGCCATTT
TAATATATGGCTTTTTCAAATCAGTTCAGTGAAAATAGTACAGATTTAGGTTTACATAACTACT
CTGACATACTGGAATTGCATATAGAGATGTTCAGTGGTCGTTTTTCATTTTAAGTAATTTTTGT
TTTGGCATTTTTTTGTGTGAAGTAAATTAATCAACTAGAGAGGTGCAAAACGTTCTCAGTTGAT
ATCTGAGTATTGGGTGCATTTGGTGGCTTAAAAGCAAAGCTTCCTAAAAAGATTTTTCTTGGCA
GCTCCAGGTCTATACATTTAGGTAATGAATGGTAGTAGAACTAATAGCTTTAACAGGAGAATAG
GGAATGAGAAATAGAAATCCAAGGCTGAAGCCAAAAGTAAGGAGGGTGGCCAAATGGTAAACTA
TTGGTACTTGTTTTCTACCTCCTAAAAATGTAGCTTATTTTTAGGATTTAAATCACTAAGTAAA
TAAGTATCCTTGCCAAGTGATCATGAGTGTCATTTTTGTTCTAAGACTAATATTTTTAGATCTT
TTTACTTCACCTCATACTTATCACCAATGTATATCTCCATTTATTCAATAACTTACTGGGGTAA
AATAACAGCAATAAACCTAACCTTTTAACAGGGTCTAACATGAGAGTTGGAGTCAAAGCCATTG
TTATCTTTTGGTGACACCCTTAAATTTTAAGTCTTCCAGTCTTCCATGTGAACTTTAGGCCCAA
AGTTTCTTATGTATCACACATCCCCCAAATAAGTGATTTTTTCCCAGTGCTTTGTACTGTCAAC
TGCATTATCTTTAATTATTTAAAGGTAGAATTATTTAATTTTGTGATTTGTTCTTCCATATGAC
ATTGAGCAAATAGATCTGTTTCAAAATATGTTCCCGCTATGTGGATAACTCTTCTTTTTAAAAA
GAAAATAGAGAATAGCAAATCTTCATGATAATCCTCAAAAGAACAAAATGCTTAACTTTATCTC
TTAATTTCTAAAGGTAAATAACCTAGGTTCAGCTTTTGCTTAAACATTAAATATCTTTTCCATT
TTTTAATGTTTGTAAGCTAGATATGCCAGCTTTGTTTCTACATTGCAACCAAAAACTGTTTCTT
TTCACTTAATTATAAAACCAGTAATTCATTTACTCTTGCCCAAAACTATACACTGTATTTCTGT
TATAGTAACAAAATAGAGTTATGTAGAATTGTATGGAACTCAAATTTAAACCATGCTTTCTTGT
AGTACTGATTGAAACTTACACGTTTTATTCTACTCATAGTGAGCTTATTCTTATTTTGGATTGA
TTTTCCAAAACCACAGCTTCAGCAGCAACAATCAGAATGTCCAAATGCTGTCCTTTCCCTTACA
GAGAAGAACAATGGTAACTAAAAGCTGCATATAACTAGCAATAACTACATTGAACGGTGTGCAT
TGTTCATGATTGTTGTGTTTTAAGACTTGTATATAAACTGCTTTTTCCAAACTCTGTATAACTT
TTAAATGGCTGGAACTACTCGTATAAGGACTAGACTGTATTTTTGACATGCTCCTATTTTTGTA
ACTTGAAAAAATAAAATTTTGCCTTGTGACAGATTTTCTCAA

hide sequence

RefSeq Acc Id:

NM_001242618 ⟹ NP_001229547

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,537,205 - 109,544,698 (+)	NCBI
GRCh37	X	108,779,010 - 108,787,927 (+)	ENTREZGENE
HuRef	X	98,400,726 - 98,409,609 (+)	ENTREZGENE
CHM1_1	X	108,691,612 - 108,699,192 (+)	NCBI
T2T-CHM13v2.0	X	107,984,667 - 107,992,160 (+)	NCBI

Sequence:

show sequence

AGCAGTCGCTTTCTGATCCCGGAAAGGACCCTGAGCTGGGAAATAGCGAGAGGCGGGGATGTTG
GGGATTTTAAAACTTATGTAGATCAGGCATGTAGAGCTGCTGAGGAGTTTGTCAATATTTACTA
TGAGACAATGGATAAAAGAAGACGGGCACTAACCAGGCTGTATCTGGACAAGGCCACCTTAATA
TGGAATGGAAATGCTGTTTCAGGGCTGGATGCCCTAAATAATTTTTTTGACACATTGCCTTCTA
GTGAGTTCCAGGTCAATATGTTAGATTGCCAACCAGTTCATGAGCAAGCAACTCAGTCCCAAAC
TACAGTTCTTGTTGTGACCAGTGGAACTGTGAAGTTTGATGGAAACAAACAACATTTCTTCAAC
CAGAACTTCCTGCTGACTGCTCAGTCCACTCCCAACAATACTGTGTGGAAGATTGCAAGTGATT
GCTTCCGTTTTCAAGATTGGTCTAGTAGTTAAAGGGGCAAAAGTCCATTCTCATTTGGTCCATT
AGTTCCAGCAATTGAAATTTATGTGAATTATTTTGATTGTAGAAGCACTATAATATGTGCTGAA
ACTAAATTTCTTTAATATTTTCTATTCCTGTCAGCACCTTTTCTAGCAGCTGCCAGTTTGGAGC
ATTGCCCTCTAAGAGCTTTAAAACTATTTTTTTACATGCCTTATATACATTCCACTAATGACAT
TCTTATAATAATATTAAACACATGATCTTGGTACTAACATACTCACTGTGAACCCAGCCTATTG
CAAAAATAAAATCTTTTTATAATATTATCTATGGGATGTCAGCACAATATAACACTCTGGGAAG
AAGTGGAGTTTTTTGGTTATTAGGTTAATTTTCTAGTAAAACACGTTGCCTGTTTTCAGTTAAC
ACTGGTAATGCCATTTTAATATATGGCTTTTTCAAATCAGTTCAGTGAAAATAGTACAGATTTA
GGTTTACATAACTACTCTGACATACTGGAATTGCATATAGAGATGTTCAGTGGTCGTTTTTCAT
TTTAAGTAATTTTTGTTTTGGCATTTTTTTGTGTGAAGTAAATTAATCAACTAGAGAGGTGCAA
AACGTTCTCAGTTGATATCTGAGTATTGGGTGCATTTGGTGGCTTAAAAGCAAAGCTTCCTAAA
AAGATTTTTCTTGGCAGCTCCAGGTCTATACATTTAGGTAATGAATGGTAGTAGAACTAATAGC
TTTAACAGGAGAATAGGGAATGAGAAATAGAAATCCAAGGCTGAAGCCAAAAGTAAGGAGGGTG
GCCAAATGGTAAACTATTGGTACTTGTTTTCTACCTCCTAAAAATGTAGCTTATTTTTAGGATT
TAAATCACTAAGTAAATAAGTATCCTTGCCAAGTGATCATGAGTGTCATTTTTGTTCTAAGACT
AATATTTTTAGATCTTTTTACTTCACCTCATACTTATCACCAATGTATATCTCCATTTATTCAA
TAACTTACTGGGGTAAAATAACAGCAATAAACCTAACCTTTTAACAGGGTCTAACATGAGAGTT
GGAGTCAAAGCCATTGTTATCTTTTGGTGACACCCTTAAATTTTAAGTCTTCCAGTCTTCCATG
TGAACTTTAGGCCCAAAGTTTCTTATGTATCACACATCCCCCAAATAAGTGATTTTTTCCCAGT
GCTTTGTACTGTCAACTGCATTATCTTTAATTATTTAAAGGTAGAATTATTTAATTTTGTGATT
TGTTCTTCCATATGACATTGAGCAAATAGATCTGTTTCAAAATATGTTCCCGCTATGTGGATAA
CTCTTCTTTTTAAAAAGAAAATAGAGAATAGCAAATCTTCATGATAATCCTCAAAAGAACAAAA
TGCTTAACTTTATCTCTTAATTTCTAAAGGTAAATAACCTAGGTTCAGCTTTTGCTTAAACATT
AAATATCTTTTCCATTTTTTAATGTTTGTAAGCTAGATATGCCAGCTTTGTTTCTACATTGCAA
CCAAAAACTGTTTCTTTTCACTTAATTATAAAACCAGTAATTCATTTACTCTTGCCCAAAACTA
TACACTGTATTTCTGTTATAGTAACAAAATAGAGTTATGTAGAATTGTATGGAACTCAAATTTA
AACCATGCTTTCTTGTAGTACTGATTGAAACTTACACGTTTTATTCTACTCATAGTGAGCTTAT
TCTTATTTTGGATTGATTTTCCAAAACCACAGCTTCAGCAGCAACAATCAGAATGTCCAAATGC
TGTCCTTTCCCTTACAGAGAAGAACAATGGTAACTAAAAGCTGCATATAACTAGCAATAACTAC
ATTGAACGGTGTGCATTGTTCATGATTGTTGTGTTTTAAGACTTGTATATAAACTGCTTTTTCC
AAACTCTGTATAACTTTTAAATGGCTGGAACTACTCGTATAAGGACTAGACTGTATTTTTGACA
TGCTCCTATTTTTGTAACTTGAAAAAATAAAATTTTGCCTTGTGACAGATTTTCTCAA

hide sequence

RefSeq Acc Id:

NM_018698 ⟹ NP_061168

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,535,824 - 109,544,698 (+)	NCBI
GRCh37	X	108,779,010 - 108,787,927 (+)	ENTREZGENE
Build 36	X	108,665,666 - 108,674,569 (+)	NCBI Archive
Celera	X	109,258,641 - 109,267,544 (+)	RGD
HuRef	X	98,400,726 - 98,409,609 (+)	ENTREZGENE
CHM1_1	X	108,690,275 - 108,699,192 (+)	NCBI
T2T-CHM13v2.0	X	107,983,286 - 107,992,160 (+)	NCBI

Sequence:

show sequence

AGCTTCCGTTAGTCCTACCTTGAAGAGAAAAGAGCCAGATAAAGAGAAAGATTAAAAGTATGAG
AAAATACAGAAGCCACTGGTCTCAGGGAGACAGAGAAGGATACCAAAGAAGAAGTAACTATTAT
GAGGGGCCACACACCAGCCACTCAAGCCCTGCGGACCGGACACGTGAGGAGGTAGTGACGCCGA
CACTGCCAGAACACACTGCTACAAGGTCCCAGATGGCCACGTCTCTGGATTTTAAAACTTATGT
AGATCAGGCATGTAGAGCTGCTGAGGAGTTTGTCAATATTTACTATGAGACAATGGATAAAAGA
AGACGGGCACTAACCAGGCTGTATCTGGACAAGGCCACCTTAATATGGAATGGAAATGCTGTTT
CAGGGCTGGATGCCCTAAATAATTTTTTTGACACATTGCCTTCTAGTGAGTTCCAGGTCAATAT
GTTAGATTGCCAACCAGTTCATGAGCAAGCAACTCAGTCCCAAACTACAGTTCTTGTTGTGACC
AGTGGAACTGTGAAGTTTGATGGAAACAAACAACATTTCTTCAACCAGAACTTCCTGCTGACTG
CTCAGTCCACTCCCAACAATACTGTGTGGAAGATTGCAAGTGATTGCTTCCGTTTTCAAGATTG
GTCTAGTAGTTAAAGGGGCAAAAGTCCATTCTCATTTGGTCCATTAGTTCCAGCAATTGAAATT
TATGTGAATTATTTTGATTGTAGAAGCACTATAATATGTGCTGAAACTAAATTTCTTTAATATT
TTCTATTCCTGTCAGCACCTTTTCTAGCAGCTGCCAGTTTGGAGCATTGCCCTCTAAGAGCTTT
AAAACTATTTTTTTACATGCCTTATATACATTCCACTAATGACATTCTTATAATAATATTAAAC
ACATGATCTTGGTACTAACATACTCACTGTGAACCCAGCCTATTGCAAAAATAAAATCTTTTTA
TAATATTATCTATGGGATGTCAGCACAATATAACACTCTGGGAAGAAGTGGAGTTTTTTGGTTA
TTAGGTTAATTTTCTAGTAAAACACGTTGCCTGTTTTCAGTTAACACTGGTAATGCCATTTTAA
TATATGGCTTTTTCAAATCAGTTCAGTGAAAATAGTACAGATTTAGGTTTACATAACTACTCTG
ACATACTGGAATTGCATATAGAGATGTTCAGTGGTCGTTTTTCATTTTAAGTAATTTTTGTTTT
GGCATTTTTTTGTGTGAAGTAAATTAATCAACTAGAGAGGTGCAAAACGTTCTCAGTTGATATC
TGAGTATTGGGTGCATTTGGTGGCTTAAAAGCAAAGCTTCCTAAAAAGATTTTTCTTGGCAGCT
CCAGGTCTATACATTTAGGTAATGAATGGTAGTAGAACTAATAGCTTTAACAGGAGAATAGGGA
ATGAGAAATAGAAATCCAAGGCTGAAGCCAAAAGTAAGGAGGGTGGCCAAATGGTAAACTATTG
GTACTTGTTTTCTACCTCCTAAAAATGTAGCTTATTTTTAGGATTTAAATCACTAAGTAAATAA
GTATCCTTGCCAAGTGATCATGAGTGTCATTTTTGTTCTAAGACTAATATTTTTAGATCTTTTT
ACTTCACCTCATACTTATCACCAATGTATATCTCCATTTATTCAATAACTTACTGGGGTAAAAT
AACAGCAATAAACCTAACCTTTTAACAGGGTCTAACATGAGAGTTGGAGTCAAAGCCATTGTTA
TCTTTTGGTGACACCCTTAAATTTTAAGTCTTCCAGTCTTCCATGTGAACTTTAGGCCCAAAGT
TTCTTATGTATCACACATCCCCCAAATAAGTGATTTTTTCCCAGTGCTTTGTACTGTCAACTGC
ATTATCTTTAATTATTTAAAGGTAGAATTATTTAATTTTGTGATTTGTTCTTCCATATGACATT
GAGCAAATAGATCTGTTTCAAAATATGTTCCCGCTATGTGGATAACTCTTCTTTTTAAAAAGAA
AATAGAGAATAGCAAATCTTCATGATAATCCTCAAAAGAACAAAATGCTTAACTTTATCTCTTA
ATTTCTAAAGGTAAATAACCTAGGTTCAGCTTTTGCTTAAACATTAAATATCTTTTCCATTTTT
TAATGTTTGTAAGCTAGATATGCCAGCTTTGTTTCTACATTGCAACCAAAAACTGTTTCTTTTC
ACTTAATTATAAAACCAGTAATTCATTTACTCTTGCCCAAAACTATACACTGTATTTCTGTTAT
AGTAACAAAATAGAGTTATGTAGAATTGTATGGAACTCAAATTTAAACCATGCTTTCTTGTAGT
ACTGATTGAAACTTACACGTTTTATTCTACTCATAGTGAGCTTATTCTTATTTTGGATTGATTT
TCCAAAACCACAGCTTCAGCAGCAACAATCAGAATGTCCAAATGCTGTCCTTTCCCTTACAGAG
AAGAACAATGGTAACTAAAAGCTGCATATAACTAGCAATAACTACATTGAACGGTGTGCATTGT
TCATGATTGTTGTGTTTTAAGACTTGTATATAAACTGCTTTTTCCAAACTCTGTATAACTTTTA
AATGGCTGGAACTACTCGTATAAGGACTAGACTGTATTTTTGACATGCTCCTATTTTTGTAACT
TGAAAAAATAAAATTTTGCCTTGTGACAGATTTTCTCAA

hide sequence

RefSeq Acc Id:

XM_011530989 ⟹ XP_011529291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,537,205 - 109,544,698 (+)	NCBI

Sequence:

show sequence

GATCCCGGAAAGGACCCTGAGCTGGGAAATAGCGAGAGGCGGGGATGTTGGGGTTTGTTGTTTA
TGGCTTGCAGTTTCTTTCTCTCGATTATCTTCCTCTCTAAAAATCACTTTCAGTCACCTGACAA
AGAAACTGGCGATTCATTGTTCTTAATTTAGTAATAGACTGGGCCCCGTACATGAATGAGAAGG
AAGGATTTTAAAACTTATGTAGATCAGGCATGTAGAGCTGCTGAGGAGTTTGTCAATATTTACT
ATGAGACAATGGATAAAAGAAGACGGGCACTAACCAGGCTGTATCTGGACAAGGCCACCTTAAT
ATGGAATGGAAATGCTGTTTCAGGGCTGGATGCCCTAAATAATTTTTTTGACACATTGCCTTCT
AGTGAGTTCCAGGTCAATATGTTAGATTGCCAACCAGTTCATGAGCAAGCAACTCAGTCCCAAA
CTACAGTTCTTGTTGTGACCAGTGGAACTGTGAAGTTTGATGGAAACAAACAACATTTCTTCAA
CCAGAACTTCCTGCTGACTGCTCAGTCCACTCCCAACAATACTGTGTGGAAGATTGCAAGTGAT
TGCTTCCGTTTTCAAGATTGGTCTAGTAGTTAAAGGGGCAAAAGTCCATTCTCATTTGGTCCAT
TAGTTCCAGCAATTGAAATTTATGTGAATTATTTTGATTGTAGAAGCACTATAATATGTGCTGA
AACTAAATTTCTTTAATATTTTCTATTCCTGTCAGCACCTTTTCTAGCAGCTGCCAGTTTGGAG
CATTGCCCTCTAAGAGCTTTAAAACTATTTTTTTACATGCCTTATATACATTCCACTAATGACA
TTCTTATAATAATATTAAACACATGATCTTGGTACTAACATACTCACTGTGAACCCAGCCTATT
GCAAAAATAAAATCTTTTTATAATATTATCTATGGGATGTCAGCACAATATAACACTCTGGGAA
GAAGTGGAGTTTTTTGGTTATTAGGTTAATTTTCTAGTAAAACACGTTGCCTGTTTTCAGTTAA
CACTGGTAATGCCATTTTAATATATGGCTTTTTCAAATCAGTTCAGTGAAAATAGTACAGATTT
AGGTTTACATAACTACTCTGACATACTGGAATTGCATATAGAGATGTTCAGTGGTCGTTTTTCA
TTTTAAGTAATTTTTGTTTTGGCATTTTTTTGTGTGAAGTAAATTAATCAACTAGAGAGGTGCA
AAACGTTCTCAGTTGATATCTGAGTATTGGGTGCATTTGGTGGCTTAAAAGCAAAGCTTCCTAA
AAAGATTTTTCTTGGCAGCTCCAGGTCTATACATTTAGGTAATGAATGGTAGTAGAACTAATAG
CTTTAACAGGAGAATAGGGAATGAGAAATAGAAATCCAAGGCTGAAGCCAAAAGTAAGGAGGGT
GGCCAAATGGTAAACTATTGGTACTTGTTTTCTACCTCCTAAAAATGTAGCTTATTTTTAGGAT
TTAAATCACTAAGTAAATAAGTATCCTTGCCAAGTGATCATGAGTGTCATTTTTGTTCTAAGAC
TAATATTTTTAGATCTTTTTACTTCACCTCATACTTATCACCAATGTATATCTCCATTTATTCA
ATAACTTACTGGGGTAAAATAACAGCAATAAACCTAACCTTTTAACAGGGTCTAACATGAGAGT
TGGAGTCAAAGCCATTGTTATCTTTTGGTGACACCCTTAAATTTTAAGTCTTCCAGTCTTCCAT
GTGAACTTTAGGCCCAAAGTTTCTTATGTATCACACATCCCCCAAATAAGTGATTTTTTCCCAG
TGCTTTGTACTGTCAACTGCATTATCTTTAATTATTTAAAGGTAGAATTATTTAATTTTGTGAT
TTGTTCTTCCATATGACATTGAGCAAATAGATCTGTTTCAAAATATGTTCCCGCTATGTGGATA
ACTCTTCTTTTTAAAAAGAAAATAGAGAATAGCAAATCTTCATGATAATCCTCAAAAGAACAAA
ATGCTTAACTTTATCTCTTAATTTCTAAAGGTAAATAACCTAGGTTCAGCTTTTGCTTAAACAT
TAAATATCTTTTCCATTTTTTAATGTTTGTAAGCTAGATATGCCAGCTTTGTTTCTACATTGCA
ACCAAAAACTGTTTCTTTTCACTTAATTATAAAACCAGTAATTCATTTACTCTTGCCCAAAACT
ATACACTGTATTTCTGTTATAGTAACAAAATAGAGTTATGTAGAATTGTATGGAACTCAAATTT
AAACCATGCTTTCTTGTAGTACTGATTGAAACTTACACGTTTTATTCTACTCATAGTGAGCTTA
TTCTTATTTTGGATTGATTTTCCAAAACCACAGCTTCAGCAGCAACAATCAGAATGTCCAAATG
CTGTCCTTTCCCTTACAGAGAAGAACAATGGTAACTAAAAGCTGCATATAACTAGCAATAACTA
CATTGAACGGTGTGCATTGTTCATGATTGTTGTGTTTTAAGACTTGTATATAAACTGCTTTTTC
CAAACTCTGTATAACTTTTAAATGGCTGGAACTACTCGTATAAGGACTAGACTGTATTTTTGAC
ATGCTCCTATTTTTGTAACTTGAAAAAATAAAATTTTGCCTTGTGACAGATTTTCTCAA

hide sequence

RefSeq Acc Id:

XM_017029648 ⟹ XP_016885137

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,537,382 - 109,544,698 (+)	NCBI

Sequence:

show sequence

GTGTGTGTGTGTGTTTCCCATTCATCAACTTTGGAGTTTGGCTCTAACACCTCACTTGAAAACA
GAAAACAATTTCCTAGCTTATTCAGTGGCAGTTTTTGCCGCTCTCTCTCCTTTTCTAAGGTTCA
GGATTTTAAAACTTATGTAGATCAGGCATGTAGAGCTGCTGAGGAGTTTGTCAATATTTACTAT
GAGACAATGGATAAAAGAAGACGGGCACTAACCAGGCTGTATCTGGACAAGGCCACCTTAATAT
GGAATGGAAATGCTGTTTCAGGGCTGGATGCCCTAAATAATTTTTTTGACACATTGCCTTCTAG
TGAGTTCCAGGTCAATATGTTAGATTGCCAACCAGTTCATGAGCAAGCAACTCAGTCCCAAACT
ACAGTTCTTGTTGTGACCAGTGGAACTGTGAAGTTTGATGGAAACAAACAACATTTCTTCAACC
AGAACTTCCTGCTGACTGCTCAGTCCACTCCCAACAATACTGTGTGGAAGATTGCAAGTGATTG
CTTCCGTTTTCAAGATTGGTCTAGTAGTTAAAGGGGCAAAAGTCCATTCTCATTTGGTCCATTA
GTTCCAGCAATTGAAATTTATGTGAATTATTTTGATTGTAGAAGCACTATAATATGTGCTGAAA
CTAAATTTCTTTAATATTTTCTATTCCTGTCAGCACCTTTTCTAGCAGCTGCCAGTTTGGAGCA
TTGCCCTCTAAGAGCTTTAAAACTATTTTTTTACATGCCTTATATACATTCCACTAATGACATT
CTTATAATAATATTAAACACATGATCTTGGTACTAACATACTCACTGTGAACCCAGCCTATTGC
AAAAATAAAATCTTTTTATAATATTATCTATGGGATGTCAGCACAATATAACACTCTGGGAAGA
AGTGGAGTTTTTTGGTTATTAGGTTAATTTTCTAGTAAAACACGTTGCCTGTTTTCAGTTAACA
CTGGTAATGCCATTTTAATATATGGCTTTTTCAAATCAGTTCAGTGAAAATAGTACAGATTTAG
GTTTACATAACTACTCTGACATACTGGAATTGCATATAGAGATGTTCAGTGGTCGTTTTTCATT
TTAAGTAATTTTTGTTTTGGCATTTTTTTGTGTGAAGTAAATTAATCAACTAGAGAGGTGCAAA
ACGTTCTCAGTTGATATCTGAGTATTGGGTGCATTTGGTGGCTTAAAAGCAAAGCTTCCTAAAA
AGATTTTTCTTGGCAGCTCCAGGTCTATACATTTAGGTAATGAATGGTAGTAGAACTAATAGCT
TTAACAGGAGAATAGGGAATGAGAAATAGAAATCCAAGGCTGAAGCCAAAAGTAAGGAGGGTGG
CCAAATGGTAAACTATTGGTACTTGTTTTCTACCTCCTAAAAATGTAGCTTATTTTTAGGATTT
AAATCACTAAGTAAATAAGTATCCTTGCCAAGTGATCATGAGTGTCATTTTTGTTCTAAGACTA
ATATTTTTAGATCTTTTTACTTCACCTCATACTTATCACCAATGTATATCTCCATTTATTCAAT
AACTTACTGGGGTAAAATAACAGCAATAAACCTAACCTTTTAACAGGGTCTAACATGAGAGTTG
GAGTCAAAGCCATTGTTATCTTTTGGTGACACCCTTAAATTTTAAGTCTTCCAGTCTTCCATGT
GAACTTTAGGCCCAAAGTTTCTTATGTATCACACATCCCCCAAATAAGTGATTTTTTCCCAGTG
CTTTGTACTGTCAACTGCATTATCTTTAATTATTTAAAGGTAGAATTATTTAATTTTGTGATTT
GTTCTTCCATATGACATTGAGCAAATAGATCTGTTTCAAAATATGTTCCCGCTATGTGGATAAC
TCTTCTTTTTAAAAAGAAAATAGAGAATAGCAAATCTTCATGATAATCCTCAAAAGAACAAAAT
GCTTAACTTTATCTCTTAATTTCTAAAGGTAAATAACCTAGGTTCAGCTTTTGCTTAAACATTA
AATATCTTTTCCATTTTTTAATGTTTGTAAGCTAGATATGCCAGCTTTGTTTCTACATTGCAAC
CAAAAACTGTTTCTTTTCACTTAATTATAAAACCAGTAATTCATTTACTCTTGCCCAAAACTAT
ACACTGTATTTCTGTTATAGTAACAAAATAGAGTTATGTAGAATTGTATGGAACTCAAATTTAA
ACCATGCTTTCTTGTAGTACTGATTGAAACTTACACGTTTTATTCTACTCATAGTGAGCTTATT
CTTATTTTGGATTGATTTTCCAAAACCACAGCTTCAGCAGCAACAATCAGAATGTCCAAATGCT
GTCCTTTCCCTTACAGAGAAGAACAATGGTAACTAAAAGCTGCATATAACTAGCAATAACTACA
TTGAACGGTGTGCATTGTTCATGATTGTTGTGTTTTAAGACTTGTATATAAACTGCTTTTTCCA
AACTCTGTATAACTTTTAAATGGCTGGAACTACTCGTATAAGGACTAGACTGTATTTTTGACAT
GCTCCTATTTTTGTAACTTGAAAAAATAAAATTTTGCCTTGTGACAGATTTTCTCAA

hide sequence

RefSeq Acc Id:

XM_054327399 ⟹ XP_054183374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	107,984,643 - 107,992,160 (+)	NCBI

RefSeq Acc Id:

XM_054327400 ⟹ XP_054183375

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	107,985,012 - 107,992,160 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001229546	(Get FASTA)	NCBI Sequence Viewer
	NP_001229547	(Get FASTA)	NCBI Sequence Viewer
	NP_061168	(Get FASTA)	NCBI Sequence Viewer
	XP_011529291	(Get FASTA)	NCBI Sequence Viewer
	XP_016885137	(Get FASTA)	NCBI Sequence Viewer
	XP_054183374	(Get FASTA)	NCBI Sequence Viewer
	XP_054183375	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF78034	(Get FASTA)	NCBI Sequence Viewer
	AAF86878	(Get FASTA)	NCBI Sequence Viewer
	AAF87325	(Get FASTA)	NCBI Sequence Viewer
	AAI20985	(Get FASTA)	NCBI Sequence Viewer
	AAI20986	(Get FASTA)	NCBI Sequence Viewer
	BAB14511	(Get FASTA)	NCBI Sequence Viewer
	CAB96371	(Get FASTA)	NCBI Sequence Viewer
	CAC01129	(Get FASTA)	NCBI Sequence Viewer
	CAK32269	(Get FASTA)	NCBI Sequence Viewer
	EAX02677	(Get FASTA)	NCBI Sequence Viewer
	EAX02678	(Get FASTA)	NCBI Sequence Viewer
	EAX02679	(Get FASTA)	NCBI Sequence Viewer
	EAX02680	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000218004
	ENSP00000218004.1
	ENSP00000361175
	ENSP00000361175.1
	ENSP00000361178
	ENSP00000361178.1
	ENSP00000361179.1
GenBank Protein	Q9NPJ8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061168 ⟸ NM_018698
- Peptide Label:	isoform 1
- UniProtKB:	Q9NPJ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRKYRSHWSQGDREGYQRRSNYYEGPHTSHSSPADRTREEVVTPTLPEHTATRSQMATSLDFKT YVDQACRAAEEFVNIYYETMDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFDTLPSSEFQV NMLDCQPVHEQATQSQTTVLVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWKIASDCFRFQ DWSSS hide sequence

RefSeq Acc Id:	NP_001229546 ⟸ NM_001242617
- Peptide Label:	isoform 2
- UniProtKB:	Q9Y3M4 (UniProtKB/Swiss-Prot), Q9NRL7 (UniProtKB/Swiss-Prot), Q9NQ64 (UniProtKB/Swiss-Prot), Q9H8U0 (UniProtKB/Swiss-Prot), Q5JYV7 (UniProtKB/Swiss-Prot), Q5JYV6 (UniProtKB/Swiss-Prot), Q5JYV5 (UniProtKB/Swiss-Prot), Q0VAN8 (UniProtKB/Swiss-Prot), D3DUY1 (UniProtKB/Swiss-Prot), Q9Y3M5 (UniProtKB/Swiss-Prot), Q9NPJ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MATSLDFKTYVDQACRAAEEFVNIYYETMDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFD TLPSSEFQVNMLDCQPVHEQATQSQTTVLVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWK IASDCFRFQDWSSS hide sequence

RefSeq Acc Id:	NP_001229547 ⟸ NM_001242618
- Peptide Label:	isoform 3
- UniProtKB:	Q9NPJ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFDTLPSSEFQVNMLDCQPVHEQATQSQTTV LVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWKIASDCFRFQDWSSS hide sequence

RefSeq Acc Id:	XP_011529291 ⟸ XM_011530989
- Peptide Label:	isoform X1
- Sequence:	show sequence MRRKDFKTYVDQACRAAEEFVNIYYETMDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFDT LPSSEFQVNMLDCQPVHEQATQSQTTVLVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWKI ASDCFRFQDWSSS hide sequence

RefSeq Acc Id:	XP_016885137 ⟸ XM_017029648
- Peptide Label:	isoform X2
- UniProtKB:	Q9NPJ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFDTLPSSEFQVNMLDCQPVHEQATQSQTTV LVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWKIASDCFRFQDWSSS hide sequence

RefSeq Acc Id:

ENSP00000361175 ⟸ ENST00000372103

RefSeq Acc Id:

ENSP00000361178 ⟸ ENST00000372106

RefSeq Acc Id:

ENSP00000361179 ⟸ ENST00000372107

RefSeq Acc Id:

ENSP00000218004 ⟸ ENST00000218004

RefSeq Acc Id:	XP_054183374 ⟸ XM_054327399
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054183375 ⟸ XM_054327400
- Peptide Label:	isoform X2

Protein Domains

NTF2

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NPJ8-F1-model_v2	AlphaFold	Q9NPJ8	1-142	view protein structure

Promoters

RGD ID:

6808682

Promoter ID:

HG_KWN:67740

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000343061, ENST00000372107, UC004EOF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	108,666,386 - 108,667,002 (+)	MPROMDB

RGD ID:

13627850

Promoter ID:

EPDNEW_H29200

Type:

initiation region

Name:

NXT2_3

Description:

nuclear transport factor 2 like export factor 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29202 EPDNEW_H29201

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,535,824 - 109,535,884	EPDNEW

RGD ID:

13627854

Promoter ID:

EPDNEW_H29201

Type:

initiation region

Name:

NXT2_2

Description:

nuclear transport factor 2 like export factor 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29200 EPDNEW_H29202

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,536,844 - 109,536,904	EPDNEW

RGD ID:

13627852

Promoter ID:

EPDNEW_H29202

Type:

initiation region

Name:

NXT2_1

Description:

nuclear transport factor 2 like export factor 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29200 EPDNEW_H29201

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	109,537,205 - 109,537,265	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18151	AgrOrtholog
COSMIC	NXT2	COSMIC
Ensembl Genes	ENSG00000101888	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000218004	ENTREZGENE
	ENST00000218004.5	UniProtKB/Swiss-Prot
	ENST00000372103	ENTREZGENE
	ENST00000372103.1	UniProtKB/Swiss-Prot
	ENST00000372106	ENTREZGENE
	ENST00000372106.6	UniProtKB/Swiss-Prot
	ENST00000372107.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.450.50	UniProtKB/Swiss-Prot
GTEx	ENSG00000101888	GTEx
HGNC ID	HGNC:18151	ENTREZGENE
Human Proteome Map	NXT2	Human Proteome Map
InterPro	NTF2	UniProtKB/Swiss-Prot
	NTF2-like_dom_sf	UniProtKB/Swiss-Prot
	NTF2/Mtr2	UniProtKB/Swiss-Prot
	Nuclear_transport_factor_2_euk	UniProtKB/Swiss-Prot
KEGG Report	hsa:55916	UniProtKB/Swiss-Prot
NCBI Gene	55916	ENTREZGENE
OMIM	300320	OMIM
PANTHER	NTF2-RELATED EXPORT PROTEIN 2	UniProtKB/Swiss-Prot
	PTHR12612	UniProtKB/Swiss-Prot
Pfam	NTF2	UniProtKB/Swiss-Prot
PharmGKB	PA134928861	PharmGKB
PROSITE	NTF2_DOMAIN	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54427	UniProtKB/Swiss-Prot
UniProt	D3DUY1	ENTREZGENE
	NXT2_HUMAN	UniProtKB/Swiss-Prot
	Q0VAN8	ENTREZGENE
	Q5JYV5	ENTREZGENE
	Q5JYV6	ENTREZGENE
	Q5JYV7	ENTREZGENE
	Q9H8U0	ENTREZGENE
	Q9NPJ8	ENTREZGENE
	Q9NQ64	ENTREZGENE
	Q9NRL7	ENTREZGENE
	Q9Y3M4	ENTREZGENE
	Q9Y3M5	ENTREZGENE
UniProt Secondary	D3DUY1	UniProtKB/Swiss-Prot
	Q0VAN8	UniProtKB/Swiss-Prot
	Q5JYV5	UniProtKB/Swiss-Prot
	Q5JYV6	UniProtKB/Swiss-Prot
	Q5JYV7	UniProtKB/Swiss-Prot
	Q9H8U0	UniProtKB/Swiss-Prot
	Q9NQ64	UniProtKB/Swiss-Prot
	Q9NRL7	UniProtKB/Swiss-Prot
	Q9Y3M4	UniProtKB/Swiss-Prot
	Q9Y3M5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	NXT2	nuclear transport factor 2 like export factor 2		nuclear transport factor 2-like export factor 2	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

Send us a Message

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar