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Gene: GAGE1 (G antigen 1) Homo sapiens

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No known orthologs.

Symbol:

GAGE1

Name:

G antigen 1

RGD ID:

1351546

HGNC Page

HGNC:4098

Description:

This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cancer/testis antigen 4.1; Cancer/testis antigen 4.4; cancer/testis antigen family 4, member 1; CT4.1; CT4.4; G antigen 4; GAGE-1; GAGE-4; GAGE4; MGC33825; MZ2-F antigen

RGD Orthologs

Alliance Orthologs

More Info

homologs ...

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	49,599,013 - 49,608,538 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	49,599,020 - 49,608,538 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	49,363,616 - 49,373,141 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	49,250,567 - 49,257,905 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	49,057,377 - 49,073,953	NCBI
Celera	X	52,490,621 - 52,504,270 (-)	NCBI		Celera
Celera	X	53,437,862 - 53,442,740 (+)	NCBI		Celera
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	46,835,328 - 46,840,133 (+)	NCBI		HuRef
CHM1_1	X	49,443,345 - 49,452,925 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	48,838,585 - 48,924,369 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
GAGE1	Human	congenital disorder of glycosylation type IIm		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
GAGE1	Human	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	ClinVar	PMID:28492532
GAGE1	Human	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	ClinVar	PMID:11137992 more ...
GAGE1	Human	neurodegeneration with brain iron accumulation 5		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration	ClinVar	PMID:28492532
GAGE1	Human	Stocco Dos Santos type X-linked intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked intellectual disability and Stocco dos Santos type	ClinVar	PMID:25670966
GAGE1	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868
GAGE1	Human	Thrombocytopenia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Thrombocytopenia and X-linked	ClinVar	PMID:28492532
GAGE1	Human	Wiskott-Aldrich syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1	ClinVar	PMID:28492532
GAGE1	Human	X-linked epilepsy with variable learning disabilities and behavior disorders		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:28492532
GAGE1	Human	X-linked severe congenital neutropenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked severe congenital neutropenia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	adenocarcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:14991579
GAGE1	Human	pancreatic cancer		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:14991579

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	aripiprazole	increases expression	EXP		6480464	Aripiprazole results in increased expression of GAGE1 mRNA	CTD	PMID:31476115
GAGE1	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of GAGE1 3' UTR	CTD	PMID:27901495
GAGE1	Human	ozone	increases expression	EXP		6480464	Ozone results in increased expression of GAGE1 mRNA	CTD	PMID:31476115

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	biological_process	involved_in	ND		150520179		UniProt	GO_REF:0000015

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	cellular_component	is_active_in	ND		150520179		UniProt	GO_REF:0000015

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	molecular_function	enables	ND		150520179		UniProt	GO_REF:0000015
GAGE1	Human	protein binding	enables	IPI	UniProtKB:Q96IK5	150520179	PMID:32296183	IntAct	PMID:32296183
GAGE1	Human	protein binding	enables	IPI	UniProtKB:P50222 and UniProtKB:Q53SE7	150520179	PMID:25416956	IntAct	PMID:25416956

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAGE1	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium

PMID:7544395	PMID:9651357	PMID:10397259	PMID:12477932	PMID:12890744	PMID:14607688	PMID:15206491	PMID:15362791	PMID:16929165	PMID:17208940	PMID:17709385	PMID:17715884
PMID:18179644	PMID:20053773	PMID:20423514	PMID:21832049	PMID:25416956	PMID:28625976	PMID:29577858	PMID:30103946	PMID:30297572	PMID:32296183	PMID:33961781

Variants in GAGE1
1 total 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: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: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-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: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 Xp11.23-11.22(chrX:47859417-52789530)x3	copy number gain	See cases [RCV000052390]	ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22	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 Xp11.23-11.22(chrX:48344666-52664916)x2	copy number gain	See cases [RCV000051992]	ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22	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-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: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 Xp22.33-11.21(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-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-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 Xp22.33-11.22(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: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: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 Xp22.33-11.23(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-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 Xp22.33-11.21(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 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 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 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	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 Xp11.23-11.22(chrX:48022053-52664916)x3	copy number gain	See cases [RCV000135801]	ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
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: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-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-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 Xp11.23-11.21(chrX:48344666-58055036)x3	copy number gain	See cases [RCV000135958]	ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21	pathogenic
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 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-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 Xp11.23-11.22(chrX:48260861-52664916)x2	copy number gain	See cases [RCV000136829]	ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22	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 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3	copy number gain	See cases [RCV000138106]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1	copy number loss	See cases [RCV000138107]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
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 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 Xp11.23(chrX:49316774-49611138)x2	copy number gain	See cases [RCV000139066]	ChrX:49316774..49611138 [GRCh38] ChrX:49173253..49370289 [GRCh37] ChrX:49060197..49262688 [NCBI36] ChrX:Xp11.23	likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2	copy number gain	See cases [RCV000139185]	ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
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 Xp22.33-11.22(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 Xp11.23-11.22(chrX:48953927-53273903)x2	copy number gain	See cases [RCV000141869]	ChrX:48953927..53273903 [GRCh38] ChrX:48811187..53303085 [GRCh37] ChrX:48696131..53319810 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
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 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	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 Xp22.33-11.21(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 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-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
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
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 Xp22.33-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 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 Xp11.23-11.22(chrX:48310313-52614698)x1	copy number loss	See cases [RCV000203435]	ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
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: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 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	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:71267-155224766)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: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 Xp22.33-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 Xp22.2-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-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 Xp11.23-11.22(chrX:48317353-51497588)x3	copy number gain	See cases [RCV000449147]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	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: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:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [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 Xp22.33-11.22(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 Xp11.23-11.22(chrX:48317353-51497588)x2	copy number gain	See cases [RCV000447617]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [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: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-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	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 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:168546-57683964)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:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	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 Xp11.23-11.22(chrX:48224454-52813336)x3	copy number gain	See cases [RCV000512224]	ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	copy number gain	See cases [RCV000512561]	ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22	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
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 Xp11.23-11.22(chrX:48156672-52672728)x1	copy number loss	not provided [RCV000684331]	ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23(chrX:49360237-49795931)x2	copy number gain	not provided [RCV000684332]	ChrX:49360237..49795931 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	copy number gain	not provided [RCV000847795]	ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
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 Xp11.23(chrX:49372780-49405117)x0	copy number loss	not provided [RCV000753539]	ChrX:49372780..49405117 [GRCh37] ChrX:Xp11.23	benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1	copy number loss	not provided [RCV000753535]	ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2	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:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] 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 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [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:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	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
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
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 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	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
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
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 Xp11.23-11.22(chrX:47179068-54424785)x2	copy number gain	not provided [RCV001537899]	ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	copy number gain	not provided [RCV001007303]	ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22	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 Xp11.23(chrX:49360237-49636361)x2	copy number gain	not provided [RCV001258951]	ChrX:49360237..49636361 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	copy number gain	not provided [RCV001258953]	ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	copy number gain	not provided [RCV001258954]	ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23(chrX:49293398-49636361)x2	copy number gain	not provided [RCV001258950]	ChrX:49293398..49636361 [GRCh37] ChrX:Xp11.23	uncertain significance
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 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	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.(?_48382160)_(49856876_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV001305099]\|SLC35A2-congenital disorder of glycosylation [RCV001308190]	ChrX:48382160..49856876 [GRCh37] ChrX:Xp11.23-11.22	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
NC_000023.10:g.(?_48932462)_(49840657_?)dup	duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001922920]	ChrX:48932462..49840657 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
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
Single allele	deletion	X-linked intellectual disability, Stocco dos Santos type [RCV002287905]	ChrX:49369600..50447320 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23(chrX:49371149-49636439)x3	copy number gain	not provided [RCV002474888]	ChrX:49371149..49636439 [GRCh37] ChrX:Xp11.23	uncertain significance
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
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
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
NC_000023.10:g.(?_46466387)_(51241672_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	copy number gain	not provided [RCV003485288]	ChrX:48224455..52832596 [GRCh37] ChrX:Xp11.23-11.22	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
NC_000023.10:g.(?_48368209)_(51241672_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV004579591]\|SLC35A2-congenital disorder of glycosylation [RCV004579592]\|X-linked severe congenital neutropenia [RCV003111119]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)del	deletion	not provided [RCV003116321]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
NC_000023.10:g.(?_46466387)_(51241672_?)del	deletion	not provided [RCV003154905]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
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

Predicted Target Of

	Summary Value
Count of predictions:	1059
Count of miRNA genes:	637
Interacting mature miRNAs:	715
Transcripts:	ENST00000381700, ENST00000381709
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597341085	GWAS1437159_H	asthma QTL GWAS1437159 (human)		5e-08	asthma		X	49604160	49604161	Human

L17877

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	4	p15.31	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	X	q21.1	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	18	q21.31	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	9	q21.3	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	8	q13.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	19	q	UniSTS
Cytogenetic Map	4	p16	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	12	q14.2	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	15	q13.3	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	17	q25.3	UniSTS

D7S2067E

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	7	q11.2	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	6	p21.1-p11.2	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	10	p15-p14	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	5	q33.3	UniSTS

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

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	renal system	reproductive system	respiratory system
34	1	2	65	44	118	2	36	43	38	46	123	57	11	22	19	101	79


RefSeq Transcripts	NM_001040663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_102272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011543896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC142496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC142497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC231643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB448801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC401704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U19142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000381700 ⟹ ENSP00000371119

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,599,020 - 49,608,538 (+)	Ensembl

Ensembl Acc Id:

ENST00000381709 ⟹ ENSP00000371128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,599,025 - 49,608,536 (+)	Ensembl

Ensembl Acc Id:

ENST00000610680 ⟹ ENSP00000482230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,589,496 - 49,606,109 (+)	Ensembl

Ensembl Acc Id:

ENST00000619375 ⟹ ENSP00000484668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,600,175 - 49,608,534 (+)	Ensembl

RefSeq Acc Id:

NM_001040663 ⟹ NP_001035753

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,599,020 - 49,608,538 (+)	NCBI
GRCh37	X	49,363,616 - 49,373,139 (+)	ENTREZGENE
Build 36	X	49,250,567 - 49,257,905 (+)	NCBI Archive
HuRef	X	46,835,328 - 46,840,133 (+)	ENTREZGENE
CHM1_1	X	49,443,345 - 49,452,925 (+)	NCBI
T2T-CHM13v2.0	X	48,838,592 - 48,924,369 (+)	NCBI

Sequence:

show sequence

GTCTTCTGCCCGGCCCCTTCGCCCACGTGAAGAACGCCAGGGAGCTGTGAGGCAGTGCTGTGTGGTTCCTGCCGTCCGGACTCTTTTTCCTCTACTGAGATTCATCTGTGTGAAATATGAGTTGGCGA
GGAAGATCGACCTATTATTGGCCTAGACCAAGGCGCTATGTACAGCCTCCTGAAATGATTGGGCCTATGCGGCCCGAGCAGTTCAGTGATGAAGTGGAACCAGCAACACCTGAAGAAGGGGAACCAGC
AACTCAACGTCAGGATCCTGCAGCTGCTCAGGAGGGAGAGGATGAGGGAGCATCTGCAGGTCAAGGGCCGAAGCCTGAAGCTGATAGCCAGGAACAGGGTCACCCACAGACTGGGTGTGAGTGTGAAG
ATGGTCCTGATGGGCAGGAGATGGACCCGCCAAATCCAGAGGAGGTGAAAACGCCTGAAGAAGGTGAAGGGCAATCACAGTGTTAAAAGAAGACATGCTGAAATGTTGCAGGCTGCTCCTATGTTGGA
AAATTCTTCATTGAAGTTCTCCCAATAAAGCTTTACAGCCTTCTGCAAAGAAGTCTTGTGAATCTTTTGTCAATTTTATTTCTAGCTATTTGATGCTGTGAAATGTTTCATTCTTTGCAATTTTGTAT
TCTATCTCCTTGAGCTGTGTGTAGAGGCATAATTCTCATGTATTGATTTTCTATCCAGCAACCTTGTTAAATATGCTTATGAATTTTAAAAGTTTACTTCTAGGTTTTTTCAGTTTTCAACCTACAGA
ATCATATCATTTTTGAATAAGAACAATTTTGTTTCTGCCTTTTTTGTTTGTTTTTTCTTTTGTATTTTTCGTAGAGGTGGGATTTTGGCCTGTGTCCTAGGCTTTTTTTGAACTCCTGAGCGCAAGTA
ATCCACTCTCCTTGGCCTTTCAAAGTGTTGGGATTACAGGCATGGGCCACCGTGCTGGTCCTGTTTTTGCCATTTTAAACCCTTTTATTTCCTTTTCTGATTTTATGGCATTGAGCAGATCTACCGGA
TACAATTGTGATAGTGGAAATTTTTGTGTTATTCCTGATGAGAAATGGAAAAATTTCAACATTTCACGACAATATTTAGTGTACTTTTTTTGTAGATGGACTTTTTCAGAGTAAGTCAAGCCATTCTG
TTTTAGTTTGTTGAGAGTGTTCATTTTGAATATATGTTGAATTTCATCAAACACTGACCTGAGTCATCTTAAAACATGTGAATTGAGATTTCTTTGCTACTAAGAAAGTGAGCGGGCACTCTGCTTCA
TGTTTACTTTTGTCATGTTGCATGAAAAACATTTTGCTTCATGTTTGATTCTGTATGTTGAAAACTGAAATCATCTATTGTGATTACCACAGGGTTTTTTCCCCCAGTAATCTGTTTATGTAGTCAAT
TACGTTGATAAATCTGTACTTTTTAAATTTTAACAATTGAGACAGGTCTCACTCTGTCACCCATGCTGACTGCAGTAGTGTGATCACAGCTTACTGCAACCTCAACCTCCTGGGCTCAGGCGATCCTC
CCACCTCACCCTCCTCAGTAGCTAGGACTATAGGTACATGCCACCATGCCAAGCTAATTTTTCTGTTTTAGAGATGGTATTTTTTCATGTTGCCCAGGCTGGTTTTATACTCCTAATCTCAAGCCATC
CACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAATGAGTCACGGTGCCTGGAAATTTTGTACATTTAAACCAACAATTTGGTCATGGGTAATCTATGTCCTAATAATTTATTTAAGGATTTTT
ATGTATATCCTCATGAGTGACATTACCTGTACTTTTATTTCATATGCTCATTTGTTGGACGTTGTTATCAAGGTTCCTCTAGCTTCATAAAACGGGTTGGTATGTAAAACCTCTTTTTCCATTCACTG
GAACTCAAGTCTCCTCAAGGCTGTGAGTAATGCAGGGCTAGGCTTTCCCATAATGAGCTTTTCTAGAATGCTTCTCTCAGATTTGGACCCTACTTAAACAGCAGTGACCAAACGGGCAGCTCCAGGTA
CCTATCCCCTCAAACTTTGTGAGGGTCGCGTTCTCTGAAGATGCCTCTTCAATTTGAAAGCTATCTGTTCCTGTTTCTCTGCTGATATTAACTCTCTGTGCACAGAAAGTTAAACGTCACTGGTTATT
AATTTCCCTAGATTTTGATCTGTGCTGTGTGGCTGAGAATGGGCTGACTGACCCTAGATCTGTGTATAATTATGACAATGGCTCCATTTATTTTTAAAATAAGAGGAATTATTATAAAATTCCTATTT
ACTGGATGTGTACTATCTATGAATTACTTCTTTGTGCTAGGTTGTGTACATGTATGACCTCTTTAGATCCTCACAAGATAAGGCAGAATTTTCATGAAATTGATGACTGACTCCAGTAAGAAGCAGAT
TTGGGGGGATTTCAATTTCTAAGCTCAAAGCCCTTGCACTTTTCTCAAAGTAAAGCTTTTGAAAGTGTTAAATGTACACGAACTGATGGTGTATATGATGATTTTAGTTGTAATCTGATGTTTTCTTT
AAAAATTTACATATACAAAAGTGTTTGACTCAAAAGGCTTTGTTCTTCCCTTAAAGGAAGCATCTACCAAAATGTGGCACACAAACCTTGCATGGTGTCTCTAGGGCCTCCTACCCCGCATTTCCCCT
GCTTTTTCTCTTGTTCTGACTGAAAAACAAAGTGCTTTGACTGTGCTGTGACCCAGCCAGCTGCATGTTTACCCAGCATGCTTGAACCCAAGCTGGAGCCTTGAACATAAAGGTGTTTAAGTTGTTGC
TCAAAATATGGAAAGAATCTAGCTCTGGCCTTGAACCAAATCCCTTAAACTCTCCTATAAAACTCCATAACCTGACCCCCTCAGTGCGGATATACCTAGGCATGACATTCTTGTTGCCTGTTGCGAGG
ATGCTTTAGCCTACTCTAAGTTCTCCCAATAAATGCTTTGGACTGATCA

hide sequence

RefSeq Acc Id:

NR_102272

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,599,013 - 49,608,538 (+)	NCBI
HuRef	X	46,835,328 - 46,840,133 (+)	NCBI
CHM1_1	X	49,443,345 - 49,452,925 (+)	NCBI
T2T-CHM13v2.0	X	48,838,585 - 48,924,369 (+)	NCBI

Sequence:

show sequence

ACTGGGCGTCTTCTGCCCGGCCCCTTCGCCCACGTGAAGAACGCCAGGGAGCTGTGAGGCAGTG
CTGTGTGGTTCCTGCCGTCCGGACTCTTTTTCCTCTACTGAGATTCATCTGTGTGAAATATGAGTTGGCGAGGAAGATCGACCTATTATTGGCCTAGACCAAGGCGCTATGTACAGCCTCCTGAAATG
ATTGGGCCTATGCGGCCCGAGCAGTTCAGTGATGAAGTGGAACCAGCAACACCTGAAGAAGGGGAACCAGCAACTCAACGTCAGGATCCTGCAGCTGCTCAGGAGGGAGAGGATGAGGGAGCATCTGC
AGGTCAAGGGCCGAAGCCTGAAGCTGATAGCCAGGAACAGGGTCACCCACAGACTGGGTGTGAGTGTGAAGATGGTCCTGATGGGCAGGAGATGGACCCGCCAAATCCAGAGGAGGTGAAAACGCCTG
AAGAAGAGATGAGGTCTCACTATGTTGCCCAGACTGGGATTCTCTGGCTTTTAATGAACAATTGCTTCTTAAATCTTTCCCCACGGAAACCTTGAGTGACTGAAATATCAAATGGCAAGAGACCGTTT
AGTTCCTATCATCTGTGGCATGTGAAGGGCAATCACAGTGTTAAAAGAAGACATGCTGAAATGTTGCAGGCTGCTCCTATGTTGGAAAATTCTTCATTGAAGTTCTCCCAATAAAGCTTTACAGCCTT
CTGCAAAGAAGTCTTGTGAATCTTTTGTCAATTTTATTTCTAGCTATTTGATGCTGTGAAATGTTTCATTCTTTGCAATTTTGTATTCTATCTCCTTGAGCTGTGTGTAGAGGCATAATTCTCATGTA
TTGATTTTCTATCCAGCAACCTTGTTAAATATGCTTATGAATTTTAAAAGTTTACTTCTAGGTTTTTTCAGTTTTCAACCTACAGAATCATATCATTTTTGAATAAGAACAATTTTGTTTCTGCCTTT
TTTGTTTGTTTTTTCTTTTGTATTTTTCGTAGAGGTGGGATTTTGGCCTGTGTCCTAGGCTTTTTTTGAACTCCTGAGCGCAAGTAATCCACTCTCCTTGGCCTTTCAAAGTGTTGGGATTACAGGCA
TGGGCCACCGTGCTGGTCCTGTTTTTGCCATTTTAAACCCTTTTATTTCCTTTTCTGATTTTATGGCATTGAGCAGATCTACCGGATACAATTGTGATAGTGGAAATTTTTGTGTTATTCCTGATGAG
AAATGGAAAAATTTCAACATTTCACGACAATATTTAGTGTACTTTTTTTGTAGATGGACTTTTTCAGAGTAAGTCAAGCCATTCTGTTTTAGTTTGTTGAGAGTGTTCATTTTGAATATATGTTGAAT
TTCATCAAACACTGACCTGAGTCATCTTAAAACATGTGAATTGAGATTTCTTTGCTACTAAGAAAGTGAGCGGGCACTCTGCTTCATGTTTACTTTTGTCATGTTGCATGAAAAACATTTTGCTTCAT
GTTTGATTCTGTATGTTGAAAACTGAAATCATCTATTGTGATTACCACAGGGTTTTTTCCCCCAGTAATCTGTTTATGTAGTCAATTACGTTGATAAATCTGTACTTTTTAAATTTTAACAATTGAGA
CAGGTCTCACTCTGTCACCCATGCTGACTGCAGTAGTGTGATCACAGCTTACTGCAACCTCAACCTCCTGGGCTCAGGCGATCCTCCCACCTCACCCTCCTCAGTAGCTAGGACTATAGGTACATGCC
ACCATGCCAAGCTAATTTTTCTGTTTTAGAGATGGTATTTTTTCATGTTGCCCAGGCTGGTTTTATACTCCTAATCTCAAGCCATCCACTAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAATGA
GTCACGGTGCCTGGAAATTTTGTACATTTAAACCAACAATTTGGTCATGGGTAATCTATGTCCTAATAATTTATTTAAGGATTTTTATGTATATCCTCATGAGTGACATTACCTGTACTTTTATTTCA
TATGCTCATTTGTTGGACGTTGTTATCAAGGTTCCTCTAGCTTCATAAAACGGGTTGGTATGTAAAACCTCTTTTTCCATTCACTGGAACTCAAGTCTCCTCAAGGCTGTGAGTAATGCAGGGCTAGG
CTTTCCCATAATGAGCTTTTCTAGAATGCTTCTCTCAGATTTGGACCCTACTTAAACAGCAGTGACCAAACGGGCAGCTCCAGGTACCTATCCCCTCAAACTTTGTGAGGGTCGCGTTCTCTGAAGAT
GCCTCTTCAATTTGAAAGCTATCTGTTCCTGTTTCTCTGCTGATATTAACTCTCTGTGCACAGAAAGTTAAACGTCACTGGTTATTAATTTCCCTAGATTTTGATCTGTGCTGTGTGGCTGAGAATGG
GCTGACTGACCCTAGATCTGTGTATAATTATGACAATGGCTCCATTTATTTTTAAAATAAGAGGAATTATTATAAAATTCCTATTTACTGGATGTGTACTATCTATGAATTACTTCTTTGTGCTAGGT
TGTGTACATGTATGACCTCTTTAGATCCTCACAAGATAAGGCAGAATTTTCATGAAATTGATGACTGACTCCAGTAAGAAGCAGATTTGGGGGGATTTCAATTTCTAAGCTCAAAGCCCTTGCACTTT
TCTCAAAGTAAAGCTTTTGAAAGTGTTAAATGTACACGAACTGATGGTGTATATGATGATTTTAGTTGTAATCTGATGTTTTCTTTAAAAATTTACATATACAAAAGTGTTTGACTCAAAAGGCTTTG
TTCTTCCCTTAAAGGAAGCATCTACCAAAATGTGGCACACAAACCTTGCATGGTGTCTCTAGGGCCTCCTACCCCGCATTTCCCCTGCTTTTTCTCTTGTTCTGACTGAAAAACAAAGTGCTTTGACT
GTGCTGTGACCCAGCCAGCTGCATGTTTACCCAGCATGCTTGAACCCAAGCTGGAGCCTTGAACATAAAGGTGTTTAAGTTGTTGCTCAAAATATGGAAAGAATCTAGCTCTGGCCTTGAACCAAATC
CCTTAAACTCTCCTATAAAACTCCATAACCTGACCCCCTCAGTGCGGATATACCTAGGCATGACATTCTTGTTGCCTGTTGCGAGGATGCTTTAGCCTACTCTAAGTTCTCCCAATAAATGCTTTGGA
CTGATCA

hide sequence

RefSeq Acc Id:

XM_011543896 ⟹ XP_011542198

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,599,013 - 49,604,104 (+)	NCBI

Sequence:

show sequence

CCCGCCTCAGTGCGCATGTTCACTGGGCGTCTTCTGCCCGGCCCCTTCGCCCACGTGAAGAACG
CCAGGGAGCTGTGAGGCAGTGCTGTGTGGTTCCTGCCGTCCGGACTCTTTTTCCTCTACTGAGATTCATCTGTGTGAAATATGAGTTGGCGAGGAAGATCGACCTATTATTGGCCTAGACCAAGGCGC
TATGTACAGCCTCCTGAAATGATTGGGCCTATGCGGCCCGAGCAGTTCAGTGATGAAGTGGAACCAGCAACACCTGAAGAAGGGGAACCAGCAACTCAACGTCAGGATCCTGCAGCTGCTCAGGAGGG
AGAGGATGAGGGAGCATCTGCAGGTCAAGGGCCGAAGCCTGAAGCTGATAGCCAGGAACAGGGTCACCCACAGACTGGGTGTGAGTGTGAAGATGGTCCTGATGGGCAGGAGATGGACCCGCCAAATC
CAGAGGAGGTGAAAACGCCTGAAGAAGGTTGTTCCCGAACTCCTGACCTCAGGTGATCCACCTGCCTC

hide sequence


Protein RefSeqs	NP_001035753	(Get FASTA)	NCBI Sequence Viewer
	XP_011542198	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA82744	(Get FASTA)	NCBI Sequence Viewer
	AAH05363	(Get FASTA)	NCBI Sequence Viewer
	AAH36094	(Get FASTA)	NCBI Sequence Viewer
	AAH69470	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371119
	ENSP00000371119.5
GenBank Protein	P0DTW1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001035753 ⟸ NM_001040663
- UniProtKB:	Q13065 (UniProtKB/Swiss-Prot), P0DTW1 (UniProtKB/Swiss-Prot), A8MU85 (UniProtKB/Swiss-Prot), Q6NT33 (UniProtKB/Swiss-Prot), Q13068 (UniProtKB/Swiss-Prot), B7ZVY3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEGQSQC hide sequence

RefSeq Acc Id:	XP_011542198 ⟸ XM_011543896
- Peptide Label:	isoform X1
- UniProtKB:	Q4V326 (UniProtKB/Swiss-Prot), A6NFB1 (UniProtKB/Swiss-Prot), A0A087WUD6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEADSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGCSRTPDLR hide sequence

Ensembl Acc Id:

ENSP00000482230 ⟸ ENST00000610680

Ensembl Acc Id:

ENSP00000484668 ⟸ ENST00000619375

Ensembl Acc Id:

ENSP00000371128 ⟸ ENST00000381709

Protein Domains

GAGE

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P0DTW1-F1-model_v2	AlphaFold	P0DTW1	1-117	view protein structure

RGD ID:

13605310

Promoter ID:

EPDNEW_H28839

Type:

initiation region

Name:

GAGE1_1

Description:

G antigen 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,599,040 - 49,599,100	EPDNEW

Database	Acc Id	Source(s)
COSMIC	GAGE1	COSMIC
Ensembl Genes	ENSG00000205777	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000381700	ENTREZGENE
	ENST00000381700.11	UniProtKB/Swiss-Prot
	ENST00000381709	ENTREZGENE
GTEx	ENSG00000205777	GTEx
HGNC ID	HGNC:4098	ENTREZGENE
Human Proteome Map	GAGE1	Human Proteome Map
InterPro	GAGE	UniProtKB/Swiss-Prot
	GAGE_fam	UniProtKB/Swiss-Prot
KEGG Report	hsa:2543	UniProtKB/Swiss-Prot
NCBI Gene	2543	ENTREZGENE
OMIM	300594	OMIM
PANTHER	G ANTIGEN 1-RELATED	UniProtKB/Swiss-Prot
	PTHR14047	UniProtKB/Swiss-Prot
Pfam	GAGE	UniProtKB/Swiss-Prot
PharmGKB	PA28513	PharmGKB
SMART	GAGE	UniProtKB/Swiss-Prot
UniProt	A0A087WUD6	ENTREZGENE
	A0A158RFV5_HUMAN	UniProtKB/TrEMBL
	A6NFB1	ENTREZGENE
	A8MU85	ENTREZGENE
	B7ZVY3	ENTREZGENE, UniProtKB/TrEMBL
	GAGE1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q05DQ1_HUMAN	UniProtKB/TrEMBL
	Q13065	ENTREZGENE
	Q13068	ENTREZGENE
	Q4V326	ENTREZGENE
	Q6NT33	ENTREZGENE
UniProt Secondary	A8MU85	UniProtKB/Swiss-Prot
	Q13065	UniProtKB/Swiss-Prot
	Q13068	UniProtKB/Swiss-Prot
	Q6NT33	UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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