Advanced Search (OLGA)

Gene: MAGEA9B (MAGE family member A9B) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

MAGEA9B

Name:

MAGE family member A9B

RGD ID:

1642211

HGNC Page

HGNC:31909

Description:

Predicted to enable histone deacetylase binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

cancer/testis antigen 1.9; CT1.9; MAGE-9 antigen; MAGEA9; melanoma antigen family A, 9 -like; melanoma antigen family A, 9B; melanoma antigen family A9B; melanoma-associated antigen 9

RGD Orthologs

Mouse

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	149,581,653 - 149,587,511 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	149,781,930 - 149,787,737 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	X	149,581,653 - 149,587,459 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	148,663,309 - 148,669,116 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	148,471,105 - 148,476,911 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	149,194,719 - 149,200,530 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	137,617,079 - 137,622,890 (-)	NCBI		HuRef
CHM1_1	X	148,624,211 - 148,630,017 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	147,847,407 - 147,853,265 (-)	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)
MAGEA9B	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
MAGEA9B	Human	autosomal hemophilia A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	ClinVar	PMID:31690835
MAGEA9B	Human	factor VIII deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Factor 8 deficiency and congenital	ClinVar	PMID:31690835
MAGEA9B	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
MAGEA9B	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:22679399 more ...

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAGEA9B	Human	5-aza-2'-deoxycytidine	affects expression	EXP		6480464	Decitabine affects the expression of MAGEA9B mRNA	CTD	PMID:18240144
MAGEA9B	Human	benzatropine	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of MAGEA9B protein	CTD	PMID:34122009
MAGEA9B	Human	Cuprizon	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of MAGEA9B protein	CTD	PMID:34122009
MAGEA9B	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of MAGEA9B gene	CTD	PMID:29154799

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)
MAGEA9B	Human	negative regulation of transcription by RNA polymerase II	involved_in	IBA	MGI:97290 more ...	150520179		GO_Central	GO_REF:0000033

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)
MAGEA9B	Human	nucleus	is_active_in	IBA	MGI:1351648 more ...	150520179		GO_Central	GO_REF:0000033

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)
MAGEA9B	Human	histone deacetylase binding	enables	IBA	PANTHER:PTN000200323 more ...	150520179		GO_Central	GO_REF:0000033
MAGEA9B	Human	protein binding	enables	IPI	UniProtKB:Q9UKG1	150520179	PMID:25416956 more ...	IntAct	PMID:25416956 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAGEA9B	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311

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

PMID:7927540	PMID:8575766	PMID:9147653	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16344560	PMID:21873635	PMID:25416956	PMID:26186194	PMID:28514442	PMID:31515488
PMID:33961781

MAGEA9B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	149,581,653 - 149,587,511 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	149,781,930 - 149,787,737 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	X	149,581,653 - 149,587,459 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	148,663,309 - 148,669,116 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	148,471,105 - 148,476,911 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	149,194,719 - 149,200,530 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	137,617,079 - 137,622,890 (-)	NCBI		HuRef
CHM1_1	X	148,624,211 - 148,630,017 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	147,847,407 - 147,853,265 (-)	NCBI		T2T-CHM13v2.0

Magea1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	153,871,515 - 153,872,786 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	153,871,682 - 153,872,789 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	155,088,519 - 155,089,790 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	155,088,686 - 155,089,793 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	151,523,062 - 151,524,333 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	150,429,482 - 150,430,444 (-)	NCBI		MGSCv36	mm8
Celera	X	138,346,986 - 138,348,257 (-)	NCBI		Celera
Cytogenetic Map	X	F3	NCBI
cM Map	X	72.38	NCBI

Variants in MAGEA9B
3 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: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: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: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)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 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 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 Xq27.3-28(chrX:146896288-149621145)x1	copy number loss	See cases [RCV000050631]	ChrX:146896288..149621145 [GRCh38] ChrX:145785498..148510629 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|See cases [RCV000051746]	ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1	copy number loss	See cases [RCV000051748]	ChrX:147151996..150364798 [GRCh38] ChrX:146041206..149283723 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq28(chrX:149429424-149617725)x0	copy number loss	See cases [RCV000051749]	ChrX:149429424..149617725 [GRCh38] ChrX:148318877..148507209 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 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 Xq27.1-28(chrX:139230333-150628474)x1	copy number loss	See cases [RCV000051733]	ChrX:139230333..150628474 [GRCh38] ChrX:138312495..149782550 [GRCh37] ChrX:138140161..149547605 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|See cases [RCV000051747]	ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1	copy number loss	See cases [RCV000051732]	ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3	copy number gain	See cases [RCV000052475]	ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28	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 Xq27.1-28(chrX:140226495-155687381)x2	copy number gain	See cases [RCV000052471]	ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2	copy number gain	See cases [RCV000052474]	ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28	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 Xq28(chrX:149570094-150326225)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]\|See cases [RCV000054285]	ChrX:149570094..150326225 [GRCh38] ChrX:148459544..149245119 [NCBI36] ChrX:Xq28	uncertain significance
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)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 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 Xq27.3-28(chrX:144627217-155434735)x3	copy number gain	See cases [RCV000133725]	ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28	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 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 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	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 Xq27.1-28(chrX:140783390-155611114)x2	copy number gain	See cases [RCV000135881]	ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq28(chrX:149489477-149681127)x2	copy number gain	See cases [RCV000136920]	ChrX:149489477..149681127 [GRCh38] ChrX:148378913..148603594 [NCBI36] ChrX:Xq28	uncertain significance
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 Xq28(chrX:149570094-150079450)x3	copy number gain	See cases [RCV000137090]	ChrX:149570094..150079450 [GRCh38] ChrX:148459544..148998339 [NCBI36] ChrX:Xq28	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1	copy number loss	See cases [RCV000137257]	ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28	pathogenic\|uncertain significance
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 Xq27.3-28(chrX:143553831-156003229)x1	copy number loss	See cases [RCV000138679]	ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28	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 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 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 Xq28(chrX:149383585-149599140)x2	copy number gain	See cases [RCV000140479]	ChrX:149383585..149599140 [GRCh38] ChrX:148465115..148680802 [GRCh37] ChrX:148272846..148488601 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1	copy number loss	See cases [RCV000139724]	ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28	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 Xq28(chrX:149186314-149681127)x2	copy number gain	See cases [RCV000141245]	ChrX:149186314..149681127 [GRCh38] ChrX:148075488..148603594 [NCBI36] ChrX:Xq28	likely benign
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 Xq28(chrX:149176559-149746198)x2	copy number gain	See cases [RCV000141986]	ChrX:149176559..149746198 [GRCh38] ChrX:148258089..148827859 [GRCh37] ChrX:148065733..148635671 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	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 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 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq28(chrX:149467866-149746113)x2	copy number gain	See cases [RCV000142042]	ChrX:149467866..149746113 [GRCh38] ChrX:148549397..148827774 [GRCh37] ChrX:148357302..148635586 [NCBI36] ChrX:Xq28	likely benign\|uncertain significance
GRCh38/hg38 Xq28(chrX:149489072-149650223)x3	copy number gain	See cases [RCV000142043]	ChrX:149489072..149650223 [GRCh38] ChrX:148570603..148731892 [GRCh37] ChrX:148378508..148539697 [NCBI36] ChrX:Xq28	likely benign\|uncertain significance
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2	copy number gain	See cases [RCV000143002]	ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28	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 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: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 Xq28(chrX:149176559-149745979)x3	copy number gain	See cases [RCV000143669]	ChrX:149176559..149745979 [GRCh38] ChrX:148258089..148827640 [GRCh37] ChrX:148065733..148635452 [NCBI36] ChrX:Xq28	likely benign\|uncertain significance
GRCh38/hg38 Xq28(chrX:149045934-149690142)x2	copy number gain	See cases [RCV000143564]	ChrX:149045934..149690142 [GRCh38] ChrX:148127464..148771802 [GRCh37] ChrX:147935169..148570601 [NCBI36] ChrX:Xq28	uncertain significance
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 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:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [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 Xp22.33-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:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [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: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 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:148555685-148713231)x2	copy number gain	See cases [RCV000449428]	ChrX:148555685..148713231 [GRCh37] ChrX:Xq28	uncertain significance
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-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [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 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	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 Xq28(chrX:148257168-148830292)x3	copy number gain	See cases [RCV000510581]	ChrX:148257168..148830292 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	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 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	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:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	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 Xq28(chrX:148015538-148827774)x2	copy number gain	See cases [RCV000510949]	ChrX:148015538..148827774 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq22.1-28(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 Xq27.1-28(chrX:138331745-155233731)x1	copy number loss	not provided [RCV000684397]	ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28	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 Xq27.1-28(chrX:139586015-154774957)	copy number gain	Syndromic X-linked intellectual disability Lubs type [RCV003214133]	ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	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 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq28(chrX:148581931-148762795)x3	copy number gain	not provided [RCV000753879]	ChrX:148581931..148762795 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:148625417-148734633)x2	copy number gain	not provided [RCV000753880]	ChrX:148625417..148734633 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:148643800-148734633)x0	copy number loss	not provided [RCV000753881]	ChrX:148643800..148734633 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:148653534-148734633)x2	copy number gain	not provided [RCV000753883]	ChrX:148653534..148734633 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1	copy number loss	not provided [RCV000753810]	ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1	copy number loss	not provided [RCV000753815]	ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28	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 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:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [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
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
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 Xq27.1-28(chrX:139513270-149234353)x2	copy number gain	not provided [RCV000846424]	ChrX:139513270..149234353 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:148266957-148830292)x3	copy number gain	not provided [RCV000849233]	ChrX:148266957..148830292 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148570603-148832908)x3	copy number gain	not provided [RCV000848582]	ChrX:148570603..148832908 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely 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 Xq28(chrX:148266957-148884123)x2	copy number gain	not provided [RCV000847530]	ChrX:148266957..148884123 [GRCh37] ChrX:Xq28	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 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:148392776-148855992)x4	copy number gain	not provided [RCV001007359]	ChrX:148392776..148855992 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:148644274-148731894)x0	copy number loss	not provided [RCV001007360]	ChrX:148644274..148731894 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq27.1-28(chrX:139484271-149442579)x1	copy number loss	not provided [RCV001537895]	ChrX:139484271..149442579 [GRCh37] ChrX:Xq27.1-28	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 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	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 Xq28(chrX:148538098-148855992)x3	copy number gain	not provided [RCV001260055]	ChrX:148538098..148855992 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:148448248-148855992)x4	copy number gain	not provided [RCV001260056]	ChrX:148448248..148855992 [GRCh37] ChrX:Xq28	likely benign
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
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1	copy number loss	Mucopolysaccharidosis, MPS-II [RCV001733885]	ChrX:145728205..150464413 [GRCh38] ChrX:Xq27.3-28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV001839062]	ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:148644275-148731894)x0	copy number loss	not provided [RCV001827720]	ChrX:148644275..148731894 [GRCh37] ChrX:Xq28	likely benign
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 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	copy number loss	See cases [RCV002292203]	ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1	copy number loss	not provided [RCV002474516]	ChrX:139493806..148855992 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
Single allele	duplication	See cases [RCV003154631]	ChrX:148564275..148798438 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2	copy number gain	not provided [RCV002472498]	ChrX:139504564..149382013 [GRCh37] ChrX:Xq27.1-28	pathogenic
NM_001080790.1(MAGEA9B):c.136G>A (p.Glu46Lys)	single nucleotide variant	not specified [RCV004242204]	ChrX:149583044 [GRCh38] ChrX:148664700 [GRCh37] ChrX:Xq28	uncertain significance
NM_001080790.1(MAGEA9B):c.58G>A (p.Gly20Arg)	single nucleotide variant	not specified [RCV004151115]	ChrX:149583122 [GRCh38] ChrX:148664778 [GRCh37] ChrX:Xq28	likely benign
NM_001080790.1(MAGEA9B):c.20G>A (p.Ser7Asn)	single nucleotide variant	not specified [RCV004240772]	ChrX:149583160 [GRCh38] ChrX:148664816 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148564272-148836483)	copy number gain	See cases [RCV003226895]	ChrX:148564272..148836483 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:148632151-148731894)x0	copy number loss	not provided [RCV003485485]	ChrX:148632151..148731894 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148570605-148827774)x3	copy number gain	not provided [RCV003485330]	ChrX:148570605..148827774 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	copy number loss	not provided [RCV003483936]	ChrX:148598351..154943978 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)	copy number gain	Mucopolysaccharidosis, MPS-II [RCV003448583]	ChrX:143293592..149749234 [GRCh38] ChrX:Xq27.3-28	uncertain significance
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 Xq27.3-28(chrX:144487227-148811395)	copy number gain	not specified [RCV003986281]	ChrX:144487227..148811395 [GRCh37] ChrX:Xq27.3-28	likely pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	copy number loss	not provided [RCV004442761]	ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	copy number loss	See cases [RCV004442781]	ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_54610638)_(154689386_?)dup	duplication	Hereditary factor VIII deficiency disease [RCV004768478]	ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28	uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1	copy number loss	not provided [RCV004819417]	ChrX:145075197..155233731 [GRCh37] ChrX:Xq27.3-28	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 Xq27.1-28(chrX:139333024-155978689)x1	copy number loss	See cases [RCV000133818]	ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:149209021-149681127)x3	copy number gain	See cases [RCV000133756]	ChrX:149209021..149681127 [GRCh38] ChrX:148098221..148603548 [NCBI36] ChrX:Xq28	uncertain significance
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-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 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 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 Xq27.2-28(chrX:141650284-156022206)x1	copy number loss	See cases [RCV000136912]	ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.31-28(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 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 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	copy number gain	See cases [RCV000240530]	ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	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 Xp22.33-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 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-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:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	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 Xq26.3-28(chrX:133944147-155233731)x3	copy number gain	See cases [RCV000511034]	ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	copy number loss	not provided [RCV000684401]	ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	copy number gain	not provided [RCV000684402]	ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28	pathogenic
GRCh37/hg19 Xq28(chrX:147680249-149682911)x2	copy number gain	not provided [RCV000684408]	ChrX:147680249..149682911 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148566841-148875584)x3	copy number gain	not provided [RCV000684410]	ChrX:148566841..148875584 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:148581602-148827774)x2	copy number gain	not provided [RCV000684411]	ChrX:148581602..148827774 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:148639911-149404134)x2	copy number gain	not provided [RCV000684412]	ChrX:148639911..149404134 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	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 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	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 Xq28(chrX:148570607-148827859)x2	copy number gain	not provided [RCV000846614]	ChrX:148570607..148827859 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
GRCh37/hg19 Xq28(chrX:148267375-148827859)x3	copy number gain	not provided [RCV001007357]	ChrX:148267375..148827859 [GRCh37] ChrX:Xq28	likely benign
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 Xq27.3-28(chrX:146752853-150192253)	copy number loss	not specified [RCV002053195]	ChrX:146752853..150192253 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	346
Count of miRNA genes:	216
Interacting mature miRNAs:	224
Transcripts:	ENST00000243314
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.

GDB:581728

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	148,867,707 - 148,868,172	UniSTS	GRCh37
GRCh37	X	148,664,536 - 148,665,001	UniSTS	GRCh37
Build 36	X	148,472,332 - 148,472,797	RGD	NCBI36
Celera	X	149,198,838 - 149,199,303	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	137,618,306 - 137,618,771	UniSTS

MAGEA9_8454

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	148,868,720 - 148,869,554	UniSTS	GRCh37
GRCh37	X	148,663,154 - 148,663,988	UniSTS	GRCh37
Build 36	X	148,470,950 - 148,471,784	RGD	NCBI36
Celera	X	149,199,851 - 149,200,685	RGD
HuRef	X	137,616,924 - 137,617,758	UniSTS

SHGC-35638

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	148,868,888 - 148,869,101	UniSTS	GRCh37
GRCh37	X	148,663,607 - 148,663,820	UniSTS	GRCh37
Build 36	X	148,471,403 - 148,471,616	RGD	NCBI36
Celera	X	149,200,019 - 149,200,232	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	137,617,377 - 137,617,590	UniSTS
Stanford-G3 RH Map	X	4267.0	UniSTS
GeneMap99-GB4 RH Map	X	347.32	UniSTS
Whitehead-RH Map	X	312.6	UniSTS
GeneMap99-G3 RH Map	X	4414.0	UniSTS

SGC35637

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	X	q28	UniSTS
GeneMap99-GB4 RH Map	X	345.15	UniSTS
Whitehead-RH Map	X	312.6	UniSTS
NCBI RH Map	X	733.4	UniSTS

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


RefSeq Transcripts	NM_001080790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005278192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005278193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC016940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC233288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC244197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY310325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB015621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000243314 ⟹ ENSP00000243314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	149,781,930 - 149,787,737 (+)	Ensembl

Ensembl Acc Id:

ENST00000593349 ⟹ ENSP00000472733

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	149,582,593 - 149,587,444 (-)	Ensembl

Ensembl Acc Id:

ENST00000594744 ⟹ ENSP00000470594

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	149,582,888 - 149,586,883 (-)	Ensembl

Ensembl Acc Id:

ENST00000595065 ⟹ ENSP00000471017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	149,581,653 - 149,587,459 (-)	Ensembl

Ensembl Acc Id:

ENST00000602102 ⟹ ENSP00000469924

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	149,582,838 - 149,587,453 (-)	Ensembl

RefSeq Acc Id:

NM_001080790 ⟹ NP_001074259

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	149,581,653 - 149,587,459 (-)	NCBI
T2T-CHM13v2.0	X	147,847,407 - 147,853,213 (-)	NCBI

Sequence:

show sequence

GTGCGCACTGGGGGTCAGAGAGAAGGGAGAGGCCTCCTTCTGAGGGGCGGCTTGATACCGGTGGAGGAGCTCCAGGAAGCAGGCAGGCCTTGGTCTGAGACAGTGTCCTCAGGTCGCAGAGCAGAGGA
GACCCAGGCAGTGTCAGCAGTGAAGGTTCTCGGGACAGGCTAACCAGGAGGACAGGAGCCCCAAGAGGCCCCAGAGCAGCACTGACGAAGACCTGCCTGTGGGTCTCCATCGCCCAGCTCCTGCCCAC
GCTCCTGACTGCTGCCCTGACCAGAGTCATCATGTCTCTCGAGCAGAGGAGTCCGCACTGCAAGCCTGATGAAGACCTTGAAGCCCAAGGAGAGGACTTGGGCCTGATGGGTGCACAGGAACCCACAG
GCGAGGAGGAGGAGACTACCTCCTCCTCTGACAGCAAGGAGGAGGAGGTGTCTGCTGCTGGGTCATCAAGTCCTCCCCAGAGTCCTCAGGGAGGCGCTTCCTCCTCCATTTCCGTCTACTACACTTTA
TGGAGCCAATTCGATGAGGGCTCCAGCAGTCAAGAAGAGGAAGAGCCAAGCTCCTCGGTCGACCCAGCTCAGCTGGAGTTCATGTTCCAAGAAGCACTGAAATTGAAGGTGGCTGAGTTGGTTCATTT
CCTGCTCCACAAATATCGAGTCAAGGAGCCGGTCACAAAGGCAGAAATGCTGGAGAGCGTCATCAAAAATTACAAGCGCTACTTTCCTGTGATCTTCGGCAAAGCCTCCGAGTTCATGCAGGTGATCT
TTGGCACTGATGTGAAGGAGGTGGACCCCGCCGGCCACTCCTACATCCTTGTCACTGCTCTTGGCCTCTCGTGCGATAGCATGCTGGGTGATGGTCATAGCATGCCCAAGGCCGCCCTCCTGATCATT
GTCCTGGGTGTGATCCTAACCAAAGACAACTGCGCCCCTGAAGAGGTTATCTGGGAAGCGTTGAGTGTGATGGGGGTGTATGTTGGGAAGGAGCACATGTTCTACGGGGAGCCCAGGAAGCTGCTCAC
CCAAGATTGGGTGCAGGAAAACTACCTGGAGTACCGGCAGGTGCCCGGCAGTGATCCTGCGCACTACGAGTTCCTGTGGGGTTCCAAGGCCCACGCTGAAACCAGCTATGAGAAGGTCATAAATTATT
TGGTCATGCTCAATGCAAGAGAGCCCATCTGCTACCCATCCCTTTATGAAGAGGTTTTGGGAGAGGAGCAAGAGGGAGTCTGAGCACCAGCCGCAGCCGGGGCCAAAGTTTGTGGGGTCAGGGCCCCA
TCCAGCAGCTGCCCTGCCCCATGTGACATGAGGCCCATTCTTGGCTCTGTGTTTGAAGAGAGCAATCAGTGTTCTCAGTGGCAGTGGGTGGAAGTGAGCACACTGTATGTCATCTCTGGGTTCCTTGT
CTATTGGGTGATTTGGAGATTTATCCTTGCTCCCTTTTGGAATTGTTCAAATGTTCTTTTAATGGTCAGTTTAATGAACTTCACCATCGAAGTTAATGAATGACAGTAGTCACACATATTGCTGTTTA
TGTTATTTAGGAGTAAGATTCTTGCTTTTGAGTCACATGGGGAAATCCCTGTTATTTTGTGAATTGGGACAAGATAACATAGCAGAGGAATTAATAATTTTTTTGAAACTTGAACTTAGCAGCAAAAT
AGAGCTCATAAAGAAATAGTGAAATGAAAATGTAGTTAATTCTTGCCTTATACCTCTTTCTCTCTCCTGTAAAATTAAAATATATACATGTATACCTGGATTTGCTTGGCTTCTTTGAGCATGTAAGA
GAAATAAAAATTGAAAGAATAA

hide sequence

RefSeq Acc Id:

XM_005278192 ⟹ XP_005278249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	149,581,653 - 149,586,905 (-)	NCBI

Sequence:

show sequence

AGAGAGTAGCGGGGGCCTCGCTGTGAGGGGCGGGTCGATATCGGTGGAGGGAAGCGGGCCCAGG
CTCTGTGAGGAGGCAAGGAGCTCCAGGAAGCAGGCAGGCCTTGGTCTGAGACAGTGTCCTCAGGTCGCAGAGCAGAGGAGACCCAGGCAGTGTCAGCAGTGAAGGTTCTCGGGACAGGCTAACCAGGA
GGACAGGAGCCCCAAGAGGCCCCAGAGCAGCACTGACGAAGACCTGCCTGTGGGTCTCCATCGCCCAGCTCCTGCCCACGCTCCTGACTGCTGCCCTGACCAGAGTCATCATGTCTCTCGAGCAGAGG
AGTCCGCACTGCAAGCCTGATGAAGACCTTGAAGCCCAAGGAGAGGACTTGGGCCTGATGGGTGCACAGGAACCCACAGGCGAGGAGGAGGAGACTACCTCCTCCTCTGACAGCAAGGAGGAGGAGGT
GTCTGCTGCTGGGTCATCAAGTCCTCCCCAGAGTCCTCAGGGAGGCGCTTCCTCCTCCATTTCCGTCTACTACACTTTATGGAGCCAATTCGATGAGGGCTCCAGCAGTCAAGAAGAGGAAGAGCCAA
GCTCCTCGGTCGACCCAGCTCAGCTGGAGTTCATGTTCCAAGAAGCACTGAAATTGAAGGTGGCTGAGTTGGTTCATTTCCTGCTCCACAAATATCGAGTCAAGGAGCCGGTCACAAAGGCAGAAATG
CTGGAGAGCGTCATCAAAAATTACAAGCGCTACTTTCCTGTGATCTTCGGCAAAGCCTCCGAGTTCATGCAGGTGATCTTTGGCACTGATGTGAAGGAGGTGGACCCCGCCGGCCACTCCTACATCCT
TGTCACTGCTCTTGGCCTCTCGTGCGATAGCATGCTGGGTGATGGTCATAGCATGCCCAAGGCCGCCCTCCTGATCATTGTCCTGGGTGTGATCCTAACCAAAGACAACTGCGCCCCTGAAGAGGTTA
TCTGGGAAGCGTTGAGTGTGATGGGGGTGTATGTTGGGAAGGAGCACATGTTCTACGGGGAGCCCAGGAAGCTGCTCACCCAAGATTGGGTGCAGGAAAACTACCTGGAGTACCGGCAGGTGCCCGGC
AGTGATCCTGCGCACTACGAGTTCCTGTGGGGTTCCAAGGCCCACGCTGAAACCAGCTATGAGAAGGTCATAAATTATTTGGTCATGCTCAATGCAAGAGAGCCCATCTGCTACCCATCCCTTTATGA
AGAGGTTTTGGGAGAGGAGCAAGAGGGAGTCTGAGCACCAGCCGCAGCCGGGGCCAAAGTTTGTGGGGTCAGGGCCCCATCCAGCAGCTGCCCTGCCCCATGTGACATGAGGCCCATTCTTGGCTCTG
TGTTTGAAGAGAGCAATCAGTGTTCTCAGTGGCAGTGGGTGGAAGTGAGCACACTGTATGTCATCTCTGGGTTCCTTGTCTATTGGGTGATTTGGAGATTTATCCTTGCTCCCTTTTGGAATTGTTCA
AATGTTCTTTTAATGGTCAGTTTAATGAACTTCACCATCGAAGTTAATGAATGACAGTAGTCACACATATTGCTGTTTATGTTATTTAGGAGTAAGATTCTTGCTTTTGAGTCACATGGGGAAATCCC
TGTTATTTTGTGAATTGGGACAAGATAACATAGCAGAGGAATTAATAATTTTTTTGAAACTTGAACTTAGCAGCAAAATAGAGCTCATAAAGAAATAGTGAAATGAAAATGTAGTTAATTCTTGCCTT
ATACCTCTTTCTCTCTCCTGTAAAATTAAAATATATACATGTATACCTGGATTTGCTTGGCTTCTTTGAGCATGTAAGAGAAATAAAAATTGAAAGAATAA

hide sequence

RefSeq Acc Id:

XM_005278193 ⟹ XP_005278250

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	149,581,653 - 149,587,459 (-)	NCBI

Sequence:

show sequence

GTCACTGACGTGCGCACTGGGGGTCAGAGAGAAGGGAGAGGCCTCCTTCTGAGGGGCGGCTTGATACCGGTGGAGGTTCTCGGGACAGGCTAACCAGGAGGACAGGAGCCCCAAGAGGCCCCAGAGCA
GCACTGACGAAGACCTGCCTGTGGGTCTCCATCGCCCAGCTCCTGCCCACGCTCCTGACTGCTGCCCTGACCAGAGTCATCATGTCTCTCGAGCAGAGGAGTCCGCACTGCAAGCCTGATGAAGACCT
TGAAGCCCAAGGAGAGGACTTGGGCCTGATGGGTGCACAGGAACCCACAGGCGAGGAGGAGGAGACTACCTCCTCCTCTGACAGCAAGGAGGAGGAGGTGTCTGCTGCTGGGTCATCAAGTCCTCCCC
AGAGTCCTCAGGGAGGCGCTTCCTCCTCCATTTCCGTCTACTACACTTTATGGAGCCAATTCGATGAGGGCTCCAGCAGTCAAGAAGAGGAAGAGCCAAGCTCCTCGGTCGACCCAGCTCAGCTGGAG
TTCATGTTCCAAGAAGCACTGAAATTGAAGGTGGCTGAGTTGGTTCATTTCCTGCTCCACAAATATCGAGTCAAGGAGCCGGTCACAAAGGCAGAAATGCTGGAGAGCGTCATCAAAAATTACAAGCG
CTACTTTCCTGTGATCTTCGGCAAAGCCTCCGAGTTCATGCAGGTGATCTTTGGCACTGATGTGAAGGAGGTGGACCCCGCCGGCCACTCCTACATCCTTGTCACTGCTCTTGGCCTCTCGTGCGATA
GCATGCTGGGTGATGGTCATAGCATGCCCAAGGCCGCCCTCCTGATCATTGTCCTGGGTGTGATCCTAACCAAAGACAACTGCGCCCCTGAAGAGGTTATCTGGGAAGCGTTGAGTGTGATGGGGGTG
TATGTTGGGAAGGAGCACATGTTCTACGGGGAGCCCAGGAAGCTGCTCACCCAAGATTGGGTGCAGGAAAACTACCTGGAGTACCGGCAGGTGCCCGGCAGTGATCCTGCGCACTACGAGTTCCTGTG
GGGTTCCAAGGCCCACGCTGAAACCAGCTATGAGAAGGTCATAAATTATTTGGTCATGCTCAATGCAAGAGAGCCCATCTGCTACCCATCCCTTTATGAAGAGGTTTTGGGAGAGGAGCAAGAGGGAG
TCTGAGCACCAGCCGCAGCCGGGGCCAAAGTTTGTGGGGTCAGGGCCCCATCCAGCAGCTGCCCTGCCCCATGTGACATGAGGCCCATTCTTGGCTCTGTGTTTGAAGAGAGCAATCAGTGTTCTCAG
TGGCAGTGGGTGGAAGTGAGCACACTGTATGTCATCTCTGGGTTCCTTGTCTATTGGGTGATTTGGAGATTTATCCTTGCTCCCTTTTGGAATTGTTCAAATGTTCTTTTAATGGTCAGTTTAATGAA
CTTCACCATCGAAGTTAATGAATGACAGTAGTCACACATATTGCTGTTTATGTTATTTAGGAGTAAGATTCTTGCTTTTGAGTCACATGGGGAAATCCCTGTTATTTTGTGAATTGGGACAAGATAAC
ATAGCAGAGGAATTAATAATTTTTTTGAAACTTGAACTTAGCAGCAAAATAGAGCTCATAAAGAAATAGTGAAATGAAAATGTAGTTAATTCTTGCCTTATACCTCTTTCTCTCTCCTGTAAAATTAA
AATATATACATGTATACCTGGATTTGCTTGGCTTCTTTGAGCATGTAAGAGAAATAAAAATTGAAAGAATAA

hide sequence

RefSeq Acc Id:

XM_024452436 ⟹ XP_024308204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	149,581,653 - 149,587,511 (-)	NCBI

Sequence:

show sequence

GGGAGAGGCCTCCTTCTGAGGGGCGGCTTGATACCGGTGGAGGTAAGCTGGCCGAGGCTCTGTGAGGAGTCAAGGAGCTCCAGGAAGCAGGCAGGCCTTGGTCTGAGACAGTGTCCTCAGGTCGCAGA
GCAGAGGAGACCCAGGCAGTGTCAGCAGTGAAGGTTCTCGGGACAGGCTAACCAGGAGGACAGGAGCCCCAAGAGGCCCCAGAGCAGCACTGACGAAGACCTGCCTGTGGGTCTCCATCGCCCAGCTC
CTGCCCACGCTCCTGACTGCTGCCCTGACCAGAGTCATCATGTCTCTCGAGCAGAGGAGTCCGCACTGCAAGCCTGATGAAGACCTTGAAGCCCAAGGAGAGGACTTGGGCCTGATGGGTGCACAGGA
ACCCACAGGCGAGGAGGAGGAGACTACCTCCTCCTCTGACAGCAAGGAGGAGGAGGTGTCTGCTGCTGGGTCATCAAGTCCTCCCCAGAGTCCTCAGGGAGGCGCTTCCTCCTCCATTTCCGTCTACT
ACACTTTATGGAGCCAATTCGATGAGGGCTCCAGCAGTCAAGAAGAGGAAGAGCCAAGCTCCTCGGTCGACCCAGCTCAGCTGGAGTTCATGTTCCAAGAAGCACTGAAATTGAAGGTGGCTGAGTTG
GTTCATTTCCTGCTCCACAAATATCGAGTCAAGGAGCCGGTCACAAAGGCAGAAATGCTGGAGAGCGTCATCAAAAATTACAAGCGCTACTTTCCTGTGATCTTCGGCAAAGCCTCCGAGTTCATGCA
GGTGATCTTTGGCACTGATGTGAAGGAGGTGGACCCCGCCGGCCACTCCTACATCCTTGTCACTGCTCTTGGCCTCTCGTGCGATAGCATGCTGGGTGATGGTCATAGCATGCCCAAGGCCGCCCTCC
TGATCATTGTCCTGGGTGTGATCCTAACCAAAGACAACTGCGCCCCTGAAGAGGTTATCTGGGAAGCGTTGAGTGTGATGGGGGTGTATGTTGGGAAGGAGCACATGTTCTACGGGGAGCCCAGGAAG
CTGCTCACCCAAGATTGGGTGCAGGAAAACTACCTGGAGTACCGGCAGGTGCCCGGCAGTGATCCTGCGCACTACGAGTTCCTGTGGGGTTCCAAGGCCCACGCTGAAACCAGCTATGAGAAGGTCAT
AAATTATTTGGTCATGCTCAATGCAAGAGAGCCCATCTGCTACCCATCCCTTTATGAAGAGGTTTTGGGAGAGGAGCAAGAGGGAGTCTGAGCACCAGCCGCAGCCGGGGCCAAAGTTTGTGGGGTCA
GGGCCCCATCCAGCAGCTGCCCTGCCCCATGTGACATGAGGCCCATTCTTGGCTCTGTGTTTGAAGAGAGCAATCAGTGTTCTCAGTGGCAGTGGGTGGAAGTGAGCACACTGTATGTCATCTCTGGG
TTCCTTGTCTATTGGGTGATTTGGAGATTTATCCTTGCTCCCTTTTGGAATTGTTCAAATGTTCTTTTAATGGTCAGTTTAATGAACTTCACCATCGAAGTTAATGAATGACAGTAGTCACACATATT
GCTGTTTATGTTATTTAGGAGTAAGATTCTTGCTTTTGAGTCACATGGGGAAATCCCTGTTATTTTGTGAATTGGGACAAGATAACATAGCAGAGGAATTAATAATTTTTTTGAAACTTGAACTTAGC
AGCAAAATAGAGCTCATAAAGAAATAGTGAAATGAAAATGTAGTTAATTCTTGCCTTATACCTCTTTCTCTCTCCTGTAAAATTAAAATATATACATGTATACCTGGATTTGCTTGGCTTCTTTGAGC
ATGTAAGAGAAATAAAAATTGAAAGAATAA

hide sequence

RefSeq Acc Id:

XM_024452437 ⟹ XP_024308205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	149,581,653 - 149,586,905 (-)	NCBI

Sequence:

show sequence

CAGTGACTCCCACACTGGGGGTCAGAGAGTAGCGGGGGCCTCGCTGTGAGGGGCGGGTCGATAT
CGGTGGAGGGAAGCGGGCCCAGGCTCTGTGAGGAGGCAAGGTTCTCGGGACAGGCTAACCAGGAGGACAGGAGCCCCAAGAGGCCCCAGAGCAGCACTGACGAAGACCTGCCTGTGGGTCTCCATCGC
CCAGCTCCTGCCCACGCTCCTGACTGCTGCCCTGACCAGAGTCATCATGTCTCTCGAGCAGAGGAGTCCGCACTGCAAGCCTGATGAAGACCTTGAAGCCCAAGGAGAGGACTTGGGCCTGATGGGTG
CACAGGAACCCACAGGCGAGGAGGAGGAGACTACCTCCTCCTCTGACAGCAAGGAGGAGGAGGTGTCTGCTGCTGGGTCATCAAGTCCTCCCCAGAGTCCTCAGGGAGGCGCTTCCTCCTCCATTTCC
GTCTACTACACTTTATGGAGCCAATTCGATGAGGGCTCCAGCAGTCAAGAAGAGGAAGAGCCAAGCTCCTCGGTCGACCCAGCTCAGCTGGAGTTCATGTTCCAAGAAGCACTGAAATTGAAGGTGGC
TGAGTTGGTTCATTTCCTGCTCCACAAATATCGAGTCAAGGAGCCGGTCACAAAGGCAGAAATGCTGGAGAGCGTCATCAAAAATTACAAGCGCTACTTTCCTGTGATCTTCGGCAAAGCCTCCGAGT
TCATGCAGGTGATCTTTGGCACTGATGTGAAGGAGGTGGACCCCGCCGGCCACTCCTACATCCTTGTCACTGCTCTTGGCCTCTCGTGCGATAGCATGCTGGGTGATGGTCATAGCATGCCCAAGGCC
GCCCTCCTGATCATTGTCCTGGGTGTGATCCTAACCAAAGACAACTGCGCCCCTGAAGAGGTTATCTGGGAAGCGTTGAGTGTGATGGGGGTGTATGTTGGGAAGGAGCACATGTTCTACGGGGAGCC
CAGGAAGCTGCTCACCCAAGATTGGGTGCAGGAAAACTACCTGGAGTACCGGCAGGTGCCCGGCAGTGATCCTGCGCACTACGAGTTCCTGTGGGGTTCCAAGGCCCACGCTGAAACCAGCTATGAGA
AGGTCATAAATTATTTGGTCATGCTCAATGCAAGAGAGCCCATCTGCTACCCATCCCTTTATGAAGAGGTTTTGGGAGAGGAGCAAGAGGGAGTCTGAGCACCAGCCGCAGCCGGGGCCAAAGTTTGT
GGGGTCAGGGCCCCATCCAGCAGCTGCCCTGCCCCATGTGACATGAGGCCCATTCTTGGCTCTGTGTTTGAAGAGAGCAATCAGTGTTCTCAGTGGCAGTGGGTGGAAGTGAGCACACTGTATGTCAT
CTCTGGGTTCCTTGTCTATTGGGTGATTTGGAGATTTATCCTTGCTCCCTTTTGGAATTGTTCAAATGTTCTTTTAATGGTCAGTTTAATGAACTTCACCATCGAAGTTAATGAATGACAGTAGTCAC
ACATATTGCTGTTTATGTTATTTAGGAGTAAGATTCTTGCTTTTGAGTCACATGGGGAAATCCCTGTTATTTTGTGAATTGGGACAAGATAACATAGCAGAGGAATTAATAATTTTTTTGAAACTTGA
ACTTAGCAGCAAAATAGAGCTCATAAAGAAATAGTGAAATGAAAATGTAGTTAATTCTTGCCTTATACCTCTTTCTCTCTCCTGTAAAATTAAAATATATACATGTATACCTGGATTTGCTTGGCTTC
TTTGAGCATGTAAGAGAAATAAAAATTGAAAGAATAA

hide sequence

RefSeq Acc Id:

XM_054327680 ⟹ XP_054183655

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	147,847,407 - 147,853,265 (-)	NCBI

RefSeq Acc Id:

XM_054327681 ⟹ XP_054183656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	147,847,407 - 147,852,659 (-)	NCBI

RefSeq Acc Id:

XM_054327682 ⟹ XP_054183657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	147,847,407 - 147,853,213 (-)	NCBI

RefSeq Acc Id:

XM_054327683 ⟹ XP_054183658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	147,847,407 - 147,852,659 (-)	NCBI


Protein RefSeqs	NP_001074259	(Get FASTA)	NCBI Sequence Viewer
	XP_005278249	(Get FASTA)	NCBI Sequence Viewer
	XP_005278250	(Get FASTA)	NCBI Sequence Viewer
	XP_024308204	(Get FASTA)	NCBI Sequence Viewer
	XP_024308205	(Get FASTA)	NCBI Sequence Viewer
	XP_054183655	(Get FASTA)	NCBI Sequence Viewer
	XP_054183656	(Get FASTA)	NCBI Sequence Viewer
	XP_054183657	(Get FASTA)	NCBI Sequence Viewer
	XP_054183658	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH02351	(Get FASTA)	NCBI Sequence Viewer
	AAP82171	(Get FASTA)	NCBI Sequence Viewer
	BAF84961	(Get FASTA)	NCBI Sequence Viewer
	BAG36126	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000243314.5
	ENSP00000471017
	ENSP00000471017.1
GenBank Protein	P43362	(Get FASTA)	NCBI Sequence Viewer

Ensembl Acc Id:

ENSP00000470594 ⟸ ENST00000594744

Ensembl Acc Id:

ENSP00000471017 ⟸ ENST00000595065

Ensembl Acc Id:

ENSP00000469924 ⟸ ENST00000602102

Ensembl Acc Id:

ENSP00000472733 ⟸ ENST00000593349

Ensembl Acc Id:

ENSP00000243314 ⟸ ENST00000243314

Protein Domains

MAGE Melanoma associated antigen N-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P43362-F1-model_v2	AlphaFold	P43362	1-315	view protein structure

RGD ID:

13628310

Promoter ID:

EPDNEW_H29430

Type:

initiation region

Name:

MAGEA9B_1

Description:

MAGE family member A9B

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	149,587,443 - 149,587,503	EPDNEW

Database	Acc Id	Source(s)
COSMIC	MAGEA9B	COSMIC
Ensembl Genes	ENSG00000123584	Ensembl, UniProtKB/Swiss-Prot
	ENSG00000267978	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000243314.5	UniProtKB/Swiss-Prot
	ENST00000595065	ENTREZGENE
	ENST00000595065.6	UniProtKB/Swiss-Prot
Gene3D-CATH	MAGE homology domain, winged helix WH1 motif	UniProtKB/Swiss-Prot
	MAGE homology domain, winged helix WH2 motif	UniProtKB/Swiss-Prot
GTEx	ENSG00000123584	GTEx
	ENSG00000267978	GTEx
HGNC ID	HGNC:31909	ENTREZGENE
Human Proteome Map	MAGEA9B	Human Proteome Map
InterPro	MAGE	UniProtKB/Swiss-Prot
	MAGE_N	UniProtKB/Swiss-Prot
	MAGE_WH1	UniProtKB/Swiss-Prot
	MAGE_WH2	UniProtKB/Swiss-Prot
	MHD_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:4108	UniProtKB/Swiss-Prot
	hsa:728269	UniProtKB/Swiss-Prot
NCBI Gene	MAGEA9B	ENTREZGENE
OMIM	300764	OMIM
PANTHER	MELANOMA-ASSOCIATED ANTIGEN 9	UniProtKB/Swiss-Prot
	MELANOMA-ASSOCIATED ANTIGEN MAGE ANTIGEN	UniProtKB/Swiss-Prot
Pfam	MAGE	UniProtKB/Swiss-Prot
	MAGE_N	UniProtKB/Swiss-Prot
PharmGKB	PA145148473	PharmGKB
PROSITE	MAGE	UniProtKB/Swiss-Prot
SMART	MAGE	UniProtKB/Swiss-Prot
	MAGE_N	UniProtKB/Swiss-Prot
UniProt	A0A075B794_HUMAN	UniProtKB/TrEMBL
	A0A075B798_HUMAN	UniProtKB/TrEMBL
	A0A075B7A9_HUMAN	UniProtKB/TrEMBL
	A8K8A7	ENTREZGENE
	MAGA9_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q7Z5K4	ENTREZGENE
	Q92910	ENTREZGENE
UniProt Secondary	A8K8A7	UniProtKB/Swiss-Prot
	Q7Z5K4	UniProtKB/Swiss-Prot
	Q92910	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	MAGEA9B	MAGE family member A9B	MAGEA9B	melanoma antigen family A9B	Symbol and/or name change	5135510	APPROVED
2015-02-10	MAGEA9B	melanoma antigen family A9B	MAGEA9B	melanoma antigen family A, 9B	Symbol and/or name change	5135510	APPROVED

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
		Excel (Download)

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar