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Gene: MMGT1 (membrane magnesium transporter 1) Homo sapiens

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Symbol:

MMGT1

Name:

membrane magnesium transporter 1

RGD ID:

1343591

HGNC Page

HGNC:28100

Description:

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

EMC5; ER membrane protein complex subunit 5; TMEM32; transmembrane protein 32

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mmgt1 (membrane magnesium transporter 1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mmgt1 (membrane magnesium transporter 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mmgt1 (membrane magnesium transporter 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MMGT1 (membrane magnesium transporter 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MMGT1 (membrane magnesium transporter 1)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mmgt1 (membrane magnesium transporter 1)	NCBI	Ortholog
Sus scrofa (pig):	MMGT1 (membrane magnesium transporter 1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MMGT1 (membrane magnesium transporter 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mmgt1 (membrane magnesium transporter 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Mmgt2 (membrane magnesium transporter 2)	HGNC	EggNOG, Panther, Treefam
Rattus norvegicus (Norway rat):	Mmgt2 (membrane magnesium transporter 2)	HGNC	OrthoDB, Panther
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mmgt1 (membrane magnesium transporter 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mmgt1 (membrane magnesium transporter 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	mmgt1 (membrane magnesium transporter 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG15168	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	emc-5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	mmgt1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	mmgt1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	mmgt1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	135,960,588 - 135,973,988 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	135,960,588 - 135,974,029 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	135,042,747 - 135,056,147 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	134,871,897 - 134,883,800 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	134,769,750 - 134,781,654	NCBI
Celera	X	135,404,702 - 135,416,609 (-)	NCBI		Celera
Cytogenetic Map	X	q26.3	NCBI
HuRef	X	124,318,172 - 124,329,831 (-)	NCBI		HuRef
CHM1_1	X	134,955,293 - 134,967,204 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	134,269,310 - 134,282,721 (-)	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)
MMGT1	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
MMGT1	Human	autosomal hemophilia A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	ClinVar	PMID:31690835
MMGT1	Human	factor VIII deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Factor 8 deficiency and congenital	ClinVar	PMID:31690835
MMGT1	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

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MMGT1	Human	1,2-dimethylhydrazine	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of MMGT1 mRNA	CTD	PMID:22206623
MMGT1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in decreased expression of MMGT1 mRNA]	CTD	PMID:22206623
MMGT1	Human	17alpha-ethynylestradiol	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Ethinyl Estradiol results in increased expression of MMGT1 mRNA	CTD	PMID:29097150
MMGT1	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:27291303 more ...
MMGT1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Mmgt1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of MMGT1 mRNA	CTD	PMID:19465110 and PMID:28213091
MMGT1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of MMGT1 mRNA	CTD	PMID:33387578
MMGT1	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of MMGT1 mRNA	CTD	PMID:25975270
MMGT1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Mmgt1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of MMGT1 mRNA	CTD	PMID:21570461
MMGT1	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	Mmgt1 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of MMGT1 mRNA	CTD	PMID:20188158
MMGT1	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of MMGT1 mRNA	CTD	PMID:28628672
MMGT1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of MMGT1 mRNA	CTD	PMID:33167477
MMGT1	Human	benzo[a]pyrene	increases expression	ISO	Mmgt1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of MMGT1 mRNA	CTD	PMID:22228805
MMGT1	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of MMGT1 3' UTR	CTD	PMID:27901495
MMGT1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of MMGT1 exon and Benzo(a)pyrene affects the methylation of MMGT1 promoter	CTD	PMID:27901495
MMGT1	Human	bisphenol A	affects expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	bisphenol A affects the expression of MMGT1 mRNA	CTD	PMID:25181051
MMGT1	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of MMGT1 mRNA	CTD	PMID:28628672
MMGT1	Human	bisphenol F	increases expression	ISO	Mmgt1 (Mus musculus)	6480464	bisphenol F results in increased expression of MMGT1 mRNA	CTD	PMID:38685157
MMGT1	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of MMGT1 protein	CTD	PMID:35688186
MMGT1	Human	carbon nanotube	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	Nanotubes and Carbon results in decreased expression of MMGT1 mRNA	CTD	PMID:25554681
MMGT1	Human	choline	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MMGT1 gene	CTD	PMID:20938992
MMGT1	Human	chrysene	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	chrysene results in decreased expression of MMGT1 mRNA	CTD	PMID:26377693
MMGT1	Human	Cuprizon	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of MMGT1 mRNA	CTD	PMID:26577399
MMGT1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of MMGT1 mRNA	CTD	PMID:25562108
MMGT1	Human	decabromodiphenyl ether	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	decabromobiphenyl ether results in increased expression of MMGT1 mRNA	CTD	PMID:32679240
MMGT1	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of MMGT1 mRNA	CTD	PMID:28628672
MMGT1	Human	dibenzo[a,l]pyrene	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	dibenzo(a and l)pyrene results in decreased expression of MMGT1 mRNA	CTD	PMID:25908611
MMGT1	Human	diethylstilbestrol	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Diethylstilbestrol results in decreased expression of MMGT1 mRNA	CTD	PMID:36653537
MMGT1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of MMGT1 mRNA	CTD	PMID:29803840
MMGT1	Human	flutamide	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Flutamide results in increased expression of MMGT1 mRNA	CTD	PMID:24136188
MMGT1	Human	folic acid	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MMGT1 gene more ...	CTD	PMID:20938992 and PMID:22206623
MMGT1	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of MMGT1 protein	CTD	PMID:37730182
MMGT1	Human	gentamycin	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of MMGT1 mRNA	CTD	PMID:22061828
MMGT1	Human	gold atom	decreases expression	EXP		6480464	Gold results in decreased expression of MMGT1 mRNA	CTD	PMID:25523186
MMGT1	Human	gold(0)	decreases expression	EXP		6480464	Gold results in decreased expression of MMGT1 mRNA	CTD	PMID:25523186
MMGT1	Human	hydroquinone O-beta-D-glucopyranoside	increases expression	EXP		6480464	Arbutin results in increased expression of MMGT1 mRNA	CTD	PMID:17103032
MMGT1	Human	indole-3-methanol	multiple interactions	ISO	Mmgt1 (Rattus norvegicus)	6480464	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of MMGT1 mRNA	CTD	PMID:22129741
MMGT1	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of MMGT1 mRNA	CTD	PMID:28628672
MMGT1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of MMGT1 protein	CTD	PMID:32959892
MMGT1	Human	L-methionine	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MMGT1 gene	CTD	PMID:20938992
MMGT1	Human	methapyrilene	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Methapyrilene results in decreased expression of MMGT1 mRNA	CTD	PMID:30467583
MMGT1	Human	microcystin-LR	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	cyanoginosin LR results in decreased expression of MMGT1 protein	CTD	PMID:26984711
MMGT1	Human	N-nitrosodiethylamine	multiple interactions	ISO	Mmgt1 (Rattus norvegicus)	6480464	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of MMGT1 mRNA	CTD	PMID:22129741
MMGT1	Human	nefazodone	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	nefazodone results in increased expression of MMGT1 mRNA	CTD	PMID:24136188
MMGT1	Human	nimesulide	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	nimesulide results in increased expression of MMGT1 mRNA	CTD	PMID:24136188
MMGT1	Human	ozone	multiple interactions	ISO	Mmgt1 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of Ozone] which results in increased expression of MMGT1 mRNA	CTD	PMID:34911549
MMGT1	Human	paracetamol	affects expression	ISO	Mmgt1 (Mus musculus)	6480464	Acetaminophen affects the expression of MMGT1 mRNA	CTD	PMID:17562736
MMGT1	Human	paracetamol	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of MMGT1 mRNA	CTD	PMID:33387578
MMGT1	Human	pirinixic acid	increases expression	ISO	Mmgt1 (Mus musculus)	6480464	pirinixic acid results in increased expression of MMGT1 mRNA	CTD	PMID:23811191
MMGT1	Human	rotenone	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of MMGT1 mRNA	CTD	PMID:28374803
MMGT1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of MMGT1 mRNA	CTD	PMID:38568856
MMGT1	Human	tetrachloromethane	decreases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in decreased expression of MMGT1 mRNA	CTD	PMID:33387578
MMGT1	Human	titanium dioxide	decreases expression	ISO	Mmgt1 (Mus musculus)	6480464	titanium dioxide results in decreased expression of MMGT1 mRNA	CTD	PMID:23557971
MMGT1	Human	titanium dioxide	decreases methylation	ISO	Mmgt1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of MMGT1 promoter	CTD	PMID:35295148
MMGT1	Human	triphenyl phosphate	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	triphenyl phosphate results in increased expression of MMGT1 mRNA	CTD	PMID:30589522
MMGT1	Human	valdecoxib	increases expression	ISO	Mmgt1 (Rattus norvegicus)	6480464	valdecoxib results in increased expression of MMGT1 mRNA	CTD	PMID:24136188

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)
MMGT1	Human	cobalt ion transport	acts_upstream_of_or_within	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	copper ion transport	acts_upstream_of_or_within	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	iron ion transmembrane transport	involved_in	IEA	GO:0015093	150520179		GOC	GO_REF:0000108
MMGT1	Human	iron ion transport	acts_upstream_of_or_within	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	magnesium ion transmembrane transport	involved_in	IEA	GO:0015095	150520179		GOC	GO_REF:0000108
MMGT1	Human	magnesium ion transport	involved_in	ISS	UniProtKB:Q8K273	150520179		UniProt	GO_REF:0000024
MMGT1	Human	magnesium ion transport	acts_upstream_of_or_within	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	monoatomic cation transport	acts_upstream_of_or_within	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	protein insertion into ER membrane by stop-transfer membrane-anchor sequence	involved_in	IDA		150520179	PMID:29242231	ComplexPortal	PMID:29242231
MMGT1	Human	protein insertion into ER membrane by stop-transfer membrane-anchor sequence	involved_in	IMP		150520179	PMID:29809151 and PMID:30415835	UniProt	PMID:29809151 and PMID:30415835
MMGT1	Human	tail-anchored membrane protein insertion into ER membrane	involved_in	IDA		150520179	PMID:29242231	ComplexPortal	PMID:29242231
MMGT1	Human	tail-anchored membrane protein insertion into ER membrane	involved_in	IMP		150520179	PMID:29242231 and PMID:34918864	UniProt	PMID:29242231 and PMID:34918864

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)
MMGT1	Human	cytoplasm	located_in	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	cytoplasm	located_in	IEA	ARBA:ARBA00026971	150520179		UniProt	GO_REF:0000117
MMGT1	Human	early endosome	located_in	IEA	UniRule:UR001325752	150520179		UniProt	GO_REF:0000104
MMGT1	Human	early endosome	is_active_in	IBA	MGI:2384305 more ...	150520179		GO_Central	GO_REF:0000033
MMGT1	Human	early endosome	located_in	ISS	UniProtKB:Q8K273	150520179		UniProt	GO_REF:0000024
MMGT1	Human	early endosome	located_in	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	early endosome membrane	located_in	IEA	UniRule:UR001325752	150520179		UniProt	GO_REF:0000104
MMGT1	Human	early endosome membrane	located_in	IEA	UniProtKB-SubCell:SL-0093	150520179		UniProt	GO_REF:0000044
MMGT1	Human	EMC complex	part_of	IPI		150520179	PMID:32439656	ComplexPortal	PMID:32439656
MMGT1	Human	EMC complex	part_of	IBA	PANTHER:PTN000475936 and UniProtKB:Q8N4V1	150520179		GO_Central	GO_REF:0000033
MMGT1	Human	EMC complex	part_of	IDA		150520179	PMID:22119785	UniProt	PMID:22119785
MMGT1	Human	EMC complex	part_of	IEA	UniRule:UR001325752	150520179		UniProt	GO_REF:0000104
MMGT1	Human	EMC complex	part_of	ISS	ComplexPortal:CPX-5848	150520179		ComplexPortal	GO_REF:0000114
MMGT1	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
MMGT1	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
MMGT1	Human	endoplasmic reticulum membrane	located_in	NAS		150520179	PMID:29242231	ComplexPortal	PMID:29242231
MMGT1	Human	endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:32439656	UniProt	PMID:32439656
MMGT1	Human	endosome	located_in	IEA	UniProtKB-KW:KW-0967	150520179		UniProt	GO_REF:0000043
MMGT1	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
MMGT1	Human	Golgi apparatus	is_active_in	IBA	MGI:2384305 more ...	150520179		GO_Central	GO_REF:0000033
MMGT1	Human	Golgi apparatus	located_in	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	Golgi apparatus	located_in	ISS	UniProtKB:Q8K273	150520179		UniProt	GO_REF:0000024
MMGT1	Human	Golgi apparatus	located_in	IEA	UniRule:UR001325752	150520179		UniProt	GO_REF:0000104
MMGT1	Human	Golgi membrane	located_in	IEA	UniProtKB-SubCell:SL-0134	150520179		UniProt	GO_REF:0000044
MMGT1	Human	Golgi membrane	located_in	IEA	UniRule:UR001325752	150520179		UniProt	GO_REF:0000104
MMGT1	Human	intracellular membrane-bounded organelle	located_in	IEA	ARBA:ARBA00029085	150520179		UniProt	GO_REF:0000117
MMGT1	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
MMGT1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
MMGT1	Human	membrane	located_in	IDA		150520179	PMID:22119785	UniProt	PMID:22119785
MMGT1	Human	plasma membrane	located_in	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	plasma membrane	is_active_in	IBA	MGI:2384305 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)
MMGT1	Human	cobalt ion transmembrane transporter activity	enables	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	ferrous iron transmembrane transporter activity	enables	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	inorganic cation transmembrane transporter activity	enables	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	inorganic cation transmembrane transporter activity	enables	IBA	MGI:2384305 more ...	150520179		GO_Central	GO_REF:0000033
MMGT1	Human	magnesium ion transmembrane transporter activity	enables	ISS	UniProtKB:Q8K273	150520179		UniProt	GO_REF:0000024
MMGT1	Human	magnesium ion transmembrane transporter activity	enables	IEA	UniProtKB:Q8K273 and ensembl:ENSMUSP00000051621	150520179		Ensembl	GO_REF:0000107
MMGT1	Human	membrane insertase activity	contributes_to	IMP		150520179	PMID:29809151 more ...	UniProt	PMID:29809151 more ...
MMGT1	Human	protein binding	enables	IPI	UniProtKB:Q15006 and UniProtKB:Q9BV81	150520179	PMID:22119785 more ...	IntAct	PMID:22119785 more ...
MMGT1	Human	protein binding	enables	IPI	UniProtKB:O00155 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
MMGT1	Human	protein binding	enables	IPI	UniProtKB:Q15006	150520179	PMID:26496610 and PMID:28514442	IntAct	PMID:26496610 and PMID:28514442
MMGT1	Human	protein binding	enables	IPI	UniProtKB:O95167 and UniProtKB:Q15006	150520179	PMID:35271311	IntAct	PMID:35271311

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MMGT1	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
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

PMID:11076863	PMID:11230166	PMID:11256614	PMID:15489336	PMID:16344560	PMID:16381901	PMID:18057121	PMID:19322201	PMID:19946888	PMID:21832049	PMID:21873635	PMID:22119785
PMID:22190034	PMID:22939629	PMID:25437307	PMID:26186194	PMID:26496610	PMID:26638075	PMID:26972000	PMID:27342126	PMID:28514442	PMID:28515276	PMID:28692057	PMID:29128334
PMID:29242231	PMID:29395067	PMID:29509190	PMID:29568061	PMID:29809151	PMID:30021884	PMID:30194290	PMID:30232004	PMID:30415835	PMID:31056421	PMID:31177093	PMID:31266804
PMID:31536960	PMID:31732153	PMID:31839598	PMID:31871319	PMID:32296183	PMID:32344865	PMID:32439656	PMID:32788342	PMID:32877691	PMID:33263384	PMID:33957083	PMID:33961781
PMID:34079125	PMID:34349018	PMID:34597346	PMID:34672954	PMID:34709727	PMID:34918864	PMID:35271311	PMID:35384245	PMID:35696571	PMID:35944360	PMID:36215168	PMID:36538041
PMID:36610398	PMID:37478010	PMID:37774976	PMID:37788672	PMID:37931956	PMID:38334954	PMID:38569033	PMID:39468006

MMGT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	135,960,588 - 135,973,988 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	135,960,588 - 135,974,029 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	135,042,747 - 135,056,147 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	134,871,897 - 134,883,800 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	134,769,750 - 134,781,654	NCBI
Celera	X	135,404,702 - 135,416,609 (-)	NCBI		Celera
Cytogenetic Map	X	q26.3	NCBI
HuRef	X	124,318,172 - 124,329,831 (-)	NCBI		HuRef
CHM1_1	X	134,955,293 - 134,967,204 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	134,269,310 - 134,282,721 (-)	NCBI		T2T-CHM13v2.0

Mmgt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	55,630,872 - 55,643,304 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	55,630,872 - 55,643,429 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	56,585,512 - 56,597,944 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	56,585,512 - 56,598,069 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	53,838,689 - 53,851,096 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	52,932,296 - 52,944,703 (-)	NCBI		MGSCv36	mm8
Celera	X	43,067,520 - 43,079,927 (-)	NCBI		Celera
Cytogenetic Map	X	A5	NCBI
cM Map	X	30.06	NCBI

Mmgt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	139,445,834 - 139,458,169 (-)	NCBI		GRCr8
mRatBN7.2	X	134,408,463 - 134,420,798 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	134,408,466 - 134,420,729 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	136,605,407 - 136,617,742 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	140,159,968 - 140,172,303 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	137,729,350 - 137,741,685 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	158,966,694 - 158,978,995 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	158,966,673 - 158,978,995 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	153,597,936 - 153,610,237 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	141,123,953 - 141,136,288 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	142,458,978 - 142,471,313 (-)	NCBI		Celera
Cytogenetic Map	X	q36	NCBI

Mmgt1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955489	9,086,506 - 9,096,746 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955489	9,086,494 - 9,133,374 (+)	NCBI	ChiLan1.0	ChiLan1.0

MMGT1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	135,375,314 - 135,387,480 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	135,378,913 - 135,391,079 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	125,086,169 - 125,098,878 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	135,354,785 - 135,366,838 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	135,354,785 - 135,366,836 (-)	Ensembl	panpan1.1		panPan2

MMGT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	106,388,286 - 106,399,166 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	92,208,405 - 92,219,240 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	108,365,094 - 108,375,929 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	108,363,610 - 108,376,441 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	105,502,517 - 105,513,352 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	107,686,189 - 107,697,025 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	107,334,890 - 107,345,725 (-)	NCBI		UU_Cfam_GSD_1.0

Mmgt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	104,375,461 - 104,385,288 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936513	11,229,506 - 11,239,525 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936513	11,229,354 - 11,239,152 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MMGT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	111,144,233 - 111,158,335 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	111,145,712 - 111,158,298 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	127,067,831 - 127,080,417 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MMGT1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	110,976,376 - 110,986,917 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	48,640,974 - 48,652,825 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mmgt1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624808	11,174,966 - 11,196,288 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in MMGT1
12 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: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 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 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 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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 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 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 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 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 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 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 Xq21.31-28(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 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 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	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
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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 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 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 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 Xq25-26.3(chrX:126759247-135790885)x1	copy number loss	not provided [RCV000684387]	ChrX:126759247..135790885 [GRCh37] ChrX:Xq25-26.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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
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 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	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 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_173470.3(MMGT1):c.236+222C>T	single nucleotide variant	not provided [RCV001693689]	ChrX:135967168 [GRCh38] ChrX:135049327 [GRCh37] ChrX:Xq26.3	benign
NM_173470.3(MMGT1):c.79+62A>G	single nucleotide variant	not provided [RCV001710123]	ChrX:135973535 [GRCh38] ChrX:135055694 [GRCh37] ChrX:Xq26.3	benign
NM_173470.3(MMGT1):c.132+154C>G	single nucleotide variant	not provided [RCV001656706]	ChrX:135970904 [GRCh38] ChrX:135053063 [GRCh37] ChrX:Xq26.3	benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_173470.3(MMGT1):c.-299G>A	single nucleotide variant	not provided [RCV001692699]	ChrX:135973974 [GRCh38] ChrX:135056133 [GRCh37] ChrX:Xq26.3	benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [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:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq26.3(chrX:135017562-135489217)x2	copy number gain	not provided [RCV002474921]	ChrX:135017562..135489217 [GRCh37] ChrX:Xq26.3	uncertain significance
NM_173470.3(MMGT1):c.388C>T (p.Arg130Cys)	single nucleotide variant	not specified [RCV004169554]	ChrX:135965032 [GRCh38] ChrX:135047191 [GRCh37] ChrX:Xq26.3	uncertain significance
NM_173470.3(MMGT1):c.305G>A (p.Arg102Gln)	single nucleotide variant	not specified [RCV004207470]	ChrX:135965115 [GRCh38] ChrX:135047274 [GRCh37] ChrX:Xq26.3	uncertain significance
GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	copy number loss	not provided [RCV003483932]	ChrX:129627661..135812056 [GRCh37] ChrX:Xq26.1-26.3	pathogenic
NM_173470.3(MMGT1):c.361T>C (p.Leu121=)	single nucleotide variant	not provided [RCV003439896]	ChrX:135965059 [GRCh38] ChrX:135047218 [GRCh37] ChrX:Xq26.3	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	copy number loss	See cases [RCV004442781]	ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28	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
NM_173470.3(MMGT1):c.311C>T (p.Ser104Leu)	single nucleotide variant	not specified [RCV004825552]	ChrX:135965109 [GRCh38] ChrX:135047268 [GRCh37] ChrX:Xq26.3	uncertain significance
NM_173470.3(MMGT1):c.389G>A (p.Arg130His)	single nucleotide variant	not specified [RCV004641070]	ChrX:135965031 [GRCh38] ChrX:135047190 [GRCh37] ChrX:Xq26.3	uncertain significance
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 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-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 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 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xq26.2-26.3(chrX:133532321-137519462)x2	copy number gain	See cases [RCV000140818]	ChrX:133532321..137519462 [GRCh38] ChrX:132666349..136601621 [GRCh37] ChrX:132494015..136429287 [NCBI36] ChrX:Xq26.2-26.3	likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 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 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 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	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 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	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 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0	copy number loss	See cases [RCV000510757]	ChrX:133081342..135086194 [GRCh37] ChrX:Xq26.2-26.3	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 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 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	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 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	copy number gain	not provided [RCV000684377]	ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	copy number loss	not provided [RCV000684380]	ChrX:120777368..139345946 [GRCh37] ChrX:Xq24-27.1	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 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [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 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	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 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-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 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:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_173470.3(MMGT1):c.352A>C (p.Asn118His)	single nucleotide variant	not specified [RCV004513352]	ChrX:135965068 [GRCh38] ChrX:135047227 [GRCh37] ChrX:Xq26.3	uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	copy number loss	not provided [RCV004442761]	ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
NM_173470.3(MMGT1):c.391C>T (p.Arg131Cys)	single nucleotide variant	not specified [RCV004515390]	ChrX:135965029 [GRCh38] ChrX:135047188 [GRCh37] ChrX:Xq26.3	uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_173470.3(MMGT1):c.173A>G (p.Tyr58Cys)	single nucleotide variant	not specified [RCV004513284]	ChrX:135967453 [GRCh38] ChrX:135049612 [GRCh37] ChrX:Xq26.3	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

Predicted Target Of

	Summary Value
Count of predictions:	2137
Count of miRNA genes:	663
Interacting mature miRNAs:	745
Transcripts:	ENST00000305963, ENST00000433339
Prediction methods:	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.

D13S1134E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	135,047,187 - 135,047,254	UniSTS	GRCh37
Build 36	X	134,874,853 - 134,874,920	RGD	NCBI36
Celera	X	135,407,658 - 135,407,725	RGD
Cytogenetic Map	X	q26.3	UniSTS
HuRef	X	124,321,129 - 124,321,196	UniSTS

A005K16

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	135,044,275 - 135,044,449	UniSTS	GRCh37
Build 36	X	134,871,941 - 134,872,115	RGD	NCBI36
Celera	X	135,404,746 - 135,404,920	RGD
Cytogenetic Map	X	q26.3	UniSTS
HuRef	X	124,318,216 - 124,318,390	UniSTS
GeneMap99-GB4 RH Map	X	320.11	UniSTS
NCBI RH Map	X	685.3	UniSTS

G20282

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	135,044,275 - 135,044,449	UniSTS	GRCh37
Build 36	X	134,871,941 - 134,872,115	RGD	NCBI36
Celera	X	135,404,746 - 135,404,920	RGD
Cytogenetic Map	X	q26.3	UniSTS
HuRef	X	124,318,216 - 124,318,390	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2435	2788	2251	4972	1726	2351	6	623	1951	465	2269	7298	6468	53	3734	851	1742	1616	175	1


RefSeq Transcripts	NM_001330000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_173470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK295829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL157477	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL732579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL953870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB072597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC401453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000305963 ⟹ ENSP00000306220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	135,960,588 - 135,973,988 (-)	Ensembl

Ensembl Acc Id:

ENST00000679621 ⟹ ENSP00000505226

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	135,964,678 - 135,974,029 (-)	Ensembl

Ensembl Acc Id:

ENST00000680510 ⟹ ENSP00000505521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	135,962,152 - 135,974,013 (-)	Ensembl

Ensembl Acc Id:

ENST00000681201 ⟹ ENSP00000506673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	135,963,173 - 135,973,684 (-)	Ensembl

RefSeq Acc Id:

NM_001330000 ⟹ NP_001316929

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	135,960,588 - 135,973,988 (-)	NCBI
T2T-CHM13v2.0	X	134,269,310 - 134,282,721 (-)	NCBI

Sequence:

show sequence

CTCTTCGCTTCCCCGTAGCTCCCGCTTTCGCCTCTTCGTTTATGACTCCGTTGGGCTCCGGCCCTCCTAGAGAGGCCTCCATAGCGCAGCCCTCTGGCTTTTCCACCACTGAGACACTTTGCGCTCAG
GACTTCAGTGACGTCATCTTTCTGCGGCGCGCGGACACCCGCCGGTGGAAGAAGAAACAGCTCCGCCGTCCTTCGCTTCTTTTGCTGGGCTGCTGCTCCTTCGGCATCATGGCGCCGTCGCTGTGGAA
GGGGCTGGTGGGCATCGGTCTCTTTGCCCTAGCCCACGCCGCCTTTTCCGCTGCGCAGCATCGTTCTTATATGCGATTAACAGAAAAAGAAGATGAATCACTGCCAATAGATATAGTTCTTCAGACAC
TTCTGGCCTTTGCAGTTACCTGTTACGGTATAGTTCATATTGCAGGAGAGTTTAAAGACATGGATGCCACTTCAGAACTGAAAAATAAGACATTTGATACGTTAAGGAATCACCCATCCTTTTATGTA
TTTAATCATCGTGGTCGAGTACTTTTCCGGCCTTCGGATACAGCAAATTCTTCAAACCAAGATGCATTGTCCTCTAACACATCATTGAAGTTACGAAAACTCGAATCACTGCGTCGTTAAGATTTTTA
CAAATTATAATAATAGGACAGGACACAGAGCTGGAATATTGGAGTTTGGGGTATAAAACACTCCTCCCTGCCCCCATTAGTATTTATATTGATCTTTCAGACCTACTTTAGTAAAAAAAACCATGGCC
CTTGTTTATATACTGTTAATCCAATCATTAATGCAGTGTAAGTTATATGTGAAATGAGTCTTTGGTATTTCATATAGGAATTATTTTTTTTTTCATTTAAAACAAATCCACATCTTTTGTAAAAGCCA
CTGTTTTGAACACATTTCCTTGAAAAATGTTGGTGGTTTTTGTGATTATTTATTTTTTTAGATTTCTTTTCTTTTGCACTACAATTTTTGGAATCCTTTTGGAAATACTGTGTGACTGCTGTGTTTTG
CAGCATGAATTATAGTAAAATGGTCTTCAATTCTTAACAAATGGACTTCCCTGATGAGACCAAAATGGTGATTTAACAGTTTTTCTTGTGTCCCCTAAAAAGTGGCTCTGCTTCAGAAGTACTTGCCA
GTTTTTAATTTATTTGTGACTTTTCACCCTACCCTGCTCCCATATACCTTCTACCATCAGCTGTCTTGTTTCATCATTTCTCTGAGATTCTGTGTGCAGTGAGCAATTTTTGTGTCAGAAATTCTTTG
TCAGAACAAATATATGTAACAGGCTCAACTTACTGTAAAGCTACTTGTGTTCTCTTCATTTGTCTGTAAAAATTTCCCTAATTGATTATATAGTGTAAGAATAGTTGAAGACTAGTTGAAGACCTTTT
GTGATTTCATTATCATGCCTATGCAGAAGAAAAATCATTGAGGAAAATTGTCATTAGCCAGTTTAACTGATTCAAACTCTGTTTATTTCATACTAAACTAGTGAATAAGTGAAATAAAGGAAACTCGT
CATTAATCTAAAGACAGAGTTCAAAGGAATTGGGCCAAATATATTCTCAGTATTTGGAACTAATGTTTTTAAGGTTTTTAGGAAAATCAGGTCATTTAAGAAATTGTTTTGTAGTTTCTGGTTTATAG
CAGTCTTCAAGTTTTCCATCTTCACTGTATGTTGCTGAAAGTGAGGATGAGGATACAGAGTTGATATTTTTAGAAACAGTAATTTTACTTTTAAGGAAATTGGCTAGCTCTTTGAGCTAGAGAGCTGT
AGGAAGCTCAACATTTCTTTGTAGAGAACGTTGCTTTTTTTGGATTGTACAGGTATAAAAACATTGCTTTTGTTGAATTGTATAGGTGTAAAAAGGGAATAACTGTATGCAGGTTTGAAAAGGAAATG
TGCTTTAGGCATGAGTCATAAGATGCCATTGTACTTGTAGGCATTTTATTTTCCTTTAGAAATGGACATCAGCTCTTCTCTTCTGACTGGTAACACATAGCCCCAAAGCATGAGATTATTTTTCATTG
GGTTTTTATTGTTGTTTAGTTTTGGTTTGTTACGCCAGCCCAGTCTGTCTGCGGAACACTGACTCTGCTCTCTAATGAGAACAAAGTTAGAAATCTGCCGATAACCTAAAATAATTTAGAAATGAATT
AAAAATGTGAAATCGGGTTAAAGTGATGATGATAAAATAGCATGCAAGAAACAAGCTCCTTCCATCAGACTTGGCTACTGTTTTCTTCTGGTACGATTTGGTTTGGAAGAGCCTCTTGTTTCCTTCTC
TTTGGGGTATGTCTTCGTTTCTTAATATGTTTGTAACATTATTGAGATATAATTCACATACCTTACAATTCACTTATTTTAAGGGTACAATTTAGTGGTTTTTAGTGTATTCACAAAGTTGTGTAACC
GTGACCACAGTCAATTTTAGAACATTTCGTTACCCCAAAAAGAAACCCTGTACCCTTGAGCAGTCACCTCTCATTTTCTCCCAGTGCCCACCCCATCCCCGAGCCCCTGGCAACCACTAATCTATTTC
TCTCTCTGTAGATTTGCTTATTCTGGTCATTTCATATAAATGGAATTCTACAATATTCGGTCTTTTGGGACTGGCTTCCCAAATATGATTTTCTATATGGAGTGAGAAAATTCTTCTCATCTTGAGAA
CTCTTATTGCTGTGAAAGGGAGTGGTTGGTAAAATCAATAGATTTCAGGCAAGAGGGCCAGATACCTAACAGGTTTTTCTCCGTGAATCTTATGCTGAGTAGTTTTTCCTCATAACCAAGCATTTATG
ATATATTACTACTTATAATACTGTGGCTAGTCTCTAGAATGGATGTTGAAATCTTTGCCTCCTCAGTCGGGAAGAGTCCTGCTAAAAATCAGGCTAAAAATCAGGCCAAAAATCAGGCCAAATGACTT
GGCAAATAATTGACAAAGTGGTTTTCACGTGTGTCTATCTTTGCTAGCAGCTTGTATACCTCAGGCCAGGTGAGCTCCCCAAATTTCTTTTTTCATTTACTCCAGTGAGTTTCTGCTGTCTTTTTCAA
GTATGTACCATAGGACTTAAAGGTGATTTGGATGCGTTGTAACACTGCTAAATATGCTAAGTACAGAATTTTATCTACAGTACTGTGAGACAGTCAATTATTGCCTAGGGTAGTTCAAAAATATGATG
TGAGCTAGTTAAGCCTTTGCTTGACTGATTTCAGTGATATTCAGAAGTGTGTACCAATCAAGGCTCTTTAAAATACGGAACGACTCACTTAATAACCAGGGAACCAGCCAAATACTGTGCAGCCGCAG
AATATGCATATCAATGAGTTGGAGGTGATTATTCTCTGTAACTCCCTAATGATTGTTTTCTAAGCATTGTGGCTTCTCAGTGGCTTGACAGCATCTTCCTGGTTGTATGTGGCCTGTTTACATGATGT
ATTGAATAATGTTGTTTGTTGTGAGCATCAATGCCTGTAACACCAAACTAAACACGTGTTTTTGGGATATGTTTCCAATCTTTAAATGACCTTGCCCTGTCCAATAAATAAATGATTGTCTCACCCTG
TTTTTGGTAGTGTTTTTTGGGCTTTTTTTTTTTGGACTTTTAATCTCATTTCTTCTGCTTTTCTGTCCCCAGAAAAATGTAAGAGCTAATTTTATGACTGTATTTTTCTACTGTGATGCTGTTTTACT
GAATTCAATGGATAATTTAATTGTACATGTAAAATCTTACTGCAGTTTTATGTTTTTAATAGTCAAAATAGAATGTATAATCTTGATGATGTTTATAAATCATCAAATGCCCTTTGGGGTGTAAAAAT
GGGTTCTTGAGCAGCAGTGTCTAATGATTCCATCACAAATTTGTTATAAAGCCAAACTCCCATTGAAAGTGTCACTTTATACTTAATAGGAAATCGTTATGATTAAAGCATCAAGGAAGCAAATATAA
AGTTTAATGAAAATCCAAGGGGAAGTTCTAAATTGCAAAACTTGGCACTTATCTACAGTATTTTGAAAAATAACACCACCGGTATTCAAACCTACCTAGGAATATCTCAAAATAACCTGTTAATTAAG
TGTTCTTAGAAAGGGGAGTGGGGGCAAGAAAGATGATGTATGCACATGGCGAAAAGATCAGATGGTACAGAAAGGTATAAAAACTTGGTCCCTTCCCTCCTACCCTAATACTCCTCTCCAAAAGTAAC
CAGTTTCAAGTGTCTTGTACTCACAGGAAAACAATTTTTTATTTTTTATCAGCAAATTTGTACTTTAAAAATTTCACATTAATAGAATCAGACTATATATACTCTTCTGTACCTTGCTTTTTTTGCTA
CCTGTGTTTTATGAGATCTTTCTGTATCAGTATATATAAAAATACCTCATTATTTTTAGCGGCTGTGTGGTATTCTAATGTTTGAATGTGTTACAAATGTTCAAACACTGATAGGCTCTTTAGGTTGT
TTCCAATATTAAATCACATTGTGGTGAATATACTTGTACATATAATGAGTTTTTATTCTACAGTGTACCTAGCAATACAATTGCTGGATCAGAGGGTATTTTTTATTTTCAGTTCAGTAGTTACTGCC
AAATTGTCCTCTAGAAATCTTTGCCCAGTATGCTTCCACATATAATGTATGAGAATGATTATTTACCAAACCCATGCCAATACTGGGTACTAAACTTTTGAAGTCTGATCATGTGAAAGTGAATAAAT
GGTATCTTGCGTTTTAATGAAGTTCTAATGCATTTTAATGAAGGTCTGGTACATTTTAATGAAGGAGATGGAACACATTTTCATGTTTATTGATTACTGATATTTCCTGTGAAATGTGTAGTCATGTT
CTGTTTTCTATTAGGTGGTATGTGTTTTATTGATTTGTATGAGCTTTTTGTAAGCTAAGAAAATTGGTCCATTGTCATGTTTAATAATATTTTCCTAAGTTTTATTTATGTAGTTAAACTTAGTCTTT
ACAGCTTCTGAGATTTTGCCTTGCTTAGAAAGGCCACCTTTGCATTTAAGAATAAATTTAATGTATTTTTCCAGTA

hide sequence

RefSeq Acc Id:

NM_173470 ⟹ NP_775741

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	135,960,588 - 135,973,988 (-)	NCBI
GRCh37	X	135,044,230 - 135,056,224 (-)	NCBI
Build 36	X	134,871,897 - 134,883,800 (-)	NCBI Archive
Celera	X	135,404,702 - 135,416,609 (-)	RGD
HuRef	X	124,318,172 - 124,329,831 (-)	RGD
CHM1_1	X	134,955,293 - 134,967,204 (-)	NCBI
T2T-CHM13v2.0	X	134,269,310 - 134,282,721 (-)	NCBI

Sequence:

show sequence

CTCTTCGCTTCCCCGTAGCTCCCGCTTTCGCCTCTTCGTTTATGACTCCGTTGGGCTCCGGCCCTCCTAGAGAGGCCTCCATAGCGCAGGTTCGTGGGTTCTCGCGGACCTTTTTCCGTGTAGCTTTC
TGCTTCTTCCCGGCATTCCTGTTTCCGTTTTCTCACAGCCCTCTGGCTTTTCCACCACTGAGACACTTTGCGCTCAGGACTTCAGTGACGTCATCTTTCTGCGGCGCGCGGACACCCGCCGGTGGAAG
AAGAAACAGCTCCGCCGTCCTTCGCTTCTTTTGCTGGGCTGCTGCTCCTTCGGCATCATGGCGCCGTCGCTGTGGAAGGGGCTGGTGGGCATCGGTCTCTTTGCCCTAGCCCACGCCGCCTTTTCCGC
TGCGCAGCATCGTTCTTATATGCGATTAACAGAAAAAGAAGATGAATCACTGCCAATAGATATAGTTCTTCAGACACTTCTGGCCTTTGCAGTTACCTGTTACGGTATAGTTCATATTGCAGGAGAGT
TTAAAGACATGGATGCCACTTCAGAACTGAAAAATAAGACATTTGATACGTTAAGGAATCACCCATCCTTTTATGTATTTAATCATCGTGGTCGAGTACTTTTCCGGCCTTCGGATACAGCAAATTCT
TCAAACCAAGATGCATTGTCCTCTAACACATCATTGAAGTTACGAAAACTCGAATCACTGCGTCGTTAAGATTTTTACAAATTATAATAATAGGACAGGACACAGAGCTGGAATATTGGAGTTTGGGG
TATAAAACACTCCTCCCTGCCCCCATTAGTATTTATATTGATCTTTCAGACCTACTTTAGTAAAAAAAACCATGGCCCTTGTTTATATACTGTTAATCCAATCATTAATGCAGTGTAAGTTATATGTG
AAATGAGTCTTTGGTATTTCATATAGGAATTATTTTTTTTTTCATTTAAAACAAATCCACATCTTTTGTAAAAGCCACTGTTTTGAACACATTTCCTTGAAAAATGTTGGTGGTTTTTGTGATTATTT
ATTTTTTTAGATTTCTTTTCTTTTGCACTACAATTTTTGGAATCCTTTTGGAAATACTGTGTGACTGCTGTGTTTTGCAGCATGAATTATAGTAAAATGGTCTTCAATTCTTAACAAATGGACTTCCC
TGATGAGACCAAAATGGTGATTTAACAGTTTTTCTTGTGTCCCCTAAAAAGTGGCTCTGCTTCAGAAGTACTTGCCAGTTTTTAATTTATTTGTGACTTTTCACCCTACCCTGCTCCCATATACCTTC
TACCATCAGCTGTCTTGTTTCATCATTTCTCTGAGATTCTGTGTGCAGTGAGCAATTTTTGTGTCAGAAATTCTTTGTCAGAACAAATATATGTAACAGGCTCAACTTACTGTAAAGCTACTTGTGTT
CTCTTCATTTGTCTGTAAAAATTTCCCTAATTGATTATATAGTGTAAGAATAGTTGAAGACTAGTTGAAGACCTTTTGTGATTTCATTATCATGCCTATGCAGAAGAAAAATCATTGAGGAAAATTGT
CATTAGCCAGTTTAACTGATTCAAACTCTGTTTATTTCATACTAAACTAGTGAATAAGTGAAATAAAGGAAACTCGTCATTAATCTAAAGACAGAGTTCAAAGGAATTGGGCCAAATATATTCTCAGT
ATTTGGAACTAATGTTTTTAAGGTTTTTAGGAAAATCAGGTCATTTAAGAAATTGTTTTGTAGTTTCTGGTTTATAGCAGTCTTCAAGTTTTCCATCTTCACTGTATGTTGCTGAAAGTGAGGATGAG
GATACAGAGTTGATATTTTTAGAAACAGTAATTTTACTTTTAAGGAAATTGGCTAGCTCTTTGAGCTAGAGAGCTGTAGGAAGCTCAACATTTCTTTGTAGAGAACGTTGCTTTTTTTGGATTGTACA
GGTATAAAAACATTGCTTTTGTTGAATTGTATAGGTGTAAAAAGGGAATAACTGTATGCAGGTTTGAAAAGGAAATGTGCTTTAGGCATGAGTCATAAGATGCCATTGTACTTGTAGGCATTTTATTT
TCCTTTAGAAATGGACATCAGCTCTTCTCTTCTGACTGGTAACACATAGCCCCAAAGCATGAGATTATTTTTCATTGGGTTTTTATTGTTGTTTAGTTTTGGTTTGTTACGCCAGCCCAGTCTGTCTG
CGGAACACTGACTCTGCTCTCTAATGAGAACAAAGTTAGAAATCTGCCGATAACCTAAAATAATTTAGAAATGAATTAAAAATGTGAAATCGGGTTAAAGTGATGATGATAAAATAGCATGCAAGAAA
CAAGCTCCTTCCATCAGACTTGGCTACTGTTTTCTTCTGGTACGATTTGGTTTGGAAGAGCCTCTTGTTTCCTTCTCTTTGGGGTATGTCTTCGTTTCTTAATATGTTTGTAACATTATTGAGATATA
ATTCACATACCTTACAATTCACTTATTTTAAGGGTACAATTTAGTGGTTTTTAGTGTATTCACAAAGTTGTGTAACCGTGACCACAGTCAATTTTAGAACATTTCGTTACCCCAAAAAGAAACCCTGT
ACCCTTGAGCAGTCACCTCTCATTTTCTCCCAGTGCCCACCCCATCCCCGAGCCCCTGGCAACCACTAATCTATTTCTCTCTCTGTAGATTTGCTTATTCTGGTCATTTCATATAAATGGAATTCTAC
AATATTCGGTCTTTTGGGACTGGCTTCCCAAATATGATTTTCTATATGGAGTGAGAAAATTCTTCTCATCTTGAGAACTCTTATTGCTGTGAAAGGGAGTGGTTGGTAAAATCAATAGATTTCAGGCA
AGAGGGCCAGATACCTAACAGGTTTTTCTCCGTGAATCTTATGCTGAGTAGTTTTTCCTCATAACCAAGCATTTATGATATATTACTACTTATAATACTGTGGCTAGTCTCTAGAATGGATGTTGAAA
TCTTTGCCTCCTCAGTCGGGAAGAGTCCTGCTAAAAATCAGGCTAAAAATCAGGCCAAAAATCAGGCCAAATGACTTGGCAAATAATTGACAAAGTGGTTTTCACGTGTGTCTATCTTTGCTAGCAGC
TTGTATACCTCAGGCCAGGTGAGCTCCCCAAATTTCTTTTTTCATTTACTCCAGTGAGTTTCTGCTGTCTTTTTCAAGTATGTACCATAGGACTTAAAGGTGATTTGGATGCGTTGTAACACTGCTAA
ATATGCTAAGTACAGAATTTTATCTACAGTACTGTGAGACAGTCAATTATTGCCTAGGGTAGTTCAAAAATATGATGTGAGCTAGTTAAGCCTTTGCTTGACTGATTTCAGTGATATTCAGAAGTGTG
TACCAATCAAGGCTCTTTAAAATACGGAACGACTCACTTAATAACCAGGGAACCAGCCAAATACTGTGCAGCCGCAGAATATGCATATCAATGAGTTGGAGGTGATTATTCTCTGTAACTCCCTAATG
ATTGTTTTCTAAGCATTGTGGCTTCTCAGTGGCTTGACAGCATCTTCCTGGTTGTATGTGGCCTGTTTACATGATGTATTGAATAATGTTGTTTGTTGTGAGCATCAATGCCTGTAACACCAAACTAA
ACACGTGTTTTTGGGATATGTTTCCAATCTTTAAATGACCTTGCCCTGTCCAATAAATAAATGATTGTCTCACCCTGTTTTTGGTAGTGTTTTTTGGGCTTTTTTTTTTTGGACTTTTAATCTCATTT
CTTCTGCTTTTCTGTCCCCAGAAAAATGTAAGAGCTAATTTTATGACTGTATTTTTCTACTGTGATGCTGTTTTACTGAATTCAATGGATAATTTAATTGTACATGTAAAATCTTACTGCAGTTTTAT
GTTTTTAATAGTCAAAATAGAATGTATAATCTTGATGATGTTTATAAATCATCAAATGCCCTTTGGGGTGTAAAAATGGGTTCTTGAGCAGCAGTGTCTAATGATTCCATCACAAATTTGTTATAAAG
CCAAACTCCCATTGAAAGTGTCACTTTATACTTAATAGGAAATCGTTATGATTAAAGCATCAAGGAAGCAAATATAAAGTTTAATGAAAATCCAAGGGGAAGTTCTAAATTGCAAAACTTGGCACTTA
TCTACAGTATTTTGAAAAATAACACCACCGGTATTCAAACCTACCTAGGAATATCTCAAAATAACCTGTTAATTAAGTGTTCTTAGAAAGGGGAGTGGGGGCAAGAAAGATGATGTATGCACATGGCG
AAAAGATCAGATGGTACAGAAAGGTATAAAAACTTGGTCCCTTCCCTCCTACCCTAATACTCCTCTCCAAAAGTAACCAGTTTCAAGTGTCTTGTACTCACAGGAAAACAATTTTTTATTTTTTATCA
GCAAATTTGTACTTTAAAAATTTCACATTAATAGAATCAGACTATATATACTCTTCTGTACCTTGCTTTTTTTGCTACCTGTGTTTTATGAGATCTTTCTGTATCAGTATATATAAAAATACCTCATT
ATTTTTAGCGGCTGTGTGGTATTCTAATGTTTGAATGTGTTACAAATGTTCAAACACTGATAGGCTCTTTAGGTTGTTTCCAATATTAAATCACATTGTGGTGAATATACTTGTACATATAATGAGTT
TTTATTCTACAGTGTACCTAGCAATACAATTGCTGGATCAGAGGGTATTTTTTATTTTCAGTTCAGTAGTTACTGCCAAATTGTCCTCTAGAAATCTTTGCCCAGTATGCTTCCACATATAATGTATG
AGAATGATTATTTACCAAACCCATGCCAATACTGGGTACTAAACTTTTGAAGTCTGATCATGTGAAAGTGAATAAATGGTATCTTGCGTTTTAATGAAGTTCTAATGCATTTTAATGAAGGTCTGGTA
CATTTTAATGAAGGAGATGGAACACATTTTCATGTTTATTGATTACTGATATTTCCTGTGAAATGTGTAGTCATGTTCTGTTTTCTATTAGGTGGTATGTGTTTTATTGATTTGTATGAGCTTTTTGT
AAGCTAAGAAAATTGGTCCATTGTCATGTTTAATAATATTTTCCTAAGTTTTATTTATGTAGTTAAACTTAGTCTTTACAGCTTCTGAGATTTTGCCTTGCTTAGAAAGGCCACCTTTGCATTTAAGA
ATAAATTTAATGTATTTTTCCAGTA

hide sequence


Protein RefSeqs	NP_001316929	(Get FASTA)	NCBI Sequence Viewer
	NP_775741	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH33588	(Get FASTA)	NCBI Sequence Viewer
	BAG35322	(Get FASTA)	NCBI Sequence Viewer
	BAG58645	(Get FASTA)	NCBI Sequence Viewer
	EAW88483	(Get FASTA)	NCBI Sequence Viewer
	EAW88484	(Get FASTA)	NCBI Sequence Viewer
	EAW88485	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000306220
	ENSP00000306220.2
	ENSP00000505226
	ENSP00000505226.1
GenBank Protein	Q8N4V1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_775741 ⟸ NM_173470
- UniProtKB:	D3DWG7 (UniProtKB/Swiss-Prot), B4DIY3 (UniProtKB/Swiss-Prot), B2R625 (UniProtKB/Swiss-Prot), Q5JPP7 (UniProtKB/Swiss-Prot), Q8N4V1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAPSLWKGLVGIGLFALAHAAFSAAQHRSYMRLTEKEDESLPIDIVLQTLLAFAVTCYGIVHIAGEFKDMDATSELKNKTFDTLRNHPSFYVFNHRGRVLFRPSDTANSSNQDALSSNTSLKLRKLES LRR hide sequence

RefSeq Acc Id:	NP_001316929 ⟸ NM_001330000
- UniProtKB:	D3DWG7 (UniProtKB/Swiss-Prot), B4DIY3 (UniProtKB/Swiss-Prot), B2R625 (UniProtKB/Swiss-Prot), Q5JPP7 (UniProtKB/Swiss-Prot), Q8N4V1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAPSLWKGLVGIGLFALAHAAFSAAQHRSYMRLTEKEDESLPIDIVLQTLLAFAVTCYGIVHIA GEFKDMDATSELKNKTFDTLRNHPSFYVFNHRGRVLFRPSDTANSSNQDALSSNTSLKLRKLESLRR hide sequence

Ensembl Acc Id:

ENSP00000306220 ⟸ ENST00000305963

Ensembl Acc Id:

ENSP00000506673 ⟸ ENST00000681201

Ensembl Acc Id:

ENSP00000505226 ⟸ ENST00000679621

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N4V1-F1-model_v2	AlphaFold	Q8N4V1	1-131	view protein structure

RGD ID:

6809046

Promoter ID:

HG_KWN:68183

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000058453

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	134,883,596 - 134,884,582 (-)	MPROMDB

RGD ID:

13628194

Promoter ID:

EPDNEW_H29372

Type:

initiation region

Name:

MMGT1_2

Description:

membrane magnesium transporter 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29373

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	135,973,755 - 135,973,815	EPDNEW

RGD ID:

13628196

Promoter ID:

EPDNEW_H29373

Type:

initiation region

Name:

MMGT1_1

Description:

membrane magnesium transporter 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29372

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	135,973,988 - 135,974,048	EPDNEW

Database	Acc Id	Source(s)
COSMIC	MMGT1	COSMIC
Ensembl Genes	ENSG00000169446	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000305963	ENTREZGENE
	ENST00000305963.3	UniProtKB/Swiss-Prot
	ENST00000679621	ENTREZGENE
	ENST00000679621.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000169446	GTEx
HGNC ID	HGNC:28100	ENTREZGENE
Human Proteome Map	MMGT1	Human Proteome Map
InterPro	Magnesium_transport	UniProtKB/Swiss-Prot
KEGG Report	hsa:93380	UniProtKB/Swiss-Prot
NCBI Gene	93380	ENTREZGENE
OMIM	301098	OMIM
PANTHER	ER MEMBRANE PROTEIN COMPLEX SUBUNIT 5	UniProtKB/Swiss-Prot
	PTHR21181	UniProtKB/Swiss-Prot
Pfam	MMgT	UniProtKB/Swiss-Prot
PharmGKB	PA164723074	PharmGKB
UniProt	A0A7P0T9E6_HUMAN	UniProtKB/TrEMBL
	A0A7P0TBL5_HUMAN	UniProtKB/TrEMBL
	B2R625	ENTREZGENE
	B4DIY3	ENTREZGENE
	D3DWG7	ENTREZGENE
	MMGT1_HUMAN	UniProtKB/Swiss-Prot
	Q5JPP7	ENTREZGENE
	Q8N4V1	ENTREZGENE
UniProt Secondary	B2R625	UniProtKB/Swiss-Prot
	B4DIY3	UniProtKB/Swiss-Prot
	D3DWG7	UniProtKB/Swiss-Prot
	Q5JPP7	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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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar