SLC38A5 (solute carrier family 38 member 5)

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Gene: SLC38A5 (solute carrier family 38 member 5) Homo sapiens

Analyze

Symbol:

SLC38A5

Name:

solute carrier family 38 member 5

RGD ID:

730905

HGNC Page

HGNC:18070

Description:

Enables amino acid transmembrane transporter activity and neutral amino acid, sodium:proton antiporter activity. Involved in amino acid transport. Predicted to be located in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

JM24; pp7194; SN2; SNAT5; sodium-coupled neutral amino acid transporter 5; solute carrier family 38 (amino acid transporter), member 5; solute carrier family 38, member 5; system N transporter 2; transport system N, protein 2

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	48,458,544 - 48,470,260 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	48,458,537 - 48,470,260 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	48,316,927 - 48,328,648 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,201,871 - 48,213,509 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	48,073,181 - 48,084,819	NCBI
Celera	X	53,337,091 - 53,348,808 (+)	NCBI		Celera
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	45,981,068 - 45,992,834 (-)	NCBI		HuRef
CHM1_1	X	48,348,162 - 48,359,900 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	47,867,546 - 47,879,266 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

congenital disorder of glycosylation type IIm (IAGP)

Endotoxemia (ISO)

genetic disease (IAGP)

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IAGP)

neurodegeneration with brain iron accumulation 5 (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked epilepsy with variable learning disabilities and behavior disorders (IAGP)

X-linked severe congenital neutropenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP,ISO)

17beta-estradiol 3-benzoate (ISO)

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

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

3,7-dihydropurine-6-thione (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

allethrin (ISO)

alpha-pinene (EXP)

amitrole (ISO)

ammonium chloride (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

chloroprene (ISO)

choline (ISO)

cisplatin (EXP)

Cuprizon (ISO)

cyhalothrin (ISO)

cypermethrin (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

dichloroacetic acid (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

entinostat (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenvalerate (ISO)

flavonoids (ISO)

folic acid (ISO)

formaldehyde (EXP)

gentamycin (ISO)

indometacin (EXP)

ketamine (ISO)

L-methionine (ISO)

mercaptopurine (ISO)

methamphetamine (ISO)

methimazole (ISO)

methyl methanesulfonate (EXP)

nickel sulfate (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

paracetamol (EXP)

paraquat (ISO)

pioglitazone (ISO)

purine-6-thiol (ISO)

pyrethrins (ISO)

quercetin (EXP)

SB 431542 (EXP)

SCH 23390 (ISO)

silicon dioxide (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

tamoxifen (ISO)

testosterone (ISO)

titanium dioxide (ISO)

toluene (ISO)

topotecan (ISO)

trichloroethene (ISO)

tris(2-butoxyethyl) phosphate (EXP)

valproic acid (ISO)

XL147 (ISO)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amino acid export across plasma membrane (ISS)

amino acid import across plasma membrane (ISS)

amino acid transport (TAS)

asparagine transmembrane transport (IMP)

asparagine transport (IEA)

glutamine transport (IBA,IMP,ISS)

glycine transport (IBA,IMP,ISO)

L-alanine transmembrane transport (IMP)

L-glutamine import across plasma membrane (IEA,ISS)

L-histidine transmembrane transport (IBA,IMP,ISS)

L-serine import across plasma membrane (ISS)

L-serine transport (ISS)

neutral amino acid transport (IDA,ISO)

serine transport (IBA,IMP)

sodium ion transmembrane transport (IEA)

transport across blood-brain barrier (NAS)

Cellular Component

membrane (IEA)

plasma membrane (IEA,ISS,TAS)

Molecular Function

alanine transmembrane transporter activity (IMP)

amino acid transmembrane transporter activity (ISO,TAS)

glycine transmembrane transporter activity (IBA,IMP,ISO)

L-asparagine transmembrane transporter activity (IMP)

L-glutamine transmembrane transporter activity (IBA,IMP,ISS)

L-glutamine, sodium:proton antiporter activity (IEA,ISS)

L-histidine transmembrane transporter activity (IMP,ISS)

L-serine transmembrane transporter activity (ISS)

neutral amino acid, sodium:proton antiporter activity (IDA)

neutral L-amino acid transmembrane transporter activity (ISO)

serine transmembrane transporter activity (IMP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of neuronal migration (IAGP)

Autism (IAGP)

Esophageal atresia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Changes of plasma glutamine concentration and hepatocyte membrane system N transporters expression in early endotoxemia.	Wang W, etal., J Surg Res. 2011 Apr;166(2):290-7. doi: 10.1016/j.jss.2009.08.027. Epub 2009 Sep 23.

Additional References at PubMed

PMID:11243884	PMID:12477932	PMID:14702039	PMID:16344560	PMID:17333282	PMID:18195088	PMID:18418736	PMID:21873635	PMID:22382077	PMID:22939629	PMID:23506890	PMID:26496610
PMID:26590417	PMID:28190767	PMID:29499643	PMID:30280653	PMID:31871319	PMID:33961781	PMID:34704597	PMID:36454214	PMID:37458433

Genomics

Comparative Map Data

SLC38A5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	48,458,544 - 48,470,260 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	48,458,537 - 48,470,260 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	48,316,927 - 48,328,648 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,201,871 - 48,213,509 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	48,073,181 - 48,084,819	NCBI
Celera	X	53,337,091 - 53,348,808 (+)	NCBI		Celera
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	45,981,068 - 45,992,834 (-)	NCBI		HuRef
CHM1_1	X	48,348,162 - 48,359,900 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	47,867,546 - 47,879,266 (-)	NCBI		T2T-CHM13v2.0

Slc38a5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	8,137,620 - 8,146,418 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	8,137,372 - 8,146,418 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	8,271,381 - 8,280,179 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	8,271,133 - 8,280,179 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	7,848,518 - 7,857,305 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	7,428,353 - 7,437,133 (+)	NCBI		MGSCv36	mm8
Celera	X	3,190,181 - 3,198,970 (-)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI
cM Map	X	3.74	NCBI

Slc38a5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	14,213,727 - 14,222,498 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	14,213,729 - 14,222,498 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	19,027,241 - 19,036,002 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	21,047,080 - 21,055,839 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	17,312,273 - 17,321,032 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	14,963,919 - 14,972,675 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	14,963,921 - 14,972,675 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	15,748,231 - 15,756,314 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	26,244,421 - 26,253,596 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	26,297,889 - 26,307,057 (-)	NCBI
Celera	X	14,299,226 - 14,307,991 (-)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Slc38a5
(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_004955543	16,089 - 24,668 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955543	15,968 - 24,644 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC38A5
(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	X	49,950,398 - 49,962,310 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	40,756,423 - 40,768,327 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	48,621,018 - 48,632,682 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	48,621,018 - 48,632,682 (-)	Ensembl	panpan1.1		panPan2

SLC38A5
(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	41,709,441 - 41,718,702 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	41,709,467 - 41,717,080 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	16,085,681 - 16,094,898 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	41,845,558 - 41,854,816 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	41,845,558 - 41,854,758 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	41,832,556 - 41,841,772 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	41,820,836 - 41,830,050 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	41,914,395 - 41,923,619 (-)	NCBI		UU_Cfam_GSD_1.0

Slc38a5
(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	34,178,875 - 34,200,906 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936721	419,268 - 441,350 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936721	419,286 - 441,224 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC38A5
(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	42,590,607 - 42,601,502 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	42,590,608 - 42,601,537 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	47,547,735 - 47,558,567 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC38A5
(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	45,588,992 - 45,598,771 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666076	11,040,195 - 11,052,121 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc38a5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624893	275,820 - 284,696 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624893	275,906 - 284,883 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC38A5
14 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.23-11.22(chrX:47859417-52789530)x3	copy number gain	See cases [RCV000052390]	ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2	copy number gain	See cases [RCV000051992]	ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_033518.3(SLC38A5):c.138G>A (p.Gly46=)	single nucleotide variant	Malignant melanoma [RCV000073202]	ChrX:48467069 [GRCh38] ChrX:48325456 [GRCh37] ChrX:48210400 [NCBI36] ChrX:Xp11.23	not provided
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3	copy number gain	See cases [RCV000135801]	ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	copy number gain	See cases [RCV000135958]	ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2	copy number gain	See cases [RCV000136829]	ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3	copy number gain	See cases [RCV000137271]	ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23	likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3	copy number gain	See cases [RCV000138106]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1	copy number loss	See cases [RCV000138107]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2	copy number gain	See cases [RCV000139185]	ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033518.4(SLC38A5):c.806T>C (p.Phe269Ser)	single nucleotide variant	Abnormality of neuronal migration [RCV000201351]	ChrX:48461763 [GRCh38] ChrX:48320149 [GRCh37] ChrX:Xp11.23	uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1	copy number loss	See cases [RCV000203435]	ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)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 Xp11.23-11.22(chrX:48317353-51497588)x3	copy number gain	See cases [RCV000449147]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23(chrX:48300928-48578333)x3	copy number gain	See cases [RCV000447325]	ChrX:48300928..48578333 [GRCh37] ChrX:Xp11.23	uncertain significance
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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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 Xp11.23-11.22(chrX:48317353-51497588)x2	copy number gain	See cases [RCV000447617]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_033518.4(SLC38A5):c.1352T>C (p.Met451Thr)	single nucleotide variant	not specified [RCV000454510]	ChrX:48459000 [GRCh38] ChrX:48317386 [GRCh37] ChrX:Xp11.23	benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	copy number gain	See cases [RCV000511234]	ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	copy number gain	not provided [RCV000767648]	ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23	pathogenic
NM_033518.4(SLC38A5):c.280T>C (p.Tyr94His)	single nucleotide variant	Inborn genetic diseases [RCV003268722]	ChrX:48466838 [GRCh38] ChrX:48325225 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.520A>C (p.Ile174Leu)	single nucleotide variant	Inborn genetic diseases [RCV003291903]	ChrX:48462952 [GRCh38] ChrX:48321337 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	copy number gain	See cases [RCV000512224]	ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	copy number gain	See cases [RCV000512561]	ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	copy number loss	not provided [RCV000684331]	ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1	copy number loss	not provided [RCV000753535]	ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2	pathogenic
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 Xp11.23(chrX:48316843-48328279)x2	copy number gain	not provided [RCV000753536]	ChrX:48316843..48328279 [GRCh37] ChrX:Xp11.23	benign
GRCh37/hg19 Xp11.23(chrX:48317386-48328279)x2	copy number gain	not provided [RCV000753537]	ChrX:48317386..48328279 [GRCh37] ChrX:Xp11.23	benign
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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
NM_033518.4(SLC38A5):c.517C>G (p.Leu173Val)	single nucleotide variant	Esophageal atresia [RCV000984684]	ChrX:48462955 [GRCh38] ChrX:48321340 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	copy number gain	not provided [RCV000847795]	ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3	copy number gain	not provided [RCV000848540]	ChrX:48182541..48630992 [GRCh37] ChrX:Xp11.23	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-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	copy number gain	not provided [RCV001007303]	ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2	copy number gain	not provided [RCV001007302]	ChrX:48237630..48590047 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	copy number gain	not provided [RCV001258953]	ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	copy number gain	not provided [RCV001258954]	ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_033518.4(SLC38A5):c.406G>A (p.Val136Ile)	single nucleotide variant	not provided [RCV001812402]	ChrX:48466236 [GRCh38] ChrX:48324623 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1	copy number loss	not provided [RCV001258949]	ChrX:48225025..48601326 [GRCh37] ChrX:Xp11.23	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:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	copy number gain	not provided [RCV001537899]	ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NC_000023.10:g.(?_46618120)_(48549553_?)del	deletion	X-linked severe congenital neutropenia [RCV003111118]\|not provided [RCV003122288]	ChrX:46618120..48549553 [GRCh37] ChrX:Xp11.23	pathogenic
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033518.4(SLC38A5):c.862C>T (p.Arg288Cys)	single nucleotide variant	Inborn genetic diseases [RCV002997301]	ChrX:48461076 [GRCh38] ChrX:48319462 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.1333G>A (p.Val445Ile)	single nucleotide variant	Inborn genetic diseases [RCV002732640]	ChrX:48459019 [GRCh38] ChrX:48317405 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.64G>A (p.Glu22Lys)	single nucleotide variant	Inborn genetic diseases [RCV002704650]	ChrX:48467775 [GRCh38] ChrX:48326162 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.886G>A (p.Val296Met)	single nucleotide variant	Inborn genetic diseases [RCV002977238]	ChrX:48461052 [GRCh38] ChrX:48319438 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.329C>T (p.Ala110Val)	single nucleotide variant	Inborn genetic diseases [RCV002764381]	ChrX:48466313 [GRCh38] ChrX:48324700 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_033518.4(SLC38A5):c.965C>T (p.Ala322Val)	single nucleotide variant	Inborn genetic diseases [RCV002670001]	ChrX:48460752 [GRCh38] ChrX:48319138 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del	deletion	not provided [RCV003154905]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4032
Count of miRNA genes:	990
Interacting mature miRNAs:	1243
Transcripts:	ENST00000317669, ENST00000376875, ENST00000376876, ENST00000413668, ENST00000416711, ENST00000429543, ENST00000440085, ENST00000441948, ENST00000462359, ENST00000480105, ENST00000488083, ENST00000494034, ENST00000497336
Prediction methods:	Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

RH93254

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,316,943 - 48,317,024	UniSTS	GRCh37
Build 36	X	48,201,887 - 48,201,968	RGD	NCBI36
Celera	X	53,348,711 - 53,348,792	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,981,084 - 45,981,165	UniSTS
GeneMap99-GB4 RH Map	X	143.34	UniSTS

DXS6949

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,329,722 - 48,329,898	UniSTS	GRCh37
Build 36	X	48,214,666 - 48,214,842	RGD	NCBI36
Celera	X	53,335,837 - 53,336,013	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,993,912 - 45,994,088	UniSTS

G21700

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,327,916 - 48,328,065	UniSTS	GRCh37
Build 36	X	48,212,860 - 48,213,009	RGD	NCBI36
Celera	X	53,337,670 - 53,337,819	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	45,992,106 - 45,992,255	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

439

743

675

1491

1084

1436

303

1322

397

Low

1934

1919

756

308

444

186

2271

1294

2222

252

1076

168

123

1119

1478

Below cutoff

322

290

251

254

986

840

121

111

912

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_021469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005272694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005272695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005272697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005272698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006724569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029960	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328124	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054328125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF196972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF276889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF318358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL606490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW183216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX534682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX534684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA089769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000413668 ⟹ ENSP00000403976

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,462,122 - 48,468,388 (-)	Ensembl

RefSeq Acc Id:

ENST00000416711 ⟹ ENSP00000389644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,462,898 - 48,469,017 (-)	Ensembl

RefSeq Acc Id:

ENST00000429543 ⟹ ENSP00000416948

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,466,015 - 48,470,243 (-)	Ensembl

RefSeq Acc Id:

ENST00000440085 ⟹ ENSP00000402988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,461,731 - 48,468,311 (-)	Ensembl

RefSeq Acc Id:

ENST00000441948 ⟹ ENSP00000407258

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,461,752 - 48,468,557 (-)	Ensembl

RefSeq Acc Id:

ENST00000480105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,459,220 - 48,460,977 (-)	Ensembl

RefSeq Acc Id:

ENST00000488083 ⟹ ENSP00000483716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,466,015 - 48,469,557 (-)	Ensembl

RefSeq Acc Id:

ENST00000494034 ⟹ ENSP00000482638

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,460,986 - 48,466,872 (-)	Ensembl

RefSeq Acc Id:

ENST00000497336

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,545 - 48,467,060 (-)	Ensembl

RefSeq Acc Id:

ENST00000595796 ⟹ ENSP00000471683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,537 - 48,470,177 (-)	Ensembl

RefSeq Acc Id:

ENST00000615300

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,693 - 48,460,854 (-)	Ensembl

RefSeq Acc Id:

ENST00000619100 ⟹ ENSP00000478807

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,539 - 48,467,493 (-)	Ensembl

RefSeq Acc Id:

ENST00000620913 ⟹ ENSP00000481291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,544 - 48,470,260 (-)	Ensembl

RefSeq Acc Id:

ENST00000622196 ⟹ ENSP00000484236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	48,458,539 - 48,467,493 (-)	Ensembl

RefSeq Acc Id:

NM_033518 ⟹ NP_277053

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,470,260 (-)	NCBI
GRCh37	X	48,316,927 - 48,328,644 (-)	RGD
GRCh37	X	48,316,927 - 48,328,644 (-)	NCBI
Build 36	X	48,201,871 - 48,213,509 (-)	NCBI Archive
Celera	X	53,337,091 - 53,348,808 (+)	RGD
HuRef	X	45,981,061 - 45,992,834 (-)	NCBI
CHM1_1	X	48,348,155 - 48,359,900 (-)	NCBI
T2T-CHM13v2.0	X	47,867,546 - 47,879,266 (-)	NCBI

Sequence:

show sequence

AGCCACAAATGCCCTCCCTGCCTCCCTCTGGGGGCCCCCAAGATCTAGGGTCCTCTCGTGCCTA
GGCTGTCTGCCTGAGGAAAAAAAAAAAAGTACCGCTCCAGAGCAGGAGCCTAGGCAGCCGAGAG
GGTGCCCGAACCTGAGTCTGAGTTGCGGCCACTTCAGGAGCTGAGAGGAGCAGGATGGAACTGC
AGGATCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACGTGAGGG
CTTCCTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTCGAGGGG
AAGACATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCATCCTGG
GGCTGGCCTATGCCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTGCATTGC
GCTTCTGTCGTCCTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATCCGAGCC
TATGAGCAGCTGGGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCT
GTCTGCACAATGTTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGT
TATCGGCACCTTCCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATC
ATCATCGTCAGTGTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGT
ACACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTT
CCAACTTGGCTGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTC
CCCAGCCAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGTCCT
ACACAGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATACGGA
GCTCTGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCCATGTTC
TGCATGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGGCGGAGA
TGCTGCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCTCGC
GGTGACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTTTTC
CCAGGCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTTTGGTCA
ATGTCCTTGTCATCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCACCTCAGC
CCCCAGCCTCATCTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAG
CCTTTCTTATCCTGGCCCAAGATCCAGGCCCTGTGCTTTGGAGTCCTGGGAGTCCTCTTCATGG
CCGTCAGTCTAGGCTTTATGTTTGCCAACTGGGCCACAGGCCAGAGCCGCATGTCTGGACACTG
ATCAGGCCCTGCTGGCCCAGGTCCCTGTGCGCATGCACATGGAGGGGTCAGGGCCGCTCCCTAG
GGTCCCTCCTGCCCAACATGTGGAGGTGGCTGGTTCCCATGAACGTGGTTGTCAGAGGCGGGGG
ACAGCAGAGGCTGCAGACTGGCCCACTTCCCTCCTCCCCAGGGATGCCAAGCTTGGATCATGGC
CCTAATCCCAACCCCAACCCCATGGGAGGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAG
GAGGAGGAGGAGGAGGAGGCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTC
CTCCTGGCTGAAGCTGTTTGTCAGGATTACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAG
CTACCA

hide sequence

RefSeq Acc Id:

XM_005272694 ⟹ XP_005272751

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,469,156 (-)	NCBI

Sequence:

show sequence

CAGTTTGAGCTCTAATGGGGACCTTGAATGGGGGTTTCTGAGATACCTCCTTCCCAAGGAGTAA
GCGCGGGAGGGAGCTGGGGTTTCTTCAGAGACGCTGTACCTACAAGACAGGGGCTCCAGGCTCG
GGTGGGGATTGCAGAGACACCCCCACCCCAGGAAACTCGGATGGAACTGCAGGATCCAAAGATG
AATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACGTGAGGGCTTCCTGCCCAGTC
GTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTCGAGGGGAAGACATCGTTTGG
AATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCATCCTGGGGCTGGCCTATGCC
ATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTGCATTGCGCTTCTGTCGTCCT
ACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATCCGAGCCTATGAGCAGCTGGG
ACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCTGTCTGCACAATGTT
GGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGTTATCGGCACCTTCC
TGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCATCGTCAGTGT
GTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGTACACCAGTGGTCTC
TCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTTCCAACTTGGCTGTG
CTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTCCCCAGCCAAGGACT
CAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGTCCTACACAGTGCCCATT
ATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATACGGAGCTCTGCCGGCCCT
CCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCCATGTTCTGCATGTATGGGCT
CACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGGCGGAGATGCTGCACATGTAC
AGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCTCGCGGTGACCCTCACTG
TGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTTTTCCCAGGCAAGGCCTT
CAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTTTGGTCAATGTCCTTGTCATC
TGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCACCTCAGCCCCCAGCCTCATCT
TCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAGCCTTTCTTATCCTG
GCCCAAGATCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCCCAACCCCAACCCCATGGGAG
GAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGCCAGGTCCT
GGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGCTGAAGCTGTTTGTCAGGATT
ACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_005272695 ⟹ XP_005272752

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,469,229 (-)	NCBI
GRCh37	X	48,316,927 - 48,328,644 (-)	NCBI

Sequence:

show sequence

GCCAGTTTGAGCTCTAATGGGGACCTTGAATGGGGGTTTCTGAGATACCTCCTTCCCAAGGAGT
AAGCGCGGGAGGGAGCTGGGGTTTCTTCAGAGACGCTGTACCTACAAGACAGGGGCTCCAGGCT
CGGGTGGGGATTGCAGAGACACCCCCACCCCAGGAAACTCGGATGGAACTGCAGGATCCAAAGA
TGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACGTGAGGGCTTCCTGCCCAG
TCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTCGAGGGGAAGACATCGTTT
GGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCATCCTGGGGCTGGCCTATG
CCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTGCATTGCGCTTCTGTCGTC
CTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATCCGAGCCTATGAGCAGCTG
GGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCTGTCTGCACAATG
TTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGTTATCGGCACCTT
CCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCATCGTCAGT
GTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGTACACCAGTGGTC
TCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTTCCAACTTGGCTG
TGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTCCCCAGCCAAGGA
CTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGTCCTACACAGTGCCCA
TTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATACGGAGCTCTGCCGGCC
CTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCCATGTTCTGCATGTATGGG
CTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGGCGGAGATGCTGCACATGT
ACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCTCGCGGTGACCCTCAC
TGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTTTTCCCAGGCAAGGCC
TTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTTTGGTCAATGTCCTTGTCA
TCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCACCTCAGCCCCCAGCCTCAT
CTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAGCCTTTCTTATCC
TGGCCCAAGATCCAGGCCCTGTGCTTTGGAGTCCTGGGAGTCCTCTTCATGGCCGTCAGTCTAG
GCTTTATGTTTGCCAACTGGGCCACAGGCCAGAGCCGCATGTCTGGACACTGATCAGGCCCTGC
TGGCCCAGGTCCCTGTGCGCATGCACATGGAGGGGTCAGGGCCGCTCCCTAGGGTCCCTCCTGC
CCAACATGTGGAGGTGGCTGGTTCCCATGAACGTGGTTGTCAGAGGCGGGGGACAGCAGAGGCT
GCAGACTGGCCCACTTCCCTCCTCCCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCCCAAC
CCCAACCCCATGGGAGGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG
GAGGAGGCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGCTGAA
GCTGTTTGTCAGGATTACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_005272697 ⟹ XP_005272754

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,468,416 (-)	NCBI
GRCh37	X	48,316,927 - 48,328,644 (-)	NCBI

Sequence:

show sequence

AGGCCGACACGTGTCCCTGCAAGGAGTGAGCCGCCTGGCCACGCGGTGAGGGTGGAGGGAAGGA
GAGGGGGTGGCGCGGGGGACCGGGGAATGAAAGACACAGATGGCAAGAGAGACAGCGATGGAAC
TGCAGGATCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACGTGA
GGGCTTCCTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTCGAG
GGGAAGACATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCATCC
TGGGGCTGGCCTATGCCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTGCAT
TGCGCTTCTGTCGTCCTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATCCGA
GCCTATGAGCAGCTGGGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCA
TCTGTCTGCACAATGTTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCCCCT
GGTTATCGGCACCTTCCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTC
ATCATCATCGTCAGTGTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGG
GGTACACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAA
GTTCCAACTTGGCTGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGA
CTCCCCAGCCAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGT
CCTACACAGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATAC
GGAGCTCTGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCCATG
TTCTGCATGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGGCGG
AGATGCTGCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCT
CGCGGTGACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTT
TTCCCAGGCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTTTGG
TCAATGTCCTTGTCATCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCACCTC
AGCCCCCAGCCTCATCTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAGGTG
GAGCCTTTCTTATCCTGGCCCAAGATCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCCCAA
CCCCAACCCCATGGGAGGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGA
GGAGGAGGCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGCTGA
AGCTGTTTGTCAGGATTACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_005272698 ⟹ XP_005272755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,468,301 (-)	NCBI
GRCh37	X	48,316,927 - 48,328,644 (-)	NCBI

Sequence:

show sequence

TCTGGGGTCTGGGAGGAGAGGCTATCCCTTCTCCACGTGGTCGGCTCATCTGCGCTGGGGATGG
AACTGCAGGATCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACG
TGAGGGCTTCCTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTC
GAGGGGAAGACATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCA
TCCTGGGGCTGGCCTATGCCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTG
CATTGCGCTTCTGTCGTCCTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATC
CGAGCCTATGAGCAGCTGGGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAG
TCATCTGTCTGCACAATGTTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCC
CCTGGTTATCGGCACCTTCCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTC
CTCATCATCATCGTCAGTGTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACC
TGGGGTACACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAA
GAAGTTCCAACTTGGCTGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTG
GGACTCCCCAGCCAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGA
TGTCCTACACAGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTA
TACGGAGCTCTGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCC
ATGTTCTGCATGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGG
CGGAGATGCTGCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCT
GCTCGCGGTGACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTG
CTTTTCCCAGGCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTT
TGGTCAATGTCCTTGTCATCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCAC
CTCAGCCCCCAGCCTCATCTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAG
GTGGAGCCTTTCTTATCCTGGCCCAAGATCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCC
CAACCCCAACCCCATGGGAGGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGA
GGAGGAGGAGGCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGC
TGAAGCTGTTTGTCAGGATTACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_006724569 ⟹ XP_006724632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,470,260 (-)	NCBI

Sequence:

show sequence

ACAAATGCCCTCCCTGCCTCCCTCTGGGGGCCCCCAAGATCTAGGGTCCTCTCGTGCCTAGGCT
GTCTGCCTGAGGAAAAAAAAAAAAGTACCGCTCCAGAGCAGGAGCCTAGGCAGCCGAGAGGGTG
CCCGAACCTGAGTCTGAGTTGCGGCCACTTCAGGAGCTGAGAGGAGCAGGATGGAACTGCAGGA
TCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGGCAAGAACGTGAGGGCTTC
CTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCATGGATTTCGAGGGGAAGA
CATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGGCAGCGGCATCCTGGGGCT
GGCCTATGCCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTGCTGCTGTGCATTGCGCTT
CTGTCGTCCTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTGCAGGCATCCGAGCCTATG
AGCAGCTGGGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCTGTCT
GCACAATGTTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGTTATC
GGCACCTTCCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCA
TCGTCAGTGTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGTACAC
CAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTTCCAA
CTTGGCTGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTCCCCA
GCCAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGACTCACAGATGTCCTACAC
AGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTGCCCATCTATACGGAGCTC
TGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCATTGGGGCCATGTTCTGCA
TGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAGTGTGAAGGCGGAGATGCT
GCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCTCGCGGTG
ACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTTTTCCCAG
GCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCTGCTTGTTTTGGTCAATGT
CCTTGTCATCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATCGGGTCCACCTCAGCCCCC
AGCCTCATCTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAGCCTT
TCTTATCCTGGCCCAAGATCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCCCAACCCCAAC
CCCATGGGAGGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG
GCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGCTGAAGCTGTT
TGTCAGGATTACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTAC

hide sequence

RefSeq Acc Id:

XM_017029960 ⟹ XP_016885449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,468,416 (-)	NCBI

Sequence:

show sequence

CGCCTGGCCACGCGGTGAGGGTGGAGGGAAGGAGAGGGGGTGGCGCGGGGGACCGGGGAATGAA
AGACACAGATGGCAAGAGAGACAGCGATGGAACTGCAGGATCCAAAGATGAATGGAGCCCTCCC
TTCGGATGCTGTGGGCTACAGGCAAGAACGTGAGGGCTTCCTGCCCAGTCGTGGTCCTGCTCCT
GGGAGCAAGCCGGTCCAGTTCATGGATTTCGAGGGGAAGACATCGTTTGGAATGTCAGTGTTCA
ACCTCAGCAACGCCATCATGGGCAGCGGCATCCTGGGGCTGGCCTATGCCATGGCCCACACGGG
GGTCATCTTCTTCCTGGCCCTGCTGCTGTGCATTGCGCTTCTGTCGTCCTACTCCATCCACCTC
CTGCTGACCTGTGCTGGTATTGCAGGCATCCGAGCCTATGAGCAGCTGGGACAGAGGGCATTCG
GGCCTGCGGGGAAGGTAGTGGTGGCCACAGTCATCTGTCTGCACAATGTTGGGGCCATGTCCAG
TTACCTGTTCATCATCAAATCTGAGCTCCCCCTGGTTATCGGCACCTTCCTGTACATGGACCCC
GAGGGGGACTGGTTCTTGAAGGGAAACCTCCTCATCATCATCGTCAGTGTGTTAATCATCCTGC
CCCTCGCCCTCATGAAACACTTGGGCTACCTGGGGTACACCAGTGGTCTCTCTCTGACCTGCAT
GCTGTTTTTCCTTGTTTCGGTCATCTACAAGAAGTTCCAACTTGGCTGTGCTATAGGCCACAAT
GAAACAGCAATGGAGAGTGAAGCTCTCGTGGGACTCCCCAGCCAAGGACTCAACAGCAGCTGTG
AGGCCCAGATGTTCACAGTTGACTCACAGATGTCCTACACAGTGCCCATTATGGCTTTTGCTTT
TGTCTGCCACCCTGAGGTGCTGCCCATCTATACGGAGCTCTGCCGGCCCTCCAAGCGCAGGATG
CAGGCCGTGGCCAACGTGTCCATTGGGGCCATGTTCTGCATGTATGGGCTCACAGCAACCTTTG
GATACCTCACCTTCTACAGCAGTGTGAAGGCGGAGATGCTGCACATGTACAGCCAGAAGGACCC
GCTCATCCTCTGTGTGCGCCTGGCCGTGCTGCTCGCGGTGACCCTCACTGTGCCAGTCGTGCTG
TTCCCTATCCGCCGGGCCCTGCAGCAGCTGCTTTTCCCAGGCAAGGCCTTCAGCTGGCCACGAC
ATGTGGCCATAGCTCTGATCCTGCTTGTTTTGGTCAATGTCCTTGTCATCTGTGTGCCAACCAT
CCGGGATATCTTTGGAGTTATCGGGTCCACCTCAGCCCCCAGCCTCATCTTCATCCTCCCCAGC
ATCTTCTACCTCCGCATTGTACCCTCTGAGGTGGAGCCTTTCTTATCCTGGCCCAAGATCCAGG
CCCTGTGCTTTGGAGTCCTGGGAGTCCTCTTCATGGCCGTCAGTCTAGGCTTTATGTTTGCCAA
CTGGGCCACAGGCCAGAGCCGCATGTCTGGACACTGATCAGGCCCTGCTGGCCCAGGTCCCTGT
GCGCATGCACATGGAGGGGTCAGGGCCGCTCCCTAGGGTCCCTCCTGCCCAACATGTGGAGGTG
GCTGGTTCCCATGAACGTGGTTGTCAGAGGCGGGGGACAGCAGAGGCTGCAGACTGGCCCACTT
CCCTCCTCCCCAGGGATGCCAAGCTTGGATCATGGCCCTAATCCCAACCCCAACCCCATGGGAG
GAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGCCAGGTCCT
GGTGGAGCCTTTGCCCAGCCCAGTCCTCTCTGCCTCCTCCTGGCTGAAGCTGTTTGTCAGGATT
ACCCTCGGGCTAAAGAGGAAAAATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_017029961 ⟹ XP_016885450

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,458,544 - 48,468,306 (-)	NCBI

Sequence:

show sequence

AGCGTGAGTCTGGGGTCTGGGAGGAGAGGCTATCCCTTCTCCACGTGGTCGGCTCATCTGCGCT
GGGGATGGAACTGCAGGATCCAAAGATGAATGGAGCCCTCCCTTCGGATGCTGTGGGCTACAGG
CAAGAACGTGAGGGCTTCCTGCCCAGTCGTGGTCCTGCTCCTGGGAGCAAGCCGGTCCAGTTCA
TGGATTTCGAGGGGAAGACATCGTTTGGAATGTCAGTGTTCAACCTCAGCAACGCCATCATGGG
CAGCGGCATCCTGGGGCTGGCCTATGCCATGGCCCACACGGGGGTCATCTTCTTCCTGGCCCTG
CTGCTGTGCATTGCGCTTCTGTCGTCCTACTCCATCCACCTCCTGCTGACCTGTGCTGGTATTG
CAGGCATCCGAGCCTATGAGCAGCTGGGACAGAGGGCATTCGGGCCTGCGGGGAAGGTAGTGGT
GGCCACAGTCATCTGTCTGCACAATGTTGGGGCCATGTCCAGTTACCTGTTCATCATCAAATCT
GAGCTCCCCCTGGTTATCGGCACCTTCCTGTACATGGACCCCGAGGGGGACTGGTTCTTGAAGG
GAAACCTCCTCATCATCATCGTCAGTGTGTTAATCATCCTGCCCCTCGCCCTCATGAAACACTT
GGGCTACCTGGGGTACACCAGTGGTCTCTCTCTGACCTGCATGCTGTTTTTCCTTGTTTCGGTC
ATCTACAAGAAGTTCCAACTTGGCTGTGCTATAGGCCACAATGAAACAGCAATGGAGAGTGAAG
CTCTCGTGGGACTCCCCAGCCAAGGACTCAACAGCAGCTGTGAGGCCCAGATGTTCACAGTTGA
CTCACAGATGTCCTACACAGTGCCCATTATGGCTTTTGCTTTTGTCTGCCACCCTGAGGTGCTG
CCCATCTATACGGAGCTCTGCCGGCCCTCCAAGCGCAGGATGCAGGCCGTGGCCAACGTGTCCA
TTGGGGCCATGTTCTGCATGTATGGGCTCACAGCAACCTTTGGATACCTCACCTTCTACAGCAG
TGTGAAGGCGGAGATGCTGCACATGTACAGCCAGAAGGACCCGCTCATCCTCTGTGTGCGCCTG
GCCGTGCTGCTCGCGGTGACCCTCACTGTGCCAGTCGTGCTGTTCCCTATCCGCCGGGCCCTGC
AGCAGCTGCTTTTCCCAGGCAAGGCCTTCAGCTGGCCACGACATGTGGCCATAGCTCTGATCCT
GCTTGTTTTGGTCAATGTCCTTGTCATCTGTGTGCCAACCATCCGGGATATCTTTGGAGTTATC
GGGTCCACCTCAGCCCCCAGCCTCATCTTCATCCTCCCCAGCATCTTCTACCTCCGCATTGTAC
CCTCTGAGGTGGAGCCTTTCTTATCCTGGCCCAAGATCCAGGCCCTGTGCTTTGGAGTCCTGGG
AGTCCTCTTCATGGCCGTCAGTCTAGGCTTTATGTTTGCCAACTGGGCCACAGGCCAGAGCCGC
ATGTCTGGACACTGATCAGGCCCTGCTGGCCCAGGTCCCTGTGCGCATGCACATGGAGGGGTCA
GGGCCGCTCCCTAGGGTCCCTCCTGCCCAACATGTGGAGGTGGCTGGTTCCCATGAACGTGGTT
GTCAGAGGCGGGGGACAGCAGAGGCTGCAGACTGGCCCACTTCCCTCCTCCCCAGGGATGCCAA
GCTTGGATCATGGCCCTAATCCCAACCCCAACCCCATGGGAGGAGGAGGAGGAGGAAGAAGAGG
AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGCCAGGTCCTGGTGGAGCCTTTGCCCAGCCCA
GTCCTCTCTGCCTCCTCCTGGCTGAAGCTGTTTGTCAGGATTACCCTCGGGCTAAAGAGGAAAA
ATAAAGATGTTGAGCTACCA

hide sequence

RefSeq Acc Id:

XM_054328119 ⟹ XP_054184094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,878,162 (-)	NCBI

RefSeq Acc Id:

XM_054328120 ⟹ XP_054184095

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,878,235 (-)	NCBI

RefSeq Acc Id:

XM_054328121 ⟹ XP_054184096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,877,461 (-)	NCBI

RefSeq Acc Id:

XM_054328122 ⟹ XP_054184097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,879,266 (-)	NCBI

RefSeq Acc Id:

XM_054328123 ⟹ XP_054184098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,877,306 (-)	NCBI

RefSeq Acc Id:

XM_054328124 ⟹ XP_054184099

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,877,461 (-)	NCBI

RefSeq Acc Id:

XM_054328125 ⟹ XP_054184100

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	47,867,546 - 47,877,311 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_277053	(Get FASTA)	NCBI Sequence Viewer
	XP_005272751	(Get FASTA)	NCBI Sequence Viewer
	XP_005272752	(Get FASTA)	NCBI Sequence Viewer
	XP_005272754	(Get FASTA)	NCBI Sequence Viewer
	XP_005272755	(Get FASTA)	NCBI Sequence Viewer
	XP_006724632	(Get FASTA)	NCBI Sequence Viewer
	XP_016885449	(Get FASTA)	NCBI Sequence Viewer
	XP_016885450	(Get FASTA)	NCBI Sequence Viewer
	XP_054184094	(Get FASTA)	NCBI Sequence Viewer
	XP_054184095	(Get FASTA)	NCBI Sequence Viewer
	XP_054184096	(Get FASTA)	NCBI Sequence Viewer
	XP_054184097	(Get FASTA)	NCBI Sequence Viewer
	XP_054184098	(Get FASTA)	NCBI Sequence Viewer
	XP_054184099	(Get FASTA)	NCBI Sequence Viewer
	XP_054184100	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH19246	(Get FASTA)	NCBI Sequence Viewer
	AAH27721	(Get FASTA)	NCBI Sequence Viewer
	AAK61856	(Get FASTA)	NCBI Sequence Viewer
	AAL55865	(Get FASTA)	NCBI Sequence Viewer
	BAG52932	(Get FASTA)	NCBI Sequence Viewer
	CAD57229	(Get FASTA)	NCBI Sequence Viewer
	CAD57230	(Get FASTA)	NCBI Sequence Viewer
	EAW50785	(Get FASTA)	NCBI Sequence Viewer
	EAW50786	(Get FASTA)	NCBI Sequence Viewer
	EAW50787	(Get FASTA)	NCBI Sequence Viewer
	EAW50788	(Get FASTA)	NCBI Sequence Viewer
	EAW50789	(Get FASTA)	NCBI Sequence Viewer
	EAW50790	(Get FASTA)	NCBI Sequence Viewer
	Q8WUX1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_277053 ⟸ NM_033518

- UniProtKB:

Q8WYU2 (UniProtKB/Swiss-Prot), Q6PIW9 (UniProtKB/Swiss-Prot), B7WPJ9 (UniProtKB/Swiss-Prot), B5MDE6 (UniProtKB/Swiss-Prot), B3KT20 (UniProtKB/Swiss-Prot), Q96PQ4 (UniProtKB/Swiss-Prot), Q8WUX1 (UniProtKB/Swiss-Prot), A0A024QYY0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGS
GILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVA
TVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLG
YLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDS
QMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSV
KAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILL
VLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQALCFGVLGV
LFMAVSLGFMFANWATGQSRMSGH

hide sequence

RefSeq Acc Id:

XP_005272751 ⟸ XM_005272694

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGVSEIPPSQGVSAGGSWGFFRDAVPTRQGLQARVGIAETPPPQETRMELQDPKMNGALPSDAV
GYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGSGILGLAYAMAHTGVIFF
LALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVATVICLHNVGAMSSYLFI
IKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLGYLGYTSGLSLTCMLFFL
VSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDSQMSYTVPIMAFAFVCHP
EVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSVKAEMLHMYSQKDPLILC
VRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILLVLVNVLVICVPTIRDIF
GVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQGCQAWIMALIPTPTPWEEEEEEEEEE
EEEEEEEEEARSWWSLCPAQSSLPPPG

hide sequence

RefSeq Acc Id:

XP_005272752 ⟸ XM_005272695

- Peptide Label:

isoform X2

- Sequence:

show sequence

MGVSEIPPSQGVSAGGSWGFFRDAVPTRQGLQARVGIAETPPPQETRMELQDPKMNGALPSDAV
GYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGSGILGLAYAMAHTGVIFF
LALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVATVICLHNVGAMSSYLFI
IKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLGYLGYTSGLSLTCMLFFL
VSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDSQMSYTVPIMAFAFVCHP
EVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSVKAEMLHMYSQKDPLILC
VRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILLVLVNVLVICVPTIRDIF
GVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQALCFGVLGVLFMAVSLGFMFANWATG
QSRMSGH

hide sequence

RefSeq Acc Id:

XP_005272754 ⟸ XM_005272697

- Peptide Label:

isoform X3

- Sequence:

show sequence

MARETAMELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLS
NAIMGSGILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPA
GKVVVATVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLA
LMKHLGYLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQ
MFTVDSQMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYL
TFYSSVKAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVA
IALILLVLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQGCQ
AWIMALIPTPTPWEEEEEEEEEEEEEEEEEEEARSWWSLCPAQSSLPPPG

hide sequence

RefSeq Acc Id:

XP_005272755 ⟸ XM_005272698

- Peptide Label:

isoform X4

- Sequence:

show sequence

MELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGS
GILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVA
TVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLG
YLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDS
QMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSV
KAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILL
VLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQGCQAWIMAL
IPTPTPWEEEEEEEEEEEEEEEEEEEARSWWSLCPAQSSLPPPG

hide sequence

RefSeq Acc Id:

XP_006724632 ⟸ XM_006724569

- Peptide Label:

isoform X4

- Sequence:

show sequence

MELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGS
GILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVA
TVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLG
YLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDS
QMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSV
KAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILL
VLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQGCQAWIMAL
IPTPTPWEEEEEEEEEEEEEEEEEEEARSWWSLCPAQSSLPPPG

hide sequence

RefSeq Acc Id:

XP_016885449 ⟸ XM_017029960

- Peptide Label:

isoform X5

- Sequence:

show sequence

MARETAMELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLS
NAIMGSGILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPA
GKVVVATVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLA
LMKHLGYLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQ
MFTVDSQMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYL
TFYSSVKAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVA
IALILLVLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQALC
FGVLGVLFMAVSLGFMFANWATGQSRMSGH

hide sequence

RefSeq Acc Id:	XP_016885450 ⟸ XM_017029961
- Peptide Label:	isoform X6
- UniProtKB:	Q8WYU2 (UniProtKB/Swiss-Prot), Q6PIW9 (UniProtKB/Swiss-Prot), B7WPJ9 (UniProtKB/Swiss-Prot), B5MDE6 (UniProtKB/Swiss-Prot), B3KT20 (UniProtKB/Swiss-Prot), Q96PQ4 (UniProtKB/Swiss-Prot), Q8WUX1 (UniProtKB/Swiss-Prot), A0A024QYY0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MELQDPKMNGALPSDAVGYRQEREGFLPSRGPAPGSKPVQFMDFEGKTSFGMSVFNLSNAIMGS GILGLAYAMAHTGVIFFLALLLCIALLSSYSIHLLLTCAGIAGIRAYEQLGQRAFGPAGKVVVA TVICLHNVGAMSSYLFIIKSELPLVIGTFLYMDPEGDWFLKGNLLIIIVSVLIILPLALMKHLG YLGYTSGLSLTCMLFFLVSVIYKKFQLGCAIGHNETAMESEALVGLPSQGLNSSCEAQMFTVDS QMSYTVPIMAFAFVCHPEVLPIYTELCRPSKRRMQAVANVSIGAMFCMYGLTATFGYLTFYSSV KAEMLHMYSQKDPLILCVRLAVLLAVTLTVPVVLFPIRRALQQLLFPGKAFSWPRHVAIALILL VLVNVLVICVPTIRDIFGVIGSTSAPSLIFILPSIFYLRIVPSEVEPFLSWPKIQALCFGVLGV LFMAVSLGFMFANWATGQSRMSGH hide sequence

RefSeq Acc Id:

ENSP00000481291 ⟸ ENST00000620913

RefSeq Acc Id:

ENSP00000471683 ⟸ ENST00000595796

RefSeq Acc Id:

ENSP00000484236 ⟸ ENST00000622196

RefSeq Acc Id:

ENSP00000403976 ⟸ ENST00000413668

RefSeq Acc Id:

ENSP00000416948 ⟸ ENST00000429543

RefSeq Acc Id:

ENSP00000402988 ⟸ ENST00000440085

RefSeq Acc Id:

ENSP00000482638 ⟸ ENST00000494034

RefSeq Acc Id:

ENSP00000407258 ⟸ ENST00000441948

RefSeq Acc Id:

ENSP00000389644 ⟸ ENST00000416711

RefSeq Acc Id:

ENSP00000478807 ⟸ ENST00000619100

RefSeq Acc Id:

ENSP00000483716 ⟸ ENST00000488083

RefSeq Acc Id:	XP_054184097 ⟸ XM_054328122
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054184095 ⟸ XM_054328120
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054184094 ⟸ XM_054328119
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054184096 ⟸ XM_054328121
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054184099 ⟸ XM_054328124
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054184100 ⟸ XM_054328125
- Peptide Label:	isoform X6
- UniProtKB:	Q8WYU2 (UniProtKB/Swiss-Prot), Q8WUX1 (UniProtKB/Swiss-Prot), Q6PIW9 (UniProtKB/Swiss-Prot), B7WPJ9 (UniProtKB/Swiss-Prot), B5MDE6 (UniProtKB/Swiss-Prot), B3KT20 (UniProtKB/Swiss-Prot), Q96PQ4 (UniProtKB/Swiss-Prot), A0A024QYY0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054184098 ⟸ XM_054328123
- Peptide Label:	isoform X4

Protein Domains

Amino acid transporter transmembrane

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WUX1-F1-model_v2	AlphaFold	Q8WUX1	1-472	view protein structure

Promoters

RGD ID:

6809272

Promoter ID:

HG_KWN:66667

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000060718, OTTHUMT00000060719

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,203,906 - 48,205,287 (-)	MPROMDB

RGD ID:

6809273

Promoter ID:

HG_KWN:66668

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562

Transcripts:

ENST00000376875, OTTHUMT00000060721, OTTHUMT00000060723

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,210,789 - 48,211,289 (-)	MPROMDB

RGD ID:

6808665

Promoter ID:

HG_KWN:66669

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000317669, NM_033518, OTTHUMT00000060714, OTTHUMT00000060715, OTTHUMT00000060716, OTTHUMT00000060717, OTTHUMT00000060720, OTTHUMT00000060722, OTTHUMT00000060724

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,211,706 - 48,214,257 (-)	MPROMDB

RGD ID:

13605212

Promoter ID:

EPDNEW_H28789

Type:

initiation region

Name:

SLC38A5_1

Description:

solute carrier family 38 member 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28790

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,469,413 - 48,469,473	EPDNEW

RGD ID:

13605210

Promoter ID:

EPDNEW_H28790

Type:

initiation region

Name:

SLC38A5_2

Description:

solute carrier family 38 member 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28789

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,470,255 - 48,470,315	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18070	AgrOrtholog
COSMIC	SLC38A5	COSMIC
Ensembl Genes	ENSG00000017483	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000389644.1	UniProtKB/TrEMBL
	ENSP00000402988.1	UniProtKB/TrEMBL
	ENSP00000403976.1	UniProtKB/TrEMBL
	ENSP00000407258.1	UniProtKB/TrEMBL
	ENSP00000416948.1	UniProtKB/TrEMBL
	ENSP00000471683.1	UniProtKB/Swiss-Prot
	ENSP00000478807	ENTREZGENE
	ENSP00000478807.1	UniProtKB/Swiss-Prot
	ENSP00000481291	ENTREZGENE
	ENSP00000481291.1	UniProtKB/Swiss-Prot
	ENSP00000482638.1	UniProtKB/TrEMBL
	ENSP00000483716.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000413668.5	UniProtKB/TrEMBL
	ENST00000416711.5	UniProtKB/TrEMBL
	ENST00000429543.2	UniProtKB/TrEMBL
	ENST00000440085.5	UniProtKB/TrEMBL
	ENST00000441948.5	UniProtKB/TrEMBL
	ENST00000488083.5	UniProtKB/TrEMBL
	ENST00000494034.5	UniProtKB/TrEMBL
	ENST00000595796.5	UniProtKB/Swiss-Prot
	ENST00000619100	ENTREZGENE
	ENST00000619100.4	UniProtKB/Swiss-Prot
	ENST00000620913	ENTREZGENE
	ENST00000620913.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000017483	GTEx
HGNC ID	HGNC:18070	ENTREZGENE
Human Proteome Map	SLC38A5	Human Proteome Map
InterPro	AA_transpt_TM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:92745	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	92745	ENTREZGENE
OMIM	300649	OMIM
PANTHER	AMINO ACID TRANSPORTER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SODIUM-COUPLED NEUTRAL AMINO ACID TRANSPORTER 5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Aa_trans	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38289	PharmGKB
UniProt	A0A024QYY0	ENTREZGENE, UniProtKB/TrEMBL
	A0A087WZF9_HUMAN	UniProtKB/TrEMBL
	B3KT20	ENTREZGENE
	B5MDE6	ENTREZGENE
	B7WPJ9	ENTREZGENE
	C9JHH7_HUMAN	UniProtKB/TrEMBL
	C9JJU1_HUMAN	UniProtKB/TrEMBL
	C9JMY2_HUMAN	UniProtKB/TrEMBL
	C9JNK4_HUMAN	UniProtKB/TrEMBL
	C9JWG4_HUMAN	UniProtKB/TrEMBL
	Q6PIW9	ENTREZGENE
	Q8WUX1	ENTREZGENE
	Q8WYU2	ENTREZGENE
	Q96PQ4	ENTREZGENE
	S38A5_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B3KT20	UniProtKB/Swiss-Prot
	B5MDE6	UniProtKB/Swiss-Prot
	B7WPJ9	UniProtKB/Swiss-Prot
	Q6PIW9	UniProtKB/Swiss-Prot
	Q8WYU2	UniProtKB/Swiss-Prot
	Q96PQ4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	SLC38A5	solute carrier family 38 member 5		solute carrier family 38, member 5	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Imported Disease Annotations - ClinVar

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