SRPX (sushi repeat containing protein X-linked)

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Gene: SRPX (sushi repeat containing protein X-linked) Homo sapiens

Analyze

Symbol:

SRPX

Name:

sushi repeat containing protein X-linked

RGD ID:

733583

HGNC Page

HGNC

Description:

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in several processes, including negative regulation of cell proliferation involved in contact inhibition; phagolysosome assembly; and positive regulation of extrinsic apoptotic signaling pathway in absence of ligand. Localizes to collagen-containing extracellular matrix; INTERACTS WITH 17beta-estradiol; 3-isobutyl-1-methyl-7H-xanthine; 5-aza-2'-deoxycytidine.

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

DRS; epididymis secretory sperm binding protein Li 83p; ETX1; HEL-S-83p; SRPX1; sushi repeat containing protein, X-linked; sushi repeat-containing protein SRPX; sushi-repeat containing protein, X-linked; sushi-repeat-containing protein; sushi-repeat-containing protein, X chromosome; sushi-repeat-containing protein, X-linked

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

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.p13 Ensembl	X	38,149,336 - 38,220,924 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	38,149,339 - 38,220,881 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	38,008,592 - 38,080,124 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	37,893,536 - 37,965,075 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	37,764,808 - 37,836,348	NCBI
Celera	X	42,146,231 - 42,217,816 (-)	NCBI
Cytogenetic Map	X	p11.4	NCBI
HuRef	X	35,753,942 - 35,824,499 (-)	NCBI		HuRef
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI		CHM1_1

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)

Dwarfism (IAGP)

hepatocellular carcinoma (EXP)

Neurodevelopmental Disorders (IAGP)

ornithine carbamoyltransferase deficiency (IAGP)

retinitis pigmentosa 3 (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked chronic granulomatous disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine (ISO)

17beta-estradiol (EXP,ISO)

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

3,3',4,4',5-pentachlorobiphenyl (ISO)

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

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

5-azacytidine (EXP)

6-propyl-2-thiouracil (ISO)

acetylsalicylic acid (EXP)

aflatoxin B1 (EXP)

alachlor (ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

beta-naphthoflavone (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

carbamazepine (EXP)

chloropicrin (EXP)

choline (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

cyclosporin A (EXP)

dexamethasone (EXP,ISO)

diarsenic trioxide (EXP)

diuron (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

fenvalerate (ISO)

folic acid (ISO)

furan (ISO)

indometacin (EXP)

irinotecan (ISO)

L-methionine (ISO)

medroxyprogesterone acetate (EXP)

methamphetamine (ISO)

mifepristone (EXP)

oxaliplatin (ISO)

pentanal (EXP)

pioglitazone (ISO)

pirinixic acid (EXP)

progesterone (EXP,ISO)

propanal (EXP)

quercetin (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

tert-butyl hydroperoxide (EXP)

testosterone enanthate (EXP)

topotecan (ISO)

trichostatin A (EXP)

triclosan (EXP)

trimellitic anhydride (ISO)

troglitazone (EXP,ISO)

tunicamycin (EXP)

valproic acid (EXP)

vorinostat (EXP)

XL147 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagy (IEA,ISO)

cell adhesion (IEA)

negative regulation of cell proliferation involved in contact inhibition (IEA,ISO)

phagolysosome assembly (IEA,ISO)

positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (IEA,ISO)

response to endoplasmic reticulum stress (IEA,ISO)

Cellular Component

autophagosome (IEA)

cell surface (IEA)

collagen-containing extracellular matrix (HDA)

endoplasmic reticulum (IEA)

membrane (TAS)

Molecular Function

extracellular matrix structural constituent (RCA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

Short stature (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:209648	PMID:8634708	PMID:8634709	PMID:8889548	PMID:9162095	PMID:12152160	PMID:12477932	PMID:12493773	PMID:12716466	PMID:12874760	PMID:15021917	PMID:15489334
PMID:15772651	PMID:16344560	PMID:19424611	PMID:19596235	PMID:19615732	PMID:19862339	PMID:20406461	PMID:21145461	PMID:25037231	PMID:28478503	PMID:31638245

Genomics

Comparative Map Data

SRPX
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	38,149,336 - 38,220,924 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	38,149,339 - 38,220,881 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	38,008,592 - 38,080,124 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	37,893,536 - 37,965,075 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	37,764,808 - 37,836,348	NCBI
Celera	X	42,146,231 - 42,217,816 (-)	NCBI
Cytogenetic Map	X	p11.4	NCBI
HuRef	X	35,753,942 - 35,824,499 (-)	NCBI		HuRef
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI		CHM1_1

Srpx
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	9,904,216 - 9,983,879 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	9,904,216 - 9,983,948 (-)	Ensembl
GRCm38	X	10,037,977 - 10,117,640 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	10,037,977 - 10,117,709 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	9,615,103 - 9,694,787 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	9,194,936 - 9,274,620 (-)	NCBI			mm8
MGSCv36	X	7,112,076 - 7,194,962 (-)	NCBI			mm8
Celera	X	7,749,827 - 7,822,706 (-)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI

Srpx
(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	12,676,984 - 12,751,296 (+)	NCBI
Rnor_6.0 Ensembl	X	14,150,038 - 14,220,662 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	14,146,618 - 14,220,756 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	14,932,352 - 15,003,129 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	24,833,279 - 24,904,349 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	X	24,886,676 - 24,957,818 (+)	NCBI
Celera	X	13,286,935 - 13,357,502 (+)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Srpx
(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_004955601	286,069 - 364,235 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955601	286,092 - 364,235 (-)	NCBI	ChiLan1.0	ChiLan1.0

SRPX
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	38,306,862 - 38,378,770 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	38,303,313 - 38,378,770 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	X	30,598,574 - 30,670,464 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

SRPX
(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	32,905,380 - 33,017,642 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	32,745,020 - 33,330,841 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	20,254,098 - 20,366,305 (-)	NCBI
ROS_Cfam_1.0	X	32,954,258 - 33,066,884 (-)	NCBI
UMICH_Zoey_3.1	X	33,033,807 - 33,146,001 (-)	NCBI
UNSW_CanFamBas_1.0	X	33,005,675 - 33,117,858 (-)	NCBI
UU_Cfam_GSD_1.0	X	33,047,347 - 33,159,926 (-)	NCBI

Srpx
(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	25,169,985 - 25,266,489 (-)	NCBI
SpeTri2.0	NW_004936502	5,010,692 - 5,107,221 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SRPX
(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	34,075,577 - 34,198,467 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	34,075,577 - 34,198,462 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	37,892,766 - 38,008,122 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SRPX
(Chlorocebus sabaeus - African green monkey)

No map positions available.

Srpx
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624762	17,240,899 - 17,347,430 (+)	NCBI

Position Markers

DXS1450

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,013,078 - 38,013,148	UniSTS	GRCh37
Build 36	X	37,898,022 - 37,898,092	RGD	NCBI36
Celera	X	42,150,721 - 42,150,791	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,758,394 - 35,758,464	UniSTS

WI-18588

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,008,646 - 38,008,747	UniSTS	GRCh37
Build 36	X	37,893,590 - 37,893,691	RGD	NCBI36
Celera	X	42,146,289 - 42,146,390	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,754,000 - 35,754,100	UniSTS
GeneMap99-GB4 RH Map	X	112.8	UniSTS
Whitehead-RH Map	X	33.3	UniSTS

SRPX_8801

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,008,500 - 38,009,116	UniSTS	GRCh37
Build 36	X	37,893,444 - 37,894,060	RGD	NCBI36
Celera	X	42,146,143 - 42,146,759	RGD
HuRef	X	35,753,854 - 35,754,493	UniSTS

DXS9858

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,037,470 - 38,037,668	UniSTS	GRCh37
Build 36	X	37,922,414 - 37,922,612	RGD	NCBI36
Celera	X	42,175,112 - 42,175,310	RGD
HuRef	X	35,782,785 - 35,782,983	UniSTS

DXS9859

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,033,331 - 38,033,673	UniSTS	GRCh37
Build 36	X	37,918,275 - 37,918,617	RGD	NCBI36
Celera	X	42,170,974 - 42,171,316	RGD
HuRef	X	35,778,647 - 35,778,989	UniSTS

DXS9860

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,031,063 - 38,031,380	UniSTS	GRCh37
Build 36	X	37,916,007 - 37,916,324	RGD	NCBI36
Celera	X	42,168,706 - 42,169,023	RGD
HuRef	X	35,776,379 - 35,776,696	UniSTS

DXS9861

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,023,955 - 38,024,221	UniSTS	GRCh37
Build 36	X	37,908,899 - 37,909,165	RGD	NCBI36
Celera	X	42,161,597 - 42,161,863	RGD
HuRef	X	35,769,270 - 35,769,536	UniSTS

DXS9862

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,020,136 - 38,020,390	UniSTS	GRCh37
Build 36	X	37,905,080 - 37,905,334	RGD	NCBI36
Celera	X	42,157,779 - 42,158,033	RGD
HuRef	X	35,765,452 - 35,765,706	UniSTS

DXS9863

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,019,231 - 38,019,492	UniSTS	GRCh37
Build 36	X	37,904,175 - 37,904,436	RGD	NCBI36
Celera	X	42,156,874 - 42,157,135	RGD
HuRef	X	35,764,547 - 35,764,808	UniSTS

DXS9864

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,016,107 - 38,016,334	UniSTS	GRCh37
Build 36	X	37,901,051 - 37,901,278	RGD	NCBI36
Celera	X	42,153,750 - 42,153,977	RGD
HuRef	X	35,761,423 - 35,761,650	UniSTS

DXS9865

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,013,692 - 38,013,870	UniSTS	GRCh37
Build 36	X	37,898,636 - 37,898,814	RGD	NCBI36
Celera	X	42,151,335 - 42,151,513	RGD
HuRef	X	35,759,008 - 35,759,186	UniSTS

SHGC-36486

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,008,663 - 38,008,739	UniSTS	GRCh37
Build 36	X	37,893,607 - 37,893,683	RGD	NCBI36
Celera	X	42,146,306 - 42,146,382	RGD
Cytogenetic Map	X	p21.1	UniSTS
HuRef	X	35,754,017 - 35,754,092	UniSTS
Stanford-G3 RH Map	X	1582.0	UniSTS
NCBI RH Map	X	525.7	UniSTS
GeneMap99-G3 RH Map	X	780.0	UniSTS

RH79074

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,008,790 - 38,008,911	UniSTS	GRCh37
Build 36	X	37,893,734 - 37,893,855	RGD	NCBI36
Celera	X	42,146,433 - 42,146,554	RGD
Cytogenetic Map	X	p21.1	UniSTS
GeneMap99-GB4 RH Map	X	112.8	UniSTS

SRPX

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	38,019,391 - 38,020,264	UniSTS	GRCh37
Celera	X	42,157,034 - 42,157,907	UniSTS
HuRef	X	35,764,707 - 35,765,580	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1196
Count of miRNA genes:	443
Interacting mature miRNAs:	481
Transcripts:	ENST00000343800, ENST00000378533, ENST00000432886, ENST00000461865, ENST00000479015, ENST00000538295, ENST00000544439
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.

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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2251

2192

1154

287

233

145

3808

1652

1406

115

980

1377

153

1202

2285

Low

146

179

543

313

670

296

544

535

2314

284

451

180

502

Below cutoff

597

781

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001170750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001170751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001170752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK125542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL606748	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL627246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM672597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA422854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC388035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU668359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S82496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U61374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U78093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000378533 ⟹ ENSP00000367794

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,339 - 38,220,871 (-)	Ensembl

RefSeq Acc Id:

ENST00000432886 ⟹ ENSP00000411165

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,336 - 38,220,924 (-)	Ensembl

RefSeq Acc Id:

ENST00000461865

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,631 - 38,154,581 (-)	Ensembl

RefSeq Acc Id:

ENST00000479015

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,351 - 38,160,098 (-)	Ensembl

RefSeq Acc Id:

ENST00000538295 ⟹ ENSP00000445034

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,336 - 38,220,924 (-)	Ensembl

RefSeq Acc Id:

ENST00000544439 ⟹ ENSP00000440758

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	38,149,336 - 38,220,924 (-)	Ensembl

RefSeq Acc Id:

NM_001170750 ⟹ NP_001164221

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,149,339 - 38,220,871 (-)	NCBI
GRCh37	X	38,008,588 - 38,080,177 (-)	ENTREZGENE
HuRef	X	35,753,942 - 35,824,499 (-)	ENTREZGENE
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI

Sequence:

show sequence

AGAGGCGAGAGGAGGAGTTTTCCAGCCCGGCCTTCGCCCGCCCGCTAGCACGCAGTCCCTTGGT
CTCTTCGGTCTCCTGCCGCCCCCGGGAAGCGCGCTGCGCTGCCGAGGCGAGCTAAGCGCCCGCT
CGCCATGGGGAGCCCCGCACATCGGCCCGCGCTGCTGCTGCTGCTGCCGCCTCTGCTGCTGCTG
CTGCTGCTGCGCGTCCCGCCCAGCCGCAGCTTCCCAGATACCCCGTGGTGCTCCCCCATCAAGG
TGAAGTATGGGGATGTGTACTGCAGGGCCCCTCAAGGAGGATACTACAAAACAGCCCTGGGAAC
CAGGTGCGACATTCGCTGCCAGAAGGGCTACGAGCTGCATGGCTCTTCCCTACTGATCTGCCAG
TCAAACAAACGATGGTCTGACAAGGTCATCTGCAAACAAAAGCGATGTCCTACCCTTGCCATGC
CAGCAAATGGAGGGTTTAAGTGTGTAGATGGTGCCTACTTTAACTCCCGGTGTGAGTATTATTG
TTCACCAGGATACACGTTGAAAGGGGAGCGGACCGTCACATGTATGGACAACAAGGCCTGGAGC
GGCCGGCCAGCCTCCTGTGTGGATATGGAACCTCCTAGAATCAAGTGCCCAAGTGTGAAGGAAC
GCATTGCAGAACCCAACAAACTGACAGTCCGGGTGTCCTGGGAGACACCCGAAGGAAGAGACAC
AGCAGATGGAATTCTTACTGATGTCATTCTAAAAGGCCTCCCCCCAGGCTCCAACTTTCCAGAA
GGAGACCACAAGATCCAGTACACAGTCTATGACAGAGCTGAGAATAAGGGCACTTGCAAATTTC
GAGTTAAAGTAAGAGTCAAACGCTGTGGCAAACTCAATGCCCCAGAGAATGGTTACATGAAGTG
CTCCAGCGACGGTGATAATTATGGAGCCACCTGTGAGTTCTCCTGCATCGGCGGCTATGAGCTC
CAGGGTAGCCCTGCCCGAGTATGTCAATCCAACCTGGCTTGGTCTGGCACGGAGCCCACCTGTG
CAGCCATGAACGTCAATGTGGGTGTCAGAACGGCAGCTGCACTTCTGGATCAGTTTTATGAGAA
AAGGAGACTCCTCATTGTGTCCACACCCACAGCCCGAAACCTCCTTTACCGGCTCCAGCTAGGA
ATGCTGCAGCAAGCACAGTGTGGCCTTGATCTTCGACACATCACCGTGGTGGAGCTGGTGGGTG
TGTTCCCGACTCTCATTGGCAGGATAGGAGCAAAGATTATGCCTCCAGCCCTAGCGCTGCAGCT
CAGGCTGTTGCTGCGAATCCCACTCTACTCCTTCAGTATGGTGCTAGTGGATAAGCATGGCATG
GACAAAGAGCGCTATGTCTCCCTGGTGATGCCTGTGGCCCTGTTCAACCTGATTGACACTTTTC
CCTTGAGAAAAGAAGAGATGGTCCTACAAGCCGAAATGAGCCAGACCTGTAACACCTGACATGA
TGGTTCCTCTCTTGGCAATTCCTCTTCATTGTCTACATAGTGACATGCACACGGGAAAGCCTTA
AAAATATCCTTGATGTACAGATTTTATTTGTAATTTTAAAAGTCTATTTTATTATGAGCTTTCT
TTGCACTTAAAAATTAGCATGCTGCTTTTTGTACTTGGAAGTGTTTCAAAAAATTATATGACCA
TATTTACTCTTTCTAACTTTCTTTACTCCATCATGGCTGCTTGATTTTGTAGAGAAATTAGAAC
CCATAACCATACACAGGCTATCAACATGTTATTCAATGTGACACCTAACTCTTTTCTATTTTGT
TTTTTAAGTAAGACTTTTATTAATAAAACAAAATGTTTTGGAGCAAATTTAAAAAAAAAAAAAA
AAAA

hide sequence

RefSeq Acc Id:

NM_001170751 ⟹ NP_001164222

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,149,339 - 38,220,871 (-)	NCBI
GRCh37	X	38,008,588 - 38,080,177 (-)	ENTREZGENE
HuRef	X	35,753,942 - 35,824,499 (-)	ENTREZGENE
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI

Sequence:

show sequence

AGAGGCGAGAGGAGGAGTTTTCCAGCCCGGCCTTCGCCCGCCCGCTAGCACGCAGTCCCTTGGT
CTCTTCGGTCTCCTGCCGCCCCCGGGAAGCGCGCTGCGCTGCCGAGGCGAGCTAAGCGCCCGCT
CGCCATGGGGAGCCCCGCACATCGGCCCGCGCTGCTGCTGCTGCTGCCGCCTCTGCTGCTGCTG
CTGCTGCTGCGCGTCCCGCCCAGCCGCAGCTTCCCAGGATCGGGAGACTCACCACTAGAAGACG
ATGAAGTCGGGTATTCACACCCTAGATATAAAGATACCCCGTGGTGCTCCCCCATCAAGGTGAA
GTATGGGGATGTGTACTGCAGGGCCCCTCAAGGAGGATACTACAAAACAGCCCTGGGAACCAGG
TGCGACATTCGCTGCCAGAAGGGCTACGAGCTGCATGGCTCTTCCCTACTGATCTGCCAGTCAA
ACAAACGATGGTCTGACAAGGTCATCTGCAAACATATGGAACCTCCTAGAATCAAGTGCCCAAG
TGTGAAGGAACGCATTGCAGAACCCAACAAACTGACAGTCCGGGTGTCCTGGGAGACACCCGAA
GGAAGAGACACAGCAGATGGAATTCTTACTGATGTCATTCTAAAAGGCCTCCCCCCAGGCTCCA
ACTTTCCAGAAGGAGACCACAAGATCCAGTACACAGTCTATGACAGAGCTGAGAATAAGGGCAC
TTGCAAATTTCGAGTTAAAGTAAGAGTCAAACGCTGTGGCAAACTCAATGCCCCAGAGAATGGT
TACATGAAGTGCTCCAGCGACGGTGATAATTATGGAGCCACCTGTGAGTTCTCCTGCATCGGCG
GCTATGAGCTCCAGGGTAGCCCTGCCCGAGTATGTCAATCCAACCTGGCTTGGTCTGGCACGGA
GCCCACCTGTGCAGCCATGAACGTCAATGTGGGTGTCAGAACGGCAGCTGCACTTCTGGATCAG
TTTTATGAGAAAAGGAGACTCCTCATTGTGTCCACACCCACAGCCCGAAACCTCCTTTACCGGC
TCCAGCTAGGAATGCTGCAGCAAGCACAGTGTGGCCTTGATCTTCGACACATCACCGTGGTGGA
GCTGGTGGGTGTGTTCCCGACTCTCATTGGCAGGATAGGAGCAAAGATTATGCCTCCAGCCCTA
GCGCTGCAGCTCAGGCTGTTGCTGCGAATCCCACTCTACTCCTTCAGTATGGTGCTAGTGGATA
AGCATGGCATGGACAAAGAGCGCTATGTCTCCCTGGTGATGCCTGTGGCCCTGTTCAACCTGAT
TGACACTTTTCCCTTGAGAAAAGAAGAGATGGTCCTACAAGCCGAAATGAGCCAGACCTGTAAC
ACCTGACATGATGGTTCCTCTCTTGGCAATTCCTCTTCATTGTCTACATAGTGACATGCACACG
GGAAAGCCTTAAAAATATCCTTGATGTACAGATTTTATTTGTAATTTTAAAAGTCTATTTTATT
ATGAGCTTTCTTTGCACTTAAAAATTAGCATGCTGCTTTTTGTACTTGGAAGTGTTTCAAAAAA
TTATATGACCATATTTACTCTTTCTAACTTTCTTTACTCCATCATGGCTGCTTGATTTTGTAGA
GAAATTAGAACCCATAACCATACACAGGCTATCAACATGTTATTCAATGTGACACCTAACTCTT
TTCTATTTTGTTTTTTAAGTAAGACTTTTATTAATAAAACAAAATGTTTTGGAGCAAATTTAAA
AAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001170752 ⟹ NP_001164223

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,149,339 - 38,220,871 (-)	NCBI
GRCh37	X	38,008,588 - 38,080,177 (-)	ENTREZGENE
HuRef	X	35,753,942 - 35,824,499 (-)	ENTREZGENE
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI

Sequence:

show sequence

AGAGGCGAGAGGAGGAGTTTTCCAGCCCGGCCTTCGCCCGCCCGCTAGCACGCAGTCCCTTGGT
CTCTTCGGTCTCCTGCCGCCCCCGGGAAGCGCGCTGCGCTGCCGAGGCGAGCTAAGCGCCCGCT
CGCCATGGGGAGCCCCGCACATCGGCCCGCGCTGCTGCTGCTGCTGCCGCCTCTGCTGCTGCTG
CTGCTGCTGCGCGTCCCGCCCAGCCGCAGCTTCCCAGGATCGGGAGACTCACCACTAGAAGACG
ATGAAGTCGGGTATTCACACCCTAGATATAAAGATACCCCGTGGTGCTCCCCCATCAAGGTGAA
GTATGGGGATGTGTACTGCAGGGCCCCTCAAGGAGGATACTACAAAACAGCCCTGGGAACCAGG
TGCGACATTCGCTGCCAGAAGGGCTACGAGCTGCATGGCTCTTCCCTACTGATCTGCCAGTCAA
ACAAACGATGGTCTGACAAGGTCATCTGCAAACAAAAGCGATGTCCTACCCTTGCCATGCCAGC
AAATGGAGGGTTTAAGTGTGTAGATGGTGCCTACTTTAACTCCCGGTGTGAGTATTATTGTTCA
CCAGGATACACGTTGAAAGGGGAGCGGACCGTCACATGTATGGACAACAAGGCCTGGAGCGGCC
GGCCAGCCTCCTGTGTGGATATGGAACCTCCTAGAATCAAGTGCCCAAGTGTGAAGGAACGCAT
TGCAGAACCCAACAAACTGACAGTCCGGGTGTCCTGGGAGACACCCGAAGGAAGAGACACAGCA
GATGGAATTCTTACTGATGTCATTCTAAAAGGCCTCCCCCCAGGCTCCAACTTTCCAGAAGGAG
ACCACAAGATCCAGTACACAGTCTATGACAGAGCTGAGAATAAGGGCACTTGCAAATTTCGAGT
TAAAGTAAGAGTCAAACGCTGTGGCAAACTCAATGCCCCAGAGAATGGTTACATGAAGTGCTCC
AGCGACGGTGATAATTATGGAGCCACCTGTGAGTTCTCCTGCATCGGCGGCTATGAGCTCCAGG
GTAGCCCTGCCCGAGTATGTCAATCCAACCTGGCTTGGTCTGGCACGGAGCCCACCTGTGCAGC
CATGAACGTCAATGTGGGTGTCAGAACGGCAGCTGCACTTCTGGATCAGTTTTATGAGAAAAGG
AGACTCCTCATTGTGTCCACACCCACAGCCCGAAACCTCCTTTACCGGCTCCAGCTAGGAATGC
TGCAGGCTGTTGCTGCGAATCCCACTCTACTCCTTCAGTATGGTGCTAGTGGATAAGCATGGCA
TGGACAAAGAGCGCTATGTCTCCCTGGTGATGCCTGTGGCCCTGTTCAACCTGATTGACACTTT
TCCCTTGAGAAAAGAAGAGATGGTCCTACAAGCCGAAATGAGCCAGACCTGTAACACCTGACAT
GATGGTTCCTCTCTTGGCAATTCCTCTTCATTGTCTACATAGTGACATGCACACGGGAAAGCCT
TAAAAATATCCTTGATGTACAGATTTTATTTGTAATTTTAAAAGTCTATTTTATTATGAGCTTT
CTTTGCACTTAAAAATTAGCATGCTGCTTTTTGTACTTGGAAGTGTTTCAAAAAATTATATGAC
CATATTTACTCTTTCTAACTTTCTTTACTCCATCATGGCTGCTTGATTTTGTAGAGAAATTAGA
ACCCATAACCATACACAGGCTATCAACATGTTATTCAATGTGACACCTAACTCTTTTCTATTTT
GTTTTTTAAGTAAGACTTTTATTAATAAAACAAAATGTTTTGGAGCAAATTTAAAAAAAAAAAA
AAAAAA

hide sequence

RefSeq Acc Id:

NM_006307 ⟹ NP_006298

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,149,339 - 38,220,871 (-)	NCBI
GRCh37	X	38,008,588 - 38,080,177 (-)	ENTREZGENE
Build 36	X	37,893,536 - 37,965,075 (-)	NCBI Archive
HuRef	X	35,753,942 - 35,824,499 (-)	ENTREZGENE
CHM1_1	X	38,039,638 - 38,111,226 (-)	NCBI

Sequence:

show sequence

AGAGGCGAGAGGAGGAGTTTTCCAGCCCGGCCTTCGCCCGCCCGCTAGCACGCAGTCCCTTGGT
CTCTTCGGTCTCCTGCCGCCCCCGGGAAGCGCGCTGCGCTGCCGAGGCGAGCTAAGCGCCCGCT
CGCCATGGGGAGCCCCGCACATCGGCCCGCGCTGCTGCTGCTGCTGCCGCCTCTGCTGCTGCTG
CTGCTGCTGCGCGTCCCGCCCAGCCGCAGCTTCCCAGGATCGGGAGACTCACCACTAGAAGACG
ATGAAGTCGGGTATTCACACCCTAGATATAAAGATACCCCGTGGTGCTCCCCCATCAAGGTGAA
GTATGGGGATGTGTACTGCAGGGCCCCTCAAGGAGGATACTACAAAACAGCCCTGGGAACCAGG
TGCGACATTCGCTGCCAGAAGGGCTACGAGCTGCATGGCTCTTCCCTACTGATCTGCCAGTCAA
ACAAACGATGGTCTGACAAGGTCATCTGCAAACAAAAGCGATGTCCTACCCTTGCCATGCCAGC
AAATGGAGGGTTTAAGTGTGTAGATGGTGCCTACTTTAACTCCCGGTGTGAGTATTATTGTTCA
CCAGGATACACGTTGAAAGGGGAGCGGACCGTCACATGTATGGACAACAAGGCCTGGAGCGGCC
GGCCAGCCTCCTGTGTGGATATGGAACCTCCTAGAATCAAGTGCCCAAGTGTGAAGGAACGCAT
TGCAGAACCCAACAAACTGACAGTCCGGGTGTCCTGGGAGACACCCGAAGGAAGAGACACAGCA
GATGGAATTCTTACTGATGTCATTCTAAAAGGCCTCCCCCCAGGCTCCAACTTTCCAGAAGGAG
ACCACAAGATCCAGTACACAGTCTATGACAGAGCTGAGAATAAGGGCACTTGCAAATTTCGAGT
TAAAGTAAGAGTCAAACGCTGTGGCAAACTCAATGCCCCAGAGAATGGTTACATGAAGTGCTCC
AGCGACGGTGATAATTATGGAGCCACCTGTGAGTTCTCCTGCATCGGCGGCTATGAGCTCCAGG
GTAGCCCTGCCCGAGTATGTCAATCCAACCTGGCTTGGTCTGGCACGGAGCCCACCTGTGCAGC
CATGAACGTCAATGTGGGTGTCAGAACGGCAGCTGCACTTCTGGATCAGTTTTATGAGAAAAGG
AGACTCCTCATTGTGTCCACACCCACAGCCCGAAACCTCCTTTACCGGCTCCAGCTAGGAATGC
TGCAGCAAGCACAGTGTGGCCTTGATCTTCGACACATCACCGTGGTGGAGCTGGTGGGTGTGTT
CCCGACTCTCATTGGCAGGATAGGAGCAAAGATTATGCCTCCAGCCCTAGCGCTGCAGCTCAGG
CTGTTGCTGCGAATCCCACTCTACTCCTTCAGTATGGTGCTAGTGGATAAGCATGGCATGGACA
AAGAGCGCTATGTCTCCCTGGTGATGCCTGTGGCCCTGTTCAACCTGATTGACACTTTTCCCTT
GAGAAAAGAAGAGATGGTCCTACAAGCCGAAATGAGCCAGACCTGTAACACCTGACATGATGGT
TCCTCTCTTGGCAATTCCTCTTCATTGTCTACATAGTGACATGCACACGGGAAAGCCTTAAAAA
TATCCTTGATGTACAGATTTTATTTGTAATTTTAAAAGTCTATTTTATTATGAGCTTTCTTTGC
ACTTAAAAATTAGCATGCTGCTTTTTGTACTTGGAAGTGTTTCAAAAAATTATATGACCATATT
TACTCTTTCTAACTTTCTTTACTCCATCATGGCTGCTTGATTTTGTAGAGAAATTAGAACCCAT
AACCATACACAGGCTATCAACATGTTATTCAATGTGACACCTAACTCTTTTCTATTTTGTTTTT
TAAGTAAGACTTTTATTAATAAAACAAAATGTTTTGGAGCAAATTTAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017029893 ⟹ XP_016885382

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,153,947 - 38,220,881 (-)	NCBI

Sequence:

show sequence

GCTAGCACGCAGTCCCTTGGTCTCTTCGGTCTCCTGCCGCCCCCGGGAAGCGCGCTGCGCTGCC
GAGGCGAGCTAAGCGCCCGCTCGCCATGGGGAGCCCCGCACATCGGCCCGCGCTGCTGCTGCTG
CTGCCGCCTCTGCTGCTGCTGCTGCTGCTGCGCGTCCCGCCCAGCCGCAGCTTCCCAGGATCGG
GAGACTCACCACTAGAAGACGATGAAGTCGGGTATTCACACCCTAGATATAAAGATACCCCGTG
GTGCTCCCCCATCAAGGTGAAGTATGGGGATGTGTACTGCAGGGCCCCTCAAGGAGGATACTAC
AAAACAGCCCTGGGAACCAGGTGCGACATTCGCTGCCAGAAGGGCTACGAGCTGCATGGCTCTT
CCCTACTGATCTGCCAGTCAAACAAACGATGGTCTGACAAGGTCATCTGCAAACAAAAGCGATG
TCCTACCCTTGCCATGCCAGCAAATGGAGGGTTTAAGTGTGTAGATGGTGCCTACTTTAACTCC
CGGTGTGAGTATTATTGTTCACCAGGATACACGTTGAAAGGGGAGCGGACCGTCACATGTATGG
ACAACAAGGCCTGGAGCGGCCGGCCAGCCTCCTGTGTGGATATGGAACCTCCTAGAATCAAGTG
CCCAAGTGTGAAGGAACGCATTGCAGAACCCAACAAACTGACAGTCCGGGTGTCCTGGGAGACA
CCCGAAGGAAGAGACACAGCAGATGGAATTCTTACTGATGTCATTCTAAAAGGCCTCCCCCCAG
GCTCCAACTTTCCAGAAGGAGACCACAAGATCCAGTACACAGTCTATGACAGAGCTGAGAATAA
GGGCACTTGCAAATTTCGAGTTAAAGTAAGAGTCAAACGCTGTGGCAAACTCAATGCCCCAGAG
AATGGTTACATGAAGTGCTCCAGCGACGGTGATAATTATGGAGCCACCTGTGAGTTCTCCTGCA
TCGGCGGCTATGAGCTCCAGGGTAGCCCTGCCCGAGTATGTCAATCCAACCTGGCTTGGTCTGG
CACGGAGCCCACCTGTGCAGCCATGAACGTCAATGTGGGTGTCAGAACGGCAGCTGCACTTCTG
GATCAGTTTTATGAGAAAAGGAGACTCCTCATTGTGTCCACACCCACAGCCCGAAACCTCCTTT
ACCGGCTCCAGCTAGGAATGCTGCAGCAAGCACAGTGTGGCCTTGATCTTCGACACATCACCGT
GGTGGAGCTGGTGGGTGTGTTCCCGACTCTCATTGGCAGGATAGGAGCAAAGATTATGCCTCCA
GCCCTAGCGCTGCAGCTCAGTTTCATAACCCTTACAAAGTTGGAGCCATGGATTTTAGTCTCTG
AATAATGATGTATTAAAGAAGCAGAATTCAACAACCAAAAGG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001164221	(Get FASTA)	NCBI Sequence Viewer
	NP_001164222	(Get FASTA)	NCBI Sequence Viewer
	NP_001164223	(Get FASTA)	NCBI Sequence Viewer
	NP_006298	(Get FASTA)	NCBI Sequence Viewer
	XP_016885382	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB36685	(Get FASTA)	NCBI Sequence Viewer
	AAB37378	(Get FASTA)	NCBI Sequence Viewer
	AAB37379	(Get FASTA)	NCBI Sequence Viewer
	AAB40715	(Get FASTA)	NCBI Sequence Viewer
	AAH20684	(Get FASTA)	NCBI Sequence Viewer
	ACF94512	(Get FASTA)	NCBI Sequence Viewer
	BAF82119	(Get FASTA)	NCBI Sequence Viewer
	BAG54210	(Get FASTA)	NCBI Sequence Viewer
	BAG56679	(Get FASTA)	NCBI Sequence Viewer
	BAG60937	(Get FASTA)	NCBI Sequence Viewer
	EAW59445	(Get FASTA)	NCBI Sequence Viewer
	EAW59446	(Get FASTA)	NCBI Sequence Viewer
	EAW59447	(Get FASTA)	NCBI Sequence Viewer
	P78539	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001164221 ⟸ NM_001170750
- Peptide Label:	isoform 2 precursor
- UniProtKB:	P78539 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPDTPWCSPIKVKYGDVYCRAPQGGYYKTALGTR CDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRCPTLAMPANGGFKCVDGAYFNSRCEYYCS PGYTLKGERTVTCMDNKAWSGRPASCVDMEPPRIKCPSVKERIAEPNKLTVRVSWETPEGRDTA DGILTDVILKGLPPGSNFPEGDHKIQYTVYDRAENKGTCKFRVKVRVKRCGKLNAPENGYMKCS SDGDNYGATCEFSCIGGYELQGSPARVCQSNLAWSGTEPTCAAMNVNVGVRTAAALLDQFYEKR RLLIVSTPTARNLLYRLQLGMLQQAQCGLDLRHITVVELVGVFPTLIGRIGAKIMPPALALQLR LLLRIPLYSFSMVLVDKHGMDKERYVSLVMPVALFNLIDTFPLRKEEMVLQAEMSQTCNT hide sequence

RefSeq Acc Id:	NP_001164222 ⟸ NM_001170751
- Peptide Label:	isoform 3 precursor
- UniProtKB:	P78539 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPIKVKY GDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKHMEPPRIKCPSV KERIAEPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYTVYDRAENKGTC KFRVKVRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSPARVCQSNLAWSGTEP TCAAMNVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLGMLQQAQCGLDLRHITVVEL VGVFPTLIGRIGAKIMPPALALQLRLLLRIPLYSFSMVLVDKHGMDKERYVSLVMPVALFNLID TFPLRKEEMVLQAEMSQTCNT hide sequence

RefSeq Acc Id:	NP_001164223 ⟸ NM_001170752
- Peptide Label:	isoform 4 precursor
- UniProtKB:	P78539 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPIKVKY GDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRCPTLAMPAN GGFKCVDGAYFNSRCEYYCSPGYTLKGERTVTCMDNKAWSGRPASCVDMEPPRIKCPSVKERIA EPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYTVYDRAENKGTCKFRVK VRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSPARVCQSNLAWSGTEPTCAAM NVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLGMLQAVAANPTLLLQYGASG hide sequence

RefSeq Acc Id:	NP_006298 ⟸ NM_006307
- Peptide Label:	isoform 1 precursor
- UniProtKB:	P78539 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPIKVKY GDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRCPTLAMPAN GGFKCVDGAYFNSRCEYYCSPGYTLKGERTVTCMDNKAWSGRPASCVDMEPPRIKCPSVKERIA EPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYTVYDRAENKGTCKFRVK VRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSPARVCQSNLAWSGTEPTCAAM NVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLGMLQQAQCGLDLRHITVVELVGVFP TLIGRIGAKIMPPALALQLRLLLRIPLYSFSMVLVDKHGMDKERYVSLVMPVALFNLIDTFPLR KEEMVLQAEMSQTCNT hide sequence

RefSeq Acc Id:

XP_016885382 ⟸ XM_017029893

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPIKVKY
GDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRCPTLAMPAN
GGFKCVDGAYFNSRCEYYCSPGYTLKGERTVTCMDNKAWSGRPASCVDMEPPRIKCPSVKERIA
EPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYTVYDRAENKGTCKFRVK
VRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSPARVCQSNLAWSGTEPTCAAM
NVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLGMLQQAQCGLDLRHITVVELVGVFP
TLIGRIGAKIMPPALALQLSFITLTKLEPWILVSE

hide sequence

RefSeq Acc Id:

ENSP00000440758 ⟸ ENST00000544439

RefSeq Acc Id:

ENSP00000367794 ⟸ ENST00000378533

RefSeq Acc Id:

ENSP00000445034 ⟸ ENST00000538295

RefSeq Acc Id:

ENSP00000411165 ⟸ ENST00000432886

Protein Domains

HYR Sushi

Promoters

RGD ID:

13605044

Promoter ID:

EPDNEW_H28706

Type:

initiation region

Name:

SRPX_1

Description:

sushi repeat containing protein, X-linked

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	38,220,860 - 38,220,920	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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:10679-156013167)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:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 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:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	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 Xp22.11-11.4(chrX:22420237-38834728)x1	copy number loss	See cases [RCV000053063]	ChrX:22420237..38834728 [GRCh38] ChrX:22438354..38693981 [GRCh37] ChrX:22348275..38578925 [NCBI36] ChrX:Xp22.11-11.4	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 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_006307.4(SRPX):c.623G>A (p.Gly208Glu)	single nucleotide variant	Malignant melanoma [RCV000073187]	ChrX:38164799 [GRCh38] ChrX:38024052 [GRCh37] ChrX:37908996 [NCBI36] ChrX:Xp11.4	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:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xp22.33-11.23(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 Xp22.33-11.21(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 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-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 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 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 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 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-11.22(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 Xp21.1-11.4(chrX:37723259-38263335)x2	copy number gain	See cases [RCV000136935]	ChrX:37723259..38263335 [GRCh38] ChrX:37669767..38122588 [GRCh37] ChrX:37467451..38007532 [NCBI36] ChrX:Xp21.1-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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: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 Xp22.33-11.23(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-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 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 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
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 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
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 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:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [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: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:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..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:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..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 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	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 Xp22.33-11.21(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 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 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 Xp21.1-11.3(chrX:36667388-44316141)x1	copy number loss	See cases [RCV000446005]	ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3	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 Xp22.33-11.1(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:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2	copy number gain	See cases [RCV000510479]	ChrX:37584811..38467647 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 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 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	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 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp11.4(chrX:37785553-38011836)x2	copy number gain	not provided [RCV000684319]	ChrX:37785553..38011836 [GRCh37] ChrX:Xp11.4	uncertain significance
GRCh37/hg19 Xp11.4(chrX:37785553-38011836)x3	copy number gain	not provided [RCV000684320]	ChrX:37785553..38011836 [GRCh37] ChrX:Xp11.4	likely benign
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
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp)	single nucleotide variant	Short stature [RCV000736240]	ChrX:38171899 [GRCh38] ChrX:38031152 [GRCh37] ChrX:Xp11.4	uncertain significance
NM_006307.5(SRPX):c.731G>C (p.Arg244Thr)	single nucleotide variant	Short stature [RCV000736241]	ChrX:38160977 [GRCh38] ChrX:38020230 [GRCh37] ChrX:Xp11.4	likely pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
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
NM_006307.5(SRPX):c.1032T>C (p.Ile344=)	single nucleotide variant	not provided [RCV000925796]	ChrX:38156953 [GRCh38] ChrX:38016206 [GRCh37] ChrX:Xp11.4	likely benign
NM_006307.5(SRPX):c.1257G>T (p.Val419=)	single nucleotide variant	not provided [RCV000903586]	ChrX:38149849 [GRCh38] ChrX:38009102 [GRCh37] ChrX:Xp11.4	likely benign
NM_006307.5(SRPX):c.673C>T (p.Pro225Ser)	single nucleotide variant	not provided [RCV000950301]	ChrX:38161035 [GRCh38] ChrX:38020288 [GRCh37] ChrX:Xp11.4	benign
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	copy number loss	not provided [RCV001007291]	ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3	pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated serum creatine phosphokinase [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely 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
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	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 Xp11.4(chrX:38056276-40565244)x3	copy number gain	not provided [RCV000845673]	ChrX:38056276..40565244 [GRCh37] ChrX:Xp11.4	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_006307.5(SRPX):c.1200G>A (p.Ala400=)	single nucleotide variant	not provided [RCV000918320]	ChrX:38154473 [GRCh38] ChrX:38013726 [GRCh37] ChrX:Xp11.4	benign
NM_006307.5(SRPX):c.98-3T>C	single nucleotide variant	not provided [RCV000958316]	ChrX:38178347 [GRCh38] ChrX:38037600 [GRCh37] ChrX:Xp11.4	benign
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
NC_000023.10:g.(?_30326313)_(41000684_?)del	deletion	Ornithine carbamoyltransferase deficiency [RCV001033914]	ChrX:30326313..41000684 [GRCh37] ChrX:Xp21.2-11.4	pathogenic
NC_000023.11:g.(?_37780009)_(38421102_?)del	deletion	Chronic granulomatous disease, X-linked [RCV001033901]	ChrX:37639262..38280355 [GRCh37] ChrX:Xp11.4	pathogenic
Single allele	deletion	Retinitis pigmentosa 15 [RCV001251576]	ChrX:35820200..38547007 [GRCh37] ChrX:Xp21.1-11.4	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	copy number gain	not provided [RCV001258967]	ChrX:37487291..38568933 [GRCh37] ChrX:Xp21.1-11.4	uncertain significance
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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11309	AgrOrtholog
COSMIC	SRPX	COSMIC
Ensembl Genes	ENSG00000101955	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000367794	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000411165	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000440758	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000445034	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000378533	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000432886	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000538295	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000544439	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000101955	GTEx
HGNC ID	HGNC:11309	ENTREZGENE
Human Proteome Map	SRPX	Human Proteome Map
InterPro	DUF4174	UniProtKB/Swiss-Prot
	HYR_dom	UniProtKB/Swiss-Prot
	SRPX	UniProtKB/Swiss-Prot
	SRPX-like	UniProtKB/Swiss-Prot
	Sushi/SCR/CCP_sf	UniProtKB/Swiss-Prot
	Sushi_SCR_CCP_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:8406	UniProtKB/Swiss-Prot
NCBI Gene	8406	ENTREZGENE
OMIM	300187	OMIM
PANTHER	PTHR46343	UniProtKB/Swiss-Prot
	PTHR46343:SF1	UniProtKB/Swiss-Prot
Pfam	DUF4174	UniProtKB/Swiss-Prot
	HYR	UniProtKB/Swiss-Prot
	Sushi	UniProtKB/Swiss-Prot
PharmGKB	PA36133	PharmGKB
PROSITE	HYR	UniProtKB/Swiss-Prot
	SUSHI	UniProtKB/Swiss-Prot
SMART	CCP	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57535	UniProtKB/Swiss-Prot
UniProt	P78539	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A8K065	UniProtKB/Swiss-Prot
	B3KWP8	UniProtKB/Swiss-Prot
	B4DDB8	UniProtKB/Swiss-Prot
	B4DQH5	UniProtKB/Swiss-Prot
	F5H4D7	UniProtKB/Swiss-Prot
	G3V1L0	UniProtKB/Swiss-Prot
	Q4VX66	UniProtKB/Swiss-Prot
	Q99652	UniProtKB/Swiss-Prot
	Q99913	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-05-01	SRPX	sushi repeat containing protein X-linked		sushi repeat containing protein, X-linked	Symbol and/or name change	5135510	APPROVED
2016-03-14	SRPX	sushi repeat containing protein, X-linked		sushi-repeat containing protein, X-linked	Symbol and/or name change	5135510	APPROVED
2011-07-27	SRPX	sushi-repeat containing protein, X-linked	SRPX	sushi-repeat-containing protein, X-linked	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 - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD