SRPX (sushi repeat containing protein X-linked) - Rat Genome Database

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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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX38,149,336 - 38,220,924 (-)EnsemblGRCh38hg38GRCh38
GRCh38X38,149,339 - 38,220,881 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,008,592 - 38,080,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,893,536 - 37,965,075 (-)NCBINCBI36hg18NCBI36
Build 34X37,764,808 - 37,836,348NCBI
CeleraX42,146,231 - 42,217,816 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,753,942 - 35,824,499 (-)NCBIHuRef
CHM1_1X38,039,638 - 38,111,226 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX38,149,336 - 38,220,924 (-)EnsemblGRCh38hg38GRCh38
GRCh38X38,149,339 - 38,220,881 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,008,592 - 38,080,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,893,536 - 37,965,075 (-)NCBINCBI36hg18NCBI36
Build 34X37,764,808 - 37,836,348NCBI
CeleraX42,146,231 - 42,217,816 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,753,942 - 35,824,499 (-)NCBIHuRef
CHM1_1X38,039,638 - 38,111,226 (-)NCBICHM1_1
Srpx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X9,904,216 - 9,983,879 (-)NCBIGRCm39mm39
GRCm39 EnsemblX9,904,216 - 9,983,948 (-)Ensembl
GRCm38X10,037,977 - 10,117,640 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX10,037,977 - 10,117,709 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X9,615,103 - 9,694,787 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X9,194,936 - 9,274,620 (-)NCBImm8
MGSCv36X7,112,076 - 7,194,962 (-)NCBImm8
CeleraX7,749,827 - 7,822,706 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Srpx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X12,676,984 - 12,751,296 (+)NCBI
Rnor_6.0 EnsemblX14,150,038 - 14,220,662 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X14,146,618 - 14,220,756 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X14,932,352 - 15,003,129 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X24,833,279 - 24,904,349 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X24,886,676 - 24,957,818 (+)NCBI
CeleraX13,286,935 - 13,357,502 (+)NCBICelera
Cytogenetic MapXq12NCBI
Srpx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955601286,069 - 364,235 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955601286,092 - 364,235 (-)NCBIChiLan1.0ChiLan1.0
SRPX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X38,306,862 - 38,378,770 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX38,303,313 - 38,378,770 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X30,598,574 - 30,670,464 (-)NCBIMhudiblu_PPA_v0panPan3
SRPX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X32,905,380 - 33,017,642 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,745,020 - 33,330,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX20,254,098 - 20,366,305 (-)NCBI
ROS_Cfam_1.0X32,954,258 - 33,066,884 (-)NCBI
UMICH_Zoey_3.1X33,033,807 - 33,146,001 (-)NCBI
UNSW_CanFamBas_1.0X33,005,675 - 33,117,858 (-)NCBI
UU_Cfam_GSD_1.0X33,047,347 - 33,159,926 (-)NCBI
Srpx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X25,169,985 - 25,266,489 (-)NCBI
SpeTri2.0NW_0049365025,010,692 - 5,107,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRPX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX34,075,577 - 34,198,467 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X34,075,577 - 34,198,462 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,892,766 - 38,008,122 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SRPX
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Srpx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,240,899 - 17,347,430 (+)NCBI

Position Markers
DXS1450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,013,078 - 38,013,148UniSTSGRCh37
Build 36X37,898,022 - 37,898,092RGDNCBI36
CeleraX42,150,721 - 42,150,791RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,758,394 - 35,758,464UniSTS
WI-18588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,008,646 - 38,008,747UniSTSGRCh37
Build 36X37,893,590 - 37,893,691RGDNCBI36
CeleraX42,146,289 - 42,146,390RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,754,000 - 35,754,100UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
Whitehead-RH MapX33.3UniSTS
SRPX_8801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,008,500 - 38,009,116UniSTSGRCh37
Build 36X37,893,444 - 37,894,060RGDNCBI36
CeleraX42,146,143 - 42,146,759RGD
HuRefX35,753,854 - 35,754,493UniSTS
DXS9858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,037,470 - 38,037,668UniSTSGRCh37
Build 36X37,922,414 - 37,922,612RGDNCBI36
CeleraX42,175,112 - 42,175,310RGD
HuRefX35,782,785 - 35,782,983UniSTS
DXS9859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,033,331 - 38,033,673UniSTSGRCh37
Build 36X37,918,275 - 37,918,617RGDNCBI36
CeleraX42,170,974 - 42,171,316RGD
HuRefX35,778,647 - 35,778,989UniSTS
DXS9860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,031,063 - 38,031,380UniSTSGRCh37
Build 36X37,916,007 - 37,916,324RGDNCBI36
CeleraX42,168,706 - 42,169,023RGD
HuRefX35,776,379 - 35,776,696UniSTS
DXS9861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,023,955 - 38,024,221UniSTSGRCh37
Build 36X37,908,899 - 37,909,165RGDNCBI36
CeleraX42,161,597 - 42,161,863RGD
HuRefX35,769,270 - 35,769,536UniSTS
DXS9862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,020,136 - 38,020,390UniSTSGRCh37
Build 36X37,905,080 - 37,905,334RGDNCBI36
CeleraX42,157,779 - 42,158,033RGD
HuRefX35,765,452 - 35,765,706UniSTS
DXS9863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,019,231 - 38,019,492UniSTSGRCh37
Build 36X37,904,175 - 37,904,436RGDNCBI36
CeleraX42,156,874 - 42,157,135RGD
HuRefX35,764,547 - 35,764,808UniSTS
DXS9864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,016,107 - 38,016,334UniSTSGRCh37
Build 36X37,901,051 - 37,901,278RGDNCBI36
CeleraX42,153,750 - 42,153,977RGD
HuRefX35,761,423 - 35,761,650UniSTS
DXS9865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,013,692 - 38,013,870UniSTSGRCh37
Build 36X37,898,636 - 37,898,814RGDNCBI36
CeleraX42,151,335 - 42,151,513RGD
HuRefX35,759,008 - 35,759,186UniSTS
SHGC-36486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,008,663 - 38,008,739UniSTSGRCh37
Build 36X37,893,607 - 37,893,683RGDNCBI36
CeleraX42,146,306 - 42,146,382RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,754,017 - 35,754,092UniSTS
Stanford-G3 RH MapX1582.0UniSTS
NCBI RH MapX525.7UniSTS
GeneMap99-G3 RH MapX780.0UniSTS
RH79074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,008,790 - 38,008,911UniSTSGRCh37
Build 36X37,893,734 - 37,893,855RGDNCBI36
CeleraX42,146,433 - 42,146,554RGD
Cytogenetic MapXp21.1UniSTS
GeneMap99-GB4 RH MapX112.8UniSTS
SRPX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,019,391 - 38,020,264UniSTSGRCh37
CeleraX42,157,034 - 42,157,907UniSTS
HuRefX35,764,707 - 35,765,580UniSTS

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 4 2
Medium 2251 2192 1154 287 233 145 3808 1652 1406 115 980 1377 153 1 1202 2285 4 2
Low 146 179 543 313 670 296 544 535 2314 284 451 180 21 502
Below cutoff 35 597 24 22 781 22 1 6 14 17 23 47 1 1

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 AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,339 - 38,220,871 (-)Ensembl
RefSeq Acc Id: ENST00000432886   ⟹   ENSP00000411165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,336 - 38,220,924 (-)Ensembl
RefSeq Acc Id: ENST00000461865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,631 - 38,154,581 (-)Ensembl
RefSeq Acc Id: ENST00000479015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,351 - 38,160,098 (-)Ensembl
RefSeq Acc Id: ENST00000538295   ⟹   ENSP00000445034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,336 - 38,220,924 (-)Ensembl
RefSeq Acc Id: ENST00000544439   ⟹   ENSP00000440758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX38,149,336 - 38,220,924 (-)Ensembl
RefSeq Acc Id: NM_001170750   ⟹   NP_001164221
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,149,339 - 38,220,871 (-)NCBI
GRCh37X38,008,588 - 38,080,177 (-)ENTREZGENE
HuRefX35,753,942 - 35,824,499 (-)ENTREZGENE
CHM1_1X38,039,638 - 38,111,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170751   ⟹   NP_001164222
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,149,339 - 38,220,871 (-)NCBI
GRCh37X38,008,588 - 38,080,177 (-)ENTREZGENE
HuRefX35,753,942 - 35,824,499 (-)ENTREZGENE
CHM1_1X38,039,638 - 38,111,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170752   ⟹   NP_001164223
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,149,339 - 38,220,871 (-)NCBI
GRCh37X38,008,588 - 38,080,177 (-)ENTREZGENE
HuRefX35,753,942 - 35,824,499 (-)ENTREZGENE
CHM1_1X38,039,638 - 38,111,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006307   ⟹   NP_006298
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,149,339 - 38,220,871 (-)NCBI
GRCh37X38,008,588 - 38,080,177 (-)ENTREZGENE
Build 36X37,893,536 - 37,965,075 (-)NCBI Archive
HuRefX35,753,942 - 35,824,499 (-)ENTREZGENE
CHM1_1X38,039,638 - 38,111,226 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029893   ⟹   XP_016885382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X38,153,947 - 38,220,881 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001164221   ⟸   NM_001170750
- Peptide Label: isoform 2 precursor
- UniProtKB: P78539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164222   ⟸   NM_001170751
- Peptide Label: isoform 3 precursor
- UniProtKB: P78539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164223   ⟸   NM_001170752
- Peptide Label: isoform 4 precursor
- UniProtKB: P78539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006298   ⟸   NM_006307
- Peptide Label: isoform 1 precursor
- UniProtKB: P78539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885382   ⟸   XM_017029893
- Peptide Label: isoform X1
- 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 AssemblyChrPosition (strand)Source
GRCh38X38,220,860 - 38,220,920EPDNEW

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

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