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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28284560 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28284560 | |
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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 |
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 |
SRPX (Homo sapiens - human) |
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Srpx (Mus musculus - house mouse) |
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Srpx (Rattus norvegicus - Norway rat) |
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Srpx (Chinchilla lanigera - long-tailed chinchilla) |
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SRPX (Pan paniscus - bonobo/pygmy chimpanzee) |
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SRPX (Canis lupus familiaris - dog) |
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Srpx (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SRPX (Sus scrofa - pig) |
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SRPX (Chlorocebus sabaeus - African green monkey) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Srpx (Heterocephalus glaber - naked mole-rat) |
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DXS1450 |
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WI-18588 |
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SRPX_8801 |
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DXS9858 |
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DXS9859 |
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DXS9860 |
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DXS9861 |
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DXS9862 |
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DXS9863 |
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DXS9864 |
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DXS9865 |
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SHGC-36486 |
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RH79074 |
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SRPX |
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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. |
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 |
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 |
RefSeq Acc Id: | ENST00000378533 ⟹ ENSP00000367794 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000432886 ⟹ ENSP00000411165 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000461865 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000479015 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000538295 ⟹ ENSP00000445034 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000544439 ⟹ ENSP00000440758 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001170750 ⟹ NP_001164221 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001170751 ⟹ NP_001164222 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001170752 ⟹ NP_001164223 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_006307 ⟹ NP_006298 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029893 ⟹ XP_016885382 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
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 |
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 |
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: |
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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 |
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 |
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 |