 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Disease AnnotationsGene-Chemical Interaction Annotations
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References - curatedReferences - uncuratedGenomics
Comparative Map Data| EOLA2 (Homo sapiens - human) |
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| Eola1 (Mus musculus - house mouse) |
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| Eola2 (Rattus norvegicus - Norway rat) |
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| EOLA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EOLA2 (Canis lupus familiaris - dog) |
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| Eola2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EOLA2 (Chlorocebus sabaeus - African green monkey) |
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Position Markers| RH16561 |
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| WI-11260 |
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| RH103556 |
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| WI-15826 |
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| G20875 |
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| A006J30 |
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| NIB220 |
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miRNA Target Status
Predicted Target Of
| 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. |
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Expression
RNA-SEQ ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
| High | ||||||||||||||||||
| Medium | 2359 | 2026 | 1549 | 457 | 1343 | 301 | 3683 | 1193 | 2538 | 369 | 1435 | 1603 | 170 | 1 | 1191 | 2118 | 5 | 2 |
| Low | 80 | 965 | 177 | 167 | 608 | 164 | 674 | 1004 | 1196 | 50 | 25 | 8 | 5 | 13 | 670 | 1 | ||
| Below cutoff | 2 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001013845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_005274698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005274699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005274700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005274701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005274702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006724826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011531180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011531181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029591 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024452391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC244099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK131413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM847839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX927209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L43575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L43578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U66042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U66083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000355203 ⟹ ENSP00000347339 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000370404 ⟹ ENSP00000359432 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000370406 ⟹ ENSP00000359434 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000370409 ⟹ ENSP00000474324 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000462691 ⟹ ENSP00000417546 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000483447 ⟹ ENSP00000474715 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000497550 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001013845 ⟹ NP_001013867 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATTACGCGCACACGTACGTTCCTCATGAAAGGGACGACGGGAGCTGCATGAAAGCCGAAGTTAThide sequence |
| RefSeq Acc Id: | XM_005274698 ⟹ XP_005274755 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GTGTACGTACGTGCGTGATTACGCGCACACGTACGTTCCTCATGAAAGGGACGACGGGAGCTGChide sequence |
| RefSeq Acc Id: | XM_005274699 ⟹ XP_005274756 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GCATGAAAGCCGAAGTTATGGACCGCTAGCATCTGTCACTGGCCACCGGTTTCCGGGAGTAAGChide sequence |
| RefSeq Acc Id: | XM_005274700 ⟹ XP_005274757 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_005274701 ⟹ XP_005274758 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_005274702 ⟹ XP_005274759 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CTCTGGGCTTAAAAATCCTGCCTGGTGGTCTCGTCCCGCCCCTCCTCTTCCTCCCTCCGGTTCChide sequence |
| RefSeq Acc Id: | XM_006724826 ⟹ XP_006724889 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CTCTGGGCTTAAAAATCCTGCCTGGTGGTCTCGTCCCGCCCCTCCTCTTCCTCCCTCCGGTTCChide sequence |
| RefSeq Acc Id: | XM_011531180 ⟹ XP_011529482 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GCGGGCTGGGGTTTCTTTCCCCTGGGTTTCGGGCAGAGAACCCGTGCGGGGCGCGCCCGAAGCGhide sequence |
| RefSeq Acc Id: | XM_011531181 ⟹ XP_011529483 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GTGTACGTACGTGCGTGATTACGCGCACACGTACGTTCCTCATGAAAGGGACGACGGGAGCTGChide sequence |
| RefSeq Acc Id: | XM_017029585 ⟹ XP_016885074 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_017029586 ⟹ XP_016885075 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
ATGAAAGGGACGACGGGAGCTGCATGAAAGCCGAAGTTATGGACCGCTAGCATCTGTCACTGGChide sequence |
| RefSeq Acc Id: | XM_017029588 ⟹ XP_016885077 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_017029589 ⟹ XP_016885078 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GCGGGCTGGGGTTTCTTTCCCCTGGGTTTCGGGCAGAGAACCCGTGCGGGGCGCGCCCGAAGCGhide sequence |
| RefSeq Acc Id: | XM_017029590 ⟹ XP_016885079 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GCATGAAAGCCGAAGTTATGGACCGCTAGCATCTGTCACTGGCCACCGGTTTCCGGGAGTAAGChide sequence |
| RefSeq Acc Id: | XM_017029591 ⟹ XP_016885080 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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||||||||
| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_017029592 ⟹ XP_016885081 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GTGTACGTACGTGCGTGATTACGCGCACACGTACGTTCCTCATGAAAGGGACGACGGGAGCTGChide sequence |
| RefSeq Acc Id: | XM_017029593 ⟹ XP_016885082 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CATTGGTTTCTCCCAGTTCCTTCCTGCTGGTCTCGCAGCTCTGGGCTTAAAAATCCTGCCTGGThide sequence |
| RefSeq Acc Id: | XM_024452391 ⟹ XP_024308159 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CAGCTCTGGGCTTAAAAATCCTGCCTGGTGGTCTCGTCCCGCCCCTCCTCTTCCTCCCTCCGGThide sequence |
Protein Sequences| Protein RefSeqs | NP_001013867 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005274755 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005274756 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005274757 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005274758 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005274759 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006724889 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011529482 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011529483 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885074 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885075 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885077 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885078 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885079 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885080 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885081 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885082 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024308159 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH09523 | (Get FASTA) | NCBI Sequence Viewer |
| Q96DE9 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001013867 ⟸ NM_001013845 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_005274757 ⟸ XM_005274700 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_005274755 ⟸ XM_005274698 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_005274756 ⟸ XM_005274699 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_005274759 ⟸ XM_005274702 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_006724889 ⟸ XM_006724826 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_005274758 ⟸ XM_005274701 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_011529483 ⟸ XM_011531181 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q5HY62 (UniProtKB/TrEMBL) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_011529482 ⟸ XM_011531180 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885082 ⟸ XM_017029593 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q5HY62 (UniProtKB/TrEMBL) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885081 ⟸ XM_017029592 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q5HY62 (UniProtKB/TrEMBL) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885079 ⟸ XM_017029590 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q5HY62 (UniProtKB/TrEMBL) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885080 ⟸ XM_017029591 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q5HY62 (UniProtKB/TrEMBL) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885075 ⟸ XM_017029586 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885074 ⟸ XM_017029585 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885077 ⟸ XM_017029588 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_016885078 ⟸ XM_017029589 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q96DE9 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | XP_024308159 ⟸ XM_024452391 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMThide sequence |
| RefSeq Acc Id: | ENSP00000417546 ⟸ ENST00000462691 |
| RefSeq Acc Id: | ENSP00000359432 ⟸ ENST00000370404 |
| RefSeq Acc Id: | ENSP00000359434 ⟸ ENST00000370406 |
| RefSeq Acc Id: | ENSP00000474324 ⟸ ENST00000370409 |
| RefSeq Acc Id: | ENSP00000474715 ⟸ ENST00000483447 |
| RefSeq Acc Id: | ENSP00000347339 ⟸ ENST00000355203 |
Protein Domains
ASCH
Promoters| RGD ID: | 6808613 | ||||||||
| Promoter ID: | HG_KWN:68397 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | ENST00000370404, OTTHUMT00000082896, OTTHUMT00000082899, OTTHUMT00000082900, OTTHUMT00000083080, UC004FDZ.1 | ||||||||
| Position: |
|
| RGD ID: | 13628322 | ||||||||
| Promoter ID: | EPDNEW_H29436 | ||||||||
| Type: | initiation region | ||||||||
| Name: | CXorf40B_1 | ||||||||
| Description: | chromosome X open reading frame 40B | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX: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: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: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:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 | copy number loss | See cases [RCV000051160] | ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] | ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 | copy number loss | See cases [RCV000051748] | ChrX:147151996..150364798 [GRCh38] ChrX:146041206..149283723 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 | copy number loss | See cases [RCV000051728] | ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 | copy number loss | See cases [RCV000051729] | ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 | copy number loss | See cases [RCV000051733] | ChrX:139230333..150628474 [GRCh38] ChrX:138312495..149782550 [GRCh37] ChrX:138140161..149547605 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 | copy number loss | See cases [RCV000051713] | ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX: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:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX: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 Xq28(chrX:149722144-150242706)x2 | copy number gain | See cases [RCV000052489] | ChrX:149722144..150242706 [GRCh38] ChrX:148603335..149161588 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 | copy number gain | See cases [RCV000052445] | ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 | copy number gain | See cases [RCV000052475] | ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:149570094-150326225)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|See cases [RCV000054285] | ChrX:149570094..150326225 [GRCh38] ChrX:148459544..149245119 [NCBI36] ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq28(chrX:149722144-150079450)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054286]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054286]|See cases [RCV000054286] | ChrX:149722144..150079450 [GRCh38] ChrX:148603535..148998339 [NCBI36] ChrX:Xq28 |
uncertain significance |
| 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 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 | copy number gain | See cases [RCV000133744] | ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 | copy number gain | See cases [RCV000133725] | ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 | copy number loss | See cases [RCV000134570] | ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 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-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 | copy number loss | See cases [RCV000135307] | ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 | copy number loss | See cases [RCV000134947] | ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 | copy number gain | See cases [RCV000136552] | ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 | copy number loss | See cases [RCV000136083] | ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 | copy number gain | See cases [RCV000136030] | ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 | copy number loss | See cases [RCV000136095] | ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 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 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 | copy number loss | See cases [RCV000136912] | ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 | copy number loss | See cases [RCV000137113] | ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:149570094-150079450)x3 | copy number gain | See cases [RCV000137090] | ChrX:149570094..150079450 [GRCh38] ChrX:148459544..148998339 [NCBI36] ChrX:Xq28 |
likely benign |
| GRCh38/hg38 Xq28(chrX:149722144-150326225)x3 | copy number gain | See cases [RCV000136897] | ChrX:149722144..150326225 [GRCh38] ChrX:148956425..149494461 [GRCh37] ChrX:148603535..149245119 [NCBI36] ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 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 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 | copy number loss | See cases [RCV000137415] | ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:149804813-150311286)x4 | copy number gain | See cases [RCV000137312] | ChrX:149804813..150311286 [GRCh38] ChrX:148956425..149479522 [GRCh37] ChrX:148694272..149230180 [NCBI36] ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 | copy number loss | See cases [RCV000137167] | ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 | copy number gain | See cases [RCV000138020] | ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 | copy number loss | See cases [RCV000137887] | ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 | copy number loss | See cases [RCV000138679] | ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 | copy number loss | See cases [RCV000138787] | ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 | copy number loss | See cases [RCV000138541] | ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 | copy number loss | See cases [RCV000139351] | ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 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 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 | copy number loss | See cases [RCV000141825] | ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 | copy number loss | See cases [RCV000142016] | ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 | copy number loss | See cases [RCV000141743] | ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 | copy number loss | See cases [RCV000142337] | ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 | copy number loss | See cases [RCV000142190] | ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 | copy number loss | See cases [RCV000142137] | ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 | copy number loss | See cases [RCV000142037] | ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 | copy number gain | See cases [RCV000143002] | ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 | copy number loss | See cases [RCV000142577] | ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 | copy number loss | See cases [RCV000143424] | ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)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-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 | copy number loss | See cases [RCV000143132] | ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX: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 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 | copy number loss | See cases [RCV000240337] | ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 | copy number loss | See cases [RCV000449365] | ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
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:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 | copy number gain | See cases [RCV000446471] | ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [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 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
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 Xq25-28(chrX:126773628-155233731)x1 | copy number loss | See cases [RCV000448724] | ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
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 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 | copy number loss | See cases [RCV000511572] | ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 | copy number loss | See cases [RCV000511490] | ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 | copy number loss | See cases [RCV000511228] | ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 | copy number gain | See cases [RCV000512365] | ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 | copy number loss | See cases [RCV000512372] | ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| Single allele | duplication | not provided [RCV000677960] | ChrX:148770810..149622233 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:147680249-149682911)x2 | copy number gain | not provided [RCV000684408] | ChrX:147680249..149682911 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:148639911-149404134)x2 | copy number gain | not provided [RCV000684412] | ChrX:148639911..149404134 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 | copy number loss | not provided [RCV000684357] | ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 | copy number loss | not provided [RCV000684363] | ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:148803804-149139251)x2 | copy number gain | not provided [RCV000753889] | ChrX:148803804..149139251 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:148842873-149108301)x3 | copy number gain | not provided [RCV000753891] | ChrX:148842873..149108301 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:148848730-149106148)x2 | copy number gain | not provided [RCV000753893] | ChrX:148848730..149106148 [GRCh37] ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
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 Xq13.2-28(chrX:73472626-155254881)x1 | copy number loss | not provided [RCV000753606] | ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)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 |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
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 |
| GRCh37/hg19 Xq28(chrX:149028747-149519123)x2 | copy number gain | not provided [RCV000848880] | ChrX:149028747..149519123 [GRCh37] ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 | copy number loss | not provided [RCV000845672] | ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 | copy number gain | not provided [RCV000846424] | ChrX:139513270..149234353 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 | copy number loss | not provided [RCV001007322] | ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:148972739-149446095)x3 | copy number gain | not provided [RCV001007361] | ChrX:148972739..149446095 [GRCh37] ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:17402 | AgrOrtholog |
| COSMIC | EOLA2 | COSMIC |
| Ensembl Genes | ENSG00000197021 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000347339 | UniProtKB/Swiss-Prot |
| ENSP00000359432 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000359434 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000417546 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000474324 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000474715 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000355203 | UniProtKB/Swiss-Prot |
| ENST00000370404 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000370406 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000370409 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000462691 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000483447 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000197021 | GTEx |
| HGNC ID | HGNC:17402 | ENTREZGENE |
| Human Proteome Map | EOLA2 | Human Proteome Map |
| InterPro | ASCH_domain | UniProtKB/Swiss-Prot |
| CXorf40 | UniProtKB/Swiss-Prot | |
| PUA-like_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:541578 | UniProtKB/Swiss-Prot |
| NCBI Gene | 541578 | ENTREZGENE |
| PANTHER | PTHR31666 | UniProtKB/Swiss-Prot |
| PharmGKB | PA142672057 | PharmGKB |
| SMART | ASCH | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF88697 | UniProtKB/Swiss-Prot |
| UniGene | Hs.458216 | ENTREZGENE |
| Hs.545950 | ENTREZGENE | |
| UniProt | CX04B_HUMAN | UniProtKB/Swiss-Prot |
| Q5HY62 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q96DE9 | ENTREZGENE | |
| S4R3G8_HUMAN | UniProtKB/TrEMBL | |
| S4R3T8_HUMAN | UniProtKB/TrEMBL |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-11-05 | EOLA2 | endothelium and lymphocyte associated ASCH domain 2 | CXorf40B | chromosome X open reading frame 40B | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on EOLA2 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1604879 |
| Created: | 2007-04-28 |
| Species: | Homo sapiens |
| Last Modified: | 2020-05-05 |
| Status: | ACTIVE |
