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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
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Gene Annotator (Functional Annotation) |
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 InterViewer (Protein-Protein Interactions) unavailable |
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InterViewer (Protein-Protein Interactions) |
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 Gene Annotator (Annotation Comparison) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
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 MOET (Multi-Ontology Enrichement) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cocaine-Related Disorders | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15091342 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Peterson YK, etal., J Biol Chem 2000 Oct 27;275(43):33193-6. |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 11024022 11278352 11832491 12477932 12642577 12719437 12826607 12925752 14530282 14684460 14994339 15489334 15537540 16189514 16458856 17991770 18029348 18566450 20065032 20126274 20237496 20305814 20488951 20700046 20716524 21145461 21209316 22074847 23718855 23945395 24307516 24510965 25416956 25480567 25740824 25812748 25921289 26186194 26673895 26987813 27270970 28514442 28675297 29892012 30561431 31091453 31215992 31959871 32296183 |
Comparative Map Data| GPSM1 (Homo sapiens - human) |
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| Gpsm1 (Mus musculus - house mouse) |
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| Gpsm1 (Rattus norvegicus - Norway rat) |
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| Gpsm1 (Chinchilla lanigera - long-tailed chinchilla) |
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| GPSM1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GPSM1 (Canis lupus familiaris - dog) |
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| Gpsm1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GPSM1 (Sus scrofa - pig) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GPSM1 (Chlorocebus sabaeus - African green monkey) |
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| Gpsm1 (Heterocephalus glaber - naked mole-rat) |
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Position Markers| SHGC-149982 |
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miRNA Target Status
| 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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RNA-SEQ Expression| 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 | 1526 | 1739 | 979 | 78 | 309 | 51 | 2513 | 1099 | 3036 | 154 | 1333 | 1333 | 38 | 590 | 1547 | 1 | ||
| Low | 888 | 1045 | 736 | 534 | 947 | 403 | 1792 | 1040 | 698 | 264 | 124 | 278 | 137 | 1 | 614 | 1190 | 4 | 1 |
| Below cutoff | 21 | 206 | 11 | 11 | 488 | 11 | 51 | 58 | 1 | 3 | 2 | 51 | 1 |
Nucleotide Sequences| RefSeq Transcripts | NG_028088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001145638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001145639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001200003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_015597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC174065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AL117478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL545250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL592301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY173053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC017257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC017353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC048343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BI766024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BQ214873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU631041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX649589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000291775 ⟹ ENSP00000291775 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000354753 ⟹ ENSP00000346797 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000392944 ⟹ ENSP00000376673 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000429455 ⟹ ENSP00000390705 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000440944 ⟹ ENSP00000392828 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000616132 ⟹ ENSP00000479405 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001145638 ⟹ NP_001139110 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
GCGCGGGCGGCGGTGACATCACGGCCACGGCGGCGGGAGGGGCGGCGGCGCCCCGCGCACATCAhide sequence |
| RefSeq Acc Id: | NM_001145639 ⟹ NP_001139111 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
GGCGGTGGTGGCCCTGGGCACCTTGTGTCCTGCCTGCGCTCTGTGTGGCCAAGCACCCAGCGTGhide sequence |
| RefSeq Acc Id: | NM_001200003 ⟹ NP_001186932 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
GGTGAGGGCTGTGTAGGGCATGGACACAGGGAGCTCATGGCAGGGCTGACACAGGGTGTGGTGGhide sequence |
| RefSeq Acc Id: | NM_015597 ⟹ NP_056412 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGCGGGCGGCGGTGACATCACGGCCACGGCGGCGGGAGGGGCGGCGGCGCCCCGCGCACATCAhide sequence |
| RefSeq Acc Id: | XM_011518498 ⟹ XP_011516800 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GCCTGGGGCCTGGCGATGCCATCCCCTGCTGGGGAGGGCCCGCCTCTGGCCCTGAGCTTGGCGGhide sequence |
| RefSeq Acc Id: | XM_017014598 ⟹ XP_016870087 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
GATGGAGGCGTCCTGCCTAGAGCTGGCGCTGGAGGGCGAGCGTCTGTGCAAGGCGGGCGACTTChide sequence |
| RefSeq Acc Id: | XM_017014599 ⟹ XP_016870088 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
AGTGGGTGGGTAGGGGATGGGCTGGAATGTGCCCCCCAGGATGTCCAGGCCTATTTCTACCCAThide sequence |
| RefSeq Acc Id: | XM_024447499 ⟹ XP_024303267 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
CAGTGGGTGGGTAGGGGATGGGCTGGAATGTGCCCCCCAGGATGTCCAGGCCTATTTCTACCCAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001139110 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001139111 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001186932 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_056412 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516800 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870087 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870088 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303267 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH09979 | (Get FASTA) | NCBI Sequence Viewer |
| AAH17353 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH48343 | (Get FASTA) | NCBI Sequence Viewer | |
| AAO17260 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB55951 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88216 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88217 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88218 | (Get FASTA) | NCBI Sequence Viewer | |
| Q86YR5 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001139110 ⟸ NM_001145638 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q86YR5 (UniProtKB/Swiss-Prot), A0A0A0MSK4 (UniProtKB/TrEMBL) |
| - Sequence: |
MAGPAPPAADELPGPAARRLYSRMEASCLELALEGERLCKAGDFKTGVAFFEAAVQVGTEDLKThide sequence |
| RefSeq Acc Id: | NP_056412 ⟸ NM_015597 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q86YR5 (UniProtKB/Swiss-Prot), A0A087WVF5 (UniProtKB/TrEMBL) |
| - Sequence: |
MAGPAPPAADELPGPAARRLYSRMEASCLELALEGERLCKAGDFKTGVAFFEAAVQVGTEDLKThide sequence |
| RefSeq Acc Id: | NP_001139111 ⟸ NM_001145639 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q86YR5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDDQRCPLDDGQAGAAEATAAPTLEDRIAQPSMTASPQTEEFFDLIASSQSRRLDDQRASVGSLhide sequence |
| RefSeq Acc Id: | NP_001186932 ⟸ NM_001200003 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q86YR5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDDQRCPLDDGQAGAAEATAAPTLEDRIAQPSMTASPQTEEFFDLIASSQSRRLDDQRASVGSLhide sequence |
| RefSeq Acc Id: | XP_011516800 ⟸ XM_011518498 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A0A0MRC4 (UniProtKB/TrEMBL) |
| - Sequence: |
MPSPAGEGPPLALSLAEKAVCKVVYGAPRPRPLLLPVGLELWLYVQKMRNLQRKRMEASCLELAhide sequence |
| RefSeq Acc Id: | XP_016870087 ⟸ XM_017014598 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEASCLELALEGERLCKAGDFKTGVAFFEAAVQVGTEDLKTLSAIYSQLGNAYFYLKEHGRALEhide sequence |
| RefSeq Acc Id: | XP_016870088 ⟸ XM_017014599 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q86YR5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDDQRCPLDDGQAGAAEATAAPTLEDRIAQPSMTASPQTEEFFDLIASSQSRRLDDQRASVGSLhide sequence |
| RefSeq Acc Id: | XP_024303267 ⟸ XM_024447499 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MDDQRCPLDDGQAGAAEATAAPTLEDRIAQPSMTASPQTEEFFDLIASSQSRRLDDQRASVGSLhide sequence |
| RefSeq Acc Id: | ENSP00000291775 ⟸ ENST00000291775 |
| RefSeq Acc Id: | ENSP00000392828 ⟸ ENST00000440944 |
| RefSeq Acc Id: | ENSP00000390705 ⟸ ENST00000429455 |
| RefSeq Acc Id: | ENSP00000479405 ⟸ ENST00000616132 |
| RefSeq Acc Id: | ENSP00000376673 ⟸ ENST00000392944 |
| RefSeq Acc Id: | ENSP00000346797 ⟸ ENST00000354753 |
Promoters| RGD ID: | 7216635 | ||||||||
| Promoter ID: | EPDNEW_H14063 | ||||||||
| Type: | initiation region | ||||||||
| Name: | GPSM1_1 | ||||||||
| Description: | G protein signaling modulator 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H14064 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| RGD ID: | 7216637 | ||||||||
| Promoter ID: | EPDNEW_H14064 | ||||||||
| Type: | initiation region | ||||||||
| Name: | GPSM1_2 | ||||||||
| Description: | G protein signaling modulator 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H14063 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| RGD ID: | 6807852 | ||||||||
| Promoter ID: | HG_KWN:65574 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, NB4 | ||||||||
| Transcripts: | ENST00000392945, NM_001145638, NR_026964 | ||||||||
| Position: |
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| RGD ID: | 6815667 | ||||||||
| Promoter ID: | HG_MRA:16799 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | K562 | ||||||||
| Transcripts: | AL117478 | ||||||||
| Position: |
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| RGD ID: | 6807751 | ||||||||
| Promoter ID: | HG_KWN:65576 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell | ||||||||
| Transcripts: | NM_001145639 | ||||||||
| Position: |
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| RGD ID: | 6807581 | ||||||||
| Promoter ID: | HG_KWN:65577 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Lymphoblastoid | ||||||||
| Transcripts: | ENST00000392944 | ||||||||
| Position: |
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| RGD ID: | 6813639 | ||||||||
| Promoter ID: | HG_ACW:82976 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | K562 | ||||||||
| Transcripts: | GPSM1.CAPR07-UNSPLICED | ||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000050344] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 | copy number loss | See cases [RCV000051116] | Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | copy number loss | See cases [RCV000052936] | Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 | copy number loss | See cases [RCV000052937] | Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] | Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1 | copy number loss | See cases [RCV000052939] | Chr9:136323542..136565950 [GRCh38] Chr9:139217996..139460402 [GRCh37] Chr9:138337817..138580223 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 | copy number gain | See cases [RCV000053779] | Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 | copy number gain | See cases [RCV000053814] | Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3 | copy number gain | See cases [RCV000134910] | Chr9:135164984..136437047 [GRCh38] Chr9:138056830..139331499 [GRCh37] Chr9:137196651..138451320 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 | copy number gain | See cases [RCV000137825] | Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 | copy number gain | See cases [RCV000139807] | Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 | copy number gain | See cases [RCV000142955] | Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 | copy number gain | See cases [RCV000143394] | Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000148284] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 | copy number loss | See cases [RCV000446074] | Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 | copy number loss | See cases [RCV000510584] | Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 | copy number gain | See cases [RCV000511188] | Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139124856-139279173)x3 | copy number gain | not provided [RCV000753188] | Chr9:139124856..139279173 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139144609-139296485)x3 | copy number gain | not provided [RCV000753190] | Chr9:139144609..139296485 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139253068-139259249)x0 | copy number loss | not provided [RCV000753191] | Chr9:139253068..139259249 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139144609-139265596)x3 | copy number gain | not provided [RCV000753189] | Chr9:139144609..139265596 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139089445-139295282)x3 | copy number gain | not provided [RCV000749810] | Chr9:139089445..139295282 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 | copy number loss | not provided [RCV000748787] | Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NC_000009.11:g.(?_138683633)_(139440248_?)del | deletion | Adams-Oliver syndrome 5 [RCV000793489] | Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_138594085)_(139440258_?)dup | duplication | Early infantile epileptic encephalopathy 14 [RCV000817958] | Chr9:138594085..139440258 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138683633)_(139440248_?)dup | duplication | Adams-Oliver syndrome 5 [RCV000811364] | Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
| NC_000009.11:g.(?_138594085)_(140062314_?)dup | duplication | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] | Chr9:138594085..140062314 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138645763)_(140729425_?)del | deletion | Kleefstra syndrome 1 [RCV001031921] | Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138225001-141015001) | copy number loss | Microcephaly [RCV001252947] | Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:17858 | AgrOrtholog |
| COSMIC | GPSM1 | COSMIC |
| Ensembl Genes | ENSG00000160360 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| Ensembl Protein | ENSP00000291775 | UniProtKB/Swiss-Prot |
| ENSP00000346797 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000376673 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000390705 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000392828 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000479405 | ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000291775 | UniProtKB/Swiss-Prot |
| ENST00000354753 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000392944 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000429455 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000440944 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000616132 | ENTREZGENE, UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.25.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| GTEx | ENSG00000160360 | GTEx |
| HGNC ID | HGNC:17858 | ENTREZGENE |
| Human Proteome Map | GPSM1 | Human Proteome Map |
| InterPro | GoLoco_motif | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| TPR-contain_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| TPR-like_helical_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| TPR_repeat | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| KEGG Report | hsa:26086 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| NCBI Gene | 26086 | ENTREZGENE |
| OMIM | 609491 | OMIM |
| Pfam | GoLoco | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| PharmGKB | PA134986171 | PharmGKB |
| PROSITE | GOLOCO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| TPR_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| SMART | GoLoco | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| TPR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| Superfamily-SCOP | SSF48452 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| UniGene | Hs.239370 | ENTREZGENE |
| UniProt | A0A087WVF5 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0A0MRC4 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A0A0MSK4 | ENTREZGENE, UniProtKB/TrEMBL | |
| GPSM1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | A9Z1X4 | UniProtKB/Swiss-Prot |
| B1B0W3 | UniProtKB/Swiss-Prot | |
| Q86SR5 | UniProtKB/Swiss-Prot | |
| Q969T1 | UniProtKB/Swiss-Prot | |
| Q9UFS8 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2017-04-18 | GPSM1 | G protein signaling modulator 1 | G-protein signaling modulator 1 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-07-27 | GPSM1 | G-protein signaling modulator 1 | GPSM1 | G-protein signaling modulator 1 (AGS3-like, C. elegans) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on GPSM1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
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|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1348855 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2020-10-20 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
