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Fusion gene ID: 33595 |
FusionGeneSummary for SGSM2_GAD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SGSM2_GAD1 | Fusion gene ID: 33595 | Hgene | Tgene | Gene symbol | SGSM2 | GAD1 | Gene ID | 9905 | 2571 |
| Gene name | small G protein signaling modulator 2 | glutamate decarboxylase 1 | |
| Synonyms | RUTBC1 | CPSQ1|GAD|SCP | |
| Cytomap | 17p13.3 | 2q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | small G protein signaling modulator 2RUN and TBC1 domain containing 1small G protein signaling modulator 2 protein | glutamate decarboxylase 167 kDa glutamic acid decarboxylaseGAD-67glutamate decarboxylase 1 (brain, 67kDa)glutamate decarboxylase 67 kDa isoform | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O43147 | Q99259 | |
| Ensembl transtripts involved in fusion gene | ENST00000268989, ENST00000426855, ENST00000574563, | ENST00000358196, ENST00000375272, ENST00000344257, ENST00000429023, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SGSM2 [Title/Abstract] AND GAD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AW162120 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 3UTR-3CDS | ENST00000268989 | ENST00000358196 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000268989 | ENST00000375272 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000268989 | ENST00000344257 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000268989 | ENST00000429023 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-3CDS | ENST00000426855 | ENST00000358196 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000426855 | ENST00000375272 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000426855 | ENST00000344257 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| 3UTR-intron | ENST00000426855 | ENST00000429023 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| intron-3CDS | ENST00000574563 | ENST00000358196 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| intron-intron | ENST00000574563 | ENST00000375272 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| intron-intron | ENST00000574563 | ENST00000344257 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
| intron-intron | ENST00000574563 | ENST00000429023 | SGSM2 | chr17 | 2284208 | - | GAD1 | chr2 | 171716272 | - |
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FusionProtFeatures for SGSM2_GAD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SGSM2 | GAD1 |
| Possesses GTPase activator activity towards RAB32,RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates thetrafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 tomelanosomes in melanocytes by inactivating RAB32 and RAB38.Inhibits RAB32 and RAB38 activation both directly by promotingtheir GTPase activity and indirectly by disrupting the RAB9A-HPS4interaction which is required for RAB32/38 activation(PubMed:26620560). {ECO:0000269|PubMed:21808068,ECO:0000269|PubMed:26620560}. | Catalyzes the production of GABA. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SGSM2_GAD1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SGSM2_GAD1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SGSM2_GAD1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | GAD1 | Q99259 | DB00114 | Pyridoxal Phosphate | Glutamate decarboxylase 1 | small molecule | approved|investigational|nutraceutical |
| Tgene | GAD1 | Q99259 | DB00114 | Pyridoxal Phosphate | Glutamate decarboxylase 1 | small molecule | approved|investigational|nutraceutical |
| Tgene | GAD1 | Q99259 | DB00142 | Glutamic Acid | Glutamate decarboxylase 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for SGSM2_GAD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GAD1 | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
| Tgene | GAD1 | C1269683 | Major Depressive Disorder | 6 | CTD_human;PSYGENET |
| Tgene | GAD1 | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
| Tgene | GAD1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Tgene | GAD1 | C0011570 | Mental Depression | 4 | PSYGENET |
| Tgene | GAD1 | C0011581 | Depressive disorder | 4 | PSYGENET |
| Tgene | GAD1 | C0036341 | Schizophrenia | 4 | CTD_human |
| Tgene | GAD1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | GAD1 | C0013386 | Dyskinesia, Drug-Induced | 1 | CTD_human |
| Tgene | GAD1 | C0020514 | Hyperprolactinemia | 1 | CTD_human |
| Tgene | GAD1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Tgene | GAD1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | GAD1 | C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | 1 | CTD_human;ORPHANET;UNIPROT |
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