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Fusion gene ID: 12688 |
FusionGeneSummary for FAM193A_SGSM2 |
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Fusion gene information | Fusion gene name: FAM193A_SGSM2 | Fusion gene ID: 12688 | Hgene | Tgene | Gene symbol | FAM193A | SGSM2 | Gene ID | 8603 | 9905 |
Gene name | family with sequence similarity 193 member A | small G protein signaling modulator 2 | |
Synonyms | C4orf8|RES4-22 | RUTBC1 | |
Cytomap | 4p16.3 | 17p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FAM193A | small G protein signaling modulator 2RUN and TBC1 domain containing 1small G protein signaling modulator 2 protein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P78312 | O43147 | |
Ensembl transtripts involved in fusion gene | ENST00000545951, ENST00000382839, ENST00000324666, ENST00000502458, ENST00000505311, | ENST00000268989, ENST00000426855, ENST00000574563, | |
Fusion gene scores | * DoF score | 10 X 8 X 8=640 | 4 X 4 X 3=48 |
# samples | 11 | 4 | |
** MAII score | log2(11/640*10)=-2.5405683813627 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FAM193A [Title/Abstract] AND SGSM2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | CV571420 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5CDS-3UTR | ENST00000545951 | ENST00000268989 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000545951 | ENST00000426855 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-intron | ENST00000545951 | ENST00000574563 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000382839 | ENST00000268989 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000382839 | ENST00000426855 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-intron | ENST00000382839 | ENST00000574563 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000324666 | ENST00000268989 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000324666 | ENST00000426855 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-intron | ENST00000324666 | ENST00000574563 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000502458 | ENST00000268989 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000502458 | ENST00000426855 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-intron | ENST00000502458 | ENST00000574563 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000505311 | ENST00000268989 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-3UTR | ENST00000505311 | ENST00000426855 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
5CDS-intron | ENST00000505311 | ENST00000574563 | FAM193A | chr4 | 2661770 | + | SGSM2 | chr17 | 2282907 | + |
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FusionProtFeatures for FAM193A_SGSM2 |
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Hgene | Tgene |
FAM193A | SGSM2 |
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}. |
![]() * 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 FAM193A_SGSM2 |
![]() (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 FAM193A_SGSM2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FAM193A_SGSM2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FAM193A_SGSM2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |