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Fusion gene ID: 33688 |
FusionGeneSummary for SH3RF1_CMAS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3RF1_CMAS | Fusion gene ID: 33688 | Hgene | Tgene | Gene symbol | SH3RF1 | CMAS | Gene ID | 57630 | 55907 |
| Gene name | SH3 domain containing ring finger 1 | cytidine monophosphate N-acetylneuraminic acid synthetase | |
| Synonyms | POSH|RNF142|SH3MD2 | CSS | |
| Cytomap | 4q32.3-q33 | 12p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase SH3RF1RING-type E3 ubiquitin transferase SH3RF1SH3 domain-containing RING finger protein 1SH3 multiple domains 2SH3 multiple domains protein 2plenty of SH3 domainsplenty of SH3sputative E3 ubiquitin-protein ligase SH3RF1 | N-acylneuraminate cytidylyltransferaseCMP-N-acetylneuraminic acid synthaseCMP-N-acetylneuraminic acid synthetaseCMP-Neu5Ac synthetaseCMP-NeuNAc synthaseCMP-NeuNAc synthetaseCMP-sialic acid synthetasecytidine 5'-monophosphate N-acetylneuraminic acid | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q7Z6J0 | Q8NFW8 | |
| Ensembl transtripts involved in fusion gene | ENST00000284637, ENST00000508685, | ENST00000229329, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 7 X 5 X 4=140 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SH3RF1 [Title/Abstract] AND CMAS [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 | DA571172 | SH3RF1 | chr4 | 170043326 | - | CMAS | chr12 | 22199463 | + |
| * 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 |
| intron-3CDS | ENST00000284637 | ENST00000229329 | SH3RF1 | chr4 | 170043326 | - | CMAS | chr12 | 22199463 | + |
| intron-3CDS | ENST00000508685 | ENST00000229329 | SH3RF1 | chr4 | 170043326 | - | CMAS | chr12 | 22199463 | + |
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FusionProtFeatures for SH3RF1_CMAS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3RF1 | CMAS |
| Has E3 ubiquitin-protein ligase activity. In the absenceof an external substrate, it can catalyze self-ubiquitination(PubMed:15659549, PubMed:20696164). Stimulates ubiquitination ofpotassium channel KCNJ1, enhancing it's dynamin-dependent andclathrin-independent endocytosis (PubMed:19710010). Acts as ascaffold protein that coordinates with MAPK8IP1/JIP1 in organizingdifferent components of the JNK pathway, including RAC1 or RAC2,MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/orMAPK9/JNK2 into a functional multiprotein complex to ensure theeffective activation of the JNK signaling pathway. Regulates thedifferentiation of CD4(+) and CD8(+) T-cells and promotes T-helper1 (Th1) cell differentiation. Regulates the activation ofMAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation ofMAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in themigration of neocortical neurons in the developing brain. Controlsproper cortical neuronal migration and the formation of proximalcytoplasmic dilation in the leading process (PCDLP) in migratoryneocortical neurons by regulating the proper localization ofactivated RAC1 and F-actin assembly (By similarity).{ECO:0000250|UniProtKB:Q69ZI1, ECO:0000269|PubMed:15659549,ECO:0000269|PubMed:19710010, ECO:0000269|PubMed:20696164}. (Microbial infection) Plays an essential role in thetargeting of HIV-1 Gag to the plasma membrane, this function isdependent on it's RING domain, and hence it's E3 ligase activity.{ECO:0000269|PubMed:15659549}. | Catalyzes the activation of N-acetylneuraminic acid(NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid(CMP-NeuNAc), a substrate required for the addition of sialicacid. Has some activity toward NeuNAc, N-glycolylneuraminic acid(Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). |
| 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 SH3RF1_CMAS |
| 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 SH3RF1_CMAS |
| 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 SH3RF1_CMAS |
| 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 |
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RelatedDiseases for SH3RF1_CMAS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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