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Fusion gene ID: 4925 |
FusionGeneSummary for C2CD2_SH3BGRL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C2CD2_SH3BGRL | Fusion gene ID: 4925 | Hgene | Tgene | Gene symbol | C2CD2 | SH3BGRL | Gene ID | 25966 | 6451 |
| Gene name | C2 calcium dependent domain containing 2 | SH3 domain binding glutamate rich protein like | |
| Synonyms | C21orf25|C21orf258|TMEM24L | HEL-S-115|SH3BGR | |
| Cytomap | 21q22.3 | Xq21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | C2 domain-containing protein 2TMEM24 related gemetransmembrane protein 24-like | SH3 domain-binding glutamic acid-rich-like proteinSH3 domain binding glutamic acid-rich protein likeSH3-binding domain glutamic acid-rich protein likeepididymis secretory protein Li 115 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q9Y426 | O75368 | |
| Ensembl transtripts involved in fusion gene | ENST00000329623, ENST00000380486, ENST00000478372, | ENST00000373212, ENST00000481106, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 3 X 2 X 3=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: C2CD2 [Title/Abstract] AND SH3BGRL [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 |
| TCGA | RV | UCS | TCGA-ND-A4W6-01A | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| * 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 | ENST00000329623 | ENST00000373212 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| intron-3UTR | ENST00000329623 | ENST00000481106 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| In-frame | ENST00000380486 | ENST00000373212 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| 5CDS-3UTR | ENST00000380486 | ENST00000481106 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| intron-3CDS | ENST00000478372 | ENST00000373212 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
| intron-3UTR | ENST00000478372 | ENST00000481106 | C2CD2 | chr21 | 43362256 | - | SH3BGRL | chrX | 80532483 | + |
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FusionProtFeatures for C2CD2_SH3BGRL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C2CD2 | SH3BGRL |
| 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 C2CD2_SH3BGRL |
| 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. |
| >In-frame_C2CD2_ENST00000380486_chr21_43362256_-_SH3BGRL_ENST00000373212_chrX_80532483_+_226aa MAMARLGSWLGEAQWLALVSLFVAALATVGLYLAQWALARARPQPQRRAVEPGEGPRPGSDALLSWILTLGSWRSQWQAAWVTALNEEAE RKGGPPFLSFEEDPRQQALELVVQEVSSVLRSAEEKIKKKQQDVLGFLEANKIGFEEKDIAANEENRKWMRENVPENSRPATGYPLPPQI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_C2CD2_ENST00000380486_chr21_43362256_-_SH3BGRL_ENST00000373212_chrX_80532483_+_678nt ATGGCCATGGCCCGGCTGGGCTCGTGGCTCGGGGAGGCGCAGTGGCTCGCGCTGGTGTCGCTCTTCGTCGCGGCCCTGGCCACGGTAGGC CTGTACCTGGCGCAGTGGGCGCTGGCCAGGGCGCGACCCCAGCCCCAGCGGCGGGCGGTGGAGCCTGGAGAGGGGCCGCGCCCGGGGTCC GACGCGCTGCTCTCCTGGATCCTGACGCTGGGCAGCTGGAGGAGCCAGTGGCAGGCGGCCTGGGTGACCGCCCTGAACGAGGAGGCCGAG AGGAAAGGGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTC AGGTCGGCGGAGGAGAAGATTAAGAAGAAACAACAAGATGTGCTTGGTTTCCTAGAAGCCAACAAAATAGGATTTGAAGAAAAAGATATT GCAGCCAATGAAGAGAATCGGAAGTGGATGAGAGAAAATGTACCTGAAAATAGTCGACCAGCCACAGGTTACCCCCTGCCACCTCAGATT TTCAATGAAAGCCAGTATCGCGGGGACTATGATGCCTTCTTTGAAGCCAGAGAAAATAATGCAGTGTATGCCTTCTTAGGCTTGACAGCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_C2CD2_ENST00000380486_chr21_43362256_-_SH3BGRL_ENST00000373212_chrX_80532483_+_2240nt GCTCGCGCCCCTGTTCCGCAGGTGTGCGGGGCTTGCGCCCAGCCCGGGCCGCGGCCGCCGCGCGTTTCCTCCCCGCTTGCCCGCCCAGAG GCCCCCGGCCACGCTCCTCGCCGGGCTCCGACCCCGCCGCGCCCCCTCCACGCCCCCAGCGCGCTGTGGCCGCAGCCAGCGCGTGTCCTG AGTCCGCCGTTCCGGCCCGGGGCTGCCGGGGAAGTTGGGGCGAGGCGGGCCGGGGATGCGCCATGGCCATGGCCCGGCTGGGCTCGTGGC TCGGGGAGGCGCAGTGGCTCGCGCTGGTGTCGCTCTTCGTCGCGGCCCTGGCCACGGTAGGCCTGTACCTGGCGCAGTGGGCGCTGGCCA GGGCGCGACCCCAGCCCCAGCGGCGGGCGGTGGAGCCTGGAGAGGGGCCGCGCCCGGGGTCCGACGCGCTGCTCTCCTGGATCCTGACGC TGGGCAGCTGGAGGAGCCAGTGGCAGGCGGCCTGGGTGACCGCCCTGAACGAGGAGGCCGAGAGGAAAGGGGGCCCACCTTTCCTGTCCT TTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCGGCGGAGGAGAAGATTAAGAAGA AACAACAAGATGTGCTTGGTTTCCTAGAAGCCAACAAAATAGGATTTGAAGAAAAAGATATTGCAGCCAATGAAGAGAATCGGAAGTGGA TGAGAGAAAATGTACCTGAAAATAGTCGACCAGCCACAGGTTACCCCCTGCCACCTCAGATTTTCAATGAAAGCCAGTATCGCGGGGACT ATGATGCCTTCTTTGAAGCCAGAGAAAATAATGCAGTGTATGCCTTCTTAGGCTTGACAGCCCCACCTGGTTCAAAGGAAGCAGAAGTGC AAGCAAAGCAGCAAGCATGAACCTTAAGCACTGTGCTTTAAGCATCCTGAAAAATGAGTCTCCATTGCTTTTATAAAATAGCAGAATTAG CTTTGCTTCAAAAGAAATAGGCTTAATGTTGAAATAATAGATTAGTTGGGTTTTCACATGCAAACATTCAAAATGAATACAAAATTAAAA TTTGAACATTATGGTGATTATGGTGAGGAGAATGGGATATTAACATAAAATTATATTAATAAGTAGATATCGTAGAAATAGTGTTGTTAC CTGCCAAGCCATCCTGTATACACCAATGATTTTACAAAGAAAACACCCTTCCCTCCTTCTGCCATTACTATGGCAACTTAAGTGTATCTG CAGCTCTACATTAAAAAGGAGAAAGAGAAATAACCTGTCTCTCATTCCTAAGTTGCCTCATTAATTTTCATGAACAAGAATATGTACCTT TTTGATGCTATATTACTGCGATTAAAAAGTTCTTGCAGGTAATGTTTATGATATGTTAAACGTTGTAATTTCCTATCGTAATTATAACAT TCCCATTCTTTTGTAGATGAAACTTCTACATATTGAACCACAGATTTTCTGAGCTTCTAAATGTAGCCTTTCATTGCACATTTCAGTGAT CAGAATAGATATCCTTTTACACGCACAAAAGCAATAGATTCATTCAGTGGACAAGTTCCTTGTTTAACTACACAGCTATGATGGAATGAT ATATCCAAGTTCCTTGCCTCAGTGAAATATGCATATGTATATCATGAAAGTGGGATGCCAAGTAAGCTTAAAATGGCATTCTCTAGCAAA GAGATTAGACTTTTAAATAACTCTTATAAAACAGGTTGGCGATCATTTCCCAAGATTGGTTTCCCTTGAGTTTTTGCTAAAACAAATCTT AGTAGTTTTGCCCGTTTAAAACAACTCACAATCGTAAATGCTACTATTCCTAAGATATCTTACCTTTTTATTTCAGTTTAGCCATGTATT GTATGAGTGTATTAGTCTAAGCAGTGAGAATCTTTTCTATGCCTCTATTCCAGCAAAAAGTAGAAGTATCAAATAAAAAGGGCAACTTTT AAAATATTAAGCCTGAAGACTTCTAAAAAGACAAGAAACATGGCCTAAATAACCAACATAGATTTACATAGTAAGTTTCACACTACCTTA TTACCAAAAGCAAACACCTCTTACTTTAAACTACATTATCATGTATATCTATTGTATGCTGGTCTTTACTTTTTGCCAAAATCAACATAT |
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FusionGenePPI for C2CD2_SH3BGRL |
| 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 |
| C2CD2 | ELAVL1, DYNC1LI2, ARHGAP10, SEC14L1, ARHGAP26, DYNC1LI1 | SH3BGRL | EGFR, ERBB2, SCAF4, PSMA5, IGBP1, PSMA1, NSFL1C, LXN, SNRPF, SDHAF2, STUB1, CD2BP2, STAT6, COTL1, DAZAP1, TES |
| - 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 C2CD2_SH3BGRL |
| 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 C2CD2_SH3BGRL |
| 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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