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Fusion gene ID: 6165 |
FusionGeneSummary for CD2AP_UQCRH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD2AP_UQCRH | Fusion gene ID: 6165 | Hgene | Tgene | Gene symbol | CD2AP | UQCRH | Gene ID | 23607 | 7388 |
| Gene name | CD2 associated protein | ubiquinol-cytochrome c reductase hinge protein | |
| Synonyms | CMS | QCR6|UQCR8 | |
| Cytomap | 6p12.3 | 1p33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains | cytochrome b-c1 complex subunit 6, mitochondrialcomplex III subunit 6cytochrome c1 non-heme 11 kDa proteinmitochondrial hinge proteinubiquinol-cytochrome c reductase complex 11 kDa proteinubiquinol-cytochrome c reductase, complex III subunit VIII | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9Y5K6 | P07919 | |
| Ensembl transtripts involved in fusion gene | ENST00000359314, ENST00000486693, | ENST00000311672, ENST00000486951, | |
| Fusion gene scores | * DoF score | 13 X 6 X 10=780 | 2 X 2 X 2=8 |
| # samples | 13 | 2 | |
| ** MAII score | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CD2AP [Title/Abstract] AND UQCRH [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 | STAD | TCGA-BR-8060-01A | CD2AP | chr6 | 47471176 | + | UQCRH | chr1 | 46782224 | + |
| * 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 |
| In-frame | ENST00000359314 | ENST00000311672 | CD2AP | chr6 | 47471176 | + | UQCRH | chr1 | 46782224 | + |
| 5CDS-intron | ENST00000359314 | ENST00000486951 | CD2AP | chr6 | 47471176 | + | UQCRH | chr1 | 46782224 | + |
| intron-3CDS | ENST00000486693 | ENST00000311672 | CD2AP | chr6 | 47471176 | + | UQCRH | chr1 | 46782224 | + |
| intron-intron | ENST00000486693 | ENST00000486951 | CD2AP | chr6 | 47471176 | + | UQCRH | chr1 | 46782224 | + |
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FusionProtFeatures for CD2AP_UQCRH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD2AP | UQCRH |
| Seems to act as an adapter protein between membraneproteins and the actin cytoskeleton (PubMed:10339567). Incollaboration with CBLC, modulates the rate of RET turnover andmay act as regulatory checkpoint that limits the potency of GDNFon neuronal survival. Controls CBLC function, converting it froman inhibitor to a promoter of RET degradation (By similarity). Mayplay a role in receptor clustering and cytoskeletal polarity inthe junction between T-cell and antigen-presenting cell (Bysimilarity). May anchor the podocyte slit diaphragm to the actincytoskeleton in renal glomerolus. Also required for cytokinesis(PubMed:15800069). Plays a role in epithelial cell junctionsformation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8,ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567,ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. | This is a component of the ubiquinol-cytochrome creductase complex (complex III or cytochrome b-c1 complex), whichis part of the mitochondrial respiratory chain. This protein maymediate formation of the complex between cytochromes c and c1. |
| 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 |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 577_638 | 55 | 640 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 336_422 | 55 | 640 | Compositional bias | Note=Pro-rich |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 108_167 | 55 | 640 | Domain | SH3 2 |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 1_59 | 55 | 640 | Domain | SH3 1%3B truncated |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 269_330 | 55 | 640 | Domain | SH3 3 |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 336_352 | 55 | 640 | Motif | SH3-binding |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 378_397 | 55 | 640 | Motif | SH3-binding |
| Hgene | >CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 410_422 | 55 | 640 | Motif | SH3-binding |
| Tgene | UQCRH | chr6:47471176 | chr1:46782224 | ENST00000311672 | + | 2 | 4 | 17_25 | 81 | 92 | Compositional bias | Note=Poly-Glu |
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FusionGeneSequence for CD2AP_UQCRH |
| 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_CD2AP_ENST00000359314_chr6_47471176_+_UQCRH_ENST00000311672_chr1_46782224_+_66aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CD2AP_ENST00000359314_chr6_47471176_+_UQCRH_ENST00000311672_chr1_46782224_+_198nt ATGGTTGACTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATTAACTATTCGAGTTGGAGAAATCATCAGGAATGTGAAA AAGCTACAGGAGGAAGGGTGGCTGGAAGGAGAACTAAATGGGAGAAGAGGAATGTTCCCTGACAATTTCGTTAAGGTGGCCCACAAACTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CD2AP_ENST00000359314_chr6_47471176_+_UQCRH_ENST00000311672_chr1_46782224_+_846nt CTCTGTCTGGGTCCCCACCTTAGTCTACGGTGTCGCCTTTTCTAACTGCGAGTGCTAAGGAAGAGGCGAGGGGCGGGCTCCGAGGCTAGG CGGGCGCTCGGGGTTGGAGCCGAGGGTCTGGGCAAACCGGTGGGTCCCTCCCCACTGCGGGAGCGGCCAGGGTGGGAAAACCGCGGTCGG GCGGGCGGGGTAGGGCCCTCCCGCCGCCGTGGCTCCTGGGGAGGCCAGGGGTGAGGAGCTGTCGCCGCCTTTGCCTCTGCCTCGAGGGCC GCGCTGAAGAGACTGGTAGGAGAGCGCCGCGGGCGGATGGAGGCGACTCTTCGCCCCGCCTGAGCTCAGGAGGGGCTAGCGCGGAGCGCG GGTCCCGCCTCCAGCCGCGGGAGCGGCCGCGCGAGCCACCACTGGAGGAGGAGGAGGAGGAGCGGACGTCGGCTTCTCCCCGCGGGAGCC CCCAGCATGGTTGACTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATTAACTATTCGAGTTGGAGAAATCATCAGGAAT GTGAAAAAGCTACAGGAGGAAGGGTGGCTGGAAGGAGAACTAAATGGGAGAAGAGGAATGTTCCCTGACAATTTCGTTAAGGTGGCCCAC AAACTCTTTAACAACTTGAAATAAATGTGTGGACTTAATTCACCCCAGTCTTCATCATCTGGGCATCAGAATATTTCCTTATGGTTTTGG ATGTACCATTTGTTTCTTATTTGTGTAACTGTAAGTTCACATGAACCTCATGGGTTTGGCTTAGGCTGGTAGCTTCTATGTAATTCGCAA |
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FusionGenePPI for CD2AP_UQCRH |
| 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 |
| CD2AP | RAB4A, CBL, CD2, CAPZA1, CD2AP, NPHS2, BCAR1, MVB12A, SH3KBP1, NPHS1, NR4A1, NR2C2, HBP1, HOXC11, KHDRBS1, BLNK, TRA, PDCD6IP, ACTC1, CBLB, CTTN, EGFR, SH3GL2, DNM2, TSG101, INPP5D, CAPZB, CBLC, ARHGAP17, CAPZA2, MORF4L1P2, SH3BP1, GRB2, NRAS, VCAM1, ITGA4, LMNA, PTGES3, UBC, GZMB, LOX, ARHGEF10, BRCC3, CCDC6, ELP2, SPAG9, HNRNPR, HUWE1, MTA2, NR3C1, IKBKAP, KIAA0196, KIAA1033, LARP7, NOLC1, NRBP1, RABEP2, TSC22D1, USP34, WDHD1, FRS3, UBE2I, SLC25A41, STAP1, TAS2R7, ASNS, CSTF2, DPH5, GALE, IMPDH2, MSN, NPLOC4, PFDN2, PPA2, PRDX6, SCPEP1, SEC24C, SEC24D, TTC27, UFD1L, ZYX, NIT1, MED4, RPGRIP1L, KIF23, ATP6AP2, RACGAP1, KIF15, NF2, CDH1, TCP10L, ARHGAP44, MRPL12, DACH2, SETX, UBE2A | UQCRH | SIRT3, ILF3, NENF, MPV17, EEF1A1, RPL4, EEF1B2, NPM1, FAM189B, RNF24, ARL8A, PEX19, UQCRB, NDUFS4, ATP6V0D1, SLC15A2, NDUFA12, OTUB1, COX7A2L, DOCK11, ACTR10, DCTN5, CYTB, CYC1, SLC39A4, DCTN6, UQCRQ, FAM131B, HDAC10, TUBB, ACTR1B, PROC, FUCA2, ERBB3, DCTN3, SERPINB1, UQCRC1, UQCRC2, DCTN2, DCTN4 |
| - 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 |
| Hgene | CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 1_175 | 55 | 640 | ANLN and localization to the midbody |
| - 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 CD2AP_UQCRH |
| 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 CD2AP_UQCRH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD2AP | C0002395 | Alzheimer's Disease | 2 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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