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Fusion gene ID: 6165 |
FusionGeneSummary for CD2AP_UQCRH |
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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) |
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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 |
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 |
![]() * 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 |
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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. |
![]() * 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 |
![]() (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 |
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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 |
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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 |
Hgene | CD2AP | chr6:47471176 | chr1:46782224 | ENST00000359314 | + | 2 | 18 | 1_175 | 55 | 640 | ANLN and localization to the midbody |
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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 CD2AP_UQCRH |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CD2AP | C0002395 | Alzheimer's Disease | 2 | CTD_human |