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Fusion gene ID: 6945 |
FusionGeneSummary for CHCHD3_ITPKA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHCHD3_ITPKA | Fusion gene ID: 6945 | Hgene | Tgene | Gene symbol | CHCHD3 | ITPKA | Gene ID | 54927 | 3706 |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 3 | inositol-trisphosphate 3-kinase A | |
| Synonyms | MINOS3|Mic19|PPP1R22 | IP3-3KA|IP3KA | |
| Cytomap | 7q32.3-q33 | 15q15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial inner membrane organizing system 3protein phosphatase 1, regulatory subunit 22 | inositol-trisphosphate 3-kinase AIP3 3-kinase AIP3K Ainositol 1,4,5-trisphosphate 3-kinase AinsP 3-kinase A | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q9NX63 | P23677 | |
| Ensembl transtripts involved in fusion gene | ENST00000262570, ENST00000448878, ENST00000476546, ENST00000542753, | ENST00000260386, | |
| Fusion gene scores | * DoF score | 8 X 8 X 6=384 | 2 X 2 X 2=8 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/384*10)=-2.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CHCHD3 [Title/Abstract] AND ITPKA [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 |
| Hgene | CHCHD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22567091 |
| 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 | COAD | TCGA-AM-5820-01A | CHCHD3 | chr7 | 132659929 | - | ITPKA | chr15 | 41794600 | + |
| * 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 | ENST00000262570 | ENST00000260386 | CHCHD3 | chr7 | 132659929 | - | ITPKA | chr15 | 41794600 | + |
| intron-3CDS | ENST00000448878 | ENST00000260386 | CHCHD3 | chr7 | 132659929 | - | ITPKA | chr15 | 41794600 | + |
| intron-3CDS | ENST00000476546 | ENST00000260386 | CHCHD3 | chr7 | 132659929 | - | ITPKA | chr15 | 41794600 | + |
| In-frame | ENST00000542753 | ENST00000260386 | CHCHD3 | chr7 | 132659929 | - | ITPKA | chr15 | 41794600 | + |
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FusionProtFeatures for CHCHD3_ITPKA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHCHD3 | ITPKA |
| Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane. Has alsobeen shown to function as a transcription factor which binds tothe BAG1 promoter and represses BAG1 transcription. Plays animportant role in the maintenance of the MICOS complex stabilityand the mitochondrial cristae morphology (PubMed:25781180).{ECO:0000269|PubMed:22567091, ECO:0000269|PubMed:25781180}. |
| 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 | >CHCHD3 | chr7:132659929 | chr15:41794600 | ENST00000262570 | - | 4 | 8 | 180_222 | 123 | 228 | Domain | CHCH |
| Hgene | >CHCHD3 | chr7:132659929 | chr15:41794600 | ENST00000262570 | - | 4 | 8 | 183_193 | 123 | 228 | Motif | Cx9C motif 1 |
| Hgene | >CHCHD3 | chr7:132659929 | chr15:41794600 | ENST00000262570 | - | 4 | 8 | 204_214 | 123 | 228 | Motif | Cx9C motif 2 |
| Tgene | ITPKA | chr7:132659929 | chr15:41794600 | ENST00000260386 | + | 3 | 7 | 249_251 | 336 | 462 | Nucleotide binding | ATP |
| Tgene | ITPKA | chr7:132659929 | chr15:41794600 | ENST00000260386 | + | 3 | 7 | 287_295 | 336 | 462 | Region | Calmodulin-binding |
| Tgene | ITPKA | chr7:132659929 | chr15:41794600 | ENST00000260386 | + | 3 | 7 | 312_319 | 336 | 462 | Region | Substrate binding |
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FusionGeneSequence for CHCHD3_ITPKA |
| 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_CHCHD3_ENST00000262570_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_249aa MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKE LDRERAAANEQLTRAILRERICSEEERAKAKHLKADGSCSTDFKTTRSREQVLRVFEEFVQGDEEVLRRYLNRLQQIRDTLEVSEFFRRH >In-frame_CHCHD3_ENST00000542753_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_249aa MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKE LDRERAAANEQLTRAILRERICSEEERAKAKHLKADGSCSTDFKTTRSREQVLRVFEEFVQGDEEVLRRYLNRLQQIRDTLEVSEFFRRH |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CHCHD3_ENST00000262570_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_747nt ATGGGTGGGACCACCAGCACCCGCCGGGTCACCTTCGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCATCCGGCTTTCGGAA AATGTGATTGATCGAATGAAGGAATCCTCTCCATCTGGTTCGAAGTCTCAGCGGTATTCTGGTGCTTATGGTGCCTCAGTTTCTGATGAA GAATTGAAAAGAAGAGTAGCTGAGGAGCTGGCATTGGAGCAAGCCAAGAAAGAATCCGAAGATCAGAAACGACTAAAGCAAGCCAAAGAG CTGGACCGAGAGAGGGCTGCTGCCAATGAGCAGTTAACCAGAGCCATCCTTCGGGAGAGGATATGTAGCGAGGAGGAACGCGCTAAGGCA AAGCACCTGAAAGCGGACGGCTCCTGCAGCACCGACTTCAAGACTACGCGAAGCCGAGAGCAGGTGCTTCGCGTCTTTGAAGAGTTTGTG CAAGGAGATGAGGAAGTGCTGAGGCGGTATCTGAACCGCCTGCAGCAGATCCGGGACACCCTGGAGGTATCCGAGTTCTTCAGGAGGCAC GAGGTGATCGGCAGCTCGCTCCTCTTTGTGCACGATCACTGCCATCGCGCCGGCGTGTGGCTCATCGACTTCGGCAAGACCACGCCCCTC CCCGATGGCCAGATCCTGGACCACCGGCGGCCCTGGGAGGAGGGCAACCGCGAGGACGGCTATTTGCTGGGGCTGGACAATCTCATTGGC >In-frame_CHCHD3_ENST00000542753_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_747nt ATGGGTGGGACCACCAGCACCCGCCGGGTCACCTTCGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCATCCGGCTTTCGGAA AATGTGATTGATCGAATGAAGGAATCCTCTCCATCTGGTTCGAAGTCTCAGCGGTATTCTGGTGCTTATGGTGCCTCAGTTTCTGATGAA GAATTGAAAAGAAGAGTAGCTGAGGAGCTGGCATTGGAGCAAGCCAAGAAAGAATCCGAAGATCAGAAACGACTAAAGCAAGCCAAAGAG CTGGACCGAGAGAGGGCTGCTGCCAATGAGCAGTTAACCAGAGCCATCCTTCGGGAGAGGATATGTAGCGAGGAGGAACGCGCTAAGGCA AAGCACCTGAAAGCGGACGGCTCCTGCAGCACCGACTTCAAGACTACGCGAAGCCGAGAGCAGGTGCTTCGCGTCTTTGAAGAGTTTGTG CAAGGAGATGAGGAAGTGCTGAGGCGGTATCTGAACCGCCTGCAGCAGATCCGGGACACCCTGGAGGTATCCGAGTTCTTCAGGAGGCAC GAGGTGATCGGCAGCTCGCTCCTCTTTGTGCACGATCACTGCCATCGCGCCGGCGTGTGGCTCATCGACTTCGGCAAGACCACGCCCCTC CCCGATGGCCAGATCCTGGACCACCGGCGGCCCTGGGAGGAGGGCAACCGCGAGGACGGCTATTTGCTGGGGCTGGACAATCTCATTGGC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CHCHD3_ENST00000262570_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_1275nt CGCCTTCTCCTTGCTTCTGGGGGTCGTGGCCTTGCTCCCGCTGTGCGGGAAAAGAATCCAGGCCCTTCCACGCGCGTGTGGGTGCGGGGG CCCCGAAGTGCTCGTGGTTCCCCGCTAGGTCTCCGCTGGGGCAGGAACCGGAATCATGGGTGGGACCACCAGCACCCGCCGGGTCACCTT CGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCATCCGGCTTTCGGAAAATGTGATTGATCGAATGAAGGAATCCTCTCCATC TGGTTCGAAGTCTCAGCGGTATTCTGGTGCTTATGGTGCCTCAGTTTCTGATGAAGAATTGAAAAGAAGAGTAGCTGAGGAGCTGGCATT GGAGCAAGCCAAGAAAGAATCCGAAGATCAGAAACGACTAAAGCAAGCCAAAGAGCTGGACCGAGAGAGGGCTGCTGCCAATGAGCAGTT AACCAGAGCCATCCTTCGGGAGAGGATATGTAGCGAGGAGGAACGCGCTAAGGCAAAGCACCTGAAAGCGGACGGCTCCTGCAGCACCGA CTTCAAGACTACGCGAAGCCGAGAGCAGGTGCTTCGCGTCTTTGAAGAGTTTGTGCAAGGAGATGAGGAAGTGCTGAGGCGGTATCTGAA CCGCCTGCAGCAGATCCGGGACACCCTGGAGGTATCCGAGTTCTTCAGGAGGCACGAGGTGATCGGCAGCTCGCTCCTCTTTGTGCACGA TCACTGCCATCGCGCCGGCGTGTGGCTCATCGACTTCGGCAAGACCACGCCCCTCCCCGATGGCCAGATCCTGGACCACCGGCGGCCCTG GGAGGAGGGCAACCGCGAGGACGGCTATTTGCTGGGGCTGGACAATCTCATTGGCATCCTGGCCAGCCTGGCTGAGAGATGAGGCTGGAC TCCTGTCCCCGCGGGCCGCTCACCTGACATGTGGACCTGCAGCTTTGTCCCCACTGTGCATGCCGGCTTGAGACTGGAGCCCCGCGGTGC AGGGCAGTTCACCGGGTCCTGCAGGACCAGGTGCCAGCCACTAAGGGGGGGCACCGCCGATGCCAGGGGTTTTGCCCACCCGGGCCCCAG CGTTCCCAGAGCCAAATGACACTAACTTATAGAAGGGGAGGGGGCAAAGGGCTTCTTCCTCAGGCCAGCTCTTCTGAGGAGGCTCTGCCC TCTCCAGAGGTGCCAGACCGCGGATTTTATTTAGCAAGCCCAGACCTTCCGGTCTAACGTCTCACACCACGACGGACTCCCCTTCCTAAT >In-frame_CHCHD3_ENST00000542753_chr7_132659929_-_ITPKA_ENST00000260386_chr15_41794600_+_1233nt GTGCGGGAAAAGAATCCAGGCCCTTCCACGCGCGTGTGGGTGCGGGGGCCCCGAAGTGCTCGTGGTTCCCCGCTAGGTCTCCGCTGGGGC AGGAACCGGAATCATGGGTGGGACCACCAGCACCCGCCGGGTCACCTTCGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCAT CCGGCTTTCGGAAAATGTGATTGATCGAATGAAGGAATCCTCTCCATCTGGTTCGAAGTCTCAGCGGTATTCTGGTGCTTATGGTGCCTC AGTTTCTGATGAAGAATTGAAAAGAAGAGTAGCTGAGGAGCTGGCATTGGAGCAAGCCAAGAAAGAATCCGAAGATCAGAAACGACTAAA GCAAGCCAAAGAGCTGGACCGAGAGAGGGCTGCTGCCAATGAGCAGTTAACCAGAGCCATCCTTCGGGAGAGGATATGTAGCGAGGAGGA ACGCGCTAAGGCAAAGCACCTGAAAGCGGACGGCTCCTGCAGCACCGACTTCAAGACTACGCGAAGCCGAGAGCAGGTGCTTCGCGTCTT TGAAGAGTTTGTGCAAGGAGATGAGGAAGTGCTGAGGCGGTATCTGAACCGCCTGCAGCAGATCCGGGACACCCTGGAGGTATCCGAGTT CTTCAGGAGGCACGAGGTGATCGGCAGCTCGCTCCTCTTTGTGCACGATCACTGCCATCGCGCCGGCGTGTGGCTCATCGACTTCGGCAA GACCACGCCCCTCCCCGATGGCCAGATCCTGGACCACCGGCGGCCCTGGGAGGAGGGCAACCGCGAGGACGGCTATTTGCTGGGGCTGGA CAATCTCATTGGCATCCTGGCCAGCCTGGCTGAGAGATGAGGCTGGACTCCTGTCCCCGCGGGCCGCTCACCTGACATGTGGACCTGCAG CTTTGTCCCCACTGTGCATGCCGGCTTGAGACTGGAGCCCCGCGGTGCAGGGCAGTTCACCGGGTCCTGCAGGACCAGGTGCCAGCCACT AAGGGGGGGCACCGCCGATGCCAGGGGTTTTGCCCACCCGGGCCCCAGCGTTCCCAGAGCCAAATGACACTAACTTATAGAAGGGGAGGG GGCAAAGGGCTTCTTCCTCAGGCCAGCTCTTCTGAGGAGGCTCTGCCCTCTCCAGAGGTGCCAGACCGCGGATTTTATTTAGCAAGCCCA |
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FusionGenePPI for CHCHD3_ITPKA |
| 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 |
| CHCHD3 | KRTAP4-12, CCDC85B, UBC, MINOS1, NUDT3, TCF3, SNRPD3, ECT2, MDC1, FMNL1, MYC, PAN2, NPM1, HDAC8, PARK2, GPRASP2, GOLGA2, TRIM27, TRAF1, BLZF1, PDE4DIP, CALCOCO2, SPAG5, SAMM50, FANCL, RPGRIP1, GMCL1P1, CCDC33, USHBP1, LZTS2, RAB3IP, SSX2IP, KRT40, SPERT, NOTCH2NL, CUL7, OBSL1, CCDC8, EZH2, SUZ12, RNF2, EGFR, NTRK1, NDUFA8, AMOTL2, MYO1C, RAB2A, RAB5C, RAB7A, VAPA, TOMM40, MTX2, TRIM29, TOR1AIP1, GOLT1B, DNAJC11, MYO19, MMGT1, C19orf70, APOOL, OCIAD1, NDUFA4, ADCK1, C15orf48, DUSP22, RAB8A, NCL, COQ2, DLST, PDHA1, SDHA, VDAC1, TRIM25, G3BP1 | ITPKA | ITSN2, DBN1 |
| - 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 CHCHD3_ITPKA |
| 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 CHCHD3_ITPKA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHCHD3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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