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Fusion gene ID: 40066 |
FusionGeneSummary for TTYH2_APOO |
Fusion gene summary |
Fusion gene information | Fusion gene name: TTYH2_APOO | Fusion gene ID: 40066 | Hgene | Tgene | Gene symbol | TTYH2 | APOO | Gene ID | 94015 | 79135 |
Gene name | tweety family member 2 | apolipoprotein O | |
Synonyms | C17orf29 | FAM121B|MIC26|Mic23|My025 | |
Cytomap | 17q25.1 | Xp22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | protein tweety homolog 2hTTY2tweety homolog 2 | MICOS complex subunit MIC26MICOS complex subunit MIC23brain my025family with sequence similarity 121B | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9BSA4 | Q9BUR5 | |
Ensembl transtripts involved in fusion gene | ENST00000269346, ENST00000529107, ENST00000534346, ENST00000441391, | ENST00000379226, ENST00000476598, ENST00000379220, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 5 X 5 X 5=125 |
# samples | 2 | 8 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(8/125*10)=-0.643856189774725 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TTYH2 [Title/Abstract] AND APOO [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 | LD | OV | TCGA-20-1687-01A | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
* 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 | ENST00000269346 | ENST00000379226 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
5CDS-5UTR | ENST00000269346 | ENST00000476598 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
5CDS-5UTR | ENST00000269346 | ENST00000379220 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
In-frame | ENST00000529107 | ENST00000379226 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
5CDS-5UTR | ENST00000529107 | ENST00000476598 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
5CDS-5UTR | ENST00000529107 | ENST00000379220 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-3CDS | ENST00000534346 | ENST00000379226 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-5UTR | ENST00000534346 | ENST00000476598 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-5UTR | ENST00000534346 | ENST00000379220 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-3CDS | ENST00000441391 | ENST00000379226 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-5UTR | ENST00000441391 | ENST00000476598 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
intron-5UTR | ENST00000441391 | ENST00000379220 | TTYH2 | chr17 | 72227138 | + | APOO | chrX | 23858494 | - |
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FusionProtFeatures for TTYH2_APOO |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TTYH2 | APOO |
Probable large-conductance Ca(2+)-activated chloridechannel. May play a role in Ca(2+) signal transduction. May beinvolved in cell proliferation and cell aggregation.{ECO:0000269|PubMed:15010458}. | 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. Plays acrucial role in crista junction formation and mitochondrialfunction (PubMed:25764979). Can promote cardiac lipotoxicity byenhancing mitochondrial respiration and fatty acid metabolism incardiac myoblasts (PubMed:24743151). Promotes cholesterol effluxfrom macrophage cells. Detected in HDL, LDL and VLDL. Secreted bya microsomal triglyceride transfer protein (MTTP)-dependentmechanism, probably as a VLDL-associated protein that issubsequently transferred to HDL (PubMed:16956892).{ECO:0000269|PubMed:16956892, ECO:0000269|PubMed:24743151,ECO:0000269|PubMed:25764979}. |
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 |
Hgene | TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 1_44 | 138 | 535 | Topological domain | Extracellular |
Hgene | TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 66_87 | 138 | 535 | Topological domain | Cytoplasmic |
Hgene | TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 45_65 | 138 | 535 | Transmembrane | Helical%3B Name%3D1 |
Hgene | TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 88_108 | 138 | 535 | Transmembrane | Helical%3B Name%3D2 |
- 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 | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 423_431 | 138 | 535 | Compositional bias | Note=Poly-Asp |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 423_431 | -404 | 214 | Compositional bias | Note=Poly-Asp |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 109_213 | 138 | 535 | Topological domain | Extracellular |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 235_240 | 138 | 535 | Topological domain | Cytoplasmic |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 262_388 | 138 | 535 | Topological domain | Extracellular |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 410_534 | 138 | 535 | Topological domain | Cytoplasmic |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 109_213 | -404 | 214 | Topological domain | Extracellular |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 1_44 | -404 | 214 | Topological domain | Extracellular |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 235_240 | -404 | 214 | Topological domain | Cytoplasmic |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 262_388 | -404 | 214 | Topological domain | Extracellular |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 410_534 | -404 | 214 | Topological domain | Cytoplasmic |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 66_87 | -404 | 214 | Topological domain | Cytoplasmic |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 214_234 | 138 | 535 | Transmembrane | Helical%3B Name%3D3 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 241_261 | 138 | 535 | Transmembrane | Helical%3B Name%3D4 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000269346 | + | 3 | 14 | 389_409 | 138 | 535 | Transmembrane | Helical%3B Name%3D5 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 214_234 | -404 | 214 | Transmembrane | Helical%3B Name%3D3 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 241_261 | -404 | 214 | Transmembrane | Helical%3B Name%3D4 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 389_409 | -404 | 214 | Transmembrane | Helical%3B Name%3D5 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 45_65 | -404 | 214 | Transmembrane | Helical%3B Name%3D1 |
Hgene | >TTYH2 | chr17:72227138 | chrX:23858494 | ENST00000441391 | + | 1 | 8 | 88_108 | -404 | 214 | Transmembrane | Helical%3B Name%3D2 |
Tgene | APOO | chr17:72227138 | chrX:23858494 | ENST00000379226 | - | 6 | 9 | 108_128 | 187 | 191 | Transmembrane | Helical |
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FusionGeneSequence for TTYH2_APOO |
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_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_150aa MQAARVDYIAPWWVVWLHSVPHVGLRLQPVNSTFSPGDESYQESLLFLGLVAAVCLGLNLIFLVAYLVCACHCRRDDAVQTKQHHSCCIT >In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_129aa MSVVGQDRKSGSGCYLRWLLFLSLLFLGLVAAVCLGLNLIFLVAYLVCACHCRRDDAVQTKQHHSCCITWTAVVAGLICCAAVGVGFYGN |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_450nt ATGCAGGCGGCGCGCGTGGACTACATCGCTCCCTGGTGGGTCGTGTGGCTGCACAGCGTCCCGCACGTCGGCCTGCGCCTGCAGCCCGTG AACAGCACCTTCAGCCCCGGCGACGAGAGTTACCAGGAGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTC ATCTTCCTTGTGGCTTACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACC TGGACGGCCGTGGTGGCCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAG CTGATGTACTCCTTGGACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAG >In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_387nt ATGAGCGTGGTGGGCCAGGACCGGAAGTCTGGCTCTGGGTGTTATTTAAGGTGGCTCCTGTTTTTGTCGCTGCTGTTCCTGGGGCTGGTG GCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTTACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACC AAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGGCCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAAC AGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGGACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAAT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_TTYH2_ENST00000269346_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_813nt GGGCGGGCACGGGGCCCCGGCCGGGAGGTGAGCGCAGCTGTCGTTCAGCTTGTGGGTAGCACTCGGGCCGAGCCATGCAGGCGGCGCGCG TGGACTACATCGCTCCCTGGTGGGTCGTGTGGCTGCACAGCGTCCCGCACGTCGGCCTGCGCCTGCAGCCCGTGAACAGCACCTTCAGCC CCGGCGACGAGAGTTACCAGGAGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTT ACCTGGTCTGTGCATGCCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGG CCGGGCTCATCTGCTGTGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGG ACGATGCCAACCACACCTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTG CCATCTTAATCAGTTATAGGTAAACATTGGAAACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAAT GTATTAAATTGGCTTTCTTCTTCAGGAAAAACTAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAAT CCCTTCACCTAGAGATAATGTACAAGCCTTAGAACTCCTCATTCTCATGTTGCTATTTATGTACCTAATTAAAACCCAAGTTAAAAAAAA >In-frame_TTYH2_ENST00000529107_chr17_72227138_+_APOO_ENST00000379226_chrX_23858494_-_707nt CCTCACCACCACTCAGATCGCTGAGTAGGAGATGAGCGTGGTGGGCCAGGACCGGAAGTCTGGCTCTGGGTGTTATTTAAGGTGGCTCCT GTTTTTGTCGCTGCTGTTCCTGGGGCTGGTGGCCGCCGTCTGCCTGGGCCTGAACCTCATCTTCCTTGTGGCTTACCTGGTCTGTGCATG CCACTGCCGGCGGGACGATGCGGTGCAGACCAAGCAGCACCACTCCTGCTGCATCACCTGGACGGCCGTGGTGGCCGGGCTCATCTGCTG TGCTGCGGTGGGCGTTGGTTTCTATGGAAACAGCGAGACCAACGATGGGGCGTACCAGCTGATGTACTCCTTGGACGATGCCAACCACAC CTTCTCTGGGATCGATGCTCTGCCAGGAAATGTGAAGAATTCACCTGGAACTAAGTAGAAAACTCCATGCTCTGCCATCTTAATCAGTTA TAGGTAAACATTGGAAACTCCATAGAATAAATCAGTATTTCTACAGAAAAATGGCATAGAAGTCAGTATTGAATGTATTAAATTGGCTTT CTTCTTCAGGAAAAACTAGACCAGACCTCTGTTATCTTCTGTGAAATCATCCTACAAGCAAACTAACCTGGAATCCCTTCACCTAGAGAT |
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FusionGenePPI for TTYH2_APOO |
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 |
TTYH2 | NEDD4, IKBKG, GRB2, MANSC1 | APOO | CDK2, TIMMDC1, C19orf70, APOOL |
- 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 TTYH2_APOO |
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 TTYH2_APOO |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |