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Fusion gene ID: 17928 |
FusionGeneSummary for ITPK1_ADH5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITPK1_ADH5 | Fusion gene ID: 17928 | Hgene | Tgene | Gene symbol | ITPK1 | ADH5 | Gene ID | 3705 | 128 |
| Gene name | inositol-tetrakisphosphate 1-kinase | alcohol dehydrogenase 5 (class III), chi polypeptide | |
| Synonyms | ITRPK1 | ADH-3|ADHX|FALDH|FDH|GSH-FDH|GSNOR|HEL-S-60p | |
| Cytomap | 14q32.12 | 4q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inositol-tetrakisphosphate 1-kinaseinositol 1,3,4-trisphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinase | alcohol dehydrogenase class-3S-(hydroxymethyl)glutathione dehydrogenaseS-nitrosoglutathione reductasealcohol dehydrogenase (class III), chi polypeptidealcohol dehydrogenase class chi chainalcohol dehydrogenase class-IIIepididymis secretory sperm bin | |
| Modification date | 20180529 | 20180527 | |
| UniProtAcc | Q13572 | P11766 | |
| Ensembl transtripts involved in fusion gene | ENST00000267615, ENST00000354313, ENST00000556603, ENST00000555495, ENST00000556954, | ENST00000296412, ENST00000512991, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 2 X 2 X 1=4 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ITPK1 [Title/Abstract] AND ADH5 [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 |
| Tgene | ADH5 | GO:0051775 | response to redox state | 8460164 |
| 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 |
| ChiTaRS3.1 | BQ338215 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| * 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 | ENST00000267615 | ENST00000296412 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-5UTR | ENST00000267615 | ENST00000512991 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-3CDS | ENST00000354313 | ENST00000296412 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-5UTR | ENST00000354313 | ENST00000512991 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-3CDS | ENST00000556603 | ENST00000296412 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-5UTR | ENST00000556603 | ENST00000512991 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-3CDS | ENST00000555495 | ENST00000296412 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-5UTR | ENST00000555495 | ENST00000512991 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-3CDS | ENST00000556954 | ENST00000296412 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
| intron-5UTR | ENST00000556954 | ENST00000512991 | ITPK1 | chr14 | 93549336 | - | ADH5 | chr4 | 99997876 | - |
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FusionProtFeatures for ITPK1_ADH5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITPK1 | ADH5 |
| Kinase that can phosphorylate various inositolpolyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3.Phosphorylates Ins(3,4,5,6)P4 at position 1 to formIns(1,3,4,5,6)P5. This reaction is thought to have regulatoryimportance, since Ins(3,4,5,6)P4 is an inhibitor of plasmamembrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to formIns(1,3,4,6)P4, an essential molecule in the hexakisphosphate(InsP6) pathway. Also acts as an inositol polyphosphatephosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May alsoact as an isomerase that interconverts the inositoltetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in thepresence of ADP and magnesium. Probably acts as the rate-limitingenzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosisby interfering with the activation of TNFRSF1A-associated deathdomain. {ECO:0000269|PubMed:11909533, ECO:0000269|PubMed:12925536,ECO:0000269|PubMed:17616525}. | Class-III ADH is remarkably ineffective in oxidizingethanol, but it readily catalyzes the oxidation of long-chainprimary alcohols and the oxidation of S-(hydroxymethyl)glutathione. |
| 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 ITPK1_ADH5 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ITPK1_ADH5 |
| 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 |
| - 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 ITPK1_ADH5 |
| 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 ITPK1_ADH5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ITPK1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | ADH5 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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