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Fusion gene ID: 18271 |
FusionGeneSummary for KCNJ10_CISD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNJ10_CISD2 | Fusion gene ID: 18271 | Hgene | Tgene | Gene symbol | KCNJ10 | CISD2 | Gene ID | 3766 | 493856 |
| Gene name | potassium voltage-gated channel subfamily J member 10 | CDGSH iron sulfur domain 2 | |
| Synonyms | BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME | ERIS|Miner1|NAF-1|WFS2|ZCD2 | |
| Cytomap | 1q23.2 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-sensitive inward rectifier potassium channel 10ATP-dependent inwardly rectifying potassium channel Kir4.1glial ATP-dependent inwardly rectifying potassium channel KIR4.1inward rectifier K(+) channel Kir1.2inward rectifier K+ channel KIR1.2potassi | CDGSH iron-sulfur domain-containing protein 2endoplasmic reticulum intermembrane small proteinmitoNEET-related 1 proteinnutrient-deprivation autophagy factor-1zinc finger, CDGSH-type domain 2 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P78508 | Q8N5K1 | |
| Ensembl transtripts involved in fusion gene | ENST00000368089, ENST00000509700, | ENST00000273986, ENST00000503643, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 2 X 3=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KCNJ10 [Title/Abstract] AND CISD2 [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 | LGG | TCGA-E1-5304-01A | KCNJ10 | chr1 | 160039812 | - | CISD2 | chr4 | 103806373 | + |
| * 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 |
| 5UTR-3CDS | ENST00000368089 | ENST00000273986 | KCNJ10 | chr1 | 160039812 | - | CISD2 | chr4 | 103806373 | + |
| 5UTR-3CDS | ENST00000368089 | ENST00000503643 | KCNJ10 | chr1 | 160039812 | - | CISD2 | chr4 | 103806373 | + |
| intron-3CDS | ENST00000509700 | ENST00000273986 | KCNJ10 | chr1 | 160039812 | - | CISD2 | chr4 | 103806373 | + |
| intron-3CDS | ENST00000509700 | ENST00000503643 | KCNJ10 | chr1 | 160039812 | - | CISD2 | chr4 | 103806373 | + |
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FusionProtFeatures for KCNJ10_CISD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNJ10 | CISD2 |
| May be responsible for potassium buffering action ofglial cells in the brain. Inward rectifier potassium channels arecharacterized by a greater tendency to allow potassium to flowinto the cell rather than out of it. Their voltage dependence isregulated by the concentration of extracellular potassium; asexternal potassium is raised, the voltage range of the channelopening shifts to more positive voltages. The inward rectificationis mainly due to the blockage of outward current by internalmagnesium. Can be blocked by extracellular barium and cesium (Bysimilarity). In the kidney, together with KCNJ16, mediatesbasolateral K(+) recycling in distal tubules; this process iscritical for Na(+) reabsorption at the tubules. {ECO:0000250,ECO:0000305|PubMed:24561201}. | Regulator of autophagy that contributes to antagonizeBECN1-mediated cellular autophagy at the endoplasmic reticulum.Participates in the interaction of BCL2 with BECN1 and is requiredfor BCL2-mediated depression of endoplasmic reticulum Ca(2+)stores during autophagy. Contributes to BIK-initiated autophagy,while it is not involved in BIK-dependent activation of caspases.Involved in life span control, probably via its function asregulator of autophagy. {ECO:0000269|PubMed:17846994,ECO:0000269|PubMed:20010695}. |
| 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 KCNJ10_CISD2 |
| 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 KCNJ10_CISD2 |
| 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 |
| KCNJ10 | APP, SNTA1, MLC1, SIAH1, HSPA8, COPB2, SEC24B, COPG1, SEC23B, TTC1, YTHDF1, TMED8, DYNLL1, SEC24A, BAG1, ADO, HSPA4 | CISD2 | ELAVL1, BCL2, SPP1, APP, LMNA, NRG1, HMOX2, HLA-C, SLC39A4, LTBR, CHRNA9, COX4I1, VDAC1, VDAC2, VDAC3, TCTN2, TCTN3, TMEM216, COQ9, NDUFA4, TMPRSS3, KIR3DL2, LRRTM1, STS, ASIC4, PVR, IL1R2, PCDHAC1, TMEM206, KIAA1161, CHRND, STIM2, PCDHB7, IL17RB, PCDHA4, TMEM63A |
| - 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 KCNJ10_CISD2 |
| 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 KCNJ10_CISD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNJ10 | C2748572 | SeSAME syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | KCNJ10 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| Hgene | KCNJ10 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | CISD2 | C1858028 | WOLFRAM SYNDROME 2 | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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