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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18271

FusionGeneSummary for KCNJ10_CISD2

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNJ10_CISD2
Fusion gene ID: 18271
HgeneTgene
Gene symbol

KCNJ10

CISD2

Gene ID

3766

493856

Gene namepotassium voltage-gated channel subfamily J member 10CDGSH iron sulfur domain 2
SynonymsBIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAMEERIS|Miner1|NAF-1|WFS2|ZCD2
Cytomap

1q23.2

4q24

Type of geneprotein-codingprotein-coding
DescriptionATP-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 KIR1.2potassiCDGSH iron-sulfur domain-containing protein 2endoplasmic reticulum intermembrane small proteinmitoNEET-related 1 proteinnutrient-deprivation autophagy factor-1zinc finger, CDGSH-type domain 2
Modification date2018052320180527
UniProtAcc

P78508

Q8N5K1

Ensembl transtripts involved in fusion geneENST00000368089, ENST00000509700, 
ENST00000273986, ENST00000503643, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 2 X 3=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLGGTCGA-E1-5304-01AKCNJ10chr1

160039812

-CISD2chr4

103806373

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000368089ENST00000273986KCNJ10chr1

160039812

-CISD2chr4

103806373

+
5UTR-3CDSENST00000368089ENST00000503643KCNJ10chr1

160039812

-CISD2chr4

103806373

+
intron-3CDSENST00000509700ENST00000273986KCNJ10chr1

160039812

-CISD2chr4

103806373

+
intron-3CDSENST00000509700ENST00000503643KCNJ10chr1

160039812

-CISD2chr4

103806373

+

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FusionProtFeatures for KCNJ10_CISD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNJ10

P78508

CISD2

Q8N5K1

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for KCNJ10_CISD2


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
KCNJ10APP, SNTA1, MLC1, SIAH1, HSPA8, COPB2, SEC24B, COPG1, SEC23B, TTC1, YTHDF1, TMED8, DYNLL1, SEC24A, BAG1, ADO, HSPA4CISD2ELAVL1, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KCNJ10_CISD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KCNJ10_CISD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNJ10C2748572SeSAME syndrome3CTD_human;ORPHANET;UNIPROT
HgeneKCNJ10C0026769Multiple Sclerosis1CTD_human
HgeneKCNJ10C0036341Schizophrenia1PSYGENET
TgeneCISD2C1858028WOLFRAM SYNDROME 21CTD_human