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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: 17022

FusionGeneSummary for IDH2_KIF1C

check button Fusion gene summary
Fusion gene informationFusion gene name: IDH2_KIF1C
Fusion gene ID: 17022
HgeneTgene
Gene symbol

IDH2

KIF1C

Gene ID

3418

10749

Gene nameisocitrate dehydrogenase (NADP(+)) 2, mitochondrialkinesin family member 1C
SynonymsD2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDHLTXS1|SATX2|SAX2|SPAX2|SPG58
Cytomap

15q26.1

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionisocitrate dehydrogenase [NADP], mitochondrialNADP(+)-specific ICDHisocitrate dehydrogenase 2 (NADP+), mitochondrialoxalosuccinate decarboxylasekinesin-like protein KIF1Cspastic ataxia 2 (autosomal recessive)
Modification date2018052220180523
UniProtAcc

P48735

O43896

Ensembl transtripts involved in fusion geneENST00000330062, ENST00000539790, 
ENST00000559482, ENST00000540499, 
ENST00000320785, ENST00000573815, 
Fusion gene scores* DoF score3 X 4 X 2=244 X 3 X 4=48
# samples 44
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IDH2 [Title/Abstract] AND KIF1C [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
ChiTaRS3.1Z28531IDH2chr15

90627408

-KIF1Cchr17

4927083

+
* 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
intron-3CDSENST00000330062ENST00000320785IDH2chr15

90627408

-KIF1Cchr17

4927083

+
intron-intronENST00000330062ENST00000573815IDH2chr15

90627408

-KIF1Cchr17

4927083

+
intron-3CDSENST00000539790ENST00000320785IDH2chr15

90627408

-KIF1Cchr17

4927083

+
intron-intronENST00000539790ENST00000573815IDH2chr15

90627408

-KIF1Cchr17

4927083

+
intron-3CDSENST00000559482ENST00000320785IDH2chr15

90627408

-KIF1Cchr17

4927083

+
intron-intronENST00000559482ENST00000573815IDH2chr15

90627408

-KIF1Cchr17

4927083

+
Frame-shitENST00000540499ENST00000320785IDH2chr15

90627408

-KIF1Cchr17

4927083

+
5CDS-intronENST00000540499ENST00000573815IDH2chr15

90627408

-KIF1Cchr17

4927083

+

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FusionProtFeatures for IDH2_KIF1C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IDH2

P48735

KIF1C

O43896

Plays a role in intermediary metabolism and energyproduction. It may tightly associate or interact with the pyruvatedehydrogenase complex. Motor required for the retrograde transport of Golgivesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility. {ECO:0000269|PubMed:9685376}.

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 IDH2_KIF1C


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 IDH2_KIF1C


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


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 IDH2_KIF1C


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 IDH2_KIF1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIDH2C0014084Enchondromatosis2CTD_human;HPO;ORPHANET
HgeneIDH2C0079774Peripheral T-Cell Lymphoma2CTD_human
HgeneIDH2C0936248Chondroma2CTD_human
HgeneIDH2C2750850GLIOMA SUSCEPTIBILITY 12UNIPROT
HgeneIDH2C0018916Hemangioma1CTD_human
HgeneIDH2C0020981Angioimmunoblastic Lymphadenopathy1CTD_human
HgeneIDH2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneIDH2C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneIDH2C0027643Neoplasm Recurrence, Local1CTD_human
HgeneIDH2C0028945oligodendroglioma1CTD_human;ORPHANET
HgeneIDH2C0029408Degenerative polyarthritis1CTD_human
HgeneIDH2C0029456Osteoporosis1CTD_human
HgeneIDH2C0206698Cholangiocarcinoma1CTD_human
HgeneIDH2C3150909D-2-HYDROXYGLUTARIC ACIDURIA 21UNIPROT
TgeneKIF1CC1969796ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)1ORPHANET;UNIPROT