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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:IDH2-KIF1C (FusionGDB2 ID:38083)

Fusion Gene Summary for IDH2-KIF1C

check button Fusion gene summary
Fusion gene informationFusion gene name: IDH2-KIF1C
Fusion gene ID: 38083
HgeneTgene
Gene symbol

IDH2

KIF1C

Gene ID

3418

10749

Gene nameisocitrate dehydrogenase (NADP(+)) 2kinesin 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 (NADP(+)) 2, mitochondrialisocitrate dehydrogenase 2 (NADP+), mitochondrialoxalosuccinate decarboxylasekinesin-like protein KIF1Cspastic ataxia 2 (autosomal recessive)
Modification date2020031320200313
UniProtAcc.

O43896

Ensembl transtripts involved in fusion geneENST00000330062, ENST00000539790, 
ENST00000559482, ENST00000540499, 
ENST00000320785, ENST00000573815, 
Fusion gene scores* DoF score8 X 9 X 2=1446 X 5 X 4=120
# samples 106
** MAII scorelog2(10/144*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
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]

Most frequent breakpointIDH2(90627408)-KIF1C(4927083), # samples:1
Anticipated loss of major functional domain due to fusion event.IDH2-KIF1C seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
IDH2-KIF1C seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
IDH2-KIF1C seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
IDH2-KIF1C seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across IDH2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KIF1C (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AZ28531IDH2chr15

90627408

-KIF1Cchr17

4927083

+


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Fusion Gene ORF analysis for IDH2-KIF1C

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-shiftENST00000540499ENST00000320785IDH2chr15

90627408

-KIF1Cchr17

4927083

+
5CDS-intronENST00000540499ENST00000573815IDH2chr15

90627408

-KIF1Cchr17

4927083

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for IDH2-KIF1C


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for IDH2-KIF1C


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KIF1C

O43896

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Motor required for the retrograde transport of Golgi vesicles 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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Fusion Gene Sequence for IDH2-KIF1C


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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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Related Drugs for IDH2-KIF1C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for IDH2-KIF1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIDH2C0028945oligodendroglioma8CTD_human;ORPHANET
HgeneIDH2C0334590Anaplastic Oligodendroglioma8CTD_human;ORPHANET
HgeneIDH2C0280793Mixed Oligodendroglioma-Astrocytoma7CTD_human;ORPHANET
HgeneIDH2C0334579Anaplastic astrocytoma7ORPHANET
HgeneIDH2C0334580Protoplasmic astrocytoma6ORPHANET
HgeneIDH2C0334581Gemistocytic astrocytoma6ORPHANET
HgeneIDH2C0334582Fibrillary Astrocytoma6ORPHANET
HgeneIDH2C0431108Anaplastic Oligoastrocytoma6ORPHANET
HgeneIDH2C3150909D-2-HYDROXYGLUTARIC ACIDURIA 23GENOMICS_ENGLAND;UNIPROT
HgeneIDH2C0013366Dyschondroplasias2ORPHANET
HgeneIDH2C0014084Enchondromatosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneIDH2C0023467Leukemia, Myelocytic, Acute2CGI;CTD_human
HgeneIDH2C0024454Maffucci Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneIDH2C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneIDH2C0079774Peripheral T-Cell Lymphoma2CTD_human
HgeneIDH2C0936248Chondroma2CTD_human
HgeneIDH2C1704356Enchondroma2CTD_human
HgeneIDH2C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneIDH2C2750850GLIOMA SUSCEPTIBILITY 12UNIPROT
HgeneIDH2C0001787Osteoporosis, Age-Related1CTD_human
HgeneIDH2C0007194Hypertrophic Cardiomyopathy1CTD_human
HgeneIDH2C0007682CNS disorder1CTD_human
HgeneIDH2C0018273Growth Disorders1CTD_human
HgeneIDH2C0018800Cardiomegaly1CTD_human
HgeneIDH2C0018916Hemangioma1CTD_human
HgeneIDH2C0020295Hydronephrosis1CTD_human
HgeneIDH2C0020981Angioimmunoblastic Lymphadenopathy1CTD_human
HgeneIDH2C0022333Jacksonian Seizure1CTD_human
HgeneIDH2C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneIDH2C0027643Neoplasm Recurrence, Local1CTD_human
HgeneIDH2C0029408Degenerative polyarthritis1CTD_human
HgeneIDH2C0029456Osteoporosis1CTD_human
HgeneIDH2C0029459Osteoporosis, Senile1CTD_human
HgeneIDH2C0035078Kidney Failure1CTD_human
HgeneIDH2C0036572Seizures1CTD_human
HgeneIDH2C0086743Osteoarthrosis Deformans1CTD_human
HgeneIDH2C0149958Complex partial seizures1CTD_human
HgeneIDH2C0205788Histiocytoid hemangioma1CTD_human
HgeneIDH2C0205789Hemangioma, Intramuscular1CTD_human
HgeneIDH2C0206698Cholangiocarcinoma1CGI;CTD_human
HgeneIDH2C0234533Generalized seizures1CTD_human
HgeneIDH2C0234535Clonic Seizures1CTD_human
HgeneIDH2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneIDH2C0270824Visual seizure1CTD_human
HgeneIDH2C0270844Tonic Seizures1CTD_human
HgeneIDH2C0270846Epileptic drop attack1CTD_human
HgeneIDH2C0279070Adult Oligodendroglioma1CTD_human
HgeneIDH2C0280475Childhood Oligodendroglioma1CTD_human
HgeneIDH2C0344461Oligodendroblastoma1CTD_human
HgeneIDH2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneIDH2C0376634Craniofacial Abnormalities1CTD_human
HgeneIDH2C0422850Seizures, Somatosensory1CTD_human
HgeneIDH2C0422852Seizures, Auditory1CTD_human
HgeneIDH2C0422853Olfactory seizure1CTD_human
HgeneIDH2C0422854Gustatory seizure1CTD_human
HgeneIDH2C0422855Vertiginous seizure1CTD_human
HgeneIDH2C0494475Tonic - clonic seizures1CTD_human
HgeneIDH2C0677608Chorioangioma1CTD_human
HgeneIDH2C0751056Non-epileptic convulsion1CTD_human
HgeneIDH2C0751110Single Seizure1CTD_human
HgeneIDH2C0751123Atonic Absence Seizures1CTD_human
HgeneIDH2C0751395Mixed Oligodendroglioma-Ependymoma1CTD_human
HgeneIDH2C0751396Well Differentiated Oligodendroglioma1CTD_human
HgeneIDH2C0751406Post-Traumatic Osteoporosis1CTD_human
HgeneIDH2C0751494Convulsive Seizures1CTD_human
HgeneIDH2C0751495Seizures, Focal1CTD_human
HgeneIDH2C0751496Seizures, Sensory1CTD_human
HgeneIDH2C1383860Cardiac Hypertrophy1CTD_human
HgeneIDH2C1565489Renal Insufficiency1CTD_human
HgeneIDH2C1959588Angioma1CTD_human
HgeneIDH2C2746066Combined D-2- and L-2-hydroxyglutaric aciduria1CTD_human
HgeneIDH2C3152055D-2-HYDROXYGLUTARIC ACIDURIA 11ORPHANET
HgeneIDH2C3495874Nonepileptic Seizures1CTD_human
HgeneIDH2C3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneIDH2C4048158Convulsions1CTD_human
HgeneIDH2C4316903Absence Seizures1CTD_human
HgeneIDH2C4317109Epileptic Seizures1CTD_human
HgeneIDH2C4317123Myoclonic Seizures1CTD_human
HgeneIDH2C4505436Generalized Absence Seizures1CTD_human
HgeneIDH2C4551472Hypertrophic obstructive cardiomyopathy1CTD_human
TgeneKIF1CC1969796ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT