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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: 17019

FusionGeneSummary for IDH1_NCL

check button Fusion gene summary
Fusion gene informationFusion gene name: IDH1_NCL
Fusion gene ID: 17019
HgeneTgene
Gene symbol

IDH1

NCL

Gene ID

3417

80331

Gene nameisocitrate dehydrogenase (NADP(+)) 1, cytosolicDnaJ heat shock protein family (Hsp40) member C5
SynonymsHEL-216|HEL-S-26|IDCD|IDH|IDP|IDPC|PICDCLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5
Cytomap

2q34

20q13.33

Type of geneprotein-codingprotein-coding
Descriptionisocitrate dehydrogenase [NADP] cytoplasmicNADP(+)-specific ICDHNADP-dependent isocitrate dehydrogenase, cytosolicNADP-dependent isocitrate dehydrogenase, peroxisomalepididymis luminal protein 216epididymis secretory protein Li 26isocitrate dehydrogdnaJ homolog subfamily C member 5DnaJ (Hsp40) homolog, subfamily C, member 5ceroid-lipofuscinosis neuronal protein 4cysteine string protein alpha
Modification date2018052720180522
UniProtAcc

O75874

P19338

Ensembl transtripts involved in fusion geneENST00000345146, ENST00000446179, 
ENST00000415913, 
ENST00000322723, 
Fusion gene scores* DoF score3 X 3 X 1=916 X 18 X 1=288
# samples 320
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/288*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IDH1 [Title/Abstract] AND NCL [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
HgeneIDH1

GO:0006102

isocitrate metabolic process

10521434|19935646|20171178

HgeneIDH1

GO:0006103

2-oxoglutarate metabolic process

19935646


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
ChiTaRS3.1CN423757IDH1chr2

209103827

-NCLchr2

232326631

-
* 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-3CDSENST00000345146ENST00000322723IDH1chr2

209103827

-NCLchr2

232326631

-
intron-3CDSENST00000446179ENST00000322723IDH1chr2

209103827

-NCLchr2

232326631

-
intron-3CDSENST00000415913ENST00000322723IDH1chr2

209103827

-NCLchr2

232326631

-

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FusionProtFeatures for IDH1_NCL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IDH1

O75874

NCL

P19338

Nucleolin is the major nucleolar protein of growingeukaryotic cells. It is found associated with intranucleolarchromatin and pre-ribosomal particles. It induces chromatindecondensation by binding to histone H1. It is thought to play arole in pre-rRNA transcription and ribosome assembly. May play arole in the process of transcriptional elongation. Binds RNAoligonucleotides with 5'-UUAGGG-3' repeats more tightly than thetelomeric single-stranded DNA 5'-TTAGGG-3' repeats.{ECO:0000269|PubMed:10393184}.

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 IDH1_NCL


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 IDH1_NCL


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 IDH1_NCL


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 IDH1_NCL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIDH1C0017638Glioma4CTD_human
HgeneIDH1C0014084Enchondromatosis2CTD_human;HPO;ORPHANET
HgeneIDH1C0936248Chondroma2CTD_human
HgeneIDH1C0018916Hemangioma1CTD_human
HgeneIDH1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneIDH1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneIDH1C0027643Neoplasm Recurrence, Local1CTD_human
HgeneIDH1C0028945oligodendroglioma1CTD_human
HgeneIDH1C0206698Cholangiocarcinoma1CTD_human
HgeneIDH1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneIDH1C2239176Liver carcinoma1CTD_human
TgeneNCLC0151744Myocardial Ischemia1CTD_human