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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: 15813

FusionGeneSummary for HADH_NCL

check button Fusion gene summary
Fusion gene informationFusion gene name: HADH_NCL
Fusion gene ID: 15813
HgeneTgene
Gene symbol

HADH

NCL

Gene ID

3033

80331

Gene namehydroxyacyl-CoA dehydrogenaseDnaJ heat shock protein family (Hsp40) member C5
SynonymsHAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHADCLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5
Cytomap

4q25

20q13.33

Type of geneprotein-codingprotein-coding
Descriptionhydroxyacyl-coenzyme A dehydrogenase, mitochondrialL-3-hydroxyacyl-Coenzyme A dehydrogenase, short chainmedium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenaseshort-chain 3-hydroxyacyl-CoA dehydrogenasetestis secretory sperm-binding protein LidnaJ homolog subfamily C member 5DnaJ (Hsp40) homolog, subfamily C, member 5ceroid-lipofuscinosis neuronal protein 4cysteine string protein alpha
Modification date2018051920180522
UniProtAcc

Q16836

P19338

Ensembl transtripts involved in fusion geneENST00000603302, ENST00000403312, 
ENST00000309522, ENST00000505878, 
ENST00000454409, ENST00000510728, 
ENST00000322723, 
Fusion gene scores* DoF score6 X 5 X 3=9016 X 18 X 1=288
# samples 720
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: HADH [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

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
ChiTaRS3.1BQ314823HADHchr4

108955491

+NCLchr2

232322411

-
ChiTaRS3.1BF348759HADHchr4

108955491

+NCLchr2

232322411

-
* 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
Frame-shiftENST00000603302ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-
In-frameENST00000403312ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-
In-frameENST00000309522ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-
Frame-shiftENST00000505878ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-
Frame-shiftENST00000454409ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-
3UTR-3CDSENST00000510728ENST00000322723HADHchr4

108955491

+NCLchr2

232322411

-

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FusionProtFeatures for HADH_NCL


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

Q16836

NCL

P19338

Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activitytoward 3-hydroxybutyryl-CoA. 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 HADH_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.
>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa

>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000403312_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt

>In-frame_HADH_ENST00000309522_chr4_108955491_+_NCL_ENST00000322723_chr2_232322411_-_0nt


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FusionGenePPI for HADH_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 HADH_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 HADH_NCL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHADHC0028754Obesity1CTD_human
HgeneHADHC0032927Precancerous Conditions1CTD_human
HgeneHADHC1864948Hyperinsulinemic Hypoglycemia, Familial, 41CTD_human;ORPHANET;UNIPROT
TgeneNCLC0151744Myocardial Ischemia1CTD_human