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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: 16158

FusionGeneSummary for HHIP_DDX46

check button Fusion gene summary
Fusion gene informationFusion gene name: HHIP_DDX46
Fusion gene ID: 16158
HgeneTgene
Gene symbol

HHIP

DDX46

Gene ID

64399

9879

Gene namehedgehog interacting proteinDEAD-box helicase 46
SynonymsHIPPRPF5|Prp5
Cytomap

4q31.21

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionhedgehog-interacting proteinprobable ATP-dependent RNA helicase DDX46DEAD (Asp-Glu-Ala-Asp) box polypeptide 46DEAD box protein 46PRP5 homologPrp5-like DEAD-box proteinRNA helicase
Modification date2018052320180519
UniProtAcc

Q96QV1

Q7L014

Ensembl transtripts involved in fusion geneENST00000296575, ENST00000434550, 
ENST00000511314, 
ENST00000452510, 
ENST00000354283, ENST00000509178, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 6 X 3=90
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HHIP [Title/Abstract] AND DDX46 [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
HgeneHHIP

GO:0009968

negative regulation of signal transduction

19561609


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
ChiTaRS3.1DA881233HHIPchr4

145567438

+DDX46chr5

134094468

+
* 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-3CDSENST00000296575ENST00000452510HHIPchr4

145567438

+DDX46chr5

134094468

+
5UTR-intronENST00000296575ENST00000354283HHIPchr4

145567438

+DDX46chr5

134094468

+
5UTR-intronENST00000296575ENST00000509178HHIPchr4

145567438

+DDX46chr5

134094468

+
5UTR-3CDSENST00000434550ENST00000452510HHIPchr4

145567438

+DDX46chr5

134094468

+
5UTR-intronENST00000434550ENST00000354283HHIPchr4

145567438

+DDX46chr5

134094468

+
5UTR-intronENST00000434550ENST00000509178HHIPchr4

145567438

+DDX46chr5

134094468

+
intron-3CDSENST00000511314ENST00000452510HHIPchr4

145567438

+DDX46chr5

134094468

+
intron-intronENST00000511314ENST00000354283HHIPchr4

145567438

+DDX46chr5

134094468

+
intron-intronENST00000511314ENST00000509178HHIPchr4

145567438

+DDX46chr5

134094468

+

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FusionProtFeatures for HHIP_DDX46


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

Q96QV1

DDX46

Q7L014

Modulates hedgehog signaling in several cell typesincluding brain and lung through direct interaction with membersof the hedgehog family. {ECO:0000269|PubMed:11472839,ECO:0000269|PubMed:19561609}. Plays an essential role in splicing, either prior to, orduring splicing A complex formation.{ECO:0000269|PubMed:12234937}.

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 HHIP_DDX46


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 HHIP_DDX46


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 HHIP_DDX46


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 HHIP_DDX46


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHHIPC2239176Liver carcinoma1CTD_human