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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: 16191

FusionGeneSummary for HIP1R_C12orf65

check button Fusion gene summary
Fusion gene informationFusion gene name: HIP1R_C12orf65
Fusion gene ID: 16191
HgeneTgene
Gene symbol

HIP1R

C12orf65

Gene ID

9026

91574

Gene namehuntingtin interacting protein 1 relatedchromosome 12 open reading frame 65
SynonymsHIP12|HIP3|ILWEQCOXPD7|SPG55
Cytomap

12q24.31

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionhuntingtin-interacting protein 1-related proteinHIP-12HIP1-related proteinhuntingtin interacting protein 12probable peptide chain release factor C12orf65, mitochondrial
Modification date2018052320180523
UniProtAcc

O75146

Q9H3J6

Ensembl transtripts involved in fusion geneENST00000253083, ENST00000537322, 
ENST00000253233, ENST00000366329, 
ENST00000429587, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 3 X 3=36
# samples 34
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HIP1R [Title/Abstract] AND C12orf65 [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
HgeneHIP1R

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

19255499

HgeneHIP1R

GO:0032092

positive regulation of protein binding

19255499

HgeneHIP1R

GO:0050821

protein stabilization

14732715


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
TCGALDSTADTCGA-VQ-A928-01AHIP1Rchr12

123344377

+C12orf65chr12

123738194

+
* 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
5CDS-5UTRENST00000253083ENST00000253233HIP1Rchr12

123344377

+C12orf65chr12

123738194

+
5CDS-5UTRENST00000253083ENST00000366329HIP1Rchr12

123344377

+C12orf65chr12

123738194

+
5CDS-5UTRENST00000253083ENST00000429587HIP1Rchr12

123344377

+C12orf65chr12

123738194

+
intron-5UTRENST00000537322ENST00000253233HIP1Rchr12

123344377

+C12orf65chr12

123738194

+
intron-5UTRENST00000537322ENST00000366329HIP1Rchr12

123344377

+C12orf65chr12

123738194

+
intron-5UTRENST00000537322ENST00000429587HIP1Rchr12

123344377

+C12orf65chr12

123738194

+

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FusionProtFeatures for HIP1R_C12orf65


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIP1R

O75146

C12orf65

Q9H3J6

Component of clathrin-coated pits and vesicles, that maylink the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTHdomain to promote cell survival by stabilizing receptor tyrosinekinases following ligand-induced endocytosis.{ECO:0000269|PubMed:11889126, ECO:0000269|PubMed:14732715}. May act as a codon-independent translation releasefactor that has lost all stop codon specificity and directs thetermination of translation in mitochondrion. May help rescuingstalled mitoribosomes during translation (By similarity).{ECO:0000250}.

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 HIP1R_C12orf65


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 HIP1R_C12orf65


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
HIP1RHIP1, SH3KBP1, PICALM, VCP, VCAM1, FN1, ITGA4, COMTD1, CD274, TMEM171, TEX29, LYPD3, SCN2B, NTRK1, C14orf166, CEP41, CRKL, EWSR1, GART, NDRG1, PSPC1, SARS, TRAF4, TSG101, TUFM, IRF2BP1, MTMR6, TATDN1, VPS28, WARS, CAPZA2, CLTB, CLTC, GAK, MYH9, LIMA1, GTSE1, MYO19, BOP1, SNW1, CDC5L, STAMBPL1, KIAA1467, REPS1, SLC39A9, APLNR, RALBP1, PPM1A, IL13RA2, PPM1B, CD70, MFSD4, EPHA1, AP1B1, LRFN4, SLC15A1, SFPQ, TRIM25C12orf65APP, CDK2, MYLK2


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 HIP1R_C12orf65


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 HIP1R_C12orf65


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHIP1RC0005586Bipolar Disorder2PSYGENET
TgeneC12orf65C0162666Mitochondrial Encephalomyopathies1CTD_human