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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: 16467

FusionGeneSummary for HMGCR_TP53INP2

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGCR_TP53INP2
Fusion gene ID: 16467
HgeneTgene
Gene symbol

HMGCR

TP53INP2

Gene ID

3156

58476

Gene name3-hydroxy-3-methylglutaryl-CoA reductasetumor protein p53 inducible nuclear protein 2
SynonymsLDLCQ3C20orf110|DOR|PIG-U|PIGU|PINH|dJ1181N3.1
Cytomap

5q13.3

20q11.22

Type of geneprotein-codingprotein-coding
Description3-hydroxy-3-methylglutaryl-Coenzyme A reductase3-hydroxy-3-methylglutaryl CoA reductase (NADPH)HMG-CoA reductasehydroxymethylglutaryl-CoA reductasetumor protein p53-inducible nuclear protein 2diabetes and obesity-regulatedp53-inducible protein U
Modification date2018052320180523
UniProtAcc

P04035

Q8IXH6

Ensembl transtripts involved in fusion geneENST00000511206, ENST00000287936, 
ENST00000343975, 
ENST00000374810, 
ENST00000374809, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 1=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: HMGCR [Title/Abstract] AND TP53INP2 [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
HgeneHMGCR

GO:0006695

cholesterol biosynthetic process

23063590

HgeneHMGCR

GO:0051262

protein tetramerization

10698924

TgeneTP53INP2

GO:0000045

autophagosome assembly

19056683

TgeneTP53INP2

GO:0045893

positive regulation of transcription, DNA-templated

22470510


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
ChiTaRS3.1BF853983HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
* 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-3UTRENST00000511206ENST00000374810HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
intron-3UTRENST00000511206ENST00000374809HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
3UTR-3UTRENST00000287936ENST00000374810HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
3UTR-3UTRENST00000287936ENST00000374809HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
3UTR-3UTRENST00000343975ENST00000374810HMGCRchr5

74657009

-TP53INP2chr20

33300042

+
3UTR-3UTRENST00000343975ENST00000374809HMGCRchr5

74657009

-TP53INP2chr20

33300042

+

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FusionProtFeatures for HMGCR_TP53INP2


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

P04035

TP53INP2

Q8IXH6

Transmembrane glycoprotein that is the rate-limitingenzyme in cholesterol biosynthesis as well as in the biosynthesisof nonsterol isoprenoids that are essential for normal cellfunction including ubiquinone and geranylgeranyl proteins. Dual regulator of transcription and autophagy.Positively regulates autophagy and is required for autophagosomeformation and processing. May act as a scaffold protein thatrecruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to theautophagosome membrane by interacting with VMP1 where, incooperation with the BECN1-PI3-kinase class III complex, theytrigger autophagosome development. Acts as a transcriptionalactivator of THRA. {ECO:0000269|PubMed:18030323,ECO:0000269|PubMed:19056683, ECO:0000269|PubMed:22470510}.

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 HMGCR_TP53INP2


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 HMGCR_TP53INP2


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 HMGCR_TP53INP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHMGCRP04035DB00175Pravastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB00641Simvastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB01076Atorvastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB01095Fluvastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB01098Rosuvastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB08860Pitavastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved
HgeneHMGCRP04035DB00227Lovastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved|investigational
HgeneHMGCRP04035DB00439Cerivastatin3-hydroxy-3-methylglutaryl-coenzyme A reductasesmall moleculeapproved|withdrawn

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RelatedDiseases for HMGCR_TP53INP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMGCRC2239176Liver carcinoma2CTD_human
HgeneHMGCRC0004364Autoimmune Diseases1CTD_human
HgeneHMGCRC0020443Hypercholesterolemia1CTD_human
HgeneHMGCRC0022661Kidney Failure, Chronic1CTD_human
HgeneHMGCRC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneHMGCRC0026848Myopathy1CTD_human
HgeneHMGCRC0034362Q Fever1CTD_human
HgeneHMGCRC0242216Biliary calculi1CTD_human