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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: 16465

FusionGeneSummary for HMGCL_S100PBP

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGCL_S100PBP
Fusion gene ID: 16465
HgeneTgene
Gene symbol

HMGCL

S100PBP

Gene ID

3155

64766

Gene name3-hydroxymethyl-3-methylglutaryl-CoA lyaseS100P binding protein
SynonymsHLS100PBPR
Cytomap

1p36.11

1p35.1

Type of geneprotein-codingprotein-coding
Descriptionhydroxymethylglutaryl-CoA lyase, mitochondrial3-hydroxy-3-methylglutarate-CoA lyase3-hydroxy-3-methylglutaryl-CoA lyase3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyaseHMG-CoA lyasehydroxymethylglutaricaciduriamitochondrial 3-hydroxy-3-methylglutaryS100P-binding proteinS100P binding protein 1
Modification date2018052320180519
UniProtAcc

P35914

Q96BU1

Ensembl transtripts involved in fusion geneENST00000374490, ENST00000436439, 
ENST00000374483, ENST00000509389, 
ENST00000373476, ENST00000373475, 
ENST00000398243, ENST00000356689, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: HMGCL [Title/Abstract] AND S100PBP [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
HgeneHMGCL

GO:0006629

lipid metabolic process

8027038

HgeneHMGCL

GO:0046951

ketone body biosynthetic process

9200711|22847177|22865860

HgeneHMGCL

GO:0051262

protein tetramerization

12464283


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
TCGARVLGGTCGA-DB-A64O-01AHMGCLchr1

24130890

-S100PBPchr1

33321525

+
* 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-shiftENST00000374490ENST00000373476HMGCLchr1

24130890

-S100PBPchr1

33321525

+
Frame-shiftENST00000374490ENST00000373475HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000374490ENST00000398243HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000374490ENST00000356689HMGCLchr1

24130890

-S100PBPchr1

33321525

+
Frame-shiftENST00000436439ENST00000373476HMGCLchr1

24130890

-S100PBPchr1

33321525

+
Frame-shiftENST00000436439ENST00000373475HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000436439ENST00000398243HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000436439ENST00000356689HMGCLchr1

24130890

-S100PBPchr1

33321525

+
Frame-shiftENST00000374483ENST00000373476HMGCLchr1

24130890

-S100PBPchr1

33321525

+
Frame-shiftENST00000374483ENST00000373475HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000374483ENST00000398243HMGCLchr1

24130890

-S100PBPchr1

33321525

+
5CDS-intronENST00000374483ENST00000356689HMGCLchr1

24130890

-S100PBPchr1

33321525

+
intron-3CDSENST00000509389ENST00000373476HMGCLchr1

24130890

-S100PBPchr1

33321525

+
intron-3CDSENST00000509389ENST00000373475HMGCLchr1

24130890

-S100PBPchr1

33321525

+
intron-intronENST00000509389ENST00000398243HMGCLchr1

24130890

-S100PBPchr1

33321525

+
intron-intronENST00000509389ENST00000356689HMGCLchr1

24130890

-S100PBPchr1

33321525

+

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FusionProtFeatures for HMGCL_S100PBP


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

P35914

S100PBP

Q96BU1

Key enzyme in ketogenesis (ketone body formation).Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as analternative source of energy to glucose, as lipid precursors andas regulators of metabolism. {ECO:0000269|PubMed:22847177,ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:8566388}.

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 HMGCL_S100PBP


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 HMGCL_S100PBP


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
HMGCLMS4A7, HES1, DNAJA1, RNF126, ADAMTS10, ARL6IP1, PEX5, GTF2B, PNPT1, FPGS, GLS, ALAS1, ACADVL, MGME1, FBXO21, MCCC2, PIR, LSM12, TOMM40, HSD17B10, HMGCLL1, WDYHV1S100PBPELAVL1, PCED1B


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 HMGCL_S100PBP


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 HMGCL_S100PBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMGCLC0268601HMG CoA lyase deficiency9CTD_human;UNIPROT