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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: 16165

FusionGeneSummary for HIBCH_MFSD6

check button Fusion gene summary
Fusion gene informationFusion gene name: HIBCH_MFSD6
Fusion gene ID: 16165
HgeneTgene
Gene symbol

HIBCH

MFSD6

Gene ID

26275

54842

Gene name3-hydroxyisobutyryl-CoA hydrolasemajor facilitator superfamily domain containing 6
SynonymsHIBYLCOAHMMR2|hMMR2
Cytomap

2q32.2

2q32.2

Type of geneprotein-codingprotein-coding
Description3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86major facilitator superfamily domain-containing protein 6macrophage MHC class I receptor 2 homologmacrophage MHC receptor 2
Modification date2018052320180329
UniProtAcc

Q6NVY1

Q6ZSS7

Ensembl transtripts involved in fusion geneENST00000392332, ENST00000359678, 
ENST00000410045, ENST00000486981, 
ENST00000392328, ENST00000281416, 
ENST00000535751, ENST00000489793, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 2 X 3=18
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HIBCH [Title/Abstract] AND MFSD6 [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
TCGARVLUSCTCGA-96-7544-01AHIBCHchr2

191109613

-MFSD6chr2

191300703

+
* 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-5UTRENST00000392332ENST00000392328HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-5UTRENST00000392332ENST00000281416HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000392332ENST00000535751HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000392332ENST00000489793HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-5UTRENST00000359678ENST00000392328HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-5UTRENST00000359678ENST00000281416HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000359678ENST00000535751HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000359678ENST00000489793HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-5UTRENST00000410045ENST00000392328HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-5UTRENST00000410045ENST00000281416HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000410045ENST00000535751HIBCHchr2

191109613

-MFSD6chr2

191300703

+
5CDS-intronENST00000410045ENST00000489793HIBCHchr2

191109613

-MFSD6chr2

191300703

+
intron-5UTRENST00000486981ENST00000392328HIBCHchr2

191109613

-MFSD6chr2

191300703

+
intron-5UTRENST00000486981ENST00000281416HIBCHchr2

191109613

-MFSD6chr2

191300703

+
intron-intronENST00000486981ENST00000535751HIBCHchr2

191109613

-MFSD6chr2

191300703

+
intron-intronENST00000486981ENST00000489793HIBCHchr2

191109613

-MFSD6chr2

191300703

+

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FusionProtFeatures for HIBCH_MFSD6


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

Q6NVY1

MFSD6

Q6ZSS7

Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a salinecatabolite. Has high activity toward isobutyryl-CoA. Could be anisobutyryl-CoA dehydrogenase that functions in valine catabolism.Also hydrolyzes 3-hydroxypropanoyl-CoA.{ECO:0000269|PubMed:8824301}.

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 HIBCH_MFSD6


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 HIBCH_MFSD6


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
HIBCHH2AFX, ACOT1, IRF2BPL, ACADVL, KIAA0391, MKRN2, OXLD1, ACOT9, ALDH6A1, CAB39, CLIC1, CLIC4, CLIC5, ACADM, ALDH7A1, C12orf10, DSTN, ECI1, FH, NEDD8, PPA2, PSME3, SOD1, HNRNPH1, HNRNPH2, LSM12, NME2, NME1-NME2, PRCP, UFM1, UMPS, TMEM184A, GATC, GTF2E2, SOX2MFSD6


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 HIBCH_MFSD6


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 HIBCH_MFSD6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHIBCHC0029408Degenerative polyarthritis1CTD_human
HgeneHIBCHC0342738Beta-Hydroxyisobutyryl CoA Deacylase Deficiency1CTD_human;ORPHANET;UNIPROT