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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: 4119

FusionGeneSummary for BEND7_PHYH

check button Fusion gene summary
Fusion gene informationFusion gene name: BEND7_PHYH
Fusion gene ID: 4119
HgeneTgene
Gene symbol

BEND7

PHYH

Gene ID

222389

5264

Gene nameBEN domain containing 7phytanoyl-CoA 2-hydroxylase
SynonymsC10orf30LN1|LNAP1|PAHX|PHYH1|RD
Cytomap

10p13

10p13

Type of geneprotein-codingprotein-coding
DescriptionBEN domain-containing protein 7phytanoyl-CoA dioxygenase, peroxisomalphytanic acid oxidasephytanoil-CoA alpha hydroxylasephytanoyl-CoA 2 oxoglutarate dioxygenasephytanoyl-CoA alpha-hydroxylase
Modification date2018051920180523
UniProtAcc

Q8N7W2

O14832

Ensembl transtripts involved in fusion geneENST00000486542, ENST00000396900, 
ENST00000341083, ENST00000396898, 
ENST00000378605, 
ENST00000396913, 
ENST00000263038, ENST00000396920, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 31
** MAII scorelog2(3/8*10)=1.90689059560852log2(1/1*10)=3.32192809488736
Context

PubMed: BEND7 [Title/Abstract] AND PHYH [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
TgenePHYH

GO:0001561

fatty acid alpha-oxidation

9326939|16186124

TgenePHYH

GO:0006103

2-oxoglutarate metabolic process

16186124

TgenePHYH

GO:0006720

isoprenoid metabolic process

11555634

TgenePHYH

GO:0097089

methyl-branched fatty acid metabolic process

10744784


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
TCGALDOVTCGA-25-2393-01ABEND7chr10

13568138

-PHYHchr10

13323110

-
* 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-3CDSENST00000486542ENST00000396913BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000486542ENST00000263038BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000486542ENST00000396920BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396900ENST00000396913BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396900ENST00000263038BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396900ENST00000396920BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000341083ENST00000396913BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000341083ENST00000263038BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000341083ENST00000396920BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396898ENST00000396913BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396898ENST00000263038BEND7chr10

13568138

-PHYHchr10

13323110

-
Frame-shitENST00000396898ENST00000396920BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000378605ENST00000396913BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000378605ENST00000263038BEND7chr10

13568138

-PHYHchr10

13323110

-
intron-3CDSENST00000378605ENST00000396920BEND7chr10

13568138

-PHYHchr10

13323110

-

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FusionProtFeatures for BEND7_PHYH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BEND7

Q8N7W2

PHYH

O14832

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.

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 BEND7_PHYH


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 BEND7_PHYH


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
BEND7NIF3L1, PPP1R37, SDCBP2, EMD, U2AF2, PSMF1, PLEKHF2, BYSL, CHD2, DDX6, MFAP1, PIM1, SMARCA2, RAB29, PPIG, MORF4L2, USP20, MORF4L1, ZCCHC10, C11orf57, CDCA7L, LYAR, EAF2, CEP44, EIF1AD, EAF1, CIB3, BEND7, FAM133A, TRIM27, C1QBP, LRP4, ZNF219, MBD3L1, FAM124A, NAP1L3, MYO15B, DGCR8PHYHF8, PEX7, MAGEA11, COPS3, WRAP73, TOM1L1, FKBP4, ELAVL1, APP, FAM9B, TP53, C6orf226


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 BEND7_PHYH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePHYHO14832DB00025Antihemophilic factor, human recombinantPhytanoyl-CoA dioxygenase, peroxisomalbiotechapproved|investigational
TgenePHYHO14832DB00126Vitamin CPhytanoyl-CoA dioxygenase, peroxisomalsmall moleculeapproved|nutraceutical

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RelatedDiseases for BEND7_PHYH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHYHC0034960Refsum Disease4CTD_human;ORPHANET;UNIPROT