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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: 41489

FusionGeneSummary for VMP1_DHCR7

check button Fusion gene summary
Fusion gene informationFusion gene name: VMP1_DHCR7
Fusion gene ID: 41489
HgeneTgene
Gene symbol

VMP1

DHCR7

Gene ID

81671

1717

Gene namevacuole membrane protein 17-dehydrocholesterol reductase
SynonymsEPG3|TANGO5|TMEM49SLOS
Cytomap

17q23.1

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionvacuole membrane protein 1ectopic P-granules autophagy protein 3 homologtransmembrane protein 49transport and golgi organization 5 homolog7-dehydrocholesterol reductase7-DHC reductasedelta-7-dehydrocholesterol reductaseputative sterol reductase SR-2sterol delta-7-reductase
Modification date2018052320180523
UniProtAcc

Q96GC9

Q9UBM7

Ensembl transtripts involved in fusion geneENST00000262291, ENST00000537567, 
ENST00000539763, ENST00000536180, 
ENST00000545362, ENST00000588617, 
ENST00000407721, ENST00000355527, 
Fusion gene scores* DoF score19 X 10 X 9=17108 X 7 X 5=280
# samples 187
** MAII scorelog2(18/1710*10)=-3.24792751344359
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/280*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VMP1 [Title/Abstract] AND DHCR7 [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
TCGALDBRCATCGA-E9-A22D-01AVMP1chr17

57918685

+DHCR7chr11

71152487

-
* 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-3CDSENST00000262291ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000262291ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000537567ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000537567ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000539763ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000539763ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000536180ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000536180ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000545362ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000545362ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000588617ENST00000407721VMP1chr17

57918685

+DHCR7chr11

71152487

-
intron-3CDSENST00000588617ENST00000355527VMP1chr17

57918685

+DHCR7chr11

71152487

-

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FusionProtFeatures for VMP1_DHCR7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VMP1

Q96GC9

DHCR7

Q9UBM7

Stress-induced protein that, when overexpressed,promotes formation of intracellular vacuoles followed by celldeath. May be involved in the cytoplasmic vacuolization of acinarcells during the early stage of acute pancreatitis. Plays a rolein the initial stages of the autophagic process through itsinteraction with BECN1 (By similarity). Involved in cell-celladhesion. Plays an essential role in formation of cell junctions.{ECO:0000250, ECO:0000269|PubMed:17724469}. Production of cholesterol by reduction of C7-C8 doublebond of 7-dehydrocholesterol (7-DHC).

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 VMP1_DHCR7


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 VMP1_DHCR7


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
VMP1HGS, ELAVL1, TJP1, KLK11, LPAR6, ERGIC3, FAF2, KRAS, TCTN2, TCTN3, TMEM216, DPEP1, CDH13, MAS1, LMNADHCR7NDN, FADS1, ACP6, TOR1A, UBC, MMS19, STAU1, CUL7, TCTN2, TCTN3, LTN1, ESRRB, PTPN1, PTPN5, CYLD


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 VMP1_DHCR7


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 VMP1_DHCR7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDHCR7C0175694Smith-Lemli-Opitz Syndrome16CTD_human;ORPHANET;UNIPROT
TgeneDHCR7C0004352Autistic Disorder1CTD_human;HPO
TgeneDHCR7C0005944Metabolic Bone Disorder1CTD_human
TgeneDHCR7C0023890Liver Cirrhosis1CTD_human