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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: 37271

FusionGeneSummary for TASP1_DHCR7

check button Fusion gene summary
Fusion gene informationFusion gene name: TASP1_DHCR7
Fusion gene ID: 37271
HgeneTgene
Gene symbol

TASP1

DHCR7

Gene ID

55617

1717

Gene nametaspase 17-dehydrocholesterol reductase
SynonymsC20orf13|dJ585I14.2SLOS
Cytomap

20p12.1

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionthreonine aspartase 17-dehydrocholesterol reductase7-DHC reductasedelta-7-dehydrocholesterol reductaseputative sterol reductase SR-2sterol delta-7-reductase
Modification date2018052320180523
UniProtAcc

Q9H6P5

Q9UBM7

Ensembl transtripts involved in fusion geneENST00000539805, ENST00000480436, 
ENST00000337743, ENST00000544472, 
ENST00000407721, ENST00000355527, 
Fusion gene scores* DoF score11 X 11 X 9=10898 X 7 X 5=280
# samples 137
** MAII scorelog2(13/1089*10)=-3.06642042568845
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: TASP1 [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
TCGALDCESCTCGA-C5-A1MK-01ATASP1chr20

13415691

-DHCR7chr11

71152486

-
* 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
3UTR-3CDSENST00000539805ENST00000407721TASP1chr20

13415691

-DHCR7chr11

71152486

-
3UTR-3CDSENST00000539805ENST00000355527TASP1chr20

13415691

-DHCR7chr11

71152486

-
5UTR-3CDSENST00000480436ENST00000407721TASP1chr20

13415691

-DHCR7chr11

71152486

-
5UTR-3CDSENST00000480436ENST00000355527TASP1chr20

13415691

-DHCR7chr11

71152486

-
Frame-shiftENST00000337743ENST00000407721TASP1chr20

13415691

-DHCR7chr11

71152486

-
Frame-shiftENST00000337743ENST00000355527TASP1chr20

13415691

-DHCR7chr11

71152486

-
intron-3CDSENST00000544472ENST00000407721TASP1chr20

13415691

-DHCR7chr11

71152486

-
intron-3CDSENST00000544472ENST00000355527TASP1chr20

13415691

-DHCR7chr11

71152486

-

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FusionProtFeatures for TASP1_DHCR7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TASP1

Q9H6P5

DHCR7

Q9UBM7

Protease involved in KMT2A/MLL1 processing and,consequently, in the correct expression of the early HOXA genecluster. {ECO:0000269|PubMed:14636557}. 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 TASP1_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 TASP1_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
TASP1APP, KMT2ADHCR7NDN, 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 TASP1_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 TASP1_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