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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: 11608

FusionGeneSummary for ENG_SFT2D1

check button Fusion gene summary
Fusion gene informationFusion gene name: ENG_SFT2D1
Fusion gene ID: 11608
HgeneTgene
Gene symbol

ENG

SFT2D1

Gene ID

2022

113402

Gene nameendoglinSFT2 domain containing 1
SynonymsEND|HHT1|ORW1C6orf83|pRGR1
Cytomap

9q34.11

6q27

Type of geneprotein-codingprotein-coding
DescriptionendoglinCD105 antigenvesicle transport protein SFT2ASFT2 domain-containing protein 1
Modification date2018052720180523
UniProtAcc

P17813

Q8WV19

Ensembl transtripts involved in fusion geneENST00000373203, ENST00000344849, 
ENST00000480266, 
ENST00000361731, 
ENST00000487841, 
Fusion gene scores* DoF score6 X 6 X 4=1442 X 2 X 1=4
# samples 72
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ENG [Title/Abstract] AND SFT2D1 [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
HgeneENG

GO:0001934

positive regulation of protein phosphorylation

12015308

HgeneENG

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

12015308

HgeneENG

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

15702480

HgeneENG

GO:0030336

negative regulation of cell migration

19736306

HgeneENG

GO:0030513

positive regulation of BMP signaling pathway

17068149

HgeneENG

GO:0031953

negative regulation of protein autophosphorylation

12015308


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
ChiTaRS3.1DA620280ENGchr9

130616838

-SFT2D1chr6

166747222

-
* 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-intronENST00000373203ENST00000361731ENGchr9

130616838

-SFT2D1chr6

166747222

-
intron-intronENST00000373203ENST00000487841ENGchr9

130616838

-SFT2D1chr6

166747222

-
intron-intronENST00000344849ENST00000361731ENGchr9

130616838

-SFT2D1chr6

166747222

-
intron-intronENST00000344849ENST00000487841ENGchr9

130616838

-SFT2D1chr6

166747222

-
intron-intronENST00000480266ENST00000361731ENGchr9

130616838

-SFT2D1chr6

166747222

-
intron-intronENST00000480266ENST00000487841ENGchr9

130616838

-SFT2D1chr6

166747222

-

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FusionProtFeatures for ENG_SFT2D1


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

P17813

SFT2D1

Q8WV19

Vascular endothelium glycoprotein that plays animportant role in the regulation of angiogenesis (PubMed:21737454,PubMed:23300529). Required for normal structure and integrity ofadult vasculature (PubMed:7894484). Regulates the migration ofvascular endothelial cells (PubMed:17540773). Required for normalextraembryonic angiogenesis and for embryonic heart development(By similarity). May regulate endothelial cell shape changes inresponse to blood flow, which drive vascular remodeling andestablishment of normal vascular morphology during angiogenesis(By similarity). May play a critical role in the binding ofendothelial cells to integrins and/or other RGD receptors(PubMed:1692830). Acts as TGF-beta coreceptor and is involved inthe TGF-beta/BMP signaling cascade that ultimately leads to theactivation of SMAD transcription factors (PubMed:8370410,PubMed:21737454, PubMed:22347366, PubMed:23300529). Required forGDF2/BMP9 signaling through SMAD1 in endothelial cells andmodulates TGFB1 signaling through SMAD3 (PubMed:21737454,PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961,ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454,ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484,ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}. May be involved in fusion of retrograde transportvesicles derived from an endocytic compartment with the Golgicomplex. {ECO:0000250|UniProtKB:P38166}.

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 ENG_SFT2D1


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 ENG_SFT2D1


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


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 ENG_SFT2D1


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 ENG_SFT2D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENGC0039445Hereditary hemorrhagic telangiectasia12CTD_human;ORPHANET;UNIPROT