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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: 37896

FusionGeneSummary for TGFBI_HLA-C

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBI_HLA-C
Fusion gene ID: 37896
HgeneTgene
Gene symbol

TGFBI

HLA-C

Gene ID

7045

3107

Gene nametransforming growth factor beta inducedmajor histocompatibility complex, class I, C
SynonymsBIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1
Cytomap

5q31.1

6p21.33

Type of geneprotein-codingprotein-coding
Descriptiontransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kDHLA class I histocompatibility antigen, Cw-1 alpha chainHLA class I histocompatibility antigen, C alpha chainHLA-C alpha chainHLA-C antigenMHC class I antigen heavy chain HLA-Chuman leukocyte antigen-C alpha chainmajor histocompatibility antigen HLA
Modification date2018052720180527
UniProtAcc

Q15582

Q9TNN7

Ensembl transtripts involved in fusion geneENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
ENST00000383329, ENST00000376228, 
ENST00000423509, ENST00000430940, 
ENST00000422726, ENST00000424832, 
ENST00000458192, ENST00000422921, 
ENST00000456487, ENST00000420206, 
ENST00000495725, ENST00000419135, 
ENST00000433153, ENST00000429840, 
ENST00000457903, ENST00000479546, 
ENST00000400395, ENST00000383323, 
ENST00000434884, ENST00000400394, 
ENST00000494871, ENST00000453809, 
ENST00000414249, ENST00000419590, 
ENST00000438171, ENST00000552865, 
ENST00000495898, ENST00000383483, 
ENST00000383487, ENST00000458668, 
ENST00000400341, 
Fusion gene scores* DoF score9 X 8 X 4=2881 X 1 X 1=1
# samples 101
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: TGFBI [Title/Abstract] AND HLA-C [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
ChiTaRS3.1AA166724TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
* 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-intronENST00000442011ENST00000383329TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000376228TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000423509TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000430940TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000422726TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000424832TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000458192TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000422921TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000456487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000420206TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000495725TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000419135TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000433153TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000429840TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000457903TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000479546TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000400395TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000383323TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000434884TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000400394TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000494871TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000453809TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000414249TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000419590TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000438171TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000552865TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000495898TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000383483TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000383487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000458668TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000442011ENST00000400341TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000383329TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000376228TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000423509TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000430940TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000422726TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000424832TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000458192TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000422921TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000456487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000420206TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000495725TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000419135TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000433153TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000429840TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000457903TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000479546TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000400395TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000383323TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000434884TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000400394TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000494871TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000453809TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000414249TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000419590TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000438171TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000552865TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000495898TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000383483TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000383487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000458668TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000305126ENST00000400341TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000383329TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000376228TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000423509TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000430940TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000422726TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000424832TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000458192TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000422921TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000456487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000420206TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000495725TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000419135TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000433153TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000429840TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000457903TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000479546TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000400395TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000383323TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000434884TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000400394TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000494871TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000453809TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000414249TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000419590TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000438171TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000552865TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000495898TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000383483TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000383487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000458668TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000508076ENST00000400341TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000383329TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000376228TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000423509TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000430940TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000422726TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000424832TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000458192TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000422921TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000456487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000420206TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000495725TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000419135TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000433153TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000429840TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000457903TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000479546TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000400395TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000383323TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000434884TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000400394TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000494871TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000453809TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000414249TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000419590TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000438171TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000552865TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000495898TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000383483TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000383487TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000458668TGFBIchr5

135398878

-HLA-Cchr6

2617692

-
intron-intronENST00000504185ENST00000400341TGFBIchr5

135398878

-HLA-Cchr6

2617692

-

Top

FusionProtFeatures for TGFBI_HLA-C


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

Q15582

HLA-C

Q9TNN7

Involved in the presentation of foreign antigens to theimmune system.

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


Top

FusionGeneSequence for TGFBI_HLA-C


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).

Top

FusionGenePPI for TGFBI_HLA-C


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


Top

RelatedDrugs for TGFBI_HLA-C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for TGFBI_HLA-C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
HgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0000786Spontaneous abortion1CTD_human
HgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
HgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT
TgeneHLA-CC0033860Psoriasis2CTD_human
TgeneHLA-CC0036341Schizophrenia2PSYGENET
TgeneHLA-CC0003872Arthritis, Psoriatic1CTD_human
TgeneHLA-CC0017638Glioma1CTD_human
TgeneHLA-CC0038325Stevens-Johnson Syndrome1CTD_human
TgeneHLA-CC0041755Adverse reaction to drug1CTD_human
TgeneHLA-CC0524909Hepatitis B, Chronic1CTD_human