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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: 1895

FusionGeneSummary for ANKS1B_TGFBI

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKS1B_TGFBI
Fusion gene ID: 1895
HgeneTgene
Gene symbol

ANKS1B

TGFBI

Gene ID

56899

7045

Gene nameankyrin repeat and sterile alpha motif domain containing 1Btransforming growth factor beta induced
SynonymsAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1
Cytomap

12q23.1

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2transforming 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, 68kD
Modification date2018051920180527
UniProtAcc

Q7Z6G8

Q15582

Ensembl transtripts involved in fusion geneENST00000547776, ENST00000329257, 
ENST00000547010, ENST00000341752, 
ENST00000549558, ENST00000550693, 
ENST00000549025, ENST00000549493, 
ENST00000547446, ENST00000333732, 
ENST00000546568, ENST00000332712, 
ENST00000546960, ENST00000550833, 
ENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
Fusion gene scores* DoF score11 X 9 X 5=4956 X 7 X 2=84
# samples 118
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/84*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKS1B [Title/Abstract] AND TGFBI [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
ChiTaRS3.1BM994942ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
* 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-intronENST00000547776ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547776ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547776ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547776ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000329257ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000329257ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000329257ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000329257ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547010ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547010ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547010ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547010ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000341752ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000341752ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000341752ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000341752ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549558ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549558ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549558ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549558ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550693ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550693ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550693ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550693ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549025ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549025ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549025ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549025ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549493ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549493ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549493ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000549493ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547446ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547446ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547446ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000547446ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000333732ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000333732ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000333732ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000333732ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546568ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546568ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546568ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546568ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000332712ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000332712ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000332712ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000332712ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546960ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546960ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546960ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000546960ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550833ENST00000442011ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550833ENST00000305126ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550833ENST00000508076ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-
intron-intronENST00000550833ENST00000504185ANKS1Bchr12

100222733

-TGFBIchr5

135385634

-

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FusionProtFeatures for ANKS1B_TGFBI


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKS1B

Q7Z6G8

TGFBI

Q15582


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 ANKS1B_TGFBI


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 ANKS1B_TGFBI


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 ANKS1B_TGFBI


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 ANKS1B_TGFBI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKS1BC0019202Hepatolenticular Degeneration1CTD_human
TgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
TgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
TgeneTGFBIC0000786Spontaneous abortion1CTD_human
TgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
TgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT