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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: 40016

FusionGeneSummary for TTI1_EFCAB8

check button Fusion gene summary
Fusion gene informationFusion gene name: TTI1_EFCAB8
Fusion gene ID: 40016
HgeneTgene
Gene symbol

TTI1

EFCAB8

Gene ID

9675

388795

Gene nameTELO2 interacting protein 1EF-hand calcium binding domain 8
SynonymsKIAA0406|smg-10-
Cytomap

20q11.23

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionTELO2-interacting protein 1 homologTEL2-interacting protein 1 homologTel two interacting protein 1smg-10 homolog, nonsense mediated mRNA decay factorEF-hand calcium-binding domain-containing protein 8EF-hand domain-containing protein ENSP00000383366
Modification date2018051920180403
UniProtAcc

O43156

A8MWE9

Ensembl transtripts involved in fusion geneENST00000373448, ENST00000373447, 
ENST00000449821, ENST00000487362, 
ENST00000400522, ENST00000524882, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 2 X 3=24
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TTI1 [Title/Abstract] AND EFCAB8 [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
TCGALDCOADTCGA-A6-5667-01ATTI1chr20

36661806

-EFCAB8chr20

31546227

+
* 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
5UTR-intronENST00000373448ENST00000400522TTI1chr20

36661806

-EFCAB8chr20

31546227

+
5UTR-intronENST00000373448ENST00000524882TTI1chr20

36661806

-EFCAB8chr20

31546227

+
5UTR-intronENST00000373447ENST00000400522TTI1chr20

36661806

-EFCAB8chr20

31546227

+
5UTR-intronENST00000373447ENST00000524882TTI1chr20

36661806

-EFCAB8chr20

31546227

+
intron-intronENST00000449821ENST00000400522TTI1chr20

36661806

-EFCAB8chr20

31546227

+
intron-intronENST00000449821ENST00000524882TTI1chr20

36661806

-EFCAB8chr20

31546227

+
intron-intronENST00000487362ENST00000400522TTI1chr20

36661806

-EFCAB8chr20

31546227

+
intron-intronENST00000487362ENST00000524882TTI1chr20

36661806

-EFCAB8chr20

31546227

+

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FusionProtFeatures for TTI1_EFCAB8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTI1

O43156

EFCAB8

A8MWE9

Regulator of the DNA damage response (DDR). Part of theTTT complex that is required to stabilize protein levels of thephosphatidylinositol 3-kinase-related protein kinase (PIKK) familyproteins. The TTT complex is involved in the cellular resistanceto DNA damage stresses, like ionizing radiation (IR), ultraviolet(UV) and mitomycin C (MMC). Together with the TTT complex andHSP90 may participate in the proper folding of newly synthesizedPIKKs. Promotes assembly, stabilizes and maintains the activity ofmTORC1 and mTORC2 complexes, which regulate cell growth andsurvival in response to nutrient and hormonal signals.{ECO:0000269|PubMed:20427287, ECO:0000269|PubMed:20801936,ECO:0000269|PubMed:20810650}.

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 TTI1_EFCAB8


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 TTI1_EFCAB8


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
TTI1RUVBL2, RUVBL1, MTOR, TELO2, ATM, ATR, PRKDC, SMG1, TRRAP, TTI2, HSPA4, PIH1D1, POLR2E, RPAP3, URI1, TUBA1A, RBM8A, EGFR, FBXO6, PSME4, COPB2, COPG1, COPZ1, NUP50, RUFY1, TSC22D1, TMEM51, CD274, VSIG2, CD68, LPAR6, ARL13B, SCN2B, HTR6, API5, NTRK1, NCSTN, POU5F1, PTPRF, VSIG1, SIGLECL1, CD70, CHRM3, STOM, ZNHIT2EFCAB8


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 TTI1_EFCAB8


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 TTI1_EFCAB8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource