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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: 39770

FusionGeneSummary for TSFM_TJAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: TSFM_TJAP1
Fusion gene ID: 39770
HgeneTgene
Gene symbol

TSFM

TJAP1

Gene ID

10102

93643

Gene nameTs translation elongation factor, mitochondrialtight junction associated protein 1
SynonymsEFTS|EFTSMTPILT|TJP4
Cytomap

12q14.1

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionelongation factor Ts, mitochondrialEF-TsEF-TsMtmitochondrial elongation factor Tstight junction-associated protein 1protein incorporated later into tight junctionstight junction associated protein 1 (peripheral)tight junction protein 4 (peripheral)
Modification date2018052320180519
UniProtAcc

P43897

Q5JTD0

Ensembl transtripts involved in fusion geneENST00000543727, ENST00000550559, 
ENST00000548851, ENST00000454289, 
ENST00000540550, ENST00000323833, 
ENST00000350762, ENST00000497617, 
ENST00000372445, ENST00000436109, 
ENST00000372444, ENST00000372449, 
ENST00000259751, ENST00000372452, 
ENST00000438588, ENST00000483640, 
Fusion gene scores* DoF score20 X 6 X 5=6002 X 2 X 2=8
# samples 192
** MAII scorelog2(19/600*10)=-1.65896308216493
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: TSFM [Title/Abstract] AND TJAP1 [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
HgeneTSFM

GO:0070129

regulation of mitochondrial translation

27677415


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
TCGALDGBMTCGA-28-5207-01ATSFMchr12

58191070

+TJAP1chr6

43473034

+
* 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-3CDSENST00000543727ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000543727ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000543727ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000550559ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000550559ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000548851ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000548851ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000454289ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3UTRENST00000454289ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3CDSENST00000540550ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
3UTR-3UTRENST00000540550ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000323833ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000323833ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000350762ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000350762ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000372445TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000436109TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000372444TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000372449TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000259751TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000372452TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3CDSENST00000497617ENST00000438588TSFMchr12

58191070

+TJAP1chr6

43473034

+
intron-3UTRENST00000497617ENST00000483640TSFMchr12

58191070

+TJAP1chr6

43473034

+

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FusionProtFeatures for TSFM_TJAP1


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

P43897

TJAP1

Q5JTD0

Associates with the EF-Tu.GDP complex and induces theexchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.{ECO:0000255|HAMAP-Rule:MF_03135, ECO:0000269|PubMed:27677415}.

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 TSFM_TJAP1


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 TSFM_TJAP1


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
TSFMMTRNR2L1, MRRF, ACOT13, CDV3, C1QBP, LIG4, SLC25A41, ACTL6A, CYP1A1, OXLD1, OFD1, FBF1, DCTN1, NDUFS3, NME4, ATXN7L2, AMY1C, MTIF2, CST2, MRPL12, CST4, ZG16B, GTF2E2, PUS1, IGHA1, ATP5D, DLD, DLST, TRIM25TJAP1DLG1, ELAVL1, SF3B3, PPME1, FHL3, CORO1A, XPO1, ACSL4, CTR9, ZWINT, CHST15, VPS18, MIS12, SYNC, APBA2, APBA3, TRIM25


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 TSFM_TJAP1


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 TSFM_TJAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSFMC1864840Combined Oxidative Phosphorylation Deficiency 32CTD_human;ORPHANET;UNIPROT