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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: 39433

FusionGeneSummary for TRBV5-1_NKX2-2

check button Fusion gene summary
Fusion gene informationFusion gene name: TRBV5-1_NKX2-2
Fusion gene ID: 39433
HgeneTgene
Gene symbol

TRBV5-1

NKX2-2

Gene ID

28614

4821

Gene nameT cell receptor beta variable 5-1NK2 homeobox 2
SynonymsTCRBV5S1|TCRBV5S1A1T|TRBV51NKX2.2|NKX2B
Cytomap

7q34

20p11.22

Type of geneotherprotein-coding
Description-homeobox protein Nkx-2.2NK2 transcription factor related, locus 2NK2 transcription factor-like protein Bhomeobox protein NK-2 homolog B
Modification date2018052320180519
UniProtAcc

O95096

Ensembl transtripts involved in fusion geneENST00000390381, ENST00000377142, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 2=8
# samples 22
** MAII scorelog2(2/4*10)=2.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: TRBV5-1 [Title/Abstract] AND NKX2-2 [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
ChiTaRS3.1BI962557TRBV5-1chr7

142460874

-NKX2-2chr20

21492607

+
* 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-3CDSENST00000390381ENST00000377142TRBV5-1chr7

142460874

-NKX2-2chr20

21492607

+

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FusionProtFeatures for TRBV5-1_NKX2-2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TRBV5-1

NKX2-2

O95096

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Acts as a transcriptional activator. Required for themaintenance of NEUROD1 expression in the horomone-producingendocrine cells of the pancreas. May be involved in specifyingdiencephalic neuromeric boundaries, and in controlling theexpression of genes that play a role in axonal guidance.Associates with chromatin at the NEUROD1 promoter region. Binds toa subset of consensus elements within the NEUROD1 promoter (Bysimilarity). {ECO:0000250}.

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 TRBV5-1_NKX2-2


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 TRBV5-1_NKX2-2


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 TRBV5-1_NKX2-2


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 TRBV5-1_NKX2-2


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