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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: 18238

FusionGeneSummary for KCNAB1_TCF7L1

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNAB1_TCF7L1
Fusion gene ID: 18238
HgeneTgene
Gene symbol

KCNAB1

TCF7L1

Gene ID

7881

83439

Gene namepotassium voltage-gated channel subfamily A member regulatory beta subunit 1transcription factor 7 like 1
SynonymsAKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3TCF-3|TCF3
Cytomap

3q25.31

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionvoltage-gated potassium channel subunit beta-1K(+) channel subunit beta-1K+ channel Beta1a chainpotassium channel beta 3 chainpotassium channel beta3 subunitpotassium channel shaker chain beta 1apotassium channel, voltage gated subfamily A regulatortranscription factor 7-like 1HMG box transcription factor 3transcription factor 7-like 1 (T-cell specific, HMG-box)
Modification date2018052220180523
UniProtAcc

Q14722

Q9HCS4

Ensembl transtripts involved in fusion geneENST00000490337, ENST00000389636, 
ENST00000471742, ENST00000302490, 
ENST00000389634, ENST00000497291, 
ENST00000282111, ENST00000494519, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 6 X 4=144
# samples 46
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNAB1 [Title/Abstract] AND TCF7L1 [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
HgeneKCNAB1

GO:1901379

regulation of potassium ion transmembrane transport

7890032


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
ChiTaRS3.1X83127KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
* 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
3UTR-intronENST00000490337ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000490337ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000389636ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000389636ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000471742ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000471742ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000302490ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000302490ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
intron-intronENST00000389634ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
intron-intronENST00000389634ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000497291ENST00000282111KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+
3UTR-intronENST00000497291ENST00000494519KCNAB1chr3

156254664

+TCF7L1chr2

85437747

+

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FusionProtFeatures for KCNAB1_TCF7L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNAB1

Q14722

TCF7L1

Q9HCS4

Participates in the Wnt signaling pathway. Binds to DNAand acts as a repressor in the absence of CTNNB1, and as anactivator in its presence. Necessary for the terminaldifferentiation of epidermal cells, the formation of keratohyalingranules and the development of the barrier function of theepidermis (By similarity). Down-regulates NQO1, leading toincreased mitomycin c resistance. {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 KCNAB1_TCF7L1


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 KCNAB1_TCF7L1


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 KCNAB1_TCF7L1


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 KCNAB1_TCF7L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTCF7L1C0040136Thyroid Neoplasm1CTD_human