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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: 17833

FusionGeneSummary for ITGA6_PDK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGA6_PDK1
Fusion gene ID: 17833
HgeneTgene
Gene symbol

ITGA6

PDK1

Gene ID

3655

5170

Gene nameintegrin subunit alpha 63-phosphoinositide dependent protein kinase 1
SynonymsCD49f|ITGA6B|VLA-6PDK1|PDPK2|PDPK2P|PRO0461
Cytomap

2q31.1

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-6CD49 antigen-like family member Fintegrin alpha6Bintegrin, alpha 63-phosphoinositide-dependent protein kinase 13-phosphoinositide-dependent protein kinase 2 pseudogenePkB kinase like gene 1
Modification date2018052220180523
UniProtAcc

P23229

Q15118

Ensembl transtripts involved in fusion geneENST00000409532, ENST00000264107, 
ENST00000343713, ENST00000264106, 
ENST00000375221, ENST00000409080, 
ENST00000543905, ENST00000544863, 
ENST00000282077, ENST00000392571, 
ENST00000410055, 
Fusion gene scores* DoF score6 X 4 X 5=1202 X 2 X 2=8
# samples 62
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ITGA6 [Title/Abstract] AND PDK1 [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
TgenePDK1

GO:0006468

protein phosphorylation

14585963

TgenePDK1

GO:0006469

negative regulation of protein kinase activity

9373175

TgenePDK1

GO:0018107

peptidyl-threonine phosphorylation

9368760

TgenePDK1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17327236

TgenePDK1

GO:0032148

activation of protein kinase B activity

9368760

TgenePDK1

GO:0035556

intracellular signal transduction

14749367

TgenePDK1

GO:0051281

positive regulation of release of sequestered calcium ion into cytosol

22454520


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
TCGALDKIRCTCGA-B0-4816-01AITGA6chr2

173368979

+PDK1chr2

173420728

+
* 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-intronENST00000409532ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000409532ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000409532ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000409532ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000409532ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000264107ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000264107ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000264107ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000264107ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000264107ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000343713ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000343713ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000343713ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000343713ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000343713ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000264106ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000264106ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-5UTRENST00000264106ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-5UTRENST00000264106ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000264106ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000375221ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000375221ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000375221ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-5UTRENST00000375221ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
3UTR-intronENST00000375221ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000409080ENST00000543905ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000409080ENST00000544863ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-5UTRENST00000409080ENST00000282077ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-5UTRENST00000409080ENST00000392571ITGA6chr2

173368979

+PDK1chr2

173420728

+
5CDS-intronENST00000409080ENST00000410055ITGA6chr2

173368979

+PDK1chr2

173420728

+

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FusionProtFeatures for ITGA6_PDK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGA6

P23229

PDK1

Q15118

Kinase that plays a key role in regulation of glucoseand fatty acid metabolism and homeostasis via phosphorylation ofthe pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibitspyruvate dehydrogenase activity, and thereby regulates metaboliteflux through the tricarboxylic acid cycle, down-regulates aerobicrespiration and inhibits the formation of acetyl-coenzyme A frompyruvate. Plays an important role in cellular responses to hypoxiaand is important for cell proliferation under hypoxia. Protectscells against apoptosis in response to hypoxia and oxidativestress. {ECO:0000269|PubMed:17683942, ECO:0000269|PubMed:18541534,ECO:0000269|PubMed:22195962, ECO:0000269|PubMed:7499431}.

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 ITGA6_PDK1


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 ITGA6_PDK1


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
ITGA6GIPC1, TSPAN4, ITGB1, CD36, RABIF, BIN1, CALM1, APP, PDIA3, MOV10, NXF1, LGALS8, MCOLN3, HLA-C, B4GALT4, HLA-E, BTNL8, CANT1, PTCH1, PICK1, PON2, LGALS3BP, TMEM17, CDH1, CTDSPL, TSPAN11, PCDHGA5, TMPRSS11B, TMED6, HLA-DRB1, GML, PCDHB16, PCDH20, TRIM25PDK1PDK2, RALGDS, MTOR, RPS6KB1, RPTOR, PKN2, PKN1, DLAT, SGK1, XRCC6, MYC, USP4, KAT2B, PDK1, EGFR, LAMTOR5, HLA-DPA1, PDHB, HLA-B, PDK3, PDHX, PDHA1, OXLD1, TNK2, COL4A5, HMGN1, MYH1, CCDC93, SPG7, STXBP2, MKNK1, CELF2, SRCAP, RASSF8, RIMS1, VWA8, COG4, PVRL3, PYCR2, NSFL1C, ZNFX1, VKORC1, ILKAP, TRIM47, ATG4A, NRBP2, PIK3CA, FOXD4, PDK4, CRBN, NDUFS7, ACAD9, SLC18A1, APLNR, LAMP3, TRMT61B, NME2P1, DENR


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 ITGA6_PDK1


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 ITGA6_PDK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGA6C0003873Rheumatoid Arthritis1CTD_human