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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: 27365

FusionGeneSummary for PKIB_BLK

check button Fusion gene summary
Fusion gene informationFusion gene name: PKIB_BLK
Fusion gene ID: 27365
HgeneTgene
Gene symbol

PKIB

BLK

Gene ID

5570

640

Gene namecAMP-dependent protein kinase inhibitor betaBLK proto-oncogene, Src family tyrosine kinase
SynonymsPRKACN2MODY11
Cytomap

6q22.31

8p23.1

Type of geneprotein-codingprotein-coding
DescriptioncAMP-dependent protein kinase inhibitor betaPKI-betacAMP-dependent protein kinase inhibitor 2protein kinase (cAMP-dependent, catalytic) inhibitor betatyrosine-protein kinase BlkB lymphoid tyrosine kinaseBLK nonreceptor tyrosine kinaseb lymphocyte kinasep55-Blk
Modification date2018052320180528
UniProtAcc

Q9C010

P51451

Ensembl transtripts involved in fusion geneENST00000392491, ENST00000607474, 
ENST00000368452, ENST00000368448, 
ENST00000392490, ENST00000258014, 
ENST00000354275, ENST00000368446, 
ENST00000259089, ENST00000529894, 
ENST00000525389, 
Fusion gene scores* DoF score4 X 2 X 3=244 X 4 X 3=48
# samples 34
** MAII scorelog2(3/24*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PKIB [Title/Abstract] AND BLK [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
TgeneBLK

GO:0050853

B cell receptor signaling pathway

876631


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
TCGARVACCTCGA-OR-A5JY-01APKIBchr6

122954512

+BLKchr8

11418811

+
* 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-3CDSENST00000392491ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000392491ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-intronENST00000392491ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000607474ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000607474ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
intron-intronENST00000607474ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000368452ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000368452ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-intronENST00000368452ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000368448ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000368448ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-intronENST00000368448ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000392490ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-3CDSENST00000392490ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
5UTR-intronENST00000392490ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000258014ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000258014ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
intron-intronENST00000258014ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000354275ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000354275ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
intron-intronENST00000354275ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000368446ENST00000259089PKIBchr6

122954512

+BLKchr8

11418811

+
intron-3CDSENST00000368446ENST00000529894PKIBchr6

122954512

+BLKchr8

11418811

+
intron-intronENST00000368446ENST00000525389PKIBchr6

122954512

+BLKchr8

11418811

+

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FusionProtFeatures for PKIB_BLK


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

Q9C010

BLK

P51451

Extremely potent competitive inhibitor of cAMP-dependentprotein kinase activity, this protein interacts with the catalyticsubunit of the enzyme after the cAMP-induced dissociation of itsregulatory chains. {ECO:0000250}. Non-receptor tyrosine kinase involved in B-lymphocytedevelopment, differentiation and signaling. B-cell receptor (BCR)signaling requires a tight regulation of several protein tyrosinekinases and phosphatases, and associated coreceptors. Binding ofantigen to the B-cell antigen receptor (BCR) triggers signalingthat ultimately leads to B-cell activation. Signaling through BLKplays an important role in transmitting signals through surfaceimmunoglobulins and supports the pro-B to pre-B transition, aswell as the signaling for growth arrest and apoptosis downstreamof B-cell receptor. Specifically binds and phosphorylates CD79A at'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207'. Phosphorylates also the immunoglobulin G receptors FCGR2A,FCGR2B and FCGR2C. With FYN and LYN, plays an essential role inpre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation.Contributes also to BTK activation by indirectly stimulating BTKintramolecular autophosphorylation. In pancreatic islets, acts asa modulator of beta-cells function through the up-regulation ofPDX1 and NKX6-1 and consequent stimulation of insulin secretion inresponse to glucose. {ECO:0000269|PubMed:19667185,ECO:0000269|PubMed:8756631}.

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 PKIB_BLK


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 PKIB_BLK


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
PKIBE2F1, E2F3, PIN1, LY6D, NLGN3BLKUBE3A, BCL2, BCL2L1, PLCG2, CD79A, CD79B, CBL, HSP90AA1, EGFR, ERBB2, STAT3, EFS, CCDC33, ANKRD54, ATP5A1, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATPIF1, YBX3, EEF1E1, EEF2, GAPDH, GNG12, HSP90B1, PHB2, SNRPD1, USMG5, CYTIP, A4GNT, FAM217B, SLC30A4, CAMK1, GLRA2, GLYR1, RNASE3, SYCP3, SENP1, APBB3, EDEM2, SCGB1A1


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 PKIB_BLK


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 PKIB_BLK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBLKC0003873Rheumatoid Arthritis2CTD_human
TgeneBLKC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneBLKC0026691Mucocutaneous Lymph Node Syndrome1CTD_human