FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 26627

FusionGeneSummary for PEAK1_CIB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PEAK1_CIB2
Fusion gene ID: 26627
HgeneTgene
Gene symbol

PEAK1

CIB2

Gene ID

79834

10518

Gene namepseudopodium enriched atypical kinase 1calcium and integrin binding family member 2
SynonymsSGK269DFNB48|KIP2|USH1J
Cytomap

15q24.3

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionpseudopodium-enriched atypical kinase 1NKF3 kinase family membersugen kinase 269tyrosine-protein kinase SgK269calcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2
Modification date2018052320180519
UniProtAcc

Q9H792

O75838

Ensembl transtripts involved in fusion geneENST00000560626, ENST00000558305, 
ENST00000567337, ENST00000312493, 
ENST00000258930, ENST00000539011, 
ENST00000557846, ENST00000560618, 
Fusion gene scores* DoF score8 X 6 X 6=2885 X 2 X 4=40
# samples 85
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PEAK1 [Title/Abstract] AND CIB2 [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
HgenePEAK1

GO:0016477

cell migration

20534451

HgenePEAK1

GO:0034446

substrate adhesion-dependent cell spreading

20534451

HgenePEAK1

GO:0046777

protein autophosphorylation

20534451

HgenePEAK1

GO:0051893

regulation of focal adhesion assembly

23105102

TgeneCIB2

GO:0007204

positive regulation of cytosolic calcium ion concentration

23023331|26173970

TgeneCIB2

GO:0071318

cellular response to ATP

23023331|26173970


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
TCGALDBLCATCGA-BT-A42F-01APEAK1chr15

77578765

-CIB2chr15

78416081

-
* 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-3CDSENST00000560626ENST00000258930PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000560626ENST00000539011PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000560626ENST00000557846PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000560626ENST00000560618PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-3CDSENST00000558305ENST00000258930PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000558305ENST00000539011PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000558305ENST00000557846PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000558305ENST00000560618PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-3CDSENST00000567337ENST00000258930PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000567337ENST00000539011PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000567337ENST00000557846PEAK1chr15

77578765

-CIB2chr15

78416081

-
5UTR-intronENST00000567337ENST00000560618PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-3CDSENST00000312493ENST00000258930PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000312493ENST00000539011PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000312493ENST00000557846PEAK1chr15

77578765

-CIB2chr15

78416081

-
intron-intronENST00000312493ENST00000560618PEAK1chr15

77578765

-CIB2chr15

78416081

-

Top

FusionProtFeatures for PEAK1_CIB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PEAK1

Q9H792

CIB2

O75838

Probable catalytically inactive kinase. Scaffoldingprotein that regulates the cytoskeleton to control cell spreadingand migration by modulating focal adhesion dynamics(PubMed:23105102, PubMed:20534451). Acts as a scaffold formediating EGFR signaling (PubMed:23846654).{ECO:0000269|PubMed:20534451, ECO:0000269|PubMed:23105102,ECO:0000269|PubMed:23846654}. Calcium-binding protein critical for properphotoreceptor cell maintenance and function. Plays a role inintracellular calcium homeostasis by decreasing ATP-inducedcalcium release (PubMed:23023331, PubMed:26173970,PubMed:26426422). May be involved in the mechanotransductionprocess (By similarity). {ECO:0000250,ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970,ECO:0000269|PubMed:26426422}.

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


Top

FusionGeneSequence for PEAK1_CIB2


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).

Top

FusionGenePPI for PEAK1_CIB2


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
PEAK1CRK, GRB2, PPP1CC, PPP1CA, NCK2, CARD8, SH2D2A, AURKA, PPP1R3A, CRKL, SORT1, XRCC5, TOR1AIP1, CDH1, PTPRK, SHC1, VWA5A, BBS7, DQX1, PCDHB11, AARSD1, MTNR1BCIB2EMC2


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


Top

RelatedDrugs for PEAK1_CIB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCIB2O75838DB11093Calcium CitrateCalcium and integrin-binding family member 2small moleculeapproved
TgeneCIB2O75838DB11348Calcium PhosphateCalcium and integrin-binding family member 2small moleculeapproved

Top

RelatedDiseases for PEAK1_CIB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCIB2C1836199DEAFNESS, AUTOSOMAL RECESSIVE 483UNIPROT
TgeneCIB2C3553944USHER SYNDROME, TYPE IJ1CTD_human;UNIPROT