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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: 18739

FusionGeneSummary for KIAA1671_CHEK2

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1671_CHEK2
Fusion gene ID: 18739
HgeneTgene
Gene symbol

KIAA1671

CHEK2

Gene ID

85379

11200

Gene nameKIAA1671checkpoint kinase 2
Synonyms-CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1
Cytomap

22q11.23

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1671CTA-221G9.5serine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2
Modification date2018051920180527
UniProtAcc

Q9BY89

O96017

Ensembl transtripts involved in fusion geneENST00000406486, ENST00000358431, 
ENST00000401395, 
ENST00000382565, 
ENST00000382578, ENST00000382566, 
ENST00000348295, ENST00000544772, 
ENST00000404276, ENST00000328354, 
ENST00000405598, ENST00000382580, 
ENST00000402731, ENST00000403642, 
ENST00000464581, 
Fusion gene scores* DoF score14 X 8 X 9=10083 X 2 X 3=18
# samples 123
** MAII scorelog2(12/1008*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KIAA1671 [Title/Abstract] AND CHEK2 [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
TgeneCHEK2

GO:0006355

regulation of transcription, DNA-templated

12717439

TgeneCHEK2

GO:0006468

protein phosphorylation

12717439

TgeneCHEK2

GO:0006974

cellular response to DNA damage stimulus

24550317

TgeneCHEK2

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

12402044

TgeneCHEK2

GO:0042770

signal transduction in response to DNA damage

14744935

TgeneCHEK2

GO:0045893

positive regulation of transcription, DNA-templated

17101782

TgeneCHEK2

GO:0046777

protein autophosphorylation

16794575|18644861

TgeneCHEK2

GO:0050821

protein stabilization

12717439


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
TCGALDCOADTCGA-A6-5657-01AKIAA1671chr22

25508429

+CHEK2chr22

29130715

-
* 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-5UTRENST00000406486ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000406486ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000358431ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000401395ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-

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FusionProtFeatures for KIAA1671_CHEK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1671

Q9BY89

CHEK2

O96017


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 KIAA1671_CHEK2


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 KIAA1671_CHEK2


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
KIAA1671LATS2, STRN3, TJP2, YWHAB, CCDC8, LUZP4, WDR83, CAPZA2, SDF4, NEU2, PLK4, CEP192, CCDC67, CENPJ, SSX2IP, OFD1, CEP104, CEP162, CEP120, CEP152, CNTROB, CEP128, CEP135, CEP63, CEP89, CNTRL, NINL, NIN, ODF2, RPGRIP1L, POC5, DYNLT1, SASS6, RPGRIP1, PPP1CB, FBXL17, CDH1, SSH1, P4HA2, IL17RA, C6orf141, ASB3, PM20D2, NCAPH2, SKP2, F9, DCAF7, KIAA0430, HELZ, NISCH, SOWAHA, PAN2, EIF4ENIF1, PCGF5CHEK2MSH2, BRCA1, MDC1, PLK3, PLK1, GINS2, VCP, BRCA2, RAD50, TP53BP1, MUS81, CDC25A, MDM2, MDM4, FOXM1, ATR, CDC25C, REV3L, TP53, ATM, AATF, CHEK2, PPP2R2B, PPP2R5A, PPP2R5D, PPP2R5C, PPP2R5E, PPP2R5B, PPP2R1A, PPP2CA, ELAVL1, TRIM28, RNF8, PSME3, LATS2, KAT2B, PML, UBR5, DAPK3, RB1, KPNA2, APP, STRAP, CUL4A, CUL1, PER3, RCHY1, VHL, PRKDC, NR4A1, POLR2L, ARHGAP1, SRPK1, TEX264, SIRT1, CCAR2, ILKAP, MAPK1, MAPK3, BEX1, CCL5, CDH13, CYP17A1, DIRAS3, FAM84B, HOXC6, IL24, ITIH5, KLK7, KLK9, LYPD3, PRDM14, PSMC3IP, RHOBTB2, RNF20, ST14, WHSC1L1, BAALC, ENO1, GNAS, HMGN1, SLC25A6, PRMT2, STMN1, TLR3, SRPK2, FOS, FOXK1, FOXK2, SIAH2, ERBB2, KMT2D, CDK4, TP63, WEE1, CHEK1, CDC6, CDC73, BLM, RFC1, RAD17, FZR1, ATAD5, LLGL1, CDC14A, RPS10, WRN, DAAM1, TTN, BRD4, TUBA1A, PPM1D


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 KIAA1671_CHEK2


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 KIAA1671_CHEK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCHEK2C1836482Li-Fraumeni Syndrome 26CTD_human;UNIPROT
TgeneCHEK2C0376358Malignant neoplasm of prostate4UNIPROT
TgeneCHEK2C1458155Mammary Neoplasms4CTD_human
TgeneCHEK2C0085390Li-Fraumeni Syndrome2CTD_human;ORPHANET
TgeneCHEK2C0006142Malignant neoplasm of breast1UNIPROT
TgeneCHEK2C0009404Colorectal Neoplasms1CTD_human
TgeneCHEK2C0024121Lung Neoplasms1CTD_human
TgeneCHEK2C0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneCHEK2C0027819Neuroblastoma1CTD_human
TgeneCHEK2C0029463Osteosarcoma1CTD_human;HPO;ORPHANET
TgeneCHEK2C0033578Prostatic Neoplasms1CTD_human
TgeneCHEK2C0038356Stomach Neoplasms1CTD_human
TgeneCHEK2C0206720Squamous Cell Neoplasms1CTD_human
TgeneCHEK2C0242788Breast Neoplasms, Male1CTD_human
TgeneCHEK2C2931456Prostate cancer, familial1CTD_human;ORPHANET