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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KIAA1671-CHEK2 (FusionGDB2 ID:HG85379TG11200)

Fusion Gene Summary for KIAA1671-CHEK2

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1671-CHEK2
Fusion gene ID: hg85379tg11200
HgeneTgene
Gene symbol

KIAA1671

CHEK2

Gene ID

85379

11200

Gene nameKIAA1671checkpoint kinase 2
Synonyms-CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1
Cytomap('KIAA1671')('CHEK2')

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 date2020031320200320
UniProtAcc

Q9BY89

.
Ensembl transtripts involved in fusion geneENST00000358431, ENST00000401395, 
ENST00000406486, 
Fusion gene scores* DoF score20 X 13 X 10=26006 X 5 X 5=150
# samples 197
** MAII scorelog2(19/2600*10)=-3.77444029958487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointKIAA1671(25508429)-CHEK2(29130715), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4COADTCGA-A6-5657-01AKIAA1671chr22

25508429

+CHEK2chr22

29130715

-


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Fusion Gene ORF analysis for KIAA1671-CHEK2

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-5UTRENST00000358431ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000358431ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000401395ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000328354KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000348295KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382565KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382566KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382578KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000382580KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000402731KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000403642KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000404276KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000405598KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-5UTRENST00000406486ENST00000544772KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000358431ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000401395ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-
intron-intronENST00000406486ENST00000464581KIAA1671chr22

25508429

+CHEK2chr22

29130715

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for KIAA1671-CHEK2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for KIAA1671-CHEK2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:25508429/:29130715)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9BY89

.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for KIAA1671-CHEK2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for KIAA1671-CHEK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KIAA1671-CHEK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0009405Hereditary Nonpolyposis Colorectal Neoplasms12CLINGEN
TgeneC1112155Hereditary non-polyposis colorectal cancer syndrome12CLINGEN
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer12CLINGEN
TgeneC1333991Hereditary Non-Polyposis Colon Cancer Type 212CLINGEN
TgeneC2936783Colorectal cancer, hereditary nonpolyposis, type 112CLINGEN
TgeneC0346153Breast Cancer, Familial9CLINGEN
TgeneC0006142Malignant neoplasm of breast7CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0678222Breast Carcinoma4CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human4CTD_human
TgeneC1458155Mammary Neoplasms4CTD_human
TgeneC4704874Mammary Carcinoma, Human4CTD_human
TgeneC0085390Li-Fraumeni Syndrome3CTD_human;ORPHANET
TgeneC1836482Li-Fraumeni Syndrome 22CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009402Colorectal Carcinoma1CTD_human;GENOMICS_ENGLAND
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024302Reticulosarcoma1CTD_human
TgeneC0024304Lymphoma, Mixed-Cell1CTD_human
TgeneC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneC0024306Lymphoma, Undifferentiated1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0029463Osteosarcoma1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0079740High Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079741Lymphoma, Intermediate-Grade1CTD_human
TgeneC0079747Low Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
TgeneC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
TgeneC0206720Squamous Cell Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0238033Carcinoma of Male Breast1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0242788Breast Neoplasms, Male1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0677776Hereditary Breast and Ovarian Cancer Syndrome1ORPHANET
TgeneC0751688Malignant Squamous Cell Neoplasm1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2931456Prostate cancer, familial1CTD_human;ORPHANET
TgeneC3714542Lymphoma, Diffuse1CTD_human
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human
TgeneC4722327PROSTATE CANCER, HEREDITARY, 11CTD_human