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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CHEK2-C22orf31

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CHEK2-C22orf31
FusionPDB ID: 16418
FusionGDB2.0 ID: 16418
HgeneTgene
Gene symbol

CHEK2

C22orf31

Gene ID

11200

25770

Gene namecheckpoint kinase 2chromosome 22 open reading frame 31
SynonymsCDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1HS747E2A|bK747E2.1
Cytomap

22q12.1

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2uncharacterized protein C22orf31
Modification date2020032020200313
UniProtAcc

O96017

O95567

Ensembl transtripts involved in fusion geneENST idsENST00000544772, ENST00000328354, 
ENST00000348295, ENST00000382565, 
ENST00000382578, ENST00000382580, 
ENST00000405598, ENST00000382566, 
ENST00000402731, ENST00000403642, 
ENST00000404276, ENST00000464581, 
ENST00000216071, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=275 X 3 X 4=60
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CHEK2 [Title/Abstract] AND C22orf31 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CHEK2(29130391)-C22orf31(29456831), # samples:2
Anticipated loss of major functional domain due to fusion event.CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
CHEK2-C22orf31 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneCHEK2

GO:0006355

regulation of transcription, DNA-templated

12717439

HgeneCHEK2

GO:0006468

protein phosphorylation

12717439

HgeneCHEK2

GO:0006974

cellular response to DNA damage stimulus

24550317

HgeneCHEK2

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

12402044

HgeneCHEK2

GO:0042770

signal transduction in response to DNA damage

14744935

HgeneCHEK2

GO:0045893

positive regulation of transcription, DNA-templated

17101782

HgeneCHEK2

GO:0046777

protein autophosphorylation

16794575|18644861

HgeneCHEK2

GO:0050821

protein stabilization

12717439


check buttonFusion gene breakpoints across CHEK2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C22orf31 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LUSCTCGA-NC-A5HD-01ACHEK2chr22

29130391

-C22orf31chr22

29456831

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000382566CHEK2chr2229130391-ENST00000216071C22orf31chr2229456831-13313912951260321
ENST00000404276CHEK2chr2229130391-ENST00000216071C22orf31chr2229456831-12593192231188321
ENST00000402731CHEK2chr2229130391-ENST00000216071C22orf31chr2229456831-12593192231188321
ENST00000403642CHEK2chr2229130391-ENST00000216071C22orf31chr2229456831-12593192231188321

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
ENST00000382566ENST00000216071CHEK2chr2229130391-C22orf31chr2229456831-0.1175821050.8824179
ENST00000404276ENST00000216071CHEK2chr2229130391-C22orf31chr2229456831-0.118937380.8810626
ENST00000402731ENST00000216071CHEK2chr2229130391-C22orf31chr2229456831-0.118937380.8810626
ENST00000403642ENST00000216071CHEK2chr2229130391-C22orf31chr2229456831-0.118937380.8810626

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>16418_16418_1_CHEK2-C22orf31_CHEK2_chr22_29130391_ENST00000382566_C22orf31_chr22_29456831_ENST00000216071_length(amino acids)=321AA_BP=25
MRTKNLRTKNLRSLPLPPGLDYGPFRMDLPILHPINVRRDPSIPIYGLRQSILLNTRLQDCYVDSPALTNIWMARTCAKQNINAPAPATT
SSWEVVRNPLIASSFSLVKLVLRRQLKNKCCPPPCKFGEGKLSKRLKHKDDSVMKATQQARKRNFISSKSKQPAGHRRPAGGIRESKESS
KEKKLTVRQDLEDRYAEHVAATQALPQDSGTAAWKGRVLLPETQKRQQLSEDTLTIHGLPTEGYQALYHAVVEPMLWNPSGTPKRYSLEL

--------------------------------------------------------------

>16418_16418_2_CHEK2-C22orf31_CHEK2_chr22_29130391_ENST00000402731_C22orf31_chr22_29456831_ENST00000216071_length(amino acids)=321AA_BP=25
MRTKNLRTKNLRSLPLPPGLDYGPFRMDLPILHPINVRRDPSIPIYGLRQSILLNTRLQDCYVDSPALTNIWMARTCAKQNINAPAPATT
SSWEVVRNPLIASSFSLVKLVLRRQLKNKCCPPPCKFGEGKLSKRLKHKDDSVMKATQQARKRNFISSKSKQPAGHRRPAGGIRESKESS
KEKKLTVRQDLEDRYAEHVAATQALPQDSGTAAWKGRVLLPETQKRQQLSEDTLTIHGLPTEGYQALYHAVVEPMLWNPSGTPKRYSLEL

--------------------------------------------------------------

>16418_16418_3_CHEK2-C22orf31_CHEK2_chr22_29130391_ENST00000403642_C22orf31_chr22_29456831_ENST00000216071_length(amino acids)=321AA_BP=25
MRTKNLRTKNLRSLPLPPGLDYGPFRMDLPILHPINVRRDPSIPIYGLRQSILLNTRLQDCYVDSPALTNIWMARTCAKQNINAPAPATT
SSWEVVRNPLIASSFSLVKLVLRRQLKNKCCPPPCKFGEGKLSKRLKHKDDSVMKATQQARKRNFISSKSKQPAGHRRPAGGIRESKESS
KEKKLTVRQDLEDRYAEHVAATQALPQDSGTAAWKGRVLLPETQKRQQLSEDTLTIHGLPTEGYQALYHAVVEPMLWNPSGTPKRYSLEL

--------------------------------------------------------------

>16418_16418_4_CHEK2-C22orf31_CHEK2_chr22_29130391_ENST00000404276_C22orf31_chr22_29456831_ENST00000216071_length(amino acids)=321AA_BP=25
MRTKNLRTKNLRSLPLPPGLDYGPFRMDLPILHPINVRRDPSIPIYGLRQSILLNTRLQDCYVDSPALTNIWMARTCAKQNINAPAPATT
SSWEVVRNPLIASSFSLVKLVLRRQLKNKCCPPPCKFGEGKLSKRLKHKDDSVMKATQQARKRNFISSKSKQPAGHRRPAGGIRESKESS
KEKKLTVRQDLEDRYAEHVAATQALPQDSGTAAWKGRVLLPETQKRQQLSEDTLTIHGLPTEGYQALYHAVVEPMLWNPSGTPKRYSLEL

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr22:29130391/chr22:29456831)
- 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
CHEK2

O96017

C22orf31

O95567

FUNCTION: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978). {ECO:0000250|UniProtKB:Q9Z265, ECO:0000269|PubMed:10097108, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11298456, ECO:0000269|PubMed:12402044, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12717439, ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:16163388, ECO:0000269|PubMed:17101782, ECO:0000269|PubMed:17380128, ECO:0000269|PubMed:17715138, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:18644861, ECO:0000269|PubMed:18728393, ECO:0000269|PubMed:20364141, ECO:0000269|PubMed:25361978, ECO:0000269|PubMed:25619829, ECO:0000269|PubMed:9836640, ECO:0000269|PubMed:9889122}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215113_175106.33333333333333544.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215220_486106.33333333333333544.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214113_175106.33333333333333515.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214220_486106.33333333333333515.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214113_175106.33333333333333276.6666666666667DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214220_486106.33333333333333276.6666666666667DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213113_175106.33333333333333453.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213220_486106.33333333333333453.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216113_175106.33333333333333587.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216220_486106.33333333333333587.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113113_175106.33333333333333515.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113220_486106.33333333333333515.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112113_175106.33333333333333453.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112220_486106.33333333333333453.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114113_175106.33333333333333544.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114220_486106.33333333333333544.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316113_175106.33333333333333544.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316220_486106.33333333333333544.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216113_1750323.0DomainFHA
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216220_4860323.0DomainProtein kinase
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215227_234106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215302_308106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215351_352106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214227_234106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214302_308106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214351_352106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214227_234106.33333333333333276.6666666666667Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214302_308106.33333333333333276.6666666666667Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214351_352106.33333333333333276.6666666666667Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213227_234106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213302_308106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213351_352106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216227_234106.33333333333333587.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216302_308106.33333333333333587.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216351_352106.33333333333333587.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113227_234106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113302_308106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113351_352106.33333333333333515.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112227_234106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112302_308106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112351_352106.33333333333333453.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114227_234106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114302_308106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114351_352106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316227_234106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316302_308106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316351_352106.33333333333333544.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216227_2340323.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216302_3080323.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216351_3520323.0Nucleotide bindingNote=ATP
HgeneCHEK2chr22:29130391chr22:29456831ENST00000328354-215368_394106.33333333333333544.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000348295-214368_394106.33333333333333515.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382566-214368_394106.33333333333333276.6666666666667RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382578-213368_394106.33333333333333453.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000382580-216368_394106.33333333333333587.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000402731-113368_394106.33333333333333515.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000403642-112368_394106.33333333333333453.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000404276-114368_394106.33333333333333544.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000405598-316368_394106.33333333333333544.0RegionNote=T-loop/activation segment
HgeneCHEK2chr22:29130391chr22:29456831ENST00000544772-216368_3940323.0RegionNote=T-loop/activation segment


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CHEK2
C22orf31


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CHEK2-C22orf31


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CHEK2-C22orf31


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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