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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: 30917

FusionGeneSummary for REEP3_MSH2

check button Fusion gene summary
Fusion gene informationFusion gene name: REEP3_MSH2
Fusion gene ID: 30917
HgeneTgene
Gene symbol

REEP3

MSH2

Gene ID

221035

4436

Gene namereceptor accessory protein 3mutS homolog 2
SynonymsC10orf74|Yip2bCOCA1|FCC1|HNPCC|HNPCC1|LCFS2
Cytomap

10q21.3

2p21-p16.3

Type of geneprotein-codingprotein-coding
Descriptionreceptor expression-enhancing protein 3DNA mismatch repair protein Msh2hMSH2mutS homolog 2, colon cancer, nonpolyposis type 1
Modification date2018051920180523
UniProtAcc

Q6NUK4

P43246

Ensembl transtripts involved in fusion geneENST00000298249, ENST00000373758, 
ENST00000233146, ENST00000543555, 
ENST00000406134, ENST00000461394, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 7 X 3=147
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: REEP3 [Title/Abstract] AND MSH2 [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
TgeneMSH2

GO:0006281

DNA repair

8942985

TgeneMSH2

GO:0006298

mismatch repair

7923193|11555625

TgeneMSH2

GO:0006301

postreplication repair

7923193

TgeneMSH2

GO:0045910

negative regulation of DNA recombination

17715146

TgeneMSH2

GO:0051096

positive regulation of helicase activity

17715146


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
ChiTaRS3.1BE501128REEP3chr10

65383530

-MSH2chr2

47801033

-
* 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
3UTR-intronENST00000298249ENST00000233146REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000298249ENST00000543555REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000298249ENST00000406134REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000298249ENST00000461394REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000373758ENST00000233146REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000373758ENST00000543555REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000373758ENST00000406134REEP3chr10

65383530

-MSH2chr2

47801033

-
3UTR-intronENST00000373758ENST00000461394REEP3chr10

65383530

-MSH2chr2

47801033

-

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FusionProtFeatures for REEP3_MSH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
REEP3

Q6NUK4

MSH2

P43246

Microtubule-binding protein required to ensure propercell division and nuclear envelope reassembly by sequestering theendoplasmic reticulum away from chromosomes during mitosis.Probably acts by clearing the endoplasmic reticulum membrane frommetaphase chromosomes. {ECO:0000269|PubMed:23911198}. Component of the post-replicative DNA mismatch repairsystem (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) whichbinds to DNA mismatches thereby initiating DNA repair. When bound,heterodimers bend the DNA helix and shields approximately 20 basepairs. MutS alpha recognizes single base mismatches anddinucleotide insertion-deletion loops (IDL) in the DNA. MutS betarecognizes larger insertion-deletion loops up to 13 nucleotideslong. After mismatch binding, MutS alpha or beta forms a ternarycomplex with the MutL alpha heterodimer, which is thought to beresponsible for directing the downstream MMR events, includingstrand discrimination, excision, and resynthesis. ATP binding andhydrolysis play a pivotal role in mismatch repair functions. TheATPase activity associated with MutS alpha regulates bindingsimilar to a molecular switch: mismatched DNA provokes ADP-->ATPexchange, resulting in a discernible conformational transitionthat converts MutS alpha into a sliding clamp capable ofhydrolysis-independent diffusion along the DNA backbone. Thistransition is crucial for mismatch repair. MutS alpha may alsoplay a role in DNA homologous recombination repair. In melanocytesmay modulate both UV-B-induced cell cycle regulation andapoptosis. {ECO:0000269|PubMed:10078208,ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730,ECO:0000269|PubMed:17611581, ECO:0000269|PubMed:21120944,ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679,ECO:0000269|PubMed:9822680}.

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 REEP3_MSH2


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 REEP3_MSH2


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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RelatedDrugs for REEP3_MSH2


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 REEP3_MSH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneREEP3C0004352Autistic Disorder1CTD_human
TgeneMSH2C2936783Colorectal cancer, hereditary nonpolyposis, type 148UNIPROT
TgeneMSH2C0009405Hereditary Nonpolyposis Colorectal Neoplasms4CTD_human
TgeneMSH2C0009404Colorectal Neoplasms1CTD_human
TgeneMSH2C0919267ovarian neoplasm1CTD_human
TgeneMSH2C2931459Lynch syndrome I (site-specific colonic cancer)1CTD_human