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Fusion gene ID: 31439 |
FusionGeneSummary for RNF144A_MSH2 |
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Fusion gene information | Fusion gene name: RNF144A_MSH2 | Fusion gene ID: 31439 | Hgene | Tgene | Gene symbol | RNF144A | MSH2 | Gene ID | 9781 | 4436 |
Gene name | ring finger protein 144A | mutS homolog 2 | |
Synonyms | RNF144|UBCE7IP4|hUIP4 | COCA1|FCC1|HNPCC|HNPCC1|LCFS2 | |
Cytomap | 2p25.1 | 2p21-p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 ubiquitin-protein ligase RNF144AUbcM4-interacting protein 4probable E3 ubiquitin-protein ligase RNF144Aring finger protein 144ubiquitin conjugating enzyme 7 interacting protein 4 | DNA mismatch repair protein Msh2hMSH2mutS homolog 2, colon cancer, nonpolyposis type 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P50876 | P43246 | |
Ensembl transtripts involved in fusion gene | ENST00000320892, ENST00000467276, | ENST00000233146, ENST00000543555, ENST00000406134, ENST00000461394, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 7 X 7 X 3=147 |
# samples | 4 | 8 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RNF144A [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | MSH2 | GO:0006281 | DNA repair | 8942985 |
Tgene | MSH2 | GO:0006298 | mismatch repair | 7923193|11555625 |
Tgene | MSH2 | GO:0006301 | postreplication repair | 7923193 |
Tgene | MSH2 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
Tgene | MSH2 | GO:0051096 | positive regulation of helicase activity | 17715146 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SKCM | TCGA-DA-A95Y-06A | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000320892 | ENST00000233146 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
5UTR-3CDS | ENST00000320892 | ENST00000543555 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
5UTR-3CDS | ENST00000320892 | ENST00000406134 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
5UTR-intron | ENST00000320892 | ENST00000461394 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
3UTR-3CDS | ENST00000467276 | ENST00000233146 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
3UTR-3CDS | ENST00000467276 | ENST00000543555 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
3UTR-3CDS | ENST00000467276 | ENST00000406134 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
3UTR-intron | ENST00000467276 | ENST00000461394 | RNF144A | chr2 | 7081278 | + | MSH2 | chr2 | 47635540 | + |
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FusionProtFeatures for RNF144A_MSH2 |
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Hgene | Tgene |
RNF144A | MSH2 |
E3 ubiquitin-protein ligase which accepts ubiquitin fromE2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form ofa thioester and then directly transfers the ubiquitin to targetedsubstrates. Mediates the ubiquitination and degradation of the DNAdamage kinase PRKDC. {ECO:0000250, ECO:0000269|PubMed:24979766}. | 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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RNF144A_MSH2 |
![]() (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 RNF144A_MSH2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RNF144A | E2F2, E2F1, E2F3, E2F4, UBE2L3, UBE2L6, UBE2H, UBE2V1, UBE2V2, UBE2K, USP21, USP32, PRKDC, RNF144A, CKAP4 | MSH2 | BRCA1, PTP4A3, BARD1, BLM, CHEK1, CHEK2, ATM, MLH1, MRE11A, NBN, RAD50, MSH6, RFC1, MSH3, ATR, MAX, MYC, ATRIP, PCNA, MSH2, EXO1, OTUB1, SLX4, PMS2, AIRE, PRKCZ, XPA, RPA4, MGMT, TP53, ESR1, ESR2, SNW1, CREBBP, FANCA, GRB7, RPP14, TK1, CDKN1A, SMN1, ANXA7, DTL, SMARCAD1, CDK9, NELFB, PMS1, RAD51, XRCC6, SIRT7, FANCD2, CDK2, HUS1, RAD1, RAD9A, MUTYH, SRSF5, SART1, SRSF11, SRSF7, IK, RBM25, SMARCA5, SRSF10, RPS24, TOP2B, SEPT9, RAD21, HNRNPD, SUPT16H, ERCC1, ERCC4, HDAC6, ATP6V1B2, CUL2, JUP, DPYSL3, XRCC5, NRD1, PDE3A, SEC23A, ST13, STAT3, SUPT5H, RPA3, RPA2, RPA1, POLK, REV1, CCDC8, SUMO2, SIRT6, ANXA6, DNAJC9, EIF3B, FEN1, AARS, CIAPIN1, DHX15, PFDN4, RECQL, RPLP0, RPS5, TRIP13, ZW10, NMD3, SNX27, TIPRL, TPP2, TPT1, NTRK1, CEP19, E2F3, CDC5L, RNF126, UBXN8, FAF2, USP10, ZNF746, CDC14B, RAF1, RPGRIP1L, BRIP1, TOP1, TOP2A, TOP3A, TRIM25, TES, MCM9, MCM8 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RNF144A_MSH2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RNF144A_MSH2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MSH2 | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 48 | UNIPROT |
Tgene | MSH2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 4 | CTD_human |
Tgene | MSH2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | MSH2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | MSH2 | C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | CTD_human |