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Fusion gene ID: 11980 |
FusionGeneSummary for ERCC3_MAP3K2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERCC3_MAP3K2 | Fusion gene ID: 11980 | Hgene | Tgene | Gene symbol | ERCC3 | MAP3K2 | Gene ID | 2071 | 10746 |
| Gene name | ERCC excision repair 3, TFIIH core complex helicase subunit | mitogen-activated protein kinase kinase kinase 2 | |
| Synonyms | BTF2|GTF2H|RAD25|TFIIH|TTD2|XPB | MEKK2|MEKK2B | |
| Cytomap | 2q14.3 | 2q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | general transcription and DNA repair factor IIH helicase subunit XPBBTF2 p89DNA excision repair protein ERCC-3DNA repair helicaseDNA repair protein complementing XP-B cellsTFIIH 89 kDa subunitTFIIH basal transcription factor complex 89 kDa subunitT | mitogen-activated protein kinase kinase kinase 2MAP/ERK kinase kinase 2MAPK/ERK kinase kinase 2MEK kinase 2MEKK 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P19447 | Q9Y2U5 | |
| Ensembl transtripts involved in fusion gene | ENST00000285398, ENST00000493187, | ENST00000409947, ENST00000344908, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 3 X 2=12 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ERCC3 [Title/Abstract] AND MAP3K2 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ERCC3 | GO:0006283 | transcription-coupled nucleotide-excision repair | 8663148 |
| Hgene | ERCC3 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Hgene | ERCC3 | GO:0043065 | positive regulation of apoptotic process | 16914395 |
| Hgene | ERCC3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
| Tgene | MAP3K2 | GO:0045893 | positive regulation of transcription, DNA-templated | 14515274 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUAD | TCGA-50-6592-01A | ERCC3 | chr2 | 128038023 | - | MAP3K2 | chr2 | 128072459 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000285398 | ENST00000409947 | ERCC3 | chr2 | 128038023 | - | MAP3K2 | chr2 | 128072459 | - |
| In-frame | ENST00000285398 | ENST00000344908 | ERCC3 | chr2 | 128038023 | - | MAP3K2 | chr2 | 128072459 | - |
| Frame-shift | ENST00000493187 | ENST00000409947 | ERCC3 | chr2 | 128038023 | - | MAP3K2 | chr2 | 128072459 | - |
| Frame-shift | ENST00000493187 | ENST00000344908 | ERCC3 | chr2 | 128038023 | - | MAP3K2 | chr2 | 128072459 | - |
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FusionProtFeatures for ERCC3_MAP3K2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERCC3 | MAP3K2 |
| ATP-dependent 3'-5' DNA helicase, component of thegeneral transcription and DNA repair factor IIH (TFIIH) corecomplex, which is involved in general and transcription-couplednucleotide excision repair (NER) of damaged DNA and, whencomplexed to CAK, in RNA transcription by RNA polymerase II. InNER, TFIIH acts by opening DNA around the lesion to allow theexcision of the damaged oligonucleotide and its replacement by anew DNA fragment. The ATPase activity of XPB/ERCC3, but not itshelicase activity, is required for DNA opening. In transcription,TFIIH has an essential role in transcription initiation. When thepre-initiation complex (PIC) has been established, TFIIH isrequired for promoter opening and promoter escape. The ATP-dependent helicase activity of XPB/ERCC3 is required for promoteropening and promoter escape. Phosphorylation of the C-terminaltail (CTD) of the largest subunit of RNA polymerase II by thekinase module CAK controls the initiation of transcription.{ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:8157004}. | Component of a protein kinase signal transductioncascade. Regulates the JNK and ERK5 pathways by phosphorylatingand activating MAP2K5 and MAP2K7 (By similarity). Plays a role incaveolae kiss-and-run dynamics. {ECO:0000250,ECO:0000269|PubMed:10713157, ECO:0000269|PubMed:16001074}. |
| Retention 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 . * 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 |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 20_28 | 509 | 783 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 256_265 | 509 | 783 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 327_488 | 509 | 783 | Domain | Helicase ATP-binding |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 441_444 | 509 | 783 | Motif | Note=DEVH box |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 6_18 | 509 | 783 | Motif | Nuclear localization signal |
| Hgene | ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 340_347 | 509 | 783 | Nucleotide binding | ATP |
| - 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 |
| Hgene | >ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 697_700 | 509 | 783 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | >ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 721_728 | 509 | 783 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | >ERCC3 | chr2:128038023 | chr2:128072459 | ENST00000285398 | - | 9 | 15 | 542_702 | 509 | 783 | Domain | Helicase C-terminal |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000344908 | - | 12 | 16 | 357_617 | 442 | 620 | Domain | Protein kinase |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000344908 | - | 12 | 16 | 43_122 | 442 | 620 | Domain | PB1 |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000409947 | - | 13 | 17 | 357_617 | 442 | 620 | Domain | Protein kinase |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000409947 | - | 13 | 17 | 43_122 | 442 | 620 | Domain | PB1 |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000344908 | - | 12 | 16 | 362_371 | 442 | 620 | Nucleotide binding | ATP |
| Tgene | MAP3K2 | chr2:128038023 | chr2:128072459 | ENST00000409947 | - | 13 | 17 | 362_371 | 442 | 620 | Nucleotide binding | ATP |
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FusionGeneSequence for ERCC3_MAP3K2 |
| 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 ERCC3_MAP3K2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ERCC3 | BCR, GTF2H5, ERCC2, GTF2H4, GTF2H1, GTF2H2, GTF2H3, CDK7, CCNH, MNAT1, GTF2E1, GTF2E2, TP53, XPC, PSMC5, ERCC5, GCN1L1, ATF7IP, ZSCAN1, MYC, AR, POLR2A, ERCC6, COPS2, SIX5, MMS19, RAD52, POLR2C, UVSSA, E2F1, CDK8, CCNC, KPNA3, MSANTD2, SRPK2, XIAP, CEP70, NXF1, MCF2, CDC42, FGL1, GTF2H2C_2, GTF2H2C, MED4, GOLGA2, UBXN7, NFATC2, ZNF143, USP7, NSUN2, COX11, LZTS2, LRRC41, SPTA1, TRIM25 | MAP3K2 | SFN, MAP2K5, SH2D2A, YWHAE, MAP2K7, MAP2K4, MAPK8, XIAP, IKBKG, PIBF1, NEDD4, YWHAB, YWHAG, NEDD4L, STUB1, SMURF1, MAP3K2, MAP2K3, STK38, HSP90AA1, BIRC2, STAMBP, USP2, MAP3K3, MAPK7, STX3, YWHAZ, YWHAQ, TRAF7, CTNNB1, GSK3B, BTRC, AXIN1, AXIN2, RAB3IP, CBY1, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ERCC3_MAP3K2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MAP3K2 | Q9Y2U5 | DB06616 | Bosutinib | Mitogen-activated protein kinase kinase kinase 2 | small molecule | approved |
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RelatedDiseases for ERCC3_MAP3K2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERCC3 | C0268136 | Xeroderma pigmentosum, group B | 2 | CTD_human;UNIPROT |
| Hgene | ERCC3 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Hgene | ERCC3 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Hgene | ERCC3 | C4225344 | TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE | 1 | UNIPROT |
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