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Fusion gene ID: 43690 |
FusionGeneSummary for ZNF772_ERCC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZNF772_ERCC2 | Fusion gene ID: 43690 | Hgene | Tgene | Gene symbol | ZNF772 | ERCC2 | Gene ID | 400720 | 2068 |
| Gene name | zinc finger protein 772 | ERCC excision repair 2, TFIIH core complex helicase subunit | |
| Synonyms | - | COFS2|EM9|TFIIH|TTD|TTD1|XPD | |
| Cytomap | 19q13.43 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein 772 | general transcription and DNA repair factor IIH helicase subunit XPDBTF2 p80CXPDDNA excision repair protein ERCC-2DNA repair protein complementing XP-D cellsTFIIH 80 kDa subunitTFIIH basal transcription factor complex 80 kDa subunitTFIIH basal tran | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q68DY9 | P18074 | |
| Ensembl transtripts involved in fusion gene | ENST00000600175, ENST00000601768, ENST00000427512, ENST00000343280, ENST00000356584, ENST00000425074, | ENST00000391945, ENST00000391944, ENST00000485403, ENST00000391940, ENST00000221481, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ZNF772 [Title/Abstract] AND ERCC2 [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 |
| Tgene | ERCC2 | GO:0006283 | transcription-coupled nucleotide-excision repair | 8663148 |
| Tgene | ERCC2 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Tgene | ERCC2 | GO:0045893 | positive regulation of transcription, DNA-templated | 8692842 |
| Tgene | ERCC2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
| 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 | LD | GBM | TCGA-32-1970-01A | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| * 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 |
| intron-3CDS | ENST00000600175 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000600175 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000600175 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000600175 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000600175 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000601768 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000601768 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000601768 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000601768 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000601768 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000427512 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000427512 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000427512 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000427512 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000427512 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000343280 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000343280 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000343280 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000343280 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000343280 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000356584 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000356584 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000356584 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000356584 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000356584 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000425074 | ENST00000391945 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-3CDS | ENST00000425074 | ENST00000391944 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000425074 | ENST00000485403 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000425074 | ENST00000391940 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
| intron-intron | ENST00000425074 | ENST00000221481 | ZNF772 | chr19 | 57978327 | - | ERCC2 | chr19 | 45860957 | - |
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FusionProtFeatures for ZNF772_ERCC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZNF772 | ERCC2 |
| May be involved in transcriptional regulation.{ECO:0000250}. | ATP-dependent 5'-3' 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 ATP-dependent helicase activity of XPD/ERCC2is required for DNA opening. In transcription, TFIIH has anessential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is requiredfor promoter opening and promoter escape. Phosphorylation of theC-terminal tail (CTD) of the largest subunit of RNA polymerase IIby the kinase module CAK controls the initiation of transcription.XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIHcomplex. Involved in the regulation of vitamin-D receptoractivity. As part of the mitotic spindle-associated MMXD complexit plays a role in chromosome segregation. Might have a role inaging process and could play a causative role in the generation ofskin cancers. {ECO:0000269|PubMed:10024882,ECO:0000269|PubMed:15494306, ECO:0000269|PubMed:20797633,ECO:0000269|PubMed:8413672}. |
| 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 |
| - 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 ZNF772_ERCC2 |
| 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 ZNF772_ERCC2 |
| 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 |
| ZNF772 | PEX5, MOV10 | ERCC2 | ERCC3, GTF2H1, TP53, GTF2H2, ERCC5, ISG15, HERC5, TRIM25, ATF7IP, ERCC6, CCNH, CDK7, PIDD1, AR, GTF2H3, MNAT1, GTF2F1, MMS19, RAD52, UVSSA, FAM96B, CIAO1, GTF2H2C_2, CTPS1, ACAT1, CLUH, EIF2A, TOPBP1, WDR61, NTRK1, XPO1, GTF2H5, EGFR, SPTA1, UHRF2 |
| - 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 ZNF772_ERCC2 |
| 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 |
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RelatedDiseases for ZNF772_ERCC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ERCC2 | C0268138 | Xeroderma Pigmentosum, Complementation Group D | 8 | CTD_human;UNIPROT |
| Tgene | ERCC2 | C1866504 | Photosensitive Trichothiodystrophy | 6 | CTD_human;UNIPROT |
| Tgene | ERCC2 | C0005695 | Bladder Neoplasm | 2 | CTD_human |
| Tgene | ERCC2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | ERCC2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | ERCC2 | C0028797 | Occupational Diseases | 1 | CTD_human |
| Tgene | ERCC2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | ERCC2 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| Tgene | ERCC2 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | ERCC2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Tgene | ERCC2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | ERCC2 | C0038814 | Sunburn | 1 | CTD_human |
| Tgene | ERCC2 | C0079153 | Hyperkeratosis, Epidermolytic | 1 | CTD_human |
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