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Fusion gene ID: 42229 |
FusionGeneSummary for XRCC6_SREBF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: XRCC6_SREBF2 | Fusion gene ID: 42229 | Hgene | Tgene | Gene symbol | XRCC6 | SREBF2 | Gene ID | 2547 | 6721 |
| Gene name | X-ray repair cross complementing 6 | sterol regulatory element binding transcription factor 2 | |
| Synonyms | CTC75|CTCBF|G22P1|KU70|ML8|TLAA | SREBP-2|SREBP2|bHLHd2 | |
| Cytomap | 22q13.2 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | X-ray repair cross-complementing protein 65'-dRP lyase Ku705'-deoxyribose-5-phosphate lyase Ku7070 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 1ATP-dependent DNA helicase II, 70 kDa subunitCTC box binding factor 75 kDa subunitDNA | sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P12956 | Q12772 | |
| Ensembl transtripts involved in fusion gene | ENST00000360079, ENST00000402580, ENST00000428575, ENST00000359308, ENST00000405878, ENST00000405506, | ENST00000361204, ENST00000491541, | |
| Fusion gene scores | * DoF score | 7 X 5 X 7=245 | 12 X 12 X 5=720 |
| # samples | 7 | 14 | |
| ** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/720*10)=-2.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: XRCC6 [Title/Abstract] AND SREBF2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | XRCC6 | GO:0002218 | activation of innate immune response | 28712728 |
| Hgene | XRCC6 | GO:0045860 | positive regulation of protein kinase activity | 22504299 |
| Hgene | XRCC6 | GO:0045893 | positive regulation of transcription, DNA-templated | 12145306 |
| Hgene | XRCC6 | GO:0051290 | protein heterotetramerization | 24095731 |
| Hgene | XRCC6 | GO:0071480 | cellular response to gamma radiation | 26359349 |
| Hgene | XRCC6 | GO:0097680 | double-strand break repair via classical nonhomologous end joining | 24095731 |
| Tgene | SREBF2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15358760|19098903 |
| Tgene | SREBF2 | GO:0010886 | positive regulation of cholesterol storage | 15358760 |
| Tgene | SREBF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12242332|12446768 |
| Tgene | SREBF2 | GO:0072368 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter | 15358760 |
| Tgene | SREBF2 | GO:0090370 | negative regulation of cholesterol efflux | 15358760 |
| 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 | STAD | TCGA-D7-A4YY-01A | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| * 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 |
| Frame-shift | ENST00000360079 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000360079 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| Frame-shift | ENST00000402580 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000402580 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| Frame-shift | ENST00000428575 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000428575 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| Frame-shift | ENST00000359308 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000359308 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| Frame-shift | ENST00000405878 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000405878 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| Frame-shift | ENST00000405506 | ENST00000361204 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
| 5CDS-intron | ENST00000405506 | ENST00000491541 | XRCC6 | chr22 | 42033795 | + | SREBF2 | chr22 | 42262835 | + |
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FusionProtFeatures for XRCC6_SREBF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| XRCC6 | SREBF2 |
| Single-stranded DNA-dependent ATP-dependent helicase.Has a role in chromosome translocation. The DNA helicase IIcomplex binds preferentially to fork-like ends of double-strandedDNA in a cell cycle-dependent manner. It works in the 3'-5'direction. Binding to DNA may be mediated by XRCC6. Involved inDNA non-homologous end joining (NHEJ) required for double-strandbreak repair and V(D)J recombination. The XRCC5/6 dimer acts asregulatory subunit of the DNA-dependent protein kinase complexDNA-PK by increasing the affinity of the catalytic subunit PRKDCto DNA by 100-fold. The XRCC5/6 dimer is probably involved instabilizing broken DNA ends and bringing them together. Theassembly of the DNA-PK complex to DNA ends is required for theNHEJ ligation step. Required for osteocalcin gene expression.Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRPlyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5'-dRPlyase activity allows to 'clean' the termini of abasic sites, aclass of nucleotide damage commonly associated with strand breaks,before such broken ends can be joined. The XRCC5/6 dimer togetherwith APEX1 acts as a negative regulator of transcription. Plays arole in the regulation of DNA virus-mediated innate immuneresponse by assembling into the HDP-RNP complex, a complex thatserves as a platform for IRF3 phosphorylation and subsequentinnate immune response activation through the cGAS-STING pathway.{ECO:0000269|PubMed:12145306, ECO:0000269|PubMed:20383123,ECO:0000269|PubMed:20493174, ECO:0000269|PubMed:2466842,ECO:0000269|PubMed:28712728, ECO:0000269|PubMed:7957065,ECO:0000269|PubMed:8621488, ECO:0000269|PubMed:9742108}. | Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {ECO:0000250}. |
| 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 XRCC6_SREBF2 |
| 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 XRCC6_SREBF2 |
| 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 |
| XRCC6 | VAV1, NCF4, XRCC5, MRE11A, CBX5, AR, CCNA1, CDK2, TERF2IP, CHEK1, NCOA6, KAT2A, CREBBP, ACD, CDCA5, ARAP1, FMNL1, GAL3ST4, ILVBL, NOTCH1, PGAM1, RBBP4, TBCD, ABCD4, PLGRKT, GSE1, NHP2L1, NIT1, PECAM1, RRAS2, SNTA1, ATP6V1E1, PAEP, PAFAH1B3, RPLP1, SERPINB9, YWHAZ, XRCC6BP1, CLU, PRKDC, RPA2, TERT, DNTT, HOXC4, HOXD4, DLX2, POU2F2, POU2F1, TAL1, TERF2, WRN, BIN1, PTTG1, CD40, PCNA, HSF1, ABL1, DHX9, FCHSD1, SIRT6, NR1H4, CHD1L, TP53, BARD1, ESR1, PARP1, SIRT3, MGMT, PDX1, SRRM2, MSX2, RUNX2, NAA15, H2AFX, PHF1, XRCC4, LIG4, KAT2B, EP300, ATXN3, ILF2, THRA, THRB, BIRC5, CHAF1A, HIST1H3A, HIST1H3E, H3F3A, BAZ1A, MYC, USF1, HDAC5, UBE3A, RBM39, MDM2, BAX, DDB2, PSMA3, CMTM6, RPS10, RASA1, EFNA1, TAC1, PDK1, CENPU, KIAA0408, EID1, VBP1, SDHC, PDPK1, ANXA1, BTG1, PNRC2, QRSL1, RGS2, MAP4K2, HERPUD1, SEP15, SPARC, COIL, LIG3, HOXB7, YY1, RNF146, SMARCAD1, ORC3, ORC2, ORC6, ORC4, TCF7L2, NDRG1, HDGF, ILF3, MSH6, MSH2, CBX1, CBX3, CEBPA, ARRB2, SIRT7, HNRNPA1, CFLAR, HDAC6, ERG, ISG15, TONSL, CUL5, COPS5, CAND1, HTT, CLTC, TADA3, CCT3, KCND3, ARHGAP5, EEF2, SDHA, HSPA5, KIF23, PGR, XRCC6, BRCA1, ECT2, PAXIP1, TP53BP1, NCL, CSNK2A1, SMURF1, PNKP, FN1, VCAM1, GZMA, GZMB, SMAD7, SKIL, SMAD3, ZNF512B, ITGA4, PPID, IGSF8, ICAM1, HMGA1, HMGA2, LMNA, CTBP2, COPB1, ADCY7, EPS8, MAP2K5, CAPN11, SERPINA2, TARDBP, PARK2, PRPF40A, WBP4, PIN1, CTNNA1, CUL2, CSDE1, FARSB, GANAB, GART, IMPDH1, JUP, DPYSL3, PLOD2, RANBP3, SAMHD1, SET, ST13, SUPT5H, SWAP70, ATP6V1B2, HYOU1, RPSA, NARS, RPA1, RPA3, ATRX, EMD, ELF3, EHF, ENO1, SHMT2, MOV10, NXF1, PPARG, CUL7, OBSL1, CCDC8, EED, SUMO2, MAST3, WDR76, APLF, PHRF1, NTRK1, DYNC1LI1, GTF2I, HNRNPK, NAE1, PDIA3, RFC1, TKT, TMOD3, SCARNA22, CSNK1A1, DNM2, BAG2, ANKRD28, POT1, TINF2, TNRC18, CCDC57, C9orf142, BANP, CRY2, MACROD1, MCM2, NF2, SNW1, TFAP2A, UHRF2, U2AF2, RC3H1, FOXL2, NFATC1, NFATC2, AHSA1, RNF126, PARP2, XPC, SUPT16H, XRCC1, H2AFY, CDK5RAP1, SSRP1, SPTA1, COX15, DLD, DLST, DNM1L, HSD17B10, SOD1, VDAC1, TRIM25, UBE2S, YAP1 | SREBF2 | INSIG1, UBE2I, CREBBP, EP300, KPNB1, SREBF2, SP1, CASP3, MAPK3, MAPK1, ARRB1, EGR1, FHL3, GOLGB1, HSPA5, ITGB4, ABLIM1, NFYA, PSMD4, ATXN1, SPTBN1, NFYC, CREB1, TTC1, ZMYM2, ZYX, PIAS1, SLC4A4, PIAS2, ARHGEF1, CASP8AP2, PIAS3, OS9, COPS5, ZDHHC17, ATF7IP, ABLIM2, LZTR1, KLF13, ATF6, HNF4A, SMAD3, RNF139, HINFP, NPAT, TRRAP, SREBF1, SCAP, PARK7, NAE1, MRPS6, ERLIN2, HDAC3, SPINT2, HLA-DPA1, NRG1, CGRRF1, PTH1R, SLC39A4, AURKA, CDH5, ZNRF4, TMCO3, DKK3, CHRND, IL17RC, CD79B, SLC4A8, SLC39A12, MTNR1B |
| - 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 XRCC6_SREBF2 |
| 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 XRCC6_SREBF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SREBF2 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | SREBF2 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Tgene | SREBF2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | SREBF2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | SREBF2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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