FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 42229

FusionGeneSummary for XRCC6_SREBF2

check button Fusion gene summary
Fusion gene informationFusion gene name: XRCC6_SREBF2
Fusion gene ID: 42229
HgeneTgene
Gene symbol

XRCC6

SREBF2

Gene ID

2547

6721

Gene nameX-ray repair cross complementing 6sterol regulatory element binding transcription factor 2
SynonymsCTC75|CTCBF|G22P1|KU70|ML8|TLAASREBP-2|SREBP2|bHLHd2
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
DescriptionX-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 date2018052320180522
UniProtAcc

P12956

Q12772

Ensembl transtripts involved in fusion geneENST00000360079, ENST00000402580, 
ENST00000428575, ENST00000359308, 
ENST00000405878, ENST00000405506, 
ENST00000361204, ENST00000491541, 
Fusion gene scores* DoF score7 X 5 X 7=24512 X 12 X 5=720
# samples 714
** MAII scorelog2(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 annotationDDR (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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneXRCC6

GO:0002218

activation of innate immune response

28712728

HgeneXRCC6

GO:0045860

positive regulation of protein kinase activity

22504299

HgeneXRCC6

GO:0045893

positive regulation of transcription, DNA-templated

12145306

HgeneXRCC6

GO:0051290

protein heterotetramerization

24095731

HgeneXRCC6

GO:0071480

cellular response to gamma radiation

26359349

HgeneXRCC6

GO:0097680

double-strand break repair via classical nonhomologous end joining

24095731

TgeneSREBF2

GO:0000122

negative regulation of transcription by RNA polymerase II

15358760|19098903

TgeneSREBF2

GO:0010886

positive regulation of cholesterol storage

15358760

TgeneSREBF2

GO:0045944

positive regulation of transcription by RNA polymerase II

12242332|12446768

TgeneSREBF2

GO:0072368

regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter

15358760

TgeneSREBF2

GO:0090370

negative regulation of cholesterol efflux

15358760


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
TCGALDSTADTCGA-D7-A4YY-01AXRCC6chr22

42033795

+SREBF2chr22

42262835

+
* 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
Frame-shitENST00000360079ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000360079ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+
Frame-shitENST00000402580ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000402580ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+
Frame-shitENST00000428575ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000428575ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+
Frame-shitENST00000359308ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000359308ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+
Frame-shitENST00000405878ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000405878ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+
Frame-shitENST00000405506ENST00000361204XRCC6chr22

42033795

+SREBF2chr22

42262835

+
5CDS-intronENST00000405506ENST00000491541XRCC6chr22

42033795

+SREBF2chr22

42262835

+

Top

FusionProtFeatures for XRCC6_SREBF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XRCC6

P12956

SREBF2

Q12772

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}.

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


Top

FusionGeneSequence for XRCC6_SREBF2


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).

Top

FusionGenePPI for XRCC6_SREBF2


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
XRCC6VAV1, 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, YAP1SREBF2INSIG1, 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


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


Top

RelatedDrugs for XRCC6_SREBF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for XRCC6_SREBF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSREBF2C0021655Insulin Resistance1CTD_human
TgeneSREBF2C0022661Kidney Failure, Chronic1CTD_human
TgeneSREBF2C0036341Schizophrenia1PSYGENET
TgeneSREBF2C0038356Stomach Neoplasms1CTD_human
TgeneSREBF2C2239176Liver carcinoma1CTD_human