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Fusion gene ID: 42220 |
FusionGeneSummary for XRCC5_ABCB1 |
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Fusion gene information | Fusion gene name: XRCC5_ABCB1 | Fusion gene ID: 42220 | Hgene | Tgene | Gene symbol | XRCC5 | ABCB1 | Gene ID | 7520 | 5243 |
Gene name | X-ray repair cross complementing 5 | ATP binding cassette subfamily B member 1 | |
Synonyms | KARP-1|KARP1|KU80|KUB2|Ku86|NFIV | ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1 | |
Cytomap | 2q35 | 7q21.12 | |
Type of gene | protein-coding | protein-coding | |
Description | X-ray repair cross-complementing protein 586 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 2ATP-dependent DNA helicase II 80 kDa subunitCTC box-binding factor 85 kDa subunitCTC85CTCBFDNA repair protein XRCC5Ku autoantigen, 80kDaKu | multidrug resistance protein 1ATP-binding cassette, sub-family B (MDR/TAP), member 1P glycoproteinP-glycoprotein 1colchicin sensitivitydoxorubicin resistance | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P13010 | P08183 | |
Ensembl transtripts involved in fusion gene | ENST00000392133, ENST00000392132, ENST00000471649, | ENST00000265724, ENST00000543898, ENST00000488737, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 3=48 |
# samples | 3 | 4 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: XRCC5 [Title/Abstract] AND ABCB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | XRCC5 | GO:0002218 | activation of innate immune response | 28712728 |
Hgene | XRCC5 | GO:0006303 | double-strand break repair via nonhomologous end joining | 26359349 |
Hgene | XRCC5 | GO:0045860 | positive regulation of protein kinase activity | 22504299 |
Hgene | XRCC5 | GO:0071480 | cellular response to gamma radiation | 26359349 |
Tgene | ABCB1 | GO:0000086 | G2/M transition of mitotic cell cycle | 19384922 |
Tgene | ABCB1 | GO:0045332 | phospholipid translocation | 8898203 |
Tgene | ABCB1 | GO:0099040 | ceramide translocation | 8898203 |
![]() (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 | LIHC | TCGA-BC-A10T-01A | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
* 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 |
Frame-shift | ENST00000392133 | ENST00000265724 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
Frame-shift | ENST00000392133 | ENST00000543898 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
5CDS-5UTR | ENST00000392133 | ENST00000488737 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
Frame-shift | ENST00000392132 | ENST00000265724 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
Frame-shift | ENST00000392132 | ENST00000543898 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
5CDS-5UTR | ENST00000392132 | ENST00000488737 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
3UTR-3CDS | ENST00000471649 | ENST00000265724 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
3UTR-3CDS | ENST00000471649 | ENST00000543898 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
3UTR-5UTR | ENST00000471649 | ENST00000488737 | XRCC5 | chr2 | 216997110 | + | ABCB1 | chr7 | 87133765 | - |
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FusionProtFeatures for XRCC5_ABCB1 |
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Hgene | Tgene |
XRCC5 | ABCB1 |
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(PubMed:12145306, PubMed:20383123, PubMed:7957065,PubMed:8621488). The assembly of the DNA-PK complex to DNA ends isrequired for the NHEJ ligation step. In association with NAA15,the XRCC5/6 dimer binds to the osteocalcin promoter and activatesosteocalcin expression (PubMed:20383123). The XRCC5/6 dimerprobably 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. XRCC5probably acts as the catalytic subunit of 5'-dRP activity, andallows to 'clean' the termini of abasic sites, a class ofnucleotide damage commonly associated with strand breaks, beforesuch broken ends can be joined. The XRCC5/6 dimer together withAPEX1 acts as a negative regulator of transcription(PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNPcomplex, a complex that serves as a platform for IRF3phosphorylation and subsequent innate immune response activationthrough the cGAS-STING pathway. {ECO:0000269|PubMed:12145306,ECO:0000269|PubMed:20383123, ECO:0000269|PubMed:28712728,ECO:0000269|PubMed:7957065, ECO:0000269|PubMed:8621488}. | Energy-dependent efflux pump responsible for decreaseddrug accumulation in multidrug-resistant cells. |
![]() * 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 XRCC5_ABCB1 |
![]() (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 XRCC5_ABCB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
XRCC5 | XRCC6, AR, TERF2, TERF2IP, CHEK1, RBM14, NCOA6, KAT2A, VAV1, TYK2, TERT, PRKDC, POU2F1, WRN, POLA1, PCNA, TOP2A, PRIM1, POLR2E, POLR2D, ORC2, ORC1, RFC1, BIN1, APEX1, CD40, HSF1, HDLBP, DHX9, H2AFY, SIRT6, NR1H4, CHD1L, BRCA1, BARD1, ESR1, PARP1, PDX1, MSX2, RUNX2, NAA15, H2AFX, PHF1, XRCC4, LIG4, ILF2, THRA, THRB, BMI1, CHAF1A, HIST1H3E, H3F3A, TERF1, BAZ1A, SMARCA5, CHRAC1, POLE3, MYC, MME, USF1, HDAC5, RBM39, APLF, PSMA3, COIL, POLR2A, LIG3, HOXB7, YY1, VHL, RNF146, SMARCAD1, ATM, ATR, NBN, ORC3, ORC6, ORC4, TCF7L2, HDGF, CENPA, MSH6, HOXC4, MDC1, CEBPA, ARRB1, ARRB2, RAD23A, SIRT7, HNRNPA1, RNF8, HNRNPC, SUPT16H, SSRP1, TMPO, TOP1, DDX17, ERG, ISG15, TONSL, CUL3, CDK2, BAX, KCND3, GRK5, DYNC1H1, TFAP4, PAF1, PTER, YARS, PGR, XRCC5, ECT2, TP53BP1, CSNK2A1, SMURF1, FMNL1, PNKP, FN1, VCAM1, GZMA, CDH1, GZMB, NOS2, ITGA4, DCLRE1C, IGSF8, ICAM1, SOX2, HDAC6, CDC16, TARDBP, C1QBP, CUL2, CSDE1, DNMBP, EIF3J, EIF4B, GANAB, HSPA4, JUP, MSH2, NARS, NCL, PLCB3, PRMT3, RPL24, SAMHD1, SF1, TRMT1, HYOU1, RPA1, RPA2, RPA3, ATRX, ELF3, EHF, HUWE1, PPARG, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, EGFR, UBE2I, SUMO2, MAST3, WDR76, RPS6KB2, HSPB1, PHRF1, NTRK1, SCARNA22, EWSR1, SRPK2, CBL, COX6B1, DYNC1I2, ERF, NDST1, IGF2R, LIMS1, MSH5, NFIB, PCDH7, PPM1A, ABCE1, ROCK1, BRPF1, NCOA3, MPDZ, MAP3K6, GOLGA5, SNUPN, SMYD5, WWP1, ZZEF1, RTEL1, LAMTOR1, ASAP3, PEAK1, C17orf49, MITD1, MIB2, CEP128, CRY1, MACROD1, MCM2, NF2, SENP3, TFAP2A, NANOG, UHRF2, NFATC1, NFATC2, AHSA1, RNF126, USP11, DERL1, ZNF746, CDK5RAP1, SPTA1, DLD, DNM1L, HSD17B10, SOD1, VDAC1, TRIM25, EP300, UBE2S, YAP1, MTF1, DDB2, DDB1 | ABCB1 | DHX9, PIM1, LNX1, PSMB8, FBXO15, UBA7, MAPKAP1, CD4, BCCIP, MAPRE1, CUL7, LGALS3, NEDD4, NTRK1, FBXL13 |
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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 XRCC5_ABCB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ABCB1 | P08183 | DB09031 | Miltefosine | Multidrug resistance protein 1 | small molecule | approved|investigational |
Tgene | ABCB1 | P08183 | DB00778 | Roxithromycin | Multidrug resistance protein 1 | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for XRCC5_ABCB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | XRCC5 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | XRCC5 | C0678306 | alcohol sensitivity | 1 | PSYGENET |
Tgene | ABCB1 | C0011570 | Mental Depression | 5 | PSYGENET |
Tgene | ABCB1 | C0011581 | Depressive disorder | 5 | PSYGENET |
Tgene | ABCB1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
Tgene | ABCB1 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
Tgene | ABCB1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | ABCB1 | C0041755 | Adverse reaction to drug | 4 | CTD_human |
Tgene | ABCB1 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
Tgene | ABCB1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
Tgene | ABCB1 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Tgene | ABCB1 | C0014544 | Epilepsy | 2 | CTD_human |
Tgene | ABCB1 | C0027765 | nervous system disorder | 2 | CTD_human |
Tgene | ABCB1 | C0027947 | Neutropenia | 2 | CTD_human |
Tgene | ABCB1 | C0004936 | Mental disorders | 1 | CTD_human |
Tgene | ABCB1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | ABCB1 | C0014836 | Escherichia coli Infections | 1 | CTD_human |
Tgene | ABCB1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Tgene | ABCB1 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Tgene | ABCB1 | C0020651 | Hypotension, Orthostatic | 1 | CTD_human |
Tgene | ABCB1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Tgene | ABCB1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | ABCB1 | C0024809 | Marijuana Abuse | 1 | CTD_human |
Tgene | ABCB1 | C0027497 | Nausea | 1 | CTD_human |
Tgene | ABCB1 | C0027609 | Neonatal Abstinence Syndrome | 1 | PSYGENET |
Tgene | ABCB1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | ABCB1 | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | ABCB1 | C0030201 | Pain, Postoperative | 1 | CTD_human |
Tgene | ABCB1 | C0030567 | Parkinson Disease | 1 | CTD_human |
Tgene | ABCB1 | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
Tgene | ABCB1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
Tgene | ABCB1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | ABCB1 | C0040715 | Chromosomal translocation | 1 | CTD_human |
Tgene | ABCB1 | C0042963 | Vomiting | 1 | CTD_human |
Tgene | ABCB1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Tgene | ABCB1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
Tgene | ABCB1 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
Tgene | ABCB1 | C0338831 | Manic | 1 | PSYGENET |
Tgene | ABCB1 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
Tgene | ABCB1 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
Tgene | ABCB1 | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
Tgene | ABCB1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | ABCB1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Tgene | ABCB1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | ABCB1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |