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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 42220

FusionGeneSummary for XRCC5_ABCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: XRCC5_ABCB1
Fusion gene ID: 42220
HgeneTgene
Gene symbol

XRCC5

ABCB1

Gene ID

7520

5243

Gene nameX-ray repair cross complementing 5ATP binding cassette subfamily B member 1
SynonymsKARP-1|KARP1|KU80|KUB2|Ku86|NFIVABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1
Cytomap

2q35

7q21.12

Type of geneprotein-codingprotein-coding
DescriptionX-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, 80kDaKumultidrug resistance protein 1ATP-binding cassette, sub-family B (MDR/TAP), member 1P glycoproteinP-glycoprotein 1colchicin sensitivitydoxorubicin resistance
Modification date2018052320180527
UniProtAcc

P13010

P08183

Ensembl transtripts involved in fusion geneENST00000392133, ENST00000392132, 
ENST00000471649, 		ENST00000265724, 
ENST00000543898, ENST00000488737, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 3=48
# samples 34
** MAII scorelog2(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 annotationTumor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneXRCC5

GO:0002218

activation of innate immune response

28712728

HgeneXRCC5

GO:0006303

double-strand break repair via nonhomologous end joining

26359349

HgeneXRCC5

GO:0045860

positive regulation of protein kinase activity

22504299

HgeneXRCC5

GO:0071480

cellular response to gamma radiation

26359349

TgeneABCB1

GO:0000086

G2/M transition of mitotic cell cycle

19384922

TgeneABCB1

GO:0045332

phospholipid translocation

8898203

TgeneABCB1

GO:0099040

ceramide translocation

8898203


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
TCGARVLIHCTCGA-BC-A10T-01AXRCC5chr2

216997110

+ABCB1chr7

87133765

-
* 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-shiftENST00000392133ENST00000265724XRCC5chr2

216997110

+ABCB1chr7

87133765

-
Frame-shiftENST00000392133ENST00000543898XRCC5chr2

216997110

+ABCB1chr7

87133765

-
5CDS-5UTRENST00000392133ENST00000488737XRCC5chr2

216997110

+ABCB1chr7

87133765

-
Frame-shiftENST00000392132ENST00000265724XRCC5chr2

216997110

+ABCB1chr7

87133765

-
Frame-shiftENST00000392132ENST00000543898XRCC5chr2

216997110

+ABCB1chr7

87133765

-
5CDS-5UTRENST00000392132ENST00000488737XRCC5chr2

216997110

+ABCB1chr7

87133765

-
3UTR-3CDSENST00000471649ENST00000265724XRCC5chr2

216997110

+ABCB1chr7

87133765

-
3UTR-3CDSENST00000471649ENST00000543898XRCC5chr2

216997110

+ABCB1chr7

87133765

-
3UTR-5UTRENST00000471649ENST00000488737XRCC5chr2

216997110

+ABCB1chr7

87133765

-

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FusionProtFeatures for XRCC5_ABCB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XRCC5

P13010

ABCB1

P08183

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.

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


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FusionGeneSequence for XRCC5_ABCB1


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).

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FusionGenePPI for XRCC5_ABCB1


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
XRCC5XRCC6, 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, DDB1ABCB1DHX9, PIM1, LNX1, PSMB8, FBXO15, UBA7, MAPKAP1, CD4, BCCIP, MAPRE1, CUL7, LGALS3, NEDD4, NTRK1, FBXL13


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


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RelatedDrugs for XRCC5_ABCB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneABCB1P08183DB09031MiltefosineMultidrug resistance protein 1small moleculeapproved|investigational
TgeneABCB1P08183DB00778RoxithromycinMultidrug resistance protein 1small moleculeapproved|investigational|withdrawn

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RelatedDiseases for XRCC5_ABCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneXRCC5C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneXRCC5C0678306alcohol sensitivity1PSYGENET
TgeneABCB1C0011570Mental Depression5PSYGENET
TgeneABCB1C0011581Depressive disorder5PSYGENET
TgeneABCB1C0041696Unipolar Depression5PSYGENET
TgeneABCB1C1269683Major Depressive Disorder5PSYGENET
TgeneABCB1C0036341Schizophrenia4PSYGENET
TgeneABCB1C0041755Adverse reaction to drug4CTD_human
TgeneABCB1C0003873Rheumatoid Arthritis2CTD_human
TgeneABCB1C0005586Bipolar Disorder2PSYGENET
TgeneABCB1C0009404Colorectal Neoplasms2CTD_human
TgeneABCB1C0014544Epilepsy2CTD_human
TgeneABCB1C0027765nervous system disorder2CTD_human
TgeneABCB1C0027947Neutropenia2CTD_human
TgeneABCB1C0004936Mental disorders1CTD_human
TgeneABCB1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneABCB1C0014836Escherichia coli Infections1CTD_human
TgeneABCB1C0014859Esophageal Neoplasms1CTD_human
TgeneABCB1C0018798Congenital Heart Defects1CTD_human
TgeneABCB1C0020651Hypotension, Orthostatic1CTD_human
TgeneABCB1C0022665Kidney Neoplasm1CTD_human
TgeneABCB1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneABCB1C0024809Marijuana Abuse1CTD_human
TgeneABCB1C0027497Nausea1CTD_human
TgeneABCB1C0027609Neonatal Abstinence Syndrome1PSYGENET
TgeneABCB1C0027627Neoplasm Metastasis1CTD_human
TgeneABCB1C0027819Neuroblastoma1CTD_human
TgeneABCB1C0030201Pain, Postoperative1CTD_human
TgeneABCB1C0030567Parkinson Disease1CTD_human
TgeneABCB1C0030569Secondary Parkinson Disease1CTD_human
TgeneABCB1C0031117Peripheral Neuropathy1CTD_human
TgeneABCB1C0033975Psychotic Disorders1PSYGENET
TgeneABCB1C0040715Chromosomal translocation1CTD_human
TgeneABCB1C0042963Vomiting1CTD_human
TgeneABCB1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneABCB1C0206686Adrenocortical carcinoma1CTD_human
TgeneABCB1C0235032Neurotoxicity Syndromes1CTD_human
TgeneABCB1C0338831Manic1PSYGENET
TgeneABCB1C0376545Hematologic Neoplasms1CTD_human
TgeneABCB1C0993582Arthritis, Experimental1CTD_human
TgeneABCB1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneABCB1C1458155Mammary Neoplasms1CTD_human
TgeneABCB1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneABCB1C2239176Liver carcinoma1CTD_human
TgeneABCB1C4277682Chemical and Drug Induced Liver Injury1CTD_human