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: 4441

FusionGeneSummary for BRIP1_CUEDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: BRIP1_CUEDC1
Fusion gene ID: 4441
HgeneTgene
Gene symbol

BRIP1

CUEDC1

Gene ID

83990

404093

Gene nameBRCA1 interacting protein C-terminal helicase 1CUE domain containing 1
SynonymsBACH1|FANCJ|OF-
Cytomap

17q23.2

17q22

Type of geneprotein-codingprotein-coding
DescriptionFanconi anemia group J proteinATP-dependent RNA helicase BRIP1BRCA1-associated C-terminal helicase 1BRCA1-binding helicase-like protein BACH1BRCA1/BRCA2-associated helicase 1CUE domain-containing protein 1
Modification date2018052320180519
UniProtAcc

Q9BX63

Q9NWM3

Ensembl transtripts involved in fusion geneENST00000259008, ENST00000577598, 
ENST00000583837, 
ENST00000577830, 
ENST00000407144, ENST00000360238, 
ENST00000577840, ENST00000578357, 
Fusion gene scores* DoF score3 X 3 X 1=95 X 4 X 4=80
# samples 36
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRIP1 [Title/Abstract] AND CUEDC1 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBRIP1

GO:0006357

regulation of transcription by RNA polymerase II

14504288


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
TCGARVBRCATCGA-C8-A275-01ABRIP1chr17

59853762

-CUEDC1chr17

55963240

-
* 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
5CDS-5UTRENST00000259008ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000259008ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000577598ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000577598ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-5UTRENST00000583837ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-5UTRENST00000583837ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-

Top

FusionProtFeatures for BRIP1_CUEDC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BRIP1

Q9BX63

CUEDC1

Q9NWM3

DNA-dependent ATPase and 5' to 3' DNA helicase requiredfor the maintenance of chromosomal stability. Acts late in theFanconi anemia pathway, after FANCD2 ubiquitination. Involved inthe repair of DNA double-strand breaks by homologous recombinationin a manner that depends on its association with BRCA1.{ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014,ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896}.

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 BRIP1_CUEDC1


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 BRIP1_CUEDC1


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
BRIP1BRCA1, MLH1, PMS1, PMS2, BLM, TOPBP1, RPA1, BARD1, MMS19, LMNA, HNRNPC, FHL3, POMK, GFOD1, C9orf41, LIPH, VAPB, USP37, CBX3, HIST1H3A, IL17RA, LYPD4, NCAPH2, TULP2, CRTAC1, PDDC1, DOCK5, AVIL, RAD51D, VWA5A, CRYL1, MSH2, FANCD2, BRIP1, MRE11A, RAD50, NBN, SPTA1, POLNCUEDC1IKBKG, NEDD4, NEDD4L, SMURF2, MAP3K1, DUSP19, OIP5, TMEM51, SRPRB, NFKBIA, FAM189A2, ZNF114, ARRDC1, TMEM92, LDLRAD4, SMURF1, TOM1L2, FAM189B, MYO6, TRIM5, ARRDC3, RPL15, MRPL38, TMEM52B, DUSP22, UBC, WBP2, TRIM25


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 BRIP1_CUEDC1


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 BRIP1_CUEDC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRIP1C1836860FANCONI ANEMIA, COMPLEMENTATION GROUP J3CTD_human;UNIPROT
HgeneBRIP1C0006142Malignant neoplasm of breast2UNIPROT
HgeneBRIP1C0015625Fanconi Anemia1CTD_human;ORPHANET
HgeneBRIP1C0919267ovarian neoplasm1CTD_human