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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: 23533

FusionGeneSummary for NBR1_PALB2

check button Fusion gene summary
Fusion gene informationFusion gene name: NBR1_PALB2
Fusion gene ID: 23533
HgeneTgene
Gene symbol

NBR1

PALB2

Gene ID

4077

79728

Gene nameNBR1, autophagy cargo receptorpartner and localizer of BRCA2
Synonyms1A1-3B|IAI3B|M17S2|MIG19FANCN|PNCA3
Cytomap

17q21.31

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionnext to BRCA1 gene 1 proteinB-box proteincell migration-inducing gene 19 proteinmembrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)migration-inducing protein 19neighbor of BRCA1 gene 1partner and localizer of BRCA2mutant partner and localizer of BRCA2
Modification date2018052320180522
UniProtAcc

Q14596

Q86YC2

Ensembl transtripts involved in fusion geneENST00000341165, ENST00000422280, 
ENST00000542611, ENST00000590996, 
ENST00000389312, ENST00000589872, 
ENST00000261584, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: NBR1 [Title/Abstract] AND PALB2 [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
HgeneNBR1

GO:0016236

macroautophagy

19250911

HgeneNBR1

GO:0051259

protein complex oligomerization

19250911

TgenePALB2

GO:0000724

double-strand break repair via homologous recombination

19369211|19423707


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
TCGALDSKCMTCGA-ER-A19K-01ANBR1chr17

41349123

+PALB2chr16

23625412

-
* 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-shitENST00000341165ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-
Frame-shitENST00000422280ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-
Frame-shitENST00000542611ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-
Frame-shitENST00000590996ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-
Frame-shitENST00000389312ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-
Frame-shitENST00000589872ENST00000261584NBR1chr17

41349123

+PALB2chr16

23625412

-

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FusionProtFeatures for NBR1_PALB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NBR1

Q14596

PALB2

Q86YC2

Acts probably as a receptor for selective autophagosomaldegradation of ubiquitinated targets.{ECO:0000269|PubMed:19250911}. Plays a critical role in homologous recombination repair(HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks(PubMed:16793542, PubMed:19423707, PubMed:19369211,PubMed:22941656, PubMed:24141787, PubMed:28319063). Stronglystimulates the DNA strand-invasion activity of RAD51, stabilizesthe nucleoprotein filament against a disruptive BRC3-BRC4polypeptide and helps RAD51 to overcome the suppressive effect ofreplication protein A (RPA) (PubMed:20871615). Functionallycooperates with RAD51AP1 in promoting of D-loop formation by RAD51(PubMed:20871616). Serves as the molecular scaffold in theformation of the BRCA1-PALB2-BRCA2 complex which is essential forhomologous recombination (PubMed:19369211). Via its WD repeats isproposed to scaffold a HR complex containing RAD51C and BRCA2which is thought to play a role in HR-mediated DNA repair(PubMed:24141787). Essential partner of BRCA2 that promotes thelocalization and stability of BRCA2 (PubMed:16793542). Alsoenables its recombinational repair and checkpoint functions ofBRCA2 (PubMed:16793542). May act by promoting stable associationof BRCA2 with nuclear structures, allowing BRCA2 to escape theeffects of proteasome-mediated degradation (PubMed:16793542).Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures(PubMed:20871616). May play a role in the extension step afterstrand invasion at replication-dependent DNA double-strand breaks;together with BRCA2 is involved in both POLH localization atcollapsed replication forks and DNA polymerization activity(PubMed:24485656). {ECO:0000269|PubMed:16793542,ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:19423707,ECO:0000269|PubMed:20871615, ECO:0000269|PubMed:20871616,ECO:0000269|PubMed:22941656, ECO:0000269|PubMed:24141787,ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:28319063}.

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 NBR1_PALB2


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 NBR1_PALB2


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
NBR1VTA1, CIB1, FEZ1, GABARAP, GABARAPL2, CALM1, ITSN2, SQSTM1, MAP1LC3A, USP8, UBC, TTN, NBR1, GABARAPL1, MAP1LC3B, MAP1LC3C, ATXN1L, SPRED2, HTT, GSK3A, CEP55, TNK2, GSK3B, TOLLIP, SYT4, SCGN, LTBR, VAPB, MAP3K3, MAP2K4, CEP135, GTSE1, JUN, SSH3, JUNB, SPPL2B, CORO6, MRPL41, LYPD4PALB2RAD51, RAD51AP1, CAPN1, MORF4L1, BRCA2, MORF4L2, BRCA1, RBBP8, BACH1, PALB2, ALB, HNRNPC, MOV10, POLH, HIST1H3A, HIST2H2BE, PDS5B, BCAS3, CASZ1, CCL5, CST6, DIRAS3, ERRFI1, FAM84B, GREB1, IL13RA2, IL24, KLK6, LYPD3, MRC2, NAT2, PRDM14, RHOBTB2, SERPINB5, SNAI1, THRSP, HIST1H2BG, CUL3, KEAP1, USP11, USP2, ERCC5, TOP1, TOP2A, TOP3A, RAD51C, XRCC3, POLN, RNF168


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 NBR1_PALB2


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

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RelatedDiseases for NBR1_PALB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePALB2C0005586Bipolar Disorder1PSYGENET
TgenePALB2C0030297Pancreatic Neoplasm1CTD_human
TgenePALB2C0036341Schizophrenia1PSYGENET