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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: 3830

FusionGeneSummary for BAP1_IGHJ3

check button Fusion gene summary
Fusion gene informationFusion gene name: BAP1_IGHJ3
Fusion gene ID: 3830
HgeneTgene
Gene symbol

BAP1

IGHJ3

Gene ID

9223

28479

Gene namemembrane associated guanylate kinase, WW and PDZ domain containing 1immunoglobulin heavy joining 3
SynonymsAIP-3|AIP3|BAIAP1|BAP-1|BAP1|MAGI-1|Magi1d|TNRC19|WWP3JH3b
Cytomap

3p14.1

14q32.33

Type of geneprotein-codingother
Descriptionmembrane-associated guanylate kinase, WW and PDZ domain-containing protein 1BAI1-associated protein 1WW domain-containing protein 3atrophin-1-interacting protein 3membrane-associated guanylate kinase inverted 1trinucleotide repeat-containing gene 19 -
Modification date2018051920180329
UniProtAcc

Q92560

Ensembl transtripts involved in fusion geneENST00000460680, ENST00000296288, 
ENST00000463911, 
Fusion gene scores* DoF score8 X 8 X 5=3201 X 1 X 1=1
# samples 81
** MAII scorelog2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: BAP1 [Title/Abstract] AND IGHJ3 [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

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
TCGALDLUSCTCGA-66-2788-01ABAP1chr3

52443953

-IGHJ3chr14

106330840

-
* 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
intron-3CDSENST00000460680ENST00000463911BAP1chr3

52443953

-IGHJ3chr14

106330840

-
intron-3CDSENST00000296288ENST00000463911BAP1chr3

52443953

-IGHJ3chr14

106330840

-

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FusionProtFeatures for BAP1_IGHJ3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BAP1

Q92560

IGHJ3

Deubiquitinating enzyme that plays a key role inchromatin by mediating deubiquitination of histone H2A and HCFC1.Catalytic component of the PR-DUB complex, a complex thatspecifically mediates deubiquitination of histone H2Amonoubiquitinated at 'Lys-119' (H2AK119ub1). Does notdeubiquitinate monoubiquitinated histone H2B. Acts as a regulatorof cell growth by mediating deubiquitination of HCFC1 N-terminaland C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linkedpolyubiquitin chains. Deubiquitination of HCFC1 does not lead toincrease stability of HCFC1. Interferes with the BRCA1 and BARD1heterodimer activity by inhibiting their ability to mediateubiquitination and autoubiquitination. It however does not mediatedeubiquitination of BRCA1 and BARD1. Able to mediateautodeubiquitination via intramolecular interactions to couteractmonoubiquitination at the nuclear localization signal (NLS),thereby protecting it from cytoplasmic sequestration(PubMed:24703950). Acts as a tumor suppressor.{ECO:0000269|PubMed:12485996, ECO:0000269|PubMed:18757409,ECO:0000269|PubMed:19117993, ECO:0000269|PubMed:19188440,ECO:0000269|PubMed:19815555, ECO:0000269|PubMed:20436459,ECO:0000269|PubMed:24703950, ECO:0000269|PubMed:9528852}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 BAP1_IGHJ3


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 BAP1_IGHJ3


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
BAP1HCFC1, FOXK2, IPO5, PPM1G, RBBP7, OGT, HAT1, EIF4EBP3, PSME3, CBX1, CBX3, AHCYL2, ANKRD17, ANAPC7, ASXL2, UBE2O, IPO4, ASXL1, KDM1B, FOXK1, HSPA2, PTEN, HIST2H2AC, ZC3H13, PRDM10, HSPA9, ZNF131, HSPA1A, EFNA2, ELF2, YY1, BRCA1, TRIM63, USP21, USP15, USP28, USP2, HIST2H2AA3, INO80, UBC, MAP3K1, BAG4, BCAR3, CASP8, ESR1, IGF1R, NBN, PTPRJ, RB1CC1, XRCC3, SMS, TSNAX, KIAA1107, ENTHD2, MCRS1, ASXL3, HIST1H2AB, KLF5, GOPC, CAMK2D, LINC00598IGHJ3


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 BAP1_IGHJ3


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 BAP1_IGHJ3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAP1C0007134Renal Cell Carcinoma4CTD_human
HgeneBAP1C0025500Mesothelioma4CTD_human
HgeneBAP1C0345967Malignant mesothelioma4CTD_human
HgeneBAP1C0220633Uveal melanoma3CTD_human;HPO
HgeneBAP1C0038356Stomach Neoplasms2CTD_human
HgeneBAP1C0151779Cutaneous Melanoma2CTD_human
HgeneBAP1C0206698Cholangiocarcinoma2CTD_human
HgeneBAP1C1458155Mammary Neoplasms2CTD_human
HgeneBAP1C0005695Bladder Neoplasm1CTD_human
HgeneBAP1C0005967Bone neoplasms1CTD_human
HgeneBAP1C0007117Basal cell carcinoma1CTD_human
HgeneBAP1C0009375Colonic Neoplasms1CTD_human
HgeneBAP1C0018671Head and Neck Neoplasms1CTD_human
HgeneBAP1C0022665Kidney Neoplasm1CTD_human
HgeneBAP1C0023418leukemia1CTD_human
HgeneBAP1C0023798Lipoma1CTD_human
HgeneBAP1C0023903Liver neoplasms1CTD_human
HgeneBAP1C0024121Lung Neoplasms1CTD_human
HgeneBAP1C0025286Meningioma1CTD_human;HPO
HgeneBAP1C0030297Pancreatic Neoplasm1CTD_human
HgeneBAP1C0030421Paraganglioma1CTD_human
HgeneBAP1C0033578Prostatic Neoplasms1CTD_human
HgeneBAP1C0039590Testicular Neoplasms1CTD_human
HgeneBAP1C0040100Thymoma1CTD_human
HgeneBAP1C0042138Uterine Neoplasms1CTD_human
HgeneBAP1C0085136Central Nervous System Neoplasms1CTD_human
HgeneBAP1C0152013Adenocarcinoma of lung (disorder)1CTD_human;HPO
HgeneBAP1C0206686Adrenocortical carcinoma1CTD_human
HgeneBAP1C0206694Mucoepidermoid Carcinoma1CTD_human
HgeneBAP1C0206739Epithelioid and spindle cell nevus1CTD_human
HgeneBAP1C0206754Neuroendocrine Tumors1CTD_human
HgeneBAP1C0206769Nevi and Melanomas1CTD_human
HgeneBAP1C0919267ovarian neoplasm1CTD_human
HgeneBAP1C2931822Nasopharyngeal carcinoma1CTD_human