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: 3836

FusionGeneSummary for BAP1_ZBTB1

check button Fusion gene summary
Fusion gene informationFusion gene name: BAP1_ZBTB1
Fusion gene ID: 3836
HgeneTgene
Gene symbol

BAP1

ZBTB1

Gene ID

9223

22890

Gene namemembrane associated guanylate kinase, WW and PDZ domain containing 1zinc finger and BTB domain containing 1
SynonymsAIP-3|AIP3|BAIAP1|BAP-1|BAP1|MAGI-1|Magi1d|TNRC19|WWP3ZNF909
Cytomap

3p14.1

14q23.3

Type of geneprotein-codingprotein-coding
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 zinc finger and BTB domain-containing protein 1
Modification date2018051920180519
UniProtAcc

Q92560

Q9Y2K1

Ensembl transtripts involved in fusion geneENST00000460680, ENST00000296288, 
ENST00000556818, ENST00000554015, 
ENST00000394712, ENST00000358738, 
Fusion gene scores* DoF score8 X 8 X 5=3204 X 2 X 4=32
# samples 84
** MAII scorelog2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BAP1 [Title/Abstract] AND ZBTB1 [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
TgeneZBTB1

GO:0000122

negative regulation of transcription by RNA polymerase II

20797634|21706167

TgeneZBTB1

GO:0042789

mRNA transcription by RNA polymerase II

21706167

TgeneZBTB1

GO:0051260

protein homooligomerization

20797634


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
ChiTaRS3.1BF935978BAP1chr3

52443802

+ZBTB1chr14

64982504

+
* 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-intronENST00000460680ENST00000556818BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000460680ENST00000554015BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000460680ENST00000394712BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000460680ENST00000358738BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000296288ENST00000556818BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000296288ENST00000554015BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000296288ENST00000394712BAP1chr3

52443802

+ZBTB1chr14

64982504

+
intron-intronENST00000296288ENST00000358738BAP1chr3

52443802

+ZBTB1chr14

64982504

+

Top

FusionProtFeatures for BAP1_ZBTB1


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

Q92560

ZBTB1

Q9Y2K1

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}. Acts as a transcriptional repressor (PubMed:20797634).Represses cAMP-responsive element (CRE)-mediated transcriptionalactivation (PubMed:21706167). In addition, has a role intranslesion DNA synthesis. Requires for UV-inducible RAD18loading, PCNA monoubiquitination, POLH recruitment to replicationfactories and efficient translesion DNA synthesis(PubMed:24657165). Plays a key role in the transcriptionalregulation of T lymphocyte development (By similarity).{ECO:0000250|UniProtKB:Q91VL9, ECO:0000269|PubMed:20797634,ECO:0000269|PubMed:21706167, ECO:0000269|PubMed:24657165}.

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 BAP1_ZBTB1


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 BAP1_ZBTB1


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


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 BAP1_ZBTB1


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 BAP1_ZBTB1


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