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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: 3857

FusionGeneSummary for BAZ1B_EDEM3

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1B_EDEM3
Fusion gene ID: 3857
HgeneTgene
Gene symbol

BAZ1B

EDEM3

Gene ID

9031

80267

Gene namebromodomain adjacent to zinc finger domain 1BER degradation enhancing alpha-mannosidase like protein 3
SynonymsWBSCR10|WBSCR9|WSTFC1orf22
Cytomap

7q11.23

1q25.3

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase BAZ1BhWALp2transcription factor WSTFwilliams syndrome transcription factorwilliams-Beuren syndrome chromosomal region 10 proteinwilliams-Beuren syndrome chromosomal region 9 proteinER degradation-enhancing alpha-mannosidase-like protein 3ER degradation enhancer, mannosidase alpha-like 3ER degradation-enhancing -mannosidase-like protein 3ER degradation-enhancing alpha-mannosidase-like 3alpha-1,2-mannosidase EDEM3
Modification date2018051920180522
UniProtAcc

Q9UIG0

Q9BZQ6

Ensembl transtripts involved in fusion geneENST00000339594, ENST00000404251, 
ENST00000318130, ENST00000367512, 
ENST00000466392, 
Fusion gene scores* DoF score8 X 9 X 6=4323 X 3 X 2=18
# samples 123
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BAZ1B [Title/Abstract] AND EDEM3 [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
HgeneBAZ1B

GO:0006974

cellular response to DNA damage stimulus

19092802

HgeneBAZ1B

GO:0016572

histone phosphorylation

19092802


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
TCGARVUCECTCGA-EY-A2OQ-01ABAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
* 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-shiftENST00000339594ENST00000318130BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
Frame-shiftENST00000339594ENST00000367512BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
5CDS-intronENST00000339594ENST00000466392BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
Frame-shiftENST00000404251ENST00000318130BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
Frame-shiftENST00000404251ENST00000367512BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-
5CDS-intronENST00000404251ENST00000466392BAZ1Bchr7

72861594

-EDEM3chr1

184706845

-

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FusionProtFeatures for BAZ1B_EDEM3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BAZ1B

Q9UIG0

EDEM3

Q9BZQ6

Atypical tyrosine-protein kinase that plays a centralrole in chromatin remodeling and acts as a transcriptionregulator. Involved in DNA damage response by phosphorylating'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph plays a centralrole in DNA repair and acts as a mark that distinguishes betweenapoptotic and repair responses to genotoxic stress. Essentialcomponent of the WICH complex, a chromatin remodeling complex thatmobilizes nucleosomes and reconfigures irregular chromatin to aregular nucleosomal array structure. The WICH complex regulatesthe transcription of various genes, has a role in RNA polymerase Iand RNA polymerase III transcription, mediates the histone H2AXphosphorylation at 'Tyr-142', and is involved in the maintenanceof chromatin structures during DNA replication processes. In thecomplex, it mediates the recruitment of the WICH complex toreplication foci during DNA replication.{ECO:0000269|PubMed:11980720, ECO:0000269|PubMed:15543136,ECO:0000269|PubMed:16603771, ECO:0000269|PubMed:19092802,ECO:0000269|PubMed:19234442}. Involved in endoplasmic reticulum-associated degradation(ERAD). Accelerates the glycoprotein ERAD by proteasomes, bycatalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in theN-glycans. Seems to have alpha 1,2-mannosidase activity (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:25092655}.

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 BAZ1B_EDEM3


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 BAZ1B_EDEM3


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
BAZ1BSMARCA5, BAZ1A, CDT1, ERCC6, SF3B1, RHD, DEK, MYBBP1A, MYO1C, PCNA, VDR, ATAD5, HDGF, SIRT7, SMARCC2, TOP2B, SMARCC1, SMARCA4, MBD3, SMARCD2, SRRM2, LMNA, HDAC11, NR4A2, HIST1H3A, CUL7, OBSL1, CCDC8, EED, RNF2, SUMO2, SCARNA22, IFI16, DAXX, HNRNPU, RPL10, ING3, EXOSC1, BMI1, ZC3HAV1, MTNR1AEDEM3FBXO6, NTRK1, LRPPRC, SEL1L, SHH, DEFA1, ANGPTL7, OS9, ALOXE3, HSPB1, STT3A, SAE1, KIAA0368, EDEM2, ERP29, MOGS, ERAP1, ERLIN2, HSPBP1, EMC1, SEC13, STT3B, ERP44, PRKCSH, RPN1, RPN2, COPB2, COPB1, DDOST, LMAN1, UBA2, HSPA1L, CDC37, TRAP1, ERGIC2, EMC2, SSR1, ERLEC1, HSPD1, ERLIN1, HSPA4L, EMC3, DNAJC10, VCPIP1, TGOLN2, MAN2A1, COPA, HSPH1, GANAB, CALR, UBA1, CANX, HSP90B1, HSPA8, HSPA5, HYOU1, NEDD4L, PDIA3, PDIA4, PSMD5, PSMD1, SERPINH1, SRPR


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 BAZ1B_EDEM3


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 BAZ1B_EDEM3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAZ1BC0175702Williams Syndrome1CTD_human;ORPHANET