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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: 3856

FusionGeneSummary for BAZ1B_BCL7B

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1B_BCL7B
Fusion gene ID: 3856
HgeneTgene
Gene symbol

BAZ1B

BCL7B

Gene ID

9031

9275

Gene namebromodomain adjacent to zinc finger domain 1BBCL tumor suppressor 7B
SynonymsWBSCR10|WBSCR9|WSTF-
Cytomap

7q11.23

7q11.23

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 proteinB-cell CLL/lymphoma 7 protein family member BB-cell CLL/lymphoma 7B
Modification date2018051920180519
UniProtAcc

Q9UIG0

Q9BQE9

Ensembl transtripts involved in fusion geneENST00000339594, ENST00000404251, 
ENST00000223368, ENST00000411832, 
ENST00000482231, 
Fusion gene scores* DoF score8 X 9 X 6=4323 X 4 X 4=48
# samples 126
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BAZ1B [Title/Abstract] AND BCL7B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationKinase involved fusion gene, inframe and retained kinase domain.
Transcription factor involved fusion gene, inframe and retained DNA-binding domain.
* 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
TCGARVLIHCTCGA-XR-A8TG-01ABAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
TCGALDOVTCGA-13-0893-01BBAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
TCGALDUCECTCGA-KP-A3W1-01ABAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
* 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
In-frameENST00000339594ENST00000223368BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
In-frameENST00000339594ENST00000411832BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
5CDS-5UTRENST00000339594ENST00000482231BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
In-frameENST00000404251ENST00000223368BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
In-frameENST00000404251ENST00000411832BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
5CDS-5UTRENST00000404251ENST00000482231BAZ1Bchr7

72879769

-BCL7Bchr7

72966572

-
Frame-shiftENST00000339594ENST00000223368BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
Frame-shiftENST00000339594ENST00000411832BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
5CDS-5UTRENST00000339594ENST00000482231BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
Frame-shiftENST00000404251ENST00000223368BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
Frame-shiftENST00000404251ENST00000411832BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
5CDS-5UTRENST00000404251ENST00000482231BAZ1Bchr7

72873866

-BCL7Bchr7

72966572

-
Frame-shiftENST00000339594ENST00000223368BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
Frame-shiftENST00000339594ENST00000411832BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
5CDS-5UTRENST00000339594ENST00000482231BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
Frame-shiftENST00000404251ENST00000223368BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
Frame-shiftENST00000404251ENST00000411832BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-
5CDS-5UTRENST00000404251ENST00000482231BAZ1Bchr7

72879769

-BCL7Bchr7

72957974

-

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FusionProtFeatures for BAZ1B_BCL7B


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

Q9UIG0

BCL7B

Q9BQE9

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}. Positive regulator of apoptosis. Plays a role in the Wntsignaling pathway, negatively regulating the expression of Wntsignaling components CTNNB1 and HMGA1 (PubMed:25569233). Involvedin cell cycle progression, maintenance of the nuclear structureand stem cell differentiation (PubMed:25569233). May play a rolein lung tumor development or progression (By similarity).{ECO:0000250|UniProtKB:Q921K9, ECO:0000269|PubMed:25569233}.

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
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120533_58610231852Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120768_81410231852Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120850_89310231852Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119533_58610231484Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119768_81410231484Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119850_89310231484Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120306_57810231852Compositional biasNote=Lys-rich
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119306_57810231484Compositional biasNote=Lys-rich
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-112020_12610231852DomainWAC
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120604_66810231852DomainDDT
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-111920_12610231484DomainWAC
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119604_66810231484DomainDDT
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-1120207_21310231852MotifNote=C motif
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-1119207_21310231484MotifNote=C motif
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-11201_34510231852RegionNote=Mediates the tyrosine-protein kinase activity
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-11191_34510231484RegionNote=Mediates the tyrosine-protein kinase activity

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-11201245_128310231852Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-11191245_128310231484Coiled coilOntology_term=ECO:0000255
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-11201261_127310231852Compositional biasNote=Poly-Glu
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-11191261_127310231484Compositional biasNote=Poly-Glu
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-11201356_142610231852DomainBromo
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-11191356_142610231484DomainBromo
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000339594-11201184_123410231852Zinc fingerPHD-type
HgeneBAZ1Bchr7:72879769chr7:72966572ENST00000404251-11191184_123410231484Zinc fingerPHD-type


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FusionGeneSequence for BAZ1B_BCL7B


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_BCL7B


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, MTNR1ABCL7BTERF1, TERF2IP, MAGEA6, FMR1, DPF3, NUP50, DPF2, SMARCE1, SS18, SMARCD1, ARID1A, ARID1B, SMARCA2, SMARCB1, SMARCD3, SMARCA4, SMARCD2, CSNK2A2, PPIA, NIPSNAP1, RACGAP1, TMEM248, NLRP2, ATL2, PAPD5, WDR62, SMARCC2, BCL7C, ACTBL2, 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


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RelatedDrugs for BAZ1B_BCL7B


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_BCL7B


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