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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: 3855

FusionGeneSummary for BAZ1B_BAZ1B

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1B_BAZ1B
Fusion gene ID: 3855
HgeneTgene
Gene symbol

BAZ1B

BAZ1B

Gene ID

9031

9031

Gene namebromodomain adjacent to zinc finger domain 1Bbromodomain adjacent to zinc finger domain 1B
SynonymsWBSCR10|WBSCR9|WSTFWBSCR10|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 proteintyrosine-protein kinase BAZ1BhWALp2transcription factor WSTFwilliams syndrome transcription factorwilliams-Beuren syndrome chromosomal region 10 proteinwilliams-Beuren syndrome chromosomal region 9 protein
Modification date2018051920180519
UniProtAcc

Q9UIG0

Q9UIG0

Ensembl transtripts involved in fusion geneENST00000339594, ENST00000404251, 
ENST00000339594, ENST00000404251, 
Fusion gene scores* DoF score8 X 9 X 6=4324 X 6 X 3=72
# samples 126
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAZ1B [Title/Abstract] AND BAZ1B [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

TgeneBAZ1B

GO:0006974

cellular response to DNA damage stimulus

19092802

TgeneBAZ1B

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
ChiTaRS3.1BE813822BAZ1Bchr7

72891983

+BAZ1Bchr7

72891837

-
ChiTaRS3.1BF326857BAZ1Bchr7

72891980

+BAZ1Bchr7

72891827

-
ChiTaRS3.1AB032253BAZ1Bchr7

72856520

-BAZ1Bchr7

72855901

+
* 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-3CDSENST00000339594ENST00000339594BAZ1Bchr7

72891983

+BAZ1Bchr7

72891837

-
intron-3CDSENST00000339594ENST00000404251BAZ1Bchr7

72891983

+BAZ1Bchr7

72891837

-
intron-3CDSENST00000404251ENST00000339594BAZ1Bchr7

72891983

+BAZ1Bchr7

72891837

-
intron-3CDSENST00000404251ENST00000404251BAZ1Bchr7

72891983

+BAZ1Bchr7

72891837

-
intron-3CDSENST00000339594ENST00000339594BAZ1Bchr7

72891980

+BAZ1Bchr7

72891827

-
intron-3CDSENST00000339594ENST00000404251BAZ1Bchr7

72891980

+BAZ1Bchr7

72891827

-
intron-3CDSENST00000404251ENST00000339594BAZ1Bchr7

72891980

+BAZ1Bchr7

72891827

-
intron-3CDSENST00000404251ENST00000404251BAZ1Bchr7

72891980

+BAZ1Bchr7

72891827

-
intron-3UTRENST00000339594ENST00000339594BAZ1Bchr7

72856520

-BAZ1Bchr7

72855901

+
intron-3UTRENST00000339594ENST00000404251BAZ1Bchr7

72856520

-BAZ1Bchr7

72855901

+
intron-3UTRENST00000404251ENST00000339594BAZ1Bchr7

72856520

-BAZ1Bchr7

72855901

+
intron-3UTRENST00000404251ENST00000404251BAZ1Bchr7

72856520

-BAZ1Bchr7

72855901

+

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FusionProtFeatures for BAZ1B_BAZ1B


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

Q9UIG0

BAZ1B

Q9UIG0

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}. 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}.

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_BAZ1B


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_BAZ1B


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


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RelatedDrugs for BAZ1B_BAZ1B


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_BAZ1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAZ1BC0175702Williams Syndrome1CTD_human;ORPHANET
TgeneBAZ1BC0175702Williams Syndrome1CTD_human;ORPHANET