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Fusion gene ID: 3856 |
FusionGeneSummary for BAZ1B_BCL7B |
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Fusion gene information | Fusion gene name: BAZ1B_BCL7B | Fusion gene ID: 3856 | Hgene | Tgene | Gene symbol | BAZ1B | BCL7B | Gene ID | 9031 | 9275 |
Gene name | bromodomain adjacent to zinc finger domain 1B | BCL tumor suppressor 7B | |
Synonyms | WBSCR10|WBSCR9|WSTF | - | |
Cytomap | 7q11.23 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | tyrosine-protein kinase BAZ1BhWALp2transcription factor WSTFwilliams syndrome transcription factorwilliams-Beuren syndrome chromosomal region 10 proteinwilliams-Beuren syndrome chromosomal region 9 protein | B-cell CLL/lymphoma 7 protein family member BB-cell CLL/lymphoma 7B | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9UIG0 | Q9BQE9 | |
Ensembl transtripts involved in fusion gene | ENST00000339594, ENST00000404251, | ENST00000223368, ENST00000411832, ENST00000482231, | |
Fusion gene scores | * DoF score | 8 X 9 X 6=432 | 3 X 4 X 4=48 |
# samples | 12 | 6 | |
** MAII score | log2(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 annotation | Kinase 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BAZ1B | GO:0006974 | cellular response to DNA damage stimulus | 19092802 |
Hgene | BAZ1B | GO:0016572 | histone phosphorylation | 19092802 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LIHC | TCGA-XR-A8TG-01A | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
TCGA | LD | OV | TCGA-13-0893-01B | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
TCGA | LD | UCEC | TCGA-KP-A3W1-01A | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000339594 | ENST00000223368 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
In-frame | ENST00000339594 | ENST00000411832 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
5CDS-5UTR | ENST00000339594 | ENST00000482231 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
In-frame | ENST00000404251 | ENST00000223368 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
In-frame | ENST00000404251 | ENST00000411832 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
5CDS-5UTR | ENST00000404251 | ENST00000482231 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72966572 | - |
Frame-shift | ENST00000339594 | ENST00000223368 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
Frame-shift | ENST00000339594 | ENST00000411832 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
5CDS-5UTR | ENST00000339594 | ENST00000482231 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
Frame-shift | ENST00000404251 | ENST00000223368 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
Frame-shift | ENST00000404251 | ENST00000411832 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
5CDS-5UTR | ENST00000404251 | ENST00000482231 | BAZ1B | chr7 | 72873866 | - | BCL7B | chr7 | 72966572 | - |
Frame-shift | ENST00000339594 | ENST00000223368 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
Frame-shift | ENST00000339594 | ENST00000411832 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
5CDS-5UTR | ENST00000339594 | ENST00000482231 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
Frame-shift | ENST00000404251 | ENST00000223368 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
Frame-shift | ENST00000404251 | ENST00000411832 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
5CDS-5UTR | ENST00000404251 | ENST00000482231 | BAZ1B | chr7 | 72879769 | - | BCL7B | chr7 | 72957974 | - |
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FusionProtFeatures for BAZ1B_BCL7B |
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Hgene | Tgene |
BAZ1B | BCL7B |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 533_586 | 1023 | 1852 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 768_814 | 1023 | 1852 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 850_893 | 1023 | 1852 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 533_586 | 1023 | 1484 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 768_814 | 1023 | 1484 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 850_893 | 1023 | 1484 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 306_578 | 1023 | 1852 | Compositional bias | Note=Lys-rich |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 306_578 | 1023 | 1484 | Compositional bias | Note=Lys-rich |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 20_126 | 1023 | 1852 | Domain | WAC |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 604_668 | 1023 | 1852 | Domain | DDT |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 20_126 | 1023 | 1484 | Domain | WAC |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 604_668 | 1023 | 1484 | Domain | DDT |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 207_213 | 1023 | 1852 | Motif | Note=C motif |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 207_213 | 1023 | 1484 | Motif | Note=C motif |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 1_345 | 1023 | 1852 | Region | Note=Mediates the tyrosine-protein kinase activity |
Hgene | BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 1_345 | 1023 | 1484 | Region | Note=Mediates the tyrosine-protein kinase activity |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 1245_1283 | 1023 | 1852 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 1245_1283 | 1023 | 1484 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 1261_1273 | 1023 | 1852 | Compositional bias | Note=Poly-Glu |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 1261_1273 | 1023 | 1484 | Compositional bias | Note=Poly-Glu |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 1356_1426 | 1023 | 1852 | Domain | Bromo |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 1356_1426 | 1023 | 1484 | Domain | Bromo |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000339594 | - | 11 | 20 | 1184_1234 | 1023 | 1852 | Zinc finger | PHD-type |
Hgene | >BAZ1B | chr7:72879769 | chr7:72966572 | ENST00000404251 | - | 11 | 19 | 1184_1234 | 1023 | 1484 | Zinc finger | PHD-type |
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FusionGeneSequence for BAZ1B_BCL7B |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BAZ1B | SMARCA5, 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, MTNR1A | BCL7B | TERF1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BAZ1B_BCL7B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BAZ1B_BCL7B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BAZ1B | C0175702 | Williams Syndrome | 1 | CTD_human;ORPHANET |