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Fusion gene ID: 3858 |
FusionGeneSummary for BAZ1B_FNIP2 |
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Fusion gene information | Fusion gene name: BAZ1B_FNIP2 | Fusion gene ID: 3858 | Hgene | Tgene | Gene symbol | BAZ1B | FNIP2 | Gene ID | 9031 | 57600 |
Gene name | bromodomain adjacent to zinc finger domain 1B | folliculin interacting protein 2 | |
Synonyms | WBSCR10|WBSCR9|WSTF | FNIPL|MAPO1 | |
Cytomap | 7q11.23 | 4q32.1 | |
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 | folliculin-interacting protein 2FNIP1-like proteinO6-methylguanine-induced apoptosis 1 protein | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9UIG0 | Q9P278 | |
Ensembl transtripts involved in fusion gene | ENST00000339594, ENST00000404251, | ENST00000264433, ENST00000379346, ENST00000505445, | |
Fusion gene scores | * DoF score | 8 X 9 X 6=432 | 4 X 4 X 2=32 |
# samples | 12 | 4 | |
** MAII score | log2(12/432*10)=-1.84799690655495 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: BAZ1B [Title/Abstract] AND FNIP2 [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) |
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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 |
Tgene | FNIP2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 21209915 |
Tgene | FNIP2 | GO:0001932 | regulation of protein phosphorylation | 18663353 |
Tgene | FNIP2 | GO:0006468 | protein phosphorylation | 18663353 |
Tgene | FNIP2 | GO:0031334 | positive regulation of protein complex assembly | 25126726 |
Tgene | FNIP2 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19914239 |
![]() (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 |
ChiTaRS3.1 | BE771024 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
* 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 |
intron-intron | ENST00000339594 | ENST00000264433 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
intron-intron | ENST00000339594 | ENST00000379346 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
intron-intron | ENST00000339594 | ENST00000505445 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
intron-intron | ENST00000404251 | ENST00000264433 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
intron-intron | ENST00000404251 | ENST00000379346 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
intron-intron | ENST00000404251 | ENST00000505445 | BAZ1B | chr7 | 72891663 | + | FNIP2 | chr4 | 159707199 | + |
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FusionProtFeatures for BAZ1B_FNIP2 |
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Hgene | Tgene |
BAZ1B | FNIP2 |
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}. | Acts as a co-chaperone of HSP90AA1. Inhibits the ATPaseactivity of HSP90AA1 leading to reduction in its chaperoneactivity. Facilitates the binding of client protein FLCN toHSP90AA1 (PubMed:27353360). May play a role in the signaltransduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energyand/or nutrient sensing through the AMPK and mTOR signalingpathways (PubMed:18403135). May regulate phosphorylation ofRPS6KB1 (PubMed:18663353). {ECO:0000250|UniProtKB:Q80TD3,ECO:0000269|PubMed:18403135, ECO:0000269|PubMed:18663353,ECO:0000269|PubMed:27353360}. |
![]() * 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 |
- 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 |
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FusionGeneSequence for BAZ1B_FNIP2 |
![]() (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_FNIP2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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_FNIP2 |
![]() (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_FNIP2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BAZ1B | C0175702 | Williams Syndrome | 1 | CTD_human;ORPHANET |