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Fusion gene ID: 34811 |
FusionGeneSummary for SMARCB1_ACR |
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Fusion gene information | Fusion gene name: SMARCB1_ACR | Fusion gene ID: 34811 | Hgene | Tgene | Gene symbol | SMARCB1 | ACR | Gene ID | 6598 | 49 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | acrosin | |
Synonyms | BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS | - | |
Cytomap | 22q11.23|22q11 | 22q13.33 | |
Type of gene | protein-coding | protein-coding | |
Description | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1BRG1-associated factor 47SNF5 homologSWI/SNF-related matrix-associated proteinhSNF5integrase interactor 1 proteinmalignant rhabdoid tumor suppressorprotein | acrosinacrosin light and heavy chain prepropeptidepreproacrosinproacrosin | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q12824 | P10323 | |
Ensembl transtripts involved in fusion gene | ENST00000344921, ENST00000263121, ENST00000407422, ENST00000407082, ENST00000477836, | ENST00000216139, ENST00000529621, ENST00000527761, | |
Fusion gene scores | * DoF score | 7 X 11 X 4=308 | 1 X 1 X 1=1 |
# samples | 18 | 1 | |
** MAII score | log2(18/308*10)=-0.774933444365227 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: SMARCB1 [Title/Abstract] AND ACR [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their 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 | SMARCB1 | GO:0006337 | nucleosome disassembly | 8895581 |
Hgene | SMARCB1 | GO:0006338 | chromatin remodeling | 11726552 |
Hgene | SMARCB1 | GO:0039692 | single stranded viral RNA replication via double stranded DNA intermediate | 14963118 |
Hgene | SMARCB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11950834 |
Hgene | SMARCB1 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 11950834 |
Hgene | SMARCB1 | GO:1902661 | positive regulation of glucose mediated signaling pathway | 22368283 |
Tgene | ACR | GO:0007190 | activation of adenylate cyclase activity | 3880736 |
![]() (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 | LD | HNSC | TCGA-CV-6941-01A | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
* 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 |
Frame-shift | ENST00000344921 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000344921 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000344921 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
Frame-shift | ENST00000263121 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000263121 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000263121 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
Frame-shift | ENST00000407422 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000407422 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000407422 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
Frame-shift | ENST00000407082 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000407082 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
5CDS-intron | ENST00000407082 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
intron-3CDS | ENST00000477836 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
intron-intron | ENST00000477836 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
intron-intron | ENST00000477836 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
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FusionProtFeatures for SMARCB1_ACR |
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Hgene | Tgene |
SMARCB1 | ACR |
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles incell proliferation and differentiation, in cellular antiviralactivities and inhibition of tumor formation. The BAF complex isable to create a stable, altered form of chromatin that constrainsfewer negative supercoils than normal. This change in supercoilingwould be due to the conversion of up to one-half of thenucleosomes on polynucleosomal arrays into asymmetric structures,termed altosomes, each composed of 2 histones octamers. Stimulatesin vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involvedin activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and theneuron-specific chromatin remodeling complex (nBAF complex).During neural development a switch from a stem/progenitor to apostmitotic chromatin remodeling mechanism occurs as neurons exitthe cell cycle and become committed to their adult state. Thetransition from proliferating neural stem/progenitor cells topostmitotic neurons requires a switch in subunit composition ofthe npBAF and nBAF complexes. As neural progenitors exit mitosisand differentiate into neurons, npBAF complexes which containACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunitsin neuron-specific complexes (nBAF). The npBAF complex isessential for the self-renewal/proliferative capacity of themultipotent neural stem cells. The nBAF complex along with CRESTplays a role regulating the activity of genes essential fordendrite growth (By similarity). Plays a key role in cell-cyclecontrol and causes cell cycle arrest in G0/G1.{ECO:0000250|UniProtKB:Q9Z0H3, ECO:0000269|PubMed:10078207,ECO:0000269|PubMed:12226744, ECO:0000269|PubMed:14604992,ECO:0000269|PubMed:16267391, ECO:0000269|PubMed:16314535,ECO:0000269|PubMed:9448295}. | Acrosin is the major protease of mammalian spermatozoa.It is a serine protease of trypsin-like cleavage specificity, itis synthesized in a zymogen form, proacrosin and stored in theacrosome. |
![]() * 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 SMARCB1_ACR |
![]() (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 SMARCB1_ACR |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SMARCB1 | RELB, TACC2, SMARCA2, SMARCA4, SMARCC1, SIN3A, HDAC1, HDAC2, RBBP4, POLR2A, KLF1, GATA1, MYC, TP53, XPO1, RAN, YEATS4, MLLT10, BRCA1, SMARCB1, HSF1, SS18, ARID1A, ARID1B, SMARCC2, SMARCE1, ACTL6A, CCNE1, NCOR1, PPP1R15A, KMT2A, CREBBP, CDK8, MED21, KAT2B, PPP1CA, PPP1CB, PPP1CC, UBQLN4, ING1, MECP2, ING2, XPC, ATM, KMT2C, KMT2B, CDYL, MCPH1, BCL7C, AKT1, ACTA1, CDX2, PRMT5, SIN3B, TAF6, NR0B2, BCL2L11, SMARCD1, NONO, CARM1, EMD, DPF2, RB1CC1, RUNX1, PBRM1, ARID2, MAPK8IP2, GADD45G, CALR, TAF1D, RPS6KA5, PDPK1, MAP1LC3B, ZAK, SMARCAD1, SOX2, DPF3, CHFR, CEBPB, TFAP4, CUL3, COPS5, CAND1, APP, SMARCD2, SMARCD3, TOP2B, SAP18, EIF4A3, NCSTN, PHF10, VTN, TRA2A, SON, DPF1, EPAS1, ZDHHC17, BCL7A, BCL7B, CHMP4A, CPSF6, TBL1X, TBL1XR1, QSOX2, JUN, NFATC1, FOXN1, C1orf131, BARD1, BRCA2, ROR1, CDK9, APC, VHL, NR3C1, AR, DLST, ABI2, AES, ARL11, ATP5A1, DPH6, BHLHE40, BLZF1, FAM208B, CAMK2D, CCDC120, CCDC33, CCDC36, CD69, CDC23, CXCL11, CYB5D2, DNAJA3, FAM154A, FAM9B, GFAP, GOLGA2, HNRNPM, HOMEZ, HOOK2, HSFY1, IKZF3, KCTD9, KLC3, KPNA6, KRT15, KRT19, KRT6A, KRT6B, KRT6C, LDOC1, LENG8, LNX2, LY96, LZTS2, MBIP, MIF4GD, MXI1, NCK2, OSGIN1, OTX2, RINT1, RXRA, TEKT5, TFIP11, TNFAIP1, TNRC6A, TRIM27, TSC22D4, VIM, ZC3H11A, ZNF398 | ACR | SERPINA5, TP53BP1 |
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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 SMARCB1_ACR |
![]() (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 SMARCB1_ACR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMARCB1 | C0206743 | Rhabdoid Tumor | 2 | CTD_human |
Hgene | SMARCB1 | C3553248 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | 2 | UNIPROT |
Hgene | SMARCB1 | C0265338 | Coffin-Siris syndrome | 1 | CTD_human;ORPHANET |
Hgene | SMARCB1 | C1335929 | Schwannomatosis | 1 | CTD_human;ORPHANET |