Gene | Associated with RHABDOID TUMOR PREDISPOSITION SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
SMARCB1 | ClinVar, OMIM | HGNC link | 22q11.23 | 4 | PS156200, PS609322, PS135900, PS162091 |
SMARCA4 | ClinVar, OMIM | HGNC link | 19p13.2 | 3 | PS156200, PS135900, PS609322 |
Download the disease annotation in CSV format
TF | associated to this disease | # regulated genes | Regulated genes | # regulated genes associated with this disease | Regulated genes associated with this disease |
---|---|---|---|---|---|
SMARCB1 | YES | 2 | CD44, CDKN2A | 0 | |
SMARCA4 | YES | 9 | CDKN1A, CCND1, CDH1, CD44, CAD, MECOM, CDKN2A, FOS, ABCG2 | 0 |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
SMARCB1 | YES | 1 | PARP1 | 0 | |
CDKN2A | NO | 24 | FOXM1, EAPP, ETS2, EZH2, DNMT3A, HDAC9, ZBTB7A, SP1, HDAC3, MTA1, DNMT1, TBX2, E2F1, SMARCB1, TBX3, ZNF148, HDAC1, HDAC4, ETS1, SMARCA1, TBX5, SMARCA4, SP3, JUNB | 2 | SMARCB1, SMARCA4 |
CD44 | NO | 12 | SP1, SMARCA1, TWIST2, SMARCA4, HDAC1, SNAI2, TWIST1, IKBKB, HMGA1, CTNNB1, SMARCB1, MYCN | 2 | SMARCB1, SMARCA4 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
SMARCB1 | SMARCA4 | Yes | 56 | CHFR, KLF1, TP53, RPS6KA5, SS18, DPF2, SMARCAD1, TAT, HDAC1, ARID1A, NCOR1, SMARCD2, CARM1, DPF3, ARID1B, RUNX1, TOP2B, PBRM1, MCPH1, NONO, SMARCE1, CDK8, SMARCC2, COPS5, RELB, CDYL, BRCA1, ACTL6A, PHF10, SMARCD3, BCL7B, DPF1, HSF1, PRMT5, SMARCB1, SIN3A, BCL7C, NFATC1, GATA1, EPAS1, CCNE1, ARID2, SMARCD1, SMARCC1, SMARCA2, BCL7A, HDAC2, CAND1, CEBPB, POLR2A, SIN3B, CDX2, MYC, RBBP4, CUL3, ING1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Interaction mode | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
SMARCB1 | SMARCA4 | Yes | activation, binding | 63 | KAT2B, KAT2A, IRF5, GTF2B, SMARCC2, KLF1, IRF2, TP53, GTF2A1, GTF3A, ARID1A, XPC, PHF7, YEATS4, SMARCD2, RAD52, ESR2, DPF3, CCND1, PBRM1, POLR2A, IRF7, SMARCE1, ZNF14, DPF1, BRCA1, ACTL6A, PHF10, SMARCC1, CDKN1A, IFNB1, SMARCD3, GTF2E1, ACTL6B, HDAC1, SIN3A, SMARCA2, ATF2, UBC, JUN, ARID1B, RELA, ASH1L, ARID2, MYC, SMARCD1, SMARCA1, CREBBP, HMGB1, IRF4, NR3C1, RBBP4, IRF6, HDAC2, MYSM1, CEBPB, RB1, GTF2F1, PHF11, JUNB, MLLT1, IRF1, IRF3 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Complexes | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
SMARCB1 | SMARCA4 | Yes | SWI-SNF chromatin remodeling-related-BRCA1 complex;EBAFa complex;PBAF complex (Polybromo- and BAF containing complex);NUMAC complex (nucleosomal methylation activator complex);SIN3-ING1b complex II;WINAC complex;ETS2-SMARCA4-INI1 complex;EBAFb complex;RNA polymerase II complex, chromatin structure modifying;Brg1-associated complex I;BRG1-associated complex;Brg1-associated complex II;BRG1-SIN3A complex;NCOR1 complex;BAF complex;p300-CBP-p270-SWI/SNF complex;BRG1-SIN3A-HDAC containing SWI/SNF remodeling complex I;LARC complex (LCR-associated remodeling complex) | 64 | KAT2B, HNRNPC, MBD2, GTF2B, RBBP4, TBP, HDAC2, ACTL6A, TRIM28, ETS2, ING1, PRMT5, RBBP7, ARID1A, NCOR1, SMARCD2, CARM1, CCNC, ARID2, GTF2H1, PBRM1, SMARCC2, DPF2, SMARCE1, CDK8, HDAC3, TOP2B, CHAF1A, BAZ1B, BRCA1, HDAC1, GTF2F1, MBD3, ACTL6B, SMARCD3, ARID1B, GTF2E1, VDR, SIN3A, CHD4, ACTG1, ARID4B, SUPT16H, DRAP1, SAP30, MTA2, ERCC3, SRCAP, SF3B3, SMARCC1, SMARCA2, EP300, POLR2A, SF3A1, SMARCD1, CREBBP, SCYL1, ACTB, GATAD2B, MED21, PCSK4, SAP18, MLLT1, GTF2H3 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
SMARCB1 | SMARCA4 | Yes | 11 | SMARCC1, SMARCE1, SMARCA2, SMARCD1, TOP2B, SMARCD2, SMARCC2, PHF10, SMARCD3, ARID1A, ARID1B |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Systemic lupus erythematosus (hsa05322) | NEW | 5.95 | 0.029 | SMARCB1, SMARCA4 |
Natural killer cell mediated cytotoxicity (hsa04650) | NEW | 5.53 | 0.048 | SMARCB1, SMARCA4 |
Antigen processing and presentation (hsa04612) | NEW | 6.04 | 0.015 | SMARCB1, SMARCA4 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
RMTs methylate histone arginines | R-HSA-3214858 | 7.49 | 2 | SMARCB1, SMARCA4 |
Chromatin organization | R-HSA-4839726 | 5.19 | 2 | SMARCB1, SMARCA4 |
Chromatin modifying enzymes | R-HSA-3247509 | 5.19 | 2 | SMARCB1, SMARCA4 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Circadian Clock (R-HSA-400253) | NEW | 7.03 | 0.011 | SMARCB1, SMARCA4 |
Mitochondrial biogenesis (R-HSA-1592230) | NEW | 7.34 | 0.01 | SMARCB1, SMARCA4 |
Chromatin organization (R-HSA-4839726) | - | 5.19 | 0.006 | SMARCB1, SMARCA4 |
RMTs methylate histone arginines (R-HSA-3214858) | - | 7.49 | 0.0 | SMARCB1, SMARCA4 |
Chromatin modifying enzymes (R-HSA-3247509) | - | 5.19 | 0.006 | SMARCB1, SMARCA4 |
Mitotic Prophase (R-HSA-68875) | NEW | 6.27 | 0.022 | SMARCB1, SMARCA4 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Tat protein binding (GO:0030957) | - | 7.66 | 0.0 | SMARCB1, SMARCA4 |
transcription factor binding (GO:0008134) | - | 3.46 | 0.035 | SMARCB1, SMARCA4 |
transcription coactivator activity (GO:0003713) | - | 4.04 | 0.013 | SMARCB1, SMARCA4 |
transcription cofactor activity (GO:0003712) | - | 3.44 | 0.043 | SMARCB1, SMARCA4 |
transcription factor binding transcription factor activity (GO:0000989) | - | 3.36 | 0.048 | SMARCB1, SMARCA4 |
protein binding transcription factor activity (GO:0000988) | - | 3.35 | 0.049 | SMARCB1, SMARCA4 |
p53 binding (GO:0002039) | - | 5.53 | 0.006 | SMARCB1, SMARCA4 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
SWI/SNF superfamily-type complex (GO:0070603) | - | 5.5 | 0.0 | SMARCB1, SMARCA4 |
protein-DNA complex (GO:0032993) | NEW | 5.03 | 0.031 | SMARCB1, SMARCA4 |
nuclear chromosome part (GO:0044454) | - | 3.67 | 0.01 | SMARCB1, SMARCA4 |
nuclear chromatin (GO:0000790) | - | 4.42 | 0.048 | SMARCB1, SMARCA4 |
nBAF complex (GO:0071565) | - | 7.16 | 0.0 | SMARCB1, SMARCA4 |
npBAF complex (GO:0071564) | - | 7.32 | 0.0 | SMARCB1, SMARCA4 |
SWI/SNF complex (GO:0016514) | - | 7.09 | 0.0 | SMARCB1, SMARCA4 |
chromatin (GO:0000785) | - | 3.99 | 0.008 | SMARCB1, SMARCA4 |
BAF-type complex (GO:0090544) | - | 6.67 | 0.0 | SMARCB1, SMARCA4 |
chromosomal part (GO:0044427) | - | 3.18 | 0.041 | SMARCB1, SMARCA4 |
chromosome (GO:0005694) | NEW | 3.78 | 0.04 | SMARCB1, SMARCA4 |