Property Summary

NCBI Gene PubMed Count 53
PubMed Score 57.33
PubTator Score 49.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
osteosarcoma -1.676 1.4e-04
ependymoma -1.200 9.7e-06
glioblastoma -1.900 1.6e-04
medulloblastoma, large-cell -1.200 7.4e-05
pediatric high grade glioma -1.500 2.7e-04
group 3 medulloblastoma 1.100 1.2e-02
pilocytic astrocytoma -1.100 3.1e-04
spina bifida -1.033 3.4e-02
Pick disease 1.100 7.0e-04
progressive supranuclear palsy 1.100 9.2e-03
Breast cancer -1.300 6.7e-12
invasive ductal carcinoma -1.100 4.4e-03
ovarian cancer -1.400 3.0e-05
pituitary cancer 1.100 9.6e-07

 IMPC Phenotype (1)

Gene RIF (31)

PMID Text
26937011 This study demonstrate that ARID1B is required for neuronal differentiation in the developing brain, such as in dendritic arborization and synapse formation.
26716708 ARID1B role in genome-wide transcriptional regulation by SWI/SNF complexes.
26637798 This study provide the evidence ARID1B mutation releate to Autism Spectrum Disorder.
26395437 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
26376624 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
26340334 Chromatin-Remodeling-Factor ARID1B Represses Wnt/beta-Catenin Signaling.
26223912 Results show the crystal structure and binding site of SWI1 protein and identify loop L1 and L2 regions of SWI1 ARID likely play key roles in ARID-DNA interactions.
25817822 ARID1B potentially serves as a valuable prognostic and predictive biomarker as well as a therapeutic target in breast cancer.
25250687 The most prominent and consistent clinical findings in patients with ARID1B haploinsufficiency are developmental delay, speech impairment and intellectual disability.
25169814 Phenotype of Coffin-Siris syndrome patients with ARID1B mutations
25081545 BAF complex gene ARID1B is mutated in Coffin-Siris syndrome patients.
24788099 The BAF complex, including both ARID1A and ARID1B, contributes to DNA repair and cellular resistance to ionizing radiation and cisplatin.
24562383 loss of ARID1A and ARID1B alleles cooperatively promotes cancer formation but also results in a unique functional dependence
24382590 Mutations in ARID1B gene is associated with microsatellite unstable colorectal cancer.
24366360 Loss of ARID1B gene is associated with Waldenstrom macroglobulinemia.
23834954 associations revealed between genetic polymorphisms located in the flanking region of the ARID1B genes and hypoesthesia
23815551 SMARCB1, SMARCA4, or ARID1B were mutated in 20 out of 49 Coffin-Siris syndrome patients.
23660946 A possible tumour-suppressor function for ARID1B in pancreatic cancer.
23202128 Identification of recurrent somatic mutations in the chromatin-remodeling gene ARID1B in the childhood cancer neuroblastoma.
22426309 these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
22405089 Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID.
21801163 ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular.
21448237 For a number of genes affected by de novo copy number variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment.
20978832 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20602751 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17255939 A subset of mammalian SWI/SNF complexes, specifically including the ARID1B subunit, is required for efficient cell cycle re-entry and for the association of activating factors with the c-myc promoter.
16952470 The chromatin remodeling factor ARID1B had a very similar pattern of expression with an incremental increase in HPFH and decreased expression in deltabeta-thalassemia.
15170388 Analysis of DNA-binding behaviour indicates that ARID1B binds DNA in a non-sequence-specific manner similar to ARID1A
14633620 6A3-5 expression is associated with alpha-smooth muscle cell actin in mesangial cells, arteriolar smooth muscle cells, and interstitial myofibroblasts.could potentially be a novel early vascular marker of acute and chronic renal ischemic stress
11988099 Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.

AA Sequence

MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLK      1 - 70
TVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSL     71 - 140
GGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGT    141 - 210
QQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSM    211 - 280
DPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAA    281 - 350
GGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLN    351 - 420
QLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAW    421 - 490
AAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPI    491 - 560
GIQGRTPGAMAGMQYPQQQMPPQYGQQGVSGYCQQGQQPYYSQQPQPPHLPPQAQYLPSQSQQRYQPQQD    561 - 630
MSQEGYGTRSQPPLAPGKPNHEDLNLIQQERPSSLPDLSGSIDDLPTGTEATLSSAVSASGSTSSQGDQS    631 - 700
NPAQSPFSPHASPHLSSIPGGPSPSPVGSPVGSNQSRSGPISPASIPGSQMPPQPPGSQSESSSHPALSQ    701 - 770
SPMPQERGFMAGTQRNPQMAQYGPQQTGPSMSPHPSPGGQMHAGISSFQQSNSSGTYGPQMSQYGPQGNY    771 - 840
SRPPAYSGVPSASYSGPGPGMGISANNQMHGQGPSQPCGAVPLGRMPSAGMQNRPFPGNMSSMTPSSPGM    841 - 910
SQQGGPGMGPPMPTVNRKAQEAAAAVMQAAANSAQSRQGSFPGMNQSGLMASSSPYSQPMNNSSSLMNTQ    911 - 980
APPYSMAPAMVNSSAASVGLADMMSPGESKLPLPLKADGKEEGTPQPESKSKKSSSSTTTGEKITKVYEL    981 - 1050
GNEPERKLWVDRYLTFMEERGSPVSSLPAVGKKPLDLFRLYVCVKEIGGLAQVNKNKKWRELATNLNVGT   1051 - 1120
SSSAASSLKKQYIQYLFAFECKIERGEEPPPEVFSTGDTKKQPKLQPPSPANSGSLQGPQTPQSTGSNSM   1121 - 1190
AEVPGDLKPPTPASTPHGQMTPMQGGRSSTISVHDPFSDVSDSSFPKRNSMTPNAPYQQGMSMPDVMGRM   1191 - 1260
PYEPNKDPFGGMRKVPGSSEPFMTQGQMPNSSMQDMYNQSPSGAMSNLGMGQRQQFPYGASYDRRHEPYG   1261 - 1330
QQYPGQGPPSGQPPYGGHQPGLYPQQPNYKRHMDGMYGPPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSG   1331 - 1400
PDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNRQGPGG   1401 - 1470
PTQAPPYPGMNRTDDMMVPDQRINHESQWPSHVSQRQPYMSSSASMQPITRPPQPSYQTPPSLPNHISRA   1471 - 1540
PSPASFQRSLENRMSPSKSPFLPSMKMQKVMPTVPTSQVTGPPPQPPPIRREITFPPGSVEASQPVLKQR   1541 - 1610
RKITSKDIVTPEAWRVMMSLKSGLLAESTWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLID   1611 - 1680
IFGILMEYEVGDPSQKALDHNAARKDDSQSLADDSGKEEEDAECIDDDEEDEEDEEEDSEKTESDEKSSI   1681 - 1750
ALTAPDAAADPKEKPKQASKFDKLPIKIVKKNNLFVVDRSDKLGRVQEFNSGLLHWQLGGGDTTEHIQTH   1751 - 1820
FESKMEIPPRRRPPPPLSSAGRKKEQEGKGDSEEQQEKSIIATIDDVLSARPGALPEDANPGPQTESSKF   1821 - 1890
PFGIQQAKSHRNIKLLEDEPRSRDETPLCTIAHWQDSLAKRCICVSNIVRSLSFVPGNDAEMSKHPGLVL   1891 - 1960
ILGKLILLHHEHPERKRAPQTYEKEEDEDKGVACSKDEWWWDCLEVLRDNTLVTLANISGQLDLSAYTES   1961 - 2030
ICLPILDGLLHWMVCPSAEAQDPFPTVGPNSVLSPQRLVLETLCKLSIQDNNVDLILATPPFSRQEKFYA   2031 - 2100
TLVRYVGDRKNPVCREMSMALLSNLAQGDALAARAIAVQKGSIGNLISFLEDGVTMAQYQQSQHNLMHMQ   2101 - 2170
PPPLEPPSVDMMCRAAKALLAMARVDENRSEFLLHEGRLLDISISAVLNSLVASVICDVLFQIGQL       2171 - 2236
//

Text Mined References (64)

PMID Year Title
26937011 2016 Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons.
26716708 2015 Genome-Wide Transcriptional Regulation Mediated by Biochemically Distinct SWI/SNF Complexes.
26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
26340334 2015 Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling.
26223912 2015 Binding of human SWI1 ARID domain to DNA without sequence specificity: A molecular dynamics study.
25817822 2015 Clinicopathological significance of ARID1B in breast invasive ductal carcinoma.
25250687 2014 Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
25169814 2014 The ARID1B phenotype: what we have learned so far.
25081545 2014 Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
24788099 2014 SWI/SNF factors required for cellular resistance to DNA damage include ARID1A and ARID1B and show interdependent protein stability.
24562383 2014 ARID1B is a specific vulnerability in ARID1A-mutant cancers.
24382590 2014 Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer.
24366360 2014 The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
23834954 2013 Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.
23660946 2013 ARID1B, a member of the human SWI/SNF chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines.
23419831 2014 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
23202128 2013 Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
21448237 2011 Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21294900 2011 A genome-wide association study of serum uric acid in African Americans.
20978832 2011 Gene-environment interaction in the etiology of mathematical ability using SNP sets.
20602751 2010 Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19176441 2009 Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
18765789 2008 Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17255939 2007 Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16952470 Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15170388 2004 Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.
14982958 2004 The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14633620 2003 Ischemia induces early expression of a new transcription factor (6A3-5) in kidney vascular smooth muscle cells: studies in rat and human renal pathology.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12672490 2003 Recent advances in understanding chromatin remodeling by Swi/Snf complexes.
12665591 2003 Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12200431 2002 Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors.
11988099 2002 Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.
11734557 2002 SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones.
11078522 2000 The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes.
10574462 1999 Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10078207 1999 Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits.
9804814 1998 New 5'-(CGG)n-3' repeats in the human genome.
8896557 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.