Property Summary

NCBI Gene PubMed Count 53
PubMed Score 57.33
PubTator Score 49.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
Breast cancer 3099 6.70827536916944E-12
pituitary cancer 1972 9.55361528840898E-7
ependymoma 2514 9.65404484248402E-6
ovarian cancer 8492 2.95136195442197E-5
medulloblastoma, large-cell 6234 7.44060324985466E-5
osteosarcoma 7933 1.40977666563944E-4
glioblastoma 5572 1.6046317896083E-4
pediatric high grade glioma 2712 2.68201853441313E-4
pilocytic astrocytoma 3086 3.08389369840996E-4
Pick disease 1893 7.00685897468941E-4
invasive ductal carcinoma 2950 0.00443412045039557
progressive supranuclear palsy 674 0.00916094515077942
group 3 medulloblastoma 2254 0.0115335766578741
spina bifida 1064 0.0341669696973994
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Alzheimer's disease 644 0.0 1.0
Gout 93 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 4.553 2.3

Expression

  Differential Expression (14)

Disease log2 FC p
osteosarcoma -1.676 0.000
ependymoma -1.200 0.000
glioblastoma -1.900 0.000
medulloblastoma, large-cell -1.200 0.000
pediatric high grade glioma -1.500 0.000
group 3 medulloblastoma 1.100 0.012
pilocytic astrocytoma -1.100 0.000
spina bifida -1.033 0.034
Pick disease 1.100 0.001
progressive supranuclear palsy 1.100 0.009
Breast cancer -1.300 0.000
invasive ductal carcinoma -1.100 0.004
ovarian cancer -1.400 0.000
pituitary cancer 1.100 0.000

Synonym

Accession Q8NFD5 Q5JRD1 Q5VYC4 Q8IZY8 Q8TEV0 Q8TF02 Q99491 Q9ULI5 ARID domain-containing protein 1B
Symbols CSS1
OSA2
6A3-5
DAN15
MRD12
P250R
BRIGHT
BAF250B
ELD/OSA1

Gene

PDB

2CXY   2EH9  

  Ortholog (13)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Horse OMA Inparanoid
Cow OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Xenopus EggNOG Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly EggNOG Inparanoid

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
More...

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.
More...