Gene Page:ARID1B

Summary?
GeneID 57492
Symbol ARID1B
Synonyms 6A3-5|BAF250B|BRIGHT|DAN15|ELD/OSA1|MRD12|OSA2|P250R
Description AT-rich interaction domain 1B
Reference MIM:614556|HGNC:HGNC:18040|Ensembl:ENSG00000049618|HPRD:10660|Vega:OTTHUMG00000015890
Gene type protein-coding
Map location 6q25.1
Pascal p-value 0.002
Sherlock p-value 0.448
Fetal beta 0.746
Support CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
ARID1B chr6 157495166 T C NM_017519
NM_020732		 p.1004M>T
p.1017M>T		 missense
missense		 Schizophrenia DNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
死神:胎儿(13- 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003677 DNA binding IEA -
GO:0003713 transcription coactivator activity NAS 11734557
GO:0005515 protein binding 新闻学会 12200431
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006355 regulation of transcription, DNA-dependent IEA -
GO:0006350 transcription IEA -
GO:0016568 chromatin modification IEA -
GO:0048096 chromatin-mediated maintenance of transcription NAS 11734557
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005622 intracellular IEA -
GO:0005634 nucleus IEA -
GO:0016514 SWI/SNF complex IDA 11734557

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634 384 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355 243 All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205 145 All SZGR 2.0 genes in this pathway
KIM MYCN AMPLIFICATION TARGETS DN 103 59 All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988 594 All SZGR 2.0 genes in this pathway
BENPORATH OCT4 TARGETS 290 172 All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734 436 All SZGR 2.0 genes in this pathway
BENPORATH NOS TARGETS 179 105 All SZGR 2.0 genes in this pathway
MARIADASON RESPONSE TO BUTYRATE SULINDAC 6 52 32 All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566 371 All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 1972 1213 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-128 1370 1377 1A,m8 hsa-miR-128a UCACAGUGAACCGGUCUCUUUU
hsa-miR-128b UCACAGUGAACCGGUCUCUUUC
miR-129-5p 952 958 1A hsa-miR-129brain CUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5p CUUUUUGCGGUCUGGGCUUGCU
hsa-miR-129brain CUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5p CUUUUUGCGGUCUGGGCUUGCU
hsa-miR-129brain CUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5p CUUUUUGCGGUCUGGGCUUGCU
hsa-miR-129brain CUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5p CUUUUUGCGGUCUGGGCUUGCU
miR-142-5p 1320 1326 1A hsa-miR-142-5p CAUAAAGUAGAAAGCACUAC
miR-25/32/92/363/367 489 496 1A,m8 hsa-miR-25brain CAUUGCACUUGUCUCGGUCUGA
hsa-miR-32 UAUUGCACAUUACUAAGUUGC
hsa-miR-92 UAUUGCACUUGUCCCGGCCUG
hsa-miR-367 AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZ UAUUGCACUCGUCCCGGCCUC
miR-27 1371 1377 m8 hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC
miR-329 194 200 1A hsa-miR-329brain AACACACCUGGUUAACCUCUUU
miR-342 22 28 m8 hsa-miR-342brain UCUCACACAGAAAUCGCACCCGUC
miR-34b 760 767 1A,m8 hsa-miR-34b UAGGCAGUGUCAUUAGCUGAUUG
miR-377 21 27 m8 hsa-miR-377 AUCACACAAAGGCAACUUUUGU
miR-382 1177 1183 m8 hsa-miR-382brain GAAGUUGUUCGUGGUGGAUUCG
miR-410 922 928 1A hsa-miR-410 AAUAUAACACAGAUGGCCUGU
miR-433-3p 1070 1076 1A hsa-miR-433brain AUCAUGAUGGGCUCCUCGGUGU
miR-493-5p 1004 1011 1A,m8 hsa-miR-493-5p UUGUACAUGGUAGGCUUUCAUU
hsa-miR-493-5p UUGUACAUGGUAGGCUUUCAUU
miR-496 1264 1270 1A hsa-miR-496 AUUACAUGGCCAAUCUC
miR-9 241 247 m8 hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA