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Aliases for ARID1B Gene

Aliases for ARID1B Gene

  • AT-Rich Interaction Domain 1B 2 3 5
  • AT Rich Interactive Domain 1B (SWI1-Like) 2 3
  • ARID Domain-Containing Protein 1B 3 4
  • BRG1-Associated Factor 250b 3 4
  • BAF250B 3 4
  • P250R 3 4
  • DAN15 3 4
  • OSA2 3 4
  • AT-Rich Interactive Domain-Containing Protein 1B 3
  • BRG1-Binding Protein HELD/OSA1 4
  • BRG1-Binding Protein ELD/OSA1 3
  • ELD (Eyelid)/OSA Protein 3
  • Osa Homolog 2 4
  • ELD/OSA1 3
  • KIAA1235 4
  • BRIGHT 3
  • 6A3-5 3
  • MRD12 3
  • HOsa2 4
  • CSS1 3

External Ids for ARID1B Gene

Previous GeneCards Identifiers for ARID1B Gene

  • GC06P157130
  • GC06P157191
  • GC06P154662
  • GC06P157105

Summaries for ARID1B Gene

Entrez Gene Summary for ARID1B Gene

  • This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneCards Summary for ARID1B Gene

ARID1B (AT-Rich Interaction Domain 1B) is a Protein Coding gene. Diseases associated with ARID1B include Coffin-Siris Syndrome 1 and Hypertrichosis. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include binding and transcription coactivator activity. An important paralog of this gene is ARID1A.

UniProtKB/Swiss-Prot for ARID1B Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388).

Gene Wiki entry for ARID1B Gene

Additional gene information for ARID1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARID1B Gene

Genomics for ARID1B Gene

GeneHancer (GH) Regulatory Elements for ARID1B Gene

Promoters and enhancers for ARID1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J156775 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.9 +2.5 2523 8.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ARID1B ENSG00000271551 MIR4466 GC06P156778 ENSG00000270487 LOC100420839 GC06M156778
GH06J157322 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 62.6 +546.9 546872 3.3 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 TMEM242 ENSG00000271040 ARID1B LOC100420839 ENSG00000271265 ENSG00000271551 LOC105378078 SYNJ2-IT1 LOC105378073 SNX9
GH06J157767 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 54.4 +992.0 992001 4.7 FOS IKZF2 ZNF202 ZNF680 ZNF654 ZBTB11 REST ZNF623 ZNF518A ZNF781 ARID1B ENSG00000271551 ENSG00000271265 LOC100420839 SNX9 ENSG00000234361
GH06J156685 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.7 -90.0 -89955 3.4 HDGF PKNOX1 SMAD1 ARNT SIN3A DMAP1 YY1 POLR2B SP3 ZHX2 ARID1B ENSG00000220347 ENSG00000271265
GH06J157018 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +243.7 243692 5.2 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ZNF610 ARID1B LOC100420839 ZDHHC14 GC06P156977 ENSG00000233044
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARID1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARID1B gene promoter:
  • Pbx1a
  • AREB6
  • POU3F1
  • RORalpha2
  • POU2F1
  • POU2F1a
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for ARID1B Gene

Genomic Locations for ARID1B Gene
chr6:156,777,374-157,210,779
(GRCh38/hg38)
Size:
433,406 bases
Orientation:
Plus strand
chr6:157,099,063-157,531,913
(GRCh37/hg19)
Size:
432,851 bases
Orientation:
Plus strand

Genomic View for ARID1B Gene

Genes around ARID1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARID1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARID1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID1B Gene

Proteins for ARID1B Gene

  • Protein details for ARID1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFD5-ARI1B_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 1B
    Protein Accession:
    Q8NFD5
    Secondary Accessions:
    • Q5JRD1
    • Q5VYC4
    • Q8IZY8
    • Q8TEV0
    • Q8TF02
    • Q99491
    • Q9ULI5

    Protein attributes for ARID1B Gene

    Size:
    2236 amino acids
    Molecular mass:
    236123 Da
    Quaternary structure:
    • Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B (PubMed:12672490, PubMed:22952240, PubMed:26601204, PubMed:12200431, PubMed:11988099, PubMed:15170388). The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:11734557, PubMed:22952240, PubMed:26601204). Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of a SWI/SNF-like EBAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:11988099, PubMed:15170388). Interacts with SMARCC1/BAF155 (PubMed:15170388).
    SequenceCaution:
    • Sequence=AAL76077.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAN70985.1; Type=Frameshift; Positions=857, 863; Evidence={ECO:0000305}; Sequence=CAA69592.1; Type=Frameshift; Positions=132; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARID1B Gene

    Alternative splice isoforms for ARID1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID1B Gene

Post-translational modifications for ARID1B Gene

  • Ubiquitination at Lys2187 and posLast=20972097
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ARID1B

No data available for DME Specific Peptides for ARID1B Gene

Domains & Families for ARID1B Gene

Gene Families for ARID1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ARID1B Gene

Suggested Antigen Peptide Sequences for ARID1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARID1B: view

No data available for UniProtKB/Swiss-Prot for ARID1B Gene

Function for ARID1B Gene

Molecular function for ARID1B Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388).

Phenotypes From GWAS Catalog for ARID1B Gene

Gene Ontology (GO) - Molecular Function for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity NAS 11734557
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 12200431
genes like me logo Genes that share ontologies with ARID1B: view
genes like me logo Genes that share phenotypes with ARID1B: view

Human Phenotype Ontology for ARID1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARID1B Gene

MGI Knock Outs for ARID1B:
  • Arid1b Arid1b<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARID1B Gene

Localization for ARID1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID1B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARID1B gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARID1B: view

Pathways & Interactions for ARID1B Gene

genes like me logo Genes that share pathways with ARID1B: view

Gene Ontology (GO) - Biological Process for ARID1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006325 chromatin organization IEA --
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ARID1B: view

No data available for SIGNOR curated interactions for ARID1B Gene

Drugs & Compounds for ARID1B Gene

No Compound Related Data Available

Transcripts for ARID1B Gene

mRNA/cDNA for ARID1B Gene

Unigene Clusters for ARID1B Gene

AT rich interactive domain 1B (SWI1-like):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARID1B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: -
SP4: - - - -
SP5: - -
SP6: - - - - -
SP7: -
SP8: - -
SP9:
SP10:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ARID1B Gene

GeneLoc Exon Structure for
ARID1B
ECgene alternative splicing isoforms for
ARID1B

Expression for ARID1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARID1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARID1B Gene

This gene is overexpressed in Serum (13.3), Lung (13.0), and Peripheral blood mononuclear cells (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARID1B Gene



Protein tissue co-expression partners for ARID1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARID1B Gene:

ARID1B

SOURCE GeneReport for Unigene cluster for ARID1B Gene:

Hs.291587

mRNA Expression by UniProt/SwissProt for ARID1B Gene:

Q8NFD5-ARI1B_HUMAN
Tissue specificity: Widely expressed with high levels in heart, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for ARID1B Gene

  • Nervous system(4.5)
  • Liver(4.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARID1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ARID1B: view

No data available for mRNA differential expression in normal tissues for ARID1B Gene

Orthologs for ARID1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID1B 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARID1B 34 33
  • 90.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARID1B 34 33
  • 89.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arid1b 16 34 33
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Arid1b 33
  • 86.92 (n)
oppossum
(Monodelphis domestica)
Mammalia ARID1B 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARID1B 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARID1B 34 33
  • 82.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARID1B 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid1b 33
  • 74.04 (n)
zebrafish
(Danio rerio)
Actinopterygii arid1b 34 33
  • 63.75 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta osa 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-526 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
ManyToMany
Species where no ortholog for ARID1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARID1B Gene

ENSEMBL:
Gene Tree for ARID1B (if available)
TreeFam:
Gene Tree for ARID1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARID1B: view image

Paralogs for ARID1B Gene

Paralogs for ARID1B Gene

(4) SIMAP similar genes for ARID1B Gene using alignment to 6 proteins:

  • ARI1B_HUMAN
  • G3XAA0_HUMAN
  • H0Y2R3_HUMAN
  • H0Y3S9_HUMAN
  • H0Y7H8_HUMAN
  • L8EAX2_HUMAN
genes like me logo Genes that share paralogs with ARID1B: view

Variants for ARID1B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ARID1B Gene

ARI1B_HUMAN-Q8NFD5
The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23).

Sequence variations from dbSNP and Humsavar for ARID1B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1028186690 pathogenic, Coffin-Siris syndrome 1 157,206,971(+) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained
rs1057518648 likely-pathogenic, Mental retardation, autosomal dominant 12 156,777,946(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1057518691 pathogenic, Mental retardation, autosomal dominant 12 157,189,781(+) G/C splice_donor_variant
rs1057518918 likely-pathogenic, Bilateral cryptorchidism, Delayed speech and language development, Global developmental delay, Hypertrichosis, Intellectual disability, Neurological speech impairment 157,184,329(+) CC/C coding_sequence_variant, frameshift
rs1057518951 pathogenic, Agenesis of corpus callosum, Global developmental delay, Hypertrichosis, Nail dysplasia, Neonatal hypotonia 156,829,296(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ARID1B Gene

Variant ID Type Subtype PubMed ID
dgv1071n67 CNV gain 20364138
esv1041952 CNV deletion 17803354
esv1286652 CNV deletion 17803354
esv2673117 CNV deletion 23128226
esv27020 CNV loss 19812545
esv33003 CNV loss 17666407
esv3353296 CNV duplication 20981092
esv3540719 CNV deletion 23714750
esv3571485 CNV loss 25503493
esv3611364 CNV loss 21293372
esv3611366 CNV loss 21293372
esv3611368 CNV loss 21293372
esv3611369 CNV loss 21293372
esv3611371 CNV loss 21293372
esv3611372 CNV loss 21293372
esv3611373 CNV loss 21293372
esv3890969 CNV loss 25118596
nsv1032563 CNV gain 25217958
nsv1073598 CNV deletion 25765185
nsv1074970 CNV deletion 25765185
nsv1119088 CNV deletion 24896259
nsv1145109 CNV deletion 24896259
nsv474327 CNV novel sequence insertion 20440878
nsv475779 CNV novel sequence insertion 20440878
nsv478583 CNV novel sequence insertion 20440878
nsv507370 OTHER sequence alteration 20534489
nsv508436 CNV deletion 20534489
nsv519889 CNV loss 19592680
nsv523413 CNV gain 19592680
nsv5556 CNV deletion 18451855
nsv604976 CNV loss 21841781
nsv604977 CNV loss 21841781
nsv823884 CNV loss 20364138
nsv949871 CNV deletion 24416366
nsv970181 CNV duplication 23825009

Variation tolerance for ARID1B Gene

Residual Variation Intolerance Score: 1.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARID1B Gene

Human Gene Mutation Database (HGMD)
ARID1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARID1B

Disorders for ARID1B Gene

MalaCards: The human disease database

(12) MalaCards diseases for ARID1B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARI1B_HUMAN
  • Coffin-Siris syndrome 1 (CSS1) [MIM:135900]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269 PubMed:22405089, ECO:0000269 PubMed:22426308, ECO:0000269 PubMed:22426309}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARID1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARID1B: view

No data available for Genatlas for ARID1B Gene

Publications for ARID1B Gene

  1. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. (PMID: 26637798) D'Gama AM … Walsh CA (Neuron 2015) 3 4 58
  2. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. (PMID: 26376624) Yu Y … Shen Y (BMC genomics 2015) 3 4 58
  3. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. (PMID: 22426308) Tsurusaki Y … Matsumoto N (Nature genetics 2012) 3 4 58
  4. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (PMID: 22426309) Santen GW … Kriek M (Nature genetics 2012) 3 4 58
  5. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. (PMID: 22405089) Hoyer J … Reis A (American journal of human genetics 2012) 3 4 58

Products for ARID1B Gene

Sources for ARID1B Gene

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