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AT rich interactive domain 1B (SWI1-like) OKDB#: 4796
 Symbols: ARID1B Species: human
 Synonyms: OSA2, 6A3-5, DAN15, MRD12, P250R, BRIGHT, BAF250B, ELD/OSA1,  Locus: 6q25.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]
General function
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Cellular localization
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Ovarian function Early embryo development
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Expression regulated by
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Ovarian localization Cumulus
Comment Identification of a novel gene set in human cumulus cells predictive of an oocyte's pregnancy potential. Iager AE et al. OBJECTIVE: To identify a gene expression signature in human cumulus cells (CCs) predictive of pregnancy outcome across multiple clinics, taking into account the clinic and patient variations inherent in IVF practice. DESIGN: Retrospective analysis of single human cumulus-oocyte complexes with the use of a combined microarray and quantitative reverse-transcription polymerase chain reaction (qRT-PCR) approach. SETTING: Multiple private IVF clinics. PATIENT(S): Fifty-eight patients. Samples from 55 of underwent qRT-PCR analysis, and samples from 27 patients resulted in live birth. INTERVENTION(S): Gene expression analysis for correlation with pregnancy outcome on individual human CCs collected immediately after oocyte retrieval. Pregnancy prediction analysis used leave-one-out cross-validation with weighted voting. MAIN OUTCOME MEASURE(S): Combinatorial expression of 12 genes in 101 samples from 58 patients. RESULT(S): We found a set of 12 genes predictive of pregnancy outcome based on their expression levels in CCs. This pregnancy prediction model had an accuracy of 78%, a sensitivity of 72%, a specificity of 84%, a positive predictive value of 81%, and a negative predictive value of 76%. Receiver operating characteristic analysis found an area under the curve of 0.763 0.079, significantly greater than 0.5 (random chance prediction). CONCLUSION(S): Gene expression analysis in human CCs should be considered in identifying oocytes with a high potential to lead to pregnancy in IVF-ET.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Dec. 5, 2012, 12:03 p.m. by: hsueh   email:
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last update: Dec. 5, 2012, 12:04 p.m. by: hsueh    email:



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