AutismKB 2.0

Evidence Details for RBM12


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Basic Information Top
Gene Symbol:RBM12 ( HRIHFB2091,KIAA0765,SWAN )
Gene Full Name: RNA binding motif protein 12
Band: 20q11.22
Quick LinksEntrez ID:10137; OMIM: 607179; Uniprot ID:RBM12_HUMAN; ENSEMBL ID: ENSG00000214078,ENSG00000244462; HGNC ID: 9898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBM12|10137|nucleotide
ATGGCTGTGGTCATCCGTTTGCAAGGTCTCCCAATTGTGGCGGGGACCATGGACATTCGCCACTTCTTCTCTGGATTGACCATTCCTGATGGGGGCGTGCATATT
GTAGGGGGTGAACTGGGTGAGGCTTTCATCGTTTTTGCCACTGATGAAGATGCAAGGCTTGGTATGATGCGCACAGGTGGTACAATTAAAGGGTCAAAAGTAACA
CTATTGTTGAGTAGTAAGACGGAAATGCAGAATATGATTGAACTGAGTCGTAGGCGTTTTGAAACTGCCAACTTAGATATACCACCAGCAAATGCCAGTAGATCA
GGACCACCACCTAGCTCAGGAATGAGTAGCAGGGTAAACTTGCCCACAACAGTATCCAACTTTAATAATCCATCACCCAGTGTAGTTACTGCCACCACTTCTGTT
CATGAAAGCAACAAAAACATACAGACATTTTCCACAGCCAGCGTAGGAACAGCTCCTCCAAATATGGGGGCTTCCTTTGGGAGCCCAACGTTTAGCTCAACTGTT
CCAAGCACAGCCTCTCCAATGAACACAGTCCCGCCGCCACCAATTCCTCCAATTCCAGCGATGCCATCTCTGCCACCAATGCCATCCATTCCCCCAATTCCAGTT
CCTCCTCCAGTACCTACATTGCCTCCTGTGCCTCCTGTGCCCCCGATTCCCCCAGTTCCTTCTGTGCCACCCATGACCCCACTGCCACCCATGTCGGGCATGCCG
CCCTTGAATCCGCCACCTGTGGCACCTCTACCTGCTGGAATGAATGGCTCTGGAGCACCTATGAATTTGAACAATAATCTGAATCCTATGTTTCTTGGTCCGTTG
AATCCTGTTAACCCTATCCAGATGAACTCTCAGAGCAGTGTGAAGCCACTCCCCATCAACCCTGATGATCTGTATGTCAGTGTGCATGGAATGCCCTTTTCTGCA
ATGGAAAATGATGTCAGAGATTTTTTTCATGGGCTCCGTGTTGATGCAGTGCATTTGTTGAAAGATCATGTAGGTCGAAATAATGGGAATGGATTGGTTAAGTTT
CTCTCCCCTCAAGATACATTTGAAGCTTTGAAACGAAACAGAATGCTGATGATTCAACGCTATGTGGAAGTTAGCCCTGCCACAGAAAGACAGTGGGTAGCTGCT
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>RBM12|10137|protein
MAVVIRLQGLPIVAGTMDIRHFFSGLTIPDGGVHIVGGELGEAFIVFATDEDARLGMMRTGGTIKGSKVTLLLSSKTEMQNMIELSRRRFETANLDIPPANASRS
GPPPSSGMSSRVNLPTTVSNFNNPSPSVVTATTSVHESNKNIQTFSTASVGTAPPNMGASFGSPTFSSTVPSTASPMNTVPPPPIPPIPAMPSLPPMPSIPPIPV
PPPVPTLPPVPPVPPIPPVPSVPPMTPLPPMSGMPPLNPPPVAPLPAGMNGSGAPMNLNNNLNPMFLGPLNPVNPIQMNSQSSVKPLPINPDDLYVSVHGMPFSA
MENDVRDFFHGLRVDAVHLLKDHVGRNNGNGLVKFLSPQDTFEALKRNRMLMIQRYVEVSPATERQWVAAGGHITFKQNMGPSGQTHPPPQTLPRSKSPSGQKRS
RSRSPHEAGFCVYLKGLPFEAENKHVIDFFKKLDIVEDSIYIAYGPNGKATGEGFVEFRNEADYKAALCRHKQYMGNRFIQVHPITKKGMLEKIDMIRKRLQNFS
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top