AutismKB 2.0

Evidence Details for RUNDC3A


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Basic Information Top
Gene Symbol:RUNDC3A ( RAP2IP,RPIP-8,RPIP8 )
Gene Full Name: RUN domain containing 3A
Band: 17q21.31
Quick LinksEntrez ID:10900; OMIM: 605448; Uniprot ID:RUN3A_HUMAN; ENSEMBL ID: ENSG00000108309; HGNC ID: 16984
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RUNDC3A|10900|nucleotide
ATGGAAGCGAGCTTTGTCCAGACCACCATGGCTCTGGGGCTGTCCTCCAAGAAAGCGTCCTCTCGCAACGTGGCTGTGGAGCGTAAGAACCTGATCACCGTGTGC
AGGTTCTCTGTGAAAACGCTGCTGGAGAAGTACACAGCGGAGCCCATCGATGACTCATCGGAGGAGTTTGTCAATTTTGCAGCCATTTTAGAGCAGATCCTCAGC
CACCGCTTCAAAGCCTGTGCCCCAGCAGGTCCAGTGAGCTGGTTCAGCTCAGACGGGCAGCGGGGCTTTTGGGACTATATCCGGCTGGCCTGCAGCAAAGTGCCC
AACAACTGTGTGAGCAGCATCGAGAACATGGAGAACATCAGCACAGCCCGGGCCAAGGGCCGGGCATGGATCCGGGTGGCACTGATGGAGAAGCGCATGTCAGAA
TACATCACCACGGCTCTGCGTGACACCCGGACCACCAGACGGTTCTATGACTCTGGAGCCATCATGCTGCGGGATGAAGCCACCATCCTCACCGGAATGCTGATC
GGACTGAGCGCCATCGACTTCAGCTTCTGTCTAAAGGGGGAAGTCCTGGACGGGAAGACCCCCGTGGTCATCGATTACACGCCCTACCTAAAGTTCACGCAGAGC
TACGACTACCTGACGGACGAGGAGGAGCGGCACAGCGCCGAGAGCAGCACGAGCGAGGACAACTCGCCCGAGCACCCGTACCTCCCGCTCGTCACCGATGAGGAC
AGCTGGTACAGCAAGTGGCACAAGATGGAGCAGAAGTTCCGCATCGTCTACGCGCAGAAGGGCTACCTGGAGGAGCTGGTGCGTCTGCGCGAGTCGCAGCTGAAG
GACCTGGAGGCGGAGAACCGGCGGCTTCAGCTGCAGCTGGAGGAGGCGGCGGCGCAGAACCAGCGCGAGAAACGGGAGCTGGAAGGCGTGATCCTGGAGCTGCAG
GAGCAGCTGACAGGTCTGATCCCCAGTGACCACGCCCCTCTGGCCCAGGGTTCCAAGGAGCTCACTACACCCCTGGTCAATCAATGGCCCTCACTGGGAACGCTT
AATGGGGCCGAGGGCGCCAGCAACTCCAAGCTCTACCGGAGACACAGCTTCATGAGCACGGAGCCGCTGTCAGCTGAAGCCAGTCTGAGCTCGGACTCCCAGCGC
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>RUNDC3A|10900|protein
MEASFVQTTMALGLSSKKASSRNVAVERKNLITVCRFSVKTLLEKYTAEPIDDSSEEFVNFAAILEQILSHRFKACAPAGPVSWFSSDGQRGFWDYIRLACSKVP
NNCVSSIENMENISTARAKGRAWIRVALMEKRMSEYITTALRDTRTTRRFYDSGAIMLRDEATILTGMLIGLSAIDFSFCLKGEVLDGKTPVVIDYTPYLKFTQS
YDYLTDEEERHSAESSTSEDNSPEHPYLPLVTDEDSWYSKWHKMEQKFRIVYAQKGYLEELVRLRESQLKDLEAENRRLQLQLEEAAAQNQREKRELEGVILELQ
EQLTGLIPSDHAPLAQGSKELTTPLVNQWPSLGTLNGAEGASNSKLYRRHSFMSTEPLSAEASLSSDSQRLGEGTRDEEPWGPIGKDPTPSMLGLCGSLASIPSC
KSLASFKSNECLVSDSPEGSPALSPS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top