AutismKB 2.0

Evidence Details for SRP72


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Basic Information Top
Gene Symbol:SRP72 ( - )
Gene Full Name: signal recognition particle 72kDa
Band: 4q12
Quick LinksEntrez ID:6731; OMIM: 602122; Uniprot ID:SRP72_HUMAN; ENSEMBL ID: ENSG00000174780; HGNC ID: 11303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SRP72|6731|nucleotide
ATGGCGAGCGGCGGCAGCGGGGGGGTGTCAGTACCTGCGCTGTGGAGTGAAGTGAACCGGTATGGCCAGAACGGCGACTTCACGCGCGCTCTCAAGACCGTCAAT
AAGATACTACAGATCAACAAAGATGACGTAACTGCCCTGCATTGTAAAGTGGTATGCCTTATCCAGAATGGAAGTTTCAAGGAAGCTTTGAATGTCATCAATACT
CACACCAAAGTGTTAGCCAATAACTCTCTCTCCTTTGAAAAGGCATATTGCGAGTACAGGCTGAACAGAATTGAGAATGCCTTGAAGACAATAGAAAGTGCCAAC
CAGCAGACAGACAAACTGAAGGAGCTTTATGGACAAGTGTTATACCGTTTGGAACGCTATGATGAATGCTTAGCAGTGTATAGAGATCTCGTCCGAAACTCCCAA
GATGATTATGATGAGGAGAGGAAAACAAACCTTTCAGCAGTTGTTGCAGCTCAAAGCAATTGGGAAAAAGTGGTTCCAGAGAACCTGGGCCTCCAAGAAGGCACA
CATGAGCTGTGCTACAACACTGCATGTGCACTGATAGGCCAAGGCCAGCTGAACCAGGCCATGAAAATCCTACAAAAAGCTGAAGATCTTTGCCGCCGTTCATTA
TCAGAAGACACTGATGGGACTGAGGAAGACCCACAGGCAGAACTGGCCATCATTCATGGTCAGATGGCTTATATTCTGCAGCTTCAGGGTCGAACAGAGGAGGCT
TTGCAACTTTACAATCAAATAATAAAACTAAAACCAACAGATGTGGGATTACTAGCTGTAATTGCAAATAACATCATTACCATTAACAAGGACCAAAATGTCTTT
GACTCCAAGAAGAAAGTGAAATTAACCAATGCGGAAGGAGTAGAGTTTAAGCTTTCCAAGAAACAACTACAAGCTATAGAATTTAACAAAGCTTTACTTGCTATG
TACACAAACCAGGCTGAACAATGCCGCAAAATATCTGCCAGTTTACAGTCCCAAAGTCCCGAGCATCTCTTACCTGTGTTAATCCAAGCTGCCCAGCTCTGCCGT
GAAAAGCAGCACACAAAAGCAATAGAGCTGCTTCAGGAATTTTCAGATCAGCATCCAGAAAATGCAGCTGAAATTAAGCTGACCATGGCACAGTTGAAAATTTCT
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>SRP72|6731|protein
MASGGSGGVSVPALWSEVNRYGQNGDFTRALKTVNKILQINKDDVTALHCKVVCLIQNGSFKEALNVINTHTKVLANNSLSFEKAYCEYRLNRIENALKTIESAN
QQTDKLKELYGQVLYRLERYDECLAVYRDLVRNSQDDYDEERKTNLSAVVAAQSNWEKVVPENLGLQEGTHELCYNTACALIGQGQLNQAMKILQKAEDLCRRSL
SEDTDGTEEDPQAELAIIHGQMAYILQLQGRTEEALQLYNQIIKLKPTDVGLLAVIANNIITINKDQNVFDSKKKVKLTNAEGVEFKLSKKQLQAIEFNKALLAM
YTNQAEQCRKISASLQSQSPEHLLPVLIQAAQLCREKQHTKAIELLQEFSDQHPENAAEIKLTMAQLKISQGNISKACLILRSIEELKHKPGMVSALVTMYSHEE
DIDSAIEVFTQAIQWYQNHQPKSPAHLSLIREAANFKLKYGRKKEAISDLQQLWKQNPKDIHTLAQLISAYSLVDPEKAKALSKHLPSSDSMSLKVDVEALENSA
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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 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top