AutismKB 2.0

Evidence Details for PRIM2


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Basic Information Top
Gene Symbol:PRIM2 ( MGC75142,PRIM2A,p58 )
Gene Full Name: primase, DNA, polypeptide 2 (58kDa)
Band: 6p11.2
Quick LinksEntrez ID:5558; OMIM: 176636; Uniprot ID:PRI2_HUMAN; ENSEMBL ID: ENSG00000146143; HGNC ID: 9370
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRIM2|5558|nucleotide
ATGGAGTTTTCTGGAAGAAAGTGGAGGAAGCTGAGGTTGGCAGGTGACCAGAGGAATGCTTCCTACCCTCATTGCCTTCAGTTTTACTTGCAGCCACCTTCTGAA
AACATATCTTTAATAGAATTTGAAAACTTGGCTATTGATAGAGTTAAATTGTTAAAATCAGTTGAAAATCTTGGAGTGAGCTATGTGAAAGGAACTGAACAATAC
CAGAGTAAGTTGGAGAGTGAGCTTCGGAAGCTCAAGTTTTCCTACAGAGAAAACTTAGAAGATGAATATGAACCACGAAGAAGAGATCATATTTCTCATTTTATT
TTGCGGCTTGCTTATTGCCAGTCTGAAGAACTTAGACGCTGGTTCATTCAACAAGAAATGGATCTCCTTCGATTTAGATTTAGTATTTTACCCAAGGATAAAATT
CAGGATTTCTTAAAGGATAGCCAATTGCAGTTTGAGGCTATAAGTGATGAAGAGAAGACTCTTCGAGAACAGGAGATTGTTGCCTCATCACCAAGTTTAAGTGGA
CTTAAGTTGGGGTTCGAGTCCATTTATAAGATCCCTTTTGCTGATGCTCTGGATTTGTTTCGAGGAAGGAAAGTCTATTTGGAAGATGGCTTTGCTTACGTACCA
CTTAAGGACATTGTGGCAATCATCCTGAATGAATTTAGAGCCAAACTGTCCAAGGCTTTGGCATTAACAGCCAGGTCCTTGCCTGCTGTGCAGTCTGATGAAAGA
CTTCAGCCTCTGCTCAATCACCTCAGTCATTCCTACACTGGCCAAGATTACAGTACCCAGGGAAATGTTGGGAAGATTTCTTTAGATCAGATTGATTTGCTTTCT
ACCAAATCCTTCCCACCTTGCATGCGTCAGTTACATAAAGCCTTGCGGGAAAATCACCATCTTCGTCATGGAGGCCGAATGCAGTATGGCCTATTTCTGAAGGGC
ATTGGTTTAACTTTGGAACAGGCATTGCAGTTCTGGAAGCAAGAATTTATCAAAGGAAAGATGGATCCAGACAAGTTTGATAAAGGTTACTCTTACAACATCCGT
CACAGCTTTGGAAAGGAAGGCAAGAGGACAGACTATACACCTTTCAGTTGCCTGAAGATTATTCTGTCCAATCCACCAAGCCAAGGGGATTATCATGGGTGCCCA
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>PRIM2|5558|protein
MEFSGRKWRKLRLAGDQRNASYPHCLQFYLQPPSENISLIEFENLAIDRVKLLKSVENLGVSYVKGTEQYQSKLESELRKLKFSYRENLEDEYEPRRRDHISHFI
LRLAYCQSEELRRWFIQQEMDLLRFRFSILPKDKIQDFLKDSQLQFEAISDEEKTLREQEIVASSPSLSGLKLGFESIYKIPFADALDLFRGRKVYLEDGFAYVP
LKDIVAIILNEFRAKLSKALALTARSLPAVQSDERLQPLLNHLSHSYTGQDYSTQGNVGKISLDQIDLLSTKSFPPCMRQLHKALRENHHLRHGGRMQYGLFLKG
IGLTLEQALQFWKQEFIKGKMDPDKFDKGYSYNIRHSFGKEGKRTDYTPFSCLKIILSNPPSQGDYHGCPFRHSDPELLKQKLQSYKISPGGISQILDLVKGTHY
QVACQKYFEMIHNVDDCGFSLNHPNQFFCESQRILNGGKDIKKEPIQPETPQPKPSVQKTKDASSALASLNSSLEMDMEGLEDYFSEDS
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top