AutismKB 2.0

Evidence Details for PRKRIP1


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Basic Information Top
Gene Symbol:PRKRIP1 ( C114,FLJ13902,FLJ40957,KRBOX3 )
Gene Full Name: PRKR interacting protein 1 (IL11 inducible)
Band: 7q22.1
Quick LinksEntrez ID:79706; OMIM: NA; Uniprot ID:PKRI1_HUMAN; ENSEMBL ID: ENSG00000128563; HGNC ID: 21894
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKRIP1|79706|nucleotide
ATGGCTAGCCCAGCCGCCTCCTCGGTGCGACCACCGAGGCCCAAGAAAGAGCCGCAGACGCTCGTCATCCCCAAGAATGCGGCGGAGGAGCAGAAGCTCAAGCTG
GAGCGGCTCATGAAGAACCCGGACAAAGCAGTTCCAATTCCAGAGAAAATGAGTGAATGGGCACCTCGACCTCCCCCAGAATTTGTCCGAGATGTCATGGGTTCA
AGTGCTGGGGCCGGCAGTGGAGAGTTCCACGTGTACAGACATCTGCGCCGGAGAGAATATCAGCGACAGGACTACATGGATGCCATGGCTGAGAAGCAAAAATTG
GATGCAGAGTTTCAGAAAAGACTGGAAAAGAATAAAATTGCTGCAGAGGAGCAGACCGCAAAGCGCCGGAAGAAGCGCCAGAAGTTAAAAGAGAAGAAATTACTG
GCAAAGAAGATGAAACTTGAACAGAAGAAACAAGAAGGACCCGGTCAGCCCAAGGAGCAGGGGTCCAGCAGCTCTGCGGAGGCATCTGGAACAGAGGAGGAGGAG
GAAGTGCCCAGTTTCACCATGGGGCGATGA





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>PRKRIP1|79706|protein
MASPAASSVRPPRPKKEPQTLVIPKNAAEEQKLKLERLMKNPDKAVPIPEKMSEWAPRPPPEFVRDVMGSSAGAGSGEFHVYRHLRRREYQRQDYMDAMAEKQKL
DAEFQKRLEKNKIAAEEQTAKRRKKRQKLKEKKLLAKKMKLEQKKQEGPGQPKEQGSSSSAEASGTEEEEEVPSFTMGR



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top