AutismKB 2.0

Evidence Details for PICK1


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Basic Information Top
Gene Symbol:PICK1 ( MGC15204,PICK,PRKCABP )
Gene Full Name: protein interacting with PRKCA 1
Band: 22q13.1
Quick LinksEntrez ID:9463; OMIM: 605926; Uniprot ID:PICK1_HUMAN; ENSEMBL ID: ENSG00000100151; HGNC ID: 9394
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PICK1|9463|nucleotide
ATGTTTGCAGACTTGGATTATGACATCGAAGAGGATAAACTCGGAATCCCGACTGTGCCTGGGAAGGTGACCCTGCAGAAGGATGCTCAGAACCTGATCGGGATC
AGCATTGGAGGAGGGGCCCAGTACTGTCCCTGCCTCTATATCGTCCAGGTATTTGACAACACCCCAGCAGCCTTGGACGGCACAGTGGCAGCTGGCGATGAGATC
ACCGGTGTCAATGGCAGGTCAATCAAAGGGAAAACTAAGGTGGAGGTGGCGAAGATGATTCAGGAGGTGAAGGGGGAGGTGACCATCCACTACAACAAGCTGCAG
GCGGACCCCAAGCAGGGCATGTCCCTGGACATTGTGTTGAAGAAAGTCAAGCACCGGCTGGTGGAGAACATGAGTTCAGGGACCGCAGATGCTCTGGGCCTGAGC
CGGGCCATCCTGTGCAATGATGGGCTTGTCAAGAGGCTAGAGGAGCTGGAGCGGACCGCTGAGCTATACAAAGGGATGACGGAACACACCAAGAACCTCCTACGG
GCCTTTTATGAGCTGTCGCAGACTCACCGGGCCTTTGGGGACGTGTTCTCCGTGATCGGGGTGCGGGAGCCCCAGCCAGCTGCGAGCGAGGCTTTTGTGAAGTTC
GCCGATGCCCACCGCAGCATCGAGAAGTTCGGCATTCGGCTTCTGAAAACCATCAAGCCGATGCTGACGGATCTGAACACGTACCTCAACAAAGCCATCCCGGAC
ACTCGCCTCACCATCAAGAAGTACCTGGACGTGAAGTTTGAGTACCTGTCGTACTGCCTGAAGGTGAAGGAGATGGATGACGAGGAATACAGCTGCATTGCCCTA
GGCGAGCCCCTTTACCGGGTGAGCACCGGCAACTATGAGTACCGCCTGATCCTGCGCTGCCGCCAGGAGGCGCGCGCCCGCTTCTCCCAGATGCGCAAGGATGTG
CTGGAGAAGATGGAGCTGCTGGACCAGAAGCACGTCCAGGACATCGTGTTCCAGCTGCAGCGCCTCGTGTCCACCATGTCCAAGTACTACAACGACTGCTACGCA
GTGCTGCGGGATGCCGACGTCTTCCCCATCGAGGTAGACCTGGCGCACACCACATTGGCCTATGGCCTCAACCAGGAGGAGTTCACAGATGGGGAGGAGGAGGAG
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>PICK1|9463|protein
MFADLDYDIEEDKLGIPTVPGKVTLQKDAQNLIGISIGGGAQYCPCLYIVQVFDNTPAALDGTVAAGDEITGVNGRSIKGKTKVEVAKMIQEVKGEVTIHYNKLQ
ADPKQGMSLDIVLKKVKHRLVENMSSGTADALGLSRAILCNDGLVKRLEELERTAELYKGMTEHTKNLLRAFYELSQTHRAFGDVFSVIGVREPQPAASEAFVKF
ADAHRSIEKFGIRLLKTIKPMLTDLNTYLNKAIPDTRLTIKKYLDVKFEYLSYCLKVKEMDDEEYSCIALGEPLYRVSTGNYEYRLILRCRQEARARFSQMRKDV
LEKMELLDQKHVQDIVFQLQRLVSTMSKYYNDCYAVLRDADVFPIEVDLAHTTLAYGLNQEEFTDGEEEEEEEDTAAGEPSRDTRGAAGPLDKGGSWCDS

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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 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top