AutismKB 2.0

Evidence Details for PCNT


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Basic Information Top
Gene Symbol:PCNT ( KEN,MOPD2,PCN,PCNT2,PCNTB,PCTN2,SCKL4 )
Gene Full Name: pericentrin
Band: 21q22.3
Quick LinksEntrez ID:5116; OMIM: 605925; Uniprot ID:PCNT_HUMAN; ENSEMBL ID: ENSG00000160299; HGNC ID: 16068
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCNT|5116|nucleotide
ATGGAAGTTGAGCAAGAGCAGCGGCGCAGAAAGGTGGAGGCCGGGAGGACGAAGCTTGCTCACTTCCGACAGAGAAAAACAAAAGGTGACAGTTCGCATTCGGAG
AAAAAGACGGCGAAGAGGAAGGGCTCGGCTGTCGATGCGTCTGTCCAGGAGGAGAGTCCGGTAACCAAGGAGGACAGCGCACTCTGTGGAGGAGGGGACATTTGC
AAAAGCACATCATGTGACGACACCCCTGATGGGGCAGGAGGGGCCTTTGCAGCTCAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAG
CAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCA
GAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGT
GACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATG
TTCACAAAGGAGTGTGAACAAGAATGTGAACTTGCCATTACTGACCTGGAGAGCGGCCGTGAAGATGAGGCTGGCCTGCATCAGAGTCAGGCCGTGCATGGCCTT
GAGCTGGAGGCGCTGCGCCTGAGTCTGAGCAACATGCACACGGCGCAGCTGGAGCTGACACAGGCCAACCTCCAGAAGGAGAAGGAGACGGCATTGACGGAGCTG
CGGGAGATGCTCAACAGCCGGCGTGCCCAGGAGCTGGCCCTGCTACAGAGCAGGCAGCAGCACGAGCTGGAGCTCCTCAGGGAGCAGCACGCACGGGAGAAGGAG
GAGGTGGTGCTCAGGTGTGGACAGGAAGCAGCTGAGCTGAAGGAGAAGTTACAATCAGAAATGGAGAAAAACGCCCAGATAGTAAAGACCCTGAAGGAAGATTGG
GAATCTGAAAAAGATTTATGTTTAGAAAATCTACGCAAAGAACTGTCTGCAAAGCATCAATCAGAAATGGAGGATTTACAAAACCAGTTTCAGAAAGAATTGGCA
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>PCNT|5116|protein
MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQ
QKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGM
FTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKE
EVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLR
EDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEK
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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) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top