AutismKB 2.0

Evidence Details for PCSK2


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Basic Information Top
Gene Symbol:PCSK2 ( NEC2,PC2,SPC2 )
Gene Full Name: proprotein convertase subtilisin/kexin type 2
Band: 20p12.1
Quick LinksEntrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCSK2|5126|nucleotide
ATGGTTTTTGCATCTGCTGAGCGACCGGTCTTCACGAATCATTTTCTTGTGGAGTTGCATAAAGGGGGAGAGGACAAAGCTCGCCAAGTTGCAGCAGAACACGGC
TTTGGAGTCCGAAAGCTTCCCTTTGCTGAAGGTCTGTACCACTTTTATCACAATGGCCTTGCAAAGGCCAAGAGAAGACGCAGCCTACACCACAAGCAGCAGCTG
GAGAGAGACCCCAGGGTAAAGATGGCTTTGCAGCAGGAAGGATTTGACCGAAAAAAGCGAGGTTACAGAGACATCAATGAGATCGACATCAACATGAACGATCCT
CTTTTTACAAAGCAGTGGTATCTGATCAATACTGGGCAAGCTGATGGCACTCCTGGCCTTGATTTGAATGTGGCTGAAGCCTGGGAGCTGGGATACACAGGGAAA
GGTGTTACCATTGGAATTATGGATGATGGGATTGACTATCTCCACCCGGACCTGGCCTCCAACTATAATGCCGAAGCAAGTTACGACTTCAGCAGCAACGACCCC
TATCCTTACCCTCGGTACACAGATGACTGGTTTAACAGCCACGGGACCCGATGTGCAGGAGAAGTTTCTGCTGCCGCCAACAACAATATCTGTGGAGTTGGAGTA
GCATACAACTCCAAGGTTGCAGGCATCCGGATGCTGGACCAGCCATTCATGACAGACATCATCGAGGCCTCCTCCATCAGTCATATGCCACAGCTGATTGACATC
TACAGCGCCAGCTGGGGCCCCACAGACAACGGCAAGACAGTGGATGGGCCCCGGGAGCTCACGCTGCAGGCCATGGCCGATGGCGTGAACAAGGGCCGCGGCGGC
AAAGGCAGCATCTACGTGTGGGCCTCCGGGGACGGCGGCAGCTATGACGACTGCAACTGCGACGGCTACGCCTCCAGCATGTGGACCATCTCCATCAACTCAGCC
ATCAACGACGGCAGGACTGCCCTGTACGACGAGAGCTGCTCTTCCACCTTGGCTTCCACCTTCAGCAACGGGAGGAAAAGGAACCCCGAGGCCGGTGTGGCAACC
ACAGATTTGTACGGCAACTGCACTCTGAGGCATTCTGGGACATCTGCAGCTGCCCCCGAGGCAGCTGGTGTGTTTGCACTGGCTCTGGAGGCTAACCTGGGTCTG
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>PCSK2|5126|protein
MVFASAERPVFTNHFLVELHKGGEDKARQVAAEHGFGVRKLPFAEGLYHFYHNGLAKAKRRRSLHHKQQLERDPRVKMALQQEGFDRKKRGYRDINEIDINMNDP
LFTKQWYLINTGQADGTPGLDLNVAEAWELGYTGKGVTIGIMDDGIDYLHPDLASNYNAEASYDFSSNDPYPYPRYTDDWFNSHGTRCAGEVSAAANNNICGVGV
AYNSKVAGIRMLDQPFMTDIIEASSISHMPQLIDIYSASWGPTDNGKTVDGPRELTLQAMADGVNKGRGGKGSIYVWASGDGGSYDDCNCDGYASSMWTISINSA
INDGRTALYDESCSSTLASTFSNGRKRNPEAGVATTDLYGNCTLRHSGTSAAAPEAAGVFALALEANLGLTWRDMQHLTVLTSKRNQLHDEVHQWRRNGVGLEFN
HLFGYGVLDAGAMVKMAKDWKTVPERFHCVGGSVQDPEKIPSTGKLVLTLTTDACEGKENFVRYLEHVQAVITVNATRRGDLNINMTSPMGTKSILLSRRPRDDD
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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 (1) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (6)
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
Michaelis, 1997 - STS mappingautism - - - - 1 - 1
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top