AutismKB 2.0

Evidence Details for PCSK5


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Basic Information Top
Gene Symbol:PCSK5 ( FLJ11149,FLJ16215,PC5,PC6,PC6A,SPC6 )
Gene Full Name: proprotein convertase subtilisin/kexin type 5
Band: 9q21.13
Quick LinksEntrez ID:5125; OMIM: 600488; Uniprot ID:PCSK5_HUMAN; ENSEMBL ID: ENSG00000099139; HGNC ID: 8747
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCSK5|5125|nucleotide
ATGGGCTGGGGGAGCCGCTGCTGCTGCCCGGGACGTTTGGACCTGCTGTGCGTGCTGGCGCTGCTCGGGGGCTGCCTGCTCCCCGTGTGTCGGACGCGCGTCTAC
ACCAACCACTGGGCAGTCAAAATCGCCGGGGGCTTCCCGGAGGCCAACCGTATCGCCAGCAAGTACGGATTCATCAACATAGGACAGATAGGGGCCCTGAAGGAC
TACTACCACTTCTACCATAGCAGGACGATTAAAAGGTCAGTTATCTCGAGCAGAGGGACCCACAGTTTCATTTCAATGGAACCAAAGGTGGAATGGATCCAACAG
CAAGTGGTAAAAAAGCGGACAAAGAGGGATTATGACTTCAGTCGTGCCCAGTCTACCTATTTCAATGATCCCAAGTGGCCCAGCATGTGGTATATGCACTGCAGT
GACAATACACATCCCTGCCAGTCTGACATGAATATCGAAGGAGCCTGGAAGAGAGGCTACACGGGAAAGAACATTGTGGTCACTATCCTGGATGACGGAATTGAG
AGAACCCATCCAGATCTGATGCAAAACTACGATGCTCTGGCAAGTTGCGACGTGAATGGGAATGACTTGGACCCAATGCCTCGTTATGATGCAAGCAACGAGAAC
AAGCATGGGACTCGCTGTGCTGGAGAAGTGGCAGCCGCTGCAAACAATTCGCACTGCACAGTCGGAATTGCTTTCAACGCCAAGATCGGAGGAGTGCGAATGCTG
GACGGAGATGTCACGGACATGGTTGAAGCAAAATCAGTTAGCTTCAACCCCCAGCACGTGCACATTTACAGCGCCAGCTGGGGCCCGGATGATGATGGCAAGACT
GTGGACGGACCAGCCCCCCTCACCCGGCAAGCCTTTGAAAACGGCGTTAGAATGGGGCGGAGAGGCCTCGGCTCTGTGTTTGTTTGGGCATCTGGAAATGGTGGA
AGGAGCAAAGACCACTGCTCCTGTGATGGCTACACCAACAGCATCTACACCATCTCCATCAGCAGCACTGCAGAAAGCGGAAAGAAACCTTGGTACCTGGAAGAG
TGTTCATCCACGCTGGCCACAACCTACAGCAGCGGGGAGTCCTACGATAAGAAAATCATCACTACAGATCTGAGGCAGCGTTGCACGGACAACCACACTGGGACG
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>PCSK5|5125|protein
MGWGSRCCCPGRLDLLCVLALLGGCLLPVCRTRVYTNHWAVKIAGGFPEANRIASKYGFINIGQIGALKDYYHFYHSRTIKRSVISSRGTHSFISMEPKVEWIQQ
QVVKKRTKRDYDFSRAQSTYFNDPKWPSMWYMHCSDNTHPCQSDMNIEGAWKRGYTGKNIVVTILDDGIERTHPDLMQNYDALASCDVNGNDLDPMPRYDASNEN
KHGTRCAGEVAAAANNSHCTVGIAFNAKIGGVRMLDGDVTDMVEAKSVSFNPQHVHIYSASWGPDDDGKTVDGPAPLTRQAFENGVRMGRRGLGSVFVWASGNGG
RSKDHCSCDGYTNSIYTISISSTAESGKKPWYLEECSSTLATTYSSGESYDKKIITTDLRQRCTDNHTGTSASAPMAAGIIALALEANPFLTWRDVQHVIVRTSR
AGHLNANDWKTNAAGFKVSHLYGFGLMDAEAMVMEAEKWTTVPRQHVCVESTDRQIKTIRPNSAVRSIYKASGCSDNPNRHVNYLEHVVVRITITHPRRGDLAIY
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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) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top