AutismKB 2.0

Evidence Details for PCSK1


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Basic Information Top
Gene Symbol:PCSK1 ( BMIQ12,NEC1,PC1,PC3,SPC3 )
Gene Full Name: proprotein convertase subtilisin/kexin type 1
Band: 5q15
Quick LinksEntrez ID:5122; OMIM: 162150; Uniprot ID:NEC1_HUMAN; ENSEMBL ID: ENSG00000175426; HGNC ID: 8743
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCSK1|5122|nucleotide
ATGGAGCGAAGAGCCTGGAGTCTGCAGTGCACTGCTTTCGTCCTCTTTTGCGCTTGGTGTGCACTGAACAGTGCAAAAGCGAAAAGGCAATTTGTCAATGAATGG
GCAGCGGAGATCCCCGGGGGCCCGGAAGCAGCCTCGGCCATCGCCGAGGAGCTGGGCTATGACCTTTTGGGTCAGATTGGTTCACTTGAAAATCACTACTTATTC
AAACATAAAAACCACCCCAGAAGGTCTCGAAGGAGTGCCTTTCATATCACTAAGAGATTATCTGATGATGATCGTGTGATATGGGCTGAACAACAGTATGAAAAA
GAAAGAAGTAAACGTTCAGCTCTAAGGGACTCAGCACTAAATCTCTTCAATGATCCCATGTGGAATCAGCAATGGTACTTGCAAGATACCAGGATGACGGCAGCC
CTGCCCAAGCTGGACCTTCATGTGATACCTGTTTGGCAAAAAGGCATTACGGGCAAAGGAGTTGTTATCACCGTACTGGATGATGGTTTGGAGTGGAATCACACG
GACATTTATGCCAACTATGATCCAGAGGCTAGCTATGATTTTAATGATAATGACCATGATCCATTTCCCCGATATGATCCCACAAACGAGAACAAACACGGGACC
AGATGTGCAGGAGAAATTGCCATGCAAGCAAATAATCACAAATGCGGGGTTGGAGTTGCATACAATTCCAAAGTTGGAGGCATAAGAATGCTGGATGGCATTGTG
ACGGATGCTATTGAGGCCAGTTCAATTGGATTCAATCCTGGACACGTGGATATTTACAGTGCAAGCTGGGGCCCTAATGATGATGGGAAAACTGTGGAGGGGCCT
GGCCGGCTAGCCCAGAAGGCTTTTGAATATGGTGTCAAACAGGGGAGACAGGGGAAGGGGTCCATCTTCGTCTGGGCTTCGGGAAACGGGGGGCGTCAGGGAGAT
AATTGTGACTGTGATGGCTACACAGACAGCATCTACACCATCTCCATCAGCAGTGCCTCCCAGCAAGGCCTATCCCCCTGGTACGCTGAGAAGTGCTCCTCCACA
CTGGCCACCTCTTACAGCAGCGGAGATTACACCGACCAGAGAATCACGAGCGCTGACCTGCACAATGACTGCACGGAGACGCACACAGGCACCTCGGCCTCTGCA
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>PCSK1|5122|protein
MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQIGSLENHYLFKHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYEK
ERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAALPKLDLHVIPVWQKGITGKGVVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGT
RCAGEIAMQANNHKCGVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGVKQGRQGKGSIFVWASGNGGRQGD
NCDCDGYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDYTDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPL
ANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTWRSVPEKKECVVKDNDFEPRALKANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTL
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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 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top