AutismKB 2.0

Evidence Details for PACSIN1


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Basic Information Top
Gene Symbol:PACSIN1 ( KIAA1379,SDPI )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 1
Band: 6p21.3
Quick LinksEntrez ID:29993; OMIM: 606512; Uniprot ID:PACN1_HUMAN; ENSEMBL ID: ENSG00000124507; HGNC ID: 8570
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PACSIN1|29993|nucleotide
ATGTCCAGCTCCTACGATGAGGCCTCACTGGCGCCAGAGGAGACCACCGACAGCTTCTGGGAGGTGGGGAACTACAAGCGGACCGTGAAGCGCATCGATGACGGC
CACCGTCTATGCAACGACCTGATGAACTGCGTGCAGGAGCGCGCCAAGATCGAGAAGGCGTACGGGCAGCAGCTCACCGACTGGGCCAAGCGTTGGCGCCAGCTC
ATCGAGAAAGGCCCACAGTATGGCAGCCTGGAGCGGGCCTGGGGTGCCATAATGACAGAGGCAGACAAGGTGAGCGAGCTGCACCAGGAGGTGAAGAACAATCTG
CTGAATGAGGACCTGGAGAAGGTGAAGAACTGGCAGAAGGACGCCTATCACAAGCAGATCATGGGTGGCTTCAAGGAGACGAAGGAGGCTGAAGATGGCTTCCGC
AAGGCCCAGAAGCCTTGGGCCAAGAAGATGAAGGAGCTGGAGGCAGCCAAGAAGGCCTACCATTTGGCTTGCAAAGAGGAAAAGCTGGCCATGACACGGGAGATG
AACAGCAAGACGGAGCAATCGGTCACACCTGAGCAGCAAAAGAAGCTGCAGGACAAAGTGGACAAGTGCAAGCAGGATGTGCAGAAGACACAGGAGAAGTATGAG
AAAGTGCTGGAAGATGTGGGCAAGACCACACCCCAGTACATGGAGAACATGGAGCAGGTGTTTGAGCAATGCCAGCAATTTGAGGAAAAGCGGCTGGTCTTCCTC
AAGGAGGTGCTGCTGGACATCAAACGGCACCTCAACCTGGCTGAGAACAGCAGCTACATCCATGTGTACCGTGAGCTGGAGCAGGCCATCCGGGGGGCTGATGCC
CAGGAAGACCTCAGATGGTTCCGCAGCACCAGTGGCCCCGGCATGCCCATGAACTGGCCCCAGTTTGAGGAGTGGAACCCAGACCTTCCTCACACCACCACCAAG
AAGGAGAAACAGCCTAAGAAGGCAGAGGGAGTGGCGCTGACCAATGCCACTGGGGCGGTAGAGTCCACATCCCAGGCTGGGGACCGCGGCAGTGTTAGCAGCTAC
GACAGAGGCCAGCCCTACGCCACCGAGTGGTCAGACGACGAGAGTGGGAACCCCTTTGGGGGCAGTGAGACCAACGGGGGCGCCAACCCCTTTGAGGACGACTCC
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>PACSIN1|29993|protein
MSSSYDEASLAPEETTDSFWEVGNYKRTVKRIDDGHRLCNDLMNCVQERAKIEKAYGQQLTDWAKRWRQLIEKGPQYGSLERAWGAIMTEADKVSELHQEVKNNL
LNEDLEKVKNWQKDAYHKQIMGGFKETKEAEDGFRKAQKPWAKKMKELEAAKKAYHLACKEEKLAMTREMNSKTEQSVTPEQQKKLQDKVDKCKQDVQKTQEKYE
KVLEDVGKTTPQYMENMEQVFEQCQQFEEKRLVFLKEVLLDIKRHLNLAENSSYIHVYRELEQAIRGADAQEDLRWFRSTSGPGMPMNWPQFEEWNPDLPHTTTK
KEKQPKKAEGVALTNATGAVESTSQAGDRGSVSSYDRGQPYATEWSDDESGNPFGGSETNGGANPFEDDSKGVRVRALYDYDGQEQDELSFKAGDELTKLGEEDE
QGWCRGRLDSGQLGLYPANYVEAI
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top