AutismKB 2.0

Evidence Details for KIAA1543


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Basic Information Top
Gene Symbol:KIAA1543 ( NEZHA )
Gene Full Name: KIAA1543
Band: 19p13.2
Quick LinksEntrez ID:57662; OMIM: 612685; Uniprot ID:CAMP3_HUMAN; ENSEMBL ID: ENSG00000076826; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1543|57662|nucleotide
ATGGTGGAGGCGGCGCCCCCCGGGCCCGGGCCGCTGCGGAGGACCTTTCTAGTGCCCGAGATCAAGTCGCTGGACCAGTACGATTTCTCGCGGGCCAAGGCGGCG
GCCAGCCTGGCGTGGGTGCTGCGGGCCGCGTTCGGGGGCGCAGAGCACGTGCCCCCGGAGCTGTGGGAGCCCTTCTATACCGACCAGTACGCGCAGGAGCATGTG
AAGCCCCCGGTGACACGGCTGCTGCTCTCAGCCGAGCTCTACTGCAGAGCCTGGCGCCAGGCACTGCCACAGCTTGAAACACCCCCCAACCCCTCTGCACTGCTG
GCCCTGCTGGCGCGGAGGGGCACAGTGCCTGCTTTGCCCGAGCGCCCGGTGCGCGAGGCCGACCTGAGGCACCAGCCCATTCTCATGGGAGCCCACCTAGCTGTC
ATTGATGCCCTCATGGCTGCCTTTGCCTTCGAGTGGACAAAGACCCTGCCAGGTCCCTTGGCCCTGACCAGCTTGGAGCACAAGCTGCTTTTCTGGGTGGACACG
ACCGTCCGGCGGCTGCAGGAGAAGACCGAGCAGGAAGCGGCCCAGCGAGCCTCTCCAGCAGCCCCTGCAGACGGGGCGGCCCCGGCGCAGCCCTCGTGCCCTACG
CGCTGGTACTGGAAGCTGGTTCCTCACGCAATTGCCTTCTGTTTGAAGGAGTCGGGGAGCAAACCCCCCATGATCCGATACCGCAAGGACCGTGTGGTGGCGCGA
CGTGCCCCCTGCTTCCCGACGGTGACCAGCCTCCAGGACCTGGCCAGTGGGGCCGCGCTGGCCGCCACCATCCACTGCTATTGTCCCCAGCTGCTTCGACTTGAG
GAGGTGTGCTTGAAGGACCCCATGTCTGTGGCGGACAGCCTGTACAACCTCCAGCTCGTGCAGGATTTCTGTGCCTCTCGCCTTCCTCGTGGCTGCCCCCTGTCC
CTTGAGGACTTGCTGTACGTCCCACCGCCACTCAAGGTCAACTTGGTGGTGATGCTGGCCGAGTTGTTCATGTGTTTTGAGGTGCTCAAGCCCGACTTTGTGCAA
GTGAAGGACTTGCCCGATGGTCACGCTGCCTCCCCCCGGGGCACTGAGGCCTCCCCACCTCAGAACAACAGCGGCAGTAGTTCTCCTGTCTTCACCTTCCGCCAC
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>KIAA1543|57662|protein
MVEAAPPGPGPLRRTFLVPEIKSLDQYDFSRAKAAASLAWVLRAAFGGAEHVPPELWEPFYTDQYAQEHVKPPVTRLLLSAELYCRAWRQALPQLETPPNPSALL
ALLARRGTVPALPERPVREADLRHQPILMGAHLAVIDALMAAFAFEWTKTLPGPLALTSLEHKLLFWVDTTVRRLQEKTEQEAAQRASPAAPADGAAPAQPSCPT
RWYWKLVPHAIAFCLKESGSKPPMIRYRKDRVVARRAPCFPTVTSLQDLASGAALAATIHCYCPQLLRLEEVCLKDPMSVADSLYNLQLVQDFCASRLPRGCPLS
LEDLLYVPPPLKVNLVVMLAELFMCFEVLKPDFVQVKDLPDGHAASPRGTEASPPQNNSGSSSPVFTFRHPLLSSGGPQSPLRGSTGSLKSSPSMSHMEALGKAW
NRQLSRPLSQAVSFSTPFGLDSDVDVVMGDPVLLRSVSSDSLGPPRPAPARTPTQPPPEPGDLPTIEEALQIIHSAEPRLLPDGAADGSFYLHSPEGPSKPSLAS
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top