AutismKB 2.0

Evidence Details for PKD1L2


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Basic Information Top
Gene Symbol:PKD1L2 ( DKFZp686J19100,FLJ45333,PC1L2 )
Gene Full Name: polycystic kidney disease 1-like 2
Band: 16q23.2
Quick LinksEntrez ID:114780; OMIM: 607894; Uniprot ID:PK1L2_HUMAN; ENSEMBL ID: ENSG00000166473; HGNC ID: 21715
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PKD1L2|114780|nucleotide
ATGAGTGCAGTGGGCTTGGTACTCCTGGTGCTTGCTCTGAGGCTTAGGGCCACCACTGTTAAGCCAGAGGAAGGCAGCTTTTGCTCTAACAGCCAGGTGGCCTTC
AGAGATGCTTGCTATGAATTTGTGCCACTCGGACGCACCTTCCGTGATGCCCAGAGCTGGTGCGAGGGGCAAGGAGGCCATTTGGTCTTCATTCAGGACGAAGGC
ACCCAGTGGTTTCTGCAGAAGCACATCTCCCAGGACAGGGAATGGTGGATTGGACTCACGTGGAACTTGGCACGGAATGGAACCACGGAGGGGCCGGGGACTTGG
TTGGACACCTCCAATGTGACCTACAGCAACTGGCATGGAGGGCAGGCCGCCGCTGCCCCTGACACCTGCGGCCACATCGGGAGAGGCCCTTCCTCTGAGTGGGTG
ACCTCGGACTGCGCCCAGACCTTCGCCTTCATGTGCGAGTTCCGGGTTGGCCAGAGCCTGGCCTGCGAGGGACTCAATGCCACCGTGCACTGTGGCTTGGGGCAG
GTCATCCAGGTCCAGGATGCCGTCTACGGGCGCCAGAATCCCCATTTCTGCACCCAGGATGCCGGGCGTCCTTCAGATCTGGAGCAGGGATGCAGCTGGGCCAAC
GTCAAGGAGGAGGTGGCAGGCCAGTGCCAGGAGCTACAGTCATGCCAGGTGGCAGCAGATGAGACCTACTTTGGAAACCTGTGTCCGACTCAGGGCAGTTACCTG
TGGGTGCAGTACCAGTGCCGGGAAGCCCTGCAGCTGATGGTGTCCAGTGAGAGTTTCATCTTTGACAATGTCACCATCTCCCTGACGTGGCTCCTCTCACCCTAC
ATAGGAAACCTGTCCTGTATAATTAGTACAGGAGACAGCCACACTTTTGATCCCTACAACCCGCCGAGTGTGTCCAGCAATGTGACCCACCAGTTCACATCTCCT
GGGGAATTCACCGTGTTTGCTGAATGCACAACCAGTGAGTGGCATGTGACAGCTCAGAGGCAGGTGACCGTGCGAGACAAGATGGAGACGCTCAGTGTGACTGCA
TGCTCCGGCCTGTCCCAGTCAGGAGCCGGCCCTCTCTGCCAGGCTGTCTTTGGGGATCCTCTGTGGATTCAGGTGGAGCTTGATGGAGGAACAGGAGTGACTTAC
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>PKD1L2|114780|protein
MSAVGLVLLVLALRLRATTVKPEEGSFCSNSQVAFRDACYEFVPLGRTFRDAQSWCEGQGGHLVFIQDEGTQWFLQKHISQDREWWIGLTWNLARNGTTEGPGTW
LDTSNVTYSNWHGGQAAAAPDTCGHIGRGPSSEWVTSDCAQTFAFMCEFRVGQSLACEGLNATVHCGLGQVIQVQDAVYGRQNPHFCTQDAGRPSDLEQGCSWAN
VKEEVAGQCQELQSCQVAADETYFGNLCPTQGSYLWVQYQCREALQLMVSSESFIFDNVTISLTWLLSPYIGNLSCIISTGDSHTFDPYNPPSVSSNVTHQFTSP
GEFTVFAECTTSEWHVTAQRQVTVRDKMETLSVTACSGLSQSGAGPLCQAVFGDPLWIQVELDGGTGVTYTVLLGDITLAESTTQKGSLPYNLILDRETQKLMGP
GRHRLEIQATGNTTTSTISRNITVHLVELLSGLQASWASDHLELGQDLLITISLAQGTPEELTFEVAGLNATFSHEQVSFGEPFGICRLAVPVEGTFLVTMLVRN
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top