AutismKB 2.0

Evidence Details for PDLIM5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDLIM5 ( ENH,ENH1,LIM )
Gene Full Name: PDZ and LIM domain 5
Band: 4q22.3
Quick LinksEntrez ID:10611; OMIM: 605904; Uniprot ID:PDLI5_HUMAN; ENSEMBL ID: ENSG00000163110; HGNC ID: 17468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDLIM5|10611|nucleotide
ATGAGCAACTACAGTGTGTCACTGGTTGGCCCAGCTCCTTGGGGTTTCCGGCTGCAGGGCGGTAAGGATTTCAACATGCCTCTGACAATCTCTAGTCTAAAAGAT
GGCGGCAAGGCAGCCCAGGCAAATGTAAGAATAGGCGATGTGGTTCTCAGCATTGATGGAATAAATGCACAAGGAATGACTCATCTTGAAGCCCAGAATAAGATT
AAGGGTTGTACAGGCTCTTTGAATATGACTCTGCAAAGAGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCAAAAGCCCACAGTCACCAGCGTGTGTTCC
GAGACTTCTCAGGAGCTAGCAGAGGGACAGAGAAGAGGATCCCAGGGTGACAGTAAACAGCAAAATGGCCCACCAAGAAAACACATTGTGGAGCGCTATACAGAG
TTTTATCATGTACCCACTCACAGTGATGCCAGCAAGAAGAGACTGATTGAGGATACTGAAGACTGGCGTCCAAGGACTGGAACAACTCAGTCTCGCTCTTTCCGA
ATCCTTGCCCAGATCACTGGGACTGAACATTTGAAAGAATCTGAAGCCGATAATACAAAGAAGGCAAATAACTCTCAGGAGCCTTCTCCGCAGTTGGCTTCCTCG
GTAGCTTCCACACGGAGCATGCCCGAGAGCCTGGACAGCCCAACCTCTGGCAGACCAGGGGTTACCAGCCTCACAGCTGCAGCTGCCTTCAAGCCTGTAGGATCC
ACTGGCGTCATCAAGTCACCAAGCTGGCAACGGCCAAACCAAGGAGTACCTTCCACTGGAAGAATCTCAAACAGCGCTACTTACTCAGGATCAGTGGCACCAGCC
AACTCAGCTTTGGGACAAACCCAGCCAAGTGACCAGGACACTTTAGTGCAAAGAGCTGAGCACATTCCAGCAGGGAAACGAACTCCGATGTGCGCCCATTGTAAC
CAGGTCATCAGAGGACCATTCTTAGTGGCACTGGGGAAATCTTGGCACCCAGAAGAATTCAACTGCGCTCACTGCAAAAATACAATGGCCTACATTGGATTTGTA
GAGGAGAAAGGAGCCCTGTATTGTGAGCTGTGCTATGAGAAATTCTTTGCCCCTGAATGTGGTCGATGCCAAAGGAAGATCCTTGGAGAAGTCATCAGTGCGTTG
Show »

>PDLIM5|10611|protein
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMTLQRASAAPKPEPVPVQKPTVTSVCS
ETSQELAEGQRRGSQGDSKQQNGPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKANNSQEPSPQLASS
VASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCN
QVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETD
YYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (1) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 4 (6)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top