AutismKB 2.0

Evidence Details for PDLIM2


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Basic Information Top
Gene Symbol:PDLIM2 ( FLJ34715,MYSTIQUE,SLIM )
Gene Full Name: PDZ and LIM domain 2 (mystique)
Band: 8p21.3
Quick LinksEntrez ID:64236; OMIM: 609722; Uniprot ID:PDLI2_HUMAN; ENSEMBL ID: ENSG00000120913; HGNC ID: 13992
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDLIM2|64236|nucleotide
ATGCGGGGCGGGAGAGCGCGGCCGGCGTGGGAGAGCTTTATGGGGCTGCCCCCTCGATCGTCTGCGAAGTGGGGCGCGGGGCAGTCCCTGGACCGGCTCTGCTGT
GCTCCGGGCAGTCGGGGGCTTGCGGGCGCTCCGGGGAGGATGCGGGCACCACCGGCTGGACGGTCGCAGCCTGCAGGGGGCCCTGGGGACAGCCTGCCTCATCCC
CCCGGCGGGCTCGGGCCAGGTGGCAGCGCCTGGGCTCGCCGCGCGGAGGCGGCGGCTTCTCGGGCTAGGGGCGGCGGCAGGGGCGGCCCCGGGATCACATGGGCG
GAGGCAGGTCCGGGAGCCCCGGGCGGGCTCTCCCCAGAGTCGGGTAGACGGCAGCGGGAGCGGTGGCGTCTCCCCGCCTTCCCTCCCTCCCGGGCCTGGGCGCCC
AGCCGGACAGGTGAGCGGCAGCCAGGTGAGCGCGCCCACCTGCGCCTCTCCGCGCGGCCCGCCCTCCCCGGCGCCGGGCTCCTCTCCGCGCCCCTGTCGGCGCGG
AACCCTGGCCTCGTCCGCGGCCCAGCTCCCTGGAGCCTCGCATCAGCGGGGGCGCCCCCGCGAGCTGCGCTCTCCCCGGCCGGAGCGCTCCTCCTCCAGCCCCCA
GCCCGCAGGGTACTTTGCCCTCGGAGCGAAGGAGGCTCCAGAACTGGTAGAGCCGGGCCATCGGGCTGGGCACCTCCCCGCGGCGCCCGCAGCGCGGAGTCCACT
GACCGGCTCAAAGGTATGGCGTTGACGGTGGATGTGGCCGGGCCAGCGCCCTGGGGCTTCCGTATCACAGGGGGCAGGGATTTCCACACGCCCATCATGGTGACT
AAGGTGGCCGAGCGGGGCAAAGCCAAGGACGCTGACCTCCGGCCTGGAGACATAATCGTGGCCATCAACGGGGAAAGCGCGGAGGGCATGCTGCATGCCGAGGCC
CAGAGCAAGATCCGCCAGAGCCCCTCGCCCCTGCGGCTGCAGCTGGACCGGTCTCAGGCTACGTCTCCAGGGCAGACCAATGGGGACAGCTCCTTGGAAGTGCTG
GCGACTCGCTTCCAGGGCTCCGTGAGGACATACACTGAGAGTCAGTCCTCCTTAAGGTCCTCCTACTCCAGCCCAACCTCCCTCAGCCCGAGGGCCGGCAGCCCC
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>PDLIM2|64236|protein
MRGGRARPAWESFMGLPPRSSAKWGAGQSLDRLCCAPGSRGLAGAPGRMRAPPAGRSQPAGGPGDSLPHPPGGLGPGGSAWARRAEAAASRARGGGRGGPGITWA
EAGPGAPGGLSPESGRRQRERWRLPAFPPSRAWAPSRTGERQPGERAHLRLSARPALPGAGLLSAPLSARNPGLVRGPAPWSLASAGAPPRAALSPAGALLLQPP
ARRVLCPRSEGGSRTGRAGPSGWAPPRGARSAESTDRLKGMALTVDVAGPAPWGFRITGGRDFHTPIMVTKVAERGKAKDADLRPGDIIVAINGESAEGMLHAEA
QSKIRQSPSPLRLQLDRSQATSPGQTNGDSSLEVLATRFQGSVRTYTESQSSLRSSYSSPTSLSPRAGSPFSPPPSSSSLTGEAAISRSFQSLACSPGLPAADRL
SYSGRPGSRQAGLGRAGDSAVLVLPPSPGPRSSRPSMDSEGGSLLLDEDSEVFKMLQENREGRAAPRQSSSFRLLQEALEAEERGGTPAFLPSSLSPQSSLPASR
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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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top