AutismKB 2.0

Evidence Details for PDZD2


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Basic Information Top
Gene Symbol:PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 )
Gene Full Name: PDZ domain containing 2
Band: 5p13.3
Quick LinksEntrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDZD2|23037|nucleotide
ATGCCCATCACCCAGGACAATGCCGTGCTGCACCTGCCCCTCCTCTACCAGTGGCTGCAGAACAGCCTGCAGGAAGGTGGGGATGGGCCGGAGCAGCGGCTCTGC
CAGGCGGCCATCCAGAAGCTGCAGGAGTACATCCAGCTGAACTTTGCTGTGGATGAGAGTACGGTCCCACCTGATCACAGCCCCCCCGAAATGGAGATCTGTACT
GTGTACCTCACCAAGGAGCTGGGGGACACAGAGACTGTGGGCCTGAGTTTTGGGAACATCCCTGTTTTCGGGGACTATGGTGAAAAGCGCAGGGGGGGCAAGAAG
AGGAAAACCCACCAGGGTCCTGTGCTGGATGTGGGCTGCATCTGGGTGACAGAGCTGAGGAAGAACAGCCCAGCAGGGAAGAGTGGGAAGGTCCGACTGCGGGAT
GAGATCCTCTCACTGAATGGGCAGCTGATGGTTGGAGTTGATGTCAGTGGGGCCAGTTACCTGGCTGAGCAGTGCTGGAATGGCGGCTTTATCTACCTGATCATG
CTGCGTCGCTTTAAGCACAAAGCCCACTCCACTTATAATGGCAACAGTAGCAACAGCTCTGAACCAGGAGAAACACCTACCTTGGAGCTGGGTGACCGAACTGCG
AAAAAGGGGAAACGAACCAGAAAGTTTGGGGTCATCTCCAGGCCTCCTGCCAACAAGGCCCCTGAAGAATCCAAGGGCAGCGCTGGCTGTGAGGTGTCCAGTGAC
CCCAGCACTGAGCTGGAGAACGGCCCTGACCCTGAACTTGGAAACGGCCATGTCTTTCAGCTAGAAAATGGCCCAGATTCTCTCAAGGAGGTGGCTGGACCCCAT
CTAGAGAGGTCAGAAGTGGACAGAGGGACAGAGCATAGAATTCCAAAGACAGATGCTCCTCTGACCACAAGCAATGACAAACGCCGCTTCTCAAAAGGTGGGAAG
ACGGACTTCCAATCGAGTGACTGCCTGGCACGGGAGGAAGTTGGCCGAATATGGAAGATGGAGCTGCTCAAAGAATCGGATGGGCTGGGAATTCAGGTTAGTGGA
GGCCGAGGATCAAAGCGCTCACCTCACGCTATCGTTGTCACTCAAGTGAAGGAAGGAGGTGCCGCTCACAGGGATGGCAGGCTGTCCTTAGGAGATGAGCTGCTG
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>PDZD2|23037|protein
MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKK
RKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTA
KKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGK
TDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKEN
SAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVCGAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top