AutismKB 2.0

Evidence Details for PSMD3


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Basic Information Top
Gene Symbol:PSMD3 ( P58,RPN3,S3,TSTA2 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 3
Band: 17q21.1
Quick LinksEntrez ID:5709; OMIM: NA; Uniprot ID:PSMD3_HUMAN; ENSEMBL ID: ENSG00000108344; HGNC ID: 9560
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSMD3|5709|nucleotide
ATGAAGCAGGAGGGCTCGGCGCGGCGCCGCGGCGCGGACAAGGCGAAACCGCCGCCCGGCGGAGGAGAACAAGAACCCCCACCGCCGCCGGCCCCCCAGGATGTG
GAGATGAAAGAGGAGGCAGCGACGGGTGGCGGGTCGACGGGGGAGGCAGACGGCAAGACGGCGGCGGCAGCGGCTGAGCACTCCCAGCGAGAGCTGGACACAGTC
ACCTTGGAGGACATCAAGGAGCACGTGAAACAGCTAGAGAAAGCGGTTTCAGGCAAGGAGCCGAGATTCGTGCTGCGGGCCCTGCGGATGCTGCCTTCCACATCA
CGCCGCCTCAACCACTATGTTCTGTATAAGGCTGTGCAGGGCTTCTTCACTTCAAATAATGCCACTCGAGACTTTTTGCTCCCCTTCCTGGAAGAGCCCATGGAC
ACAGAGGCTGATTTACAGTTCCGTCCCCGCACGGGAAAAGCTGCGTCGACACCCCTCCTGCCTGAAGTGGAAGCCTATCTCCAACTCCTCGTGGTCATCTTCATG
ATGAACAGCAAGCGCTACAAAGAGGCACAGAAGATCTCTGATGATCTGATGCAGAAGATCAGTACTCAGAACCGCCGGGCCCTAGACCTTGTAGCCGCAAAGTGT
TACTATTATCACGCCCGGGTCTATGAGTTCCTGGACAAGCTGGATGTGGTGCGCAGCTTCTTGCATGCTCGGCTCCGGACAGCTACGCTTCGGCATGACGCAGAC
GGGCAGGCCACCCTGTTGAACCTCCTGCTGCGGAATTACCTACACTACAGCTTGTACGACCAGGCTGAGAAGCTGGTGTCCAAGTCTGTGTTCCCAGAGCAGGCC
AACAACAATGAGTGGGCCAGGTACCTCTACTACACAGGGCGAATCAAAGCCATCCAGCTGGAGTACTCAGAGGCCCGGAGAACGATGACCAACGCCCTTCGCAAG
GCCCCTCAGCACACAGCTGTCGGCTTCAAACAGACGGTGCACAAGCTTCTCATCGTGGTGGAGCTGTTGCTGGGGGAGATCCCTGACCGGCTGCAGTTCCGCCAG
CCCTCCCTCAAGCGCTCACTCATGCCCTATTTCCTTCTGACTCAAGCTGTCAGGACAGGAAACCTAGCCAAGTTCAACCAGGTCCTGGATCAGTTTGGGGAGAAG
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>PSMD3|5709|protein
MKQEGSARRRGADKAKPPPGGGEQEPPPPPAPQDVEMKEEAATGGGSTGEADGKTAAAAAEHSQRELDTVTLEDIKEHVKQLEKAVSGKEPRFVLRALRMLPSTS
RRLNHYVLYKAVQGFFTSNNATRDFLLPFLEEPMDTEADLQFRPRTGKAASTPLLPEVEAYLQLLVVIFMMNSKRYKEAQKISDDLMQKISTQNRRALDLVAAKC
YYYHARVYEFLDKLDVVRSFLHARLRTATLRHDADGQATLLNLLLRNYLHYSLYDQAEKLVSKSVFPEQANNNEWARYLYYTGRIKAIQLEYSEARRTMTNALRK
APQHTAVGFKQTVHKLLIVVELLLGEIPDRLQFRQPSLKRSLMPYFLLTQAVRTGNLAKFNQVLDQFGEKFQADGTYTLIIRLRHNVIKTGVRMISLSYSRISLA
DIAQKLQLDSPEDAEFIVAKAIRDGVIEASINHEKGYVQSKEMIDIYSTREPQLAFHQRISFCLDIHNMSVKAMRFPPKSYNKDLESAEERREREQQDLEFAKEM
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top