AutismKB 2.0

Evidence Details for PSMD8


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Basic Information Top
Gene Symbol:PSMD8 ( HIP6,HYPF,MGC1660,Nin1p,Rpn12,S14,p31 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
Band: 19q13.2
Quick LinksEntrez ID:5714; OMIM: NA; Uniprot ID:PSMD8_HUMAN; ENSEMBL ID: ENSG00000099341; HGNC ID: 9566
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSMD8|5714|nucleotide
ATGTTCATTAAGGGCAGGGCTCCGAGGGCGCCACCTCGAGAGCGACGGCGGGCTACCCGGGGCGGGCTGAGGCAGGTTGTAGCCCCGCCCCGGGCCTTGGGCTCC
ACCTCTCGGCCCCACTTCCGCCGGGCAAGCGTTTGTAGGCGGCGCTGCCGTAAATCAGGCGGTCTGCTTGCCGCATCACGCAAGATGGCGGCCGCGGCGGTGAAC
GGGGCGGCAGGCTTCTCGAGCTCCGGGCCCGCGGCAACCTCGGGCGCTGTTCTGCAGGCCGCGACCGGCATGTACGAGCAACTCAAGGGCGAGTGGAACCGTAAA
AGCCCCAATCTTAGCAAGTGCGGGGAAGAGCTGGGTCGACTCAAGCTAGTTCTTCTGGAGCTCAACTTCTTGCCAACCACAGGGACCAAGCTGACCAAACAGCAG
CTAATTCTGGCCCGTGACATACTGGAGATCGGGGCCCAATGGAGCATCCTACGCAAGGACATCCCCTCCTTCGAGCGCTACATGGCCCAGCTCAAATGCTACTAC
TTTGATTACAAGGAGCAGCTCCCCGAGTCAGCCTATATGCACCAGCTCTTGGGCCTCAACCTCCTCTTCCTGCTGTCCCAGAACCGGGTGGCTGAGTTCCACACG
GAGTTGGAGCGGCTGCCTGCCAAGGACATACAGACCAATGTCTACATCAAGCACCCAGTGTCCCTGGAGCAATACCTGATGGAGGGCAGCTACAACAAAGTGTTC
CTGGCCAAGGGTAACATCCCCGCCGAGAGCTACACCTTCTTCATTGACATCCTGCTCGACACTATCAGGGATGAGATCGCTGGGTGCATCGAGAAGGCCTACGAG
AAAATCCTTTTCACTGAGGCCACCCGGATCCTCTTCTTCAACACACCCAAAAAGATGACAGACTACGCCAAGAAGCGAGGGTGGGTCCTGGGCCCCAACAACTAC
TACAGTTTTGCCAGCCAGCAGCAGAAGCCGGAAGACACCACCATTCCCTCCACAGAACTGGCCAAACAGGTCATCGAGTATGCCCGGCAGCTGGAGATGATCGTC
TGA
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>PSMD8|5714|protein
MFIKGRAPRAPPRERRRATRGGLRQVVAPPRALGSTSRPHFRRASVCRRRCRKSGGLLAASRKMAAAAVNGAAGFSSSGPAATSGAVLQAATGMYEQLKGEWNRK
SPNLSKCGEELGRLKLVLLELNFLPTTGTKLTKQQLILARDILEIGAQWSILRKDIPSFERYMAQLKCYYFDYKEQLPESAYMHQLLGLNLLFLLSQNRVAEFHT
ELERLPAKDIQTNVYIKHPVSLEQYLMEGSYNKVFLAKGNIPAESYTFFIDILLDTIRDEIAGCIEKAYEKILFTEATRILFFNTPKKMTDYAKKRGWVLGPNNY
YSFASQQQKPEDTTIPSTELAKQVIEYARQLEMIV

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (3)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top