AutismKB 2.0

Evidence Details for PSMB4


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Basic Information Top
Gene Symbol:PSMB4 ( HN3,HsN3,PROS-26,PROS26 )
Gene Full Name: proteasome (prosome, macropain) subunit, beta type, 4
Band: 1q21.3
Quick LinksEntrez ID:5692; OMIM: 602177; Uniprot ID:PSB4_HUMAN; ENSEMBL ID: ENSG00000159377; HGNC ID: 9541
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSMB4|5692|nucleotide
ATGGAAGCGTTTTTGGGGTCGCGGTCCGGACTTTGGGCGGGGGGTCCGGCCCCAGGACAGTTTTACCGCATTCCGTCCACTCCCGATTCCTTCATGGATCCGGCG
TCTGCACTTTACAGAGGTCCAATCACGCGGACCCAGAACCCCATGGTGACCGGGACCTCAGTCCTCGGCGTTAAGTTCGAGGGCGGAGTGGTGATTGCCGCAGAC
ATGCTGGGATCCTACGGCTCCTTGGCTCGTTTCCGCAACATCTCTCGCATTATGCGAGTCAACAACAGTACCATGCTGGGTGCCTCTGGCGACTACGCTGATTTC
CAGTATTTGAAGCAAGTTCTCGGCCAGATGGTGATTGATGAGGAGCTTCTGGGAGATGGACACAGCTATAGTCCTAGAGCTATTCATTCATGGCTGACCAGGGCC
ATGTACAGCCGGCGCTCGAAGATGAACCCTTTGTGGAACACCATGGTCATCGGAGGCTATGCTGATGGAGAGAGCTTCCTCGGTTATGTGGACATGCTTGGTGTA
GCCTATGAAGCCCCTTCGCTGGCCACTGGTTATGGTGCATACTTGGCTCAGCCTCTGCTGCGAGAAGTTCTGGAGAAGCAGCCAGTGCTAAGCCAGACCGAGGCC
CGCGACTTAGTAGAACGCTGCATGCGAGTGCTGTACTACCGAGATGCCCGTTCTTACAACCGGTTTCAAATCGCCACTGTCACCGAAAAAGGTGTTGAAATAGAG
GGACCATTGTCTACAGAGACCAACTGGGATATTGCCCACATGATCAGTGGCTTTGAATGA



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>PSMB4|5692|protein
MEAFLGSRSGLWAGGPAPGQFYRIPSTPDSFMDPASALYRGPITRTQNPMVTGTSVLGVKFEGGVVIAADMLGSYGSLARFRNISRIMRVNNSTMLGASGDYADF
QYLKQVLGQMVIDEELLGDGHSYSPRAIHSWLTRAMYSRRSKMNPLWNTMVIGGYADGESFLGYVDMLGVAYEAPSLATGYGAYLAQPLLREVLEKQPVLSQTEA
RDLVERCMRVLYYRDARSYNRFQIATVTEKGVEIEGPLSTETNWDIAHMISGFE


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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 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Linkage Studies Top