AutismKB 2.0

Evidence Details for MRPS22


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Basic Information Top
Gene Symbol:MRPS22 ( C3orf5,COXPD5,GIBT,MRP-S22,RPMS22 )
Gene Full Name: mitochondrial ribosomal protein S22
Band: 3q23
Quick LinksEntrez ID:56945; OMIM: 605810; Uniprot ID:RT22_HUMAN; ENSEMBL ID: ENSG00000175110; HGNC ID: 14508
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MRPS22|56945|nucleotide
ATGGCGCCCCTCGGAACAACTGTATTGCTGTGGAGCCTCTTGAGGAGTTCTCCGGGCGTGGAACGGGTCTGTTTCCGGGCTCGAATCCAGCCCTGGCACGGTGGC
CTGCTCCAACCGCTACCTTGCTCTTTCGAGATGGGGCTGCCACGCCGCCGGTTCAGCTCCGAGGCCGCAGAATCTGGTAGCCCAGAGACCAAGAAACCTACATTT
ATGGATGAGGAAGTTCAAAGCATACTCACGAAAATGACAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTATACAAGAACTGAAGCCACCAACCTATAAGCTA
ATGACTCAGGCACAGTTGGAAGAGGCTACAAGACAGGCAGTTGAGGCAGCTAAAGTACGATTAAAAATGCCACCAGTTCTGGAAGAGCGAGTACCAATAAATGAT
GTGTTAGCTGAAGATAAGATTTTGGAAGGAACAGAAACAACCAAATATGTGTTTACTGATATATCATATAGCATACCACACCGGGAGCGTTTTATTGTCGTCAGA
GAACCAAGTGGCACACTACGCAAAGCCTCTTGGGAAGAACGGGACCGAATGATACAAGTTTATTTCCCAAAAGAAGGTCGTAAAATTTTGACACCAATAATTTTC
AAGGAAGAAAATCTTAGGACTATGTATAGCCAGGACAGGCATGTTGATGTCCTCAATCTCTGCTTTGCCCAGTTTGAGCCAGATTCCACAGAGTATATCAAGGTT
CATCACAAGACCTATGAAGATATAGATAAACGTGGAAAATATGACCTTTTACGTTCAACAAGATACTTTGGTGGAATGGTGTGGTATTTTGTAAATAATAAAAAG
ATTGATGGTTTGCTGATTGACCAGATTCAGAGAGATTTAATCGATGATGCAACCAACTTGGTCCAGCTGTATCACGTGCTCCATCCAGATGGCCAGTCGGCTCAA
GGGGCCAAGGATCAGGCTGCTGAGGGAATAAATTTAATCAAGGTCTTTGCAAAAACAGAAGCACAGAAGGGAGCCTATATAGAACTAACACTGCAGACTTATCAA
GAAGCACTCAGTCGCCATTCTGCAGCTTCCTAA
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>MRPS22|56945|protein
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPTYKL
MTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIF
KEENLRTMYSQDRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQ
GAKDQAAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top