AutismKB 2.0

Evidence Details for RPN1


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Basic Information Top
Gene Symbol:RPN1 ( DKFZp686B16177,OST1,RBPH1 )
Gene Full Name: ribophorin I
Band: 3q21.3
Quick LinksEntrez ID:6184; OMIM: 180470; Uniprot ID:RPN1_HUMAN; ENSEMBL ID: ENSG00000163902; HGNC ID: 10381
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPN1|6184|nucleotide
ATGGAGGCGCCAGCCGCCGGCTTGTTTCTGCTCCTGTTGCTTGGGACTTGGGCCCCGGCGCCGGGCAGCGCCTCCTCCGAGGCACCGCCGCTGATCAATGAGGAC
GTGAAGCGCACAGTGGACCTAAGCAGCCACCTGGCTAAGGTGACGGCCGAGGTGGTCCTGGCGCACCTGGGCGGCGGCTCCACGTCCCGAGCTACCTCTTTCCTG
CTGGCTTTGGAGCCTGAGCTCGAGGCCCGGCTGGCGCACCTGGGCGTGCAGGTAAAGGGAGAAGATGAGGAAGAGAACAATTTGGAAGTACGTGAAACCAAAATT
AAGGGTAAAAGTGGGAGATTCTTCACAGTCAAGCTCCCAGTTGCTCTTGATCCTGGGGCCAAGATTTCAGTCATTGTGGAAACAGTCTACACCCATGTGCTTCAT
CCGTATCCAACCCAGATCACCCAGTCAGAGAAACAGTTTGTGGTGTTTGAGGGGAACCATTATTTCTACTCTCCCTATCCAACGAAGACACAAACCATGCGTGTG
AAGCTTGCCTCTCGAAATGTGGAGAGCTACACCAAGCTGGGGAACCCCACGCGCTCTGAGGACCTACTGGATTATGGGCCTTTCAGAGATGTGCCTGCCTATAGT
CAGGATACTTTTAAAGTACATTATGAGAACAACAGCCCTTTCCTGACCATCACCAGCATGACCCGAGTCATTGAAGTCTCTCACTGGGGTAATATTGCTGTGGAA
GAAAATGTGGACTTAAAGCACACAGGAGCTGTGCTTAAGGGGCCTTTCTCACGCTATGATTACCAGAGACAGCCAGATAGTGGAATATCCTCCATCCGTTCTTTT
AAGACCATCCTTCCTGCTGCTGCCCAGGATGTTTATTACCGGGATGAGATTGGCAATGTTTCTACCAGCCACCTCCTTATTTTGGATGACTCTGTAGAGATGGAA
ATCCGGCCTCGCTTCCCTCTCTTTGGCGGGTGGAAGACCCATTACATCGTTGGCTACAACCTCCCAAGCTATGAGTACCTCTATAATTTGGGTGACCAGTATGCA
CTGAAGATGAGGTTTGTGGACCATGTGTTTGATGAACAAGTGATAGATTCTCTGACTGTGAAGATCATCCTGCCTGAAGGAGCCAAGAACATTGAAATTGATAGT
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>RPN1|6184|protein
MEAPAAGLFLLLLLGTWAPAPGSASSEAPPLINEDVKRTVDLSSHLAKVTAEVVLAHLGGGSTSRATSFLLALEPELEARLAHLGVQVKGEDEEENNLEVRETKI
KGKSGRFFTVKLPVALDPGAKISVIVETVYTHVLHPYPTQITQSEKQFVVFEGNHYFYSPYPTKTQTMRVKLASRNVESYTKLGNPTRSEDLLDYGPFRDVPAYS
QDTFKVHYENNSPFLTITSMTRVIEVSHWGNIAVEENVDLKHTGAVLKGPFSRYDYQRQPDSGISSIRSFKTILPAAAQDVYYRDEIGNVSTSHLLILDDSVEME
IRPRFPLFGGWKTHYIVGYNLPSYEYLYNLGDQYALKMRFVDHVFDEQVIDSLTVKIILPEGAKNIEIDSPYEISRAPDELHYTYLDTFGRPVIVAYKKNLVEQH
IQDIVVHYTFNKVLMLQEPLLVVAAFYILFFTVIIYVRLDFSITKDPAAEARMKVACITEQVLTLVNKRIGLYRHFDETVNRYKQSRDISTLNSGKKSLETEHKA
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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) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top