AutismKB 2.0

Evidence Details for RRBP1


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Basic Information Top
Gene Symbol:RRBP1 ( DKFZp586A1420,ES/130,ES130,FLJ36146,MGC157720,MGC157721,hES )
Gene Full Name: ribosome binding protein 1 homolog 180kDa (dog)
Band: 20p12.1
Quick LinksEntrez ID:6238; OMIM: 601418; Uniprot ID:RRBP1_HUMAN; ENSEMBL ID: ENSG00000125844; HGNC ID: 10448
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RRBP1|6238|nucleotide
ATGGATATTTACGACACTCAAACCTTGGGGGTTGTGGTCTTTGGAGGATTCATGGTTGTTTCTGCCATTGGCATCTTCCTGGTGTCGACTTTCTCCATGAAGGAA
ACGTCATATGAAGAAGCCCTAGCCAACCAGCGCAAGGAGATGGCGAAAACTCACCACCAGAAAGTCGAGAAGAAAAAGAAGGAGAAAACAGTGGAGAAGAAAGGA
AAGACCAAGAAAAAGGAAGAGAAACCTAATGGGAAGATACCTGATCATGATCCAGCCCCCAATGTGACTGTCCTCCTTCGAGAACCAGTGCGGGCTCCTGCTGTG
GCTGTGGCTCCAACCCCAGTGCAGCCCCCCATTATCGTTGCTCCTGTCGCCACAGTTCCAGCCATGCCCCAGGAGAAGCTGGCCTCCTCCCCCAAGGACAAAAAG
AAGAAGGAGAAAAAAGTGGCAAAAGTGGAACCAGCTGTCAGCTCTGTAGTGAATTCCATCCAGGTTCTCACTTCGAAGGCTGCCATCTTGGAAACTGCTCCCAAG
GAGGGCAGAAATACAGATGTGGCCCAGAGCCCAGAGGCACCAAAGCAAGAGGCTCCTGCCAAGAAGAAGTCTGGTTCAAAGAAAAAAGGGCCCCCAGATGCCGAC
GGCCCTCTCTACCTCCCCTACAAGACGCTGGTCTCCACGGTTGGGAGCATGGTGTTCAACGAGGGCGAGGCCCAGCGGCTCATCGAGATCCTGTCTGAGAAGGCT
GGCATCATTCAGGACACCTGGCACAAGGCCACTCAGAAGGGTGACCCTGTGGCGATTCTGAAACGCCAGCTGGAAGAGAAGGAAAAACTGCTGGCCACAGAACAG
GAAGATGCGGCTGTCGCCAAGAGCAAACTGAGGGAGCTCAACAAGGAGATGGCAGCAGAAAAGGCCAAAGCAGCAGCCGGGGAGGCCAAAGTGAAAAAGCAGCTG
GTGGCCCGGGAGCAGGAGATCACGGCTGTGCAGGCACGCATGCAGGCCAGCTACCGGGAGCACGTGAAGGAGGTGCAGCAGCTGCAGGGCAAGATCCGGACTCTT
CAGGAGCAGCTGGAGAATGGCCCCAACACGCAGCTGGCCCGCCTGCAGCAGGAGAACTCCATCCTGCGGGATGCCTTGAACCAGGCCACGAGCCAGGTGGAGAGC
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>RRBP1|6238|protein
MDIYDTQTLGVVVFGGFMVVSAIGIFLVSTFSMKETSYEEALANQRKEMAKTHHQKVEKKKKEKTVEKKGKTKKKEEKPNGKIPDHDPAPNVTVLLREPVRAPAV
AVAPTPVQPPIIVAPVATVPAMPQEKLASSPKDKKKKEKKVAKVEPAVSSVVNSIQVLTSKAAILETAPKEGRNTDVAQSPEAPKQEAPAKKKSGSKKKGPPDAD
GPLYLPYKTLVSTVGSMVFNEGEAQRLIEILSEKAGIIQDTWHKATQKGDPVAILKRQLEEKEKLLATEQEDAAVAKSKLRELNKEMAAEKAKAAAGEAKVKKQL
VAREQEITAVQARMQASYREHVKEVQQLQGKIRTLQEQLENGPNTQLARLQQENSILRDALNQATSQVESKQNAELAKLRQELSKVSKELVEKSEAVRQDEQQRK
ALEAKAAAFEKQVLQLQASHRESEEALQKRLDEVSRELCHTQSSHASLRADAEKAQEQQQQMAELHSKLQSSEAEVRSKCEELSGLHGQLQEARAENSQLTERIR
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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 (1) 0 (0) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top