AutismKB 2.0

Evidence Details for RBBP5


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Basic Information Top
Gene Symbol:RBBP5 ( RBQ3,SWD1 )
Gene Full Name: retinoblastoma binding protein 5
Band: 1q32.1
Quick LinksEntrez ID:5929; OMIM: 600697; Uniprot ID:RBBP5_HUMAN; ENSEMBL ID: ENSG00000117222; HGNC ID: 9888
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBBP5|5929|nucleotide
ATGAACCTCGAGTTGCTGGAGTCCTTTGGGCAGAACTATCCAGAGGAAGCTGATGGAACTTTGGATTGTATCAGCATGGCTTTGACTTGCACCTTTAACAGGTGG
GGCACACTGCTTGCAGTTGGCTGTAATGATGGCCGAATTGTCATCTGGGATTTCTTGACAAGAGGCATTGCTAAAATAATTAGTGCACACATCCATCCAGTGTGT
TCTTTATGCTGGAGCCGAGATGGTCATAAACTCGTGAGTGCTTCCACTGATAACATAGTGTCACAGTGGGATGTTCTTTCAGGCGACTGTGACCAGAGGTTTCGA
TTCCCTTCACCCATCTTAAAAGTCCAATATCATCCACGAGATCAGAACAAGGTTCTCGTGTGTCCCATGAAATCTGCTCCTGTCATGTTGACCCTTTCAGATTCC
AAACATGTTGTTCTGCCGGTGGACGATGACTCCGATTTGAACGTTGTGGCATCTTTTGATAGGCGAGGGGAATATATTTATACGGGAAACGCAAAAGGCAAGATT
TTGGTCCTAAAAACAGATTCTCAGGATCTTGTTGCTTCCTTCAGAGTGACAACTGGAACAAGCAATACCACAGCCATTAAGTCAATTGAGTTTGCCCGGAAGGGG
AGTTGCTTTTTAATTAACACGGCAGATCGAATAATCAGAGTTTATGATGGCAGAGAAATCTTAACATGTGGAAGAGATGGAGAGCCTGAACCTATGCAGAAATTG
CAGGATTTGGTGAATAGGACCCCATGGAAGAAATGTTGTTTCTCTGGGGATGGGGAATACATCGTGGCAGGTTCTGCCCGGCAGCATGCCCTGTACATCTGGGAG
AAGAGCATTGGCAACCTGGTGAAGATTCTCCATGGGACGAGAGGAGAACTCCTCTTGGATGTAGCTTGGCATCCTGTTCGACCCATCATAGCATCCATTTCCAGT
GGAGTGGTATCTATCTGGGCACAGAATCAAGTAGAAAACTGGAGTGCATTTGCACCAGACTTCAAAGAATTGGATGAAAATGTAGAATACGAAGAAAGGGAATCA
GAGTTTGATATTGAAGATGAAGATAAGAGTGAGCCTGAGCAGACAGGGGCTGATGCTGCAGAAGATGAGGAAGTGGATGTCACCAGCGTGGACCCTATTGCTGCC
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>RBBP5|5929|protein
MNLELLESFGQNYPEEADGTLDCISMALTCTFNRWGTLLAVGCNDGRIVIWDFLTRGIAKIISAHIHPVCSLCWSRDGHKLVSASTDNIVSQWDVLSGDCDQRFR
FPSPILKVQYHPRDQNKVLVCPMKSAPVMLTLSDSKHVVLPVDDDSDLNVVASFDRRGEYIYTGNAKGKILVLKTDSQDLVASFRVTTGTSNTTAIKSIEFARKG
SCFLINTADRIIRVYDGREILTCGRDGEPEPMQKLQDLVNRTPWKKCCFSGDGEYIVAGSARQHALYIWEKSIGNLVKILHGTRGELLLDVAWHPVRPIIASISS
GVVSIWAQNQVENWSAFAPDFKELDENVEYEERESEFDIEDEDKSEPEQTGADAAEDEEVDVTSVDPIAAFCSSDEELEDSKALLYLPIAPEVEDPEENPYGPPP
DAVQTSLMDEGASSEKKRQSSADGSQPPKKKPKTTNIELQGVPNDEVHPLLGVKGDGKSKKKQAGRPKGSKAGGAISELL
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top