AutismKB 2.0

Evidence Details for RBBP6


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Basic Information Top
Gene Symbol:RBBP6 ( DKFZp686P0638,DKFZp761B2423,MY038,P2P-R,PACT,RBQ-1,SNAMA )
Gene Full Name: retinoblastoma binding protein 6
Band: 16p12.1
Quick LinksEntrez ID:5930; OMIM: 600938; Uniprot ID:RBBP6_HUMAN; ENSEMBL ID: ENSG00000122257; HGNC ID: 9889
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBBP6|5930|nucleotide
ATGTCCTGTGTGCATTATAAATTTTCCTCTAAACTCAACTATGATACCGTCACCTTTGATGGGCTCCACATCTCCCTCTGCGACTTAAAGAAGCAGATTATGGGG
AGAGAGAAGCTGAAAGCTGCCGACTGCGACCTGCAGATCACCAATGCGCAGACGAAAGAAGAATATACTGATGATAATGCTCTGATTCCTAAGAATTCTTCTGTA
ATTGTTAGAAGAATTCCTATTGGAGGTGTTAAATCTACAAGCAAGACATATGTTATAAGTCGAACTGAACCAGCGATGGCAACTACAAAAGCAATTGATGACTCT
TCCGCGTCTATTTCTCTGGCCCAGCTTACAAAGACTGCCAATCTGGCTGAAGCCAATGCTTCTGAAGAAGATAAAATTAAAGCAATGATGTCGCAATCTGGCCAT
GAATACGACCCAATCAATTACATGAAGAAACCTCTAGGTCCACCACCTCCATCTTACACGTGTTTCCGTTGTGGTAAACCTGGACATTATATTAAGAATTGCCCA
ACAAATGGGGATAAAAACTTTGAATCTGGTCCTAGGATTAAAAAGAGCACTGGAATTCCCAGAAGTTTCATGATGGAAGTGAAAGATCCTAATATGAAAGGTGCA
ATGCTTACCAACACTGGAAAATATGCAATACCAACTATAGATGCAGAAGCATATGCAATTGGGAAGAAAGAGAAACCTCCCTTCTTACCAGAGGAGCCATCTTCT
TCCTCAGAAGAAGATGATCCTATCCCAGATGAATTGTTGTGTCTCATCTGCAAGGATATTATGACTGATGCTGTTGTGATTCCCTGCTGTGGAAACAGTTACTGT
GATGAATGTATAAGAACAGCACTCCTGGAATCAGATGAGCACACATGTCCGACGTGTCATCAAAATGATGTTTCTCCTGATGCTTTAATTGCCAATAAATTTTTA
CGACAGGCTGTAAATAACTTCAAAAATGAAACTGGCTATACAAAAAGACTACGAAAACAGTTACCTCCTCCACCACCCCCAATACCACCTCCGAGACCACTGATT
CAGAGGAACCTACAACCTCTGATGAGATCTCCGATATCAAGACAACAAGATCCTCTTATGATTCCAGTGACATCTTCATCAACTCACCCAGCTCCGTCTATATCT
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>RBBP6|5930|protein
MSCVHYKFSSKLNYDTVTFDGLHISLCDLKKQIMGREKLKAADCDLQITNAQTKEEYTDDNALIPKNSSVIVRRIPIGGVKSTSKTYVISRTEPAMATTKAIDDS
SASISLAQLTKTANLAEANASEEDKIKAMMSQSGHEYDPINYMKKPLGPPPPSYTCFRCGKPGHYIKNCPTNGDKNFESGPRIKKSTGIPRSFMMEVKDPNMKGA
MLTNTGKYAIPTIDAEAYAIGKKEKPPFLPEEPSSSSEEDDPIPDELLCLICKDIMTDAVVIPCCGNSYCDECIRTALLESDEHTCPTCHQNDVSPDALIANKFL
RQAVNNFKNETGYTKRLRKQLPPPPPPIPPPRPLIQRNLQPLMRSPISRQQDPLMIPVTSSSTHPAPSISSLTSNQSSLAPPVSGNPSSAPAPVPDITATVSISV
HSEKSDGPFRDSDNKILPAAALASEHSKGTSSIAITALMEEKGYQVPVLGTPSLLGQSLLHGQLIPTTGPVRINTARPGGGRPGWEHSNKLGYLVSPPQQIRRGE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top