Evidence Details for RBBP6
Basic Information Top
Gene Symbol: | RBBP6 ( DKFZp686P0638,DKFZp761B2423,MY038,P2P-R,PACT,RBQ-1,SNAMA ) |
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Gene Full Name: | retinoblastoma binding protein 6 |
Band: | 16p12.1 |
Quick Links | Entrez 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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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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MSCVHYKFSSKLNYDTVTFDGLHISLCDLKKQIMGREKLKAADCDLQITNAQTKEEYTDDNALIPKNSSVIVRRIPIGGVKSTSKTYVISRTEPAMATTKAIDDS
SASISLAQLTKTANLAEANASEEDKIKAMMSQSGHEYDPINYMKKPLGPPPPSYTCFRCGKPGHYIKNCPTNGDKNFESGPRIKKSTGIPRSFMMEVKDPNMKGA
MLTNTGKYAIPTIDAEAYAIGKKEKPPFLPEEPSSSSEEDDPIPDELLCLICKDIMTDAVVIPCCGNSYCDECIRTALLESDEHTCPTCHQNDVSPDALIANKFL
RQAVNNFKNETGYTKRLRKQLPPPPPPIPPPRPLIQRNLQPLMRSPISRQQDPLMIPVTSSSTHPAPSISSLTSNQSSLAPPVSGNPSSAPAPVPDITATVSISV
HSEKSDGPFRDSDNKILPAAALASEHSKGTSSIAITALMEEKGYQVPVLGTPSLLGQSLLHGQLIPTTGPVRINTARPGGGRPGWEHSNKLGYLVSPPQQIRRGE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Chen R, 2017 | 107 | 116 | 128 | Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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