AutismKB 2.0

Evidence Details for RBL1


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Basic Information Top
Gene Symbol:RBL1 ( CP107,MGC40006,PRB1,p107 )
Gene Full Name: retinoblastoma-like 1 (p107)
Band: 20q11.23
Quick LinksEntrez ID:5933; OMIM: 116957; Uniprot ID:RBL1_HUMAN; ENSEMBL ID: ENSG00000080839; HGNC ID: 9893
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBL1|5933|nucleotide
ATGTTCGAGGACAAGCCCCACGCTGAGGGGGCGGCGGTGGTCGCCGCAGCCGGGGAGGCGCTACAGGCCCTGTGCCAGGAGCTGAACCTGGACGAGGGGAGCGCG
GCCGAAGCCCTGGACGACTTTACTGCCATCCGAGGCAACTACAGCCTAGAGGGAGAAGTTACACACTGGTTGGCATGTTCATTATATGTTGCATGCCGCAAAAGC
ATTATTCCCACGGTTGGAAAGGGTATCATGGAAGGCAACTGTGTTTCACTTACCAGAATACTACGTTCAGCTAAATTAAGTTTAATACAATTTTTTAGTAAAATG
AAGAAATGGATGGACATGTCAAATCTACCACAAGAATTTCGTGAACGTATAGAAAGGCTAGAGAGAAATTTTGAGGTGTCTACTGTAATATTCAAAAAATATGAG
CCAATTTTTTTAGATATATTTCAAAATCCATATGAAGAACCACCAAAGTTACCACGAAGCCGGAAGCAGAGGAGGATTCCTTGCAGTGTTAAGGATCTGTTTAAT
TTCTGTTGGACACTTTTTGTTTATACTAAGGGTAATTTTCGGATGATTGGGGATGACTTAGTAAACTCTTATCATTTACTTCTATGCTGCTTGGATCTGATTTTT
GCCAATGCGATTATGTGCCCAAATAGACAAGACTTGCTAAATCCATCATTTAAAGGTTTACCATCTGATTTTCATACTGCTGACTTTACGGCTTCTGAAGAGCCA
CCCTGCATCATTGCTGTACTGTGTGAACTGCATGATGGACTTCTCGTAGAAGCAAAAGGAATAAAGGAGCACTACTTTAAGCCATATATTTCAAAACTCTTTGAC
AGGAAGATATTAAAAGGAGAATGCCTCCTGGACCTTTCAAGTTTTACTGATAATAGCAAAGCAGTGAATAAGGAGTATGAAGAGTATGTTCTAACTGTTGGTGAT
TTTGATGAGAGGATCTTTTTGGGAGCAGACGCAGAAGAGGAAATTGGAACACCTCGAAAGTTCACTCGTGACACCCCATTAGGGAAACTGACAGCACAGGCTAAT
GTGGAGTATAACCTTCAACAGCACTTTGAAAAAAAAAGGTCATTTGCACCTTCTACCCCACTGACCGGACGGAGATATTTACGAGAAAAAGAAGCAGTCATTACT
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>RBL1|5933|protein
MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLACSLYVACRKSIIPTVGKGIMEGNCVSLTRILRSAKLSLIQFFSKM
KKWMDMSNLPQEFRERIERLERNFEVSTVIFKKYEPIFLDIFQNPYEEPPKLPRSRKQRRIPCSVKDLFNFCWTLFVYTKGNFRMIGDDLVNSYHLLLCCLDLIF
ANAIMCPNRQDLLNPSFKGLPSDFHTADFTASEEPPCIIAVLCELHDGLLVEAKGIKEHYFKPYISKLFDRKILKGECLLDLSSFTDNSKAVNKEYEEYVLTVGD
FDERIFLGADAEEEIGTPRKFTRDTPLGKLTAQANVEYNLQQHFEKKRSFAPSTPLTGRRYLREKEAVITPVASATQSVSRLQSIVAGLKNAPSDQLINIFESCV
RNPVENIMKILKGIGETFCQHYTQSTDEQPGSHIDFAVNRLKLAEILYYKILETVMVQETRRLHGMDMSVLLEQDIFHRSLMACCLEIVLFAYSSPRTFPWIIEV
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top