AutismKB 2.0

Evidence Details for RBL2


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Basic Information Top
Gene Symbol:RBL2 ( FLJ26459,P130,Rb2 )
Gene Full Name: retinoblastoma-like 2 (p130)
Band: 16q12.2
Quick LinksEntrez ID:5934; OMIM: 180203; Uniprot ID:RBL2_HUMAN; ENSEMBL ID: ENSG00000103479; HGNC ID: 9894
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBL2|5934|nucleotide
ATGCCGTCGGGAGGTGACCAGTCGCCACCGCCCCCGCCTCCCCCTCCGGCGGCGGCAGCCTCGGATGAGGAGGAGGAGGACGACGGCGAGGCGGAAGACGCCGCG
CCGCCTGCCGAGTCGCCCACCCCTCAGATCCAGCAGCGGTTCGACGAGCTGTGCAGCCGCCTCAACATGGACGAGGCGGCGCGGGCCGAGGCCTGGGACAGCTAC
CGCAGCATGAGCGAAAGCTACACGCTGGAGGGAAATGATCTTCATTGGTTAGCATGTGCCTTATATGTGGCTTGCAGAAAATCTGTTCCAACTGTAAGCAAAGGG
ACAGTGGAAGGAAACTATGTATCTTTAACTAGAATCCTGAAATGTTCAGAGCAGAGCTTAATCGAATTTTTTAATAAGATGAAGAAGTGGGAAGACATGGCAAAT
CTACCCCCACATTTCAGAGAACGTACTGAGAGATTAGAAAGAAACTTCACTGTTTCTGCTGTAATTTTTAAGAAATATGAACCCATTTTTCAGGACATCTTTAAA
TACCCTCAAGAGGAGCAACCTCGTCAGCAGCGAGGAAGGAAACAGCGGCGACAGCCCTGTACTGTGTCTGAAATTTTCCATTTTTGTTGGGTGCTTTTTATATAT
GCAAAAGGTAATTTCCCCATGATTAGTGATGATTTGGTCAATTCTTATCACCTGCTGCTGTGTGCTTTGGACTTAGTTTATGGAAATGCACTTCAGTGTTCTAAT
CGTAAAGAACTTGTGAACCCTAATTTTAAAGGCTTATCTGAAGATTTTCATGCTAAAGATTCTAAACCTTCCTCTGACCCCCCTTGTATCATTGAGAAACTGTGT
TCCTTACATGATGGCCTAGTTTTGGAAGCAAAGGGGATAAAGGAACATTTCTGGAAACCCTATATTAGGAAACTTTATGAAAAAAAGCTCCTTAAGGGAAAAGAA
GAAAATCTCACTGGGTTTCTAGAACCTGGGAACTTTGGAGAGAGTTTTAAAGCCATCAATAAGGCCTATGAGGAGTATGTTTTATCTGTTGGGAATTTAGATGAG
CGGATATTTCTTGGAGAGGATGCTGAGGAGGAAATTGGGACTCTCTCAAGGTGTCTGAACGCTGGTTCAGGAACAGAGACTGCTGAAAGGGTGCAGATGAAAAAC
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>RBL2|5934|protein
MPSGGDQSPPPPPPPPAAAASDEEEEDDGEAEDAAPPAESPTPQIQQRFDELCSRLNMDEAARAEAWDSYRSMSESYTLEGNDLHWLACALYVACRKSVPTVSKG
TVEGNYVSLTRILKCSEQSLIEFFNKMKKWEDMANLPPHFRERTERLERNFTVSAVIFKKYEPIFQDIFKYPQEEQPRQQRGRKQRRQPCTVSEIFHFCWVLFIY
AKGNFPMISDDLVNSYHLLLCALDLVYGNALQCSNRKELVNPNFKGLSEDFHAKDSKPSSDPPCIIEKLCSLHDGLVLEAKGIKEHFWKPYIRKLYEKKLLKGKE
ENLTGFLEPGNFGESFKAINKAYEEYVLSVGNLDERIFLGEDAEEEIGTLSRCLNAGSGTETAERVQMKNILQQHFDKSKALRISTPLTGVRYIKENSPCVTPVS
TATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQ
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top