AutismKB 2.0

Evidence Details for NOL6


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Basic Information Top
Gene Symbol:NOL6 ( FLJ21959,MGC14896,MGC14921,MGC20838,NRAP,UTP22,bA311H10.1 )
Gene Full Name: nucleolar protein family 6 (RNA-associated)
Band: 9p13.3
Quick LinksEntrez ID:65083; OMIM: 611532; Uniprot ID:NOL6_HUMAN; ENSEMBL ID: ENSG00000165271; HGNC ID: 19910
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOL6|65083|nucleotide
ATGGGGCCGGCGCCAGCTGGAGAGCAGCTTCGCGGAGCGACTGGAGAGCCAGAGGTGATGGAACCAGCCCTGGAAGGCACAGGCAAAGAGGGGAAGAAAGCATCC
TCCAGGAAGCGTACATTGGCTGAACCTCCAGCGAAGGGCCTCCTGCAGCCAGTGAAGCTCAGCAGGGCAGAACTGTACAAGGAGCCTACCAATGAGGAGCTTAAT
CGCCTTCGGGAGACTGAGATCTTGTTCCACTCCAGCTTGCTTCGTTTACAGGTAGAGGAGCTACTAAAGGAAGTAAGGCTGTCAGAGAAGAAGAAGGATCGGATT
GATGCCTTCCTACGGGAGGTCAACCAGCGGGTTGTGAGGGTGCCCTCAGTCCCTGAGACAGAGCTCACTGACCAGGCATGGCTCCCAGCTGGGGTTCGAGTGCCC
CTCCACCAAGTGCCCTATGCCGTGAAGGGCTGTTTCCGCTTCCTGCCCCCAGCCCAGGTTACTGTTGTGGGCAGCTACCTTCTGGGCACCTGCATCCGACCAGAC
ATCAATGTGGATGTGGCACTGACCATGCCCAGGGAAATCCTACAGGACAAGGACGGGCTGAACCAGCGCTACTTCCGCAAGCGTGCCCTCTACCTGGCCCACTTG
GCTCACCACCTGGCCCAGGACCCCCTCTTTGGCAGTGTTTGCTTCTCCTACACAAATGGCTGCCACCTGAAACCCTCACTGTTGCTGCGGCCGCGTGGAAAGGAT
GAGCGCCTGGTCACTGTACGTCTGCATCCGTGCCCTCCACCTGACTTCTTCCGCCCGTGCCGCTTGCTGCCAACCAAGAACAATGTGCGCTCTGCCTGGTACCGA
GGGCAGAGTCCTGCAGGGGATGGTAGCCCAGAGCCTCCTACCCCCCGCTATAACACATGGGTCCTGCAAGATACAGTTCTCGAGTCCCATTTGCAGCTGCTGTCA
ACCATTCTGAGTTCAGCCCAGGGCCTGAAGGATGGCGTGGCACTTCTGAAGGTCTGGCTGCGGCAGCGGGAGCTGGACAAGGGCCAGGGTGGGTTTACTGGGTTC
CTTGTCTCCATGCTGGTTGTCTTCCTTGTGTCTACACGCAAGATCCATACCACCATGAGTGGCTACCAGGTCCTGAGAAGTGTCTTGCAGTTTCTGGCCACTACA
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>NOL6|65083|protein
MGPAPAGEQLRGATGEPEVMEPALEGTGKEGKKASSRKRTLAEPPAKGLLQPVKLSRAELYKEPTNEELNRLRETEILFHSSLLRLQVEELLKEVRLSEKKKDRI
DAFLREVNQRVVRVPSVPETELTDQAWLPAGVRVPLHQVPYAVKGCFRFLPPAQVTVVGSYLLGTCIRPDINVDVALTMPREILQDKDGLNQRYFRKRALYLAHL
AHHLAQDPLFGSVCFSYTNGCHLKPSLLLRPRGKDERLVTVRLHPCPPPDFFRPCRLLPTKNNVRSAWYRGQSPAGDGSPEPPTPRYNTWVLQDTVLESHLQLLS
TILSSAQGLKDGVALLKVWLRQRELDKGQGGFTGFLVSMLVVFLVSTRKIHTTMSGYQVLRSVLQFLATTDLTVNGISLCLSSDPSLPALADFHQAFSVVFLDSS
GHLNLCADVTASTYHQVQHEARLSMMLLDSRADDGFHLLLMTPKPMIRAFDHVLHLRPLSRLQAACHRLKLWPELQDNGGDYVSAALGPLTTLLEQGLGARLNLL
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top