AutismKB 2.0

Evidence Details for NOBOX


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Basic Information Top
Gene Symbol:NOBOX ( OG-2,OG2,OG2X,POF5,TCAG_12042 )
Gene Full Name: NOBOX oogenesis homeobox
Band: 7q35
Quick LinksEntrez ID:135935; OMIM: 610934; Uniprot ID:NOBOX_HUMAN; ENSEMBL ID: ENSG00000106410; HGNC ID: 22448
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOBOX|135935|nucleotide
ATGGAACCCACAGAGAATCCCTGCCAGGGACCGCTGGGCCAGAAAGCTGGAGAGAAGCCCCTGGCTGCAGGACCCGGGGAGGAGGAACTGCTCCGGGGCTCAGCC
CCTCATGCTCAGGACACTCAGAGTGAGGAACTGCCACCCTCCTGCACCATCTCAGGAGAGAAGAAGCCGCCAGCAGTCTCTGGAGAAGCCACCGGGGCTGATGCT
GGGAGACTGTGCCCGCCCCCCCGCTCCAGGGCTCCCCACAAAGACAGAACTCTAGCCCGCTCCAGGCCCCAGACTCAGGGGGAAGATTGTTCCCTCCCAGTGGGA
GAGGTGAAGATAGGAAAGAGGTCCTATTCTCCAGCCCCCGGGAAGCAGAAAAAGCCTAATGCCATGGGTCTGGCCCCAACATCATCTCCGGGTGCCCCTAACTCA
GCCCGTGCCACACACAACCCAGTGCCCTGTGGGTCAGGCCGGGGGCCCTGCCACCTGGCCAATCTCCTCAGTACATTGGCGCAGAGCAACCAAAACAGAGACCAC
AAGCAGGGGCCCCCGGAAGTGACCTGCCAAATTAGGAAAAAGACACGAACCCTATACCGCTCAGATCAGCTGGAGGAGCTAGAGAAGATATTCCAAGAAGACCAC
TATCCTGACAGTGATAAACGCCGAGAGATTGCCCAGACGGTGGGGGTGACCCCCCAGCGCATCATGGTGTGGTTCCAGAATCGCCGGGCCAAGTGGCGAAAAATG
GAGAAACTGAATGGGAAAGAAAGCAAGGACAATCCTGCAGCCCCTGGCCCTGCCAGCAGTCAATGCAGCTCTGCAGCTGAGATCCTACCTGCTGTGCCCATGGAG
CCAAAGCCTGACCCTTTCCCTCAGGAGTCCCCTCTGGATACCTTTCCAGAGCCCCCCATGCTGCTGACTTCTGACCAGACTTTGGCCCCCACCCAACCCAGTGAG
GGTGCTCAGAGGGTGGTGACCCCCCCACTCTTCAGCCCCCCACCTGTGCGAAGGGCCGATCTTCCTTTCCCCCTTGGCCCTGTCCACACCCCCCAACTGATGCCA
CTGCTGATGGATGTTGCTGGCAGTGACAGCAGCCACAAGGACGGCCCCTGTGGGTCCTGGGGGACAAGCATCACCCTGCCACCCCCCTGTTCATATTTGGAGGAG
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>NOBOX|135935|protein
MEPTENPCQGPLGQKAGEKPLAAGPGEEELLRGSAPHAQDTQSEELPPSCTISGEKKPPAVSGEATGADAGRLCPPPRSRAPHKDRTLARSRPQTQGEDCSLPVG
EVKIGKRSYSPAPGKQKKPNAMGLAPTSSPGAPNSARATHNPVPCGSGRGPCHLANLLSTLAQSNQNRDHKQGPPEVTCQIRKKTRTLYRSDQLEELEKIFQEDH
YPDSDKRREIAQTVGVTPQRIMVWFQNRRAKWRKMEKLNGKESKDNPAAPGPASSQCSSAAEILPAVPMEPKPDPFPQESPLDTFPEPPMLLTSDQTLAPTQPSE
GAQRVVTPPLFSPPPVRRADLPFPLGPVHTPQLMPLLMDVAGSDSSHKDGPCGSWGTSITLPPPCSYLEELEPQDYQQSNQPGPFQFSQAPQPPLFQSPQPKLPY
LPTFPFSMPSSLTLPPPEDSLFMFPCGPSGGTSQGYCPGASSGQILMQPPAGNIGTASWSDPCLPELPFPGPFCPQALGHPPGGDGYFPDLFPTPCPQALGRQPS
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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 (1) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top