AutismKB 2.0

Evidence Details for NOMO3


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Basic Information Top
Gene Symbol:NOMO3 ( Nomo )
Gene Full Name: NODAL modulator 3
Band: 16p13.11
Quick LinksEntrez ID:408050; OMIM: 609159; Uniprot ID:NOMO3_HUMAN; ENSEMBL ID: ENSG00000103226; HGNC ID: 25242
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOMO3|408050|nucleotide
ATGCTGGTGGGCCAGGGCGCGGGGCCGCTGGGGCCCGCGGTGGTCACCGCCGCGGTGGTGCTGCTGCTGAGCGGCGTGGGGCCGGCGCACGGCTCGGAGGACATC
GTGGTGGGCTGCGGTGGCTTCGTCAAGTCGGACGTGGAGATCAACTACTCTCTCATCGAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGAC
TGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGGGGATTTCATTCTGAAGATTGAGCCTCCCCTAGGGTGGAGTTTTGAGCCGACGACCGTG
GAGCTCCATGTGGATGGAGTCAGTGACATCTGCACAAAGGGTGGGGACATCAACTTTGTCTTCACTGGGTTCTCTGTGAATGGCAAGGTCCTCAGCAAAGGGCAG
CCCCTGGGTCCTGCGGGAGTTCAGGTGTCTCTGAGAAACACTGGGACCGAAGCAAAGATCCAGTCCACAGTTACACAGCCTGGCGGAAAGTTTGCATTTTTTAAA
GTTCTGCCTGGAGATTATGAAATCCTCGCAACTCATCCAACCTGGGCGTTGAAAGAGGCAAGCACCACAGTGCGTGTAACCAACTCCAATGCCAATGCGGCCAGT
CCCCTCATAGTTGCTGGCTACAATGTGTCTGGCTCTGTCCGAAGTGATGGGGAGCCCATGAAAGGCGTGAAGTTTCTTCTCTTTTCTTCTTTAGTAACTAAAGAG
GATGTCCTGGGCTGCAATGTCTCACCAGTGCCTGGGTTCCAGCCCCAAGACGAGAGTCTGGTGTATTTGTGCTACACGGTCTCCAGAGAAGATGGCTCGTTCTCT
TTCTATTCCTTGCCAAGTGGGGGCTACACTGTGATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCAT
GACAGCTTGAAAATCGAGCCCGTGTTCCACGTCATGGGATTCTCCGTCACCGGGAGGGTCTTGAACGGACCCGAAGGAGATGGTGTTCCAGAAGCAGTAGTCACC
CTGAATAACCAAATCAAAGTTAAAACAAAAGCTGATGGCTCATTCCGCCTTGAGAACATAACCACAGGGACATACACCATCCATGCTCAGAAAGAGCACCTCTAC
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>NOMO3|408050|protein
MLVGQGAGPLGPAVVTAAVVLLLSGVGPAHGSEDIVVGCGGFVKSDVEINYSLIEIKLYTKHGTLKYQTDCAPNNGYFMIPLYDKGDFILKIEPPLGWSFEPTTV
ELHVDGVSDICTKGGDINFVFTGFSVNGKVLSKGQPLGPAGVQVSLRNTGTEAKIQSTVTQPGGKFAFFKVLPGDYEILATHPTWALKEASTTVRVTNSNANAAS
PLIVAGYNVSGSVRSDGEPMKGVKFLLFSSLVTKEDVLGCNVSPVPGFQPQDESLVYLCYTVSREDGSFSFYSLPSGGYTVIPFYRGERITFDVAPSRLDFTVEH
DSLKIEPVFHVMGFSVTGRVLNGPEGDGVPEAVVTLNNQIKVKTKADGSFRLENITTGTYTIHAQKEHLYFETVTIKIAPNTPQLADIVATGFSVCGQISIIRFP
DTVKQMNKYKVVLSSQDKDKSLVTVETDAHGSFCFKANPGTYKVQVMVPEAETRAGLTLKPQTFPLTVTDRPVMDVAFVQFLASVSGKVSCLDTCGDLLVTLQSL
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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 (6) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (8)
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
Ullmann, 2007 Australia aCGHautism - - - - 70 - 70
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018