AutismKB 2.0

Evidence Details for NAV3


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Basic Information Top
Gene Symbol:NAV3 ( KIAA0938,POMFIL1,STEERIN3,unc53H3 )
Gene Full Name: neuron navigator 3
Band: 12q21.2
Quick LinksEntrez ID:89795; OMIM: 611629; Uniprot ID:NAV3_HUMAN; ENSEMBL ID: ENSG00000067798; HGNC ID: 15998
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NAV3|89795|nucleotide
ATGCCTGTTCTTGGGGTTGCCTCAAAACTGAGGCAGCCAGCTGTTGGGTCAAAGCCTGTGCATACTGCTCTTCCGATACCAAATCTTGGCACTACTGGGTCACAG
CACTGTTCTTCAAGACCTTTGGAACTTACTGAAACAGAGAGCTCCATGCTTTCTTGTCAGCTTGCGTTAAAATCAACCTGTGAATTTGGAGAGAAGAAACCCCTC
CAAGGAAAAGCCAAGGAGAAAGAAGACAGCAAGATTTACACTGACTGGGCCAACCACTACCTAGCAAAATCAGGCCACAAGCGGCTGATCAAGGACTTGCAACAA
GACATTGCAGATGGAGTACTCCTAGCAGAAATCATCCAGATTATTGCAAATGAAAAAGTTGAAGATATCAATGGATGTCCTAGAAGTCAGTCTCAGATGATTGAA
AATGTTGATGTCTGCCTTAGTTTTCTAGCAGCCAGAGGGGTAAATGTTCAAGGTCTATCTGCTGAAGAAATAAGAAATGGAAACTTAAAAGCCATTCTAGGGCTG
TTTTTCAGTTTATCTCGCTACAAGCAGCAACAACACCATCAACAACAGTACTATCAGTCCTTGGTGGAACTTCAGCAGCGAGTTACTCACGCTTCCCCTCCATCG
GAAGCCAGCCAGGCCAAAACCCAGCAAGATATGCAGTCCAGTCTGGCAGCCAGATATGCAACTCAGTCTAATCACAGTGGAATTGCAACCAGTCAAAAAAAGCCT
ACTAGGCTTCCAGGGCCCTCTAGGGTGCCTGCTGCAGGAAGCAGCAGCAAGGTCCAGGGAGCCTCTAATTTAAATAGGAGAAGTCAGAGCTTTAACAGCATTGAC
AAAAACAAGCCTCCAAATTATGCAAATGGAAACGAAAAAGATTCCTCCAAAGGACCTCAATCGTCTTCAGGTGTAAATGGTAACGTGCAGCCTCCCAGTACTGCT
GGGCAGCCTCCTGCCTCTGCCATCCCTTCTCCAAGTGCCAGCAAGCCCTGGCGCAGCAAGTCCATGAATGTCAAACACAGTGCCACCTCCACCATGTTGACTGTA
AAGCAGTCAAGTACAGCCACCTCCCCCACACCATCTTCAGACAGACTGAAGCCACCTGTCTCAGAAGGGGTCAAAACTGCTCCCTCAGGACAGAAATCCATGCTT
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>NAV3|89795|protein
MPVLGVASKLRQPAVGSKPVHTALPIPNLGTTGSQHCSSRPLELTETESSMLSCQLALKSTCEFGEKKPLQGKAKEKEDSKIYTDWANHYLAKSGHKRLIKDLQQ
DIADGVLLAEIIQIIANEKVEDINGCPRSQSQMIENVDVCLSFLAARGVNVQGLSAEEIRNGNLKAILGLFFSLSRYKQQQHHQQQYYQSLVELQQRVTHASPPS
EASQAKTQQDMQSSLAARYATQSNHSGIATSQKKPTRLPGPSRVPAAGSSSKVQGASNLNRRSQSFNSIDKNKPPNYANGNEKDSSKGPQSSSGVNGNVQPPSTA
GQPPASAIPSPSASKPWRSKSMNVKHSATSTMLTVKQSSTATSPTPSSDRLKPPVSEGVKTAPSGQKSMLEKFKLVNARTALRPPQPPSSGPSDGGKDDDAFSES
GEMEGFNSGLNSGGSTNSSPKVSPKLAPPKAGSKNLSNKKSLLQPKEKEEKNRDKNKVCTEKPVKEEKDQVTEMAPKKTSKIASLIPKGSKTTAAKKESLIPSSS
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (5)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top