AutismKB 2.0

Evidence Details for NOVA1


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Basic Information Top
Gene Symbol:NOVA1 ( Nova-1 )
Gene Full Name: neuro-oncological ventral antigen 1
Band: 14q12
Quick LinksEntrez ID:4857; OMIM: 602157; Uniprot ID:NOVA1_HUMAN; ENSEMBL ID: ENSG00000139910; HGNC ID: 7886
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOVA1|4857|nucleotide
ATGATGGCGGCAGCTCCCATCCAGCAGAACGGGACCCACACTGGGGTTCCCATAGACCTGGACCCGCCGGACTCGCGGAAAAGGCCGCTGGAAGCCCCCCCTGAA
GCCGGCAGCACCAAGAGGACCAATACGGGCGAAGACGGCCAGTATTTTCTAAAGGTTCTCATACCTAGTTATGCTGCTGGATCTATAATTGGGAAGGGAGGACAG
ACAATTGTTCAGTTGCAAAAAGAAACTGGAGCCACCATCAAGCTGTCTAAGTCCAAAGATTTTTACCCAGGTACTACTGAGCGAGTGTGCTTGATCCAGGGAACG
GTTGAAGCACTGAATGCAGTTCATGGATTCATTGCAGAAAAAATTCGAGAAATGCCCCAAAATGTGGCCAAGACAGAACCAGTCAGCATTCTACAACCCCAGACC
ACCGTTAATCCAGATCGCATCAAACAAACATTGCCATCTTCCCCAACTACCACCAAGTCCTCTCCATCTGATCCCATGACCACCTCCAGAGCTAATCAGGTAAAG
ATTATAGTTCCCAACAGCACAGCAGGTCTGATAATAGGGAAGGGAGGTGCTACTGTGAAGGCTGTAATGGAGCAGTCAGGGGCTTGGGTGCAGCTTTCCCAGAAA
CCTGATGGGATCAACTTGCAAGAGAGGGTTGTCACTGTGAGTGGAGAACCTGAACAAAACCGAAAAGCTGTTGAACTTATCATCCAGAAGATACAAGAGGATCCA
CAAAGTGGCAGCTGTCTCAATATCAGTTATGCCAATGTGACAGGTCCAGTGGCAAATTCCAATCCAACCGGATCTCCTTATGCAAACACTGCTGAAGTGTTACCA
ACTGCTGCAGCAGCTGCAGGGCTATTAGGACATGCTAACCTTGCTGGCGTTGCAGCCTTTCCAGCAGTTTTATCTGGCTTCACAGGCAATGACCTGGTGGCCATC
ACCTCTGCACTTAATACATTAGCCAGCTATGGATATAATCTCAACACTTTAGGTTTAGGTCTCAGTCAAGCAGCAGCAACAGGGGCTTTGGCTGCAGCAGCTGCC
AGTGCCAACCCAGCAGCAGCAGCAGCCAATTTATTGGCCACCTATGCCAGTGAAGCCTCAGCCAGTGGCAGCACAGCTGGTGGTACGGCGGGGACATTTGCATTA
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>NOVA1|4857|protein
MMAAAPIQQNGTHTGVPIDLDPPDSRKRPLEAPPEAGSTKRTNTGEDGQYFLKVLIPSYAAGSIIGKGGQTIVQLQKETGATIKLSKSKDFYPGTTERVCLIQGT
VEALNAVHGFIAEKIREMPQNVAKTEPVSILQPQTTVNPDRIKQTLPSSPTTTKSSPSDPMTTSRANQVKIIVPNSTAGLIIGKGGATVKAVMEQSGAWVQLSQK
PDGINLQERVVTVSGEPEQNRKAVELIIQKIQEDPQSGSCLNISYANVTGPVANSNPTGSPYANTAEVLPTAAAAAGLLGHANLAGVAAFPAVLSGFTGNDLVAI
TSALNTLASYGYNLNTLGLGLSQAAATGALAAAAASANPAAAAANLLATYASEASASGSTAGGTAGTFALGSLAAATAATNGYFGAASPLAASAILGTEKSTDGS
KDVVEIAVPENLVGAILGKGGKTLVEYQELTGARIQISKKGEFVPGTRNRKVTITGTPAATQAAQYLITQRITYEQGVRAANPQKVG
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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 (1) 0 (0) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top