AutismKB 2.0

Evidence Details for NOV


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NOV ( CCN3,IGFBP9 )
Gene Full Name: nephroblastoma overexpressed gene
Band: 8q24.12
Quick LinksEntrez ID:4856; OMIM: 164958; Uniprot ID:NOV_HUMAN; ENSEMBL ID: ENSG00000136999; HGNC ID: 7885
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOV|4856|nucleotide
ATGCAGAGTGTGCAGAGCACGAGCTTTTGTCTCCGAAAGCAGTGCCTTTGCCTGACCTTCCTGCTTCTCCATCTCCTGGGACAGGTCGCTGCGACTCAGCGCTGC
CCTCCCCAGTGCCCGGGCCGGTGCCCTGCGACGCCGCCGACCTGCGCCCCCGGGGTGCGCGCGGTGCTGGACGGCTGCTCATGCTGTCTGGTGTGTGCCCGCCAG
CGTGGCGAGAGCTGCTCAGATCTGGAGCCATGCGACGAGAGCAGTGGCCTCTACTGTGATCGCAGCGCGGACCCCAGCAACCAGACTGGCATCTGCACGGCGGTA
GAGGGAGATAACTGTGTGTTCGATGGGGTCATCTACCGCAGTGGAGAGAAATTTCAGCCAAGCTGCAAATTCCAGTGCACCTGCAGAGATGGGCAGATTGGCTGT
GTGCCCCGCTGTCAGCTGGATGTGCTACTGCCTGAGCCTAACTGCCCAGCTCCAAGAAAAGTTGAGGTGCCTGGAGAGTGCTGTGAAAAGTGGATCTGTGGCCCA
GATGAGGAGGATTCACTGGGAGGCCTTACCCTTGCAGCTTACAGGCCAGAAGCCACCCTAGGAGTAGAAGTCTCTGACTCAAGTGTCAACTGCATTGAACAGACC
ACAGAGTGGACAGCATGCTCCAAGAGCTGTGGTATGGGGTTCTCCACCCGGGTCACCAATAGGAACCGTCAATGTGAGATGCTGAAACAGACTCGGCTCTGCATG
GTGCGGCCCTGTGAACAAGAGCCAGAGCAGCCAACAGATAAGAAAGGAAAAAAGTGTCTCCGCACCAAGAAGTCACTCAAAGCCATCCACCTGCAGTTCAAGAAC
TGCACCAGCCTGCACACCTACAAGCCCAGGTTCTGTGGGGTCTGCAGTGATGGCCGCTGCTGCACTCCCCACAATACCAAAACCATCCAGGCAGAGTTTCAGTGC
TCCCCAGGGCAAATAGTCAAGAAGCCAGTGATGGTCATTGGGACCTGCACCTGTCACACCAACTGTCCTAAGAACAATGAGGCCTTCCTCCAGGAGCTGGAGCTG
AAGACTACCAGAGGGAAAATGTAA
Show »

>NOV|4856|protein
MQSVQSTSFCLRKQCLCLTFLLLHLLGQVAATQRCPPQCPGRCPATPPTCAPGVRAVLDGCSCCLVCARQRGESCSDLEPCDESSGLYCDRSADPSNQTGICTAV
EGDNCVFDGVIYRSGEKFQPSCKFQCTCRDGQIGCVPRCQLDVLLPEPNCPAPRKVEVPGECCEKWICGPDEEDSLGGLTLAAYRPEATLGVEVSDSSVNCIEQT
TEWTACSKSCGMGFSTRVTNRNRQCEMLKQTRLCMVRPCEQEPEQPTDKKGKKCLRTKKSLKAIHLQFKNCTSLHTYKPRFCGVCSDGRCCTPHNTKTIQAEFQC
SPGQIVKKPVMVIGTCTCHTNCPKNNEAFLQELELKTTRGKM

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.8887 Down 36.649
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1787186
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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