AutismKB 2.0

Evidence Details for NOV


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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
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>NOV|4856|protein
MQSVQSTSFCLRKQCLCLTFLLLHLLGQVAATQRCPPQCPGRCPATPPTCAPGVRAVLDGCSCCLVCARQRGESCSDLEPCDESSGLYCDRSADPSNQTGICTAV
EGDNCVFDGVIYRSGEKFQPSCKFQCTCRDGQIGCVPRCQLDVLLPEPNCPAPRKVEVPGECCEKWICGPDEEDSLGGLTLAAYRPEATLGVEVSDSSVNCIEQT
TEWTACSKSCGMGFSTRVTNRNRQCEMLKQTRLCMVRPCEQEPEQPTDKKGKKCLRTKKSLKAIHLQFKNCTSLHTYKPRFCGVCSDGRCCTPHNTKTIQAEFQC
SPGQIVKKPVMVIGTCTCHTNCPKNNEAFLQELELKTTRGKM

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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) 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