AutismKB 2.0

Evidence Details for NEFM


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Basic Information Top
Gene Symbol:NEFM ( NEF3,NF-M,NFM )
Gene Full Name: neurofilament, medium polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4741; OMIM: 162250; Uniprot ID:NFM_HUMAN; ENSEMBL ID: ENSG00000104722; HGNC ID: 7734
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NEFM|4741|nucleotide
ATGGCTCGTCATTTGCGCGAATACCAGGACCTCCTCAACGTCAAGATGGCTCTGGATATAGAAATCGCTGCGTACAGAAAACTCCTGGAGGGTGAAGAGACTAGA
TTTAGCACATTTGCAGGAAGCATCACTGGGCCACTGTATACACACCGACCCCCAATCACAATATCCAGTAAGATTCAGAAACCCAAGGTGGAAGCTCCCAAGCTT
AAGGTCCAACACAAATTTGTCGAGGAGATCATAGAGGAAACCAAAGTGGAGGATGAGAAGTCAGAAATGGAAGAGGCCCTGACAGCCATTACAGAGGAATTGGCC
GTTTCCATGAAGGAAGAGAAGAAAGAAGCAGCAGAAGAAAAGGAAGAGGAACCCGAAGCTGAAGAAGAAGAAGTAGCTGCCAAAAAGTCTCCAGTGAAAGCAACT
GCACCTGAAGTTAAAGAAGAGGAAGGGGAAAAGGAGGAAGAAGAAGGCCAGGAAGAAGAGGAGGAAGAAGATGAGGGAGCTAAGTCAGACCAAGCCGAAGAGGGA
GGATCCGAGAAGGAAGGCTCTAGTGAAAAAGAGGAAGGTGAGCAGGAAGAAGGAGAAACAGAAGCTGAAGCTGAAGGAGAGGAAGCCGAAGCTAAAGAGGAAAAG
AAAGTGGAGGAAAAGAGTGAGGAAGTGGCTACCAAGGAGGAGCTGGTGGCAGATGCCAAGGTGGAAAAGCCAGAAAAAGCCAAGTCTCCTGTGCCAAAATCACCA
GTGGAAGAGAAAGGCAAGTCTCCTGTGCCCAAGTCACCAGTGGAAGAGAAAGGCAAGTCTCCTGTGCCCAAGTCACCAGTGGAAGAGAAAGGCAAGTCTCCTGTG
CCGAAATCACCAGTGGAAGAGAAAGGCAAGTCTCCTGTGTCAAAATCACCAGTGGAAGAGAAAGCCAAATCTCCTGTGCCAAAATCACCAGTGGAAGAGGCAAAG
TCAAAAGCAGAAGTGGGGAAAGGTGAACAGAAAGAGGAAGAAGAAAAGGAAGTCAAGGAAGCTCCCAAGGAAGAGAAGGTAGAGAAAAAGGAAGAGAAACCAAAG
GATGTGCCAGAGAAGAAGAAAGCTGAGTCCCCTGTAAAGGAGGAAGCTGTGGCAGAGGTGGTCACCATCACCAAATCGGTAAAGGTGCACTTGGAGAAAGAGACC
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>NEFM|4741|protein
MARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSITGPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEELA
VSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEEDEGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEK
KVEEKSEEVATKEELVADAKVEKPEKAKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVSKSPVEEKAKSPVPKSPVEEAK
SKAEVGKGEQKEEEEKEVKEAPKEEKVEKKEEKPKDVPEKKKAESPVKEEAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGEGGSEEEGSDKGAKGSR
KEDIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPADEKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKVE
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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) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 6 (6)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top