AutismKB 2.0

Evidence Details for NELF


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Basic Information Top
Gene Symbol:NELF ( MGC125369 )
Gene Full Name: nasal embryonic LHRH factor
Band: 9q34.3
Quick LinksEntrez ID:26012; OMIM: 608137; Uniprot ID:NELF_HUMAN; ENSEMBL ID: ENSG00000165802; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NELF|26012|nucleotide
ATGGGCGCCGCCGCCTCCAGGAGGAGGGCGCTGAGGAGCGAGGCCATGTCCTCGGTGGCGGCCAAAGTGCGAGCAGCCCGAGCGTTTGGAGAGTACCTGTCCCAG
AGTCACCCTGAGAACCGCAACGGCGCAGATCACCTGCTGGCTGATGCCTACTCTGGCCACGACGGGTCCCCCGAGATGCAGCCGGCCCCCCAGAACAAGCGCCGC
CTGTCCCTCGTCTCCAACGGCTGCTACGAGGGCAGCCTCTCAGAGGAGCCCAGCATTAGGAAGCCCGCAGGCGAGGGCCCTCAGCCTCGAGTGTACACCATCTCT
GGGGAGCCTGCCCTGCTGCCCAGCCCTGAGGCGGAGGCCATTGAGCTGGCGGTGGTGAAGGGGCGGCGGCAGCGGCACCCTCACCATCACAGCCAGCCCCTGCGC
GCCAGCCCTGGTGGCAGCCGGGAGGACGTCAGCAGGCCCTGCCAGAGCTGGGCGGGCAGCCGCCAGGGCTCCAAGGAGTGCCCCGGATGTGCCCAGCTGGCTCCT
GGCCCCACCCCTCGGGCCTTTGGGCTGGACCAGCCACCTCTGCCTGAGACCTCCGGTCGCCGCAAGAAGCTGGAGAGGATGTACAGCGTTGACCGTGTGTCTGAC
GACATCCCTATTCGTACCTGGTTCCCCAAGGAAAATCTTTTCAGCTTCCAGACAGCAACCACAACTATGCAAGCCATCTCGGTGTTCAGGGGCTACGCGGAGAGG
AAGCGCCGGAAACGGGAGAATGATTCCGCGTCTGTAATCCAGAGGAACTTCCGCAAACACCTGCGCATGGTCGGCAGCCGGAGGGTGAAGGCCCAGACGTTCGCT
GAGCGGCGCGAGCGGAGCTTCAGCCGGTCCTGGAGCGACCCCACCCCCATGAAAGCCGACACTTCCCACGACTCCCGAGACAGCAGTGACCTGCAGAGCTCCCAC
TGCACGCTGGACGAGGCCTTCGAGGACCTGGACTGGGACACTGAGAAGGGCCTGGAGGCTGTGGCCTGCGACACCGAAGGCTTCGTGCCACCAAAGGTCATGCTC
ATTTCCTCCAAGGTGCCCAAGGCTGAGTACATCCCCACTATCATCCGCCGGGATGACCCCTCCATCATCCCCATCCTCTACGACCATGAGCACGCAACCTTCGAG
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>NELF|26012|protein
MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPEMQPAPQNKRRLSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVYTIS
GEPALLPSPEAEAIELAVVKGRRQRHPHHHSQPLRASPGGSREDVSRPCQSWAGSRQGSKECPGCAQLAPGPTPRAFGLDQPPLPETSGRRKKLERMYSVDRVSD
DIPIRTWFPKENLFSFQTATTTMQAISVFRGYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKADTSHDSRDSSDLQSSH
CTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEYIPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGPGHLYL
LKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRTLMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLD
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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 (2) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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