AutismKB 2.0

Evidence Details for NFE2L3


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Basic Information Top
Gene Symbol:NFE2L3 ( NRF3 )
Gene Full Name: nuclear factor (erythroid-derived 2)-like 3
Band: 7p15.2
Quick LinksEntrez ID:9603; OMIM: 604135; Uniprot ID:NF2L3_HUMAN; ENSEMBL ID: ENSG00000050344; HGNC ID: 7783
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFE2L3|9603|nucleotide
ATGAAGCACCTGAAGCGGTGGTGGTCGGCCGGCGGCGGCCTCCTGCACCTCACCCTCCTGCTGAGCTTGGCGGGGCTCCGCGTAGACCTAGATCTTTACCTGCTG
CTGCCGCCGCCCACCCTGCTGCAGGACGAGCTGCTGTTCCTGGGCGGCCCGGCCAGCTCCGCCTACGCGCTCAGCCCCTTCTCGGCCTCGGGAGGGTGGGGGCGC
GCGGGCCACTTGCACCCCAAGGGCCGGGAGCTGGACCCTGCCGCGCCGCCCGAGGGCCAGCTGCTCCGGGAGGTGCGCGCGCTCGGGGTCCCCTTCGTCCCTCGC
ACCAGCGTGGATGCATGGCTGGTGCACAGCGTGGCTGCCGGGAGCGCGGACGAGGCCCACGGGCTGCTCGGCGCCGCCGCCGCCTCGTCCACCGGAGGAGCCGGC
GCCAGCGTGGACGGCGGCAGCCAGGCTGTGCAGGGGGGCGGCGGGGACCCCCGAGCGGCTCGGAGTGGCCCCTTGGACGCCGGGGAAGAGGAGAAGGCACCCGCG
GAACCGACGGCTCAGGTGCCGGACGCTGGCGGATGTGCGAGCGAGGAGAATGGGGTACTAAGAGAAAAGCACGAAGCTGTGGATCATAGTTCCCAGCATGAGGAA
AATGAAGAAAGGGTGTCAGCCCAGAAGGAGAACTCACTTCAGCAGAATGATGATGATGAAAACAAAATAGCAGAGAAACCTGACTGGGAGGCAGAAAAGACCACT
GAATCTAGAAATGAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGGCATC
TCATTGGGAGATATTCCTCTTCCAGGCAGTATCAGTGATGGCATGAATTCTTCAGCACATTATCATGTAAACTTCAGCCAGGCTATAAGTCAGGATGTGAATCTT
CATGAGGCCATCTTGCTTTGTCCCAACAATACATTTAGAAGAGATCCAACAGCAAGGACTTCACAGTCACAAGAACCATTTCTGCAGTTAAATTCTCATACCACC
AATCCTGAGCAAACCCTTCCTGGAACTAATTTGACAGGATTTCTTTCACCGGTTGACAATCATATGAGGAATCTAACAAGCCAAGACCTACTGTATGACCTTGAC
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>NFE2L3|9603|protein
MKHLKRWWSAGGGLLHLTLLLSLAGLRVDLDLYLLLPPPTLLQDELLFLGGPASSAYALSPFSASGGWGRAGHLHPKGRELDPAAPPEGQLLREVRALGVPFVPR
TSVDAWLVHSVAAGSADEAHGLLGAAAASSTGGAGASVDGGSQAVQGGGGDPRAARSGPLDAGEEEKAPAEPTAQVPDAGGCASEENGVLREKHEAVDHSSQHEE
NEERVSAQKENSLQQNDDDENKIAEKPDWEAEKTTESRNERHLNGTDTSFSLEDLFQLLSSQPENSLEGISLGDIPLPGSISDGMNSSAHYHVNFSQAISQDVNL
HEAILLCPNNTFRRDPTARTSQSQEPFLQLNSHTTNPEQTLPGTNLTGFLSPVDNHMRNLTSQDLLYDLDINIFDEINLMSLATEDNFDPIDVSQLFDEPDSDSG
LSLDSSHNNTSVIKSNSSHSVCDEGAIGYCTDHESSSHHDLEGAVGGYYPEPSKLCHLDQSDSDFHGDLTFQHVFHNHTYHLQPTAPESTSEPFPWPGKSQKIRS
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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