AutismKB 2.0

Evidence Details for ELOVL6


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Basic Information Top
Gene Symbol:ELOVL6 ( FACE,FAE,FLJ23378,LCE,MGC5487 )
Gene Full Name: ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
Band: 4q25
Quick LinksEntrez ID:79071; OMIM: 611546; Uniprot ID:ELOV6_HUMAN; ENSEMBL ID: ENSG00000170522; HGNC ID: 15829
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELOVL6|79071|nucleotide
ATGAACATGTCAGTGTTGACTTTACAAGAATATGAATTCGAAAAGCAGTTCAACGAGAATGAAGCCATCCAATGGATGCAGGAAAACTGGAAGAAATCTTTCCTG
TTTTCTGCTCTGTATGCTGCCTTTATATTCGGTGGTCGGCACCTAATGAATAAACGAGCAAAGTTTGAACTGAGGAAGCCATTAGTGCTCTGGTCTCTGACCCTT
GCAGTCTTCAGTATATTCGGTGCTCTTCGAACTGGTGCTTATATGGTGTACATTTTGATGACCAAAGGCCTGAAGCAGTCAGTTTGTGACCAGGGTTTTTACAAT
GGACCTGTCAGCAAATTCTGGGCTTATGCATTTGTGCTAAGCAAAGCACCCGAACTAGGAGATACAATATTCATTATTCTGAGGAAGCAGAAGCTGATCTTCCTG
CACTGGTATCACCACATCACTGTGCTCCTGTACTCTTGGTACTCCTACAAAGACATGGTTGCCGGGGGAGGTTGGTTCATGACTATGAACTATGGCGTGCACGCC
GTGATGTACTCTTACTATGCCTTGCGGGCGGCAGGTTTCCGAGTCTCCCGGAAGTTTGCCATGTTCATCACCTTGTCCCAGATCACTCAGATGCTGATGGGCTGT
GTGGTTAACTACCTGGTCTTCTGCTGGATGCAGCATGACCAGTGTCACTCTCACTTTCAGAACATCTTCTGGTCCTCACTCATGTACCTCAGCTACCTTGTGCTC
TTCTGCCATTTCTTCTTTGAGGCCTACATCGGCAAAATGAGGAAAACAACGAAAGCTGAATAG



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>ELOVL6|79071|protein
MNMSVLTLQEYEFEKQFNENEAIQWMQENWKKSFLFSALYAAFIFGGRHLMNKRAKFELRKPLVLWSLTLAVFSIFGALRTGAYMVYILMTKGLKQSVCDQGFYN
GPVSKFWAYAFVLSKAPELGDTIFIILRKQKLIFLHWYHHITVLLYSWYSYKDMVAGGGWFMTMNYGVHAVMYSYYALRAAGFRVSRKFAMFITLSQITQMLMGC
VVNYLVFCWMQHDQCHSHFQNIFWSSLMYLSYLVLFCHFFFEAYIGKMRKTTKAE


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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 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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