Human Gene Module / Chromosome 6 / ELOVL2

ELOVL2ELOVL fatty acid elongase 2

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
1 / 4
Aliases
ELOVL2, SSC2
Associated Syndromes
-
Chromosome Band
6p24.2
Associated Disorders
-
Relevance to Autism

Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.

Molecular Function

The protein encoded by the ELOVL2 gene catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle.

SFARI Genomic Platforms
Reports related to ELOVL2 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children Sun C , et al. (2018) Yes -
2 Support - et al. () Yes -
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Familial Both parents Simplex 37805537 et al. ()
Common Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.3+2296C>T - intron_variant - - - 30180836 Sun C , et al. (2018)
c.4-11112A>G - intron_variant - - - 30180836 Sun C , et al. (2018)
c.4-15957C>T - intron_variant - - - 30180836 Sun C , et al. (2018)
c.*1655C>T - 3_prime_UTR_variant - - - 30180836 Sun C , et al. (2018)
SFARI Gene score
2

Strong Candidate

Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.

Score Delta: Score remained at 2

2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.

Reports Added
[New Scoring Scheme]
10/1/2018
icon
4

Increased from to 4

Description

Three SNPs in the ELOVL2 gene were found to be associated with increased ASD risk in a case-control association analysis of 243 Chinese ASD patients and 243 unrelated healthy controls in Sun et al., 2018.

Krishnan Probability Score

Score 0.56760150221839

Ranking 1167/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.000198697181598

Ranking 12716/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.91586523606609

Ranking 8389/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Zhang D Score

Score -0.19100075870811

Ranking 15221/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
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