Human Gene Module / Chromosome 8 / FABP5

FABP5fatty acid binding protein 5 (psoriasis-associated)

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 8
Rare Variants / Common Variants
5 / 0
Aliases
FABP5, EFABP,  E-FABP,  PAFABP,  PA-FABP,  FABP5
Associated Syndromes
-
Chromosome Band
8q21.13
Associated Disorders
SCZ
Relevance to Autism

Some rare and some common variants in the FABP5 gene were found in autistic patients. However, none were found to have significant genetic association with autism (Maekawa et al., 2010).

Molecular Function

The encoded protein binds long-chain fatty acids and other hydrophobic ligands

SFARI Genomic Platforms
Reports related to FABP5 (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited The mammalian fatty acid-binding protein multigene family: molecular and genetic insights into function Hertzel AV and Bernlohr DA (2000) No -
2 Highly Cited Molecular cloning and expression of a novel keratinocyte protein (psoriasis-associated fatty acid-binding protein [PA-FABP]) that is highly up-regulated in psoriatic skin and that shares similarity to fatty acid-binding proteins Madsen P , et al. (1992) No -
3 Recent Recommendation Identification of intracellular carriers for the endocannabinoid anandamide Kaczocha M , et al. (2009) No -
4 Recent Recommendation Expression of fatty acid-binding proteins in adult hippocampal neurogenic niche of postischemic monkeys Boneva NB , et al. (2009) No -
5 Primary Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects Maekawa M , et al. (2010) Yes SCZ
6 Support Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies Shimamoto C , et al. (2014) Yes SCZ
7 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
8 Support - Zhou X et al. (2022) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
C>T - intron_variant - - - 20057506 Maekawa M , et al. (2010)
c.340G>C p.Gly114Arg missense_variant - - - 20057506 Maekawa M , et al. (2010)
c.331T>C p.Leu111= synonymous_variant - - - 20057506 Maekawa M , et al. (2010)
c.102A>G p.Lys34%3D synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.253_256del p.Thr85SerfsTer22 frameshift_variant Familial Maternal Multiplex 31398340 Ruzzo EK , et al. (2019)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

One report of association without independent validation (Maekawa et al., 2010).

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
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2

Decreased from 3 to 2

Description

One report of association without independent validation (Maekawa et al., 2010).

10/1/2019
4
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3

Decreased from 4 to 3

New Scoring Scheme
Description

One report of association without independent validation (Maekawa et al., 2010).

Reports Added
[New Scoring Scheme]
7/1/2019
4
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4

Decreased from 4 to 4

Description

One report of association without independent validation (Maekawa et al., 2010).

4/1/2014
No data
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4

Increased from No data to 4

Description

One report of association without independent validation (Maekawa et al., 2010).

Krishnan Probability Score

Score 0.44935774089908

Ranking 11194/25841 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 0.09583820082204

Ranking 7907/18225 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 0.88364437051337

Ranking 5069/18665 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).
Larsen Cumulative Evidence Score

Score 0

Ranking 445/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score -0.74709985958603

Ranking 20508/20870 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.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
S100A7 S100 calcium binding protein A7 Human Protein Binding 6278 P31151
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