Human Gene Module / Chromosome 13 / SLITRK5

SLITRK5SLIT and NTRK like family member 5

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
5 / 9
Rare Variants / Common Variants
11 / 0
Aliases
SLITRK5, LRRC11,  bA364G4.2
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Functional
Chromosome Band
13q31.2
Associated Disorders
-
Relevance to Autism

A maternally-inherited nonsense variant in the SLITRK5 gene was identified in a male ASD proband, but not in this proband's ASD-affected brother, in Tammimies et al., 2015. Rare de novo missense variants that were predicted to be possibly damaging, as well as a de novo synonymous variant predicted to change an exonic splicing regulator, affect a DNase I hypersensitive site, and result in the gain of a miRNA target, were identified in the SLITRK5 gene in ASD probands from the Simons Simplex Collection (Iossifov et al., 2012; Iossifov et al., 2014; Takata et al., 2016). SLITRK5 variants that resulted in impaired synapse formation were identified in OCD probands in Song et al., 2017. Loss of Slitrk5 had previously been shown to result in OCD-like behaviors in mice, which manifests as excessive self-grooming and increased anxiety-like behaviors (Shmelkov et al., 2010).

Molecular Function

This gene enocdes a protein that suppresses neurite outgrowth; it is expressed predominantly in the cerebral cortex of the brain but also at low levels in the spinal cord and medulla.

Reports related to SLITRK5 (9 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Slitrk5 deficiency impairs corticostriatal circuitry and leads to obsessive-compulsive-like behaviors in mice. Shmelkov SV , et al. (2010) No -
2 Support De novo gene disruptions in children on the autistic spectrum. Iossifov I , et al. (2012) Yes -
3 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
4 Support Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015) Yes -
5 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
6 Support Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Karaca E , et al. (2015) No Microcephaly
7 Recent Recommendation De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. Takata A , et al. (2016) No -
8 Support Rare Synaptogenesis-Impairing Mutations in SLITRK5 Are Associated with Obsessive Compulsive Disorder. Song M , et al. (2017) No -
9 Support Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Guo H , et al. (2018) Yes -
Rare Variants   (11)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- p.Asn99Lys missense_variant Unknown - Unknown 28085938 Song M , et al. (2017)
c.175G>T p.Gly59Cys missense_variant De novo - Simplex 30504930 Guo H , et al. (2018)
c.976C>T p.Pro326Ser missense_variant De novo - Simplex 30504930 Guo H , et al. (2018)
c.1798G>A p.Glu600Lys missense_variant Unknown - Unknown 28085938 Song M , et al. (2017)
c.2552C>T p.Ala851Val missense_variant Unknown - Unknown 28085938 Song M , et al. (2017)
c.2625G>A p.(=) synonymous_variant De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.167A>G p.Glu56Gly missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.224A>G p.Glu75Gly missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.2164_2166delGGC p.Gly722del inframe_deletion Unknown - Unknown 28085938 Song M , et al. (2017)
c.1695G>A p.Trp565Ter stop_gained Familial Maternal Multiplex 26325558 Tammimies K , et al. (2015)
c.[2515G>C];[2515G>C] p.[Glu839Gln];[Glu839Gln] missense_variant;missense_variant Familial Both parents Simplex 26539891 Karaca E , et al. (2015)
Common Variants  

No common variants reported.

CNVs associated with SLITRK5(1 CNVs)
13q31.2 6 Deletion-Duplication 11  /  29
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
SLC39A4 solute carrier family 39 (zinc transporter), member 4 Human Protein Binding 55630 Q6P5W5
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