Human Gene Module / Chromosome 22 / PRR14L

PRR14Lproline rich 14 like

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
5 / 6
Rare Variants / Common Variants
6 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
22q12.2
Associated Disorders
-
Relevance to Autism

Three de novo loss-of-function (LoF) variants and two de novo missense variants in the PRR14L gene have been identified in ASD probands from the MSSNG cohort, the Autism Sequencing Consortium, and the SPARK cohort (Yuen et al., 2017; Satterstrom et al., 2020; Zhou et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified PRR14L as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

Although the molecular function of the protein encoded by this gene is thus far unknown, Chase et al., 2019 reported an association of chromosome 22 acquired uniparental disomy (aUPD) with mutations that delete the C-terminus of PRR14L in patients with chronic myelomonocytic leukemia (CMML), related myeloid neoplasms and age-related clonal hematopoiesis (ARCH); RNA-Seq and cellular localization studies in this report suggested a role for PRR14L in cell division.

External Links
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Reports related to PRR14L (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
2 Support - Chase A et al. (2019) No Chronic myelomonocytic leukemia, related myeloid n
3 Support Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
4 Support - Zhou X et al. (2022) Yes -
5 Recent Recommendation - Trost B et al. (2022) Yes -
6 Support - Soo-Whee Kim et al. (2024) Yes -
Rare Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.980A>T p.His327Leu missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.1342C>T p.Gln448Ter stop_gained De novo - Multiplex 35982159 Zhou X et al. (2022)
c.4920T>A p.Cys1640Ter stop_gained De novo - Simplex 28263302 C Yuen RK et al. (2017)
c.6016A>C p.Arg2006= synonymous_variant De novo - - 39334436 Soo-Whee Kim et al. (2024)
c.4231G>A p.Ala1411Thr missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.2461dup p.Ile821AsnfsTer5 frameshift_variant De novo - - 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

Score Delta: Score remained at 1

criteria met
See SFARI Gene'scoring criteria
1

High Confidence

See all Category 1 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.

1/1/2023
icon
1

Increased from to 1

Krishnan Probability Score

Score 0.44583606040712

Ranking 15179/25841 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.
Original Source
ExAC Score

Score 0.98499916692553

Ranking 1983/18225 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
Original Source
Zhang D Score

Score 0.61089400713771

Ranking 60/20870 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.
Original Source
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