Human Gene Module / Chromosome 12 / FBRSL1

FBRSL1fibrosin like 1

SFARI Gene Score
S
Syndromic Syndromic
Autism Reports / Total Reports
2 / 3
Rare Variants / Common Variants
5 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
12q24.33
Associated Disorders
ASD
Relevance to Autism

Ufartes et al., 2020 reported three individuals with truncating variants in the FBRSL1 gene presenting with a syndrome characterized by global developmental delay/intellectual disability, speech delay, autistic behavior, microcephaly, swallowing difficulties, postnatal growth retardation, skeletal abnormalities, respiratory failure, and dysmorphic features.

Molecular Function

SFARI Genomic Platforms
Reports related to FBRSL1 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome Ufartes R et al. (2020) No Autistic behavior
2 Support - Zhou X et al. (2022) Yes -
3 Support - Cirnigliaro M et al. (2023) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.487C>T p.Gln163Ter stop_gained De novo - - 32424618 Ufartes R et al. (2020)
c.219G>A p.Glu73%3D stop_gained Unknown Not maternal - 32424618 Ufartes R et al. (2020)
c.1670G>A p.Arg557Gln missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.581_603del p.Ser194LysfsTer6 frameshift_variant De novo - - 32424618 Ufartes R et al. (2020)
c.1681dup p.Ala561GlyfsTer3 frameshift_variant Familial Maternal Multiplex 37506195 Cirnigliaro M et al. (2023)
Common Variants  

No common variants reported.

SFARI Gene score
S

Syndromic

Score Delta: Score remained at S

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

Krishnan Probability Score

Score 0.44765821412136

Ranking 12088/25841 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.
Sanders TADA Score

Score 0.94174642248295

Ranking 15047/18665 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 -0.058738784389628

Ranking 10743/20870 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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