Human Gene Module / Chromosome 20 / RAD21L1

RAD21L1RAD21 cohesin complex component like 1

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
4 / 0
Aliases
RAD21L1, RAD21L,  dJ545L17.2
Associated Syndromes
-
Chromosome Band
20p13
Associated Disorders
-
Relevance to Autism

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

Molecular Function

Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to RAD21L1 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo gene disruptions in children on the autistic spectrum Iossifov I , et al. (2012) Yes -
2 Recent Recommendation Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders Li J , et al. (2017) Yes -
3 Support - Woodbury-Smith M et al. (2022) Yes -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.144+1G>A - splice_site_variant Familial - - 28831199 Li J , et al. (2017)
c.160C>T p.Arg54Ter stop_gained De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.151dup p.Ile51AsnfsTer18 frameshift_variant Familial - - 28831199 Li J , et al. (2017)
c.1472A>G p.Asn491Ser missense_variant Unknown - - 35205252 Woodbury-Smith M et al. (2022)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
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

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

Reports Added
[New Scoring Scheme]
7/1/2017
icon
4

Increased from to 4

Description

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

Krishnan Probability Score

Score 0.48981570133665

Ranking 6354/25841 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
Sanders TADA Score

Score 0.4388366958726

Ranking 334/18665 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).
Original Source
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