Human Gene Module / Chromosome 11 / RSF1

RSF1remodeling and spacing factor 1

SFARI Gene Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 5
Rare Variants / Common Variants
13 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
11q14.1
Associated Disorders
-
Relevance to Autism

Jost et al., 2026 identified a total of 11 unrelated individuals harboring predominantly de novo heterozygous variants in the RSF1 gene; all individuals presented with a neurodevelopmental disorder, whether intellectual disability, autism spectrum disorder, or developmental delay, and from the seven individuals with detailed clinical information, unspecific and inconsistent associated features were described, including craniofacial dysmorphism, musculoskeletal, digestive, vision, and tone-associated phenotypes, epilepsy, and brain MRI anomalies. De novo missense variants in the RSF1 gene have previously been identified in ASD probands from the Autism Sequencing Consortium and the SPARK cohort (De Rubeis et al., 2014; Zhou et al., 2022).

Molecular Function

This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to RSF1 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
2 Support Prevalence and architecture of de novo mutations in developmental disorders et al. (2017) No -
3 Support - Bruno LP et al. (2021) No Stereotypy
4 Support - Zhou X et al. (2022) Yes -
5 Primary - Céline Jost et al. () No ASD, epilepsy/seizures
Rare Variants   (13)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2983G>T p.Glu995Ter stop_gained De novo - - 41606215 Céline Jost et al. ()
c.1636A>G p.Met546Val missense_variant De novo - Simplex 28135719 et al. (2017)
c.2896C>T p.Arg966Ter stop_gained De novo - Simplex 41606215 Céline Jost et al. ()
c.4066A>T p.Lys1356Ter stop_gained De novo - Simplex 41606215 Céline Jost et al. ()
c.1385C>G p.Thr462Arg missense_variant De novo - Unknown 35982159 Zhou X et al. (2022)
c.2896C>T p.Arg966Ter stop_gained Familial Paternal - 41606215 Céline Jost et al. ()
c.3839A>G p.Glu1280Gly missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.3217G>C p.Glu1073Gln missense_variant De novo - Simplex 34948243 Bruno LP et al. (2021)
c.2765G>A p.Arg922His missense_variant De novo - Simplex 41606215 Céline Jost et al. ()
c.2778G>A p.Met926Ile missense_variant De novo - Simplex 41606215 Céline Jost et al. ()
c.3133+1G>T - splice_site_variant Familial Maternal Simplex 41606215 Céline Jost et al. ()
c.748_755del p.Ser250AspfsTer4 frameshift_variant De novo - - 41606215 Céline Jost et al. ()
c.341T>C p.Met114Thr missense_variant De novo - Multiplex 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
3

Suggestive Evidence

criteria met
See SFARI Gene'scoring criteria
3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

4/1/2026
3

Initial score established: 3

Krishnan Probability Score

Score 0.47563172227838

Ranking 8557/25841 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 0.99999996257039

Ranking 166/18225 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
Sanders TADA Score

Score 0.83340429228112

Ranking 2942/18665 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
Zhang D Score

Score 0.412724220496

Ranking 1314/20870 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
Submit New Gene

Report an Error