SLF2
Basic information
Region (hg38): 10:100912963-100965134
Previous symbols: [ "C10orf6", "FAM178A" ]
Links
Phenotypes
GenCC
Source:
- Atelis syndrome 1 (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Atelis syndrome 1 | AR | Allergy/Immunology/Infectious; Cardiovascular | The condition can include susceptibility to infections, and awareness may allow early and agressive treatment of infections; Individuals have been described with congenital heart anomalies, and awareness may enable prompt recognition and management | Allergy/Immunology/Infectious; Cardiovascular; Craniofacial; Dental; Dermatologic; Hematologic; Neurologic | 36333305 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLF2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 88 | 93 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 88 | 4 | 1 |
Variants in SLF2
This is a list of pathogenic ClinVar variants found in the SLF2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-100913151-C-T | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | ||
10-100913157-C-T | Inborn genetic diseases | Uncertain significance (Aug 28, 2024) | ||
10-100913187-A-C | Inborn genetic diseases | Uncertain significance (Apr 26, 2024) | ||
10-100913248-C-G | Inborn genetic diseases | Uncertain significance (Jul 30, 2024) | ||
10-100916632-A-G | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | ||
10-100916695-G-T | Inborn genetic diseases | Uncertain significance (Sep 21, 2021) | ||
10-100916711-G-A | Inborn genetic diseases | Uncertain significance (Oct 25, 2024) | ||
10-100916720-T-C | Inborn genetic diseases | Uncertain significance (Jan 19, 2024) | ||
10-100916782-C-T | Inborn genetic diseases | Uncertain significance (Feb 15, 2023) | ||
10-100916783-G-A | Inborn genetic diseases | Uncertain significance (Mar 07, 2024) | ||
10-100916786-C-T | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | ||
10-100916819-A-G | Inborn genetic diseases | Conflicting classifications of pathogenicity (Jun 02, 2023) | ||
10-100916834-A-G | Benign (Aug 08, 2017) | |||
10-100916896-C-T | Inborn genetic diseases | Uncertain significance (Nov 08, 2024) | ||
10-100916897-C-T | Inborn genetic diseases | Uncertain significance (Jul 14, 2024) | ||
10-100916950-G-C | Inborn genetic diseases | Uncertain significance (Jun 18, 2021) | ||
10-100916953-C-T | Atelis syndrome 1 | Pathogenic (Jan 09, 2023) | ||
10-100916965-A-G | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
10-100917023-C-T | Inborn genetic diseases | Uncertain significance (Dec 06, 2024) | ||
10-100917026-G-A | Inborn genetic diseases | Uncertain significance (May 14, 2024) | ||
10-100917065-C-T | Inborn genetic diseases | Uncertain significance (Dec 12, 2023) | ||
10-100917073-A-T | Inborn genetic diseases | Uncertain significance (Oct 01, 2024) | ||
10-100917161-A-G | Inborn genetic diseases | Uncertain significance (Dec 06, 2021) | ||
10-100917218-G-T | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
10-100917239-C-T | Likely benign (Aug 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLF2 | protein_coding | protein_coding | ENST00000370269 | 19 | 52568 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000289 | 1.00 | 125717 | 0 | 31 | 125748 | 0.000123 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.970 | 528 | 595 | 0.888 | 0.0000291 | 7750 |
Missense in Polyphen | 123 | 178.29 | 0.68989 | 2465 | ||
Synonymous | 0.0708 | 211 | 212 | 0.994 | 0.0000102 | 2243 |
Loss of Function | 4.17 | 19 | 51.2 | 0.371 | 0.00000248 | 726 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000474 | 0.0000462 |
European (Non-Finnish) | 0.000155 | 0.000149 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000428 | 0.000392 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication- coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions (PubMed:25931565). {ECO:0000269|PubMed:25931565}.;
Recessive Scores
- pRec
- 0.0954
Intolerance Scores
- loftool
- rvis_EVS
- 0.36
- rvis_percentile_EVS
- 74.66
Haploinsufficiency Scores
- pHI
- 0.120
- hipred
- N
- hipred_score
- 0.328
- ghis
- 0.536
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Slf2
- Phenotype
Gene ontology
- Biological process
- DNA repair;cellular response to DNA damage stimulus;positive regulation of protein complex assembly;positive regulation of maintenance of mitotic sister chromatid cohesion;protein localization to site of double-strand break;positive regulation of double-strand break repair
- Cellular component
- chromatin;extracellular space;nucleus;site of double-strand break;intracellular membrane-bounded organelle
- Molecular function
- protein binding;ubiquitin protein ligase binding;protein-containing complex binding