SF1
Basic information
Region (hg38): 11:64764606-64778786
Previous symbols: [ "ZNF162" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (80 variants)
- Neurodevelopmental_disorder (1 variants)
- SF1-related_neurodevelopmental_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004630.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 35 | 35 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 2 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 2 | 35 | 7 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SF1 | protein_coding | protein_coding | ENST00000377387 | 13 | 14181 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.999 | 0.000569 | 120659 | 0 | 1 | 120660 | 0.00000414 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.62 | 151 | 338 | 0.446 | 0.0000202 | 4316 |
| Missense in Polyphen | 16 | 108.73 | 0.14716 | 1186 | ||
| Synonymous | -2.27 | 152 | 120 | 1.26 | 0.00000716 | 1456 |
| Loss of Function | 4.54 | 1 | 25.9 | 0.0386 | 0.00000133 | 323 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000478 | 0.0000478 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. {ECO:0000269|PubMed:10449420, ECO:0000269|PubMed:8752089, ECO:0000269|PubMed:9660765}.;
- Pathway
- Metabolism of RNA;mRNA Splicing - Major Pathway;AndrogenReceptor;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.0867
Intolerance Scores
- loftool
- 0.0225
- rvis_EVS
- -0.87
- rvis_percentile_EVS
- 10.65
Haploinsufficiency Scores
- pHI
- 0.354
- hipred
- Y
- hipred_score
- 0.831
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.995
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sf1
- Phenotype
- homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype;
Zebrafish Information Network
- Gene name
- sf1
- Affected structure
- anatomical system
- Phenotype tag
- abnormal
- Phenotype quality
- quality
Gene ontology
- Biological process
- spliceosomal complex assembly;mRNA 3'-splice site recognition;mRNA splicing, via spliceosome;male sex determination;nuclear body organization;Leydig cell differentiation;negative regulation of smooth muscle cell proliferation;regulation of steroid biosynthetic process;negative regulation of nucleic acid-templated transcription
- Cellular component
- nucleus;nucleoplasm;spliceosomal complex;ribosome;nuclear body
- Molecular function
- transcription corepressor activity;RNA binding;protein binding;zinc ion binding;identical protein binding;pre-mRNA branch point binding