GeneBe

SFI1

SFI1 centrin binding protein, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 22:31488688-31618588

Links

ENSG00000198089 ∙ NCBI:9814 ∙ OMIM:612765 ∙ HGNC:29064 ∙ Uniprot:A8K8P3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SFI1 gene.

  • not_specified (235 variants)
  • not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SFI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001007467.3. 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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
202
clinvar
33
clinvar
2
clinvar
 237
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 202 36 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SFI1protein_codingprotein_codingENST00000400288 32129899
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
5.94e-440.00015212384959741248280.00393
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5437607191.060.00004527980
Missense in Polyphen213194.11.09742629
Synonymous0.02672672680.9980.00001492381
Loss of Function1.437589.60.8370.00000481879

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.005930.00578
Ashkenazi Jewish0.002290.00229
East Asian0.001950.00195
Finnish0.008190.00806
European (Non-Finnish)0.003910.00383
Middle Eastern0.001950.00195
South Asian0.005310.00524
Other0.004890.00462

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in the dynamic structure of centrosome- associated contractile fibers via its interaction with CETN2. {ECO:0000269|PubMed:16956364}.;
Pathway
Regulation of PLK1 Activity at G2/M Transition;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

pRec
0.0911

Intolerance Scores

loftool
0.986
rvis_EVS
0.6
rvis_percentile_EVS
82.53

Haploinsufficiency Scores

pHI
0.200
hipred
N
hipred_score
0.425
ghis
0.497

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.767

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Sfi1
Phenotype

Gene ontology

Biological process
G2/M transition of mitotic cell cycle;regulation of G2/M transition of mitotic cell cycle;negative regulation of phosphatase activity;ciliary basal body-plasma membrane docking
Cellular component
centrosome;centriole;cytosol
Molecular function
protein binding;phosphatase binding