SFI1

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	3 clinvar		6
missense			240 clinvar	35 clinvar	2 clinvar	277
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	0	252	38	2	292

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 166 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001007467.3	RefSeq	NP_001007468.1	32	MANE Select
ENST00000400288.7	Ensembl	ENSP00000383145.2	32	MANE Select
NM_001258325.1	RefSeq	NP_001245254.1	30	Standard
NM_001258326.2	RefSeq	NP_001245255.1	30	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

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

Molecular Function

protein binding
phosphatase binding

Cellular Component

centrosome
centriole
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000400288
Coding exons: 32
Length: 129899
Individuals with no LoFs: 123849
Homozygous LoFs: 5
Heterozygous LoFs: 974
Defined: 124828
p: 0.00393

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.543	760	719	1.06	0.0000452	7980
Missense (PolyPhen)		213	194.1	1.0974		2629
Synonymous	0.0267	267	268	0.998	0.0000149	2381
Loss of Function	1.43	75	89.6	0.837	0.00000481	879

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0039	0.0037	notable
Latino/Admixed American	0.0020	0.0020	notable
Ashkenazi Jewish	0.0023	0.0023	notable
East Asian	0.0019	0.0019	notable
Finnish	0.0082	0.0081	notable
European (Non-Finnish)	0.0039	0.0038	notable
South Asian	0.0053	0.0052	notable
Other	0.0049	0.0046	notable

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.0911

Intolerance Scores

LoFtool: 0.986
RVIS EVS: 0.6
RVIS percentile EVS: 82.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.767

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High