FSIP1

fibrous sheath interacting protein 1

Basic information

Region (hg38): 15:39588356-39782841

Links

ENSG00000150667 ∙ NCBI:161835 ∙ OMIM:615795 ∙ HGNC:21674 ∙ Uniprot:Q8NA03 ∙ 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 FSIP1 gene.

• Inborn genetic diseases (45 variants)
• not provided (7 variants)
• not specified (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSIP1 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				1		1
missense			25	5	1	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			15	4	5	24
Total	0	0	40	10	6

Variants in FSIP1

This is a list of pathogenic ClinVar variants found in the FSIP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-39588598-G-A		not specified	Uncertain significance (May 08, 2023)
15-39588604-G-A		not specified	Uncertain significance (Aug 06, 2021)
15-39588617-C-T		not specified • THBS1-related disorder	Benign (Oct 21, 2019)
15-39588621-A-G		not specified • THBS1-related disorder	Benign (Oct 21, 2019)
15-39589039-C-T		not specified	Uncertain significance (Oct 25, 2022)
15-39589230-A-G		THBS1-related disorder	Likely benign (Apr 01, 2019)
15-39589264-C-A		not specified	Uncertain significance (Jan 04, 2022)
15-39589325-G-C		not specified	Uncertain significance (May 05, 2022)
15-39589817-C-T		not specified	Uncertain significance (Mar 23, 2022)
15-39589843-C-T			Likely benign (Oct 19, 2018)
15-39589858-C-T		THBS1-related disorder	Likely benign (Jul 01, 2019)
15-39589871-T-C		not specified	Uncertain significance (Aug 02, 2023)
15-39589890-A-G		not specified	Uncertain significance (Oct 26, 2022)
15-39589946-G-A		not specified	Uncertain significance (Nov 17, 2023)
15-39591205-C-G		not specified	Uncertain significance (Jan 12, 2024)
15-39591206-C-T		not specified	Uncertain significance (May 24, 2023)
15-39591226-T-C		THBS1-related disorder	Likely benign (Jul 22, 2019)
15-39591254-C-T		not specified	Uncertain significance (Dec 19, 2022)
15-39591322-C-T		THBS1-related disorder	Likely benign (Sep 19, 2019)
15-39591333-C-A		not specified	Uncertain significance (Aug 08, 2023)
15-39591554-G-C		not specified	Uncertain significance (Feb 02, 2022)
15-39592771-C-T			Likely benign (Jul 01, 2022)
15-39593085-C-T		THBS1-related disorder	Likely benign (Nov 25, 2019)
15-39593094-G-C		not specified	Uncertain significance (Oct 06, 2022)
15-39593100-T-C		not specified • THBS1-related disorder	Benign (Oct 22, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FSIP1	protein_coding	protein_coding	ENST00000350221	11	182800

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.70e-14	0.0661	125448	0	300	125748	0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.437	309	288	1.07	0.0000138	3847
Missense in Polyphen		80	75.984	1.0528		1073
Synonymous	0.432	94	99.5	0.945	0.00000482	1020
Loss of Function	0.570	22	25.1	0.877	0.00000105	378

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000911	0.000912
Ashkenazi Jewish	0.00	0.00
East Asian	0.000502	0.000489
Finnish	0.000740	0.000739
European (Non-Finnish)	0.00198	0.00197
Middle Eastern	0.000502	0.000489
South Asian	0.000996	0.000980
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0765

Intolerance Scores

• loftool: 0.919
• rvis_EVS: 1.56
• rvis_percentile_EVS: 95.66

Haploinsufficiency Scores

• pHI: 0.0918
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fsip1