STRIP1

striatin interacting protein 1, the group of STRIPAK complex

Basic information

Region (hg38): 1:110031577-110074641

Previous symbols: [ "FAM40A" ]

Links

ENSG00000143093 ∙ NCBI:85369 ∙ OMIM:617918 ∙ HGNC:25916 ∙ Uniprot:Q5VSL9 ∙ 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 STRIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRIP1 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					2	2
missense			39			39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		1	2
Total	0	0	40	0	3

Variants in STRIP1

This is a list of pathogenic ClinVar variants found in the STRIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-110034674-G-T		not specified	Uncertain significance (Jul 20, 2022)
1-110034695-C-T		not specified	Uncertain significance (May 06, 2022)
1-110034711-C-A		not specified	Uncertain significance (Oct 25, 2023)
1-110037898-C-T		not specified	Uncertain significance (Feb 13, 2024)
1-110038699-G-A			Benign (Dec 31, 2019)
1-110038749-G-A		not specified	Uncertain significance (Dec 19, 2022)
1-110039201-A-G		not specified	Uncertain significance (Jul 27, 2021)
1-110039213-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-110039256-C-T		not specified	Uncertain significance (Apr 06, 2024)
1-110039266-G-T		not specified	Uncertain significance (Jan 17, 2023)
1-110039283-G-A		not specified	Uncertain significance (Nov 09, 2023)
1-110039295-A-G		not specified	Uncertain significance (Apr 05, 2023)
1-110039398-C-T		not specified	Uncertain significance (Jan 10, 2023)
1-110039453-C-G		not specified	Uncertain significance (Dec 17, 2023)
1-110039482-A-G		not specified	Uncertain significance (May 17, 2023)
1-110040645-G-A		not specified	Uncertain significance (Mar 17, 2023)
1-110040713-G-A		See cases	Uncertain significance (Oct 31, 2018)
1-110041563-A-G		not specified	Uncertain significance (Apr 04, 2023)
1-110041573-G-A		not specified	Uncertain significance (Mar 31, 2024)
1-110041618-C-T		not specified	Uncertain significance (Dec 21, 2023)
1-110041619-G-A		not specified	Uncertain significance (Jul 14, 2023)
1-110041631-G-T		not specified	Uncertain significance (Aug 13, 2021)
1-110041632-A-T		not specified	Uncertain significance (Aug 13, 2021)
1-110041791-A-G		not specified	Uncertain significance (Apr 16, 2024)
1-110043121-A-G		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRIP1	protein_coding	protein_coding	ENST00000369795	21	43065

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000125	1.00	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.38	330	476	0.693	0.0000276	5491
Missense in Polyphen		107	175.82	0.60859		1992
Synonymous	1.54	158	185	0.856	0.0000106	1600
Loss of Function	3.99	17	46.3	0.367	0.00000235	527

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000190	0.000185
European (Non-Finnish)	0.000144	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. {ECO:0000269|PubMed:21834987}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -1.31
• rvis_percentile_EVS: 4.85

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.792
• ghis: 0.633

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Strip1
• Phenotype: cellular phenotype; growth/size/body region phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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)

Zebrafish Information Network

• Gene name: strip1
• Affected structure: heart vasculature
• Phenotype tag: abnormal
• Phenotype quality: non-functional

Gene ontology

• Biological process: regulation of cell morphogenesis;cortical actin cytoskeleton organization
• Cellular component: nucleus;cytosol;extracellular exosome
• Molecular function: molecular_function;protein binding;Rho GTPase binding;protein kinase binding