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.

• not_specified (90 variants)
• not_provided (5 variants)
• See_cases (1 variants)

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. These statistics are base on transcript: NM_000033088.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			90			90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	90	1	2

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