MYRIP

myosin VIIA and Rab interacting protein, the group of A-kinase anchoring proteins

Basic information

Region (hg38): 3:39808913-40260321

Links

ENSG00000170011 ∙ NCBI:25924 ∙ OMIM:611790 ∙ HGNC:19156 ∙ Uniprot:Q8NFW9 ∙ 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 MYRIP gene.

• Inborn genetic diseases (38 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYRIP 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	2
missense			35	3	1	39
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	36	4	2

Variants in MYRIP

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

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

Position	Type	Phenotype	Significance	ClinVar
3-39900885-A-T		not specified	Uncertain significance (Jan 24, 2023)
3-39900902-G-A		not specified	Uncertain significance (Mar 31, 2023)
3-40044079-G-C		not specified	Uncertain significance (Nov 03, 2022)
3-40044123-C-A		not specified	Uncertain significance (Mar 22, 2023)
3-40044153-A-G		not specified	Uncertain significance (Dec 06, 2022)
3-40044174-C-T		not specified	Uncertain significance (Oct 14, 2023)
3-40044231-C-T		not specified	Uncertain significance (Aug 16, 2022)
3-40044255-G-A		not specified	Uncertain significance (Feb 23, 2023)
3-40044268-C-T		not specified	Uncertain significance (Jul 20, 2021)
3-40044269-G-A			Benign (Jan 24, 2018)
3-40151083-A-G		not specified	Uncertain significance (May 18, 2023)
3-40151097-C-T		not specified	Uncertain significance (Aug 30, 2022)
3-40151107-G-T		not specified	Uncertain significance (Nov 09, 2023)
3-40151124-G-A		not specified	Uncertain significance (Jan 22, 2024)
3-40151137-T-G		not specified	Uncertain significance (Jun 29, 2023)
3-40151175-G-C		not specified	Uncertain significance (Sep 01, 2021)
3-40166846-G-A		not specified	Uncertain significance (Jan 24, 2024)
3-40166926-G-A		not specified	Uncertain significance (Dec 16, 2023)
3-40167192-C-A		not specified	Uncertain significance (Jan 18, 2022)
3-40167243-G-A			Benign (Nov 03, 2018)
3-40170053-C-T		not specified	Uncertain significance (Dec 26, 2023)
3-40170082-G-A		not specified	Likely benign (Jan 10, 2023)
3-40182266-C-G		not specified	Uncertain significance (Nov 07, 2022)
3-40182310-C-G		not specified	Uncertain significance (Oct 25, 2023)
3-40182315-C-A		not specified	Likely benign (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYRIP	protein_coding	protein_coding	ENST00000302541	16	451408

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000722	1.00	125680	0	68	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.733	440	485	0.906	0.0000270	5606
Missense in Polyphen		158	188.83	0.83674		2302
Synonymous	-1.07	212	193	1.10	0.0000109	1692
Loss of Function	3.85	17	44.9	0.379	0.00000238	500

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00317	0.00318
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.0000544	0.0000544
South Asian	0.000392	0.000327
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity). {ECO:0000250}.
• Pathway: Deregulation of Rab and Rab Effector Genes in Bladder Cancer (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.691
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.24

Haploinsufficiency Scores

• pHI: 0.412
• hipred: N
• hipred_score: 0.475
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.690

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myrip

Gene ontology

• Biological process: intracellular protein transport;positive regulation of insulin secretion
• Cellular component: exocyst;photoreceptor outer segment;transport vesicle;cortical actin cytoskeleton;dense core granule;melanosome;synapse;perinuclear region of cytoplasm
• Molecular function: actin binding;protein binding;zinc ion binding;myosin binding;Rab GTPase binding;protein kinase A binding