RASIP1

Ras interacting protein 1

Basic information

Region (hg38): 19:48720585-48740610

Links

ENSG00000105538 ∙ NCBI:54922 ∙ OMIM:609623 ∙ HGNC:24716 ∙ Uniprot:Q5U651 ∙ 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 RASIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASIP1 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				3		3
missense			64	3		67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	64	6	0

Variants in RASIP1

This is a list of pathogenic ClinVar variants found in the RASIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-48720818-G-A		not specified	Uncertain significance (Jun 07, 2024)
19-48720848-C-T		not specified	Uncertain significance (Sep 22, 2022)
19-48720850-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-48720857-C-T		not specified	Uncertain significance (Dec 07, 2021)
19-48720863-C-T		RASIP1-related disorder	Likely benign (Dec 28, 2022)
19-48720877-C-T		not specified	Uncertain significance (Jul 14, 2022)
19-48720884-T-C		not specified	Uncertain significance (Apr 04, 2024)
19-48720897-G-T		not specified	Uncertain significance (May 03, 2023)
19-48720907-T-C		not specified	Uncertain significance (May 26, 2024)
19-48720995-C-T		not specified	Uncertain significance (Feb 05, 2024)
19-48721863-C-T		not specified	Uncertain significance (Jan 06, 2023)
19-48721893-A-T		not specified	Uncertain significance (Nov 15, 2024)
19-48721895-G-A		not specified	Uncertain significance (Oct 04, 2024)
19-48721910-C-A		not specified	Likely benign (Aug 13, 2021)
19-48721925-T-C		not specified	Uncertain significance (Feb 12, 2024)
19-48721950-G-T		not specified	Uncertain significance (Jan 04, 2022)
19-48721956-C-G		not specified	Uncertain significance (Sep 09, 2024)
19-48721956-C-T		not specified	Uncertain significance (Jan 23, 2023)
19-48724351-T-C		not specified	Uncertain significance (Oct 29, 2024)
19-48724353-C-T		not specified	Uncertain significance (Aug 21, 2024)
19-48724354-G-A		RASIP1-related disorder	Likely benign (Jan 31, 2022)
19-48724360-C-T		not specified	Uncertain significance (Jan 02, 2024)
19-48724374-A-G		not specified	Uncertain significance (Jun 23, 2023)
19-48724447-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-48724450-G-A		not specified	Uncertain significance (Aug 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASIP1	protein_coding	protein_coding	ENST00000222145	11	20135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00197	125743	0	5	125748	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.82	298	470	0.634	0.0000287	5971
Missense in Polyphen		70	143.36	0.48827		1647
Synonymous	1.72	181	213	0.850	0.0000136	2180
Loss of Function	4.70	3	31.4	0.0955	0.00000182	376

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000514	0.0000462
European (Non-Finnish)	0.0000190	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000338	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS- mediated transformation. Negative regulator of amino acid starvation-induced autophagy. {ECO:0000250, ECO:0000269|PubMed:15031288, ECO:0000269|PubMed:22354037}.

Recessive Scores

• pRec: 0.0907

Haploinsufficiency Scores

• pHI: 0.151
• hipred: Y
• hipred_score: 0.785
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasip1
• 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); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: rasip1
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: angiogenesis;vasculogenesis;signal transduction;negative regulation of autophagy;positive regulation of integrin activation;negative regulation of Rho protein signal transduction;regulation of GTPase activity;branching morphogenesis of an epithelial tube;negative regulation of membrane permeability;negative regulation of Rho-dependent protein serine/threonine kinase activity
• Cellular component: Golgi stack;cell-cell junction;protein-containing complex;perinuclear region of cytoplasm
• Molecular function: protein binding;protein homodimerization activity;GTPase binding