RASA4

RAS p21 protein activator 4, the group of C2 and RasGAP domain containing

Basic information

Region (hg38): 7:102579646-102616756

Links

ENSG00000105808 ∙ NCBI:10156 ∙ OMIM:607943 ∙ HGNC:23181 ∙ Uniprot:O43374 ∙ 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 RASA4 gene.

• not_specified (4 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASA4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006989.6. 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		1
missense			4			4
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASA4	protein_coding	protein_coding	ENST00000262940	21	37112

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.115	0.788	119649	1	3	119653	0.0000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.836	42	60.3	0.697	0.00000329	5086
Missense in Polyphen		18	23.464	0.76714		1886
Synonymous	0.412	27	29.9	0.904	0.00000176	1622
Loss of Function	1.31	2	5.23	0.383	2.21e-7	458

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000660	0.0000660
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.000110	0.000102
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis. {ECO:0000269|PubMed:11448776}.
• Pathway: Ras signaling pathway - Homo sapiens (human);Ras Signaling;Regulation of Ras family activation;Signal Transduction;Regulation of RAS by GAPs;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.218

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.134

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasa4
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: MAPK cascade;negative regulation of GTPase activity;positive regulation of GTPase activity;negative regulation of Ras protein signal transduction;cellular response to calcium ion
• Cellular component: cytosol;plasma membrane
• Molecular function: GTPase activator activity;phospholipid binding;metal ion binding