RASA4B

RAS p21 protein activator 4B, the group of Pleckstrin homology domain containing|C2 and RasGAP domain containing

Basic information

Region (hg38): 7:102479976-102517777

Links

ENSG00000170667 ∙ NCBI:100271927 ∙ ∙ HGNC:35202 ∙ Uniprot:C9J798 ∙ 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 RASA4B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASA4B 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASA4B	protein_coding	protein_coding	ENST00000541662	20	35337

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0214	0.770	106747	0	3	106750	0.0000141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	29	49.1	0.591	0.00000265	4790
Missense in Polyphen		10	21.381	0.4677		1898
Synonymous	2.55	7	22.3	0.313	0.00000120	1511
Loss of Function	0.894	3	5.20	0.577	2.21e-7	431

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000779	0.0000779
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	0.0000736	0.0000736
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ca(2+)-dependent Ras GTPase-activating protein, that may play a role in the Ras-MAPK pathway. {ECO:0000250|UniProtKB:O43374}.
• Pathway: Ras signaling pathway - Homo sapiens (human);Ras Signaling (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: intracellular signal transduction;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