RASAL1

RAS protein activator like 1, the group of Pleckstrin homology domain containing|C2 and RasGAP domain containing

Basic information

Region (hg38): 12:113098819-113136239

Links

ENSG00000111344 ∙ NCBI:8437 ∙ OMIM:604118 ∙ HGNC:9873 ∙ Uniprot:O95294 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• breast cancer (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RASAL1 gene.

• not_specified (133 variants)
• not_provided (16 variants)
• Hereditary_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASAL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001301202.2. 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				5	5	10
missense			124	10	2	136
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	125	15	7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASAL1	protein_coding	protein_coding	ENST00000546530	21	37421

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-14	0.708	125654	0	94	125748	0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.757	420	466	0.901	0.0000283	5158
Missense in Polyphen		145	162.82	0.89055		1796
Synonymous	1.57	159	186	0.854	0.0000104	1649
Loss of Function	1.79	28	40.3	0.695	0.00000204	449

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000431	0.000431
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000829	0.000816
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000296	0.000290
Middle Eastern	0.000829	0.000816
South Asian	0.000953	0.000948
Other	0.000354	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:9751798}.
• 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)

Recessive Scores

• pRec: 0.0953

Intolerance Scores

• loftool: 0.862
• rvis_EVS: 0.47
• rvis_percentile_EVS: 78.85

Haploinsufficiency Scores

• pHI: 0.125
• hipred: Y
• hipred_score: 0.589
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.209

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasal1

Gene ontology

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