RASL10A

RAS like family 10 member A, the group of RAS type GTPase family

Basic information

Region (hg38): 22:29312933-29319679

Links

ENSG00000100276 ∙ NCBI:10633 ∙ OMIM:602220 ∙ HGNC:16954 ∙ Uniprot:Q92737 ∙ 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 RASL10A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASL10A 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in RASL10A

This is a list of pathogenic ClinVar variants found in the RASL10A region.

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

Position	Type	Phenotype	Significance	ClinVar
22-29313335-C-T		not specified	Uncertain significance (Jul 27, 2022)
22-29313402-A-G		not specified	Uncertain significance (Aug 15, 2023)
22-29313420-A-G		not specified	Uncertain significance (Aug 26, 2022)
22-29313450-C-G		not specified	Uncertain significance (May 23, 2023)
22-29313543-T-C		not specified	Uncertain significance (Aug 06, 2024)
22-29313870-C-G		not specified	Uncertain significance (Jul 27, 2024)
22-29313878-C-A		not specified	Uncertain significance (Jul 02, 2024)
22-29313914-G-A		not specified	Uncertain significance (Jul 14, 2021)
22-29313953-T-C		not specified	Uncertain significance (Dec 07, 2021)
22-29315039-C-T		not specified	Uncertain significance (Jan 27, 2022)
22-29315051-C-T		not specified	Uncertain significance (Sep 11, 2024)
22-29315074-C-T		not specified	Uncertain significance (Jun 24, 2022)
22-29315140-G-A		not specified	Uncertain significance (Sep 16, 2021)
22-29315194-G-A		not specified	Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASL10A	protein_coding	protein_coding	ENST00000216101	3	6747

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.184	0.769	125503	0	41	125544	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	71	123	0.575	0.00000773	1246
Missense in Polyphen		33	56.88	0.58017		611
Synonymous	1.26	44	56.0	0.785	0.00000381	436
Loss of Function	1.65	2	6.55	0.305	2.82e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00338	0.00338
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000617
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potent inhibitor of cellular proliferation. {ECO:0000269|PubMed:15833841}.

Haploinsufficiency Scores

• pHI: 0.0946
• hipred: Y
• hipred_score: 0.574
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.185

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasl10a

Gene ontology

• Biological process: small GTPase mediated signal transduction
• Cellular component: nucleolus;plasma membrane
• Molecular function: GTPase activity;GTP binding