RASL12

RAS like family 12, the group of RAS type GTPase family

Basic information

Region (hg38): 15:65053337-65076690

Links

ENSG00000103710 ∙ NCBI:51285 ∙ ∙ HGNC:30289 ∙ Uniprot:Q9NYN1 ∙ 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 RASL12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASL12 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in RASL12

This is a list of pathogenic ClinVar variants found in the RASL12 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-65055021-T-C		not specified	Likely benign (Dec 20, 2022)
15-65055097-C-G		not specified	Uncertain significance (Jan 03, 2022)
15-65058438-C-T		not specified	Uncertain significance (Mar 31, 2024)
15-65058478-C-T		not specified	Uncertain significance (Nov 06, 2023)
15-65058547-C-T		not specified	Uncertain significance (Dec 05, 2022)
15-65058551-C-A		not specified	Uncertain significance (Jul 13, 2021)
15-65058607-C-T		not specified	Uncertain significance (Jun 01, 2023)
15-65065245-C-A		not specified	Uncertain significance (Apr 20, 2024)
15-65067780-A-T		not specified	Uncertain significance (Dec 06, 2022)
15-65067813-G-A		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASL12	protein_coding	protein_coding	ENST00000220062	5	23350

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000871	0.807	125728	0	19	125747	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.632	132	154	0.857	0.00000929	1711
Missense in Polyphen		45	57.669	0.78032		659
Synonymous	0.191	67	69.0	0.971	0.00000426	548
Loss of Function	1.11	6	9.74	0.616	4.98e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000341	0.000337
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000642	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.0000332	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.485
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.75

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.458
• ghis: 0.611

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.142

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasl12

Gene ontology

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