RASL11B

RAS like family 11 member B, the group of RAS type GTPase family

Basic information

Region (hg38): 4:52862317-52866835

Links

ENSG00000128045 ∙ NCBI:65997 ∙ OMIM:612404 ∙ HGNC:23804 ∙ Uniprot:Q9BPW5 ∙ 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 RASL11B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASL11B 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in RASL11B

This is a list of pathogenic ClinVar variants found in the RASL11B region.

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

Position	Type	Phenotype	Significance	ClinVar
4-52862524-A-T		not specified	Uncertain significance (Aug 21, 2023)
4-52862587-G-A		not specified	Uncertain significance (Feb 16, 2023)
4-52862598-C-A		not specified	Uncertain significance (Dec 15, 2023)
4-52862601-C-T		not specified	Uncertain significance (Nov 15, 2021)
4-52865384-G-A		not specified	Uncertain significance (Sep 27, 2022)
4-52865414-C-T		not specified	Uncertain significance (Jan 04, 2022)
4-52865488-C-T		not specified	Uncertain significance (Sep 16, 2021)
4-52865516-A-G		not specified	Uncertain significance (May 24, 2023)
4-52865531-A-C		not specified	Uncertain significance (Jul 05, 2023)
4-52865608-A-C		not specified	Uncertain significance (Nov 10, 2022)
4-52865636-C-T		not specified	Uncertain significance (Nov 09, 2023)
4-52865659-G-A		not specified	Uncertain significance (Jan 31, 2023)
4-52865713-A-G		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASL11B	protein_coding	protein_coding	ENST00000248706	4	4544

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00747	0.931	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	107	141	0.757	0.00000734	1608
Missense in Polyphen		23	36.035	0.63827		424
Synonymous	-1.94	79	59.9	1.32	0.00000332	500
Loss of Function	1.61	5	10.7	0.467	6.12e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000587	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000587	0.0000544
South Asian	0.0000340	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.182
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.490
• hipred: N
• hipred_score: 0.441
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.794

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasl11b

Zebrafish Information Network

• Gene name: rasl11b
• Affected structure: post-vent region
• Phenotype tag: abnormal
• Phenotype quality: curved ventral

Gene ontology

• Biological process: signal transduction;negative regulation of transforming growth factor beta receptor signaling pathway
• Cellular component: membrane
• Molecular function: GTPase activity;transforming growth factor beta receptor binding;GTP binding