ARL11

ADP ribosylation factor like GTPase 11, the group of ARF GTPase family

Basic information

Region (hg38): 13:49628507-49633872

Links

ENSG00000152213 ∙ NCBI:115761 ∙ OMIM:609351 ∙ HGNC:24046 ∙ Uniprot:Q969Q4 ∙ 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 ARL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL11 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				1		1
missense			20	2		22
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	3	1

Variants in ARL11

This is a list of pathogenic ClinVar variants found in the ARL11 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-49630458-T-A		not specified	Uncertain significance (May 31, 2022)
13-49630494-T-C		not specified	Uncertain significance (Dec 12, 2023)
13-49630515-C-T		not specified	Uncertain significance (Aug 20, 2024)
13-49630517-G-A		not specified	Uncertain significance (Sep 01, 2024)
13-49630542-T-G		not specified	Uncertain significance (Sep 28, 2022)
13-49630564-G-T		not specified	Uncertain significance (Sep 08, 2024)
13-49630573-C-T			Likely benign (Jun 15, 2018)
13-49630616-G-A		not specified	Uncertain significance (Dec 16, 2022)
13-49630649-G-A		not specified	Likely benign (Jul 27, 2024)
13-49630650-C-A		not specified	Uncertain significance (Jul 03, 2024)
13-49630652-C-T		not specified	Uncertain significance (Apr 09, 2024)
13-49630653-C-T		not specified	Uncertain significance (Jul 09, 2021)
13-49630677-A-G		not specified	Uncertain significance (Dec 17, 2023)
13-49630746-C-T		not specified	Likely benign (Jan 23, 2024)
13-49630775-C-A		not specified	Uncertain significance (Oct 08, 2024)
13-49630781-A-G		not specified	Uncertain significance (Jan 24, 2023)
13-49630790-G-A		not specified	Uncertain significance (Dec 14, 2023)
13-49630833-C-T		not specified	Uncertain significance (May 25, 2022)
13-49630848-A-C		not specified	Uncertain significance (Dec 10, 2024)
13-49630859-A-G		not specified	Uncertain significance (Mar 29, 2023)
13-49630893-G-A			Benign (Dec 31, 2019)
13-49630973-C-T		not specified	Uncertain significance (Jan 29, 2024)
13-49631015-C-T		not specified	Uncertain significance (Mar 01, 2023)
13-49631028-A-G		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARL11	protein_coding	protein_coding	ENST00000282026	1	5574

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00527	0.486	125727	0	11	125738	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0945	121	118	1.02	0.00000709	1253
Missense in Polyphen		44	44.013	0.99969		487
Synonymous	1.31	44	56.5	0.778	0.00000392	423
Loss of Function	-0.180	3	2.68	1.12	1.13e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000214	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in apoptosis. May act as a tumor suppressor. {ECO:0000269|PubMed:15843669}.

Recessive Scores

• pRec: 0.0996

Intolerance Scores

• loftool: 0.470
• rvis_EVS: 0.7
• rvis_percentile_EVS: 85.42

Haploinsufficiency Scores

• pHI: 0.0708
• hipred: N
• hipred_score: 0.251

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.910

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arl11

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation;intracellular protein transport;vesicle-mediated transport
• Cellular component: cytoplasm;plasma membrane
• Molecular function: protein binding;GTP binding