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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 4.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_138450.6	NP_612459.1	1	yes	-
ENST00000282026.2	ENSP00000282026.1	1	yes	-
ENST00000920918.1	ENSP00000590977.1	1	-	-
ENST00000958145.1	ENSP00000628204.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARL11 gene.

• not_specified (33 variants)
• not_provided (2 variants)

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. These statistics are base on transcript: NM_138450.6. 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			1	1		2
missense			30	2		32
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	33	4	0

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
		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

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

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