ARRDC5

arrestin domain containing 5, the group of Alpha arrestins

Basic information

Region (hg38): 19:4890436-4902896

Links

ENSG00000205784 ∙ NCBI:645432 ∙ ∙ HGNC:31407 ∙ Uniprot:A6NEK1 ∙ 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 ARRDC5 gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARRDC5 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ARRDC5

This is a list of pathogenic ClinVar variants found in the ARRDC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-4891123-T-C		not specified	Uncertain significance (Jul 20, 2022)
19-4891125-G-A		not specified	Uncertain significance (Apr 27, 2022)
19-4891203-G-T		not specified	Uncertain significance (Mar 22, 2022)
19-4891211-G-C		not specified	Uncertain significance (Nov 27, 2023)
19-4891243-A-C		not specified	Uncertain significance (Aug 02, 2021)
19-4891311-G-A		not specified	Uncertain significance (Dec 01, 2022)
19-4891368-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-4891374-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-4891378-C-T		not specified	Uncertain significance (Dec 21, 2023)
19-4891413-G-A		not specified	Uncertain significance (May 03, 2023)
19-4891416-T-C		not specified	Uncertain significance (Dec 06, 2022)
19-4891431-G-A		not specified	Uncertain significance (Apr 11, 2023)
19-4891442-G-C		not specified	Uncertain significance (Mar 20, 2023)
19-4891449-G-C		not specified	Uncertain significance (Apr 27, 2022)
19-4891493-C-T		not specified	Uncertain significance (Jul 12, 2023)
19-4891530-C-A		not specified	Uncertain significance (Jan 23, 2024)
19-4896727-T-C		not specified	Uncertain significance (Jun 01, 2023)
19-4896743-G-C		not specified	Uncertain significance (Oct 12, 2022)
19-4896754-C-A		not specified	Uncertain significance (Sep 22, 2023)
19-4896801-G-A		not specified	Uncertain significance (Jun 06, 2023)
19-4896862-C-A		not specified	Uncertain significance (Dec 28, 2022)
19-4896876-T-C		not specified	Uncertain significance (Aug 12, 2021)
19-4902606-A-G		not specified	Uncertain significance (Nov 17, 2023)
19-4902675-C-T		not specified	Uncertain significance (May 02, 2023)
19-4902676-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARRDC5	protein_coding	protein_coding	ENST00000381781	3	12431

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00569	0.739	124626	0	12	124638	0.0000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.506	225	205	1.10	0.0000124	2255
Missense in Polyphen		49	47.185	1.0385		540
Synonymous	0.181	88	90.2	0.976	0.00000635	678
Loss of Function	0.812	4	6.18	0.647	2.62e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000797	0.0000708
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.674
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.0785
• hipred: N
• hipred_score: 0.146
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0815

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arrdc5