AARD

alanine and arginine rich domain containing protein

Basic information

Region (hg38): 8:116938207-116944487

Previous symbols: [ "C8orf85" ]

Links

ENSG00000205002 ∙ NCBI:441376 ∙ ∙ HGNC:33842 ∙ Uniprot:Q4LEZ3 ∙ 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 AARD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AARD 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	1

Variants in AARD

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

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

Position	Type	Phenotype	Significance	ClinVar
8-116938261-C-A		not specified	Uncertain significance (May 01, 2024)
8-116938453-G-A			Benign (Jul 13, 2018)
8-116938455-T-C		not specified	Uncertain significance (Oct 26, 2021)
8-116938485-A-AGGC		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
8-116938488-C-T		not specified	Uncertain significance (Apr 15, 2024)
8-116938497-C-G		not specified	Uncertain significance (Oct 17, 2023)
8-116938517-C-G		not specified	Uncertain significance (Sep 21, 2023)
8-116938542-C-T		not specified	Uncertain significance (Jan 03, 2024)
8-116942621-C-A		not specified	Uncertain significance (Jan 26, 2022)
8-116942694-C-T		not specified	Likely benign (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AARD	protein_coding	protein_coding	ENST00000378279	2	6289

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.326	0.615	125663	0	51	125714	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.309	90	82.1	1.10	0.00000380	969
Missense in Polyphen		23	16.45	1.3982		181
Synonymous	-0.133	39	38.0	1.03	0.00000192	315
Loss of Function	1.46	1	4.26	0.235	1.92e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000464	0.000450
Ashkenazi Jewish	0.00199	0.00199
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000117	0.000114
Middle Eastern	0.000111	0.000109
South Asian	0.0000328	0.0000327
Other	0.000656	0.000652

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aard

Gene ontology

• Biological process: lung development