UACA

uveal autoantigen with coiled-coil domains and ankyrin repeats, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 15:70654554-70763558

Links

ENSG00000137831 ∙ NCBI:55075 ∙ OMIM:612516 ∙ HGNC:15947 ∙ Uniprot:Q9BZF9 ∙ 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 UACA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UACA 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				9	7	16
missense			63	5	8	76
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region				1	2	3
non coding				2		2
Total	0	0	64	16	15

Variants in UACA

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

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

Position	Type	Phenotype	Significance	ClinVar
15-70657059-G-A		UACA-related disorder	Likely benign (Mar 21, 2019)
15-70657076-G-A		not specified	Uncertain significance (Apr 23, 2024)
15-70657085-T-C		not specified	Uncertain significance (Nov 08, 2021)
15-70660158-G-A		not specified	Uncertain significance (Jan 18, 2022)
15-70664681-G-C		not specified	Uncertain significance (Apr 24, 2023)
15-70664717-C-T		not specified	Uncertain significance (Apr 29, 2024)
15-70664767-A-G		UACA-related disorder	Benign (Apr 30, 2019)
15-70664768-T-C		UACA-related disorder	Likely benign (Feb 27, 2023)
15-70664778-G-C		not specified	Uncertain significance (Apr 13, 2022)
15-70664801-A-C		not specified	Uncertain significance (Jul 06, 2021)
15-70666771-T-C		not specified	Uncertain significance (Apr 17, 2023)
15-70666791-G-A		not specified	Uncertain significance (May 17, 2023)
15-70666912-A-G		not specified	Uncertain significance (Apr 06, 2023)
15-70666926-T-G		not specified	Uncertain significance (Dec 27, 2023)
15-70666941-G-A		not specified	Uncertain significance (Sep 26, 2023)
15-70667015-T-C		UACA-related disorder	Likely benign (Oct 28, 2019)
15-70667127-C-T		not specified	Uncertain significance (Apr 01, 2024)
15-70667140-T-C		not specified	Uncertain significance (Dec 19, 2023)
15-70667190-G-T		not specified	Uncertain significance (May 16, 2022)
15-70667237-C-T		UACA-related disorder	Benign (Apr 30, 2019)
15-70667301-A-C		not specified	Uncertain significance (Aug 13, 2021)
15-70667353-G-A		not specified	Uncertain significance (Dec 11, 2023)
15-70667372-T-C		UACA-related disorder	Benign (Feb 21, 2019)
15-70667454-T-C		not specified	Uncertain significance (Aug 12, 2021)
15-70667464-C-A		UACA-related disorder	Benign (Apr 30, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UACA	protein_coding	protein_coding	ENST00000322954	19	109040

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.25e-29	0.0392	125490	1	256	125747	0.00102

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.471	641	675	0.949	0.0000318	9405
Missense in Polyphen		191	210.23	0.90854		2872
Synonymous	-0.136	255	252	1.01	0.0000128	2460
Loss of Function	1.74	53	68.5	0.774	0.00000365	934

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00152	0.00152
Ashkenazi Jewish	0.000816	0.000794
East Asian	0.000405	0.000381
Finnish	0.00264	0.00259
European (Non-Finnish)	0.000987	0.000967
Middle Eastern	0.000405	0.000381
South Asian	0.000936	0.000882
Other	0.00153	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.992
• rvis_EVS: -0.52
• rvis_percentile_EVS: 20.95

Haploinsufficiency Scores

• pHI: 0.453
• hipred: N
• hipred_score: 0.441
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.182

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uaca
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; renal/urinary system phenotype; reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm

Gene ontology

• Biological process: biological_process;apoptotic signaling pathway;regulation of NIK/NF-kappaB signaling
• Cellular component: extracellular region;nucleus;cytosol;cytoskeleton;extracellular exosome
• Molecular function: molecular_function;protein binding