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.

not_specified (167 variants)
UACA-related_disorder (29 variants)
not_provided (4 variants)

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. These statistics are base on transcript: NM_000018003.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				10 clinvar	5 clinvar	15
missense			160 clinvar	10 clinvar	8 clinvar	178
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	161	20	13

Loading clinvar variants...

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