UNC93A

unc-93 homolog A

Basic information

Region (hg38): 6:167271169-167316014

Links

ENSG00000112494 ∙ NCBI:54346 ∙ OMIM:607995 ∙ HGNC:12570 ∙ Uniprot:Q86WB7 ∙ 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 UNC93A gene.

• not_specified (79 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC93A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018974.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			75	5	2	82
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC93A	protein_coding	protein_coding	ENST00000230256	8	44851

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.16e-15	0.00298	92094	2055	31599	125748	0.144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.529	295	271	1.09	0.0000161	2911
Missense in Polyphen		95	81.053	1.1721		942
Synonymous	-1.09	146	130	1.12	0.00000953	966
Loss of Function	-0.714	21	17.8	1.18	7.59e-7	203

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.263	0.263
Ashkenazi Jewish	0.0977	0.0973
East Asian	0.241	0.239
Finnish	0.159	0.158
European (Non-Finnish)	0.111	0.110
Middle Eastern	0.241	0.239
South Asian	0.211	0.211
Other	0.134	0.130

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.450
• rvis_EVS: 2.54
• rvis_percentile_EVS: 98.71

Haploinsufficiency Scores

• pHI: 0.0877
• hipred: N
• hipred_score: 0.190
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.291

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc93a2

Gene ontology

• Biological process: biological_process
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: molecular_function