UNC50

unc-50 inner nuclear membrane RNA binding protein

Basic information

Region (hg38): 2:98608579-98618515

Links

ENSG00000115446 ∙ NCBI:25972 ∙ OMIM:617826 ∙ HGNC:16046 ∙ Uniprot:Q53HI1 ∙ 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 UNC50 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC50 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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	16	0	1

Variants in UNC50

This is a list of pathogenic ClinVar variants found in the UNC50 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-98608705-C-T			Benign (Jun 14, 2018)
2-98609710-T-A		UNC50-related disorder	Benign (May 24, 2019)
2-98609824-C-T		not specified	Uncertain significance (Jan 31, 2025)
2-98609876-C-A		not specified	Uncertain significance (Jan 19, 2024)
2-98609878-G-A		not specified	Uncertain significance (May 11, 2022)
2-98609880-T-G		not specified	Uncertain significance (Jan 08, 2024)
2-98609923-A-G		not specified	Uncertain significance (Mar 20, 2023)
2-98610027-A-G		not specified	Uncertain significance (Jul 14, 2024)
2-98610781-C-G		Fetal akinesia deformation sequence 1;Arthrogryposis multiplex congenita	Uncertain significance (Jun 28, 2019)
2-98610807-A-G		not specified	Uncertain significance (Jul 16, 2021)
2-98610819-G-C		not specified	Uncertain significance (Jan 08, 2025)
2-98610829-A-C		not specified	Uncertain significance (Dec 10, 2024)
2-98610854-A-G			Uncertain significance (Mar 17, 2020)
2-98610885-A-T		not specified	Uncertain significance (Jun 29, 2022)
2-98616211-A-G		not specified	Uncertain significance (Jul 14, 2024)
2-98616227-T-C		not specified	Uncertain significance (Dec 19, 2022)
2-98616269-A-G		not specified	Uncertain significance (Jan 20, 2025)
2-98616275-T-C		not specified	Uncertain significance (Jan 22, 2024)
2-98616434-G-A		not specified	Uncertain significance (Aug 12, 2024)
2-98616504-A-T		not specified	Uncertain significance (Aug 10, 2021)
2-98616507-T-C		not specified	Uncertain significance (Dec 17, 2023)
2-98616530-A-G		UNC50-related disorder	Benign (Sep 05, 2019)
2-98618138-T-A		UNC50-related disorder	Benign (Nov 06, 2019)
2-98618138-T-TA		UNC50-related disorder	Benign (Aug 20, 2019)
2-98618138-T-TAA		UNC50-related disorder	Benign (Aug 29, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC50	protein_coding	protein_coding	ENST00000357765	5	9937

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000198	0.911	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.941	107	138	0.775	0.00000730	1678
Missense in Polyphen		37	57.209	0.64675		711
Synonymous	0.210	52	54.0	0.964	0.00000296	514
Loss of Function	1.54	8	14.3	0.561	8.71e-7	147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000581	0.0000581
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.519
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.391
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc50

Gene ontology

• Biological process: protein transport
• Cellular component: nuclear inner membrane;integral component of Golgi membrane
• Molecular function: RNA binding