USP3-AS1

USP3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:63544247-63601589

Links

ENSG00000259248 ∙ NCBI:100130855 ∙ ∙ HGNC:44140 ∙ ∙ ∙ 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 USP3-AS1 gene.

• Inborn genetic diseases (22 variants)
• not provided (3 variants)
• Neutropenia;Lymphopenia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP3-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding			22		3	25
Total	0	0	23	0	3

Variants in USP3-AS1

This is a list of pathogenic ClinVar variants found in the USP3-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-63553719-C-T		not specified	Uncertain significance (Aug 09, 2021)
15-63553720-G-T		not specified	Uncertain significance (Jul 25, 2024)
15-63553726-A-T		not specified	Uncertain significance (Jun 11, 2024)
15-63553792-T-G		not specified	Uncertain significance (Aug 20, 2024)
15-63558110-G-C		not specified	Uncertain significance (Jul 12, 2023)
15-63562905-G-A		not specified	Uncertain significance (Jun 29, 2022)
15-63562950-A-G		not specified	Uncertain significance (Oct 29, 2024)
15-63570465-T-C		not specified	Uncertain significance (May 04, 2023)
15-63570506-G-A		not specified	Uncertain significance (Feb 28, 2024)
15-63570516-G-C		not specified	Uncertain significance (Feb 14, 2024)
15-63570533-A-G		not specified	Uncertain significance (Sep 03, 2024)
15-63570542-G-A		not specified	Uncertain significance (Dec 06, 2024)
15-63574054-C-A		not specified	Uncertain significance (Oct 29, 2024)
15-63574069-C-T		not specified	Uncertain significance (May 02, 2024)
15-63574074-A-G		not specified	Uncertain significance (Jul 14, 2021)
15-63574078-T-G		Neutropenia;Lymphopenia	Uncertain significance (-)
15-63574132-G-C		not specified	Uncertain significance (Dec 19, 2023)
15-63574361-C-T		not specified	Uncertain significance (Apr 06, 2023)
15-63574385-C-A			Benign (Sep 19, 2018)
15-63588415-C-T			Benign (Apr 04, 2018)
15-63588763-C-T		not specified	Uncertain significance (Jan 22, 2024)
15-63588768-G-A		not specified	Uncertain significance (Nov 21, 2023)
15-63588801-T-C		not specified	Uncertain significance (Nov 15, 2021)
15-63588963-A-G		not specified	Uncertain significance (Oct 12, 2022)
15-63589010-G-A		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP