USP7-AS1

USP7 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:8962148-8967363

Links

ENSG00000260979 ∙ NCBI:105371074 ∙ ∙ HGNC:55379 ∙ ∙ ∙ 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 USP7-AS1 gene.

• not provided (11 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP7-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)						0
splice region						0
non coding			10	2	1	13
Total	0	0	10	2	1

Variants in USP7-AS1

This is a list of pathogenic ClinVar variants found in the USP7-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
16-8963198-G-C			Likely benign (May 27, 2023)
16-8963200-G-A			Likely benign (Mar 24, 2024)
16-8963219-T-C			Uncertain significance (Oct 08, 2024)
16-8963220-G-A			Likely benign (Jul 14, 2023)
16-8963224-T-C			Uncertain significance (Jun 23, 2022)
16-8963226-G-A			Benign (Feb 02, 2025)
16-8963228-G-T			Uncertain significance (Sep 01, 2022)
16-8963230-T-C		Inborn genetic diseases	Uncertain significance (Jul 08, 2021)
16-8963231-C-T			Uncertain significance (Oct 13, 2023)
16-8963234-T-TCAACTGCTGCTCGCC		Hao-Fountain syndrome due to USP7 mutation	Uncertain significance (-)
16-8963240-G-A		Inborn genetic diseases	Likely pathogenic (Aug 26, 2024)
16-8963248-C-T		Inborn genetic diseases	Uncertain significance (Sep 25, 2024)
16-8963249-C-T			Uncertain significance (Mar 11, 2024)
16-8963252-C-T			Likely benign (Dec 28, 2023)
16-8963255-TCTG-T		USP7-related disorder	Uncertain significance (Sep 13, 2022)
16-8963255-TCTGCTG-T			Uncertain significance (Sep 27, 2022)
16-8963255-T-TCTG		USP7-related disorder	Benign/Likely benign (Jan 30, 2025)
16-8963255-T-TCTGCTG			Uncertain significance (Jul 25, 2023)
16-8963258-G-C			Uncertain significance (Feb 15, 2022)
16-8963274-C-G		USP7-related disorder	Benign/Likely benign (Mar 12, 2024)
16-8963276-G-A		Inborn genetic diseases	Likely pathogenic (Aug 08, 2024)
16-8963278-T-C		not specified	Uncertain significance (Jul 12, 2024)
16-8963279-G-A		Inborn genetic diseases	Uncertain significance (Aug 27, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP