PSMB8-AS1

PSMB8 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 6:32844078-32846500

Previous symbols: [ "TAPSAR1" ]

Links

ENSG00000204261 ∙ NCBI:100507463 ∙ ∙ HGNC:39758 ∙ ∙ ∙ 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 PSMB8-AS1 gene.

• MHC class I deficiency (35 variants)
• not provided (6 variants)
• Inborn genetic diseases (3 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMB8-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			21	12	8	41
Total	0	0	22	12	8

Variants in PSMB8-AS1

This is a list of pathogenic ClinVar variants found in the PSMB8-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
6-32844269-T-C		PSMB8-related disorder	Likely benign (Jul 12, 2024)
6-32844305-CAG-C		Proteasome-associated autoinflammatory syndrome 1	Likely pathogenic (Mar 29, 2024)
6-32844318-G-A		PSMB8-related disorder	Likely benign (May 23, 2024)
6-32844751-C-T			Benign (May 15, 2021)
6-32844876-TTG-T			Benign (May 25, 2021)
6-32845024-G-A			Benign (May 14, 2021)
6-32845081-A-G			Benign (May 14, 2021)
6-32845139-T-C			Benign (Nov 12, 2018)
6-32845503-T-G			Likely benign (Dec 01, 2023)
6-32845587-G-A		not specified	Uncertain significance (Jun 16, 2023)
6-32845602-C-G		MHC class I deficiency	Uncertain significance (Sep 12, 2021)
6-32845607-A-G		MHC class I deficiency	Uncertain significance (Nov 29, 2022)
6-32845611-T-C		Inborn genetic diseases	Uncertain significance (May 11, 2022)
6-32845613-G-A		MHC class I deficiency • Inborn genetic diseases	Uncertain significance (Mar 25, 2022)
6-32845639-G-A		MHC class I deficiency	Likely benign (Apr 13, 2023)
6-32845644-G-T		MHC class I deficiency	Benign (Jan 16, 2024)
6-32845659-C-A		MHC class I deficiency • Inborn genetic diseases	Uncertain significance (Jan 19, 2022)
6-32845659-C-G		MHC class I deficiency	Uncertain significance (Dec 10, 2020)
6-32845671-C-T		MHC class I deficiency	Uncertain significance (May 20, 2022)
6-32845672-G-A		MHC class I deficiency	Likely benign (Aug 30, 2023)
6-32845677-C-A		MHC class I deficiency	Uncertain significance (Oct 16, 2019)
6-32845681-C-A		MHC class I deficiency	Likely benign (Aug 17, 2023)
6-32845682-A-C		MHC class I deficiency	Uncertain significance (Nov 22, 2021)
6-32845686-A-G		MHC class I deficiency	Uncertain significance (Oct 03, 2023)
6-32845687-G-T		MHC class I deficiency	Likely benign (Oct 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.677