AP4B1-AS1

AP4B1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:113812379-113901237

Links

ENSG00000226167 ∙ NCBI:100287722 ∙ ∙ HGNC:44114 ∙ ∙ ∙ 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 AP4B1-AS1 gene.

• Hereditary spastic paraplegia 47 (182 variants)
• Inborn genetic diseases (73 variants)
• not provided (56 variants)
• not specified (25 variants)
• Hereditary spastic paraplegia (20 variants)
• Spastic paraplegia (19 variants)
• Intellectual disability (3 variants)
• Abnormal brain morphology (2 variants)
• AP4B1-related condition (1 variants)
• AP4-related intellectual disability and spastic paraplegia (1 variants)
• Abnormality of the nervous system (1 variants)
• Diabetes mellitus, insulin-dependent, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AP4B1-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	3	1		6
splice region						0
non coding	19	16	141	76	7	259
Total	20	17	144	77	7

Highest pathogenic variant AF is 0.0000657

Variants in AP4B1-AS1

This is a list of pathogenic ClinVar variants found in the AP4B1-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
1-113812380-C-G		not specified	Uncertain significance (Feb 23, 2023)
1-113812402-G-T		not specified	Uncertain significance (Jul 09, 2021)
1-113814951-G-A		not specified	Uncertain significance (Jan 26, 2023)
1-113819566-A-G			Likely benign (Nov 01, 2023)
1-113825151-T-C		not specified	Uncertain significance (Apr 15, 2024)
1-113825156-C-T		not specified	Uncertain significance (Dec 03, 2021)
1-113829592-C-G		not specified • PTPN22-related disorder	Conflicting classifications of pathogenicity (Aug 01, 2024)
1-113829641-G-A			Uncertain significance (Aug 16, 2022)
1-113829671-C-G			Uncertain significance (Aug 09, 2021)
1-113829710-TA-T			Benign (Oct 30, 2019)
1-113829710-TAA-T			Benign (Jun 28, 2017)
1-113830002-G-C		not specified	Uncertain significance (Dec 14, 2021)
1-113830002-G-T		not specified	Uncertain significance (Jul 19, 2022)
1-113830008-G-C			Benign (Dec 31, 2019)
1-113830026-A-G		not specified	Uncertain significance (Jun 17, 2024)
1-113833137-C-G		not specified	Uncertain significance (Jul 19, 2023)
1-113834340-A-G		not specified	Likely benign (Feb 23, 2023)
1-113834363-A-T			Benign (Dec 31, 2019)
1-113834908-A-G		Rheumatoid arthritis	Uncertain significance (-)
1-113834946-A-A		Addison disease, susceptibility to • Diabetes mellitus, insulin-dependent, susceptibility to • Rheumatoid arthritis • Systemic lupus erythematosus, susceptibility to • Hashimoto thyroiditis, susceptibility to • chronic fatigue syndrome with infection-triggered onset	Benign (Oct 17, 2018)
1-113834964-G-C			Uncertain significance (Feb 01, 2024)
1-113837699-C-T			Likely benign (-)
1-113837761-A-G		not specified	Uncertain significance (Aug 04, 2023)
1-113837773-T-C		PTPN22-related disorder	Likely benign (May 18, 2018)
1-113837817-T-C		not specified	Uncertain significance (Apr 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP