DPYD-AS1

DPYD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:97095923-97322955

Links

ENSG00000232878 ∙ ∙ ∙ HGNC:40195 ∙ ∙ ∙ 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 DPYD-AS1 gene.

• Dihydropyrimidine dehydrogenase deficiency (50 variants)
• not provided (34 variants)
• Inborn genetic diseases (14 variants)
• not specified (6 variants)
• fluorouracil response - Other (2 variants)
• fluorouracil response - Toxicity (1 variants)
• capecitabine response - Toxicity (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPYD-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			2
splice region						0
non coding	1	26	28	12	5	72
Total	1	27	29	12	5

Highest pathogenic variant AF is 0.0000132

Variants in DPYD-AS1

This is a list of pathogenic ClinVar variants found in the DPYD-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
1-97098470-T-C		Dihydropyrimidine dehydrogenase deficiency	Likely benign (Aug 16, 2017)
1-97098488-C-T		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Mar 05, 2024)
1-97098497-T-G		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Apr 11, 2023)
1-97098500-GA-G		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (May 23, 2016)
1-97098506-GC-G		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Sep 13, 2016)
1-97098508-CT-C		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Feb 06, 2024)
1-97098521-AAC-A		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Jul 29, 2023)
1-97098533-T-A		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Feb 07, 2017)
1-97098550-A-G		Inborn genetic diseases	Likely benign (Jul 13, 2021)
1-97098575-T-A		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (May 16, 2016)
1-97098577-T-C		not specified	Likely benign (Jul 31, 2024)
1-97098581-C-A		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Sep 19, 2023)
1-97098582-T-C		DPYD-related disorder	Likely benign (Mar 11, 2024)
1-97098598-C-T		Dihydropyrimidine dehydrogenase deficiency • not specified	Uncertain significance (Apr 11, 2023)
1-97098601-T-C		Inborn genetic diseases	Uncertain significance (Nov 19, 2022)
1-97098602-G-A		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Nov 03, 2023)
1-97098605-C-A		Dihydropyrimidine dehydrogenase deficiency	Pathogenic (Jun 11, 2020)
1-97098609-A-G		Inborn genetic diseases	Likely benign (Nov 13, 2023)
1-97098621-A-C		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 12, 2018)
1-97098623-T-C		Dihydropyrimidine dehydrogenase deficiency	Uncertain significance (Jan 13, 2018)
1-97098632-T-G		Inborn genetic diseases	Uncertain significance (Mar 18, 2024)
1-97098640-G-A			Likely benign (Jul 24, 2018)
1-97192839-C-T			Benign (Jul 09, 2018)
1-97193068-C-T		Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic (Apr 11, 2023)
1-97193091-C-T		Inborn genetic diseases	Uncertain significance (Aug 19, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP