DCP1A

decapping mRNA 1A

Basic information

Region (hg38): 3:53283429-53347586

Links

ENSG00000272886 ∙ NCBI:55802 ∙ OMIM:607010 ∙ HGNC:18714 ∙ Uniprot:Q9NPI6 ∙ AlphaFold ∙ 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 DCP1A gene.

• not_specified (59 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCP1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018403.7. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			57	2	1	60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	2	1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7- methyl guanine cap structure from mRNA molecules, yielding a 5'- phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1. {ECO:0000269|PubMed:11836524, ECO:0000269|PubMed:12417715}.
• Pathway: RNA degradation - Homo sapiens (human);TGF-beta Signaling Pathway;Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA;Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA;Metabolism of RNA;TGF_beta_Receptor;Regulation of mRNA stability by proteins that bind AU-rich elements;mRNA decay by 5, to 3, exoribonuclease;Deadenylation-dependent mRNA decay;Regulation of nuclear SMAD2/3 signaling (Consensus)

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.441
• hipred: N
• hipred_score: 0.441

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.964

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dcp1a

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;deadenylation-dependent decapping of nuclear-transcribed mRNA;deadenylation-independent decapping of nuclear-transcribed mRNA;positive regulation of catalytic activity;regulation of mRNA stability;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;protein localization to cytoplasmic stress granule
• Cellular component: P-body;nucleus;cytoplasm;cytosol;membrane;cytoplasmic ribonucleoprotein granule
• Molecular function: protein binding;enzyme activator activity;hydrolase activity;kinesin binding;identical protein binding