DCP1B

decapping mRNA 1B

Basic information

Region (hg38): 12:1946053-2004535

Links

ENSG00000151065NCBI:196513OMIM:609843HGNC:24451Uniprot:Q8IZD4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DCP1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCP1B 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
2
clinvar
1
clinvar
3
missense
33
clinvar
3
clinvar
2
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 33 5 3

Variants in DCP1B

This is a list of pathogenic ClinVar variants found in the DCP1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
12-1946226-C-T not specified Uncertain significance (Oct 04, 2022)2216483
12-1946235-T-A not specified Uncertain significance (Dec 19, 2023)3080572
12-1946267-T-G not specified Uncertain significance (Mar 24, 2023)2529686
12-1949153-G-A not specified Uncertain significance (Jul 13, 2021)3080571
12-1949158-C-T Benign (Dec 31, 2019)776685
12-1949229-C-T not specified Uncertain significance (Jan 17, 2024)3080570
12-1949230-G-A Likely benign (Dec 31, 2019)712109
12-1949253-C-T not specified Uncertain significance (Aug 14, 2023)2591783
12-1949259-T-G not specified Uncertain significance (Sep 25, 2023)3080569
12-1949318-C-T not specified Uncertain significance (Mar 15, 2024)3271108
12-1952483-G-A not specified Uncertain significance (Dec 02, 2022)2331904
12-1952486-C-G not specified Uncertain significance (Apr 07, 2023)2513770
12-1952531-C-T not specified Uncertain significance (Dec 20, 2023)3080568
12-1952561-T-C not specified Uncertain significance (Aug 19, 2023)2619530
12-1952574-G-A not specified Uncertain significance (Oct 22, 2021)2411528
12-1952734-C-G not specified Uncertain significance (Jun 30, 2022)2299298
12-1952763-G-A not specified Uncertain significance (Dec 22, 2023)2390251
12-1952780-G-A not specified Uncertain significance (Apr 07, 2022)2281712
12-1952785-G-C not specified Uncertain significance (Apr 25, 2023)2540547
12-1952789-C-T Benign (Dec 31, 2019)781059
12-1952829-G-A not specified Uncertain significance (Jul 13, 2021)2273883
12-1952860-C-G not specified Uncertain significance (Dec 13, 2022)2388475
12-1952883-G-T not specified Uncertain significance (Nov 07, 2023)3080567
12-1952910-G-A not specified Uncertain significance (Dec 07, 2021)2395064
12-1952924-T-A not specified Uncertain significance (Oct 07, 2022)2352546

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCP1Bprotein_codingprotein_codingENST00000280665 958482
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.60e-100.5941256770711257480.000282
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5323083350.9180.00001674011
Missense in Polyphen5075.010.66658996
Synonymous-0.2731331291.030.000006751258
Loss of Function1.341926.40.7190.00000122313

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001040.00104
Ashkenazi Jewish0.000.00
East Asian0.0006620.000653
Finnish0.000.00
European (Non-Finnish)0.0002310.000229
Middle Eastern0.0006620.000653
South Asian0.0001160.0000980
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (By similarity). {ECO:0000250}.;
Pathway
RNA degradation - Homo sapiens (human);Metabolism of RNA;p73 transcription factor network;mRNA decay by 5, to 3, exoribonuclease;Deadenylation-dependent mRNA decay (Consensus)

Recessive Scores

pRec
0.0845

Intolerance Scores

loftool
0.833
rvis_EVS
0.71
rvis_percentile_EVS
85.76

Haploinsufficiency Scores

pHI
0.0877
hipred
N
hipred_score
0.379
ghis
0.465

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.841

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dcp1b
Phenotype

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;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
Cellular component
P-body;nucleus;cytosol;membrane;intracellular membrane-bounded organelle
Molecular function
protein binding;enzyme activator activity;hydrolase activity