GeneBe

PECR

peroxisomal trans-2-enoyl-CoA reductase, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 2:215996329-216082955

Links

ENSG00000115425 ∙ NCBI:55825 ∙ OMIM:605843 ∙ HGNC:18281 ∙ Uniprot:Q9BY49 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

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

  • not_specified (45 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PECR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018441.6. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
45
clinvar
1
clinvar
 46
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 45 0 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PECRprotein_codingprotein_codingENST00000265322 886627
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.00e-80.3611257190291257480.000115
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.04741641660.9900.000008711949
Missense in Polyphen6868.8740.9873767
Synonymous-1.057463.31.170.00000335605
Loss of Function0.7051316.00.8108.96e-7177

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005660.000564
Ashkenazi Jewish0.00009920.0000992
East Asian0.00005450.0000544
Finnish0.000.00
European (Non-Finnish)0.00009690.0000879
Middle Eastern0.00005450.0000544
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity.;
Pathway
Peroxisome - Homo sapiens (human);Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Allograft Rejection;Fatty Acid Biosynthesis;Mitochondrial LC-Fatty Acid Beta-Oxidation;Liver steatosis AOP;Metabolism of lipids;Metabolism of proteins;Alpha-oxidation of phytanate;Saturated fatty acids beta-oxidation;Peroxisomal lipid metabolism;Metabolism;Peroxisomal protein import;Fatty acid metabolism;phytol degradation (Consensus)

Recessive Scores

pRec
0.0599

Intolerance Scores

loftool
0.457
rvis_EVS
0.35
rvis_percentile_EVS
74.49

Haploinsufficiency Scores

pHI
0.0981
hipred
N
hipred_score
0.169
ghis
0.424

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.979

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Pecr
Phenotype

Gene ontology

Biological process
fatty acid alpha-oxidation;protein targeting to peroxisome;fatty acid biosynthetic process;phytol metabolic process;oxidation-reduction process
Cellular component
mitochondrion;peroxisome;peroxisomal membrane;cytosol
Molecular function
signaling receptor binding;2,4-dienoyl-CoA reductase (NADPH) activity;trans-2-enoyl-CoA reductase (NADPH) activity