DERA

deoxyribose-phosphate aldolase

Basic information

Region (hg38): 12:15911302-16037381

Links

ENSG00000023697 ∙ NCBI:51071 ∙ OMIM:619668 ∙ HGNC:24269 ∙ Uniprot:Q9Y315 ∙ 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 DERA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DERA 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in DERA

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

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

Position	Type	Phenotype	Significance	ClinVar
12-15956971-C-T		not specified	Uncertain significance (Sep 07, 2024)
12-15956986-C-T		not specified	Uncertain significance (Jun 11, 2021)
12-15956990-C-T		not specified	Uncertain significance (Dec 19, 2023)
12-15957028-T-A		not specified	Uncertain significance (Nov 09, 2023)
12-15957030-G-T		not specified	Uncertain significance (May 17, 2023)
12-15958296-C-G		not specified	Uncertain significance (Oct 20, 2021)
12-15958296-C-T		not specified	Uncertain significance (Oct 23, 2024)
12-15959864-C-G		not specified	Uncertain significance (Jan 23, 2024)
12-15959864-C-T		not specified	Uncertain significance (Mar 01, 2024)
12-15959894-G-T		not specified	Uncertain significance (May 26, 2024)
12-15959907-A-G		not specified	Uncertain significance (Sep 22, 2022)
12-15962906-T-C		not specified	Uncertain significance (Jul 27, 2021)
12-15982325-C-T		not specified	Uncertain significance (May 29, 2024)
12-15982355-C-T		not specified	Uncertain significance (Aug 02, 2023)
12-15982358-C-T		not specified	Uncertain significance (Mar 01, 2023)
12-15982377-C-G		not specified	Uncertain significance (Apr 07, 2022)
12-15982409-A-G		not specified	Uncertain significance (Jun 03, 2024)
12-15982421-A-G		not specified	Uncertain significance (Oct 06, 2021)
12-16032578-C-G		not specified	Uncertain significance (Jun 05, 2023)
12-16032587-C-G		not specified	Uncertain significance (Dec 27, 2023)
12-16036259-C-T		not specified	Uncertain significance (Dec 04, 2024)
12-16036260-G-A		not specified	Uncertain significance (May 10, 2022)
12-16036266-C-T		not specified	Uncertain significance (Dec 20, 2023)
12-16036353-G-A		not specified	Uncertain significance (Jun 07, 2023)
12-16036379-C-G		not specified	Uncertain significance (Dec 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DERA	protein_coding	protein_coding	ENST00000428559	9	126115

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000373	0.959	124608	0	45	124653	0.000181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.127	158	163	0.972	0.00000891	2018
Missense in Polyphen		62	65.154	0.95159		772
Synonymous	-0.0176	58	57.8	1.00	0.00000337	620
Loss of Function	1.82	8	15.8	0.505	8.23e-7	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000687	0.000687
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000146	0.000142
Middle Eastern	0.00	0.00
South Asian	0.000311	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy- D-ribose 5-phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation. {ECO:0000269|PubMed:25229427}.
• Pathway: Pentose phosphate pathway - Homo sapiens (human);Pentose Phosphate Pathway;Glucose-6-phosphate dehydrogenase deficiency;Ribose-5-phosphate isomerase deficiency;Transaldolase deficiency;Neutrophil degranulation;Pentose phosphate pathway (hexose monophosphate shunt);Metabolism of carbohydrates;Innate Immune System;Immune System;Metabolism;2,-deoxy-α-D-ribose 1-phosphate degradation (Consensus)

Recessive Scores

• pRec: 0.180

Intolerance Scores

• loftool: 0.528
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.37

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.380
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.976

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dera

Gene ontology

• Biological process: pentose-phosphate shunt;deoxyribonucleotide catabolic process;carbohydrate catabolic process;neutrophil degranulation;deoxyribonucleoside catabolic process;deoxyribose phosphate catabolic process
• Cellular component: extracellular region;nucleus;cytosol;secretory granule lumen;ficolin-1-rich granule lumen
• Molecular function: deoxyribose-phosphate aldolase activity