ALDOC

aldolase, fructose-bisphosphate C, the group of Aldolases|Endoribonucleases

Basic information

Region (hg38): 17:28573114-28576948

Links

ENSG00000109107 ∙ NCBI:230 ∙ OMIM:103870 ∙ HGNC:418 ∙ Uniprot:P09972 ∙ 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 ALDOC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDOC 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				1		1
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	1	0

Variants in ALDOC

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

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

Position	Type	Phenotype	Significance	ClinVar
17-28573782-G-T			Likely benign (Jul 27, 2018)
17-28573823-C-T		not specified	Uncertain significance (Oct 04, 2022)
17-28573844-G-A		not specified	Uncertain significance (Dec 27, 2023)
17-28574090-C-T		not specified	Uncertain significance (Sep 25, 2023)
17-28574140-G-C		not specified	Uncertain significance (Dec 19, 2022)
17-28574159-G-A		not specified	Uncertain significance (Nov 17, 2022)
17-28574505-C-T		not specified	Uncertain significance (Sep 26, 2023)
17-28574516-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-28574519-T-C		not specified	Uncertain significance (Jun 30, 2023)
17-28574719-G-A		not specified	Uncertain significance (Jan 07, 2022)
17-28574728-C-T		not specified	Uncertain significance (May 06, 2024)
17-28574730-T-C		not specified	Uncertain significance (Oct 12, 2022)
17-28574760-G-A		not specified	Uncertain significance (Nov 02, 2023)
17-28574767-G-A		not specified	Uncertain significance (Sep 14, 2022)
17-28574785-C-T		not specified	Uncertain significance (Apr 01, 2024)
17-28574791-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-28574829-G-T		not specified	Uncertain significance (Oct 05, 2023)
17-28574988-G-C		not specified	Uncertain significance (Jun 11, 2021)
17-28575160-C-T		not specified	Uncertain significance (Aug 02, 2021)
17-28575212-A-C		not specified	Uncertain significance (Apr 24, 2024)
17-28575218-C-T		not specified	Uncertain significance (Nov 01, 2022)
17-28575456-G-A		not specified	Uncertain significance (Feb 28, 2023)
17-28575478-T-C		not specified	Uncertain significance (Jan 10, 2022)
17-28575516-G-A		not specified	Uncertain significance (May 10, 2024)
17-28575526-G-T		not specified	Uncertain significance (Aug 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALDOC	protein_coding	protein_coding	ENST00000226253	8	4150

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0922	0.906	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	171	218	0.786	0.0000143	2340
Missense in Polyphen		48	75.248	0.63789		870
Synonymous	0.905	74	84.6	0.875	0.00000490	765
Loss of Function	2.77	5	17.5	0.286	0.00000103	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000220	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.000220	0.000217
South Asian	0.000163	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Glycolysis / Gluconeogenesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);Pentose phosphate pathway - Homo sapiens (human);Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Neutrophil degranulation;Metabolism of carbohydrates;Fructose Mannose metabolism;Glycolysis Gluconeogenesis;Innate Immune System;Immune System;Metabolism;Pentose phosphate cycle;Glycolysis;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Gluconeogenesis;Glucose metabolism;sucrose degradation (Consensus)

Recessive Scores

• pRec: 0.433

Intolerance Scores

• loftool: 0.296
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.59

Haploinsufficiency Scores

• pHI: 0.361
• hipred: Y
• hipred_score: 0.777
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aldoc
• Phenotype: renal/urinary system phenotype; normal phenotype

Gene ontology

• Biological process: fructose metabolic process;gluconeogenesis;fructose 1,6-bisphosphate metabolic process;epithelial cell differentiation;neutrophil degranulation;canonical glycolysis
• Cellular component: extracellular region;cytosol;cytoskeleton;secretory granule lumen;extracellular exosome;tertiary granule lumen;ficolin-1-rich granule lumen
• Molecular function: fructose-bisphosphate aldolase activity;protein binding;cytoskeletal protein binding