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GeneBe

ACHE

acetylcholinesterase (Cartwright blood group), the group of Blood group antigens

Basic information

Region (hg38): 7:100889993-100896974

Previous symbols: [ "YT" ]

Links

ENSG00000087085NCBI:43OMIM:100740HGNC:108Uniprot:P22303AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Blood group, Yt systemBGHematologicVariants associated with a blood group may be important in specific situations (eg, related to transfusion)Hematologic8488842

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACHE 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
5
clinvar
2
clinvar
7
missense
17
clinvar
4
clinvar
1
clinvar
22
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 17 9 3

Variants in ACHE

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

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

Position Type Phenotype Significance ClinVar
7-100891017-G-T ACHE-related disorder Likely benign (Nov 16, 2021)3042137
7-100892396-C-T Likely benign (Jun 01, 2022)2657777
7-100892437-A-G not specified Uncertain significance (Jan 26, 2022)2272935
7-100892453-G-A Likely benign (Mar 29, 2018)737321
7-100892472-A-G not specified Uncertain significance (Apr 05, 2023)2563353
7-100892509-C-T not specified Likely benign (Nov 10, 2022)2358297
7-100892515-C-T not specified Uncertain significance (Oct 05, 2023)3136470
7-100892564-G-A Likely benign (Jun 26, 2018)718317
7-100892629-C-T not specified Uncertain significance (Dec 07, 2021)2266042
7-100892652-T-C not specified Uncertain significance (Mar 08, 2024)3136467
7-100892662-C-G not specified Uncertain significance (Dec 08, 2023)3136464
7-100892727-C-G not specified Uncertain significance (Jun 28, 2023)2607070
7-100893176-G-T YT BLOOD GROUP POLYMORPHISM Benign (May 01, 1993)18335
7-100893189-G-A Likely benign (Jul 11, 2018)741675
7-100893200-C-T Uncertain significance (-)1049898
7-100893201-C-T Benign (Dec 31, 2019)768188
7-100893319-C-T not specified Uncertain significance (Oct 22, 2021)2256439
7-100893387-C-G Likely benign (Jun 05, 2018)748832
7-100893426-C-T Benign (Jul 11, 2018)733662
7-100893442-T-C not specified Uncertain significance (Jul 09, 2021)2235561
7-100893507-C-T not specified Uncertain significance (Aug 08, 2022)2305779
7-100893703-A-G not specified Uncertain significance (Apr 13, 2022)2283523
7-100893740-C-T not specified Uncertain significance (Jun 24, 2022)2295799
7-100893794-C-T not specified Uncertain significance (Aug 08, 2023)2591999
7-100893829-G-C not specified Uncertain significance (Feb 06, 2023)2480619

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACHEprotein_codingprotein_codingENST00000302913 46980
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9980.00173125648021256500.00000796
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.752323840.6050.00002523844
Missense in Polyphen72181.010.397771807
Synonymous-0.5211891801.050.00001281403
Loss of Function4.25123.00.04360.00000143192

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00005850.0000544
Finnish0.000.00
European (Non-Finnish)0.000008820.00000880
Middle Eastern0.00005850.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1517212, ECO:0000269|PubMed:1748670, ECO:0000269|PubMed:2714437}.;
Pathway
Glycerophospholipid metabolism - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction);Phospholipid Biosynthesis;Melatonin metabolism and effects;Acetylcholine Synthesis;Biogenic Amine Synthesis;Monoamine Transport;Peptide hormone metabolism;Metabolism of lipids;Synthesis, secretion, and deacylation of Ghrelin;Metabolism of proteins;Metabolism;ATF-2 transcription factor network;Synthesis of PC;Neuronal System;Glycerophospholipid metabolism;Neurotransmitter clearance;Transmission across Chemical Synapses;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

pRec
0.443

Intolerance Scores

loftool
0.262
rvis_EVS
-0.6
rvis_percentile_EVS
18.14

Haploinsufficiency Scores

pHI
0.191
hipred
Y
hipred_score
0.806
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.998

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ache
Phenotype
respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; vision/eye phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name
ache
Affected structure
Rohon-Beard neuron
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
acetylcholine catabolic process in synaptic cleft;regulation of receptor recycling;osteoblast development;DNA replication;acetylcholine catabolic process;phosphatidylcholine biosynthetic process;cell adhesion;nervous system development;synapse assembly;muscle organ development;cell population proliferation;response to wounding;receptor internalization;negative regulation of synaptic transmission, cholinergic;neurotransmitter biosynthetic process;amyloid precursor protein metabolic process;neurotransmitter receptor biosynthetic process;positive regulation of protein secretion;protein tetramerization;retina development in camera-type eye;positive regulation of cold-induced thermogenesis
Cellular component
extracellular region;basement membrane;extracellular space;nucleus;Golgi apparatus;plasma membrane;cell surface;membrane;cell junction;anchored component of membrane;neuromuscular junction;synaptic cleft;synapse;perinuclear region of cytoplasm
Molecular function
amyloid-beta binding;acetylcholinesterase activity;cholinesterase activity;protein binding;collagen binding;hydrolase activity;serine hydrolase activity;acetylcholine binding;protein homodimerization activity;laminin binding;protein self-association;carboxylic ester hydrolase activity