ACHE

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

Basic information

Region (hg38): 7:100889993-100896974

Previous symbols: [ "YT" ]

Links

ENSG00000087085 ∙ NCBI:43 ∙ OMIM:100740 ∙ HGNC:108 ∙ Uniprot:P22303 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Yt system	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	8488842

ClinVar

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

• Inborn genetic diseases (15 variants)
• not provided (10 variants)

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	2	7
missense			14	2	2	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	7	4

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)
7-100892396-C-T			Likely benign (Jun 01, 2022)
7-100892437-A-G		not specified	Uncertain significance (Jan 26, 2022)
7-100892453-G-A			Likely benign (Mar 29, 2018)
7-100892472-A-G		not specified	Uncertain significance (Apr 05, 2023)
7-100892509-C-T		not specified	Likely benign (Nov 10, 2022)
7-100892515-C-T		not specified	Uncertain significance (Oct 05, 2023)
7-100892564-G-A			Likely benign (Jun 26, 2018)
7-100892629-C-T		not specified	Uncertain significance (Dec 07, 2021)
7-100892652-T-C		not specified	Uncertain significance (Mar 08, 2024)
7-100892662-C-G		not specified	Uncertain significance (Dec 08, 2023)
7-100892727-C-G		not specified	Uncertain significance (Jun 28, 2023)
7-100893176-G-T		YT BLOOD GROUP POLYMORPHISM	Benign (May 01, 1993)
7-100893189-G-A			Likely benign (Jul 11, 2018)
7-100893200-C-T			Uncertain significance (-)
7-100893201-C-T			Benign (Dec 31, 2019)
7-100893319-C-T		not specified	Uncertain significance (Oct 22, 2021)
7-100893387-C-G			Likely benign (Jun 05, 2018)
7-100893426-C-T			Benign (Jul 11, 2018)
7-100893442-T-C		not specified	Uncertain significance (Jul 09, 2021)
7-100893507-C-T		not specified	Uncertain significance (Aug 08, 2022)
7-100893703-A-G		not specified	Uncertain significance (Apr 13, 2022)
7-100893740-C-T		not specified	Uncertain significance (Jun 24, 2022)
7-100893794-C-T		not specified	Uncertain significance (Aug 08, 2023)
7-100893829-G-C		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACHE	protein_coding	protein_coding	ENST00000302913	4	6980

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00173	125648	0	2	125650	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.75	232	384	0.605	0.0000252	3844
Missense in Polyphen		72	181.01	0.39777		1807
Synonymous	-0.521	189	180	1.05	0.0000128	1403
Loss of Function	4.25	1	23.0	0.0436	0.00000143	192

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000585	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000880
Middle Eastern	0.0000585	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

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

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

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