ACHE
acetylcholinesterase (Cartwright blood group), the group of Blood group antigens
Basic information
Region (hg38): 7:100889994-100896974
Previous symbols: [ "YT" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| 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
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 | 7 | |||||
| missense | 17 | 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) | ||
| 7-100891181-G-C | not specified | Uncertain significance (May 02, 2024) | ||
| 7-100892340-C-T | not specified | Uncertain significance (Jun 20, 2024) | ||
| 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) | |||
| 7-100892598-C-T | not specified | Uncertain significance (Apr 26, 2024) | ||
| 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 (-) | ||
| 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) |
GnomAD
Source:
| 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:
- 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