HTR3E

5-hydroxytryptamine receptor 3E, the group of 5-hydroxytryptamine receptors, ionotropic

Basic information

Region (hg38): 3:184097064-184106995

Links

ENSG00000186038NCBI:285242OMIM:610123HGNC:24005Uniprot:A5X5Y0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HTR3E gene.

  • not_specified (68 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HTR3E gene is commonly pathogenic or not. These statistics are base on transcript: NM_001256613.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
53
clinvar
12
clinvar
1
clinvar
66
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 53 13 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HTR3Eprotein_codingprotein_codingENST00000440596 79932
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.23e-100.055912542103261257470.00130
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5113112871.080.00001683149
Missense in Polyphen6255.2631.1219761
Synonymous0.8671091210.9000.00000777976
Loss of Function-0.1831413.31.055.60e-7176

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003660.000365
Ashkenazi Jewish0.000.00
East Asian0.008860.00890
Finnish0.0001850.000185
European (Non-Finnish)0.0001160.000114
Middle Eastern0.008860.00890
South Asian0.004440.00445
Other0.0004900.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel.;
Pathway
Serotonergic synapse - Homo sapiens (human);Taste transduction - Homo sapiens (human);Neuronal System;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses (Consensus)

Intolerance Scores

loftool
0.390
rvis_EVS
0.02
rvis_percentile_EVS
55.76

Haploinsufficiency Scores

pHI
0.0848
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.262

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
signal transduction;serotonin receptor signaling pathway;chemical synaptic transmission;ion transmembrane transport;regulation of membrane potential;nervous system process
Cellular component
plasma membrane;integral component of plasma membrane;neuron projection;synapse
Molecular function
transmembrane signaling receptor activity;extracellular ligand-gated ion channel activity;serotonin-gated cation-selective channel activity