LRRC8E

leucine rich repeat containing 8 VRAC subunit E, the group of Volume regulated anion channel subunits

Basic information

Region (hg38): 19:7888505-7902021

Links

ENSG00000171017

∙ NCBI:80131 ∙ OMIM:612891 ∙ HGNC:26272 ∙ Uniprot:Q6NSJ5 ∙ 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 LRRC8E gene.

not_specified (152 variants)
not_provided (3 variants)
Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC8E gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025061.6. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			147 clinvar	6 clinvar	2 clinvar	155
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	147	6	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC8E	protein_coding	protein_coding	ENST00000306708	2	13512

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000174	0.969	125586	0	162	125748	0.000644

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.368	466	489	0.953	0.0000322	5125
Missense in Polyphen		217	235.72	0.92059		2690
Synonymous	0.312	228	234	0.974	0.0000169	1670
Loss of Function	2.01	13	23.5	0.553	0.00000116	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000664	0.000662
Ashkenazi Jewish	0.000497	0.000496
East Asian	0.000381	0.000381
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000936	0.000932
Middle Eastern	0.000381	0.000381
South Asian	0.000755	0.000752
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

Function: FUNCTION: Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine (PubMed:24790029, PubMed:26824658). Mediates efflux of amino acids, such as aspartate, in response to osmotic stress (PubMed:28193731). Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731}.;
Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Intolerance Scores

loftool: 0.925
rvis_EVS: 0.41
rvis_percentile_EVS: 76.51

Haploinsufficiency Scores

pHI: 0.204
hipred: N
hipred_score: 0.429
ghis: 0.467

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.362

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Lrrc8e
Phenotype

Gene ontology

Biological process: cell volume homeostasis;inorganic anion transport;aspartate transmembrane transport;transmembrane transport;cellular response to osmotic stress;anion transmembrane transport
Cellular component: cytoplasm;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;ion channel complex
Molecular function: volume-sensitive anion channel activity;protein binding