GeneBe

ELAPOR1

endosome-lysosome associated apoptosis and autophagy regulator 1

Basic information

Region (hg38): 1:109113679-109206781

Previous symbols: [ "KIAA1324" ]

Links

ENSG00000116299 ∙ NCBI:57535 ∙ OMIM:611298 ∙ HGNC:29618 ∙ Uniprot:Q6UXG2 ∙ 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 ELAPOR1 gene.

  • not_specified (136 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELAPOR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020775.5. 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
2
clinvar
 2
missense
134
clinvar
2
clinvar
 136
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 134 2 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ELAPOR1protein_codingprotein_codingENST00000369939 2293101
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.03e-131.001256511961257480.000386
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.124995750.8680.00003116592
Missense in Polyphen162225.80.717452669
Synonymous0.2712322370.9780.00001481973
Loss of Function3.212954.60.5310.00000280627

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001040.00104
Ashkenazi Jewish0.000.00
East Asian0.0007700.000761
Finnish0.00004620.0000462
European (Non-Finnish)0.0003730.000352
Middle Eastern0.0007700.000761
South Asian0.0005240.000490
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway. {ECO:0000269|PubMed:21072319}.;

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.926
rvis_EVS
-0.5
rvis_percentile_EVS
21.84

Haploinsufficiency Scores

pHI
0.189
hipred
Y
hipred_score
0.554
ghis
0.437

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.247

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
5330417C22Rik
Phenotype
vision/eye phenotype; immune 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; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
autophagosome assembly;cellular response to starvation;positive regulation of vacuole organization;positive regulation of autophagosome assembly
Cellular component
lysosome;lysosomal membrane;late endosome;trans-Golgi network;plasma membrane;integral component of plasma membrane;late endosome membrane;extracellular exosome
Molecular function
RNA binding