ELAPOR2

endosome-lysosome associated apoptosis and autophagy regulator family member 2

Basic information

Region (hg38): 7:86876906-87059654

Previous symbols: [ "KIAA1324L" ]

Links

ENSG00000164659 ∙ NCBI:222223 ∙ OMIM:614048 ∙ HGNC:21945 ∙ Uniprot:A8MWY0 ∙ 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 ELAPOR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELAPOR2 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						0
missense			53	3		56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	3	0

Variants in ELAPOR2

This is a list of pathogenic ClinVar variants found in the ELAPOR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-86880476-T-C		not specified	Uncertain significance (Sep 01, 2021)
7-86880501-T-G		not specified	Uncertain significance (Mar 24, 2023)
7-86880518-G-A		not specified	Uncertain significance (Feb 22, 2023)
7-86891765-T-C		not specified	Uncertain significance (Sep 13, 2023)
7-86891791-T-A		not specified	Uncertain significance (Mar 25, 2022)
7-86891827-G-A		not specified	Uncertain significance (Dec 16, 2023)
7-86891857-G-A		not specified	Uncertain significance (Mar 29, 2022)
7-86891858-T-C		not specified	Uncertain significance (Apr 18, 2023)
7-86892937-C-A		not specified	Uncertain significance (Oct 26, 2022)
7-86892950-T-A		not specified	Uncertain significance (Feb 27, 2023)
7-86893015-A-G		not specified	Uncertain significance (Apr 09, 2024)
7-86893018-G-A		not specified	Uncertain significance (Jun 01, 2023)
7-86893030-G-A		not specified	Uncertain significance (Jan 08, 2024)
7-86893031-C-A		not specified	Likely benign (Jan 08, 2024)
7-86897539-A-T		not specified	Uncertain significance (Jan 02, 2024)
7-86897555-G-A		not specified	Uncertain significance (Sep 15, 2021)
7-86897600-G-A		not specified	Uncertain significance (Aug 02, 2021)
7-86897621-G-A		not specified	Uncertain significance (Jul 26, 2021)
7-86907686-C-T		not specified	Uncertain significance (May 11, 2022)
7-86907736-C-T		not specified	Uncertain significance (Nov 09, 2022)
7-86907761-C-T		not specified	Likely benign (Jun 16, 2023)
7-86908472-T-C		not specified	Uncertain significance (Feb 07, 2023)
7-86909854-C-G		not specified	Uncertain significance (Jun 18, 2024)
7-86909914-C-T		not specified	Uncertain significance (Apr 25, 2023)
7-86909938-C-T		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELAPOR2	protein_coding	protein_coding	ENST00000450689	22	182794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000204	1.00	125708	0	37	125745	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.15	367	503	0.730	0.0000243	6753
Missense in Polyphen		105	185.13	0.56717		2382
Synonymous	0.981	169	186	0.908	0.0000100	1915
Loss of Function	4.11	17	47.6	0.357	0.00000209	693

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000473	0.000473
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000134	0.000132
Middle Eastern	0.000164	0.000163
South Asian	0.000199	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.802
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.98

Haploinsufficiency Scores

• pHI: 0.423
• hipred: N
• hipred_score: 0.466
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.521

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9330182L06Rik

Gene ontology

• Cellular component: integral component of membrane