POTEJ

POTE ankyrin domain family member J, the group of POTE ankyrin domain containing

Basic information

Region (hg38): 2:130611440-130658037

Links

ENSG00000222038 ∙ NCBI:653781 ∙ ∙ HGNC:37094 ∙ Uniprot:P0CG39 ∙ 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 POTEJ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEJ 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				1		1
missense				1	1	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	1

Variants in POTEJ

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

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

Position	Type	Phenotype	Significance	ClinVar
2-130632618-T-C			Likely benign (Jan 01, 2025)
2-130656785-C-T			Likely benign (Mar 01, 2025)
2-130656837-G-C			Likely benign (Apr 01, 2025)
2-130656968-C-T			Likely benign (Sep 01, 2024)
2-130657378-G-A			Benign (Oct 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEJ	protein_coding	protein_coding	ENST00000409602	15	46611

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-8	0.260	125075	1	63	125139	0.000256

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.31	433	317	1.36	0.0000181	6760
Missense in Polyphen		79	54.554	1.4481		816
Synonymous	-2.85	161	121	1.33	0.00000769	1812
Loss of Function	0.514	13	15.2	0.858	6.91e-7	510

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00127	0.00123
Ashkenazi Jewish	0.000336	0.000298
East Asian	0.000497	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000119	0.000106
Middle Eastern	0.000497	0.000489
South Asian	0.000133	0.000131
Other	0.000379	0.000328

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: retina homeostasis
• Cellular component: extracellular space;extracellular exosome