POTEI

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

Basic information

Region (hg38): 2:130459455-130509707

Links

ENSG00000196834 ∙ NCBI:653269 ∙ ∙ HGNC:37093 ∙ Uniprot:P0CG38 ∙ 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 POTEI gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEI 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
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	0

Variants in POTEI

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

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

Position	Type	Phenotype	Significance	ClinVar
2-130508978-G-C			Likely benign (Jun 01, 2023)
2-130509040-A-G			Likely benign (Jan 01, 2025)
2-130509194-C-T			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEI	protein_coding	protein_coding	ENST00000451531	15	50212

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.16e-9	0.0304	125340	6	262	125608	0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.66	337	225	1.50	0.0000130	6996
Missense in Polyphen		113	66.02	1.7116		1685
Synonymous	-3.59	129	86.5	1.49	0.00000581	1882
Loss of Function	-1.06	11	7.79	1.41	3.89e-7	423

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0138	0.0119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000344	0.000217
Finnish	0.00120	0.00120
European (Non-Finnish)	0.000269	0.000255
Middle Eastern	0.000344	0.000217
South Asian	0.0000660	0.0000653
Other	0.00143	0.00114

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

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
• Molecular function: molecular_function