POTEF

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

Basic information

Region (hg38): 2:130073535-130129222

Previous symbols: [ "A26C1B" ]

Links

ENSG00000196604 ∙ NCBI:728378 ∙ ∙ HGNC:33905 ∙ Uniprot:A5A3E0 ∙ 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 POTEF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEF 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				3	1	4
missense						0
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	3	1

Variants in POTEF

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

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

Position	Type	Phenotype	Significance	ClinVar
2-130074331-G-A			Benign (Dec 01, 2022)
2-130074616-G-A			Likely benign (Dec 01, 2022)
2-130074808-G-A			Likely benign (Mar 01, 2023)
2-130115218-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
2-130120234-G-C			Likely benign (Feb 01, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEF	protein_coding	protein_coding	ENST00000357462	15	55688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000545	0.882	124598	0	39	124637	0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.74	580	422	1.38	0.0000239	7065
Missense in Polyphen		253	191.07	1.3242		3065
Synonymous	-3.19	216	164	1.32	0.0000108	1888
Loss of Function	1.53	11	18.0	0.612	8.32e-7	432

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00152	0.00151
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000727	0.0000709
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000165	0.000164

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;cell cortex;extracellular exosome;blood microparticle