POTEE

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

Basic information

Region (hg38): 2:131209535-131265278

Previous symbols: [ "A26C1A" ]

Links

ENSG00000188219 ∙ NCBI:445582 ∙ OMIM:608914 ∙ HGNC:33895 ∙ Uniprot:Q6S8J3 ∙ 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 POTEE gene.

Variants pathogenicity by type

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

Variants in POTEE

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

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

Position	Type	Phenotype	Significance	ClinVar
2-131218415-G-A			Likely benign (Dec 01, 2022)
2-131218648-T-C			Likely benign (Aug 01, 2022)
2-131218873-C-G			Likely benign (Dec 01, 2022)
2-131263612-C-T			Likely benign (Jun 01, 2023)
2-131263867-G-A			Likely benign (Jul 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEE	protein_coding	protein_coding	ENST00000356920	15	47084

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00119	0.961	125687	0	16	125703	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.73	505	359	1.41	0.0000210	6974
Missense in Polyphen		163	111.75	1.4586		1884
Synonymous	-4.82	211	139	1.52	0.00000925	1850
Loss of Function	1.83	7	14.5	0.482	6.57e-7	430

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000270	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000713	0.0000704
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.637

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;substantia nigra development
• Cellular component: extracellular space;extracellular exosome;blood microparticle
• Molecular function: molecular_function