POTEG

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

Basic information

Region (hg38): 14:19402485-19434341

Previous symbols: [ "A26C2" ]

Links

ENSG00000187537 ∙ NCBI:404785 ∙ OMIM:608916 ∙ HGNC:33896 ∙ Uniprot:Q6S5H5 ∙ 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 POTEG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEG 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				2		2
missense			33	4		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	6	0

Variants in POTEG

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

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

Position	Type	Phenotype	Significance	ClinVar
14-19413389-C-G		not specified	Uncertain significance (Nov 06, 2023)
14-19413389-C-T			Likely benign (May 01, 2022)
14-19413429-C-A		not specified	Uncertain significance (May 22, 2023)
14-19413457-C-T		not specified	Uncertain significance (May 01, 2024)
14-19413496-C-T		not specified	Uncertain significance (Jan 08, 2024)
14-19414588-C-T		not specified	Uncertain significance (Mar 23, 2022)
14-19414591-G-T		not specified	Uncertain significance (Jul 20, 2022)
14-19416319-C-G		not specified	Uncertain significance (May 30, 2023)
14-19416341-T-C		not specified	Uncertain significance (Jun 29, 2023)
14-19424216-T-A		not specified	Uncertain significance (Mar 01, 2023)
14-19424217-C-A		not specified	Uncertain significance (Jan 17, 2024)
14-19424244-C-T		not specified	Uncertain significance (May 24, 2023)
14-19424250-G-C		not specified	Uncertain significance (Jan 23, 2023)
14-19424265-T-C		not specified	Uncertain significance (May 08, 2024)
14-19425670-G-C		not specified	Uncertain significance (Jan 04, 2024)
14-19428550-T-G		not specified	Uncertain significance (Nov 30, 2022)
14-19428556-C-T		not specified	Uncertain significance (Aug 02, 2021)
14-19428559-T-C		not specified	Uncertain significance (Nov 09, 2021)
14-19428567-C-A		not specified	Uncertain significance (Jan 22, 2024)
14-19428590-C-T		not specified	Likely benign (Nov 21, 2022)
14-19428606-T-C		not specified	Uncertain significance (Nov 18, 2022)
14-19428657-G-A		not specified	Uncertain significance (Jun 22, 2023)
14-19428670-G-A		not specified	Uncertain significance (Mar 20, 2023)
14-19428675-A-G		not specified	Uncertain significance (Mar 12, 2024)
14-19428691-A-G		not specified	Uncertain significance (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEG	protein_coding	protein_coding	ENST00000551509	10	36714

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000316	0.600	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.126	103	99.5	1.04	0.00000559	3261
Missense in Polyphen		33	40.099	0.82297		1573
Synonymous	-0.641	39	34.2	1.14	0.00000246	849
Loss of Function	0.605	6	7.83	0.767	3.99e-7	320

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: 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