POTEH

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

Basic information

Region (hg38): 22:15690026-15721631

Previous symbols: [ "ACTBL1", "A26C3" ]

Links

ENSG00000198062 ∙ NCBI:23784 ∙ OMIM:608913 ∙ HGNC:133 ∙ Uniprot:Q6S545 ∙ 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 POTEH gene.

• not_specified (79 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEH gene is commonly pathogenic or not. These statistics are base on transcript: NM_001136213.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			75	4		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEH	protein_coding	protein_coding	ENST00000343518	10	31497

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.13e-11	0.0314	122758	110	2354	125222	0.00989

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0936	181	177	1.02	0.00000939	3447
Missense in Polyphen		56	52.824	1.0601		1243
Synonymous	-0.314	65	61.9	1.05	0.00000456	876
Loss of Function	-0.354	15	13.6	1.10	6.48e-7	325

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00980	0.00887
Ashkenazi Jewish	0.000118	0.0000995
East Asian	0.000280	0.000272
Finnish	0.0123	0.0108
European (Non-Finnish)	0.0203	0.0167
Middle Eastern	0.000280	0.000272
South Asian	0.00455	0.00341
Other	0.0126	0.0105

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0886

Haploinsufficiency Scores

• pHI: 0.0467

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0633

Gene Damage Prediction

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