POTEM

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

Basic information

Region (hg38): 14:18967433-19003752

Links

ENSG00000222036 ∙ NCBI:641455 ∙ ∙ HGNC:37096 ∙ Uniprot:A6NI47 ∙ 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 POTEM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTEM 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			32	4		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	6	0

Variants in POTEM

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

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

Position	Type	Phenotype	Significance	ClinVar
14-18967513-G-A		not specified	Uncertain significance (Oct 10, 2023)
14-18967517-C-T		not specified	Uncertain significance (Aug 02, 2022)
14-18967534-C-A		not specified	Uncertain significance (Jan 03, 2024)
14-18967597-A-C		not specified	Uncertain significance (Jul 11, 2023)
14-18967611-C-G		not specified	Uncertain significance (Jun 10, 2024)
14-18967632-C-T			Likely benign (Dec 01, 2022)
14-18967635-T-G		not specified	Uncertain significance (Sep 16, 2021)
14-18967637-A-T		not specified	Uncertain significance (May 21, 2024)
14-18967638-T-G		not specified	Uncertain significance (Aug 16, 2021)
14-18967639-T-C		not specified	Uncertain significance (May 06, 2024)
14-18967645-A-G		not specified	Uncertain significance (Oct 10, 2023)
14-18967667-T-C		not specified	Uncertain significance (May 05, 2023)
14-18967672-A-G		not specified	Uncertain significance (Jun 12, 2023)
14-18967681-C-T		not specified	Likely benign (Feb 10, 2022)
14-18967721-A-G		not specified	Uncertain significance (Feb 17, 2024)
14-18967736-G-A		not specified	Uncertain significance (Nov 07, 2022)
14-18967740-C-A		not specified	Uncertain significance (Aug 11, 2022)
14-18967768-A-G		not specified	Uncertain significance (May 24, 2023)
14-18967817-G-A		not specified	Uncertain significance (Oct 10, 2023)
14-18967829-G-A		not specified	Uncertain significance (Jun 17, 2024)
14-18967840-C-A		not specified	Uncertain significance (Feb 15, 2023)
14-18967891-C-T		not specified	Uncertain significance (Jan 18, 2023)
14-18967928-G-C		not specified	Likely benign (Oct 12, 2022)
14-18967929-G-T		not specified	Uncertain significance (Feb 05, 2024)
14-18967954-C-T		not specified	Uncertain significance (Mar 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTEM	protein_coding	protein_coding	ENST00000409832	10	36714

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.87e-11	0.0305	125547	0	131	125678	0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.41	187	140	1.33	0.00000752	3107
Missense in Polyphen		39	32.211	1.2107		776
Synonymous	-1.27	57	46.1	1.24	0.00000298	792
Loss of Function	-0.369	15	13.5	1.11	6.30e-7	304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00637	0.00599
Ashkenazi Jewish	0.000111	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000477	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.000457	0.000425
Other	0.00101	0.000978

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255

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