POTED

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

Basic information

Region (hg38): 21:13609776-13645823

Previous symbols: [ "ANKRD21", "A26B3" ]

Links

ENSG00000166351 ∙ NCBI:317754 ∙ OMIM:607549 ∙ HGNC:23822 ∙ Uniprot:Q86YR6 ∙ 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 POTED gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POTED 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						0
missense			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in POTED

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

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

Position	Type	Phenotype	Significance	ClinVar
21-13610310-T-C		not specified	Uncertain significance (Aug 09, 2021)
21-13610343-G-A		not specified	Uncertain significance (Aug 17, 2022)
21-13610378-C-G		not specified	Uncertain significance (Jul 06, 2021)
21-13610390-G-A		not specified	Uncertain significance (Dec 19, 2022)
21-13610401-G-A		not specified	Uncertain significance (Jul 06, 2021)
21-13610407-A-T		not specified	Uncertain significance (Feb 06, 2024)
21-13610417-G-T		not specified	Uncertain significance (Jan 24, 2023)
21-13610458-C-T		not specified	Uncertain significance (Dec 13, 2021)
21-13610475-T-A		not specified	Uncertain significance (May 04, 2022)
21-13610476-C-T		not specified	Uncertain significance (May 04, 2022)
21-13610485-A-T		not specified	Uncertain significance (May 04, 2022)
21-13610620-C-T		not specified	Uncertain significance (Apr 22, 2022)
21-13610640-G-A		not specified	Likely benign (Jun 03, 2022)
21-13610703-G-A		not specified	Uncertain significance (Dec 19, 2022)
21-13615149-A-G		not specified	Uncertain significance (Oct 21, 2021)
21-13615181-G-A		not specified	Uncertain significance (Oct 25, 2022)
21-13615416-A-C		not specified	Uncertain significance (Nov 12, 2021)
21-13615503-A-G		not specified	Uncertain significance (Mar 22, 2022)
21-13618376-G-A		not specified	Uncertain significance (Oct 26, 2021)
21-13620240-C-A		not specified	Uncertain significance (Jul 12, 2023)
21-13620259-C-T		not specified	Uncertain significance (Apr 06, 2022)
21-13620269-G-T		not specified	Likely benign (Nov 13, 2023)
21-13628442-G-T		not specified	Uncertain significance (Sep 14, 2022)
21-13630941-G-T		not specified	Uncertain significance (Jun 16, 2023)
21-13630977-G-A		not specified	Likely benign (Feb 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POTED	protein_coding	protein_coding	ENST00000299443	11	31409

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000414	0.424	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.632	84	102	0.824	0.00000571	3891
Missense in Polyphen		19	28.062	0.67708		1355
Synonymous	2.88	15	37.4	0.401	0.00000244	1007
Loss of Function	0.0263	5	5.06	0.987	2.15e-7	327

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

• 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

Gene ontology

• Cellular component: plasma membrane