KCTD14

potassium channel tetramerization domain containing 14, the group of KCTD family

Basic information

Region (hg38): 11:78015714-78046191

Links

ENSG00000151364 ∙ NCBI:65987 ∙ ∙ HGNC:23295 ∙ Uniprot:Q9BQ13 ∙ 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 KCTD14 gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCTD14 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	15	0	0

Variants in KCTD14

This is a list of pathogenic ClinVar variants found in the KCTD14 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-78016633-A-C		not specified	Uncertain significance (Jan 23, 2023)
11-78016667-A-T		not specified	Uncertain significance (Sep 01, 2021)
11-78016690-T-G		not specified	Uncertain significance (Oct 29, 2021)
11-78016727-C-T		not specified	Uncertain significance (Apr 12, 2023)
11-78016743-C-T		not specified	Likely benign (Jan 03, 2024)
11-78016822-G-A		not specified	Uncertain significance (Jul 08, 2022)
11-78016832-C-T		not specified	Uncertain significance (Mar 20, 2023)
11-78016844-C-G		not specified	Uncertain significance (Nov 08, 2022)
11-78016879-A-T		not specified	Uncertain significance (Jul 19, 2023)
11-78016900-C-T		not specified	Uncertain significance (May 08, 2023)
11-78016922-C-T		not specified	Uncertain significance (Jan 04, 2024)
11-78017021-C-T		not specified	Uncertain significance (Aug 12, 2021)
11-78017119-C-T		not specified	Uncertain significance (Apr 13, 2022)
11-78017123-C-T		not specified	Uncertain significance (Jan 08, 2024)
11-78017228-T-C		not specified	Uncertain significance (Sep 14, 2022)
11-78017229-G-T		not specified	Uncertain significance (Mar 06, 2023)
11-78017243-C-T		not specified	Uncertain significance (Dec 08, 2023)
11-78017246-C-A		not specified	Uncertain significance (Apr 17, 2023)
11-78023182-G-T		not specified	Uncertain significance (Aug 09, 2021)
11-78038702-C-T		not specified	Uncertain significance (Jul 12, 2022)
11-78038743-A-G		not specified	Uncertain significance (Jan 31, 2023)
11-78038755-C-A		not specified	Uncertain significance (Aug 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCTD14	protein_coding	protein_coding	ENST00000353172	2	30477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00218	0.535	125734	0	11	125745	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0815	155	158	0.982	0.00000945	1662
Missense in Polyphen		59	62.24	0.94795		620
Synonymous	-0.232	68	65.6	1.04	0.00000409	515
Loss of Function	0.208	4	4.48	0.894	1.90e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000543	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.413
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.592
• hipred: N
• hipred_score: 0.256
• ghis: 0.437

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.268

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kctd14

Gene ontology

• Biological process: protein homooligomerization
• Molecular function: protein binding