KCTD20

potassium channel tetramerization domain containing 20, the group of KCTD family

Basic information

Region (hg38): 6:36442767-36491143

Previous symbols: [ "C6orf69" ]

Links

ENSG00000112078 ∙ NCBI:222658 ∙ OMIM:615932 ∙ HGNC:21052 ∙ Uniprot:Q7Z5Y7 ∙ 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 KCTD20 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCTD20 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173562.5. 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						0
missense			44			44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCTD20	protein_coding	protein_coding	ENST00000373731	7	48377

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000943	0.988	125683	0	64	125747	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	189	241	0.784	0.0000132	2791
Missense in Polyphen		58	90.221	0.64286		1043
Synonymous	0.0262	84	84.3	0.996	0.00000442	786
Loss of Function	2.22	8	18.2	0.439	0.00000102	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000661	0.000661
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000549	0.000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.000549	0.000544
South Asian	0.000229	0.000229
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes the phosphorylation of AKT family members. {ECO:0000250|UniProtKB:Q8CDD8}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.516
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.22

Haploinsufficiency Scores

• pHI: 0.103
• hipred: Y
• hipred_score: 0.654
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.894

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kctd20

Gene ontology

• Biological process: positive regulation of phosphorylation
• Cellular component: cytoplasm