KCNK4-CATSPERZ

ncRNA

KCNK4-CATSPERZ readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring KCNK4 (potassium channel subfamily K member 4) and the downstream TEX40 (testis expressed 40) chromosome 11. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Nov 2015]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1

Top phenotype

Abnormal facial shape;Generalized hypertrichosis;Intellectual disability;Gingival overgrowth;Seizure

Max pathogenic AF

—

Genomic locus

chr11:64,291,722-64,304,769

External References & Databases

Ensembl (ENSG00000257069)

NCBI Gene (106780802)

HGNC:56753

GenCC

ClinVar (KCNK4-CATSPERZ)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KCNK4-CATSPERZ variants in ClinVar

3 Conditions Cataloged

not providedTotal: 2

Abnormal facial shape;Generalized hypertrichosis;Intellectual disability;Gingival overgrowth;SeizureTotal: 1

Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	1	0	0	1

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.