CTAGE6

CTAGE family member 6, the group of CTAGE family

Basic information

Region (hg38): 7:143755088-143757696

Previous symbols: [ "CTAGE6P" ]

Links

ENSG00000271321 ∙ NCBI:340307 ∙ ∙ HGNC:28644 ∙ Uniprot:Q86UF2 ∙ 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 CTAGE6 gene.

• Inborn genetic diseases (22 variants)
• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTAGE6 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			14	9	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	9	1

Variants in CTAGE6

This is a list of pathogenic ClinVar variants found in the CTAGE6 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-143755744-A-G		not specified	Likely benign (May 25, 2022)
7-143755801-C-T		not specified	Likely benign (May 11, 2022)
7-143755842-T-C		not specified	Likely benign (May 25, 2022)
7-143755846-A-G		not specified	Likely benign (May 25, 2022)
7-143755911-C-T		not specified	Likely benign (Mar 29, 2022)
7-143755977-G-A		not specified	Uncertain significance (Mar 31, 2022)
7-143756049-A-G		not specified	Uncertain significance (Apr 25, 2022)
7-143756073-C-T		not specified	Uncertain significance (Mar 29, 2022)
7-143756086-G-A		not specified	Uncertain significance (Jul 28, 2021)
7-143756089-C-A			Likely benign (Oct 01, 2023)
7-143756155-T-C		not specified	Uncertain significance (Nov 08, 2022)
7-143756209-C-G		not specified	Uncertain significance (Apr 14, 2022)
7-143756251-G-A		not specified	Uncertain significance (Dec 22, 2023)
7-143756350-C-T		not specified	Uncertain significance (Nov 09, 2023)
7-143756392-G-T		not specified	Likely benign (Aug 30, 2022)
7-143756406-T-C		not specified	Uncertain significance (Aug 30, 2022)
7-143756463-T-C		not specified	Uncertain significance (Aug 30, 2021)
7-143756568-T-G		not specified	Benign (Mar 29, 2016)
7-143756623-C-T		not specified	Uncertain significance (Dec 21, 2023)
7-143756748-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-143756791-C-T		not specified	Likely benign (Oct 22, 2021)
7-143756800-T-C		not specified	Uncertain significance (Jan 09, 2024)
7-143756862-A-G		not specified	Uncertain significance (Dec 20, 2023)
7-143756985-T-C		not specified	Uncertain significance (Jul 20, 2021)
7-143757020-C-G		not specified	Uncertain significance (Jun 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTAGE6	protein_coding	protein_coding	ENST00000470691	1	2608

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.104	92	94.9	0.970	0.00000446	4919
Missense in Polyphen		7	11.953	0.58565		804
Synonymous	0.603	29	33.4	0.867	0.00000155	1455
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.290

Gene Damage Prediction

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

Gene ontology

• Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport;biological_process;protein secretion;vesicle cargo loading;lipoprotein transport
• Cellular component: cellular_component;endoplasmic reticulum membrane;integral component of membrane;endoplasmic reticulum exit site
• Molecular function: lipoprotein transporter activity