CTAGE9

CTAGE family member 9, the group of CTAGE family

Basic information

Region (hg38): 6:131708441-131711017

Links

ENSG00000236761 ∙ NCBI:643854 ∙ ∙ HGNC:37275 ∙ Uniprot:A4FU28 ∙ 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 CTAGE9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTAGE9 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			74			74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	74	0	0

Variants in CTAGE9

This is a list of pathogenic ClinVar variants found in the CTAGE9 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-131708718-G-A		not specified	Uncertain significance (Nov 15, 2024)
6-131708724-A-G		not specified	Uncertain significance (Aug 30, 2022)
6-131708762-C-T		not specified	Uncertain significance (Oct 04, 2022)
6-131708775-G-A		not specified	Uncertain significance (Jul 17, 2023)
6-131708778-T-G		not specified	Uncertain significance (Mar 14, 2023)
6-131708787-C-T		not specified	Uncertain significance (Dec 30, 2023)
6-131708800-T-C		not specified	Uncertain significance (Nov 12, 2021)
6-131708817-C-T		not specified	Uncertain significance (Feb 08, 2025)
6-131708866-C-G		not specified	Uncertain significance (Dec 11, 2023)
6-131708878-A-G		not specified	Uncertain significance (May 16, 2024)
6-131708895-A-T		not specified	Uncertain significance (Aug 21, 2024)
6-131708908-G-T		not specified	Uncertain significance (Nov 29, 2021)
6-131708917-T-C		not specified	Uncertain significance (Aug 20, 2024)
6-131708934-G-A		not specified	Uncertain significance (Jan 22, 2025)
6-131709035-C-T		not specified	Uncertain significance (Dec 09, 2023)
6-131709045-G-A		not specified	Uncertain significance (Aug 20, 2024)
6-131709072-G-T		not specified	Uncertain significance (Dec 19, 2022)
6-131709103-G-A		not specified	Uncertain significance (Nov 22, 2023)
6-131709256-G-A		not specified	Uncertain significance (Apr 26, 2023)
6-131709296-A-C		not specified	Uncertain significance (Jul 22, 2022)
6-131709330-C-A		not specified	Uncertain significance (Aug 04, 2021)
6-131709345-C-T		not specified	Uncertain significance (Oct 17, 2023)
6-131709354-C-A		not specified	Uncertain significance (Jan 22, 2024)
6-131709366-G-A		not specified	Uncertain significance (Feb 27, 2024)
6-131709367-G-T		not specified	Uncertain significance (Sep 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTAGE9	protein_coding	protein_coding	ENST00000314099	1	2626

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	-0.217	266	256	1.04	0.0000123	5034
Missense in Polyphen		32	41.35	0.77389		1020
Synonymous	-0.404	99	94.0	1.05	0.00000477	1485
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

• ghis: 0.406

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

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