GAGE12H

G antigen 12H, the group of GAGE family

Basic information

Region (hg38): X:49579949-49587301

Links

ENSG00000224902 ∙ NCBI:729442 ∙ OMIM:300732 ∙ HGNC:31908 ∙ Uniprot:A6NDE8 ∙ 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 GAGE12H gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAGE12H 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			26	3		29
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	28	3	0

Variants in GAGE12H

This is a list of pathogenic ClinVar variants found in the GAGE12H region.

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

Position	Type	Phenotype	Significance	ClinVar
X-49581122-T-C		not specified	Uncertain significance (Aug 04, 2023)
X-49581122-T-G		not specified	Uncertain significance (Aug 02, 2022)
X-49581123-C-T		not specified	Uncertain significance (May 20, 2024)
X-49581125-A-T		not specified	Uncertain significance (Dec 27, 2022)
X-49581131-T-A		not specified	Uncertain significance (Jan 26, 2025)
X-49581132-A-G		not specified	Uncertain significance (Feb 26, 2025)
X-49581135-G-A		not specified	Uncertain significance (Jul 14, 2022)
X-49581137-C-A		not specified	Uncertain significance (Jan 10, 2025)
X-49581137-C-T		not specified	Uncertain significance (Dec 14, 2024)
X-49581138-C-G		not specified	Likely benign (Jan 06, 2023)
X-49581147-G-C		not specified	Uncertain significance (Jun 29, 2023)
X-49581149-C-T		not specified	Uncertain significance (Jan 23, 2024)
X-49581150-G-A		not specified	Uncertain significance (Feb 13, 2024)
X-49581155-G-T		not specified	Uncertain significance (Jan 17, 2023)
X-49581156-T-A		not specified	Uncertain significance (Jun 02, 2024)
X-49581179-C-A		not specified	Uncertain significance (Jul 14, 2024)
X-49581667-T-G		not specified	Uncertain significance (Oct 10, 2023)
X-49581687-C-T		not specified	Uncertain significance (Aug 12, 2022)
X-49581695-G-A		not specified	Uncertain significance (Dec 17, 2024)
X-49581708-C-G		not specified	Uncertain significance (Dec 21, 2023)
X-49581716-T-C		not specified	Uncertain significance (Jan 26, 2022)
X-49581716-T-T		not specified	Uncertain significance (May 30, 2024)
X-49581726-C-A		not specified	Uncertain significance (Aug 12, 2024)
X-49581743-G-C		not specified	Uncertain significance (Dec 26, 2023)
X-49581749-G-T		not specified	Uncertain significance (Dec 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GAGE12H	protein_coding	protein_coding	ENST00000381722	4	7319

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.345	0.496	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.05	20	5.93	3.37	3.76e-7	742
Missense in Polyphen		7	2.1952	3.1888		259
Synonymous	0.0476	2	2.09	0.958	1.33e-7	203
Loss of Function	0.706	0	0.581	0.00	3.69e-8	77

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00000199