CT83

cancer/testis antigen 83

Basic information

Region (hg38): X:116461686-116462976

Previous symbols: [ "CXorf61" ]

Links

ENSG00000204019 ∙ NCBI:203413 ∙ OMIM:300625 ∙ HGNC:33494 ∙ Uniprot:Q5H943 ∙ 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 CT83 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CT83 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in CT83

This is a list of pathogenic ClinVar variants found in the CT83 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-116461748-G-A		not specified	Uncertain significance (Jul 14, 2021)
X-116461791-G-C		not specified	Uncertain significance (Feb 10, 2025)
X-116461859-G-A		not specified	Uncertain significance (Oct 06, 2024)
X-116461974-C-A		not specified	Likely benign (Jan 11, 2023)
X-116462831-C-T		not specified	Uncertain significance (Jun 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CT83	protein_coding	protein_coding	ENST00000371894	2	1316

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0837	0.570	125488	1	4	125493	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0132	45	44.8	1.01	0.00000356	727
Missense in Polyphen		7	8.2429	0.84921		166
Synonymous	1.02	12	17.4	0.689	0.00000132	234
Loss of Function	-0.173	1	0.830	1.20	5.22e-8	16

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000361	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000361	0.000272
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0539

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.0566
• hipred: N
• hipred_score: 0.123
• ghis: 0.432

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Gene ontology

• Cellular component: nucleus;plasma membrane;integral component of membrane