CTBP1-DT

CTBP1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 4:1248877-1288856

Previous symbols: [ "C4orf42", "CTBP1-AS1", "CTBP1-AS2" ]

Links

ENSG00000196810 ∙ NCBI:92070 ∙ ∙ HGNC:28307 ∙ ∙ ∙ 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 CTBP1-DT gene.

• not provided (16 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTBP1-DT 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5	11		16
Total	0	0	5	11	0

Variants in CTBP1-DT

This is a list of pathogenic ClinVar variants found in the CTBP1-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
4-1248878-CCGCCCGCGGCCGGAAACGCGCG-C			Likely benign (Nov 27, 2023)
4-1248894-ACGCG-A			Likely benign (May 13, 2022)
4-1248897-C-T			Likely benign (Aug 05, 2022)
4-1248898-G-C			Likely benign (Jan 28, 2022)
4-1248908-G-T			Likely benign (Sep 13, 2022)
4-1248909-G-A			Likely benign (Sep 07, 2022)
4-1248910-C-T			Uncertain significance (Jul 17, 2022)
4-1248912-T-G			Uncertain significance (Dec 02, 2021)
4-1248917-A-C			Uncertain significance (Aug 14, 2023)
4-1248920-C-A			Likely benign (Jun 28, 2022)
4-1248920-C-G			Likely benign (Nov 21, 2023)
4-1248924-A-G			Uncertain significance (Nov 07, 2022)
4-1248925-G-A			Likely benign (Jul 12, 2022)
4-1248932-G-C		Inborn genetic diseases	Uncertain significance (Dec 02, 2022)
4-1248935-G-A			Likely benign (Oct 23, 2023)
4-1248944-C-A			Likely benign (May 29, 2022)
4-1248944-C-T			Likely benign (Feb 23, 2022)
4-1248945-G-C			Likely benign (Aug 15, 2022)
4-1248948-C-G			Uncertain significance (Apr 23, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.128