CTCF-DT

CTCF divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:67490771-67563958

Links

ENSG00000259804 ∙ NCBI:107984813 ∙ ∙ HGNC:55409 ∙ ∙ ∙ 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 CTCF-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTCF-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						0
Total	0	0	0	0	0

Variants in CTCF-DT

This is a list of pathogenic ClinVar variants found in the CTCF-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
16-67538426-A-T		not specified	Uncertain significance (Jun 08, 2022)
16-67538436-G-A		not specified	Uncertain significance (Aug 27, 2024)
16-67538493-G-C		not specified	Uncertain significance (Jan 03, 2024)
16-67538495-G-A		not specified	Uncertain significance (Jan 18, 2025)
16-67538499-A-G		not specified	Likely benign (Jan 16, 2025)
16-67538528-G-A		not specified	Uncertain significance (Sep 07, 2022)
16-67538532-G-T		not specified	Uncertain significance (Dec 21, 2023)
16-67538541-G-A		not specified	Uncertain significance (Dec 13, 2021)
16-67538677-T-A		not specified	Uncertain significance (Jan 01, 2025)
16-67538691-C-T		not specified	Uncertain significance (Jan 01, 2025)
16-67538701-C-T		not specified	Uncertain significance (Sep 27, 2021)
16-67538716-C-T		not specified	Uncertain significance (Sep 09, 2024)
16-67538738-G-T		not specified	Uncertain significance (Jan 06, 2023)
16-67538746-C-T		not specified	Uncertain significance (Apr 09, 2024)
16-67538760-G-A		not specified	Uncertain significance (Aug 28, 2024)
16-67539017-G-A			Likely benign (Jun 01, 2022)
16-67539025-A-G		not specified	Uncertain significance (Sep 20, 2023)
16-67539867-T-C		not specified	Uncertain significance (Feb 13, 2024)
16-67539874-G-C		not specified	Uncertain significance (Aug 21, 2024)
16-67539889-A-G		not specified	Uncertain significance (Oct 28, 2024)
16-67540089-C-T		not specified	Uncertain significance (Feb 26, 2025)
16-67540096-G-A		not specified	Uncertain significance (Oct 09, 2024)
16-67540120-G-A		not specified	Uncertain significance (Feb 23, 2023)
16-67540141-C-T		not specified	Uncertain significance (Jan 16, 2024)
16-67540150-G-A		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP