ZFTA

zinc finger translocation associated, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 11:63759891-63768775

Previous symbols: [ "C11orf95" ]

Links

ENSG00000188070 ∙ NCBI:65998 ∙ OMIM:615699 ∙ HGNC:28449 ∙ Uniprot:C9JLR9 ∙ 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 ZFTA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFTA 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				2		2
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in ZFTA

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

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

Position	Type	Phenotype	Significance	ClinVar
11-63764292-C-T		not specified	Uncertain significance (Nov 08, 2021)
11-63764871-G-T		not specified	Uncertain significance (Jun 25, 2021)
11-63764893-C-T			Likely benign (Jan 01, 2023)
11-63764897-G-C		not specified	Uncertain significance (Sep 17, 2021)
11-63764934-T-G		not specified	Uncertain significance (Jul 15, 2021)
11-63765131-C-T		not specified	Uncertain significance (Aug 02, 2021)
11-63765152-C-T		not specified	Uncertain significance (Aug 17, 2021)
11-63768530-C-T			Likely benign (Jan 01, 2023)
11-63768573-C-T		not specified	Uncertain significance (Sep 17, 2021)
11-63768606-T-G		not specified	Uncertain significance (Aug 23, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Disease: DISEASE: Note=A chromosomal aberration involving MRTFB is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with MRTFB produces a C11orf95-MRTFB fusion protein (PubMed:20607705). {ECO:0000269|PubMed:20607705}.; DISEASE: Note=A chromosomal aberration involving RELA is found in more than two-thirds of supratentorial ependymomas. Translocation with RELA produces a C11orf95-RELA fusion protein. C11orf95-RELA translocations are potent oncogenes that probably transform neural stem cells by driving an aberrant NF-kappa-B transcription program (PubMed:24553141). {ECO:0000269|PubMed:24553141}.

Mouse Genome Informatics

• Gene name: 2700081O15Rik

Gene ontology

• Biological process: negative regulation of transcription, DNA-templated
• Molecular function: nucleic acid binding