ZFTA

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

Basic information

Region (hg38): 11:63759892-63768775

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.

not_specified (8 variants)
not_provided (3 variants)

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. These statistics are base on transcript: NM_001144936.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			8 clinvar			8
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	8	3	0

Loading clinvar variants...

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
Phenotype

Gene ontology

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