ZFTA
protein-codingzinc finger translocation associated, the group of Zinc fingers C2H2-type
Gene summary
Predicted to be involved in negative regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]
- C11orf95
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ZFTA variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001144936.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 9 | 9 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 10 | 3 | 0 | 13 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001138408.1 | 5 | MANE Select | |
| Ensembl | ENSP00000482180.1 | 5 | MANE Select | |
| Ensembl | ENSP00000483097.1 | 2 | Standard | |
| Ensembl | ENSP00000478462.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of transcription, DNA-templated
Molecular Function
- nucleic acid binding
dbNSFP Gene Annotations
Source:
- 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}.;