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ZNF711 |
Gene Facts External Data Attribution
- HGNC Symbol
- ZNF711 (HGNC:13128) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- zinc finger protein 711
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ZNF6, MRX65
- Alias symbols
- CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97
- %HI
- 30.43(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.98(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- Xq21.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:84498997-84528363 NCBI Ensembl UCSC GRCh38/hg38: chrX:85243991-85273357 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001330574.2 ENST00000674551.1 (Read more about MANE Select)
- Function
- Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved in neuron development, such as KDM5C (PubMed:20346720, PubMed:31691806). May compete with transcription factor ARX for activation of expression of KDM5C (PubMed:31691806). {ECO:0000269|PubMed:20346720, ECO:0000269|PubMed:31691806}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28450
ClinGen Curation ID:
CCID:008150
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
