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HNRNPU |
Gene Facts External Data Attribution
- HGNC Symbol
- HNRNPU (HGNC:5048) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- heterogeneous nuclear ribonucleoprotein U
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201
- Alias symbols
- SAF-A, FLJ37978, FLJ30202
- %HI
- 7.66(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.11(Read more about gnomAD LOEUF score)
- Cytoband
- 1q44
- Genomic Coordinates
-
GRCh37/hg19: chr1:245013599-245027845 NCBI Ensembl UCSC GRCh38/hg38: chr1:244850297-244864543 NCBI Ensembl UCSC - MANE Select Transcript
- NM_031844.3 ENST00000640218.2 (Read more about MANE Select)
- Function
- DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression (PubMed:10490622, PubMed:18082603, PubMed:19029303, PubMed:22325991, PubMed:25986610, PubMed:28622508). Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4055
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
