Zebrafish gene: hnrnpua
Human gene: HNRNPU (heterogeneous nuclear ribonucleoprotein U)
Homology score: 64%
ClinVar variants: 42
Gene description: Predicted to have several functions, including basal RNA polymerase II transcription machinery binding activity; nucleic acid binding activity; and promoter-specific chromatin binding activity. Predicted to be involved in RNA localization to chromatin; regulation of nucleobase-containing compound metabolic process; and regulation of organelle organization. Predicted to colocalize with RNA polymerase II transcription regulator complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 54. Orthologous to human HNRNPU (heterogeneous nuclear ribonucleoprotein U).
ZFIN link: https://zfin.org/ZDB-GENE-030131-3731
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000015206;r=17:11470572-11495466;t=ENSDART00000020598
Zebrafish reference(s): n/a
This gene has 1 transcript (slice variant).
WT DNA sequence (mutation area: exon 1)
Mutant DNA sequence (mutation area: 5 bp deletion in exon 1)
Guide RNA target sites: taatacgactcactataGGGGACGGAGGAGACCCCGCgttttagagctagaa
Primers:
Forward primer: CTCTCTGGTACTAACGGCTC
Reverse primer: CCTCATCGAATTTCTCCATCTC
WT Protein sequence
N = 87
