Zebrafish gene: sik1
Human gene: SIK1B (salt inducible kinase 1B (putative)
Homology score: 66%
ClinVar variants: 5
Gene description: Predicted to have protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction and protein phosphorylation. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 30. Orthologous to several human genes including SIK1B (salt inducible kinase 1B (putative)).
ZFIN link: https://zfin.org/ZDB-GENE-030131-9446
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000058606;r=9:9112943-9122055;t=ENSDART00000083033
Zebrafish reference(s): n/a
This gene has 4 transcripts (splice variants).
WT DNA sequence (mutation area: exon 11)
Mutant DNA sequence (mutation area: 19 bp deletion in exon 11)
Guide RNA target sites: taatacgactcactataGGGGTGCTTGGCAGATGGGGgttttagagctagaa
Primers:
Forward primer: AGCCTGAATGGACTCCTGTG
Reverse primer: CAGACAGCTGTCAGAAGATGC
WT Protein sequence
N = 77
