HYLS1 (HYLS1 centriolar and ciliogenesis associated)

2014-11-01  

Identity

HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
HLS

Other Information

Locus ID:

NCBI: 219844
MIM: 610693
HGNC: 26558
Ensembl: ENSG00000198331

Variants:

dbSNP: 219844
ClinVar: 219844
TCGA: ENSG00000198331
COSMIC: HYLS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198331ENST00000356438Q96M11
ENSG00000198331ENST00000356438A0A024R3K0
ENSG00000198331ENST00000425380Q96M11
ENSG00000198331ENST00000425380A0A024R3K0
ENSG00000198331ENST00000526028Q96M11
ENSG00000198331ENST00000526028A0A024R3K0

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
342123692021The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.0
342123692021The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.0
268309322016A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.9
268309322016A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
186483272008Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.8
186483272008Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.8

Citation

Dessen P

HYLS1 (HYLS1 centriolar and ciliogenesis associated)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64480/hyls1-(hyls1-centriolar-and-ciliogenesis-associated)