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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186483272008Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.4
268309322016A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.4

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