HFM1 (helicase for meiosis 1)

2014-11-01  

Identity

HGNC
HFM1
LOCATION
1p22.2
LOCUSID
164045
ALIAS
MER3,POF9,SEC63D1,Si-11,Si-11-6,helicase
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 164045
MIM: 615684
HGNC: 20193
Ensembl: ENSG00000162669

Variants:

dbSNP: 164045
ClinVar: 164045
TCGA: ENSG00000162669
COSMIC: HFM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162669ENST00000370425A2PYH4
ENSG00000162669ENST00000427444C9JQ07
ENSG00000162669ENST00000430465H0Y3X7
ENSG00000162669ENST00000448819C9JA44
ENSG00000162669ENST00000455133C9JQP7

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
245978732014Mutations in HFM1 in recessive primary ovarian insufficiency.23
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
172860532006HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.10
266796382016Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.4
312793432019A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.2

Citation

Dessen P

HFM1 (helicase for meiosis 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64250/hfm1