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
354861942022Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.2
355261552022Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.9
358812702022Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.2
354861942022Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.2
355261552022Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.9
358812702022Novel pathogenic splicing variants in helicase for meiosis 1 (HFM1) are associated with diminished ovarian reserve and poor pregnancy outcomes.2
344291222021Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.11
344291222021Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.11
312793432019A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.18
312793432019A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.18
266796382016Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.15
266796382016Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.15
245978732014Mutations in HFM1 in recessive primary ovarian insufficiency.59
245978732014Mutations in HFM1 in recessive primary ovarian insufficiency.59
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

HFM1 (helicase for meiosis 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64250/img/humanGenome