• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HFM1 (HGNC:20193) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
helicase for meiosis 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SEC63D1
Alias symbols
MER3, FLJ39011, FLJ36760
%HI
42.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.93(Read more about gnomAD LOEUF score)
Cytoband
1p22.2
Genomic Coordinates
GRCh37/hg19: chr1:91726323-91870394 NCBI Ensembl UCSC
GRCh38/hg38: chr1:91260766-91408007 NCBI Ensembl UCSC
MANE Select Transcript
NM_001017975.6 ENST00000370425.8 (Read more about MANE Select)
Function
Required for crossover formation and complete synapsis of homologous chromosomes during meiosis. {ECO:0000250|UniProtKB:D3Z4R1}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35958
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)