Gene Facts External Data Attribution

HGNC Symbol
FREM1 (HGNC:23399) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FRAS1 related extracellular matrix 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C9orf154
Alias symbols
FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR
%HI
26.81(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.12(Read more about gnomAD LOEUF score)
Cytoband
9p22.3
Genomic Coordinates
GRCh37/hg19: chr9:14737150-14910993 NCBI Ensembl UCSC
GRCh38/hg38: chr9:14737152-14910995 NCBI Ensembl UCSC
MANE Select Transcript
NM_001379081.2 ENST00000380880.4 (Read more about MANE Select)
Function
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23907
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)