FREM1 |
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
- 1.16(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
ClinGen Curation ID:
CCID:007163
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)