FREM3

FRAS1 related extracellular matrix 3

Basic information

Region (hg38): 4:143577302-143700675

Links

ENSG00000183090NCBI:166752OMIM:608946HGNC:25172Uniprot:P0C091AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FREM3 gene.

  • not_specified (303 variants)
  • not_provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FREM3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001168235.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
7
clinvar
1
clinvar
8
missense
285
clinvar
18
clinvar
1
clinvar
304
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 286 25 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FREM3protein_codingprotein_codingENST00000329798 8123374
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.52e-190.87500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.978431.12e+30.7510.000056513988
Missense in Polyphen156241.060.647143203
Synonymous4.423354550.7360.00002404404
Loss of Function2.313958.00.6720.00000298707

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Extracellular matrix protein which may play a role in cell adhesion. {ECO:0000250}.;

Recessive Scores

pRec
0.0987

Intolerance Scores

loftool
rvis_EVS
4.07
rvis_percentile_EVS
99.68

Haploinsufficiency Scores

pHI
0.144
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.103

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Frem3
Phenotype

Gene ontology

Biological process
cell communication;cell adhesion
Cellular component
basement membrane;extracellular space;integral component of membrane;collagen-containing extracellular matrix
Molecular function
metal ion binding