FREM1 Chromosome 9
FRAS1 related extracellular matrix 1
Upload your DNA to see your personal genotypes for variants in FREM1.
What This Gene Does
This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
C-type lectin domain containing
Locus Type
gene with protein product
Location
9p22.3
Ensembl
ENSG00000164946
Associated Conditions (19)
FREM1-related disorder
Oculotrichoanal syndrome
Inborn genetic diseases
Sarcoma
BNAR syndrome
Trigonocephaly 2
Rieger anomaly
Irido-corneo-trabecular dysgenesis
Thymoma
Congenital diaphragmatic hernia
Lung cancer
Familial pancreatic carcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Key Variants
RS113555227
Conflicting classifications of pathogenicity
FREM1-related disorder, FREM1-related disorder
Health Risk
RS1211739234
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, Oculotrichoanal syndrome
Health Risk
RS1279639790
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140222993
Conflicting classifications of pathogenicity
FREM1-related disorder, Inborn genetic diseases, FREM1-related disorder
Health Risk
RS143844459
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, FREM1-related disorder, Oculotrichoanal syndrome
Health Risk
RS145871721
Conflicting classifications of pathogenicity
Sarcoma, Sarcoma
Health Risk
RS148735553
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, Oculotrichoanal syndrome
Health Risk
RS180917208
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, FREM1-related disorder, Oculotrichoanal syndrome
Health Risk
RS181859461
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, FREM1-related disorder, Oculotrichoanal syndrome
Health Risk
RS182527895
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, Inborn genetic diseases, Oculotrichoanal syndrome
Health Risk
RS182946445
Conflicting classifications of pathogenicity
Oculotrichoanal syndrome, FREM1-related disorder, BNAR syndrome
Health Risk
RS184394424
Conflicting classifications of pathogenicity
Trigonocephaly 2, Rieger anomaly, Irido-corneo-trabecular dysgenesis
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS41298151 | Health Risk | Conflicting classifications of pathogenicity | Congenital diaphragmatic hernia, Oculotrichoanal syndrome, Lung cancer |
| RS528445853 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS544905717 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS544959201 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Oculotrichoanal syndrome, Trigonocephaly 2 |
| RS550726565 | Health Risk | Conflicting classifications of pathogenicity | FREM1-related disorder, Inborn genetic diseases, FREM1-related disorder |
| RS551754962 | Health Risk | Conflicting classifications of pathogenicity | FREM1-related disorder, FREM1-related disorder |
| RS561131255 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Trigonocephaly 2, BNAR syndrome |
| RS564039071 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, BNAR syndrome, Trigonocephaly 2 |
| RS61744094 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61745612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745782166 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Trigonocephaly 2, BNAR syndrome |
| RS748464182 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FREM1-related disorder, Inborn genetic diseases |
| RS750374714 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS756646275 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS756654353 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS761999855 | Health Risk | Conflicting classifications of pathogenicity | BNAR syndrome, Trigonocephaly 2, Oculotrichoanal syndrome |
| RS766485109 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, BNAR syndrome, Trigonocephaly 2 |
| RS76714828 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772475006 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS773920119 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS775399423 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, BNAR syndrome, Trigonocephaly 2 |
| RS775792241 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Trigonocephaly 2, BNAR syndrome |
| RS778272482 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BNAR syndrome, Oculotrichoanal syndrome |
| RS778288375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BNAR syndrome, Oculotrichoanal syndrome |
| RS781342502 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS781396064 | Health Risk | Conflicting classifications of pathogenicity | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS1064797351 | Health Risk | Likely pathogenic | BNAR syndrome, Trigonocephaly 2, Oculotrichoanal syndrome |
| RS1187630820 | Health Risk | Likely pathogenic | — |
| RS1188199694 | Health Risk | Likely pathogenic | — |
| RS1244506651 | Health Risk | Likely pathogenic | — |
| RS1380643285 | Health Risk | Likely pathogenic | Oculotrichoanal syndrome, BNAR syndrome, Trigonocephaly 2 |
| RS1381393162 | Health Risk | Likely pathogenic | — |
| RS200778244 | Health Risk | Likely pathogenic | Oculotrichoanal syndrome, BNAR syndrome, Trigonocephaly 2 |
| RS2132498352 | Health Risk | Likely pathogenic | — |
| RS2133202137 | Health Risk | Likely pathogenic | — |
| RS2133577966 | Health Risk | Likely pathogenic | — |
| RS2537536904 | Health Risk | Likely pathogenic | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS2538012142 | Health Risk | Likely pathogenic | — |
| RS2539237550 | Health Risk | Likely pathogenic | — |
| RS2539492420 | Health Risk | Likely pathogenic | FREM1-related disorder, BNAR syndrome, Oculotrichoanal syndrome |
| RS281875281 | Health Risk | Likely pathogenic | Oculotrichoanal syndrome, Oculotrichoanal syndrome |
| RS774044026 | Health Risk | Likely pathogenic | — |
| RS1131691724 | Health Risk | Pathogenic | — |
| RS1464587064 | Health Risk | Pathogenic | BNAR syndrome, BNAR syndrome |
| RS1563921179 | Health Risk | Pathogenic | — |
| RS1588131370 | Health Risk | Pathogenic | BNAR syndrome, Oculotrichoanal syndrome, BNAR syndrome |
| RS1818090088 | Health Risk | Pathogenic | — |
| RS1842448817 | Health Risk | Pathogenic | — |
| RS2132858731 | Health Risk | Pathogenic | — |
| RS2132864714 | Health Risk | Pathogenic | — |