This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript vari... See more...

Aliases for FRAS1 Gene

Aliases for FRAS1 Gene

  • Fraser Extracellular Matrix Complex Subunit 1 2 3 5
  • Extracellular Matrix Protein FRAS1 3 4
  • Fraser Syndrome 1 2 3
  • KIAA1500 2 4
  • FLJ22031 2
  • FLJ14927 2
  • FRASRS1 3
  • FRAS1 5

External Ids for FRAS1 Gene

Previous GeneCards Identifiers for FRAS1 Gene

  • GC00U900628
  • GC04P079732
  • GC04P079437
  • GC04P079336
  • GC04P079198
  • GC04P078978
  • GC04P074729

Summaries for FRAS1 Gene

Entrez Gene Summary for FRAS1 Gene

  • This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for FRAS1 Gene

FRAS1 (Fraser Extracellular Matrix Complex Subunit 1) is a Protein Coding gene. Diseases associated with FRAS1 include Fraser Syndrome 1 and Renal Hypodysplasia/Aplasia 3. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM2.

Gene Wiki entry for FRAS1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRAS1 Gene

Genomics for FRAS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRAS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J078055 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 612.9 +0.8 844 4.9 HNRNPL GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 TFE3 SOX13 ZNF692 FRAS1 HSALNG0035388 LOC107986293 ANXA3
GH04J078533 Enhancer 0.9 Ensembl ENCODE dbSUPER 22.6 +476.3 476251 4.7 ZNF184 ESR1 FOXA2 GATA3 SPI1 ATF4 TEAD3 JUND ZBTB40 FRAS1 ANXA3 piR-55655-427 piR-50444-345
GH04J078529 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +472.0 471978 2.6 ATF7 JUND FOXA2 FOS ATF2 FOSL2 FRAS1 ANXA3 piR-50444-345 piR-55655-427
GH04J077816 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 -237.0 -236963 8 CREB1 GATAD2A CTCF ZNF629 REST IKZF1 BACH1 TARDBP JUND FOXA1 CNOT6L HSALNG0035377 lnc-MRPL1-3 RPL7P17 FRAS1 MRPL1
GH04J078426 Enhancer 0.4 ENCODE 24.2 +369.5 369509 1.3 USF2 BHLHE40 HLF RAD51 FRAS1 piR-31292-144 piR-39807-013 ANXA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRAS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRAS1

Top Transcription factor binding sites by QIAGEN in the FRAS1 gene promoter:
  • c-Myb
  • C/EBPalpha
  • Evi-1
  • HFH-1
  • LUN-1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • Pbx1a
  • SREBP-1b

Genomic Locations for FRAS1 Gene

Genomic Locations for FRAS1 Gene
486,947 bases
Plus strand
486,700 bases
Plus strand

Genomic View for FRAS1 Gene

Genes around FRAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRAS1 Gene

Proteins for FRAS1 Gene

  • Protein details for FRAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Extracellular matrix protein FRAS1
    Protein Accession:
    Secondary Accessions:
    • A2RRR8
    • Q86UZ4
    • Q8N3U9
    • Q8NAU7
    • Q96JW7
    • Q9H6N9
    • Q9P228

    Protein attributes for FRAS1 Gene

    4008 amino acids
    Molecular mass:
    443214 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB15216.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FRAS1 Gene


neXtProt entry for FRAS1 Gene

Post-translational modifications for FRAS1 Gene

  • Glycosylation at Asn361, Asn728, Asn1093, Asn1108, Asn1504, Asn1777, Asn1948, Asn1978, Thr2331, Asn2563, Asn2664, Asn2682, Asn2908, Asn2985, Asn3070, Asn3218, Asn3676, and Asn3875
  • Modification sites at PhosphoSitePlus

Other Protein References for FRAS1 Gene

No data available for DME Specific Peptides for FRAS1 Gene

Domains & Families for FRAS1 Gene

Gene Families for FRAS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FRAS1 Gene

  • Furin-like repeat
  • von Willebrand factor, type C

Suggested Antigen Peptide Sequences for FRAS1 Gene

GenScript: Design optimal peptide antigens:
  • FRAS1 protein (A2RRR9_HUMAN)
  • Extracellular matrix protein FRAS1 (FRAS1_HUMAN)
  • FRAS1 protein (Q05CW8_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Belongs to the FRAS1 family.
  • The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.
  • Belongs to the FRAS1 family.
genes like me logo Genes that share domains with FRAS1: view

Function for FRAS1 Gene

Phenotypes From GWAS Catalog for FRAS1 Gene

Gene Ontology (GO) - Molecular Function for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent ISS --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FRAS1: view
genes like me logo Genes that share phenotypes with FRAS1: view

Human Phenotype Ontology for FRAS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FRAS1 Gene

MGI Knock Outs for FRAS1:

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FRAS1 Gene

Localization for FRAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRAS1 Gene

Cell membrane. Single-pass type I membrane protein. Extracellular side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRAS1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 2
cytoskeleton 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA,ISS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0062023 colocalizes_with collagen-containing extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with FRAS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRAS1 Gene

Pathways & Interactions for FRAS1 Gene

PathCards logo

SuperPathways for FRAS1 Gene

SuperPathway Contained pathways
1 Integrin Pathway
2 ERK Signaling
3 Phospholipase-C Pathway
4 ECM-receptor interaction
genes like me logo Genes that share pathways with FRAS1: view

Pathways by source for FRAS1 Gene

1 KEGG pathway for FRAS1 Gene
13 Qiagen pathways for FRAS1 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

Gene Ontology (GO) - Biological Process for FRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IEA --
GO:0003338 metanephros morphogenesis IEA --
GO:0007154 cell communication IEA --
GO:0015031 protein transport IEA --
GO:0030326 embryonic limb morphogenesis IEA --
genes like me logo Genes that share ontologies with FRAS1: view

No data available for SIGNOR curated interactions for FRAS1 Gene

Drugs & Compounds for FRAS1 Gene

(1) Drugs for FRAS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with FRAS1: view

Transcripts for FRAS1 Gene

mRNA/cDNA for FRAS1 Gene

20 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRAS1

Alternative Splicing Database (ASD) splice patterns (SP) for FRAS1 Gene

No ASD Table

Relevant External Links for FRAS1 Gene

GeneLoc Exon Structure for

Expression for FRAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FRAS1 Gene

This gene is overexpressed in Thyroid (x4.4).

Protein differential expression in normal tissues from HIPED for FRAS1 Gene

This gene is overexpressed in Pancreas (27.3) and Amniocyte (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRAS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRAS1

SOURCE GeneReport for Unigene cluster for FRAS1 Gene:


mRNA Expression by UniProt/SwissProt for FRAS1 Gene:

Tissue specificity: Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.

Evidence on tissue expression from TISSUES for FRAS1 Gene

  • Nervous system(4.5)
  • Kidney(2.4)
  • Lung(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FRAS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
  • thymus
  • trachea
  • abdominal wall
  • intestine
  • kidney
  • small intestine
  • anus
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FRAS1: view

No data available for Protein tissue co-expression partners for FRAS1 Gene

Orthologs for FRAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FRAS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FRAS1 30 31
  • 99.3 (n)
(Canis familiaris)
Mammalia FRAS1 30 31
  • 88.97 (n)
(Bos Taurus)
Mammalia FRAS1 31
  • 85 (a)
(Mus musculus)
Mammalia Fras1 30 17 31
  • 84.5 (n)
(Rattus norvegicus)
Mammalia Fras1 30
  • 84.43 (n)
(Monodelphis domestica)
Mammalia FRAS1 31
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia FRAS1 31
  • 63 (a)
(Gallus gallus)
Aves FRAS1 30 31
  • 71.28 (n)
(Anolis carolinensis)
Reptilia FRAS1 31
  • 85 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fras1 30
  • 67.75 (n)
(Danio rerio)
Actinopterygii fras1 30 31
  • 64.55 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
Species where no ortholog for FRAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FRAS1 Gene

Gene Tree for FRAS1 (if available)
Gene Tree for FRAS1 (if available)
Evolutionary constrained regions (ECRs) for FRAS1: view image

Paralogs for FRAS1 Gene

Paralogs for FRAS1 Gene

(3) SIMAP similar genes for FRAS1 Gene using alignment to 10 proteins:

  • H0Y8V2_HUMAN
  • H0Y930_HUMAN
  • H0Y9A6_HUMAN
  • H0Y9C9_HUMAN
  • Q05CW8_HUMAN
  • Q4W596_HUMAN
  • Q6AI26_HUMAN
genes like me logo Genes that share paralogs with FRAS1: view

Variants for FRAS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRAS1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
626320 Pathogenic: Fraser syndrome 1 78,537,165(+) CCAAA/C FRAMESHIFT_VARIANT
635334 Pathogenic: Fraser syndrome 1 78,255,288(+) G/A NONSENSE
649233 Uncertain Significance: not provided 78,375,778(+) G/T MISSENSE_VARIANT
653607 Uncertain Significance: not provided 78,475,499(+) A/C MISSENSE_VARIANT
697424 Conflicting Interpretations: Fraser syndrome 1; not provided 78,489,062(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FRAS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FRAS1 Gene

Variant ID Type Subtype PubMed ID
dgv147n73 CNV deletion 24416366
dgv1503e212 CNV loss 25503493
dgv2831n106 CNV deletion 24896259
dgv9137n54 CNV gain 21841781
dgv95n16 CNV deletion 17901297
esv1262316 CNV insertion 17803354
esv2116983 CNV deletion 18987734
esv2240939 CNV deletion 18987734
esv2446951 CNV deletion 19546169
esv24539 CNV loss 19812545
esv2516235 CNV insertion 19546169
esv26493 CNV loss 19812545
esv2661198 CNV deletion 23128226
esv2666107 CNV deletion 23128226
esv2668338 CNV deletion 23128226
esv2672233 CNV deletion 23128226
esv27121 CNV loss 19812545
esv2727856 CNV deletion 23290073
esv2727857 CNV deletion 23290073
esv2727858 CNV deletion 23290073
esv275267 CNV gain+loss 21479260
esv27534 CNV loss 19812545
esv2763369 CNV loss 21179565
esv28163 CNV loss 19812545
esv3300606 CNV deletion 24192839
esv3302759 CNV tandem duplication 20981092
esv3303746 CNV mobile element insertion 20981092
esv3306571 CNV mobile element insertion 20981092
esv3307499 CNV mobile element insertion 20981092
esv3309054 CNV mobile element insertion 20981092
esv3309187 CNV mobile element insertion 20981092
esv3310280 CNV mobile element insertion 20981092
esv3321859 CNV insertion 20981092
esv3323197 CNV insertion 20981092
esv3331381 CNV insertion 20981092
esv3345270 CNV insertion 20981092
esv3366862 CNV duplication 20981092
esv3373670 CNV insertion 20981092
esv3374917 CNV insertion 20981092
esv3379223 CNV insertion 20981092
esv3387634 CNV insertion 20981092
esv3388559 CNV insertion 20981092
esv3404451 CNV insertion 20981092
esv3421858 CNV insertion 20981092
esv3443485 CNV duplication 20981092
esv3444056 CNV insertion 20981092
esv3444601 CNV insertion 20981092
esv3564119 CNV deletion 23714750
esv3601087 CNV gain 21293372
esv3601088 CNV loss 21293372
esv3601089 CNV loss 21293372
esv3601091 CNV loss 21293372
esv3601092 CNV loss 21293372
esv3601093 CNV loss 21293372
esv3601094 CNV gain 21293372
esv3601096 CNV loss 21293372
esv3601097 CNV gain 21293372
esv3601099 CNV loss 21293372
esv3601101 CNV loss 21293372
esv3601107 CNV loss 21293372
esv3893964 CNV loss 25118596
esv4751 CNV loss 18987735
esv8548 CNV gain 19470904
esv8840 CNV loss 19470904
esv990445 CNV deletion 20482838
nsv1006026 CNV loss 25217958
nsv1009633 CNV gain 25217958
nsv1010714 CNV gain 25217958
nsv1073776 CNV deletion 25765185
nsv1074729 CNV deletion 25765185
nsv1120486 CNV tandem duplication 24896259
nsv1125817 CNV tandem duplication 24896259
nsv1131811 CNV deletion 24896259
nsv1131812 CNV deletion 24896259
nsv1153459 CNV deletion 26484159
nsv290709 CNV deletion 16902084
nsv291328 CNV insertion 16902084
nsv292160 CNV deletion 16902084
nsv4396 CNV deletion 18451855
nsv4399 CNV deletion 18451855
nsv4400 CNV insertion 18451855
nsv499049 CNV loss 21111241
nsv508290 CNV deletion 20534489
nsv513140 CNV loss 21212237
nsv516836 CNV gain 19592680
nsv520625 CNV gain 19592680
nsv524023 CNV loss 19592680
nsv525530 CNV gain 19592680
nsv7363 OTHER inversion 18451855
nsv818246 CNV gain 17921354
nsv819290 CNV loss 19587683
nsv822625 CNV loss 20364138
nsv822626 CNV loss 20364138
nsv829977 CNV loss 17160897
nsv829978 CNV gain 17160897
nsv966288 CNV duplication 23825009
nsv999844 CNV gain 25217958

Variation tolerance for FRAS1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.04; 98.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRAS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRAS1 Gene

Disorders for FRAS1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for FRAS1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fraser syndrome 1
  • frasrs1
renal hypodysplasia/aplasia 3
  • rhda3
diaphragmatic hernia, congenital
  • dih
  • renal hypodysplasia, nonsyndromic, 1
- elite association - COSMIC cancer census association via MalaCards
Search FRAS1 in MalaCards View complete list of genes associated with diseases


  • Fraser syndrome 1 (FRASRS1) [MIM:219000]: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. {ECO:0000269 PubMed:12766769, ECO:0000269 PubMed:23473829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FRAS1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FRAS1: view

No data available for Genatlas for FRAS1 Gene

Publications for FRAS1 Gene

  1. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. (PMID: 12766769) McGregor L … Scambler PJ (Nature genetics 2003) 2 3 4 23
  2. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. (PMID: 23473829) Hoefele J … Rost I (Gene 2013) 3 4
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
  4. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PMID: 19896111) Medland SE … Martin NG (American journal of human genetics 2009) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for FRAS1 Gene

Sources for FRAS1 Gene