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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. FBN1, fibrillin 1
Sequence ID:NM_000138
RefSeqGene ID:NG_008805
Entrez Gene ID:2200
Ensembl ID:ENSG00000166147

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, peripheral nervous system, placenta, pooled tissue, prostate, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
ACROMICRIC DYSPLASIA 
ECTOPIA LENTIS, FAMILIAL 
GELEOPHYSIC DYSPLASIA 2 
MARFAN SYNDROME 
MASS SYNDROME 
SHPRINTZEN-GOLDBERG SYNDROMESKI
STIFF SKIN SYNDROME 
WEILL-MARCHESANI SYNDROME 2, DOMINANT 

Cytogenetic Location (from UniGene)

Cytogenetic Location:15q21.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:15: 48702270 - 48760188

 Exon Info From UCSC:
NM_000138

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9056782Full LengthBC146854fibrillin 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000138 NP_000129    

Related Sequences

 
mRNAGenPeptSwissProt
L13923 AAB02036 P35555
BC146854 AAI46855 P35555
AB208840 BAD92077 Q59HB9
AK304737 BAG65498 B4E3I6
X63556 CAA45118 P35555
X62008 CAB56534 Q9NP01

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens FBN1 NP_000129 M.musculus Fbn1 14118 Gene Info NP_032019 96
R.norvegicus Fbn1 83727   NP_114013 96

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)