C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: fibrillin 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000166147 FBN1 9606 - 15:48408306-48645849 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000316623 FBN1-001 48408306-48645849 protein_coding
  ENST00000537463 FBN1-003 48430764-48645709 nonsense_mediated_decay
  ENST00000558230 FBN1-006 48642847-48644832 processed_transcript
  ENST00000559133 FBN1-004 48410074-48467991 nonsense_mediated_decay
  ENST00000560355 FBN1-002 48640989-48645721 protein_coding
  ENST00000560720 FBN1-008 48427944-48432891 retained_intron
  ENST00000560820 FBN1-007 48437622-48445412 retained_intron
  ENST00000561429 FBN1-009 48411201-48416716 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000316623ENST00000537463ENST00000559133
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000316623 4.087±0.00 2.604±0.00 0.348±0.06 10.446±2.84 5.111±0.81 1.985±0.00 1.726±0.22 13.940±13.56 3.194±0.00 1.247±0.00 5.079±2.31 27.678±17.66 8.656±0.00
ENST00000537463 N/A N/A N/A N/A N/A N/A N/A 12.443±0.00 N/A N/A N/A N/A N/A
ENST00000559133 19.095±0.00 7.760±0.00 1.139±0.55 26.361±15.25 13.936±7.85 7.966±0.00 5.887±0.00 1.396±0.00 11.678±0.00 2.730±0.82 12.099±5.28 108.017±76.31 17.547±8.67

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008GC CIL_0008GC_0001 VISTA 15:48330070-48933845
CIL_0004NG CIL_0004NG_0001 CGP 15:48331011-48645849

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001501 IMP skeletal system development
GO:0001527 IDA microfibril
GO:0001656 IEA metanephros development
GO:0001822 IEA kidney development
GO:0005201 IDA:IEA extracellular matrix structural constituent
GO:0005509 IEA:IDA calcium ion binding
GO:0005515 IPI:IEA protein binding
GO:0005576 TAS extracellular region
GO:0005578 IEA:IDA proteinaceous extracellular matrix
GO:0005604 IDA basement membrane
GO:0005615 IDA extracellular space
GO:0007507 IMP heart development
GO:0022617 TAS extracellular matrix disassembly
GO:0030198 TAS extracellular matrix organization
GO:0031012 IDA extracellular matrix
GO:0035582 ISS sequestering of BMP in extracellular matrix
GO:0035583 ISS sequestering of TGFbeta in extracellular matrix
GO:0070062 IDA extracellular vesicular exosome
GO:0071560 IEA cellular response to transforming growth factor beta stimulus

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSMUSG00000027204 Fbn1 fibrillin 1 protein_coding Mus_musculus

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