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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: neurofibromatosis 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000020716 Nf1 10090 + 11:79339693-79581612 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000071325 Nf1-001 79339825-79581612 protein_coding
  ENSMUST00000108251 Nf1-003 79339792-79578942 protein_coding
  ENSMUST00000122917 Nf1-002 79448153-79473412 processed_transcript
  ENSMUST00000130979 Nf1-008 79448153-79473412 processed_transcript
  ENSMUST00000131800 Nf1-004 79339887-79430788 retained_intron
  ENSMUST00000137997 Nf1-006 79546308-79580048 protein_coding
  ENSMUST00000145839 Nf1-005 79339693-79345186 processed_transcript
  ENSMUST00000146699 Nf1-007 79536908-79570115 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000071325ENSMUST00000108251ENSMUST00000137997ENSMUST00000145839
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000071325 3.265±1.44 4.576±2.23 3.893±0.58 8.870±1.09 3.796±1.38 3.403±1.68 1.276±0.72 2.545±0.50 0.994±0.45 4.996±1.99 0.191±0.00 3.536±2.11 1.031±0.12 4.987±1.74
ENSMUST00000108251 N/A 2.053±0.16 N/A N/A 0.897±0.00 2.042±0.00 0.396±0.00 N/A N/A 2.061±0.00 N/A 2.812±1.39 0.206±0.00 3.156±0.38
ENSMUST00000137997 4.959±0.72 N/A 4.991±0.38 8.692±1.75 2.203±0.06 1.399±0.00 1.761±0.18 1.763±0.39 1.202±0.45 4.099±0.89 0.784±0.14 3.565±0.89 0.697±0.43 4.279±1.56
ENSMUST00000145839 N/A 2.823±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007SM CIL_0007SM_0002 VISTA 11:78750979-79355443
CIL_0004GN CIL_0004GN_0003 CGP 11:79339693-79581612

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000165 IMP MAPK cascade
GO:0001649 IMP osteoblast differentiation
GO:0001656 IMP metanephros development
GO:0001666 IMP response to hypoxia
GO:0001889 IMP liver development
GO:0001937 IMP negative regulation of endothelial cell proliferation
GO:0001938 IGI positive regulation of endothelial cell proliferation
GO:0001952 IMP regulation of cell-matrix adhesion
GO:0001953 IGI negative regulation of cell-matrix adhesion
GO:0005096 IMP GTPase activator activity
GO:0005099 IBA Ras GTPase activator activity
GO:0005515 IPI protein binding
GO:0005634 IEA nucleus
GO:0005737 IDA cytoplasm
GO:0006469 IMP negative regulation of protein kinase activity
GO:0007154 IMP cell communication
GO:0007265 IMP Ras protein signal transduction
GO:0007406 IMP negative regulation of neuroblast proliferation
GO:0007420 IMP brain development
GO:0007422 IMP peripheral nervous system development
GO:0007507 IMP heart development
GO:0007519 IMP skeletal muscle tissue development
GO:0008285 IMP negative regulation of cell proliferation
GO:0008429 ISS phosphatidylethanolamine binding
GO:0008542 IMP visual learning
GO:0008625 IGI extrinsic apoptotic signaling pathway via death domain receptors
GO:0014044 IMP Schwann cell development
GO:0014065 IMP phosphatidylinositol 3-kinase signaling
GO:0016020 IEA membrane
GO:0016525 IGI negative regulation of angiogenesis
GO:0021510 IMP spinal cord development
GO:0021897 IMP forebrain astrocyte development
GO:0021915 IGI neural tube development
GO:0021987 IMP cerebral cortex development
GO:0022011 IMP myelination in peripheral nervous system
GO:0030036 IGI actin cytoskeleton organization
GO:0030198 IMP extracellular matrix organization
GO:0030199 IMP collagen fibril organization
GO:0030325 IMP adrenal gland development
GO:0030336 IGI negative regulation of cell migration
GO:0030424 IEA axon
GO:0030425 IEA dendrite
GO:0031210 ISS phosphatidylcholine binding
GO:0031235 IBA intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032228 IGI regulation of synaptic transmission, GABAergic
GO:0032320 IMP positive regulation of Ras GTPase activity
GO:0035021 IGI negative regulation of Rac protein signal transduction
GO:0042060 IMP wound healing
GO:0042127 IGI regulation of cell proliferation
GO:0042992 IMP negative regulation of transcription factor import into nucleus
GO:0043065 IGI positive regulation of apoptotic process
GO:0043407 IGI negative regulation of MAP kinase activity
GO:0043409 IMP negative regulation of MAPK cascade
GO:0043473 IMP pigmentation
GO:0043525 IGI positive regulation of neuron apoptotic process
GO:0043535 IEA regulation of blood vessel endothelial cell migration
GO:0045124 IMP regulation of bone resorption
GO:0045671 IGI negative regulation of osteoclast differentiation
GO:0045685 IMP regulation of glial cell differentiation
GO:0045762 IMP positive regulation of adenylate cyclase activity
GO:0045765 IMP regulation of angiogenesis
GO:0046580 IMP negative regulation of Ras protein signal transduction
GO:0046929 IGI negative regulation of neurotransmitter secretion
GO:0048147 IMP negative regulation of fibroblast proliferation
GO:0048169 IGI regulation of long-term neuronal synaptic plasticity
GO:0048485 IMP sympathetic nervous system development
GO:0048593 IMP camera-type eye morphogenesis
GO:0048712 IMP negative regulation of astrocyte differentiation
GO:0048715 IMP negative regulation of oligodendrocyte differentiation
GO:0048745 IMP smooth muscle tissue development
GO:0048844 IMP artery morphogenesis
GO:0048853 IMP forebrain morphogenesis
GO:0050890 IEA cognition
GO:1902043 IMP positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241 IMP positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000004184 nf1b neurofibromin 1b protein_coding Danio_rerio
ENSG00000196712 NF1 neurofibromin 1 protein_coding Homo_sapiens

Loading