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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: neurofibromin 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000196712 NF1 9606 + 17:31094927-31382116 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000356175 NF1-002 31094927-31377677 protein_coding
  ENST00000358273 NF1-001 31094927-31377677 protein_coding
  ENST00000422121 NF1-020 31378891-31382106 nonsense_mediated_decay
  ENST00000431387 NF1-010 31094977-31222764 protein_coding
  ENST00000456735 NF1-003 31200536-31374433 protein_coding
  ENST00000466819 NF1-007 31233030-31261794 nonsense_mediated_decay
  ENST00000468273 NF1-013 31358548-31360956 protein_coding
  ENST00000471572 NF1-014 31337817-31381887 nonsense_mediated_decay
  ENST00000479536 NF1-012 31330329-31336873 nonsense_mediated_decay
  ENST00000479614 NF1-008 31233030-31261794 nonsense_mediated_decay
  ENST00000487476 NF1-004 31094927-31219359 retained_intron
  ENST00000488981 NF1-022 31380141-31382116 processed_transcript
  ENST00000489712 NF1-023 31128458-31169964 protein_coding
  ENST00000490416 NF1-011 31159065-31183027 retained_intron
  ENST00000493220 NF1-005 31225083-31331904 retained_intron
  ENST00000495910 NF1-006 31156041-31254292 nonsense_mediated_decay
  ENST00000498569 NF1-021 31378648-31382116 processed_transcript
  ENST00000577967 NF1-016 31355804-31361602 retained_intron
  ENST00000579081 NF1-009 31095208-31374287 nonsense_mediated_decay
  ENST00000581113 NF1-017 31318413-31336473 processed_transcript
  ENST00000581790 NF1-015 31337817-31360597 nonsense_mediated_decay
  ENST00000582892 NF1-019 31340280-31349150 retained_intron
  ENST00000584328 NF1-018 31337763-31343098 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000356175ENST00000358273ENST00000456735ENST00000495910ENST00000579081
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000356175 1.340±0.00 N/A N/A 5.811±0.35 N/A 1.371±0.00 N/A N/A 0.630±0.00 2.346±0.00 N/A 1.076±0.00 1.176±0.00 2.147±0.00
ENST00000358273 2.277±0.00 3.127±0.00 2.670±0.00 N/A 3.536±0.00 2.030±0.80 1.957±0.00 3.357±1.13 4.292±0.00 2.998±1.23 N/A 3.000±2.13 1.706±0.12 2.575±0.00
ENST00000456735 N/A N/A 2.114±0.00 5.367±0.00 2.257±0.00 2.331±0.00 2.885±0.00 N/A 5.015±0.00 2.832±0.00 1.252±0.38 3.944±0.00 N/A 3.387±0.00
ENST00000495910 N/A N/A N/A N/A 2.418±0.00 2.254±0.00 N/A N/A N/A N/A N/A 3.530±0.00 N/A N/A
ENST00000579081 N/A N/A N/A N/A N/A 2.403±0.00 N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0004GN CIL_0004GN_0002 CGP 17:31094927-31382116

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000165 ISS MAPK cascade
GO:0001649 ISS osteoblast differentiation
GO:0001656 ISS metanephros development
GO:0001666 ISS response to hypoxia
GO:0001889 ISS liver development
GO:0001937 IMP negative regulation of endothelial cell proliferation
GO:0001938 IEA positive regulation of endothelial cell proliferation
GO:0001952 ISS regulation of cell-matrix adhesion
GO:0001953 IEA negative regulation of cell-matrix adhesion
GO:0005096 IEA GTPase activator activity
GO:0005099 IDA Ras GTPase activator activity
GO:0005488 IEA binding
GO:0005515 IPI protein binding
GO:0005622 IEA intracellular
GO:0005634 ISS nucleus
GO:0005737 IBA cytoplasm
GO:0006469 ISS negative regulation of protein kinase activity
GO:0007154 ISS cell communication
GO:0007165 IEA signal transduction
GO:0007265 ISS Ras protein signal transduction
GO:0007406 ISS negative regulation of neuroblast proliferation
GO:0007420 ISS brain development
GO:0007422 ISS peripheral nervous system development
GO:0007507 ISS heart development
GO:0007519 IEA skeletal muscle tissue development
GO:0008285 IEA negative regulation of cell proliferation
GO:0008429 IDA phosphatidylethanolamine binding
GO:0008542 ISS visual learning
GO:0008625 IEA extrinsic apoptotic signaling pathway via death domain receptors
GO:0014044 ISS Schwann cell development
GO:0014065 ISS phosphatidylinositol 3-kinase signaling
GO:0016020 IDA membrane
GO:0016525 IEA negative regulation of angiogenesis
GO:0021510 ISS spinal cord development
GO:0021897 ISS forebrain astrocyte development
GO:0021915 IEA neural tube development
GO:0021987 ISS cerebral cortex development
GO:0022011 ISS myelination in peripheral nervous system
GO:0030036 ISS actin cytoskeleton organization
GO:0030198 ISS extracellular matrix organization
GO:0030199 ISS collagen fibril organization
GO:0030325 ISS adrenal gland development
GO:0030336 IMP negative regulation of cell migration
GO:0030424 IDA axon
GO:0030425 IDA dendrite
GO:0031210 IDA phosphatidylcholine binding
GO:0031235 IBA intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032228 IEA regulation of synaptic transmission, GABAergic
GO:0032318 IMP:IEA regulation of Ras GTPase activity
GO:0032320 ISS positive regulation of Ras GTPase activity
GO:0035021 IEA negative regulation of Rac protein signal transduction
GO:0042060 ISS wound healing
GO:0042127 IEA regulation of cell proliferation
GO:0042992 ISS negative regulation of transcription factor import into nucleus
GO:0043065 ISS positive regulation of apoptotic process
GO:0043407 ISS negative regulation of MAP kinase activity
GO:0043409 ISS negative regulation of MAPK cascade
GO:0043473 ISS pigmentation
GO:0043525 ISS positive regulation of neuron apoptotic process
GO:0043535 IMP regulation of blood vessel endothelial cell migration
GO:0045124 ISS regulation of bone resorption
GO:0045671 IEA negative regulation of osteoclast differentiation
GO:0045685 ISS regulation of glial cell differentiation
GO:0045762 ISS positive regulation of adenylate cyclase activity
GO:0045765 IMP regulation of angiogenesis
GO:0046580 IBA negative regulation of Ras protein signal transduction
GO:0046929 IEA negative regulation of neurotransmitter secretion
GO:0048147 ISS negative regulation of fibroblast proliferation
GO:0048169 IEA regulation of long-term neuronal synaptic plasticity
GO:0048485 ISS sympathetic nervous system development
GO:0048593 ISS camera-type eye morphogenesis
GO:0048712 IEA negative regulation of astrocyte differentiation
GO:0048715 ISS negative regulation of oligodendrocyte differentiation
GO:0048745 ISS smooth muscle tissue development
GO:0048844 ISS artery morphogenesis
GO:0048853 ISS forebrain morphogenesis
GO:0050890 IMP cognition
GO:1902043 IEA positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001241 IEA 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
ENSMUSG00000020716 Nf1 neurofibromatosis 1 protein_coding Mus_musculus

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