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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: neurofibromin 1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000358273 NF1-001 ENSG00000196712 9606 + 17:31094927-31377677 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBreastColonHeartKidneyLiverLungOvaryPlacentaTestisENST00000358273
Transcript ID Adipose Adrenal Bladder Breast Colon Heart Kidney Liver Lung Ovary Placenta Testis
ENST00000358273 2.277±0.00 3.127±0.00 2.670±0.00 3.536±0.00 2.030±0.80 1.957±0.00 3.357±1.13 4.292±0.00 2.998±1.23 3.000±2.13 1.706±0.12 2.575±0.00

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 Biotype Species E-Value Bit Score
ENSMUST00000071325 Nf1-001 protein_coding Mus_musculus 0 11840
ENSMUST00000108251 Nf1-003 protein_coding Mus_musculus 0 6113
ENSMUST00000146699 Nf1-007 retained_intron Mus_musculus 0 3705
ENSMUST00000137997 Nf1-006 protein_coding Mus_musculus 0 3546
ENSMUST00000131800 Nf1-004 retained_intron Mus_musculus 0 2392
ENSMUST00000122917 Nf1-002 processed_transcript Mus_musculus 0 898
ENSMUST00000130979 Nf1-008 processed_transcript Mus_musculus 0 785
ENSMUST00000145839 Nf1-005 processed_transcript Mus_musculus 0 335

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