NF1 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
endothelial cell	27 studies	47% ± 18%	Explore
fibroblast	21 studies	37% ± 18%	Explore
astrocyte	19 studies	57% ± 19%	Explore
pericyte	16 studies	40% ± 21%	Explore
oligodendrocyte	15 studies	52% ± 16%	Explore
oligodendrocyte precursor cell	15 studies	60% ± 19%	Explore
microglial cell	15 studies	57% ± 14%	Explore
macrophage	14 studies	44% ± 20%	Explore
glutamatergic neuron	12 studies	64% ± 21%	Explore
GABAergic neuron	11 studies	65% ± 21%	Explore
basal cell	10 studies	41% ± 24%	Explore
adipocyte	10 studies	43% ± 12%	Explore
smooth muscle cell	10 studies	40% ± 14%	Explore
epithelial cell	9 studies	46% ± 19%	Explore
myeloid cell	9 studies	31% ± 11%	Explore
endothelial cell of lymphatic vessel	9 studies	42% ± 18%	Explore
neuron	8 studies	51% ± 23%	Explore
dendritic cell	8 studies	35% ± 12%	Explore
ciliated cell	8 studies	36% ± 15%	Explore
club cell	7 studies	39% ± 19%	Explore
retinal cone cell	7 studies	46% ± 25%	Explore
interneuron	6 studies	74% ± 16%	Explore
retinal ganglion cell	6 studies	50% ± 22%	Explore
retina horizontal cell	6 studies	51% ± 25%	Explore
mesothelial cell	6 studies	42% ± 14%	Explore
Mueller cell	6 studies	45% ± 21%	Explore
type I pneumocyte	6 studies	44% ± 14%	Explore
type II pneumocyte	6 studies	43% ± 14%	Explore
amacrine cell	5 studies	50% ± 20%	Explore
cardiac muscle cell	5 studies	52% ± 12%	Explore
mast cell	5 studies	29% ± 9%	Explore
T cell	5 studies	24% ± 9%	Explore
monocyte	5 studies	41% ± 7%	Explore
abnormal cell	4 studies	30% ± 20%	Explore
glial cell	4 studies	41% ± 15%	Explore
granule cell	4 studies	58% ± 3%	Explore
retinal bipolar neuron	4 studies	41% ± 24%	Explore
retinal pigment epithelial cell	4 studies	47% ± 23%	Explore
vein endothelial cell	4 studies	40% ± 21%	Explore
OFF-bipolar cell	4 studies	41% ± 24%	Explore
ON-bipolar cell	4 studies	44% ± 27%	Explore
retinal rod cell	4 studies	51% ± 14%	Explore
endothelial cell of vascular tree	4 studies	39% ± 24%	Explore
connective tissue cell	4 studies	34% ± 11%	Explore
respiratory goblet cell	4 studies	44% ± 19%	Explore
goblet cell	4 studies	37% ± 31%	Explore
classical monocyte	3 studies	17% ± 1%	Explore
differentiation-committed oligodendrocyte precursor	3 studies	59% ± 3%	Explore
GABAergic interneuron	3 studies	71% ± 2%	Explore
progenitor cell	3 studies	53% ± 10%	Explore
plasma cell	3 studies	25% ± 8%	Explore
endothelial cell of artery	3 studies	25% ± 7%	Explore
mononuclear phagocyte	3 studies	32% ± 11%	Explore
lymphocyte	3 studies	33% ± 13%	Explore
GABAergic amacrine cell	3 studies	63% ± 16%	Explore
glycinergic amacrine cell	3 studies	53% ± 13%	Explore
rod bipolar cell	3 studies	50% ± 23%	Explore
hepatocyte	3 studies	64% ± 19%	Explore
ependymal cell	3 studies	65% ± 15%	Explore
alveolar macrophage	3 studies	54% ± 10%	Explore
capillary endothelial cell	3 studies	35% ± 7%	Explore
myofibroblast cell	3 studies	43% ± 22%	Explore
natural killer cell	3 studies	25% ± 4%	Explore
muscle cell	3 studies	41% ± 24%	Explore
transit amplifying cell	3 studies	44% ± 38%	Explore
mucus secreting cell	3 studies	46% ± 11%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	18 studies	57% ± 21%	Explore
lung	9 studies	31% ± 12%	Explore
eye	8 studies	43% ± 24%	Explore
heart	5 studies	39% ± 12%	Explore
intestine	3 studies	21% ± 4%	Explore
adipose	3 studies	47% ± 15%	Explore
kidney	3 studies	40% ± 7%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	3495.00	1444 / 1445	99%	18.58	181 / 183
brain	100%	5253.56	2641 / 2642	99%	18.79	697 / 705
thymus	100%	6009.46	653 / 653	98%	14.71	595 / 605
pancreas	99%	2540.13	326 / 328	98%	10.19	175 / 178
lung	100%	4375.11	577 / 578	98%	12.51	1128 / 1155
breast	100%	4628.45	459 / 459	97%	15.68	1088 / 1118
kidney	100%	3063.11	89 / 89	97%	11.35	871 / 901
stomach	100%	2929.63	359 / 359	97%	12.43	276 / 286
prostate	100%	4141.43	245 / 245	96%	9.84	483 / 502
intestine	100%	3905.74	966 / 966	96%	10.33	507 / 527
bladder	100%	4396.29	21 / 21	96%	10.40	484 / 504
uterus	100%	5072.39	170 / 170	94%	8.96	430 / 459
skin	100%	4915.37	1807 / 1809	90%	10.77	426 / 472
adrenal gland	100%	4756.16	258 / 258	87%	6.93	200 / 230
ovary	100%	5014.57	180 / 180	86%	6.58	368 / 430
liver	100%	1824.16	225 / 226	68%	4.34	278 / 406
adipose	100%	4188.98	1204 / 1204	0%	0	0 / 0
blood vessel	100%	5117.10	1335 / 1335	0%	0	0 / 0
spleen	100%	2623.50	241 / 241	0%	0	0 / 0
ureter	0%	0	0 / 0	100%	4.29	1 / 1
muscle	100%	2798.89	802 / 803	0%	0	0 / 0
heart	97%	3109.82	832 / 861	0%	0	0 / 0
tonsil	0%	0	0 / 0	91%	8.99	41 / 45
eye	0%	0	0 / 0	86%	6.86	69 / 80
peripheral blood	73%	2052.67	681 / 929	0%	0	0 / 0
lymph node	0%	0	0 / 0	69%	4.04	20 / 29
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0010468	Biological process	regulation of gene expression
GO_0043535	Biological process	regulation of blood vessel endothelial cell migration
GO_0048147	Biological process	negative regulation of fibroblast proliferation
GO_0021510	Biological process	spinal cord development
GO_0048485	Biological process	sympathetic nervous system development
GO_0070372	Biological process	regulation of ERK1 and ERK2 cascade
GO_0048593	Biological process	camera-type eye morphogenesis
GO_0001656	Biological process	metanephros development
GO_0045124	Biological process	regulation of bone resorption
GO_0036135	Biological process	Schwann cell migration
GO_2000647	Biological process	negative regulation of stem cell proliferation
GO_0051402	Biological process	neuron apoptotic process
GO_0030036	Biological process	actin cytoskeleton organization
GO_0097192	Biological process	extrinsic apoptotic signaling pathway in absence of ligand
GO_0001666	Biological process	response to hypoxia
GO_0043491	Biological process	phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO_0061534	Biological process	gamma-aminobutyric acid secretion, neurotransmission
GO_0007154	Biological process	cell communication
GO_0043407	Biological process	negative regulation of MAP kinase activity
GO_1904707	Biological process	positive regulation of vascular associated smooth muscle cell proliferation
GO_0048853	Biological process	forebrain morphogenesis
GO_0033027	Biological process	positive regulation of mast cell apoptotic process
GO_0032228	Biological process	regulation of synaptic transmission, GABAergic
GO_0072089	Biological process	stem cell proliferation
GO_0001525	Biological process	angiogenesis
GO_0007519	Biological process	skeletal muscle tissue development
GO_1900271	Biological process	regulation of long-term synaptic potentiation
GO_0002686	Biological process	negative regulation of leukocyte migration
GO_0061535	Biological process	glutamate secretion, neurotransmission
GO_0021897	Biological process	forebrain astrocyte development
GO_0043547	Biological process	positive regulation of GTPase activity
GO_0000165	Biological process	MAPK cascade
GO_0001649	Biological process	osteoblast differentiation
GO_0001953	Biological process	negative regulation of cell-matrix adhesion
GO_0042308	Biological process	negative regulation of protein import into nucleus
GO_0048712	Biological process	negative regulation of astrocyte differentiation
GO_0060291	Biological process	long-term synaptic potentiation
GO_0046929	Biological process	negative regulation of neurotransmitter secretion
GO_0008542	Biological process	visual learning
GO_0045765	Biological process	regulation of angiogenesis
GO_0046580	Biological process	negative regulation of Ras protein signal transduction
GO_0042060	Biological process	wound healing
GO_0001937	Biological process	negative regulation of endothelial cell proliferation
GO_0043087	Biological process	regulation of GTPase activity
GO_1904738	Biological process	vascular associated smooth muscle cell migration
GO_0043473	Biological process	pigmentation
GO_0030325	Biological process	adrenal gland development
GO_0048144	Biological process	fibroblast proliferation
GO_0006606	Biological process	protein import into nucleus
GO_0030336	Biological process	negative regulation of cell migration
GO_0097529	Biological process	myeloid leukocyte migration
GO_0048745	Biological process	smooth muscle tissue development
GO_0007405	Biological process	neuroblast proliferation
GO_0007406	Biological process	negative regulation of neuroblast proliferation
GO_0014010	Biological process	Schwann cell proliferation
GO_0007265	Biological process	Ras protein signal transduction
GO_0048715	Biological process	negative regulation of oligodendrocyte differentiation
GO_0006469	Biological process	negative regulation of protein kinase activity
GO_0048169	Biological process	regulation of long-term neuronal synaptic plasticity
GO_0035021	Biological process	negative regulation of Rac protein signal transduction
GO_0048820	Biological process	hair follicle maturation
GO_0098597	Biological process	observational learning
GO_0030316	Biological process	osteoclast differentiation
GO_0008625	Biological process	extrinsic apoptotic signaling pathway via death domain receptors
GO_0070667	Biological process	negative regulation of mast cell proliferation
GO_0001889	Biological process	liver development
GO_0010626	Biological process	negative regulation of Schwann cell proliferation
GO_0001952	Biological process	regulation of cell-matrix adhesion
GO_1990874	Biological process	vascular associated smooth muscle cell proliferation
GO_0007422	Biological process	peripheral nervous system development
GO_0016601	Biological process	Rac protein signal transduction
GO_0007420	Biological process	brain development
GO_0030199	Biological process	collagen fibril organization
GO_0043065	Biological process	positive regulation of apoptotic process
GO_0045762	Biological process	positive regulation of adenylate cyclase activity
GO_0048844	Biological process	artery morphogenesis
GO_0021764	Biological process	amygdala development
GO_0034605	Biological process	cellular response to heat
GO_0007507	Biological process	heart development
GO_0045685	Biological process	regulation of glial cell differentiation
GO_0033024	Biological process	mast cell apoptotic process
GO_0030198	Biological process	extracellular matrix organization
GO_0043525	Biological process	positive regulation of neuron apoptotic process
GO_0022011	Biological process	myelination in peripheral nervous system
GO_0016525	Biological process	negative regulation of angiogenesis
GO_1900148	Biological process	negative regulation of Schwann cell migration
GO_0014044	Biological process	Schwann cell development
GO_0001938	Biological process	positive regulation of endothelial cell proliferation
GO_0001935	Biological process	endothelial cell proliferation
GO_0048709	Biological process	oligodendrocyte differentiation
GO_0043409	Biological process	negative regulation of MAPK cascade
GO_0050890	Biological process	cognition
GO_1904753	Biological process	negative regulation of vascular associated smooth muscle cell migration
GO_0021987	Biological process	cerebral cortex development
GO_2001241	Biological process	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
GO_0021915	Biological process	neural tube development
GO_0099175	Biological process	regulation of postsynapse organization
GO_0045671	Biological process	negative regulation of osteoclast differentiation
GO_0070662	Biological process	mast cell proliferation
GO_0098978	Cellular component	glutamatergic synapse
GO_0098793	Cellular component	presynapse
GO_0005634	Cellular component	nucleus
GO_0005730	Cellular component	nucleolus
GO_0005654	Cellular component	nucleoplasm
GO_0030425	Cellular component	dendrite
GO_0005886	Cellular component	plasma membrane
GO_0016020	Cellular component	membrane
GO_0005737	Cellular component	cytoplasm
GO_0030424	Cellular component	axon
GO_0005829	Cellular component	cytosol
GO_0005096	Molecular function	GTPase activator activity
GO_0005515	Molecular function	protein binding
GO_0031210	Molecular function	phosphatidylcholine binding
GO_0008429	Molecular function	phosphatidylethanolamine binding

Gene name	NF1
Protein name	Neurofibromin 1 NF1 Neurofibromin Truncated neurofibromin 1 NF1 gene homologue protein Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]
Synonyms	gene homologue
Description	FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. .
Accessions	ENST00000696139.1 ENST00000490416.2 A0A1W2PS74 ENST00000696138.1 ENST00000581113.7 A0A8Q3WL04 Q14180 ENST00000687027.1 ENST00000689464.1 ENST00000358273.9 [P21359-1] A0A1W2PPA7 K7EJE7 Q4W6X4 ENST00000686189.1 ENST00000693617.1 A0A8I5KWT7 ENST00000487476.5 [P21359-3] ENST00000422121.2 A0A8I5KSC3 J3KRT8 A0A8Q3WL49 ENST00000431387.8 [P21359-5] K7ENT2 ENST00000684826.1 A0A1J0F944 A0A8I5KSM3 ENST00000691014.1 ENST00000456735.6 ENST00000479536.2 ENST00000471572.6 K7EID4 ENST00000468273.1 J3KSB5 A0A1J0F943 J3QQN8 H0Y465 J3QSG6 A0A8I5KV71 Q9UMU3 ENST00000356175.7 [P21359-2] P21359 ENST00000479614.1 A0A1J0F955 ENST00000466819.5 ENST00000581790.5 J3KSX8 A0A8I5KYK6 ENST00000696141.1 ENST00000579081.5 ENST00000495910.6 J3QLS2 A0A8Q3WL11 A0A1J0F939 A0A8I5KWR6

NF1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review