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intracellular

The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.

membrane

Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

cellular_component

The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together.

proteinaceous extracellular matrix

A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity.

cell

The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

endomembrane system

A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.

vesicle membrane

The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

cytoplasmic membrane-bounded vesicle

A membrane-bounded vesicle found in the cytoplasm of the cell.

cytoplasmic vesicle membrane

The lipid bilayer surrounding a cytoplasmic vesicle.

extracellular matrix

A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants).

organelle membrane

The lipid bilayer surrounding an organelle.

cytoplasmic vesicle

A vesicle formed of membrane or protein, found in the cytoplasm of a cell.

vesicle

Any small, fluid-filled, spherical organelle enclosed by membrane or protein.

membrane-bounded vesicle

Any small, fluid-filled, spherical organelle enclosed by a lipid bilayer.

melanosome membrane

The lipid bilayer surrounding a melanosome.

melanosome

A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.

organelle

Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.

membrane-bounded organelle

Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

intracellular organelle

Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.

intracellular membrane-bounded organelle

Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

extracellular region part

Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite.

organelle part

Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane.

intracellular part

Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.

cytoplasmic vesicle part

Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.

cytoplasmic part

Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

intracellular organelle part

A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane.

cell part

Any constituent part of a cell, the basic structural and functional unit of all organisms.

chitosome

An intracellular membrane-bounded particle found in fungi and containing chitin synthase; it synthesizes chitin microfibrils. Chitin synthase activity exists in chitosomes and they are proposed to act as a reservoir for regulated transport of chitin synthase enzymes to the division septum.

pigment granule

A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes.

all

This term is the most general term possible

extracellular region part

Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite.

cell part

Any constituent part of a cell, the basic structural and functional unit of all organisms.

organelle part

Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane.

organelle membrane

The lipid bilayer surrounding an organelle.

cytoplasmic vesicle

A vesicle formed of membrane or protein, found in the cytoplasm of a cell.

intracellular membrane-bounded organelle

Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

intracellular organelle part

A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane.

intracellular part

Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.

organelle membrane

The lipid bilayer surrounding an organelle.

vesicle membrane

The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

intracellular organelle

Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.

intracellular organelle part

A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane.

cytoplasmic vesicle part

Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.

vesicle membrane

The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

cytoplasmic membrane-bounded vesicle

A membrane-bounded vesicle found in the cytoplasm of the cell.

cytoplasmic membrane-bounded vesicle

A membrane-bounded vesicle found in the cytoplasm of the cell.

cytoplasmic vesicle membrane

The lipid bilayer surrounding a cytoplasmic vesicle.

cytoplasmic part

Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

cytoplasmic vesicle

A vesicle formed of membrane or protein, found in the cytoplasm of a cell.

cytoplasmic vesicle part

Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.

cytoplasmic vesicle membrane

The lipid bilayer surrounding a cytoplasmic vesicle.

melanosome membrane

The lipid bilayer surrounding a melanosome.

melanosome membrane

The lipid bilayer surrounding a melanosome.

Id	Pvalue	ExpCount	Count	Size	Term
GO:0006805	3.537e-02	0.1716	3 UGT1A1, UGT1A6, UGT1A9	13	xenobiotic metabolic process
GO:0009725	3.695e-02	1.056	6 CD24, FAS, GATA3, GHR, IRS2, UGT1A1	80	response to hormone stimulus
GO:0007169	3.944e-02	1.941	8 CRYAB, DGKD, EPHB2, GHR, IRS2, PDGFC, PILRB, TEK	147	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007167	4.375e-02	3.01	10 CRYAB, DGKD, EPHB2, GHR, IRS2, LTBP2, PDGFC, PILRB, TEK, TOB1	228	enzyme linked receptor protein signaling pathway
GO:0009719	4.939e-02	1.149	6 CD24, FAS, GATA3, GHR, IRS2, UGT1A1	87	response to endogenous stimulus

Id	Pvalue	ExpCount	Count	Size	Term
GO:0033162	6.386e-03	0.02713	2 SYTL2, TYRP1	2	melanosome membrane
GO:0045009	6.386e-03	0.02713	2 SYTL2, TYRP1	2	chitosome
GO:0005578	7.431e-03	2.076	9 CD248, COL11A1, CRTAP, FBN2, HSPG2, LTBP2, MFAP5, SNCA, TIMP2	153	proteinaceous extracellular matrix
GO:0031012	1.104e-02	2.211	9 CD248, COL11A1, CRTAP, FBN2, HSPG2, LTBP2, MFAP5, SNCA, TIMP2	163	extracellular matrix
GO:0044420	3.825e-02	0.8546	5 COL11A1, HSPG2, MFAP5, SNCA, TIMP2	63	extracellular matrix part

Id	Pvalue	ExpCount	Count	Size	Term
GO:0015020	3.842e-02	0.1589	3 UGT1A1, UGT1A6, UGT1A9	12	glucuronosyltransferase activity

Id	Pvalue	ExpCount	Count	Size	Term
00150	1.304e-02	0.2891	4 STS, UGT1A1, UGT1A6, UGT1A9	21	Androgen and estrogen metabolism
00040	3.648e-02	0.1789	3 UGT1A1, UGT1A6, UGT1A9	13	Pentose and glucuronate interconversions

No enriched terms

No enriched terms

Entrez genes

A2Malpha-2-macroglobulin (217757_at), score: 0.6 ABCB1ATP-binding cassette, sub-family B (MDR/TAP), member 1 (209993_at), score: 1 ABHD14Aabhydrolase domain containing 14A (210006_at), score: -0.58 AIM2absent in melanoma 2 (206513_at), score: 0.64 AKAP8LA kinase (PRKA) anchor protein 8-like (218064_s_at), score: 0.59 AKR1B10aldo-keto reductase family 1, member B10 (aldose reductase) (206561_s_at), score: 0.57 ATP6V1B2ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (201089_at), score: 0.58 BAZ2Abromodomain adjacent to zinc finger domain, 2A (201353_s_at), score: 0.59 BHMT2betaine-homocysteine methyltransferase 2 (219902_at), score: 0.56 C10orf116chromosome 10 open reading frame 116 (203571_s_at), score: -0.58 C3orf64chromosome 3 open reading frame 64 (221935_s_at), score: -0.53 C4orf31chromosome 4 open reading frame 31 (219747_at), score: -0.54 C5orf30chromosome 5 open reading frame 30 (221823_at), score: -0.61 CD24CD24 molecule (266_s_at), score: 0.65 CD248CD248 molecule, endosialin (219025_at), score: -0.49 CDKN1Acyclin-dependent kinase inhibitor 1A (p21, Cip1) (202284_s_at), score: -0.5 CDR2Lcerebellar degeneration-related protein 2-like (213230_at), score: -0.5 COL11A1collagen, type XI, alpha 1 (37892_at), score: -0.58 COPZ2coatomer protein complex, subunit zeta 2 (219561_at), score: -0.48 CRTAPcartilage associated protein (201380_at), score: -0.6 CRYABcrystallin, alpha B (209283_at), score: -0.65 DDX17DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (208151_x_at), score: 0.73 DGKDdiacylglycerol kinase, delta 130kDa (208072_s_at), score: 0.62 DIO2deiodinase, iodothyronine, type II (203700_s_at), score: 0.6 DUSP14dual specificity phosphatase 14 (203367_at), score: -0.55 EPHB2EPH receptor B2 (209589_s_at), score: 0.66 FAM105Afamily with sequence similarity 105, member A (219694_at), score: 0.56 FAM169Afamily with sequence similarity 169, member A (213954_at), score: 0.7 FASFas (TNF receptor superfamily, member 6) (204780_s_at), score: -0.53 FAT1FAT tumor suppressor homolog 1 (Drosophila) (201579_at), score: -0.66 FBN2fibrillin 2 (203184_at), score: -0.47 FKBP4FK506 binding protein 4, 59kDa (200894_s_at), score: 0.62 FKBP9FK506 binding protein 9, 63 kDa (212169_at), score: -0.69 GABREgamma-aminobutyric acid (GABA) A receptor, epsilon (204537_s_at), score: 0.59 GAGE4G antigen 4 (207086_x_at), score: 0.96 GAGE6G antigen 6 (208155_x_at), score: 0.93 GALNT6UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (219956_at), score: -0.48 GAS6growth arrest-specific 6 (202177_at), score: -0.55 GATA3GATA binding protein 3 (209604_s_at), score: 0.82 GHRgrowth hormone receptor (205498_at), score: -0.49 GLSglutaminase (203159_at), score: -0.57 GLTPglycolipid transfer protein (219267_at), score: -0.49 HAS2hyaluronan synthase 2 (206432_at), score: -0.54 HERC5hect domain and RLD 5 (219863_at), score: 0.74 HGSNATheparan-alpha-glucosaminide N-acetyltransferase (218017_s_at), score: -0.64 HRASLSHRAS-like suppressor (219983_at), score: 0.57 HSPB7heat shock 27kDa protein family, member 7 (cardiovascular) (218934_s_at), score: -0.61 HSPG2heparan sulfate proteoglycan 2 (201655_s_at), score: -0.48 IPO8importin 8 (205701_at), score: 0.57 IRS2insulin receptor substrate 2 (209185_s_at), score: -0.55 LBHlimb bud and heart development homolog (mouse) (221011_s_at), score: -0.48 LDOC1leucine zipper, down-regulated in cancer 1 (204454_at), score: -0.55 LEF1lymphoid enhancer-binding factor 1 (221558_s_at), score: 0.61 LOC388796hypothetical LOC388796 (65588_at), score: 0.58 LOC728855hypothetical LOC728855 (222001_x_at), score: 0.66 LRRC2leucine rich repeat containing 2 (219949_at), score: -0.63 LTBP2latent transforming growth factor beta binding protein 2 (204682_at), score: -0.55 MAN2A1mannosidase, alpha, class 2A, member 1 (205105_at), score: -0.62 MARCH2membrane-associated ring finger (C3HC4) 2 (210075_at), score: -0.47 MARK1MAP/microtubule affinity-regulating kinase 1 (221047_s_at), score: 0.7 MFAP5microfibrillar associated protein 5 (213764_s_at), score: -0.62 MITFmicrophthalmia-associated transcription factor (207233_s_at), score: 0.57 MOXD1monooxygenase, DBH-like 1 (209708_at), score: -0.52 MXRA8matrix-remodelling associated 8 (213422_s_at), score: -0.48 MYO1Cmyosin IC (214656_x_at), score: -0.56 NCRNA00084non-protein coding RNA 84 (214657_s_at), score: 0.61 NEFLneurofilament, light polypeptide (221805_at), score: 0.7 NFASCneurofascin homolog (chicken) (213438_at), score: -0.5 NGDNneuroguidin, EIF4E binding protein (213794_s_at), score: 0.56 NMUneuromedin U (206023_at), score: 0.61 NOL12nucleolar protein 12 (219324_at), score: 0.55 NONOnon-POU domain containing, octamer-binding (208698_s_at), score: 0.64 NRGNneurogranin (protein kinase C substrate, RC3) (204081_at), score: 0.62 OASL2'-5'-oligoadenylate synthetase-like (210797_s_at), score: 0.98 PBX1pre-B-cell leukemia homeobox 1 (212148_at), score: -0.48 PCLOpiccolo (presynaptic cytomatrix protein) (213558_at), score: 0.61 PDE10Aphosphodiesterase 10A (205501_at), score: 0.58 PDGFCplatelet derived growth factor C (218718_at), score: -0.5 PILRBpaired immunoglobin-like type 2 receptor beta (220954_s_at), score: 0.65 PPM2Cprotein phosphatase 2C, magnesium-dependent, catalytic subunit (218273_s_at), score: 0.58 PPP1R3Cprotein phosphatase 1, regulatory (inhibitor) subunit 3C (204284_at), score: -0.5 PQBP1polyglutamine binding protein 1 (214527_s_at), score: 0.55 PSMB4proteasome (prosome, macropain) subunit, beta type, 4 (202243_s_at), score: -0.61 PSMB8proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (209040_s_at), score: 0.56 PTGER3prostaglandin E receptor 3 (subtype EP3) (213933_at), score: -0.52 QPCTglutaminyl-peptide cyclotransferase (205174_s_at), score: -0.53 RAB40BRAB40B, member RAS oncogene family (204547_at), score: -0.52 RABGAP1LRAB GTPase activating protein 1-like (213982_s_at), score: -0.57 RAD23BRAD23 homolog B (S. cerevisiae) (201223_s_at), score: -0.66 RBM3RNA binding motif (RNP1, RRM) protein 3 (222026_at), score: -0.49 RECKreversion-inducing-cysteine-rich protein with kazal motifs (205407_at), score: -0.49 REEP1receptor accessory protein 1 (204364_s_at), score: 0.55 RGP1RGP1 retrograde golgi transport homolog (S. cerevisiae) (203169_at), score: 0.55 SAMD4Asterile alpha motif domain containing 4A (212845_at), score: -0.48 SERPINB7serpin peptidase inhibitor, clade B (ovalbumin), member 7 (206421_s_at), score: -0.52 SGCDsarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (213543_at), score: -0.48 SLC30A1solute carrier family 30 (zinc transporter), member 1 (212907_at), score: -0.48 SLC4A4solute carrier family 4, sodium bicarbonate cotransporter, member 4 (203908_at), score: -0.57 SLC7A11solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 (217678_at), score: 0.55 SMEK1SMEK homolog 1, suppressor of mek1 (Dictyostelium) (220368_s_at), score: 0.6 SMG1SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (210057_at), score: 0.56 SNCAsynuclein, alpha (non A4 component of amyloid precursor) (204466_s_at), score: 0.72 SSR3signal sequence receptor, gamma (translocon-associated protein gamma) (217790_s_at), score: -0.54 STSsteroid sulfatase (microsomal), isozyme S (203767_s_at), score: -0.47 SYTL2synaptotagmin-like 2 (220613_s_at), score: 0.66 TBC1D3TBC1 domain family, member 3 (209403_at), score: 0.57 TBC1D8TBC1 domain family, member 8 (with GRAM domain) (204526_s_at), score: 0.6 TCEAL2transcription elongation factor A (SII)-like 2 (211276_at), score: 0.88 TEKTEK tyrosine kinase, endothelial (206702_at), score: -0.54 TIMP2TIMP metallopeptidase inhibitor 2 (203167_at), score: -0.62 TMEM204transmembrane protein 204 (219315_s_at), score: -0.48 TMEM47transmembrane protein 47 (209656_s_at), score: -0.63 TMEM51transmembrane protein 51 (218815_s_at), score: 0.55 TMOD1tropomodulin 1 (203661_s_at), score: 0.66 TNS1tensin 1 (221748_s_at), score: -0.59 TOB1transducer of ERBB2, 1 (202704_at), score: -0.52 TSPAN13tetraspanin 13 (217979_at), score: -0.57 TSPYL5TSPY-like 5 (213122_at), score: -0.52 TYRP1tyrosinase-related protein 1 (205694_at), score: 0.57 UAP1UDP-N-acteylglucosamine pyrophosphorylase 1 (209340_at), score: -0.57 UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) (221962_s_at), score: 0.55 UBL3ubiquitin-like 3 (201535_at), score: -0.6 UGT1A1UDP glucuronosyltransferase 1 family, polypeptide A1 (207126_x_at), score: 0.9 UGT1A6UDP glucuronosyltransferase 1 family, polypeptide A6 (206094_x_at), score: 0.91 UGT1A9UDP glucuronosyltransferase 1 family, polypeptide A9 (204532_x_at), score: 0.9 VWA5Avon Willebrand factor A domain containing 5A (210102_at), score: 0.58 WT1Wilms tumor 1 (206067_s_at), score: 0.73

Non-Entrez genes

Unknown, score:

Id	sample	Experiment	ExpName	Array	Syndrome	Cell.line
E-GEOD-4219-raw-cel-1311956178.cel	6	7	Sph-mono	hgu133plus2	none	Sph-mon 1
E-GEOD-4219-raw-cel-1311956824.cel	24	7	Sph-mono	hgu133plus2	none	Sph-mon 1
E-GEOD-4219-raw-cel-1311956358.cel	10	7	Sph-mono	hgu133plus2	none	Sph-mon 1
E-GEOD-3407-raw-cel-1437949854.cel	7	4	Cockayne	hgu133a	CS	eGFP
E-GEOD-3407-raw-cel-1437949938.cel	8	4	Cockayne	hgu133a	none	CSB
E-GEOD-3407-raw-cel-1437949579.cel	2	4	Cockayne	hgu133a	none	CSB
E-GEOD-3407-raw-cel-1437949721.cel	5	4	Cockayne	hgu133a	CS	CSB
E-GEOD-3407-raw-cel-1437949750.cel	6	4	Cockayne	hgu133a	CS	CSB