TSPAN31

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.18579010
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.18579010
3L-phenylalanine metabolic process (GO:0006558)6.81928461
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.81928461
5aromatic amino acid family catabolic process (GO:0009074)6.32757011
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.75771600
7tryptophan catabolic process (GO:0006569)5.61616059
8indole-containing compound catabolic process (GO:0042436)5.61616059
9indolalkylamine catabolic process (GO:0046218)5.61616059
10glyoxylate metabolic process (GO:0046487)5.51208531
11bile acid biosynthetic process (GO:0006699)5.48425315
12tryptophan metabolic process (GO:0006568)5.36658594
13kynurenine metabolic process (GO:0070189)5.26932115
14high-density lipoprotein particle remodeling (GO:0034375)5.26235613
15alpha-linolenic acid metabolic process (GO:0036109)5.25145530
16peptidyl-glutamic acid carboxylation (GO:0017187)5.08697266
17protein carboxylation (GO:0018214)5.08697266
18negative regulation of fibrinolysis (GO:0051918)5.04613047
19sulfur amino acid catabolic process (GO:0000098)4.97386908
20regulation of fibrinolysis (GO:0051917)4.89631200
21regulation of protein activation cascade (GO:2000257)4.83227419
22complement activation, alternative pathway (GO:0006957)4.77350951
23urea cycle (GO:0000050)4.69798054
24urea metabolic process (GO:0019627)4.69798054
25reverse cholesterol transport (GO:0043691)4.69148241
26regulation of cholesterol esterification (GO:0010872)4.68104067
27bile acid metabolic process (GO:0008206)4.61596099
28aromatic amino acid family metabolic process (GO:0009072)4.61588563
29tyrosine metabolic process (GO:0006570)4.60031835
30cysteine metabolic process (GO:0006534)4.59950772
31aldehyde catabolic process (GO:0046185)4.56093508
32regulation of complement activation (GO:0030449)4.54010477
33behavioral response to nicotine (GO:0035095)4.53895276
34plasma lipoprotein particle remodeling (GO:0034369)4.53757369
35protein-lipid complex remodeling (GO:0034368)4.53757369
36macromolecular complex remodeling (GO:0034367)4.53757369
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.51407657
38homocysteine metabolic process (GO:0050667)4.40128860
39nitrogen cycle metabolic process (GO:0071941)4.33923959
40regulation of triglyceride catabolic process (GO:0010896)4.29091838
41serine family amino acid catabolic process (GO:0009071)4.26555455
42water-soluble vitamin biosynthetic process (GO:0042364)4.25333910
43phospholipid efflux (GO:0033700)4.20166756
44amine catabolic process (GO:0009310)4.19501878
45cellular biogenic amine catabolic process (GO:0042402)4.19501878
46triglyceride homeostasis (GO:0070328)4.15809013
47acylglycerol homeostasis (GO:0055090)4.15809013
48plasma lipoprotein particle clearance (GO:0034381)4.14815958
49alpha-amino acid catabolic process (GO:1901606)4.13101365
50indolalkylamine metabolic process (GO:0006586)4.08418830
51cellular ketone body metabolic process (GO:0046950)4.08124226
52coenzyme catabolic process (GO:0009109)4.07492983
53DNA deamination (GO:0045006)4.05498992
54amino-acid betaine metabolic process (GO:0006577)4.04730934
55cholesterol efflux (GO:0033344)4.04540641
56axoneme assembly (GO:0035082)3.99779317
57low-density lipoprotein particle remodeling (GO:0034374)3.99494503
58bile acid and bile salt transport (GO:0015721)3.97829827
59lysine metabolic process (GO:0006553)3.97254226
60lysine catabolic process (GO:0006554)3.97254226
61cellular glucuronidation (GO:0052695)3.95386776
62negative regulation of sterol transport (GO:0032372)3.94266516
63negative regulation of cholesterol transport (GO:0032375)3.94266516
64cofactor catabolic process (GO:0051187)3.86893680
65fibrinolysis (GO:0042730)3.85763071
66benzene-containing compound metabolic process (GO:0042537)3.84167164
67cellular amino acid catabolic process (GO:0009063)3.83863762
68positive regulation of lipoprotein lipase activity (GO:0051006)3.81749167
69positive regulation of triglyceride lipase activity (GO:0061365)3.81749167
70preassembly of GPI anchor in ER membrane (GO:0016254)3.77160844
71opsonization (GO:0008228)3.76541595
72imidazole-containing compound metabolic process (GO:0052803)3.75559424
73serine family amino acid biosynthetic process (GO:0009070)3.74156676
74uronic acid metabolic process (GO:0006063)3.72076051
75glucuronate metabolic process (GO:0019585)3.72076051
76fucose catabolic process (GO:0019317)3.70578356
77L-fucose metabolic process (GO:0042354)3.70578356
78L-fucose catabolic process (GO:0042355)3.70578356
79detection of light stimulus involved in sensory perception (GO:0050962)3.67450530
80detection of light stimulus involved in visual perception (GO:0050908)3.67450530
81cornea development in camera-type eye (GO:0061303)3.67200501
82cellular modified amino acid catabolic process (GO:0042219)3.66177751
83glycine metabolic process (GO:0006544)3.63335962
84serine family amino acid metabolic process (GO:0009069)3.63321367
85cellular response to ATP (GO:0071318)3.60420923
86arginine metabolic process (GO:0006525)3.59974730
87epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.59508122
88ketone body metabolic process (GO:1902224)3.54973670
89respiratory chain complex IV assembly (GO:0008535)3.54395191
90ethanol oxidation (GO:0006069)3.52498305
91plasma lipoprotein particle assembly (GO:0034377)3.52433605
92very long-chain fatty acid metabolic process (GO:0000038)3.51512071
93glutamate metabolic process (GO:0006536)3.49364671
94carboxylic acid catabolic process (GO:0046395)3.47332309
95organic acid catabolic process (GO:0016054)3.47332309
96blood coagulation, intrinsic pathway (GO:0007597)3.46028103
97protein activation cascade (GO:0072376)3.42740887
98complement activation (GO:0006956)3.42692728
99very-low-density lipoprotein particle assembly (GO:0034379)3.42397038
100plasma lipoprotein particle organization (GO:0071827)3.42284755
101heme transport (GO:0015886)3.42224349
102complement activation, classical pathway (GO:0006958)3.42195965
103negative regulation of protein activation cascade (GO:2000258)3.41105514
104response to nitrosative stress (GO:0051409)3.40860410
105NAD biosynthetic process (GO:0009435)3.40069675
106cholesterol homeostasis (GO:0042632)3.39015925
107regulation of cholesterol metabolic process (GO:0090181)3.37916485
108nicotinamide nucleotide biosynthetic process (GO:0019359)3.35953094
109pyridine nucleotide biosynthetic process (GO:0019363)3.35953094
110negative regulation of lipase activity (GO:0060192)3.35688106
111platelet dense granule organization (GO:0060155)3.35475874
112regulation of cilium movement (GO:0003352)3.34829272
113epithelial cilium movement (GO:0003351)3.32876223
114sterol homeostasis (GO:0055092)3.32690857
115regulation of plasminogen activation (GO:0010755)3.29778793
116lipoprotein metabolic process (GO:0042157)3.29769969
117acetyl-CoA metabolic process (GO:0006084)3.29431396
118mannosylation (GO:0097502)3.22871009
119protein complex biogenesis (GO:0070271)3.21335434
120cilium morphogenesis (GO:0060271)3.21235812
121protein localization to cilium (GO:0061512)3.20285251
122nucleotide transmembrane transport (GO:1901679)3.19098657
123cytochrome complex assembly (GO:0017004)3.15690056
124detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.14444234
125nonmotile primary cilium assembly (GO:0035058)3.12925588
126GPI anchor metabolic process (GO:0006505)3.07949983
127C-terminal protein lipidation (GO:0006501)3.06201071
128negative regulation of mast cell activation (GO:0033004)3.05552950
129neural tube formation (GO:0001841)2.98030974
1303-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.96653710
131purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.96653710
132nephron tubule morphogenesis (GO:0072078)2.93207078
133nephron epithelium morphogenesis (GO:0072088)2.93207078
134protein-cofactor linkage (GO:0018065)2.91370171
135cilium movement (GO:0003341)2.89899651
136fucosylation (GO:0036065)2.89481125
137transepithelial transport (GO:0070633)2.88684345
138mitochondrial respiratory chain complex I assembly (GO:0032981)2.86341756
139NADH dehydrogenase complex assembly (GO:0010257)2.86341756
140mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.86341756
141C-terminal protein amino acid modification (GO:0018410)2.85669483
142mitochondrial respiratory chain complex assembly (GO:0033108)2.85028601
143photoreceptor cell development (GO:0042461)2.84824030
144regulation of cytokine production involved in inflammatory response (GO:1900015)2.83064214
145synaptic transmission, cholinergic (GO:0007271)2.78404686
146GPI anchor biosynthetic process (GO:0006506)2.74149419
147L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72924948
148adaptation of signaling pathway (GO:0023058)2.71910534
149signal peptide processing (GO:0006465)2.71288639
150kidney morphogenesis (GO:0060993)2.69845082
151positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.69290423
152S-adenosylmethionine metabolic process (GO:0046500)2.68806851
153neuron fate determination (GO:0048664)2.68469331
154cilium or flagellum-dependent cell motility (GO:0001539)2.67334040
155peristalsis (GO:0030432)2.66672098
156inositol phosphate catabolic process (GO:0071545)2.66268468
157rRNA methylation (GO:0031167)2.65346925
158negative regulation of telomere maintenance (GO:0032205)2.65227066
159photoreceptor cell maintenance (GO:0045494)2.65133241
160auditory receptor cell differentiation (GO:0042491)2.64317256
161regulation of neurotransmitter uptake (GO:0051580)2.63632577
162eye photoreceptor cell development (GO:0042462)2.63462398
163response to pheromone (GO:0019236)2.62801284
164regulation of action potential (GO:0098900)2.62481764
165protein import into peroxisome matrix (GO:0016558)2.62124780
166glycerophospholipid catabolic process (GO:0046475)2.61925919
167regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.58151697
168spinal cord motor neuron differentiation (GO:0021522)2.57632053
169mitotic cell cycle arrest (GO:0071850)2.56295266
170cilium organization (GO:0044782)2.56179381
171polyol catabolic process (GO:0046174)2.54172609
172regulation of hexokinase activity (GO:1903299)2.53547574
173regulation of glucokinase activity (GO:0033131)2.53547574
174auditory receptor cell stereocilium organization (GO:0060088)2.51504287
175regulation of heat generation (GO:0031650)2.51152154
176negative regulation of cell aging (GO:0090344)2.50182562
177cilium assembly (GO:0042384)2.48672960
178regulation of skeletal muscle contraction (GO:0014819)2.47428602
179L-methionine salvage (GO:0071267)2.45780083
180L-methionine biosynthetic process (GO:0071265)2.45780083
181amino acid salvage (GO:0043102)2.45780083
182positive regulation of heat generation (GO:0031652)2.43531734
183embryonic epithelial tube formation (GO:0001838)2.42874426
184central nervous system myelination (GO:0022010)2.42190094
185axon ensheathment in central nervous system (GO:0032291)2.42190094
186piRNA metabolic process (GO:0034587)2.42048401
187phosphorylated carbohydrate dephosphorylation (GO:0046838)2.41484859
188inositol phosphate dephosphorylation (GO:0046855)2.41484859
189inner ear receptor stereocilium organization (GO:0060122)2.40857831
190anterograde synaptic vesicle transport (GO:0048490)2.40728020
191sulfation (GO:0051923)2.40397509
192peptidyl-histidine modification (GO:0018202)2.39658361
193regulation of microtubule-based movement (GO:0060632)2.39424903

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.58956508
2* EGR1_23403033_ChIP-Seq_LIVER_Mouse6.61516724
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.41355230
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.77640452
5CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.22584336
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.00014367
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.58861084
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.15798598
9ZNF274_21170338_ChIP-Seq_K562_Hela3.99490136
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.40102948
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.70736066
12VDR_22108803_ChIP-Seq_LS180_Human2.50777111
13GBX2_23144817_ChIP-Seq_PC3_Human2.47949464
14* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.47165919
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42259289
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.21237875
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18133151
18HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.15423868
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.13140849
20EWS_26573619_Chip-Seq_HEK293_Human2.06865295
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.02254240
22EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human2.01242466
23ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.9392581
24IGF1R_20145208_ChIP-Seq_DFB_Human1.94218472
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92538134
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.89701360
27TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.89084026
28NOTCH1_21737748_ChIP-Seq_TLL_Human1.81930213
29CLOCK_20551151_ChIP-Seq_293T_Human1.81897448
30STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.81364314
31FUS_26573619_Chip-Seq_HEK293_Human1.81298653
32FLI1_27457419_Chip-Seq_LIVER_Mouse1.81135722
33PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.78811154
34TP53_22573176_ChIP-Seq_HFKS_Human1.78072327
35HTT_18923047_ChIP-ChIP_STHdh_Human1.75331667
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.71020166
37ER_23166858_ChIP-Seq_MCF-7_Human1.64165495
38EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.60951993
39P300_19829295_ChIP-Seq_ESCs_Human1.58971794
40GATA1_22025678_ChIP-Seq_K562_Human1.49216136
41TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.46001517
42FOXA1_25329375_ChIP-Seq_VCAP_Human1.45581327
43FOXA1_27270436_Chip-Seq_PROSTATE_Human1.45581327
44EST1_17652178_ChIP-ChIP_JURKAT_Human1.43944749
45RARG_19884340_ChIP-ChIP_MEFs_Mouse1.43367914
46PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.42526509
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41759730
48IRF8_22096565_ChIP-ChIP_GC-B_Human1.41260866
49PCGF2_27294783_Chip-Seq_ESCs_Mouse1.41142467
50VDR_23849224_ChIP-Seq_CD4+_Human1.39072285
51MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37241382
52GATA3_21878914_ChIP-Seq_MCF-7_Human1.32882112
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.32786270
54BCAT_22108803_ChIP-Seq_LS180_Human1.31791403
55TRIM28_21343339_ChIP-Seq_HEK293_Human1.30441810
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.29858663
57CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.27050952
58AR_25329375_ChIP-Seq_VCAP_Human1.25641652
59JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.24545653
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24364899
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.23939561
62CBP_20019798_ChIP-Seq_JUKART_Human1.23939561
63UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21443532
64EZH2_22144423_ChIP-Seq_EOC_Human1.21196561
65FOXA2_19822575_ChIP-Seq_HepG2_Human1.21032815
66HNF4A_19822575_ChIP-Seq_HepG2_Human1.19972076
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.19312864
68SMAD4_21799915_ChIP-Seq_A2780_Human1.18115576
69HOXB7_26014856_ChIP-Seq_BT474_Human1.16652199
70FOXA1_21572438_ChIP-Seq_LNCaP_Human1.16392559
71ERA_21632823_ChIP-Seq_H3396_Human1.16357581
72SALL1_21062744_ChIP-ChIP_HESCs_Human1.16045389
73GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.15562630
74NRF2_20460467_ChIP-Seq_MEFs_Mouse1.15430794
75NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.15430794
76MYC_19829295_ChIP-Seq_ESCs_Human1.15403417
77ETV2_25802403_ChIP-Seq_MESCs_Mouse1.14954667
78SUZ12_27294783_Chip-Seq_NPCs_Mouse1.14625983
79ELF1_17652178_ChIP-ChIP_JURKAT_Human1.14436505
80NR3C1_21868756_ChIP-Seq_MCF10A_Human1.14354986
81SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.13000896
82REST_21632747_ChIP-Seq_MESCs_Mouse1.12572990
83STAT3_23295773_ChIP-Seq_U87_Human1.10651616
84SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10166100
85BMI1_23680149_ChIP-Seq_NPCS_Mouse1.10050777
86STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.08241400
87IKZF1_21737484_ChIP-ChIP_HCT116_Human1.08196243
88NFE2_27457419_Chip-Seq_LIVER_Mouse1.07882552
89* ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06567020
90ELK1_19687146_ChIP-ChIP_HELA_Human1.06491576
91MYC_18940864_ChIP-ChIP_HL60_Human1.05611390
92THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.04710427
93MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.04086054
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03906611
95SMAD4_21741376_ChIP-Seq_EPCs_Human1.03140086
96NANOG_20526341_ChIP-Seq_ESCs_Human1.02833942
97RXRA_24833708_ChIP-Seq_LIVER_Mouse1.02289328
98KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02244774
99PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02097176
100PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01574858
101TCF4_23295773_ChIP-Seq_U87_Human1.00121417
102SRF_21415370_ChIP-Seq_HL-1_Mouse0.99773925
103BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.99624189
104TCF4_22108803_ChIP-Seq_LS180_Human0.99436083
105SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.97397246
106CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.97300683
107ETS1_20019798_ChIP-Seq_JURKAT_Human0.97237036
108SMAD3_21741376_ChIP-Seq_EPCs_Human0.97002377
109P53_21459846_ChIP-Seq_SAOS-2_Human0.96956146
110CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.94900090
111RUNX2_22187159_ChIP-Seq_PCA_Human0.94777343
112FLI1_21867929_ChIP-Seq_TH2_Mouse0.94436903
113EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.93275714
114TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91866456
115EZH2_27294783_Chip-Seq_NPCs_Mouse0.91529644
116Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.91198478
117SALL4_18804426_ChIP-ChIP_XEN_Mouse0.90581462
118PRDM14_20953172_ChIP-Seq_ESCs_Human0.90391927
119EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.90382728
120IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.90366420
121SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89678104
122PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.87612900
123P53_22387025_ChIP-Seq_ESCs_Mouse0.87388630
124GATA4_25053715_ChIP-Seq_YYC3_Human0.85520040
125RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.85273979
126SOX2_27498859_Chip-Seq_STOMACH_Mouse0.83479461
127KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.82716129
128KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78154668
129E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.77247525
130IRF1_19129219_ChIP-ChIP_H3396_Human0.77149772
131* SOX2_20726797_ChIP-Seq_SW620_Human0.76887941
132AR_20517297_ChIP-Seq_VCAP_Human0.76804301
133NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.75780387
134IRF8_21731497_ChIP-ChIP_J774_Mouse0.73403000
135AUTS2_25519132_ChIP-Seq_293T-REX_Human0.71033106
136ESR1_21235772_ChIP-Seq_MCF-7_Human0.69435324
137BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.68479405
138RAD21_21589869_ChIP-Seq_MESCs_Mouse0.67489330
139PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.65894644
140FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.63521873
141RARA_24833708_ChIP-Seq_LIVER_Mouse0.63447571
142* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.63024813
143AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.61927319
144SOX17_20123909_ChIP-Seq_XEN_Mouse0.58233993
145BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.57990129
146ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.56804417
147PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.56751760
148PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.55770591
149STAT1_17558387_ChIP-Seq_HELA_Human0.54550718
150CBP_21632823_ChIP-Seq_H3396_Human0.54505758
151PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.53638010
152MYC_19915707_ChIP-ChIP_AK7_Human0.52821059
153RARB_24833708_ChIP-Seq_LIVER_Mouse0.52326471
154SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.52240176
155EGR1_19032775_ChIP-ChIP_M12_Human0.51558381
156IRF8_27001747_Chip-Seq_BMDM_Mouse0.51255323
157FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.50951904
158TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.50904248
159ESR1_20079471_ChIP-ChIP_T-47D_Human0.50295646
160LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.49337091
161CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.48462371
162IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.48339946
163ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.47520390
164ESR2_21235772_ChIP-Seq_MCF-7_Human0.47342279
165CRX_20693478_ChIP-Seq_RETINA_Mouse0.47297349
166ERG_20517297_ChIP-Seq_VCAP_Human0.46856382
167SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.46750695
168SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.46634875
169TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.46162492
170TAF15_26573619_Chip-Seq_HEK293_Human0.45998234
171CEBPB_22108803_ChIP-Seq_LS180_Human0.45656127
172NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.45563651
173OCT4_20526341_ChIP-Seq_ESCs_Human0.45201058
174CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.44848985
175ESET_19884257_ChIP-Seq_ESCs_Mouse0.44298148
176SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.43490049
177CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.43283565
178NCOR_22424771_ChIP-Seq_293T_Human0.42076347
179ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.41875273
180* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.41786805
181SOX2_19829295_ChIP-Seq_ESCs_Human0.41310209
182NANOG_19829295_ChIP-Seq_ESCs_Human0.41310209
183TAF2_19829295_ChIP-Seq_ESCs_Human0.41181164
184SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.41148324

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.01242776
2MP0005360_urolithiasis6.60591531
3MP0005085_abnormal_gallbladder_physiolo5.95330151
4MP0005365_abnormal_bile_salt5.84757301
5MP0008875_abnormal_xenobiotic_pharmacok4.73172186
6MP0003806_abnormal_nucleotide_metabolis4.51116975
7MP0003252_abnormal_bile_duct3.67344633
8MP0009840_abnormal_foam_cell3.31418221
9MP0003195_calcinosis3.22146978
10MP0010329_abnormal_lipoprotein_level3.20454843
11MP0002837_dystrophic_cardiac_calcinosis3.19972405
12MP0005083_abnormal_biliary_tract2.91877835
13MP0003136_yellow_coat_color2.90466989
14MP0005171_absent_coat_pigmentation2.73897060
15MP0002638_abnormal_pupillary_reflex2.73396914
16MP0001986_abnormal_taste_sensitivity2.69458539
17MP0005332_abnormal_amino_acid2.68601547
18MP0001666_abnormal_nutrient_absorption2.55117276
19MP0003191_abnormal_cellular_cholesterol2.48429771
20MP0005551_abnormal_eye_electrophysiolog2.45525788
21MP0001968_abnormal_touch/_nociception2.34271169
22MP0005174_abnormal_tail_pigmentation2.31550609
23MP0004043_abnormal_pH_regulation2.27252318
24MP0006072_abnormal_retinal_apoptosis2.09496060
25MP0005645_abnormal_hypothalamus_physiol2.05917839
26MP0002102_abnormal_ear_morphology2.03346607
27MP0002118_abnormal_lipid_homeostasis1.99004162
28MP0004019_abnormal_vitamin_homeostasis1.98368009
29MP0005253_abnormal_eye_physiology1.95834727
30MP0003186_abnormal_redox_activity1.95588965
31MP0002138_abnormal_hepatobiliary_system1.93182051
32MP0000609_abnormal_liver_physiology1.89753834
33MP0010386_abnormal_urinary_bladder1.89423385
34MP0005423_abnormal_somatic_nervous1.85901410
35MP0001764_abnormal_homeostasis1.84866359
36MP0005646_abnormal_pituitary_gland1.80900653
37MP0009697_abnormal_copulation1.78013396
38MP0003868_abnormal_feces_composition1.75917873
39MP0005319_abnormal_enzyme/_coenzyme1.72480496
40MP0002736_abnormal_nociception_after1.70625087
41MP0005451_abnormal_body_composition1.66670080
42MP0004142_abnormal_muscle_tone1.66569034
43MP0004885_abnormal_endolymph1.64570203
44MP0001984_abnormal_olfaction1.61801842
45MP0008872_abnormal_physiological_respon1.61411415
46MP0002909_abnormal_adrenal_gland1.61062504
47MP0005379_endocrine/exocrine_gland_phen1.57705230
48MP0008877_abnormal_DNA_methylation1.56935113
49MP0002653_abnormal_ependyma_morphology1.56769103
50MP0005584_abnormal_enzyme/coenzyme_acti1.56016034
51MP0000427_abnormal_hair_cycle1.49746927
52MP0009745_abnormal_behavioral_response1.48208529
53MP0004133_heterotaxia1.48204874
54MP0004147_increased_porphyrin_level1.47809926
55MP0001905_abnormal_dopamine_level1.47543098
56MP0003011_delayed_dark_adaptation1.39011794
57MP0001502_abnormal_circadian_rhythm1.38993432
58MP0008438_abnormal_cutaneous_collagen1.37879040
59MP0001188_hyperpigmentation1.34890261
60MP0005408_hypopigmentation1.34298128
61MP0000631_abnormal_neuroendocrine_gland1.33688122
62MP0000013_abnormal_adipose_tissue1.32990328
63MP0003787_abnormal_imprinting1.32730507
64MP0001970_abnormal_pain_threshold1.31181091
65MP0009643_abnormal_urine_homeostasis1.30094420
66MP0005058_abnormal_lysosome_morphology1.29806626
67MP0005167_abnormal_blood-brain_barrier1.28029300
68MP0003656_abnormal_erythrocyte_physiolo1.27706054
69MP0009780_abnormal_chondrocyte_physiolo1.26200064
70MP0001944_abnormal_pancreas_morphology1.24257559
71MP0009046_muscle_twitch1.22353014
72MP0003880_abnormal_central_pattern1.21425776
73MP0000383_abnormal_hair_follicle1.19749516
74MP0002163_abnormal_gland_morphology1.19298087
75MP0002735_abnormal_chemical_nociception1.19151406
76MP0006276_abnormal_autonomic_nervous1.17054908
77MP0001501_abnormal_sleep_pattern1.15436066
78MP0001873_stomach_inflammation1.14868626
79MP0002272_abnormal_nervous_system1.14332953
80MP0009764_decreased_sensitivity_to1.13661722
81MP0002693_abnormal_pancreas_physiology1.13565496
82MP0001324_abnormal_eye_pigmentation1.13097251
83MP0000604_amyloidosis1.11739389
84MP0000598_abnormal_liver_morphology1.10133367
85MP0002876_abnormal_thyroid_physiology1.06629483
86MP0004924_abnormal_behavior1.06560392
87MP0005386_behavior/neurological_phenoty1.06560392
88MP0003690_abnormal_glial_cell1.06393235
89MP0000372_irregular_coat_pigmentation1.04557449
90MP0002572_abnormal_emotion/affect_behav1.04268112
91MP0005195_abnormal_posterior_eye1.03608713
92MP0008469_abnormal_protein_level1.02502807
93MP0005084_abnormal_gallbladder_morpholo1.02030753
94MP0005220_abnormal_exocrine_pancreas1.01744827
95MP0010368_abnormal_lymphatic_system1.00468537
96MP0009763_increased_sensitivity_to0.99364422
97MP0002938_white_spotting0.98614080
98MP0002733_abnormal_thermal_nociception0.98155408
99MP0002751_abnormal_autonomic_nervous0.97204769
100MP0002064_seizures0.96703322
101MP0000569_abnormal_digit_pigmentation0.95489106
102MP0003724_increased_susceptibility_to0.95030692
103MP0001486_abnormal_startle_reflex0.94721713
104MP0005636_abnormal_mineral_homeostasis0.94164528
105MP0005647_abnormal_sex_gland0.93666888
106MP0004215_abnormal_myocardial_fiber0.93158476
107MP0002822_catalepsy0.93101037
108MP0005376_homeostasis/metabolism_phenot0.93079134
109MP0001919_abnormal_reproductive_system0.90343688
110MP0003283_abnormal_digestive_organ0.90321070
111MP0005075_abnormal_melanosome_morpholog0.89360543
112MP0001765_abnormal_ion_homeostasis0.89306588
113MP0003137_abnormal_impulse_conducting0.89203196
114MP0000015_abnormal_ear_pigmentation0.89007126
115MP0003646_muscle_fatigue0.88036370
116MP0000026_abnormal_inner_ear0.86527387
117MP0009053_abnormal_anal_canal0.85739274
118MP0002557_abnormal_social/conspecific_i0.85486395
119MP0005389_reproductive_system_phenotype0.84596375
120MP0009642_abnormal_blood_homeostasis0.84196755
121MP0002160_abnormal_reproductive_system0.83954547
122MP0001485_abnormal_pinna_reflex0.83657857
123MP0002095_abnormal_skin_pigmentation0.83425857
124MP0001664_abnormal_digestion0.82740136
125MP0005367_renal/urinary_system_phenotyp0.80832636
126MP0000516_abnormal_urinary_system0.80832636
127MP0009384_cardiac_valve_regurgitation0.79628702
128MP0006036_abnormal_mitochondrial_physio0.78305344
129MP0002254_reproductive_system_inflammat0.77106676
130MP0003705_abnormal_hypodermis_morpholog0.77085261
131MP0010678_abnormal_skin_adnexa0.76452105
132MP0009765_abnormal_xenobiotic_induced0.73401673
133MP0004782_abnormal_surfactant_physiolog0.71983699
134MP0006082_CNS_inflammation0.70345200
135MP0001756_abnormal_urination0.68877025
136MP0002295_abnormal_pulmonary_circulatio0.67732315
137MP0001661_extended_life_span0.67178301
138MP0000639_abnormal_adrenal_gland0.66798225
139MP0005670_abnormal_white_adipose0.66191144
140MP0002078_abnormal_glucose_homeostasis0.65465266
141MP0005164_abnormal_response_to0.65205423
142MP0005266_abnormal_metabolism0.61374939
143MP0005503_abnormal_tendon_morphology0.61225532
144MP0002090_abnormal_vision0.59746725
145MP0005395_other_phenotype0.59024403
146MP0004883_abnormal_blood_vessel0.58751409
147MP0001243_abnormal_dermal_layer0.57928466
148MP0003718_maternal_effect0.57750971
149MP0003436_decreased_susceptibility_to0.57667232
150MP0003329_amyloid_beta_deposits0.55622288
151MP0001542_abnormal_bone_strength0.55516007
152MP0005535_abnormal_body_temperature0.54427217
153MP0005464_abnormal_platelet_physiology0.54054956
154MP0003075_altered_response_to0.53266150
155MP0005334_abnormal_fat_pad0.50920418
156MP0002136_abnormal_kidney_physiology0.46938523
157MP0008873_increased_physiological_sensi0.46587456
158MP0006035_abnormal_mitochondrial_morpho0.46549469
159MP0003638_abnormal_response/metabolism_0.46320333
160MP0001533_abnormal_skeleton_physiology0.45217221
161MP0002419_abnormal_innate_immunity0.44475472
162MP0000920_abnormal_myelination0.43451357
163MP0002971_abnormal_brown_adipose0.43312082
164MP0005248_abnormal_Harderian_gland0.43295507
165MP0000230_abnormal_systemic_arterial0.43002786
166MP0002928_abnormal_bile_duct0.42897276
167MP0003172_abnormal_lysosome_physiology0.41471100
168MP0005448_abnormal_energy_balance0.41030521
169MP0000249_abnormal_blood_vessel0.40363268
170MP0002168_other_aberrant_phenotype0.39822278
171MP0000538_abnormal_urinary_bladder0.39587451
172MP0002132_abnormal_respiratory_system0.39291510
173MP0002060_abnormal_skin_morphology0.38835278
174MP0009785_altered_susceptibility_to0.38595805
175MP0005595_abnormal_vascular_smooth0.38494640
176MP0004381_abnormal_hair_follicle0.37162926
177MP0001845_abnormal_inflammatory_respons0.37033802
178MP0005166_decreased_susceptibility_to0.35628936
179MP0004272_abnormal_basement_membrane0.35369921
180MP0001881_abnormal_mammary_gland0.34972659

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)6.95349331
2Intrahepatic cholestasis (HP:0001406)6.70767759
3Deep venous thrombosis (HP:0002625)6.37808151
4Prolonged partial thromboplastin time (HP:0003645)6.17771057
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.09112076
6Hypobetalipoproteinemia (HP:0003563)5.78106172
7Xanthomatosis (HP:0000991)5.72158411
8Hyperlipoproteinemia (HP:0010980)5.03844224
9Complement deficiency (HP:0004431)4.96671704
10Congenital stationary night blindness (HP:0007642)4.60267868
11Joint hemorrhage (HP:0005261)4.42715606
12Pancreatic cysts (HP:0001737)4.38597670
13Abnormality of methionine metabolism (HP:0010901)4.35095746
14Hypolipoproteinemia (HP:0010981)4.30701078
15Abnormality of the common coagulation pathway (HP:0010990)4.12163172
16Abnormality of aspartate family amino acid metabolism (HP:0010899)4.09468094
17Fat malabsorption (HP:0002630)4.08437372
18Hyperammonemia (HP:0001987)4.07717838
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.01470186
20Pancreatic fibrosis (HP:0100732)3.99572613
21Attenuation of retinal blood vessels (HP:0007843)3.99199621
22Abnormality of midbrain morphology (HP:0002418)3.95906249
23Molar tooth sign on MRI (HP:0002419)3.95906249
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.94585424
25Abnormality of the intrinsic pathway (HP:0010989)3.89484509
26True hermaphroditism (HP:0010459)3.83173190
27Epidermoid cyst (HP:0200040)3.81645810
28Nephronophthisis (HP:0000090)3.78610231
29Abnormality of glutamine family amino acid metabolism (HP:0010902)3.75409610
30Conjugated hyperbilirubinemia (HP:0002908)3.72815308
31Hypoalphalipoproteinemia (HP:0003233)3.71661193
32Ketosis (HP:0001946)3.70251559
33Hyperglycinemia (HP:0002154)3.70110623
34Abnormality of complement system (HP:0005339)3.61146077
35Hypoglycemic coma (HP:0001325)3.60201105
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.55673693
37Systemic lupus erythematosus (HP:0002725)3.51699598
38Abnormality of pyrimidine metabolism (HP:0004353)3.47800932
39Abnormality of fatty-acid metabolism (HP:0004359)3.47683951
40Abnormality of serine family amino acid metabolism (HP:0010894)3.39921328
41Abnormality of glycine metabolism (HP:0010895)3.39921328
42Steatorrhea (HP:0002570)3.38934443
43Hyperglycinuria (HP:0003108)3.35527042
44Abnormality of the renal medulla (HP:0100957)3.27974398
45Medial flaring of the eyebrow (HP:0010747)3.13905870
46Hyperbilirubinemia (HP:0002904)3.12903678
47Abnormality of the renal cortex (HP:0011035)3.12738771
48Methylmalonic acidemia (HP:0002912)3.05967558
49Hypercholesterolemia (HP:0003124)3.04429399
50Abnormality of serum amino acid levels (HP:0003112)2.93887539
51Delayed CNS myelination (HP:0002188)2.90030530
52Polydipsia (HP:0001959)2.86706921
53Abnormal drinking behavior (HP:0030082)2.86706921
54Large for gestational age (HP:0001520)2.82806436
55Cystic liver disease (HP:0006706)2.82137303
56Abnormality of nucleobase metabolism (HP:0010932)2.80685019
57Tubular atrophy (HP:0000092)2.76510981
58Generalized aminoaciduria (HP:0002909)2.75972140
59Methylmalonic aciduria (HP:0012120)2.75018345
60Glomerulonephritis (HP:0000099)2.74796904
61Dicarboxylic aciduria (HP:0003215)2.73079583
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.73079583
63Ketoacidosis (HP:0001993)2.70959619
64Type II lissencephaly (HP:0007260)2.70624899
65Decreased central vision (HP:0007663)2.70612808
66Lethargy (HP:0001254)2.67676165
67Hepatocellular carcinoma (HP:0001402)2.67137000
68Opisthotonus (HP:0002179)2.65383813
69Metabolic acidosis (HP:0001942)2.62604961
70Lipid accumulation in hepatocytes (HP:0006561)2.60453193
71Myocardial infarction (HP:0001658)2.59514130
72Increased hepatocellular lipid droplets (HP:0006565)2.58185226
73Cerebral edema (HP:0002181)2.58080804
74Skin nodule (HP:0200036)2.56691770
75Cholecystitis (HP:0001082)2.56364302
76Abnormal gallbladder physiology (HP:0012438)2.56364302
77Decreased electroretinogram (ERG) amplitude (HP:0000654)2.56165715
78Chronic hepatic failure (HP:0100626)2.56141170
79Mitral stenosis (HP:0001718)2.53993113
80Rib fusion (HP:0000902)2.53443013
81Abolished electroretinogram (ERG) (HP:0000550)2.52179272
82Hypoalbuminemia (HP:0003073)2.49306790
83Abnormal albumin level (HP:0012116)2.49306790
84Abnormal rod and cone electroretinograms (HP:0008323)2.48912046
85Mitochondrial inheritance (HP:0001427)2.47395592
86Mesangial abnormality (HP:0001966)2.47368774
87Abnormality of purine metabolism (HP:0004352)2.47127062
88Spontaneous abortion (HP:0005268)2.45548929
89Amyloidosis (HP:0011034)2.44189771
90Gait imbalance (HP:0002141)2.44092753
91Bony spicule pigmentary retinopathy (HP:0007737)2.41192185
92Vascular calcification (HP:0004934)2.41034352
93Nephrogenic diabetes insipidus (HP:0009806)2.40307327
94Congenital primary aphakia (HP:0007707)2.39828560
95Hypoglycemic seizures (HP:0002173)2.38903999
96Chorioretinal atrophy (HP:0000533)2.37751194
97Increased CSF lactate (HP:0002490)2.35493878
98Renal Fanconi syndrome (HP:0001994)2.33725185
99Brushfield spots (HP:0001088)2.30725130
100Congenital hepatic fibrosis (HP:0002612)2.30598635
101Abnormal gallbladder morphology (HP:0012437)2.26592926
102Abnormality of alanine metabolism (HP:0010916)2.26250542
103Hyperalaninemia (HP:0003348)2.26250542
104Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.26250542
105Irritability (HP:0000737)2.24721477
106Pendular nystagmus (HP:0012043)2.24712110
107Enlarged kidneys (HP:0000105)2.23215063
108Polyuria (HP:0000103)2.22903792
109Hemiparesis (HP:0001269)2.22213016
110Cardiovascular calcification (HP:0011915)2.22032088
111Congenital sensorineural hearing impairment (HP:0008527)2.21457105
112Recurrent gram-negative bacterial infections (HP:0005420)2.21182041
113Abnormality of vitamin B metabolism (HP:0004340)2.17952266
114Vomiting (HP:0002013)2.17570988
115Decreased circulating renin level (HP:0003351)2.17468127
116Acute necrotizing encephalopathy (HP:0006965)2.12864363
117Progressive macrocephaly (HP:0004481)2.12809866
118Abnormality of urine glucose concentration (HP:0011016)2.12078023
119Glycosuria (HP:0003076)2.12078023
120Gout (HP:0001997)2.11632049
121Pancreatitis (HP:0001733)2.10837784
122Optic disc pallor (HP:0000543)2.10153661
123Increased serum pyruvate (HP:0003542)2.10089847
124Abnormality of glycolysis (HP:0004366)2.10089847
125Testicular atrophy (HP:0000029)2.09755957
126Absent speech (HP:0001344)2.08466736
127Hyperventilation (HP:0002883)2.08335294
128Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.05642709
129Cholelithiasis (HP:0001081)2.05578852
130Cerebellar dysplasia (HP:0007033)2.04413342
131Abnormal respiratory epithelium morphology (HP:0012253)2.04110143
132Abnormal respiratory motile cilium morphology (HP:0005938)2.04110143
133Sensorimotor neuropathy (HP:0007141)2.02855250
134Furrowed tongue (HP:0000221)2.02765682
135Late onset (HP:0003584)2.01797048
136Gingival bleeding (HP:0000225)2.01689920
137Hypothermia (HP:0002045)2.01586107
138Proximal tubulopathy (HP:0000114)1.99796986
139Abnormal biliary tract physiology (HP:0012439)1.97679905
140Bile duct proliferation (HP:0001408)1.97679905
141Hypochromic microcytic anemia (HP:0004840)1.96928591
142Abnormality of the pons (HP:0007361)1.96898413
143Epiphyseal stippling (HP:0010655)1.96724242
144Tachypnea (HP:0002789)1.95150896
145Progressive inability to walk (HP:0002505)1.94874616
146Aplasia/Hypoplasia of the tongue (HP:0010295)1.94154921
147Abnormality of the gallbladder (HP:0005264)1.93294172
148Male pseudohermaphroditism (HP:0000037)1.93070665
149Hydroxyprolinuria (HP:0003080)1.92952148
150Abnormality of proline metabolism (HP:0010907)1.92952148
151Polyphagia (HP:0002591)1.92174656
152Anencephaly (HP:0002323)1.91803279
153Hepatocellular necrosis (HP:0001404)1.91518534
154Gaze-evoked nystagmus (HP:0000640)1.91496843
155Esophageal varix (HP:0002040)1.90437610
156Type I transferrin isoform profile (HP:0003642)1.90221656
157Sclerocornea (HP:0000647)1.90124667
158Abnormal enzyme/coenzyme activity (HP:0012379)1.89739949
159Inability to walk (HP:0002540)1.89483716
160Spastic diplegia (HP:0001264)1.88826366
161Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.88383846
162Abnormal protein N-linked glycosylation (HP:0012347)1.88383846
163Abnormal protein glycosylation (HP:0012346)1.88383846
164Abnormal glycosylation (HP:0012345)1.88383846
165Patellar aplasia (HP:0006443)1.87651309
166Genital tract atresia (HP:0001827)1.87427056
167Postaxial foot polydactyly (HP:0001830)1.87022585
168Dyschromatopsia (HP:0007641)1.85700620
169Acute encephalopathy (HP:0006846)1.85236279
170Hepatic necrosis (HP:0002605)1.85072755
171Hypoplasia of the pons (HP:0012110)1.84940866
172Symptomatic seizures (HP:0011145)1.84226043
173Thrombophlebitis (HP:0004418)1.84003686
174Malnutrition (HP:0004395)1.83719446
175Elevated hepatic transaminases (HP:0002910)1.83371489
176Renal cortical cysts (HP:0000803)1.82896940
177Hypophosphatemic rickets (HP:0004912)1.82728574
178Abnormal ciliary motility (HP:0012262)1.82112244
179Acanthocytosis (HP:0001927)1.81533882
180Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.80784040
181Aplasia/Hypoplasia of the patella (HP:0006498)1.79768666
182Elevated alkaline phosphatase (HP:0003155)1.79331656
183Abnormal urine output (HP:0012590)1.79318761
184Vaginal atresia (HP:0000148)1.79176516
185Postaxial hand polydactyly (HP:0001162)1.78438484
186Menorrhagia (HP:0000132)1.78296473
187Lissencephaly (HP:0001339)1.77993134
188Facial diplegia (HP:0001349)1.77327620
189Rickets (HP:0002748)1.76650547
190Prolonged neonatal jaundice (HP:0006579)1.76480395
191Neonatal onset (HP:0003623)1.76173622
192Nausea (HP:0002018)1.75853639
193Increased serum lactate (HP:0002151)1.74943622
194Aplasia/Hypoplasia involving the musculature (HP:0001460)1.74443038

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.51051995
2ERN14.40452156
3STK163.20132480
4FGFR43.10060715
5SIK12.97923482
6ERBB42.77264802
7PBK2.62283481
8MAP4K22.60198328
9WNK42.59165003
10ACVR1B2.55458488
11INSRR2.54616459
12WNK32.52130171
13TLK12.42478569
14MAP3K142.06314750
15TAOK31.93335568
16PIK3CG1.80548518
17FLT31.77349953
18NEK91.74395821
19MAP3K41.72940438
20TXK1.70903988
21MST1R1.53111971
22DAPK21.49600563
23MAP2K61.48824288
24TYK21.47768758
25MET1.45662198
26PAK31.45390480
27MAP2K71.43384699
28KDR1.43374942
29TBK11.42349705
30TRIM281.40266951
31STK38L1.36883417
32PIM21.35283505
33MAPK151.33640078
34IRAK31.33321759
35PHKG21.32127807
36PHKG11.32127807
37MAPK131.31289339
38TGFBR11.31244027
39ABL21.30699698
40TGFBR21.22113530
41ADRBK11.21681895
42EPHB11.19379989
43MUSK1.19208498
44BMPR1B1.17025860
45MST41.16158509
46MYLK1.15826510
47MARK11.11409143
48MAP3K31.11042089
49BCR1.09612644
50EIF2AK31.09059881
51NME21.08818685
52EPHA31.07618508
53AKT31.06990326
54EPHA21.05631544
55MAP2K31.03902243
56MAP2K41.01972168
57ERBB31.01464041
58BLK1.00619391
59LMTK20.97380313
60MAPK110.96436367
61OXSR10.91615861
62FRK0.90394478
63CAMK2G0.89550911
64PRKCG0.87684748
65DYRK20.86954540
66TIE10.86473291
67VRK10.84945670
68EPHA40.78195376
69JAK10.75663480
70MAPK40.73943532
71ADRBK20.72218151
72PRPF4B0.71857249
73EIF2AK10.71087391
74CSNK1G20.69231265
75BMPR20.68998437
76SGK2230.68968239
77SGK4940.68968239
78JAK20.68539981
79ERBB20.66553118
80MAPKAPK30.66184517
81IRAK40.65744316
82NUAK10.65612179
83PKN10.65571334
84MAPKAPK50.65342545
85IRAK10.64514237
86ZAK0.64425526
87PINK10.63880582
88BRAF0.63751424
89CHUK0.63473396
90PRKCI0.61433210
91TAOK20.61055444
92STK110.60554806
93EIF2AK20.60202860
94RPS6KA50.60017555
95YES10.58917284
96FGFR20.58520281
97CSF1R0.56934238
98IGF1R0.56843155
99STK390.55939423
100SIK30.54315730
101GSK3A0.54140091
102CAMK2D0.53548981
103TNK20.53466625
104IKBKB0.53456331
105LATS10.53304688
106CSNK1G30.52700198
107PTK60.52581568
108CSNK1G10.52231385
109PRKACA0.52137186
110LIMK10.51104154
111NEK60.50839207
112KIT0.50172345
113STK30.50156623
114CAMK2A0.49490611
115IRAK20.49445661
116IKBKE0.48569847
117PDK20.47406999
118PRKACG0.47334608
119CSNK1A10.46364829
120MAPK70.45903687
121MAPK120.45798026
122MAP2K10.44750001
123PTK2B0.44739864
124GRK70.43732170
125PKN20.43640155
126CDK80.42804879
127PLK20.41989966
128TNIK0.41576396
129PIK3CA0.41013372
130CAMKK20.39735487
131PRKCA0.39726945
132SGK20.39223460
133PRKAA20.38539528
134PRKCZ0.38436624
135PRKCQ0.38335557
136CSNK1D0.38308708
137NTRK30.38057598
138GRK10.36764389
139ZAP700.36256643
140MKNK20.36090361
141PRKAA10.36037088
142LYN0.35811701
143PRKCD0.34859200
144CAMK10.34663696
145EPHB20.34496628
146PRKCE0.33522328
147FER0.32677667
148CSNK1A1L0.32205030
149PRKCH0.31774269
150PNCK0.31139985
151PRKG10.30624959
152ARAF0.30436122
153CASK0.30193643
154GRK60.29704091
155VRK20.29054349
156OBSCN0.28968535
157MAP3K120.28528768
158ABL10.28254731
159NLK0.27990677

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.16500394
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.55240305
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.11652726
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.88587145
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.80951722
6Complement and coagulation cascades_Homo sapiens_hsa046102.65795385
7Tryptophan metabolism_Homo sapiens_hsa003802.55849975
8Nitrogen metabolism_Homo sapiens_hsa009102.53348325
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.52928819
10Arginine biosynthesis_Homo sapiens_hsa002202.47172732
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.45728400
12Fatty acid degradation_Homo sapiens_hsa000712.40903891
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.40209348
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.39163279
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.33432094
16Peroxisome_Homo sapiens_hsa041462.23977025
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.17549890
18Butanoate metabolism_Homo sapiens_hsa006502.07241512
19Phototransduction_Homo sapiens_hsa047442.04229806
20Chemical carcinogenesis_Homo sapiens_hsa052041.98688669
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.95699071
22Histidine metabolism_Homo sapiens_hsa003401.95507350
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.93866495
24Fatty acid elongation_Homo sapiens_hsa000621.92180135
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.91747169
26Propanoate metabolism_Homo sapiens_hsa006401.88927026
27Fatty acid metabolism_Homo sapiens_hsa012121.86318124
28Sulfur metabolism_Homo sapiens_hsa009201.84758419
29Steroid biosynthesis_Homo sapiens_hsa001001.82320931
30Staphylococcus aureus infection_Homo sapiens_hsa051501.80020636
31Drug metabolism - other enzymes_Homo sapiens_hsa009831.76215104
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.74734565
33PPAR signaling pathway_Homo sapiens_hsa033201.69193617
34Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.63423842
35Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.63265830
36Retinol metabolism_Homo sapiens_hsa008301.61999455
37beta-Alanine metabolism_Homo sapiens_hsa004101.60884788
38Caffeine metabolism_Homo sapiens_hsa002321.57887246
39Phenylalanine metabolism_Homo sapiens_hsa003601.52657630
40Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.52566212
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.51959954
42Selenocompound metabolism_Homo sapiens_hsa004501.51520433
43Tyrosine metabolism_Homo sapiens_hsa003501.44306434
44Folate biosynthesis_Homo sapiens_hsa007901.41625487
452-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.39692605
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.38339561
47Pyruvate metabolism_Homo sapiens_hsa006201.37428417
48Collecting duct acid secretion_Homo sapiens_hsa049661.35932845
49Starch and sucrose metabolism_Homo sapiens_hsa005001.26866111
50Intestinal immune network for IgA production_Homo sapiens_hsa046721.26377673
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.25722207
52Nicotine addiction_Homo sapiens_hsa050331.21264159
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.19844371
54Maturity onset diabetes of the young_Homo sapiens_hsa049501.19818190
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18499939
56Arginine and proline metabolism_Homo sapiens_hsa003301.16589149
57Bile secretion_Homo sapiens_hsa049761.14366143
58Biosynthesis of amino acids_Homo sapiens_hsa012301.12216503
59ABC transporters_Homo sapiens_hsa020101.11663973
60Carbon metabolism_Homo sapiens_hsa012001.10276839
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.06437664
62Fat digestion and absorption_Homo sapiens_hsa049751.05165741
63Vitamin digestion and absorption_Homo sapiens_hsa049771.03609478
64Insulin secretion_Homo sapiens_hsa049111.03478845
65RNA polymerase_Homo sapiens_hsa030201.03101878
66Circadian rhythm_Homo sapiens_hsa047101.02924470
67Huntingtons disease_Homo sapiens_hsa050161.02051774
68Basal transcription factors_Homo sapiens_hsa030220.97704060
69Alzheimers disease_Homo sapiens_hsa050100.97516245
70Taste transduction_Homo sapiens_hsa047420.96671102
71Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.96013629
72Homologous recombination_Homo sapiens_hsa034400.95148155
73Vitamin B6 metabolism_Homo sapiens_hsa007500.94821505
74Glutathione metabolism_Homo sapiens_hsa004800.94782689
75Type I diabetes mellitus_Homo sapiens_hsa049400.94683212
76Fanconi anemia pathway_Homo sapiens_hsa034600.92491601
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.90417801
78Sulfur relay system_Homo sapiens_hsa041220.87028184
79Rheumatoid arthritis_Homo sapiens_hsa053230.83490823
80Cyanoamino acid metabolism_Homo sapiens_hsa004600.80616920
81RNA degradation_Homo sapiens_hsa030180.80471194
82Cardiac muscle contraction_Homo sapiens_hsa042600.79216807
83Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.78171674
84One carbon pool by folate_Homo sapiens_hsa006700.74644080
85Mineral absorption_Homo sapiens_hsa049780.73836262
86Protein export_Homo sapiens_hsa030600.73305531
87Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67474578
88Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.64590280
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64436629
90Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.64210916
91Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63290591
92Metabolic pathways_Homo sapiens_hsa011000.61438287
93Asthma_Homo sapiens_hsa053100.60566987
94Morphine addiction_Homo sapiens_hsa050320.58686991
95Serotonergic synapse_Homo sapiens_hsa047260.58426816
96Pentose phosphate pathway_Homo sapiens_hsa000300.55660409
97Circadian entrainment_Homo sapiens_hsa047130.54488007
98Glycerolipid metabolism_Homo sapiens_hsa005610.53989164
99Allograft rejection_Homo sapiens_hsa053300.53211870
100Lysine degradation_Homo sapiens_hsa003100.51706480
101GABAergic synapse_Homo sapiens_hsa047270.51319668
102Cocaine addiction_Homo sapiens_hsa050300.48892372
103Primary immunodeficiency_Homo sapiens_hsa053400.48409211
104Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.47630207
105SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46777725
106Prion diseases_Homo sapiens_hsa050200.46654809
107Galactose metabolism_Homo sapiens_hsa000520.44940496
108Glutamatergic synapse_Homo sapiens_hsa047240.42236675
109alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42180522
110Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.40912902
111Linoleic acid metabolism_Homo sapiens_hsa005910.38915902
112Salivary secretion_Homo sapiens_hsa049700.38735099
113Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38178927
114Hedgehog signaling pathway_Homo sapiens_hsa043400.36581855
115Glycosaminoglycan degradation_Homo sapiens_hsa005310.35750302
116Autoimmune thyroid disease_Homo sapiens_hsa053200.35621371
117Fructose and mannose metabolism_Homo sapiens_hsa000510.34919296
118Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.34552394
119Fatty acid biosynthesis_Homo sapiens_hsa000610.33446773
120Arachidonic acid metabolism_Homo sapiens_hsa005900.29741708
121Lysosome_Homo sapiens_hsa041420.27161802
122Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.22423570
123Proteasome_Homo sapiens_hsa030500.21109446
124Other glycan degradation_Homo sapiens_hsa005110.20299853
125Oxidative phosphorylation_Homo sapiens_hsa001900.17086290
126Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.13648773
127Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.12843843
128Ether lipid metabolism_Homo sapiens_hsa005650.07996921
129Glycerophospholipid metabolism_Homo sapiens_hsa005640.07255952
130Adipocytokine signaling pathway_Homo sapiens_hsa049200.07025457
131Phagosome_Homo sapiens_hsa041450.01983109
132Regulation of autophagy_Homo sapiens_hsa041400.01834513
133Malaria_Homo sapiens_hsa051440.01471778
134N-Glycan biosynthesis_Homo sapiens_hsa005100.01438171
135Pertussis_Homo sapiens_hsa051330.01331741
136Insulin resistance_Homo sapiens_hsa049310.00728624
137African trypanosomiasis_Homo sapiens_hsa05143-0.0819526
138Sphingolipid metabolism_Homo sapiens_hsa00600-0.0792163
139Legionellosis_Homo sapiens_hsa05134-0.0625412
140Renin-angiotensin system_Homo sapiens_hsa04614-0.0620324
141Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0509198
142Parkinsons disease_Homo sapiens_hsa05012-0.0316906

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