SPTLC1P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to muscle activity (GO:0014850)6.52008839
2regulation of autophagic vacuole assembly (GO:2000785)6.45644443
3positive regulation of synaptic transmission, dopaminergic (GO:0032226)6.15934226
4positive regulation of catecholamine secretion (GO:0033605)6.15129245
5coenzyme catabolic process (GO:0009109)6.01389314
6regulation of phosphoprotein phosphatase activity (GO:0043666)5.78717278
7negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.63710798
8regulation of oxidative stress-induced neuron death (GO:1903203)5.51894843
9AMP metabolic process (GO:0046033)5.45697035
10regulation of vacuole organization (GO:0044088)5.31244373
11ADP metabolic process (GO:0046031)5.30139366
12TOR signaling (GO:0031929)5.23359520
13cellular response to zinc ion (GO:0071294)5.19123441
14motile cilium assembly (GO:0044458)5.05567616
15mRNA cleavage (GO:0006379)4.79911834
16activation of protein kinase B activity (GO:0032148)4.73627331
17cellular response to lithium ion (GO:0071285)4.48411714
18negative regulation of defense response to virus (GO:0050687)4.35718747
19negative regulation of striated muscle cell apoptotic process (GO:0010664)4.17061450
20histone H3-K36 demethylation (GO:0070544)4.08342188
21muscle cell cellular homeostasis (GO:0046716)4.08180183
22multicellular organism reproduction (GO:0032504)4.00349506
23barbed-end actin filament capping (GO:0051016)3.99458942
24tongue development (GO:0043586)3.94262315
25ribosome assembly (GO:0042255)3.83248524
26negative regulation of hydrogen peroxide-induced cell death (GO:1903206)3.75384432
27DNA double-strand break processing (GO:0000729)3.75206645
28heterochromatin organization (GO:0070828)3.68925652
29nucleoside diphosphate biosynthetic process (GO:0009133)3.66427795
30protein localization to cell surface (GO:0034394)3.64383633
31rRNA methylation (GO:0031167)3.57445807
32positive regulation of protein kinase C signaling (GO:0090037)3.51745621
33regulation of phospholipase A2 activity (GO:0032429)3.50884755
34cellular zinc ion homeostasis (GO:0006882)3.48346608
35myofibril assembly (GO:0030239)3.36803220
36regulation of oxidative phosphorylation (GO:0002082)3.35994303
37negative regulation of response to reactive oxygen species (GO:1901032)3.30425596
38cofactor catabolic process (GO:0051187)3.30222492
39radial glial cell differentiation (GO:0060019)3.25973774
40glycogen metabolic process (GO:0005977)3.25621810
41cGMP-mediated signaling (GO:0019934)3.25400437
42peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.24701791
43cellular response to cadmium ion (GO:0071276)3.24322946
44T-helper cell differentiation (GO:0042093)3.21112049
45CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.21112049
46negative regulation of organelle assembly (GO:1902116)3.20286307
47acrosome reaction (GO:0007340)3.20082793
48cellular glucan metabolic process (GO:0006073)3.19844853
49glucan metabolic process (GO:0044042)3.19844853
50negative regulation of homotypic cell-cell adhesion (GO:0034111)3.18766230
51regulation of protein sumoylation (GO:0033233)3.16408089
52regulation of myoblast differentiation (GO:0045661)3.16274878
53regulation of T cell chemotaxis (GO:0010819)3.14886970
54positive regulation of T cell chemotaxis (GO:0010820)3.14886970
55regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.14138732
56regulation of hydrogen peroxide-induced cell death (GO:1903205)3.13909768
57detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.11665059
58C21-steroid hormone biosynthetic process (GO:0006700)3.11400377
59negative regulation of smooth muscle cell proliferation (GO:0048662)3.09701592
60regulation of receptor binding (GO:1900120)3.08866937
61negative regulation of macroautophagy (GO:0016242)3.04877303
62relaxation of smooth muscle (GO:0044557)3.02083560
63mesenchymal-epithelial cell signaling (GO:0060638)3.00517876
64regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.00513623
65reproduction (GO:0000003)2.98870095
66regulation of ARF GTPase activity (GO:0032312)2.98114983
67positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)2.97276343
68cortical actin cytoskeleton organization (GO:0030866)2.95606447
69centriole assembly (GO:0098534)2.92706845
70negative regulation of response to biotic stimulus (GO:0002832)2.90507308
71N-terminal protein amino acid acetylation (GO:0006474)2.90092754
72cellular response to osmotic stress (GO:0071470)2.87574381
73regulation of transforming growth factor beta2 production (GO:0032909)2.86804718
74single fertilization (GO:0007338)2.85744726
75oligosaccharide biosynthetic process (GO:0009312)2.85054381
76myoblast migration (GO:0051451)2.83933586
77regulation of protein kinase C signaling (GO:0090036)2.83821548
78binding of sperm to zona pellucida (GO:0007339)2.83207552
79cell volume homeostasis (GO:0006884)2.81034196
80thyroid gland development (GO:0030878)2.79222140
81purine nucleoside diphosphate metabolic process (GO:0009135)2.79179857
82purine ribonucleoside diphosphate metabolic process (GO:0009179)2.79179857
83regulation of exit from mitosis (GO:0007096)2.78350281
84patterning of blood vessels (GO:0001569)2.73768694
85amino-acid betaine transport (GO:0015838)2.71844361
86carnitine transport (GO:0015879)2.71844361
87negative regulation of stem cell proliferation (GO:2000647)2.71840021
88positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.68678502
89alpha-beta T cell differentiation involved in immune response (GO:0002293)2.68117778
90alpha-beta T cell activation involved in immune response (GO:0002287)2.68117778
91T cell differentiation involved in immune response (GO:0002292)2.68117778
92potassium ion export (GO:0071435)2.61677202
93regulation of cell size (GO:0008361)2.60924214
94rRNA modification (GO:0000154)2.60572665
95muscle cell fate commitment (GO:0042693)2.59955338
96hyaluronan catabolic process (GO:0030214)2.58413152
97actin-mediated cell contraction (GO:0070252)2.58278565
98cytoplasmic mRNA processing body assembly (GO:0033962)2.57308430
99actin-myosin filament sliding (GO:0033275)2.56131985
100muscle filament sliding (GO:0030049)2.56131985

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.89205430
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.98704699
3IGF1R_20145208_ChIP-Seq_DFB_Human3.01777430
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.99624348
5ESR1_20079471_ChIP-ChIP_T-47D_Human2.70583777
6ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.69184954
7IRF8_22096565_ChIP-ChIP_GC-B_Human2.61142204
8VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.19347416
9NOTCH1_21737748_ChIP-Seq_TLL_Human2.10826851
10FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse13.9841217
11GBX2_23144817_ChIP-Seq_PC3_Human1.91359677
12CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.83484858
13GATA1_22025678_ChIP-Seq_K562_Human1.78655828
14VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.74826027
15CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.74259504
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.73876729
17ER_23166858_ChIP-Seq_MCF-7_Human1.68869943
18RXR_22108803_ChIP-Seq_LS180_Human1.62396431
19TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.56496592
20CJUN_26792858_Chip-Seq_BT549_Human1.50983426
21AR_21909140_ChIP-Seq_LNCAP_Human1.46147349
22SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.43085725
23SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.38138738
24SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.38138738
25KDM2B_26808549_Chip-Seq_DND41_Human1.38132860
26WDR5_24793694_ChIP-Seq_LNCAP_Human1.36168437
27BRD4_25478319_ChIP-Seq_HGPS_Human1.34392985
28SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.33067974
29MYB_26560356_Chip-Seq_TH1_Human1.32772779
30HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.31928491
31MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.31717695
32AR_21572438_ChIP-Seq_LNCaP_Human1.28850352
33FOXM1_23109430_ChIP-Seq_U2OS_Human1.27177628
34TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25073888
35RARG_19884340_ChIP-ChIP_MEFs_Mouse1.24730956
36TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19751178
37ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.17212992
38ELF5_23300383_ChIP-Seq_T47D_Human1.17023080
39ZNF263_19887448_ChIP-Seq_K562_Human1.16493630
40STAT4_19710469_ChIP-ChIP_TH1__Mouse1.15765747
41JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14608416
42CHD1_26751641_Chip-Seq_LNCaP_Human1.13542841
43MYB_26560356_Chip-Seq_TH2_Human1.12581624
44TDRD3_21172665_ChIP-Seq_MCF-7_Human1.12183396
45UBF1/2_26484160_Chip-Seq_HMECs_Human1.11899056
46IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.09459920
47JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08314880
48DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.07700951
49PKCTHETA_26484144_Chip-Seq_BREAST_Human1.06636907
50ARNT_22903824_ChIP-Seq_MCF-7_Human1.06459408
51ELK3_25401928_ChIP-Seq_HUVEC_Human1.06419678
52TP53_22127205_ChIP-Seq_IMR90_Human1.04995284
53KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.04980472
54SPI1_20517297_ChIP-Seq_HL60_Human1.04446252
55RAC3_21632823_ChIP-Seq_H3396_Human1.03900816
56GATA3_27048872_Chip-Seq_THYMUS_Human1.03686803
57MAF_26560356_Chip-Seq_TH2_Human1.02421139
58KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.02142916
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.02010582
60BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98560238
61VDR_21846776_ChIP-Seq_THP-1_Human0.96860096
62MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96067241
63E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94412569
64SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.92643982
65KDM2B_26808549_Chip-Seq_JURKAT_Human0.92000337
66GATA3_26560356_Chip-Seq_TH2_Human0.86414456
67KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86238900
68UTX_26944678_Chip-Seq_JUKART_Human0.85924991
69ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85806339
70CTCF_21964334_Chip-Seq_Bcells_Human0.85745724
71ATF3_27146783_Chip-Seq_COLON_Human0.85685781
72AHR_22903824_ChIP-Seq_MCF-7_Human0.85418462
73GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84338002
74SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.84328925
75VDR_24787735_ChIP-Seq_THP-1_Human0.83924722
76KLF5_20875108_ChIP-Seq_MESCs_Mouse0.83837994
77FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.83563907
78CBP_20019798_ChIP-Seq_JUKART_Human0.83003058
79IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.83003058
80EGR1_23403033_ChIP-Seq_LIVER_Mouse0.81688539
81CTBP1_25329375_ChIP-Seq_LNCAP_Human0.81266903
82RUNX1_27514584_Chip-Seq_MCF-7_Human0.80655892
83EP300_21415370_ChIP-Seq_HL-1_Mouse0.80269415
84KDM2B_26808549_Chip-Seq_SUP-B15_Human0.77711208
85ELF1_20517297_ChIP-Seq_JURKAT_Human0.77494859
86CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.77038281
87TP63_17297297_ChIP-ChIP_HaCaT_Human0.76748401
88DCP1A_22483619_ChIP-Seq_HELA_Human0.76035787
89VDR_24763502_ChIP-Seq_THP-1_Human0.75759654
90TP53_20018659_ChIP-ChIP_R1E_Mouse0.75538316
91SPI1_23127762_ChIP-Seq_K562_Human0.74717481
92CTCF_21964334_ChIP-Seq_BJAB-B_Human0.74539459
93TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.73514251
94TP53_18474530_ChIP-ChIP_U2OS_Human0.73081130
95STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.72095799
96NANOG_20526341_ChIP-Seq_ESCs_Human0.71732224
97ERA_21632823_ChIP-Seq_H3396_Human0.71499621
98NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.71115080
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70469941
100HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.70279152

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration4.56601233
2MP0003806_abnormal_nucleotide_metabolis3.98403101
3MP0004084_abnormal_cardiac_muscle3.52040457
4MP0009697_abnormal_copulation3.28013303
5MP0000465_gastrointestinal_hemorrhage3.05412638
6MP0001849_ear_inflammation3.01106853
7MP0010234_abnormal_vibrissa_follicle2.88859281
8MP0010368_abnormal_lymphatic_system2.83183241
9MP0004272_abnormal_basement_membrane2.79741312
10MP0008004_abnormal_stomach_pH2.75250580
11MP0003315_abnormal_perineum_morphology2.61047398
12MP0002132_abnormal_respiratory_system2.52482837
13MP0009840_abnormal_foam_cell2.47985221
14MP0002837_dystrophic_cardiac_calcinosis2.44458261
15MP0005410_abnormal_fertilization2.41626561
16MP0004036_abnormal_muscle_relaxation2.35372818
17MP0002160_abnormal_reproductive_system2.10268115
18MP0003828_pulmonary_edema2.06101331
19MP0003763_abnormal_thymus_physiology2.03773235
20MP0004381_abnormal_hair_follicle2.00800679
21MP0005623_abnormal_meninges_morphology1.89264837
22MP0005330_cardiomyopathy1.87724281
23MP0002269_muscular_atrophy1.85037518
24MP0000747_muscle_weakness1.80931301
25MP0002877_abnormal_melanocyte_morpholog1.78907733
26MP0009780_abnormal_chondrocyte_physiolo1.74223337
27MP0005058_abnormal_lysosome_morphology1.61914547
28MP0003950_abnormal_plasma_membrane1.58228823
29MP0005451_abnormal_body_composition1.55234511
30MP0001270_distended_abdomen1.50988658
31MP0000759_abnormal_skeletal_muscle1.50297062
32MP0002127_abnormal_cardiovascular_syste1.47642668
33MP0005646_abnormal_pituitary_gland1.44053554
34MP0004233_abnormal_muscle_weight1.43277327
35MP0000733_abnormal_muscle_development1.42494101
36MP0000537_abnormal_urethra_morphology1.40635726
37MP0004087_abnormal_muscle_fiber1.39153972
38MP0005166_decreased_susceptibility_to1.38906738
39MP0005409_darkened_coat_color1.34065188
40MP0005187_abnormal_penis_morphology1.33513863
41MP0000678_abnormal_parathyroid_gland1.32792632
42MP0002108_abnormal_muscle_morphology1.30067093
43MP0000681_abnormal_thyroid_gland1.29228440
44MP0001879_abnormal_lymphatic_vessel1.28560866
45MP0001188_hyperpigmentation1.28453282
46MP0002009_preneoplasia1.25667898
47MP0006036_abnormal_mitochondrial_physio1.18304564
48MP0000343_altered_response_to1.16036784
49MP0010386_abnormal_urinary_bladder1.14186248
50MP0003705_abnormal_hypodermis_morpholog1.10231486
51MP0009250_abnormal_appendicular_skeleto1.09669372
52MP0005620_abnormal_muscle_contractility1.08085487
53MP0000762_abnormal_tongue_morphology1.05947081
54MP0005385_cardiovascular_system_phenoty1.05088120
55MP0001544_abnormal_cardiovascular_syste1.05088120
56MP0004484_altered_response_of1.04806148
57MP0003385_abnormal_body_wall0.99300832
58MP0000627_abnormal_mammary_gland0.98396409
59MP0010630_abnormal_cardiac_muscle0.97808686
60MP0008007_abnormal_cellular_replicative0.97211235
61MP0003091_abnormal_cell_migration0.96498281
62MP0001929_abnormal_gametogenesis0.95185785
63MP0000703_abnormal_thymus_morphology0.94141405
64MP0005360_urolithiasis0.92197854
65MP0003868_abnormal_feces_composition0.91760010
66MP0005499_abnormal_olfactory_system0.91006573
67MP0005394_taste/olfaction_phenotype0.91006573
68MP0003453_abnormal_keratinocyte_physiol0.90580258
69MP0002998_abnormal_bone_remodeling0.89148697
70MP0002249_abnormal_larynx_morphology0.86644907
71MP0010352_gastrointestinal_tract_polyps0.86001556
72MP0005595_abnormal_vascular_smooth0.85619480
73MP0010307_abnormal_tumor_latency0.82931744
74MP0010094_abnormal_chromosome_stability0.81934442
75MP0008775_abnormal_heart_ventricle0.80759844
76MP0006072_abnormal_retinal_apoptosis0.79854580
77MP0005389_reproductive_system_phenotype0.77306961
78MP0006138_congestive_heart_failure0.72343515
79MP0005248_abnormal_Harderian_gland0.71116746
80MP0003300_gastrointestinal_ulcer0.69255985
81MP0005647_abnormal_sex_gland0.68920195
82MP0003698_abnormal_male_reproductive0.68138881
83MP0002166_altered_tumor_susceptibility0.67448292
84MP0001919_abnormal_reproductive_system0.67040183
85MP0004510_myositis0.65084882
86MP0003936_abnormal_reproductive_system0.64379454
87MP0003045_fibrosis0.62066794
88MP0003136_yellow_coat_color0.61701498
89MP0003077_abnormal_cell_cycle0.61433412
90MP0001984_abnormal_olfaction0.61220012
91MP0004215_abnormal_myocardial_fiber0.61105544
92MP0003935_abnormal_craniofacial_develop0.59392538
93MP0008438_abnormal_cutaneous_collagen0.57872553
94MP0003879_abnormal_hair_cell0.57733968
95MP0000767_abnormal_smooth_muscle0.57478015
96MP0008789_abnormal_olfactory_epithelium0.57307695
97MP0001299_abnormal_eye_distance/0.55535645
98MP0002115_abnormal_skeleton_extremities0.55032779
99MP0002722_abnormal_immune_system0.54794249
100MP0004264_abnormal_extraembryonic_tissu0.54300118

Predicted human phenotypes

RankGene SetZ-score
1Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)6.31445379
2Abnormality of the columella (HP:0009929)6.00315268
3Aplasia/Hypoplasia involving the sinuses (HP:0009120)5.43890606
4Abnormality of the frontal sinuses (HP:0002687)5.16066871
5Resting tremor (HP:0002322)5.04787161
6Hyporeflexia of lower limbs (HP:0002600)4.99270200
7Eosinophilia (HP:0001880)4.44152496
8Aplasia cutis congenita (HP:0001057)4.39432233
9Reduced antithrombin III activity (HP:0001976)4.17769023
10Centrally nucleated skeletal muscle fibers (HP:0003687)4.15508291
11Exercise-induced myalgia (HP:0003738)4.09031847
12Aortic aneurysm (HP:0004942)4.07765550
13Spinal rigidity (HP:0003306)4.00082005
14Abnormality of the shoulder girdle musculature (HP:0001435)3.91413262
15Scapular winging (HP:0003691)3.77436146
16Granulocytopenia (HP:0001913)3.68442512
17Syringomyelia (HP:0003396)3.60300941
18Spinal cord lesions (HP:0100561)3.60300941
19Clumsiness (HP:0002312)3.56207697
20Diaphragmatic weakness (HP:0009113)3.44022190
21Sensory axonal neuropathy (HP:0003390)3.23856955
22Right ventricular cardiomyopathy (HP:0011663)3.23167946
23EMG: myopathic abnormalities (HP:0003458)3.22753613
24Abnormality of liposaccharide metabolism (HP:0010968)3.12218007
25Abnormality of glycosphingolipid metabolism (HP:0004343)3.12218007
26Abnormality of glycolipid metabolism (HP:0010969)3.12218007
27Exercise-induced muscle cramps (HP:0003710)3.03424056
28Abnormality of the calf musculature (HP:0001430)3.01170774
29Increased variability in muscle fiber diameter (HP:0003557)2.98970249
30Abnormality of eosinophils (HP:0001879)2.94555317
31Weak cry (HP:0001612)2.93980322
32Bulbar palsy (HP:0001283)2.91784814
33Thoracic kyphosis (HP:0002942)2.89560068
34Poor head control (HP:0002421)2.82370785
35Frequent falls (HP:0002359)2.79060139
36Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.76581090
37Muscular dystrophy (HP:0003560)2.75788044
38Calf muscle hypertrophy (HP:0008981)2.74430195
39High anterior hairline (HP:0009890)2.71267879
40Rimmed vacuoles (HP:0003805)2.67226976
41Abnormality of the intrinsic pathway (HP:0010989)2.62889000
42Abnormality of lateral ventricle (HP:0030047)2.55955053
43Thoracolumbar scoliosis (HP:0002944)2.54895553
44Abnormality of skeletal muscle fiber size (HP:0012084)2.48771630
45Myoglobinuria (HP:0002913)2.48211200
46Multiple lipomas (HP:0001012)2.43148660
47Muscle hypertrophy of the lower extremities (HP:0008968)2.41965197
48Median cleft lip (HP:0000161)2.37027827
49Urinary urgency (HP:0000012)2.29803523
50Unsteady gait (HP:0002317)2.29705326
51Abnormality of the thoracic spine (HP:0100711)2.23743772
52Capillary hemangiomas (HP:0005306)2.22344774
53Self-mutilation (HP:0000742)2.21914187
54Colitis (HP:0002583)2.20708579
55Proximal amyotrophy (HP:0007126)2.18110869
56Neck muscle weakness (HP:0000467)2.17963224
57Difficulty walking (HP:0002355)2.16654844
58Rhabdomyolysis (HP:0003201)2.15383054
59Ventricular fibrillation (HP:0001663)2.12613722
60Ureteral duplication (HP:0000073)2.09753805
61Generalized amyotrophy (HP:0003700)2.07470222
62Coxa valga (HP:0002673)2.07435822
63Abnormality of the incisor (HP:0000676)2.03979584
64Knee flexion contracture (HP:0006380)1.98372582
65Sudden death (HP:0001699)1.97717066
66Elbow flexion contracture (HP:0002987)1.96547560
67High pitched voice (HP:0001620)1.93521291
68Postural instability (HP:0002172)1.93132731
69Squamous cell carcinoma (HP:0002860)1.91593416
70Facial hemangioma (HP:0000329)1.90306570
71Steppage gait (HP:0003376)1.84331559
72Back pain (HP:0003418)1.84098114
73Retinal dysplasia (HP:0007973)1.83202447
74Asymmetry of the thorax (HP:0001555)1.82177695
75Absent rod-and cone-mediated responses on ERG (HP:0007688)1.81663706
76Limb-girdle muscle atrophy (HP:0003797)1.81371550
77Stridor (HP:0010307)1.81236857
78Aplasia/Hypoplasia of the uvula (HP:0010293)1.80952460
79Chromsome breakage (HP:0040012)1.79191351
80Abnormality of the ileum (HP:0001549)1.77815457
81Cerebellar dysplasia (HP:0007033)1.75521285
82Aortic dissection (HP:0002647)1.74090799
83Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.72589854
84Short middle phalanx of the 5th finger (HP:0004220)1.67921457
85Short palpebral fissure (HP:0012745)1.67385915
86Achilles tendon contracture (HP:0001771)1.64776547
87Benign neoplasm of the central nervous system (HP:0100835)1.64569982
88Popliteal pterygium (HP:0009756)1.63182350
89Leukocytosis (HP:0001974)1.62284643
90Spondylolisthesis (HP:0003302)1.60480858
91Respiratory insufficiency due to muscle weakness (HP:0002747)1.60291824
92Distal arthrogryposis (HP:0005684)1.59589629
93Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.58440549
94Axonal loss (HP:0003447)1.57775378
95Muscle fiber inclusion bodies (HP:0100299)1.57560256
96Absent thumb (HP:0009777)1.57550802
97Lower limb hyperreflexia (HP:0002395)1.55859042
98Vitreoretinal degeneration (HP:0000655)1.55311589
99Nonprogressive disorder (HP:0003680)1.54253529
100Acute lymphatic leukemia (HP:0006721)1.53577142

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK16.90541161
2MARK34.20484376
3EIF2AK33.41533088
4LATS13.33095548
5OBSCN3.15476767
6NEK22.93150958
7STK38L2.72517015
8CSNK1A1L2.60123934
9LATS22.59771575
10NME22.49137421
11CSNK1G32.20566466
12MYLK2.19453331
13ARAF2.16642127
14MAP2K72.00274128
15NLK1.90565015
16MAP3K91.86980383
17MOS1.83834689
18TLK11.75693832
19MAP3K101.72306978
20ZAK1.70503115
21CSNK1G11.69462606
22MAP3K131.67417569
23MAP3K11.66374189
24CSNK1G21.64842842
25ICK1.62937651
26CDK121.58870696
27MUSK1.53787331
28EEF2K1.53497073
29CDK81.11340382
30TRIB31.04751601
31MELK1.04122423
32DYRK31.01950083
33RPS6KA50.99154591
34RPS6KB10.98703669
35MST1R0.96143935
36SGK2230.95832996
37SGK4940.95832996
38CDK30.92528820
39STK30.85625363
40FES0.83071643
41ILK0.82552340
42IRAK20.80248982
43KSR20.80128463
44STK380.78248327
45STK40.74020384
46SGK20.73436230
47PRKG20.72463308
48MTOR0.68346186
49RAF10.68267920
50TXK0.63602933
51MAPK120.63054006
52PRKCQ0.60753935
53BRAF0.59861939
54AKT20.58545146
55PAK10.58463887
56RET0.55546451
57RPS6KA40.54984317
58MAPK110.54127743
59DAPK30.53324189
60MAP3K20.53318282
61BTK0.52345000
62BMPR1B0.50851805
63FRK0.50754246
64PBK0.48499408
65ROCK10.46159198
66PAK20.45224629
67STK390.45146950
68RPS6KA10.44956866
69MAP3K140.44956809
70SGK30.44717144
71TRPM70.44436133
72RPS6KA20.43430505
73PDGFRB0.42565222
74CDK70.40644106
75AURKB0.40597706
76PKN20.40242105
77PDPK10.39652708
78BRD40.39491078
79TIE10.38118117
80CSNK1D0.37044963
81CLK10.35231419
82CDC42BPA0.34337301
83IKBKE0.33742904
84ATM0.32808682
85TGFBR10.31595369
86EPHB10.30388936
87MAPKAPK20.29959550
88IRAK30.29911230
89WEE10.29537803
90MAP3K80.28996932
91MAPKAPK30.28139396
92PHKG20.28100267
93PHKG10.28100267
94AURKA0.28004310
95GRK60.26429946
96FGFR30.26328092
97CCNB10.24142764
98ZAP700.23683354
99HCK0.23241111
100HIPK20.23139792

Predicted pathways (KEGG)

RankGene SetZ-score
1Systemic lupus erythematosus_Homo sapiens_hsa053223.83999985
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.14745304
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.04638655
4Alcoholism_Homo sapiens_hsa050342.94184573
5Olfactory transduction_Homo sapiens_hsa047402.90931601
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.74193818
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.64281275
8Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.01416885
9Endometrial cancer_Homo sapiens_hsa052131.78037373
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.76131564
11Dorso-ventral axis formation_Homo sapiens_hsa043201.61572422
12B cell receptor signaling pathway_Homo sapiens_hsa046621.60590806
13cGMP-PKG signaling pathway_Homo sapiens_hsa040221.53697505
14Apoptosis_Homo sapiens_hsa042101.49137789
15Oxytocin signaling pathway_Homo sapiens_hsa049211.48550420
16Circadian rhythm_Homo sapiens_hsa047101.46749807
17Nitrogen metabolism_Homo sapiens_hsa009101.42448075
18Vascular smooth muscle contraction_Homo sapiens_hsa042701.41001307
19T cell receptor signaling pathway_Homo sapiens_hsa046601.30774277
20Viral carcinogenesis_Homo sapiens_hsa052031.30755702
21Other glycan degradation_Homo sapiens_hsa005111.28158422
22Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.25384647
23Gap junction_Homo sapiens_hsa045401.25068517
24Renin secretion_Homo sapiens_hsa049241.24725358
25Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.18015603
26Hepatitis B_Homo sapiens_hsa051611.12572070
27Oocyte meiosis_Homo sapiens_hsa041141.12115977
28Thyroid cancer_Homo sapiens_hsa052161.11871819
29Glioma_Homo sapiens_hsa052141.08802009
30TGF-beta signaling pathway_Homo sapiens_hsa043501.08389682
31Hedgehog signaling pathway_Homo sapiens_hsa043401.06365234
32Prostate cancer_Homo sapiens_hsa052151.04967624
33Dilated cardiomyopathy_Homo sapiens_hsa054141.04915139
34Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.04091606
35Non-small cell lung cancer_Homo sapiens_hsa052231.02791787
36NF-kappa B signaling pathway_Homo sapiens_hsa040641.02031621
37mTOR signaling pathway_Homo sapiens_hsa041501.01578272
38Phagosome_Homo sapiens_hsa041451.00931904
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.96318104
40DNA replication_Homo sapiens_hsa030300.95951792
41FoxO signaling pathway_Homo sapiens_hsa040680.94442955
42Legionellosis_Homo sapiens_hsa051340.93982205
43Focal adhesion_Homo sapiens_hsa045100.93933733
44Sphingolipid signaling pathway_Homo sapiens_hsa040710.93421045
45Acute myeloid leukemia_Homo sapiens_hsa052210.87430011
46Salivary secretion_Homo sapiens_hsa049700.86954321
47Longevity regulating pathway - mammal_Homo sapiens_hsa042110.86755841
48Melanoma_Homo sapiens_hsa052180.86259291
49Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.84838737
50Herpes simplex infection_Homo sapiens_hsa051680.84564015
51AMPK signaling pathway_Homo sapiens_hsa041520.84296035
52Malaria_Homo sapiens_hsa051440.81297120
53ECM-receptor interaction_Homo sapiens_hsa045120.79755474
54Insulin signaling pathway_Homo sapiens_hsa049100.79570809
55Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79431801
56Measles_Homo sapiens_hsa051620.77138476
57Glucagon signaling pathway_Homo sapiens_hsa049220.76530794
58Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.74934171
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70282955
60Viral myocarditis_Homo sapiens_hsa054160.69984682
61Sphingolipid metabolism_Homo sapiens_hsa006000.68660029
62Basal transcription factors_Homo sapiens_hsa030220.68460221
63Adherens junction_Homo sapiens_hsa045200.67754435
64Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.67745026
65Estrogen signaling pathway_Homo sapiens_hsa049150.65921975
66TNF signaling pathway_Homo sapiens_hsa046680.64465440
67Small cell lung cancer_Homo sapiens_hsa052220.63445204
68HTLV-I infection_Homo sapiens_hsa051660.60305496
69Glycosaminoglycan degradation_Homo sapiens_hsa005310.60004157
70Phenylalanine metabolism_Homo sapiens_hsa003600.59392607
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58561260
72Melanogenesis_Homo sapiens_hsa049160.58153208
73Toll-like receptor signaling pathway_Homo sapiens_hsa046200.58009321
74Hematopoietic cell lineage_Homo sapiens_hsa046400.57602438
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.55562358
76Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.54615306
77Wnt signaling pathway_Homo sapiens_hsa043100.54277551
78Purine metabolism_Homo sapiens_hsa002300.52509092
79Calcium signaling pathway_Homo sapiens_hsa040200.52006996
80Gastric acid secretion_Homo sapiens_hsa049710.51931559
81Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.51517883
82PI3K-Akt signaling pathway_Homo sapiens_hsa041510.50668106
83Fanconi anemia pathway_Homo sapiens_hsa034600.49666858
84Bladder cancer_Homo sapiens_hsa052190.48119758
85p53 signaling pathway_Homo sapiens_hsa041150.47419099
86Hippo signaling pathway_Homo sapiens_hsa043900.47281402
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45500216
88Long-term potentiation_Homo sapiens_hsa047200.44620381
89Jak-STAT signaling pathway_Homo sapiens_hsa046300.44478929
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.43029713
91Pertussis_Homo sapiens_hsa051330.41246753
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.40943533
93Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40580706
94PPAR signaling pathway_Homo sapiens_hsa033200.40543278
95Proteoglycans in cancer_Homo sapiens_hsa052050.38791475
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.37738166
97MAPK signaling pathway_Homo sapiens_hsa040100.37499955
98Phototransduction_Homo sapiens_hsa047440.37138526
99Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35970425
100Platelet activation_Homo sapiens_hsa046110.35747971

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