SPTLC3

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: This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of skin barrier (GO:0061436)9.67444910
2regulation of water loss via skin (GO:0033561)9.31523879
3sphingosine metabolic process (GO:0006670)8.63044656
4diol metabolic process (GO:0034311)8.05895586
5* sphingoid metabolic process (GO:0046519)7.43427669
6keratinization (GO:0031424)7.37704373
7keratinocyte proliferation (GO:0043616)7.20485290
8regulation of phospholipase A2 activity (GO:0032429)6.53465057
9multicellular organismal water homeostasis (GO:0050891)6.43585944
10regulation of ruffle assembly (GO:1900027)6.42131577
11keratinocyte differentiation (GO:0030216)6.34311022
12glucosamine-containing compound catabolic process (GO:1901072)5.81784487
13long-chain fatty acid biosynthetic process (GO:0042759)5.72362970
14detection of bacterium (GO:0016045)5.65446585
15water homeostasis (GO:0030104)5.56414705
16regulation of cell proliferation involved in kidney development (GO:1901722)5.44830258
17tryptophan catabolic process (GO:0006569)5.29633101
18indole-containing compound catabolic process (GO:0042436)5.29633101
19indolalkylamine catabolic process (GO:0046218)5.29633101
20fatty acid elongation (GO:0030497)5.26359378
21bundle of His cell to Purkinje myocyte communication (GO:0086069)5.13143019
22viral transcription (GO:0019083)5.11104363
23epidermal cell differentiation (GO:0009913)5.06054804
24cellular ketone body metabolic process (GO:0046950)5.02695897
25regulation of chemokine secretion (GO:0090196)5.02662903
26interferon-gamma secretion (GO:0072643)4.98473375
27positive regulation of chemokine secretion (GO:0090197)4.90426471
28indolalkylamine metabolic process (GO:0006586)4.89324530
29hemidesmosome assembly (GO:0031581)4.85989747
30translational termination (GO:0006415)4.80095615
31detection of other organism (GO:0098543)4.78786689
32epidermis development (GO:0008544)4.78628972
33kynurenine metabolic process (GO:0070189)4.70401143
34cyclooxygenase pathway (GO:0019371)4.70320538
35peptide cross-linking (GO:0018149)4.66481695
36positive regulation of interleukin-8 secretion (GO:2000484)4.51769511
37ketone body metabolic process (GO:1902224)4.45821645
38estrogen biosynthetic process (GO:0006703)4.45766590
39tryptophan metabolic process (GO:0006568)4.45361218
40high-density lipoprotein particle remodeling (GO:0034375)4.42610866
41linoleic acid metabolic process (GO:0043651)4.37564288
42ribosomal small subunit biogenesis (GO:0042274)4.36061963
43intermediate filament organization (GO:0045109)4.19983515
44signal peptide processing (GO:0006465)4.18535969
45regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.16855969
46detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.12258037
47negative regulation of stress fiber assembly (GO:0051497)4.11839350
48reverse cholesterol transport (GO:0043691)4.07194743
49regulation of hippo signaling (GO:0035330)4.05155659
50regulation of hypersensitivity (GO:0002883)4.01838996
51negative regulation of kidney development (GO:0090185)3.98730590
52regulation of transforming growth factor beta1 production (GO:0032908)3.97796690
53response to phenylpropanoid (GO:0080184)3.92666629
54skin morphogenesis (GO:0043589)3.91387462
55negative regulation of sodium ion transport (GO:0010766)3.87780975
56phospholipid scrambling (GO:0017121)3.85157745
57SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.84631860
58long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.83873120
59keratinocyte development (GO:0003334)3.82990230
60protein targeting to ER (GO:0045047)3.80768567
61cotranslational protein targeting to membrane (GO:0006613)3.78397078
62cellular biogenic amine catabolic process (GO:0042402)3.76888541
63amine catabolic process (GO:0009310)3.76888541
64hair cycle (GO:0042633)3.76466849
65molting cycle (GO:0042303)3.76466849
66cilium or flagellum-dependent cell motility (GO:0001539)3.76228282
67interkinetic nuclear migration (GO:0022027)3.75943635
68viral life cycle (GO:0019058)3.73253538
69flavonoid metabolic process (GO:0009812)3.72612159
70negative regulation of protein activation cascade (GO:2000258)3.72093788
71translational elongation (GO:0006414)3.71891597
72positive regulation of glomerulus development (GO:0090193)3.70252636
73primary alcohol catabolic process (GO:0034310)3.69002910
74negative regulation of interferon-gamma production (GO:0032689)3.68919163
75establishment of protein localization to endoplasmic reticulum (GO:0072599)3.68868928
76phosphatidylinositol acyl-chain remodeling (GO:0036149)3.67969926
77phospholipid efflux (GO:0033700)3.65651991
78aromatic amino acid family catabolic process (GO:0009074)3.64638896
79cellular protein complex disassembly (GO:0043624)3.62787069
80protein localization to endoplasmic reticulum (GO:0070972)3.58893653
81chemical homeostasis within a tissue (GO:0048875)3.55377375
82monoubiquitinated protein deubiquitination (GO:0035520)3.52934838
83positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.52130014
84regulation of interleukin-8 secretion (GO:2000482)3.52019373
85positive regulation of vesicle fusion (GO:0031340)3.49479502
86establishment of protein localization to Golgi (GO:0072600)3.48845862
87neural tube formation (GO:0001841)3.48360459
88regulation of cholesterol esterification (GO:0010872)3.46420593
89regulation of natural killer cell differentiation (GO:0032823)3.43581704
90detection of light stimulus involved in visual perception (GO:0050908)3.43341393
91detection of light stimulus involved in sensory perception (GO:0050962)3.43341393
92prostanoid biosynthetic process (GO:0046457)3.42553513
93prostaglandin biosynthetic process (GO:0001516)3.42553513
94indole-containing compound metabolic process (GO:0042430)3.40341730
95thyroid hormone metabolic process (GO:0042403)3.39694644
96gland morphogenesis (GO:0022612)3.39649656
97nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.38848489
98positive regulation of developmental pigmentation (GO:0048087)3.36693160
99negative regulation of acute inflammatory response (GO:0002674)3.36225998
100estrogen metabolic process (GO:0008210)3.36096514
101phospholipid homeostasis (GO:0055091)3.35732328
102retinal metabolic process (GO:0042574)3.34036339
103regulation of pigment cell differentiation (GO:0050932)3.33336245
104benzene-containing compound metabolic process (GO:0042537)3.32045213
105bile acid biosynthetic process (GO:0006699)3.30961976
106negative regulation of T cell mediated immunity (GO:0002710)3.30462891
107oxidative demethylation (GO:0070989)3.29198173
108fatty-acyl-CoA metabolic process (GO:0035337)3.28188996
109phosphatidylserine acyl-chain remodeling (GO:0036150)3.27667267
110reflex (GO:0060004)3.26888987
111UDP-N-acetylglucosamine metabolic process (GO:0006047)3.26813111
112cellular response to ethanol (GO:0071361)3.26802222
113lipoxygenase pathway (GO:0019372)3.22964988
114positive regulation of interleukin-4 production (GO:0032753)3.22543951
115photoreceptor cell maintenance (GO:0045494)3.21100267
116negative regulation of complement activation (GO:0045916)3.21095856
117NAD biosynthetic process (GO:0009435)3.20118908
118tachykinin receptor signaling pathway (GO:0007217)3.18654267
119androgen biosynthetic process (GO:0006702)3.15406384
120regulation of gene silencing by RNA (GO:0060966)3.15376239
121regulation of posttranscriptional gene silencing (GO:0060147)3.15376239
122regulation of gene silencing by miRNA (GO:0060964)3.15376239
123protein-lipid complex remodeling (GO:0034368)3.14938868
124macromolecular complex remodeling (GO:0034367)3.14938868
125plasma lipoprotein particle remodeling (GO:0034369)3.14938868
126negative regulation of interleukin-2 production (GO:0032703)3.14827942
127aromatic amino acid family metabolic process (GO:0009072)3.13137477
128drug catabolic process (GO:0042737)3.11929037
129phosphatidylcholine acyl-chain remodeling (GO:0036151)3.11523431
130maturation of SSU-rRNA (GO:0030490)3.11497243
131androgen metabolic process (GO:0008209)3.11184773
132cholesterol efflux (GO:0033344)3.11070876
133triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.10365612
134negative regulation of calcium ion transport into cytosol (GO:0010523)3.09558941
135eyelid development in camera-type eye (GO:0061029)3.07637533
136G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.05227105
137negative regulation of lipase activity (GO:0060192)3.05105557
138regulation of establishment of cell polarity (GO:2000114)3.04359930
139cellular response to sterol (GO:0036315)3.02990746
140cardiolipin metabolic process (GO:0032048)3.01418380
141phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.01346649
142innate immune response in mucosa (GO:0002227)3.01194823
143phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.00324784
144lipid translocation (GO:0034204)2.98693005
145phospholipid translocation (GO:0045332)2.98693005
146cellular response to interferon-alpha (GO:0035457)2.94736848
147protein complex disassembly (GO:0043241)2.93757298
148protein K48-linked deubiquitination (GO:0071108)2.93102366
149plasma lipoprotein particle assembly (GO:0034377)2.92465064
150intestinal epithelial cell development (GO:0060576)2.92379376
151ethanol metabolic process (GO:0006067)2.92325902
152regulation of glomerular filtration (GO:0003093)2.91110740
153negative regulation of keratinocyte proliferation (GO:0010839)2.91014888
154chemosensory behavior (GO:0007635)2.89644726
155ectoderm development (GO:0007398)2.88319218
156regulation of glomerulus development (GO:0090192)2.88217632
157membrane budding (GO:0006900)2.85862106
158positive regulation of mitochondrial membrane permeability (GO:0035794)2.85637026
159regulation of sarcomere organization (GO:0060297)2.85192532
160antibacterial humoral response (GO:0019731)2.85066487
161regulation of establishment or maintenance of cell polarity (GO:0032878)2.84791758
162negative regulation of actin filament bundle assembly (GO:0032232)2.84506573
163long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.83531712
164translational initiation (GO:0006413)2.82685508
165protein targeting to membrane (GO:0006612)2.81869655
166regulation of acute inflammatory response to antigenic stimulus (GO:0002864)2.78626638
167negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.78489506
168protein K11-linked deubiquitination (GO:0035871)2.75759783
169serotonin metabolic process (GO:0042428)2.73370300
170behavioral response to ethanol (GO:0048149)2.72222773
171low-density lipoprotein particle remodeling (GO:0034374)2.67611525
172gamma-aminobutyric acid transport (GO:0015812)2.66458734
173snRNA transcription (GO:0009301)2.65749202
174fucose catabolic process (GO:0019317)2.64887519
175L-fucose metabolic process (GO:0042354)2.64887519
176L-fucose catabolic process (GO:0042355)2.64887519
177sterol catabolic process (GO:0016127)2.62512898
178cholesterol catabolic process (GO:0006707)2.62512898
179bile acid metabolic process (GO:0008206)2.61810609
180triglyceride homeostasis (GO:0070328)2.61422172
181acylglycerol homeostasis (GO:0055090)2.61422172
182auditory receptor cell stereocilium organization (GO:0060088)2.60553180
183behavioral response to nicotine (GO:0035095)2.60473781
184detection of mechanical stimulus involved in sensory perception (GO:0050974)2.60437166
185intestinal cholesterol absorption (GO:0030299)2.59861402
186positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.59710960
187primary amino compound metabolic process (GO:1901160)2.59684517
188lipoprotein metabolic process (GO:0042157)2.58804023
189regulation of triglyceride catabolic process (GO:0010896)2.57513393
190prostate gland growth (GO:0060736)2.56752761
191sulfation (GO:0051923)2.53352149
192thyroid hormone generation (GO:0006590)2.53107820
193neuronal action potential (GO:0019228)2.53084149
194protein K63-linked deubiquitination (GO:0070536)2.50438582
195sex differentiation (GO:0007548)2.49642669
196ovulation from ovarian follicle (GO:0001542)2.47241977
197negative regulation of protein localization to cell surface (GO:2000009)2.46109117
198regulation of gonadotropin secretion (GO:0032276)2.45784484
199desmosome organization (GO:0002934)14.1655409

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse6.74310011
2GBX2_23144817_ChIP-Seq_PC3_Human3.29842284
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.85753426
4SOX9_24532713_ChIP-Seq_HFSC_Mouse2.85736669
5VDR_22108803_ChIP-Seq_LS180_Human2.83350157
6P63_26484246_Chip-Seq_KERATINOCYTES_Human2.81769962
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.54899331
8* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49189634
9IGF1R_20145208_ChIP-Seq_DFB_Human2.47289263
10POU3F2_20337985_ChIP-ChIP_501MEL_Human2.39772213
11* ZNF274_21170338_ChIP-Seq_K562_Hela2.35716671
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.29524319
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.26093264
14AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.26050293
15TAF15_26573619_Chip-Seq_HEK293_Human2.20643612
16SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.19404598
17TRIM28_21343339_ChIP-Seq_HEK293_Human2.19386517
18STAT6_21828071_ChIP-Seq_BEAS2B_Human2.16183595
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.13790384
20* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.10949156
21CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.09249747
22PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.04030562
23FLI1_27457419_Chip-Seq_LIVER_Mouse2.02944961
24ESR2_21235772_ChIP-Seq_MCF-7_Human2.02298864
25TP63_17297297_ChIP-ChIP_HaCaT_Human14.5670540
26* P300_19829295_ChIP-Seq_ESCs_Human1.99445662
27ER_23166858_ChIP-Seq_MCF-7_Human1.93969370
28STAT3_23295773_ChIP-Seq_U87_Human1.93755686
29ZNF217_24962896_ChIP-Seq_MCF-7_Human1.82754111
30* SMAD4_21799915_ChIP-Seq_A2780_Human1.82232364
31SALL1_21062744_ChIP-ChIP_HESCs_Human1.82209642
32EZH2_22144423_ChIP-Seq_EOC_Human1.81166847
33FUS_26573619_Chip-Seq_HEK293_Human1.80942067
34EGR1_23403033_ChIP-Seq_LIVER_Mouse1.78716611
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.77492870
36UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.75191109
37GATA1_22025678_ChIP-Seq_K562_Human1.74887974
38ZNF263_19887448_ChIP-Seq_K562_Human1.74541973
39* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.73588717
40* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.73588717
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.73029442
42TCF4_23295773_ChIP-Seq_U87_Human1.72914201
43TP53_16413492_ChIP-PET_HCT116_Human1.71749286
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.70821519
45SOX2_20726797_ChIP-Seq_SW620_Human1.66371770
46NR3C1_21868756_ChIP-Seq_MCF10A_Human1.65131594
47IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.58632909
48CBP_20019798_ChIP-Seq_JUKART_Human1.58632909
49SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.55731822
50TCF4_18268006_ChIP-ChIP_LS174T_Human1.53818817
51EWS_26573619_Chip-Seq_HEK293_Human1.52710048
52* AR_25329375_ChIP-Seq_VCAP_Human1.48557300
53* FOXO3_23340844_ChIP-Seq_DLD1_Human1.48468664
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.47411447
55RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47080954
56TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45618606
57POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.45618606
58* TP63_23658742_ChIP-Seq_EP156T_Human1.43777862
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42584196
60SRY_22984422_ChIP-ChIP_TESTIS_Rat1.41739059
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41507204
62PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40797737
63TP53_18474530_ChIP-ChIP_U2OS_Human1.40525456
64TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.38225213
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.38211664
66ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.37924055
67HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36673418
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.36161217
69AR_21572438_ChIP-Seq_LNCaP_Human1.35495766
70EZH2_27294783_Chip-Seq_NPCs_Mouse1.34745688
71CDX2_22108803_ChIP-Seq_LS180_Human1.34710951
72EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.34352044
73SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33743140
74RUNX2_22187159_ChIP-Seq_PCA_Human1.31398434
75* CJUN_26792858_Chip-Seq_BT549_Human1.30880309
76KLF5_20875108_ChIP-Seq_MESCs_Mouse1.30724608
77* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30611533
78RUNX1_27514584_Chip-Seq_MCF-7_Human1.30243098
79* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29360694
80* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28717462
81* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.28070344
82SMAD4_21741376_ChIP-Seq_EPCs_Human1.27985384
83* SOX2_19829295_ChIP-Seq_ESCs_Human1.25226769
84* NANOG_19829295_ChIP-Seq_ESCs_Human1.25226769
85CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.24810174
86GATA4_25053715_ChIP-Seq_YYC3_Human1.24064926
87NFE2_27457419_Chip-Seq_LIVER_Mouse1.23858313
88PRDM14_20953172_ChIP-Seq_ESCs_Human1.22310014
89ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21541059
90BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.20798779
91* NANOG_18555785_Chip-Seq_ESCs_Mouse1.20071331
92FLI1_21867929_ChIP-Seq_TH2_Mouse1.18457716
93BCAT_22108803_ChIP-Seq_LS180_Human1.18177468
94EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.18175044
95RXR_22108803_ChIP-Seq_LS180_Human1.17568462
96DROSHA_22980978_ChIP-Seq_HELA_Human1.16626386
97KLF5_25053715_ChIP-Seq_YYC3_Human1.16414347
98HIF1A_21447827_ChIP-Seq_MCF-7_Human1.16394539
99* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.15783786
100AHR_22903824_ChIP-Seq_MCF-7_Human1.14105168
101PPAR_26484153_Chip-Seq_NCI-H1993_Human1.13941587
102FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12282569
103TP63_22573176_ChIP-Seq_HFKS_Human1.11702784
104SOX2_21211035_ChIP-Seq_LN229_Gbm1.11365422
105GATA3_24758297_ChIP-Seq_MCF-7_Human1.10407483
106CRX_20693478_ChIP-Seq_RETINA_Mouse1.10111529
107GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.09852050
108TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09590901
109* E2F1_18555785_Chip-Seq_ESCs_Mouse1.08625778
110CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.07325378
111* FOXA2_19822575_ChIP-Seq_HepG2_Human1.06638387
112* P53_22387025_ChIP-Seq_ESCs_Mouse1.04945054
113TP53_20018659_ChIP-ChIP_R1E_Mouse1.04536737
114CDX2_20551321_ChIP-Seq_CACO-2_Human1.04346003
115CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03162965
116OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02932347
117TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02558079
118EED_16625203_ChIP-ChIP_MESCs_Mouse1.02430634
119KDM2B_26808549_Chip-Seq_REH_Human1.02309151
120SMAD4_21741376_ChIP-Seq_HESCs_Human1.01596118
121SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.01593112
122NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.01446544
123KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.01431581
124* STAT3_18555785_Chip-Seq_ESCs_Mouse1.00894176
125PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99982426
126FOXM1_26456572_ChIP-Seq_MCF-7_Human0.99600705
127EZH2_27304074_Chip-Seq_ESCs_Mouse0.94854417
128ARNT_22903824_ChIP-Seq_MCF-7_Human0.93711635
129BMI1_23680149_ChIP-Seq_NPCS_Mouse0.93337513
130SUZ12_27294783_Chip-Seq_ESCs_Mouse0.92473893
131GATA6_21074721_ChIP-Seq_CACO-2_Human0.92012543
132ESR1_20079471_ChIP-ChIP_T-47D_Human0.90407843
133PIAS1_25552417_ChIP-Seq_VCAP_Human0.90109854
134FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89709196
135CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89472708
136SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.87691596
137* TCF4_22108803_ChIP-Seq_LS180_Human0.87526133
138SOX2_27498859_Chip-Seq_STOMACH_Mouse0.86523950
139SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.86018867
140CEBPB_22108803_ChIP-Seq_LS180_Human0.85738121
141ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.85531570
142CDX2_19796622_ChIP-Seq_MESCs_Mouse0.85173847
143GATA6_25053715_ChIP-Seq_YYC3_Human0.82098237
144CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.81909872
145GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81055879
146SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.79868784
147KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.78086117
148BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.77766228
149FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.77728548
150FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.76937361
151RNF2_18974828_ChIP-Seq_MESCs_Mouse0.75935914
152EZH2_18974828_ChIP-Seq_MESCs_Mouse0.75935914
153ATF3_27146783_Chip-Seq_COLON_Human0.75698138
154JARID2_20064375_ChIP-Seq_MESCs_Mouse0.74892499
155AUTS2_25519132_ChIP-Seq_293T-REX_Human0.74505958
156SMAD3_21741376_ChIP-Seq_HESCs_Human0.73733704
157JARID2_20075857_ChIP-Seq_MESCs_Mouse0.73710842
158HNFA_21074721_ChIP-Seq_CACO-2_Human0.70977879
159PPARA_22158963_ChIP-Seq_LIVER_Mouse0.70972936
160VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.70951359
161SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.70807738
162EZH2_27294783_Chip-Seq_ESCs_Mouse0.70134132
163NRF2_20460467_ChIP-Seq_MEFs_Mouse0.67792281
164NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.67792281
165RBPJ_21746931_ChIP-Seq_IB4_Human0.66823524
166RNF2_27304074_Chip-Seq_NSC_Mouse0.65702095
167FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.65538919
168RARG_19884340_ChIP-ChIP_MEFs_Mouse0.65325582
169CBX2_27304074_Chip-Seq_ESCs_Mouse0.65260168
170SA1_27219007_Chip-Seq_Bcells_Human0.64814461
171PHF8_20622853_ChIP-Seq_HELA_Human0.64095890
172RACK7_27058665_Chip-Seq_MCF-7_Human0.63699018
173P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.62946104
174SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.62901543
175FOXA1_25329375_ChIP-Seq_VCAP_Human0.62728972
176FOXA1_27270436_Chip-Seq_PROSTATE_Human0.62728972
177IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.61895086
178JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.61835607
179RNF2_27304074_Chip-Seq_ESCs_Mouse0.61346956

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier7.83276504
2MP0003941_abnormal_skin_development5.61960649
3MP0010234_abnormal_vibrissa_follicle5.50306742
4MP0005501_abnormal_skin_physiology4.72846257
5MP0004381_abnormal_hair_follicle4.54375764
6MP0005275_abnormal_skin_tensile4.42881327
7MP0000569_abnormal_digit_pigmentation3.85889467
8MP0005451_abnormal_body_composition3.59444628
9MP0002060_abnormal_skin_morphology3.56645137
10MP0001216_abnormal_epidermal_layer3.31854435
11MP0002254_reproductive_system_inflammat3.31379124
12MP0000383_abnormal_hair_follicle3.14069543
13MP0010771_integument_phenotype3.12343638
14MP0010678_abnormal_skin_adnexa3.11534965
15MP0003453_abnormal_keratinocyte_physiol3.11401057
16MP0008057_abnormal_DNA_replication2.96801704
17MP0002009_preneoplasia2.82108192
18MP0001986_abnormal_taste_sensitivity2.79701579
19MP0002098_abnormal_vibrissa_morphology2.65847912
20MP0002876_abnormal_thyroid_physiology2.60487228
21MP0000647_abnormal_sebaceous_gland2.56313878
22MP0005551_abnormal_eye_electrophysiolog2.47321684
23MP0010329_abnormal_lipoprotein_level2.42439834
24MP0003252_abnormal_bile_duct2.37901250
25MP0000467_abnormal_esophagus_morphology2.37269213
26MP0009697_abnormal_copulation2.34357391
27MP0001501_abnormal_sleep_pattern2.32476772
28MP0000579_abnormal_nail_morphology2.31140176
29MP0000377_abnormal_hair_follicle2.28340971
30MP0009379_abnormal_foot_pigmentation2.22413015
31MP0002138_abnormal_hepatobiliary_system2.22232712
32MP0004043_abnormal_pH_regulation2.19800835
33MP0003646_muscle_fatigue2.19600302
34MP0005670_abnormal_white_adipose2.18193073
35MP0004947_skin_inflammation2.16267767
36MP0009046_muscle_twitch2.14852687
37MP0003011_delayed_dark_adaptation2.12521343
38MP0000566_synostosis2.10728683
39MP0005365_abnormal_bile_salt2.08263101
40MP0001346_abnormal_lacrimal_gland2.01811603
41MP0006276_abnormal_autonomic_nervous1.98764493
42MP0010386_abnormal_urinary_bladder1.92728387
43MP0008877_abnormal_DNA_methylation1.85330203
44MP0000427_abnormal_hair_cycle1.81762416
45MP0001968_abnormal_touch/_nociception1.66285023
46MP0003566_abnormal_cell_adhesion1.65644103
47MP0005646_abnormal_pituitary_gland1.64831950
48MP0002139_abnormal_hepatobiliary_system1.64615556
49MP0008875_abnormal_xenobiotic_pharmacok1.61173743
50MP0001191_abnormal_skin_condition1.56347293
51MP0009931_abnormal_skin_appearance1.53633211
52MP0008004_abnormal_stomach_pH1.53353578
53MP0004185_abnormal_adipocyte_glucose1.52475401
54MP0002736_abnormal_nociception_after1.52320521
55MP0002938_white_spotting1.45797531
56MP0001243_abnormal_dermal_layer1.45486716
57MP0000762_abnormal_tongue_morphology1.42951356
58MP0008872_abnormal_physiological_respon1.42913852
59MP0003045_fibrosis1.42631697
60MP0002168_other_aberrant_phenotype1.38601674
61MP0005174_abnormal_tail_pigmentation1.36034474
62MP0003705_abnormal_hypodermis_morpholog1.33483785
63MP0005410_abnormal_fertilization1.33354913
64MP0004782_abnormal_surfactant_physiolog1.26212062
65MP0005360_urolithiasis1.25648662
66MP0000367_abnormal_coat/_hair1.25348189
67MP0004142_abnormal_muscle_tone1.24503917
68MP0009840_abnormal_foam_cell1.23702300
69MP0003136_yellow_coat_color1.22090792
70MP0000371_diluted_coat_color1.20436106
71MP0005253_abnormal_eye_physiology1.19989448
72MP0005395_other_phenotype1.19400412
73MP0001851_eye_inflammation1.19353538
74MP0000372_irregular_coat_pigmentation1.18024394
75MP0001984_abnormal_olfaction1.14573585
76MP0001486_abnormal_startle_reflex1.13728364
77MP0004147_increased_porphyrin_level1.11065789
78MP0001340_abnormal_eyelid_morphology1.09873530
79MP0009745_abnormal_behavioral_response1.08497816
80MP0002277_abnormal_respiratory_mucosa1.08079747
81MP0000230_abnormal_systemic_arterial1.07177641
82MP0003878_abnormal_ear_physiology1.05811012
83MP0005377_hearing/vestibular/ear_phenot1.05811012
84MP0003868_abnormal_feces_composition1.04716434
85MP0005167_abnormal_blood-brain_barrier1.04389031
86MP0001485_abnormal_pinna_reflex1.02252941
87MP0000639_abnormal_adrenal_gland0.99966059
88MP0003191_abnormal_cellular_cholesterol0.99613643
89MP0002118_abnormal_lipid_homeostasis0.98184704
90MP0003315_abnormal_perineum_morphology0.96471008
91MP0000537_abnormal_urethra_morphology0.96352621
92MP0003633_abnormal_nervous_system0.95276392
93MP0002557_abnormal_social/conspecific_i0.94622387
94MP0002272_abnormal_nervous_system0.93672276
95MP0010352_gastrointestinal_tract_polyps0.91927075
96MP0003787_abnormal_imprinting0.91561559
97MP0001756_abnormal_urination0.91547128
98MP0005266_abnormal_metabolism0.91387932
99MP0005386_behavior/neurological_phenoty0.87683373
100MP0004924_abnormal_behavior0.87683373
101MP0005171_absent_coat_pigmentation0.87634155
102MP0002166_altered_tumor_susceptibility0.87107351
103MP0003890_abnormal_embryonic-extraembry0.85760169
104MP0002102_abnormal_ear_morphology0.85672454
105MP0005332_abnormal_amino_acid0.85530692
106MP0004264_abnormal_extraembryonic_tissu0.84917156
107MP0005379_endocrine/exocrine_gland_phen0.84655726
108MP0002006_tumorigenesis0.82448276
109MP0003879_abnormal_hair_cell0.81135705
110MP0004019_abnormal_vitamin_homeostasis0.80856056
111MP0000627_abnormal_mammary_gland0.80801038
112MP0000538_abnormal_urinary_bladder0.80100846
113MP0005389_reproductive_system_phenotype0.79907286
114MP0005367_renal/urinary_system_phenotyp0.79806466
115MP0000516_abnormal_urinary_system0.79806466
116MP0009384_cardiac_valve_regurgitation0.79615473
117MP0004145_abnormal_muscle_electrophysio0.78654565
118MP0002229_neurodegeneration0.78338882
119MP0009780_abnormal_chondrocyte_physiolo0.78166214
120MP0003698_abnormal_male_reproductive0.77654453
121MP0001324_abnormal_eye_pigmentation0.77251100
122MP0002163_abnormal_gland_morphology0.75912180
123MP0005645_abnormal_hypothalamus_physiol0.74724236
124MP0002249_abnormal_larynx_morphology0.74445167
125MP0001764_abnormal_homeostasis0.74392833
126MP0002928_abnormal_bile_duct0.73584793
127MP0002067_abnormal_sensory_capabilities0.73481774
128MP0003943_abnormal_hepatobiliary_system0.73256007
129MP0003631_nervous_system_phenotype0.73005895
130MP0002572_abnormal_emotion/affect_behav0.71702271
131MP0002638_abnormal_pupillary_reflex0.71068930
132MP0005636_abnormal_mineral_homeostasis0.70955368
133MP0004085_abnormal_heartbeat0.70179347
134MP0003953_abnormal_hormone_level0.70147444
135MP0005023_abnormal_wound_healing0.69481821
136MP0003195_calcinosis0.67812165
137MP0002177_abnormal_outer_ear0.66659904
138MP0002234_abnormal_pharynx_morphology0.62515606
139MP0003638_abnormal_response/metabolism_0.59456996
140MP0005075_abnormal_melanosome_morpholog0.57703996
141MP0009053_abnormal_anal_canal0.55330217
142MP0000465_gastrointestinal_hemorrhage0.55206751
143MP0002877_abnormal_melanocyte_morpholog0.54667193
144MP0001177_atelectasis0.52968951
145MP0000613_abnormal_salivary_gland0.51011397
146MP0005666_abnormal_adipose_tissue0.46036429
147MP0005508_abnormal_skeleton_morphology0.44722662
148MP0003938_abnormal_ear_development0.44446506
149MP0002282_abnormal_trachea_morphology0.44289489
150MP0002148_abnormal_hypersensitivity_rea0.43848513
151MP0001784_abnormal_fluid_regulation0.43655234
152MP0000470_abnormal_stomach_morphology0.42332857
153MP0005248_abnormal_Harderian_gland0.41069304
154MP0001666_abnormal_nutrient_absorption0.39604154
155MP0006054_spinal_hemorrhage0.38919169
156MP0002095_abnormal_skin_pigmentation0.38108601
157MP0005076_abnormal_cell_differentiation0.37398158
158MP0004272_abnormal_basement_membrane0.37196671
159MP0005409_darkened_coat_color0.36519880
160MP0003436_decreased_susceptibility_to0.36271060
161MP0002295_abnormal_pulmonary_circulatio0.36256130
162MP0002233_abnormal_nose_morphology0.35104736
163MP0002111_abnormal_tail_morphology0.34791761
164MP0003755_abnormal_palate_morphology0.32577478
165MP0009250_abnormal_appendicular_skeleto0.32369880
166MP0003718_maternal_effect0.31914116
167MP0005408_hypopigmentation0.30937422
168MP0005375_adipose_tissue_phenotype0.29545515
169MP0001919_abnormal_reproductive_system0.29364878
170MP0003950_abnormal_plasma_membrane0.28761479
171MP0005085_abnormal_gallbladder_physiolo0.28131898
172MP0003763_abnormal_thymus_physiology0.27887253
173MP0003936_abnormal_reproductive_system0.27674390
174MP0005647_abnormal_sex_gland0.26937314
175MP0002822_catalepsy0.26459254
176MP0006072_abnormal_retinal_apoptosis0.26213252
177MP0002090_abnormal_vision0.25105782
178MP0010030_abnormal_orbit_morphology0.24723983

Predicted human phenotypes

RankGene SetZ-score
1Congenital nonbullous ichthyosiform erythroderma (HP:0007479)7.38319200
2Parakeratosis (HP:0001036)7.28913603
3Congenital ichthyosiform erythroderma (HP:0007431)7.08776950
4Lip pit (HP:0100267)6.54426094
5Hypotrichosis (HP:0001006)6.53552234
6Woolly hair (HP:0002224)5.86803923
7Erythema (HP:0010783)5.67573608
8Abnormality of secondary sexual hair (HP:0009888)5.54836789
9Abnormality of the axillary hair (HP:0100134)5.54836789
10Right ventricular cardiomyopathy (HP:0011663)5.53371145
11Plantar hyperkeratosis (HP:0007556)5.22561773
12Palmoplantar hyperkeratosis (HP:0000972)4.98351832
13Increased IgE level (HP:0003212)4.82794708
14Onycholysis (HP:0001806)4.70319018
15Palmar hyperkeratosis (HP:0010765)4.62924098
16Genetic anticipation (HP:0003743)4.54443604
17Erythroderma (HP:0001019)4.47641005
18Abnormality of nail color (HP:0100643)4.43731618
19Hyperventilation (HP:0002883)4.43143466
20Chronic hepatic failure (HP:0100626)4.40991218
21Pancreatic cysts (HP:0001737)4.25110490
22Fragile nails (HP:0001808)4.01182484
23Popliteal pterygium (HP:0009756)4.00995992
24Ectropion (HP:0000656)3.94295185
25Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.91621214
26Gaze-evoked nystagmus (HP:0000640)3.88257130
27Hypohidrosis (HP:0000966)3.72519193
28Corneal erosion (HP:0200020)3.72271598
29Abnormal hemoglobin (HP:0011902)3.65942186
30Progressive cerebellar ataxia (HP:0002073)3.64970777
31True hermaphroditism (HP:0010459)3.63804427
32Pancreatic fibrosis (HP:0100732)3.63344751
33Abnormal blistering of the skin (HP:0008066)3.54478204
34Natal tooth (HP:0000695)3.50518567
35Spontaneous abortion (HP:0005268)3.47803821
36Sparse scalp hair (HP:0002209)3.42454284
37Sparse eyelashes (HP:0000653)3.42148637
38Abnormality of the renal cortex (HP:0011035)3.36863534
39Fair hair (HP:0002286)3.33961614
40Acanthosis nigricans (HP:0000956)3.25653889
41Pruritus (HP:0000989)3.23337325
42Hyporeflexia of lower limbs (HP:0002600)3.19581285
43Aplasia/Hypoplasia of the tibia (HP:0005772)3.18945712
44Milia (HP:0001056)3.13194135
45Hypobetalipoproteinemia (HP:0003563)3.08588134
46Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.05629879
47Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.04670842
48Abnormality of alanine metabolism (HP:0010916)3.04670842
49Hyperalaninemia (HP:0003348)3.04670842
50Cystic liver disease (HP:0006706)3.03593064
51Pili torti (HP:0003777)3.03418732
52Gangrene (HP:0100758)3.03006924
53Abnormality of cells of the erythroid lineage (HP:0012130)3.02823483
54Reticulocytopenia (HP:0001896)3.02776521
55Attenuation of retinal blood vessels (HP:0007843)3.01306096
56Abnormality of midbrain morphology (HP:0002418)2.92911916
57Molar tooth sign on MRI (HP:0002419)2.92911916
58Conjunctival hamartoma (HP:0100780)2.92395088
59Advanced eruption of teeth (HP:0006288)2.91616388
60Palmoplantar keratoderma (HP:0000982)2.88975967
61Curly hair (HP:0002212)2.84484054
62Concave nail (HP:0001598)2.82886216
63Clumsiness (HP:0002312)2.80740911
64Distal lower limb muscle weakness (HP:0009053)2.79562472
65Ventricular tachycardia (HP:0004756)2.79116978
66Abnormality of the renal medulla (HP:0100957)2.76080260
67Abnormality of the salivary glands (HP:0010286)2.71068834
68Congenital stationary night blindness (HP:0007642)2.69335333
69Protruding tongue (HP:0010808)2.68796777
70Congenital, generalized hypertrichosis (HP:0004540)2.68766835
71Nephronophthisis (HP:0000090)2.66479078
72Nail dystrophy (HP:0008404)2.64341264
73Anhidrosis (HP:0000970)2.64141776
74Abolished electroretinogram (ERG) (HP:0000550)2.62054457
75Oligodontia (HP:0000677)2.61045948
76Central scotoma (HP:0000603)2.59952252
77Hypoplastic labia majora (HP:0000059)2.57837953
78Increased neuronal autofluorescent lipopigment (HP:0002074)2.56619641
79Enlarged kidneys (HP:0000105)2.52114943
80Renal cortical cysts (HP:0000803)2.52073388
81Severe Myopia (HP:0011003)2.51569826
82Chronic bronchitis (HP:0004469)2.49078412
83Dry skin (HP:0000958)2.48395142
84Generalized hypopigmentation of hair (HP:0011358)2.46991521
85Abnormality of the ischium (HP:0003174)2.41726626
86Decreased central vision (HP:0007663)2.41274970
87Hypothermia (HP:0002045)2.39641726
88Febrile seizures (HP:0002373)2.38698150
89Septate vagina (HP:0001153)2.38392094
90Abnormality of the labia majora (HP:0012881)2.37545573
91Furrowed tongue (HP:0000221)2.37019757
92Cerebellar dysplasia (HP:0007033)2.35808858
93Increased corneal curvature (HP:0100692)2.34640798
94Keratoconus (HP:0000563)2.34640798
95Thick nail (HP:0001805)2.34203341
96Medial flaring of the eyebrow (HP:0010747)2.33717224
97Congenital sensorineural hearing impairment (HP:0008527)2.30425552
98Macrocytic anemia (HP:0001972)2.29819830
99Dehydration (HP:0001944)2.29715648
100Abnormality of the common coagulation pathway (HP:0010990)2.28135823
101Abnormal respiratory motile cilium physiology (HP:0012261)2.27763408
102Inability to walk (HP:0002540)2.27602855
103Decreased circulating renin level (HP:0003351)2.26493866
104Hypoparathyroidism (HP:0000829)2.26151854
105Hypoplastic ischia (HP:0003175)2.24961317
106Hypolipoproteinemia (HP:0010981)2.24575503
107Widely spaced teeth (HP:0000687)2.23574121
108Absent speech (HP:0001344)2.22990529
109Aplasia/Hypoplasia of the tongue (HP:0010295)2.22939257
110Bifid scrotum (HP:0000048)2.22824779
111Abnormal number of erythroid precursors (HP:0012131)2.22602664
112Ventricular fibrillation (HP:0001663)2.22503568
113Facial diplegia (HP:0001349)2.22159595
114Prostate neoplasm (HP:0100787)2.20915052
115Bony spicule pigmentary retinopathy (HP:0007737)2.20096480
116Intrahepatic cholestasis (HP:0001406)2.15863606
117Ridged nail (HP:0001807)2.15811682
118Down-sloping shoulders (HP:0200021)2.15253869
119Stenosis of the external auditory canal (HP:0000402)2.14203441
120Epidermoid cyst (HP:0200040)2.13456792
121Pterygium (HP:0001059)2.11117041
122Pigmentary retinal degeneration (HP:0001146)2.10866091
123Abnormality of the gastric mucosa (HP:0004295)2.10141062
124Congenital hepatic fibrosis (HP:0002612)2.08558213
125Aplasia involving bones of the upper limbs (HP:0009823)2.08122498
126Aplasia of the phalanges of the hand (HP:0009802)2.08122498
127Aplasia involving bones of the extremities (HP:0009825)2.08122498
128Proximal tubulopathy (HP:0000114)2.07678237
129Acanthocytosis (HP:0001927)2.07219575
130Tubular atrophy (HP:0000092)2.06979614
131Preaxial foot polydactyly (HP:0001841)2.06417332
132Thyroid-stimulating hormone excess (HP:0002925)2.05487456
133Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.05174176
134Areflexia of lower limbs (HP:0002522)2.04863168
135Dialeptic seizures (HP:0011146)2.03883334
136Focal seizures (HP:0007359)2.03320951
137Progressive inability to walk (HP:0002505)1.99498641
138Conical tooth (HP:0000698)1.98980916
139Abnormality of the nasal septum (HP:0000419)1.98201667
140Hypodontia (HP:0000668)1.97024361
141Gingival bleeding (HP:0000225)1.95836483
142Alopecia of scalp (HP:0002293)1.95571724
143Type II lissencephaly (HP:0007260)1.95554601
144Ileus (HP:0002595)1.95128671
145Testicular atrophy (HP:0000029)1.95000245
146Abnormal hair laboratory examination (HP:0003328)1.94275018
147Ulnar claw (HP:0001178)1.93689526
148Retinal atrophy (HP:0001105)1.93515099
149Scotoma (HP:0000575)1.91414033
150Abnormal biliary tract physiology (HP:0012439)1.90956165
151Bile duct proliferation (HP:0001408)1.90956165
152Prolonged partial thromboplastin time (HP:0003645)1.90454392
153Amelogenesis imperfecta (HP:0000705)1.88065711
154Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.88059670
155Blepharitis (HP:0000498)1.86325499
156Genital tract atresia (HP:0001827)1.85852252
157Pallor (HP:0000980)1.85107468
158Stomach cancer (HP:0012126)1.84988678
159Sclerocornea (HP:0000647)1.84359281
160Skin pits (HP:0100276)1.82984717
161Pustule (HP:0200039)1.82798649
162Broad-based gait (HP:0002136)1.82590785
163Male pseudohermaphroditism (HP:0000037)1.82398227
164Absence seizures (HP:0002121)1.82383489
165Abnormality of the pubic bones (HP:0003172)1.82170252
166Chorioretinal atrophy (HP:0000533)1.82002492
167Large for gestational age (HP:0001520)1.81056385
168Abnormality of macular pigmentation (HP:0008002)1.80316983
169Malignant hyperthermia (HP:0002047)1.80105554
170Macular degeneration (HP:0000608)1.80079017
171Abnormal drinking behavior (HP:0030082)1.79624924
172Polydipsia (HP:0001959)1.79624924
173Labial hypoplasia (HP:0000066)1.78372329
174Abnormality of the 2nd finger (HP:0004100)1.76847488
175Vaginal atresia (HP:0000148)1.75947765
176Congenital primary aphakia (HP:0007707)1.75325386
177Hyperglycinemia (HP:0002154)1.75223147
178Rhinitis (HP:0012384)1.74913186
179Corneal dystrophy (HP:0001131)1.74852837
180Gait imbalance (HP:0002141)1.74578059
181Increased cerebral lipofuscin (HP:0011813)1.74434124
182Atrophic scars (HP:0001075)1.74014232
183Postaxial foot polydactyly (HP:0001830)1.72931593
184Short foot (HP:0001773)1.72082169
185Tubulointerstitial nephritis (HP:0001970)1.72080290
186Lack of skin elasticity (HP:0100679)1.71067904
187Hyperkalemia (HP:0002153)1.67970828
188Absent hair (HP:0002298)1.67205695
189Hypoplasia of dental enamel (HP:0006297)1.66460478
190Cupped ear (HP:0000378)1.65058964
191Hypoplastic female external genitalia (HP:0012815)1.64647599
192Cutaneous finger syndactyly (HP:0010554)1.62511163
193Absent eyebrow (HP:0002223)1.60795761
194Fasciculations (HP:0002380)1.58679145
195Aplasia cutis congenita (HP:0001057)1.56858894
196Type I diabetes mellitus (HP:0100651)1.56484639
197Brittle hair (HP:0002299)1.55128704
198Dry hair (HP:0011359)1.49903466

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R5.91254546
2MAPKAPK34.91469914
3MST44.17438051
4ACVR1B3.67070829
5MAP3K33.56547653
6LATS13.50394421
7FER3.49014771
8MAP3K23.13599864
9BMPR1B2.81643575
10RPS6KB22.70212298
11PIM22.53181609
12PDK22.42955428
13AKT32.22941045
14TESK12.15464995
15TNK22.13390816
16TRPM72.12345432
17ADRBK22.01262350
18TAOK32.01027879
19RIPK41.98444475
20WNK31.92076532
21MAPK151.87380454
22MAPKAPK51.82877594
23MET1.78094095
24NUAK11.70812749
25BCR1.65852450
26INSRR1.64083277
27NTRK31.64000201
28GRK11.60121728
29LIMK11.55801574
30MAP4K21.53416517
31STK101.51531463
32LRRK21.51134605
33MKNK21.47044283
34ZAK1.44440341
35MAPK131.42877031
36STK241.40430347
37ERBB31.40003312
38LATS21.35086663
39EPHB21.32386225
40CASK1.31158111
41EPHA21.27729890
42MAP2K61.27119909
43PIK3CG1.21086746
44PINK11.20308634
45DAPK21.18777644
46PIK3CA1.18728907
47PTK61.08644323
48TGFBR11.08503644
49WNK41.03523891
50DYRK1B1.03239409
51PTK2B1.03016846
52EEF2K1.02432194
53MAP3K40.98857381
54ITK0.97720941
55MAP3K70.96620085
56PRKAA20.95089280
57GRK70.94842879
58FGFR20.88670527
59EPHA40.88490692
60STK380.87945980
61NTRK20.85252052
62MAPKAPK20.82440061
63TGFBR20.80337891
64SGK20.77970211
65CDK60.77873703
66DMPK0.77747037
67PRKCG0.77571409
68MAP3K140.77160144
69NLK0.75663664
70NME20.74193157
71PBK0.73775971
72BRSK20.70952591
73STK38L0.70371314
74MAP2K20.67509478
75IRAK30.64951923
76MELK0.64426903
77MAP3K10.64106439
78FRK0.63423690
79TEC0.61832689
80ERBB40.60366191
81STK30.60233851
82MOS0.60005607
83PLK20.58802442
84LMTK20.57162603
85EIF2AK20.56367981
86AURKA0.56305073
87PRKD10.55905433
88CAMK1G0.55051191
89BLK0.54520632
90MAP3K120.53440536
91MAPK110.52577888
92PRKCE0.51767753
93CDK30.50617917
94MKNK10.49965957
95KIT0.49847729
96RPS6KA20.49091761
97ADRBK10.48666939
98CAMK2A0.48314475
99PRKAA10.48161445
100FGFR40.47222347
101EPHA30.45369129
102ABL10.44692685
103RPS6KA40.43967018
104PKN10.43035099
105EIF2AK30.43015874
106PAK30.42599805
107TXK0.42235000
108PRKACB0.42021822
109MAP3K110.41952132
110OBSCN0.40818944
111SGK2230.40674868
112SGK4940.40674868
113MAP3K90.39700750
114BTK0.39639150
115IKBKB0.39323711
116GRK50.39214814
117PDK10.38899932
118WNK10.38462645
119PDGFRB0.38449515
120YES10.37981832
121CSNK1D0.37890423
122TAOK10.37638490
123PNCK0.37083193
124MAP3K50.36682709
125STK110.36355142
126CHUK0.35864518
127ERBB20.35793894
128PRKCI0.34953375
129PRKACA0.34825693
130MAP2K10.34594558
131CAMKK20.33831988
132TRIM280.32726406
133RPS6KC10.32277651
134RPS6KL10.32277651
135MAP3K60.31965384
136SGK10.31663202
137RPS6KA10.31502259
138IGF1R0.31230030
139ERN10.31032806
140CAMK1D0.30532352
141PRKG10.30412064
142CSNK1A10.30289598
143BRAF0.30107158
144SGK30.29575100
145PRKCZ0.29151031
146HIPK20.29008115
147JAK20.28908965
148CAMK10.28742118
149ROCK10.28644976
150STK390.28579873
151DYRK1A0.28551388
152CSNK1A1L0.28529514
153PRKCB0.28449400
154PRKCQ0.27562577
155CAMK40.26854319
156OXSR10.26618085
157RPS6KA50.25590472
158MYLK0.25313834
159MUSK0.25042999
160CSNK1G10.24823767
161MAP2K40.24485636
162TNIK0.24448504
163SRC0.24423841
164FLT30.24116342
165MAPK40.23573283
166TIE10.23083858
167TTN0.22094237
168ARAF0.21691449
169PRKCA0.21448251

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004604.94148066
2Ribosome_Homo sapiens_hsa030104.04066864
3* Sphingolipid metabolism_Homo sapiens_hsa006003.31802744
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.26988496
5Linoleic acid metabolism_Homo sapiens_hsa005913.25072996
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.17284115
7Butanoate metabolism_Homo sapiens_hsa006503.10429516
8Arachidonic acid metabolism_Homo sapiens_hsa005903.00137236
9Fatty acid elongation_Homo sapiens_hsa000622.94570018
10Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.56054761
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.33007550
12Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.32955909
13Histidine metabolism_Homo sapiens_hsa003402.31760599
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.28615869
15Nitrogen metabolism_Homo sapiens_hsa009102.21666797
16Retinol metabolism_Homo sapiens_hsa008302.18739765
17Phenylalanine metabolism_Homo sapiens_hsa003602.16303474
18Ether lipid metabolism_Homo sapiens_hsa005652.07253054
19Chemical carcinogenesis_Homo sapiens_hsa052042.06992469
20Propanoate metabolism_Homo sapiens_hsa006401.81674473
21Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.67918148
22Pentose and glucuronate interconversions_Homo sapiens_hsa000401.41288336
23Fatty acid biosynthesis_Homo sapiens_hsa000611.38410310
24Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37481112
25Glycerolipid metabolism_Homo sapiens_hsa005611.36299368
26Steroid biosynthesis_Homo sapiens_hsa001001.31399221
27Tyrosine metabolism_Homo sapiens_hsa003501.29743663
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.24405203
29Nicotine addiction_Homo sapiens_hsa050331.22346275
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.19603170
31Glutathione metabolism_Homo sapiens_hsa004801.17613510
32Tight junction_Homo sapiens_hsa045301.17247617
33Basal cell carcinoma_Homo sapiens_hsa052171.16347569
34Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.14597162
35ABC transporters_Homo sapiens_hsa020101.10642405
36Collecting duct acid secretion_Homo sapiens_hsa049661.08731056
37VEGF signaling pathway_Homo sapiens_hsa043701.07201579
38Olfactory transduction_Homo sapiens_hsa047401.03223824
39Lysine degradation_Homo sapiens_hsa003101.02297514
40Axon guidance_Homo sapiens_hsa043600.97916938
41Adherens junction_Homo sapiens_hsa045200.97360339
42Taste transduction_Homo sapiens_hsa047420.96665927
43* Sphingolipid signaling pathway_Homo sapiens_hsa040710.94434889
44Pancreatic secretion_Homo sapiens_hsa049720.94361525
45beta-Alanine metabolism_Homo sapiens_hsa004100.93133234
46Hippo signaling pathway_Homo sapiens_hsa043900.91194374
47Renin secretion_Homo sapiens_hsa049240.90350073
48Primary bile acid biosynthesis_Homo sapiens_hsa001200.86935634
49Staphylococcus aureus infection_Homo sapiens_hsa051500.86387034
50Homologous recombination_Homo sapiens_hsa034400.84836115
51GnRH signaling pathway_Homo sapiens_hsa049120.83715889
52Bladder cancer_Homo sapiens_hsa052190.83673427
53Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83300611
54Fat digestion and absorption_Homo sapiens_hsa049750.83272628
55Mineral absorption_Homo sapiens_hsa049780.83026321
56Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.82902908
57Selenocompound metabolism_Homo sapiens_hsa004500.82779692
58Fatty acid degradation_Homo sapiens_hsa000710.82633777
59Ovarian steroidogenesis_Homo sapiens_hsa049130.81079751
60Serotonergic synapse_Homo sapiens_hsa047260.80674861
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79387584
62p53 signaling pathway_Homo sapiens_hsa041150.78767733
63Bile secretion_Homo sapiens_hsa049760.78714407
64Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76678164
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75271646
66Pertussis_Homo sapiens_hsa051330.75222239
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.73241777
68PPAR signaling pathway_Homo sapiens_hsa033200.73074199
69Melanogenesis_Homo sapiens_hsa049160.71944351
70Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.71931161
71Fatty acid metabolism_Homo sapiens_hsa012120.71572034
72ECM-receptor interaction_Homo sapiens_hsa045120.71523102
73Glutamatergic synapse_Homo sapiens_hsa047240.70513241
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.70366625
75Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70156560
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69743559
77Circadian entrainment_Homo sapiens_hsa047130.69425408
78Morphine addiction_Homo sapiens_hsa050320.69234403
79Starch and sucrose metabolism_Homo sapiens_hsa005000.68879559
80Leukocyte transendothelial migration_Homo sapiens_hsa046700.68593805
81Caffeine metabolism_Homo sapiens_hsa002320.68440440
82Phototransduction_Homo sapiens_hsa047440.65433933
83Hepatitis C_Homo sapiens_hsa051600.65086431
84Hedgehog signaling pathway_Homo sapiens_hsa043400.64522168
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.61357596
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.60580183
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60452814
88Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58639787
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.58469356
90Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.58369322
91Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.57250953
92Vascular smooth muscle contraction_Homo sapiens_hsa042700.56945397
93Glycerophospholipid metabolism_Homo sapiens_hsa005640.56475315
94Peroxisome_Homo sapiens_hsa041460.56405323
95Folate biosynthesis_Homo sapiens_hsa007900.55857922
96Arginine biosynthesis_Homo sapiens_hsa002200.55385812
97Proteoglycans in cancer_Homo sapiens_hsa052050.55085693
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53825595
99Ras signaling pathway_Homo sapiens_hsa040140.52954747
100Thyroid cancer_Homo sapiens_hsa052160.52832081
101Gastric acid secretion_Homo sapiens_hsa049710.50914142
102Arginine and proline metabolism_Homo sapiens_hsa003300.49827012
103Dorso-ventral axis formation_Homo sapiens_hsa043200.49110038
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48966755
105Fanconi anemia pathway_Homo sapiens_hsa034600.47526759
106Insulin secretion_Homo sapiens_hsa049110.47443981
107GABAergic synapse_Homo sapiens_hsa047270.45975112
108Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43414766
109* Metabolic pathways_Homo sapiens_hsa011000.42872830
110ErbB signaling pathway_Homo sapiens_hsa040120.42423345
111Non-homologous end-joining_Homo sapiens_hsa034500.41998058
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40981959
113MicroRNAs in cancer_Homo sapiens_hsa052060.40749035
114Sulfur metabolism_Homo sapiens_hsa009200.40615126
115NOD-like receptor signaling pathway_Homo sapiens_hsa046210.40531880
116Amoebiasis_Homo sapiens_hsa051460.40354851
117Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.40286229
118N-Glycan biosynthesis_Homo sapiens_hsa005100.39798071
119Vibrio cholerae infection_Homo sapiens_hsa051100.39704825
120Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39549425
121Platelet activation_Homo sapiens_hsa046110.39221373
122Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.39198023
123Wnt signaling pathway_Homo sapiens_hsa043100.37916232
124TGF-beta signaling pathway_Homo sapiens_hsa043500.36763835
125Vitamin digestion and absorption_Homo sapiens_hsa049770.35735091
126Renin-angiotensin system_Homo sapiens_hsa046140.35180356
127Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.34512478
128Long-term depression_Homo sapiens_hsa047300.34077802
129Salivary secretion_Homo sapiens_hsa049700.33690043
130Oxidative phosphorylation_Homo sapiens_hsa001900.33618799
131Rap1 signaling pathway_Homo sapiens_hsa040150.31734738
132Jak-STAT signaling pathway_Homo sapiens_hsa046300.31145057
133Cysteine and methionine metabolism_Homo sapiens_hsa002700.29990530
134Thyroid hormone synthesis_Homo sapiens_hsa049180.28549712
135Estrogen signaling pathway_Homo sapiens_hsa049150.27459900
136African trypanosomiasis_Homo sapiens_hsa051430.26989843
137Phosphatidylinositol signaling system_Homo sapiens_hsa040700.26360582
138Circadian rhythm_Homo sapiens_hsa047100.25299436
139Alzheimers disease_Homo sapiens_hsa050100.24140282
140Complement and coagulation cascades_Homo sapiens_hsa046100.23531037
141cGMP-PKG signaling pathway_Homo sapiens_hsa040220.22889719
142cAMP signaling pathway_Homo sapiens_hsa040240.22802916
143Protein digestion and absorption_Homo sapiens_hsa049740.22677655
144Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.21824793
145Tryptophan metabolism_Homo sapiens_hsa003800.21470403
146Melanoma_Homo sapiens_hsa052180.21058120
147Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.20512794
148Calcium signaling pathway_Homo sapiens_hsa040200.20363276

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