ACER1

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: Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of skin barrier (GO:0061436)9.91228183
2regulation of water loss via skin (GO:0033561)8.99225733
3keratinization (GO:0031424)7.60220405
4keratinocyte proliferation (GO:0043616)7.35037090
5polyketide metabolic process (GO:0030638)6.98113236
6doxorubicin metabolic process (GO:0044598)6.98113236
7daunorubicin metabolic process (GO:0044597)6.98113236
8keratinocyte development (GO:0003334)6.06715978
9multicellular organismal water homeostasis (GO:0050891)6.06186533
10long-chain fatty acid biosynthetic process (GO:0042759)6.06155212
11* sphingoid metabolic process (GO:0046519)5.94143268
12glucosamine-containing compound catabolic process (GO:1901072)5.73623187
13behavioral response to nicotine (GO:0035095)5.68944683
14* keratinocyte differentiation (GO:0030216)5.67588536
15regulation of chemokine secretion (GO:0090196)5.43088353
16regulation of phospholipase A2 activity (GO:0032429)5.42088738
17detection of bacterium (GO:0016045)5.38973909
18interferon-gamma secretion (GO:0072643)5.36689961
19positive regulation of interleukin-8 secretion (GO:2000484)5.25784792
20fatty acid elongation (GO:0030497)5.18090198
21water homeostasis (GO:0030104)4.99442316
22bundle of His cell to Purkinje myocyte communication (GO:0086069)4.88543727
23negative regulation of keratinocyte proliferation (GO:0010839)4.88412322
24regulation of cell proliferation involved in kidney development (GO:1901722)4.77308119
25detection of other organism (GO:0098543)4.70992576
26positive regulation of chemokine secretion (GO:0090197)4.50437319
27regulation of interleukin-8 secretion (GO:2000482)4.38019108
28negative regulation of telomere maintenance (GO:0032205)4.37459570
29aminoglycoside antibiotic metabolic process (GO:0030647)4.32848229
30peptide cross-linking (GO:0018149)4.29951522
31* epidermal cell differentiation (GO:0009913)4.29894574
32hair cycle (GO:0042633)4.23730259
33molting cycle (GO:0042303)4.23730259
34kynurenine metabolic process (GO:0070189)4.20754793
35indole-containing compound catabolic process (GO:0042436)4.06430217
36indolalkylamine catabolic process (GO:0046218)4.06430217
37tryptophan catabolic process (GO:0006569)4.06430217
38regulation of ruffle assembly (GO:1900027)4.04136311
39water-soluble vitamin biosynthetic process (GO:0042364)4.02649907
40L-fucose metabolic process (GO:0042354)4.00971391
41L-fucose catabolic process (GO:0042355)4.00971391
42fucose catabolic process (GO:0019317)4.00971391
43response to pheromone (GO:0019236)3.95848012
44* epidermis development (GO:0008544)3.91852445
45detection of external biotic stimulus (GO:0098581)3.86166289
46* sphingosine metabolic process (GO:0006670)3.86112213
47DNA deamination (GO:0045006)3.81507432
48indolalkylamine metabolic process (GO:0006586)3.80049863
49rRNA catabolic process (GO:0016075)3.79609398
50intermediate filament organization (GO:0045109)3.79377138
51amino sugar catabolic process (GO:0046348)3.77259375
52hemidesmosome assembly (GO:0031581)3.74495874
53adaptation of signaling pathway (GO:0023058)3.73602795
54platelet dense granule organization (GO:0060155)3.72556895
55cyclooxygenase pathway (GO:0019371)3.71745572
56respiratory chain complex IV assembly (GO:0008535)3.66061166
57tryptophan metabolic process (GO:0006568)3.61619119
58regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.61053900
59preassembly of GPI anchor in ER membrane (GO:0016254)3.60447453
60* diol metabolic process (GO:0034311)3.59815147
61detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.55658127
62mesonephros development (GO:0001823)3.51861010
63cytochrome complex assembly (GO:0017004)3.47237537
64epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.46497456
65prostaglandin biosynthetic process (GO:0001516)3.45588292
66prostanoid biosynthetic process (GO:0046457)3.45588292
67lipoxygenase pathway (GO:0019372)3.43539751
68regulation of hypersensitivity (GO:0002883)3.42523655
69negative regulation of T cell mediated immunity (GO:0002710)3.42487735
70negative regulation of kidney development (GO:0090185)3.42294805
71protein localization to cilium (GO:0061512)3.40312134
72RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.38889518
73G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.34805070
74peptidyl-histidine modification (GO:0018202)3.32184367
75axoneme assembly (GO:0035082)3.30158837
76piRNA metabolic process (GO:0034587)3.27763985
77retinal metabolic process (GO:0042574)3.27150193
78synaptic transmission, cholinergic (GO:0007271)3.26691893
79negative regulation of mast cell activation (GO:0033004)3.22230790
80phosphatidylinositol acyl-chain remodeling (GO:0036149)3.21732432
81cellular ketone body metabolic process (GO:0046950)3.16511743
82protein complex biogenesis (GO:0070271)3.16506741
83ribosomal small subunit biogenesis (GO:0042274)3.16100553
84detection of biotic stimulus (GO:0009595)3.15990596
85protein polyglutamylation (GO:0018095)3.13625903
86linoleic acid metabolic process (GO:0043651)3.12464797
87eyelid development in camera-type eye (GO:0061029)3.12399420
88epithelial cilium movement (GO:0003351)3.09895982
89viral transcription (GO:0019083)3.08471357
90detection of light stimulus involved in visual perception (GO:0050908)3.08168877
91detection of light stimulus involved in sensory perception (GO:0050962)3.08168877
92mannosylation (GO:0097502)3.07950631
93positive regulation of interleukin-4 production (GO:0032753)3.07543077
94negative regulation of interferon-gamma production (GO:0032689)3.05980436
95regulation of keratinocyte proliferation (GO:0010837)3.05373850
96phosphatidylserine acyl-chain remodeling (GO:0036150)3.04758694
97negative regulation of interleukin-2 production (GO:0032703)3.02736090
98inositol phosphate catabolic process (GO:0071545)2.99183596
99ketone body metabolic process (GO:1902224)2.99167576
100phospholipid scrambling (GO:0017121)2.98809702
101sympathetic nervous system development (GO:0048485)2.96995184
102regulation of cilium movement (GO:0003352)2.95563082
103positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.95044312
104cardiac right ventricle morphogenesis (GO:0003215)2.94933275
105mitochondrial respiratory chain complex I assembly (GO:0032981)2.94642154
106NADH dehydrogenase complex assembly (GO:0010257)2.94642154
107mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.94642154
108inflammatory response to antigenic stimulus (GO:0002437)2.90324951
109negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.88564929
110translational termination (GO:0006415)2.88234260
111auditory receptor cell stereocilium organization (GO:0060088)2.87686058
112cellular anion homeostasis (GO:0030002)2.85531101
113GPI anchor metabolic process (GO:0006505)2.85080501
114sulfate transmembrane transport (GO:1902358)2.84364750
115photoreceptor cell maintenance (GO:0045494)2.83871106
116regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.83868205
117mitochondrial respiratory chain complex assembly (GO:0033108)2.83437224
118negative regulation of transcription regulatory region DNA binding (GO:2000678)2.82888903
119detection of molecule of bacterial origin (GO:0032490)2.82506206
120regulation of telomere maintenance (GO:0032204)2.82355489
121cornea development in camera-type eye (GO:0061303)2.79060224
122cilium morphogenesis (GO:0060271)2.78950655
123long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.78690605
124ectoderm development (GO:0007398)2.78587124
125indole-containing compound metabolic process (GO:0042430)2.76302672
126inositol phosphate dephosphorylation (GO:0046855)2.75801472
127phosphorylated carbohydrate dephosphorylation (GO:0046838)2.75801472
128retinal cone cell development (GO:0046549)2.73604759
129L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72879590
130positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.72860101
131retinol metabolic process (GO:0042572)2.72569632
132gland morphogenesis (GO:0022612)2.72129933
133CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.71675815
134T-helper cell differentiation (GO:0042093)2.71675815
135neural tube formation (GO:0001841)2.71480322
136polyol catabolic process (GO:0046174)2.70853291
137chemical homeostasis within a tissue (GO:0048875)2.70739006
138C-terminal protein lipidation (GO:0006501)2.70572073
139metallo-sulfur cluster assembly (GO:0031163)2.70250074
140iron-sulfur cluster assembly (GO:0016226)2.70250074
141phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.70185595
142superoxide anion generation (GO:0042554)2.68991599
143ubiquinone biosynthetic process (GO:0006744)2.67784571
144somite development (GO:0061053)2.67352588
145post-embryonic morphogenesis (GO:0009886)2.66888266
146amine catabolic process (GO:0009310)2.66785002
147cellular biogenic amine catabolic process (GO:0042402)2.66785002
148C-terminal protein amino acid modification (GO:0018410)2.66783591
149replication fork processing (GO:0031297)2.65538101
150phosphate ion homeostasis (GO:0055062)2.64266072
151trivalent inorganic anion homeostasis (GO:0072506)2.64266072
152intraciliary transport (GO:0042073)2.64085163
153positive regulation of interleukin-1 beta secretion (GO:0050718)2.63602068
154negative regulation of cell fate specification (GO:0009996)2.62906885
155nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.61915544
156regulation of telomere maintenance via telomerase (GO:0032210)2.61665828
157negative regulation of acute inflammatory response (GO:0002674)2.61539370
158regulation of glucokinase activity (GO:0033131)2.61405019
159regulation of hexokinase activity (GO:1903299)2.61405019
160primary alcohol catabolic process (GO:0034310)2.61117211
161gamma-aminobutyric acid transport (GO:0015812)2.61014947
162regulation of natural killer cell differentiation (GO:0032823)2.60618791
163oxidative demethylation (GO:0070989)2.59778522
164prostaglandin metabolic process (GO:0006693)2.57823101
165prostanoid metabolic process (GO:0006692)2.57823101
166negative regulation of synaptic transmission, GABAergic (GO:0032229)2.57550649
167positive regulation of epidermal cell differentiation (GO:0045606)2.57504721
168behavioral response to ethanol (GO:0048149)2.56017690
169exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.55206775
170limb bud formation (GO:0060174)2.54793711
171amino acid salvage (GO:0043102)2.54105823
172L-methionine salvage (GO:0071267)2.54105823
173L-methionine biosynthetic process (GO:0071265)2.54105823
174proline transport (GO:0015824)2.54100232
175regulation of somitogenesis (GO:0014807)2.54098309
176ubiquinone metabolic process (GO:0006743)2.53570789
177cilium organization (GO:0044782)2.53375177
178negative regulation of stem cell proliferation (GO:2000647)2.52223663
179phosphatidylcholine acyl-chain remodeling (GO:0036151)2.51821308
180intestinal epithelial cell development (GO:0060576)2.51557856
181cilium movement (GO:0003341)2.51060434
182S-adenosylmethionine metabolic process (GO:0046500)2.48414896
183positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.48215447
184regulation of heat generation (GO:0031650)2.48008956
185glycosphingolipid biosynthetic process (GO:0006688)2.46300893
186transmission of nerve impulse (GO:0019226)2.45748173
187regulation of mitochondrial translation (GO:0070129)2.45111906
188positive regulation of sodium ion transmembrane transport (GO:1902307)2.45027476
189DNA methylation involved in gamete generation (GO:0043046)2.44889695
190negative regulation of multicellular organism growth (GO:0040015)2.44469672
191inner ear receptor stereocilium organization (GO:0060122)2.44341140
192desmosome organization (GO:0002934)13.8024231

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.98641895
2ZNF274_21170338_ChIP-Seq_K562_Hela3.89316413
3IGF1R_20145208_ChIP-Seq_DFB_Human2.98747514
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.71080359
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.52857367
6CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.49162497
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.46967356
8P63_26484246_Chip-Seq_KERATINOCYTES_Human2.32245795
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.32174198
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.22021939
11EWS_26573619_Chip-Seq_HEK293_Human2.19691723
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.14806056
13CTBP1_25329375_ChIP-Seq_LNCAP_Human2.13645996
14SOX9_24532713_ChIP-Seq_HFSC_Mouse2.13477814
15FUS_26573619_Chip-Seq_HEK293_Human2.06158014
16TP63_17297297_ChIP-ChIP_HaCaT_Human12.4210639
17BMI1_23680149_ChIP-Seq_NPCS_Mouse1.98799381
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96399271
19VDR_22108803_ChIP-Seq_LS180_Human1.95796033
20TAF15_26573619_Chip-Seq_HEK293_Human1.93547660
21STAT6_21828071_ChIP-Seq_BEAS2B_Human1.93408562
22SALL1_21062744_ChIP-ChIP_HESCs_Human1.90016839
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.81536152
24EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.80989778
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.76818718
26ER_23166858_ChIP-Seq_MCF-7_Human1.75093230
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74335318
28EZH2_27304074_Chip-Seq_ESCs_Mouse1.73989653
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.73526204
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.72341519
31CBP_20019798_ChIP-Seq_JUKART_Human1.64941782
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.64941782
33IRF1_19129219_ChIP-ChIP_H3396_Human1.64895432
34PCGF2_27294783_Chip-Seq_NPCs_Mouse1.63521036
35TCF4_18268006_ChIP-ChIP_LS174T_Human1.63080385
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.63058311
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.62133946
38KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.60976662
39SUZ12_27294783_Chip-Seq_NPCs_Mouse1.60843463
40TP53_22573176_ChIP-Seq_HFKS_Human1.59736650
41HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.58758883
42MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.57591148
43NFE2_27457419_Chip-Seq_LIVER_Mouse1.55210898
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52767053
45AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52375160
46RXR_22108803_ChIP-Seq_LS180_Human1.51948845
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.51711370
48JARID2_20064375_ChIP-Seq_MESCs_Mouse1.51597239
49GABP_17652178_ChIP-ChIP_JURKAT_Human1.51555924
50NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.49093530
51SMAD4_21799915_ChIP-Seq_A2780_Human1.46540024
52UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.45766940
53STAT3_23295773_ChIP-Seq_U87_Human1.44542130
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.43977912
55E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.42006819
56GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.41714314
57SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.41006782
58NANOG_19829295_ChIP-Seq_ESCs_Human1.40910803
59SOX2_19829295_ChIP-Seq_ESCs_Human1.40910803
60TCF4_23295773_ChIP-Seq_U87_Human1.40708733
61SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.40462752
62NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40048053
63EST1_17652178_ChIP-ChIP_JURKAT_Human1.39191753
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38357815
65GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.37793038
66REST_21632747_ChIP-Seq_MESCs_Mouse1.37020529
67SUZ12_27294783_Chip-Seq_ESCs_Mouse1.36485626
68MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35448482
69GBX2_23144817_ChIP-Seq_PC3_Human1.35108175
70RNF2_27304074_Chip-Seq_NSC_Mouse1.34499315
71NOTCH1_21737748_ChIP-Seq_TLL_Human1.34085485
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32982762
73CDX2_20551321_ChIP-Seq_CACO-2_Human1.31879232
74JARID2_20075857_ChIP-Seq_MESCs_Mouse1.31435895
75EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.31318654
76EZH2_27294783_Chip-Seq_NPCs_Mouse1.31299972
77* ETV2_25802403_ChIP-Seq_MESCs_Mouse1.30973697
78FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.30066034
79SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.30023128
80FOXA1_25329375_ChIP-Seq_VCAP_Human1.29493154
81FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29493154
82EZH2_27294783_Chip-Seq_ESCs_Mouse1.28527121
83KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27696387
84* NCOR_22424771_ChIP-Seq_293T_Human1.26607065
85AR_21572438_ChIP-Seq_LNCaP_Human1.26024807
86RNF2_27304074_Chip-Seq_ESCs_Mouse1.23969752
87SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23205976
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22880507
89RUNX2_22187159_ChIP-Seq_PCA_Human1.22104527
90TP53_18474530_ChIP-ChIP_U2OS_Human1.21957507
91FOXA1_21572438_ChIP-Seq_LNCaP_Human1.21593978
92MYC_18940864_ChIP-ChIP_HL60_Human1.21591107
93SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.21589658
94SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.21589658
95* AR_20517297_ChIP-Seq_VCAP_Human1.21555233
96FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20979073
97SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.20928925
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19525005
99SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.19283132
100NANOG_18555785_Chip-Seq_ESCs_Mouse1.19208414
101* BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.18811781
102TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17732918
103EZH2_22144423_ChIP-Seq_EOC_Human1.16468289
104FLI1_27457419_Chip-Seq_LIVER_Mouse1.15712357
105SRY_22984422_ChIP-ChIP_TESTIS_Rat1.15335724
106GATA6_21074721_ChIP-Seq_CACO-2_Human1.14518131
107RNF2_18974828_ChIP-Seq_MESCs_Mouse1.12250090
108EZH2_18974828_ChIP-Seq_MESCs_Mouse1.12250090
109POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12184185
110HOXB7_26014856_ChIP-Seq_BT474_Human1.11930383
111PIAS1_25552417_ChIP-Seq_VCAP_Human1.11712055
112E2F1_18555785_Chip-Seq_ESCs_Mouse1.11013394
113NMYC_18555785_Chip-Seq_ESCs_Mouse1.10502202
114RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10219582
115SUZ12_18555785_Chip-Seq_ESCs_Mouse1.10089574
116GATA3_21878914_ChIP-Seq_MCF-7_Human1.10033941
117AUTS2_25519132_ChIP-Seq_293T-REX_Human1.09672190
118P53_22387025_ChIP-Seq_ESCs_Mouse1.09259479
119SOX2_20726797_ChIP-Seq_SW620_Human1.08786333
120PRDM14_20953172_ChIP-Seq_ESCs_Human1.08377438
121SMAD3_21741376_ChIP-Seq_EPCs_Human1.07766906
122RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07602733
123CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07519462
124TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07409760
125CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.07287022
126OCT4_18555785_Chip-Seq_ESCs_Mouse1.05896476
127TP53_20018659_ChIP-ChIP_R1E_Mouse1.05611208
128CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05421332
129OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05344786
130NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.04930876
131TCF4_22108803_ChIP-Seq_LS180_Human1.04776549
132SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.04551555
133CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.04456157
134CJUN_26792858_Chip-Seq_BT549_Human1.04104815
135TP63_23658742_ChIP-Seq_EP156T_Human1.04036559
136VDR_23849224_ChIP-Seq_CD4+_Human1.03932913
137BCAT_22108803_ChIP-Seq_LS180_Human1.03555208
138STAT3_18555785_Chip-Seq_ESCs_Mouse1.03412444
139* MYC_19829295_ChIP-Seq_ESCs_Human1.02629640
140SMAD4_21741376_ChIP-Seq_EPCs_Human1.02532354
141CMYC_18555785_Chip-Seq_ESCs_Mouse1.02263808
142POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01537572
143TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01537572
144RUNX1_27457419_Chip-Seq_LIVER_Mouse1.00958505
145GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.00741800
146STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00673398
147EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.00439288
148RBPJ_21746931_ChIP-Seq_IB4_Human0.99720395
149PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.99605457
150P300_19829295_ChIP-Seq_ESCs_Human0.99290096
151PU1_27457419_Chip-Seq_LIVER_Mouse0.98489006
152SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.98368247
153CDX2_22108803_ChIP-Seq_LS180_Human0.97897083
154ESRRB_18555785_Chip-Seq_ESCs_Mouse0.97864667
155FLI1_21867929_ChIP-Seq_TH2_Mouse0.97089562
156ZFX_18555785_Chip-Seq_ESCs_Mouse0.97012533
157SOX2_18555785_Chip-Seq_ESCs_Mouse0.96904562
158HNFA_21074721_ChIP-Seq_CACO-2_Human0.96887628
159AHR_22903824_ChIP-Seq_MCF-7_Human0.95083789
160KLF4_18555785_Chip-Seq_ESCs_Mouse0.95023771
161TAL1_26923725_Chip-Seq_HPCs_Mouse0.94395816
162CRX_20693478_ChIP-Seq_RETINA_Mouse0.94035090
163GATA4_25053715_ChIP-Seq_YYC3_Human0.93783599
164PHF8_20622853_ChIP-Seq_HELA_Human0.93462648
165AR_25329375_ChIP-Seq_VCAP_Human0.92975986
166P300_18555785_Chip-Seq_ESCs_Mouse0.92825774
167SMAD3_21741376_ChIP-Seq_HESCs_Human0.92612444
168SMAD_19615063_ChIP-ChIP_OVARY_Human0.92436604
169TRIM28_21343339_ChIP-Seq_HEK293_Human0.90774993
170ESR2_21235772_ChIP-Seq_MCF-7_Human0.90591824
171CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.89607965
172FOXM1_26456572_ChIP-Seq_MCF-7_Human0.87611136

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier6.91382464
2MP0003941_abnormal_skin_development5.90407184
3MP0004381_abnormal_hair_follicle4.70324365
4MP0005501_abnormal_skin_physiology4.48466814
5MP0005275_abnormal_skin_tensile3.76945402
6MP0000566_synostosis3.75771240
7MP0008004_abnormal_stomach_pH3.32363671
8MP0000383_abnormal_hair_follicle3.28398438
9MP0001216_abnormal_epidermal_layer3.16340998
10MP0002098_abnormal_vibrissa_morphology3.03189005
11MP0008877_abnormal_DNA_methylation3.01386162
12MP0002060_abnormal_skin_morphology3.00210569
13MP0002254_reproductive_system_inflammat2.86265106
14MP0010771_integument_phenotype2.84194048
15MP0003195_calcinosis2.71668977
16MP0010234_abnormal_vibrissa_follicle2.69917540
17MP0005451_abnormal_body_composition2.65823065
18MP0003453_abnormal_keratinocyte_physiol2.65638730
19MP0000647_abnormal_sebaceous_gland2.52304418
20MP0010678_abnormal_skin_adnexa2.51272515
21MP0000579_abnormal_nail_morphology2.47954323
22MP0003787_abnormal_imprinting2.44337536
23MP0005551_abnormal_eye_electrophysiolog2.38851905
24MP0006072_abnormal_retinal_apoptosis2.20564446
25MP0001346_abnormal_lacrimal_gland2.15757111
26MP0000427_abnormal_hair_cycle2.14821637
27MP0000467_abnormal_esophagus_morphology2.13742805
28MP0003880_abnormal_central_pattern2.07276001
29MP0005253_abnormal_eye_physiology2.04055357
30MP0009379_abnormal_foot_pigmentation2.03138511
31MP0004885_abnormal_endolymph1.99712005
32MP0002277_abnormal_respiratory_mucosa1.95960379
33MP0008875_abnormal_xenobiotic_pharmacok1.95935676
34MP0008872_abnormal_physiological_respon1.92676961
35MP0004147_increased_porphyrin_level1.92287203
36MP0000377_abnormal_hair_follicle1.89094222
37MP0001968_abnormal_touch/_nociception1.81813604
38MP0003878_abnormal_ear_physiology1.81235495
39MP0005377_hearing/vestibular/ear_phenot1.81235495
40MP0004947_skin_inflammation1.78192205
41MP0003136_yellow_coat_color1.78098331
42MP0002876_abnormal_thyroid_physiology1.77366095
43MP0003646_muscle_fatigue1.72823977
44MP0002234_abnormal_pharynx_morphology1.68527602
45MP0009046_muscle_twitch1.66428164
46MP0009745_abnormal_behavioral_response1.66333877
47MP0001188_hyperpigmentation1.65635528
48MP0003011_delayed_dark_adaptation1.63283712
49MP0000762_abnormal_tongue_morphology1.60811700
50MP0004043_abnormal_pH_regulation1.59617544
51MP0002837_dystrophic_cardiac_calcinosis1.58719390
52MP0001191_abnormal_skin_condition1.55396611
53MP0001529_abnormal_vocalization1.54729627
54MP0006276_abnormal_autonomic_nervous1.52729621
55MP0000631_abnormal_neuroendocrine_gland1.51884114
56MP0001984_abnormal_olfaction1.43193204
57MP0008058_abnormal_DNA_repair1.42608514
58MP0000569_abnormal_digit_pigmentation1.41629110
59MP0002009_preneoplasia1.41463037
60MP0004782_abnormal_surfactant_physiolog1.40150072
61MP0002272_abnormal_nervous_system1.39579275
62MP0009931_abnormal_skin_appearance1.36487438
63MP0004145_abnormal_muscle_electrophysio1.34638754
64MP0004185_abnormal_adipocyte_glucose1.32277092
65MP0002751_abnormal_autonomic_nervous1.32172308
66MP0004133_heterotaxia1.31405699
67MP0001485_abnormal_pinna_reflex1.28915339
68MP0003566_abnormal_cell_adhesion1.28719941
69MP0002132_abnormal_respiratory_system1.27941880
70MP0004019_abnormal_vitamin_homeostasis1.25819111
71MP0008775_abnormal_heart_ventricle1.25512385
72MP0000367_abnormal_coat/_hair1.24320518
73MP0005075_abnormal_melanosome_morpholog1.21983347
74MP0004142_abnormal_muscle_tone1.20941735
75MP0000015_abnormal_ear_pigmentation1.20913883
76MP0001501_abnormal_sleep_pattern1.12659107
77MP0004924_abnormal_behavior1.07189531
78MP0005386_behavior/neurological_phenoty1.07189531
79MP0005220_abnormal_exocrine_pancreas1.06346145
80MP0005084_abnormal_gallbladder_morpholo1.05879150
81MP0003879_abnormal_hair_cell1.03860061
82MP0002572_abnormal_emotion/affect_behav1.03162872
83MP0005389_reproductive_system_phenotype1.02629487
84MP0002095_abnormal_skin_pigmentation1.02155974
85MP0001486_abnormal_startle_reflex1.01265864
86MP0000516_abnormal_urinary_system1.01020816
87MP0005367_renal/urinary_system_phenotyp1.01020816
88MP0002653_abnormal_ependyma_morphology1.00202695
89MP0005645_abnormal_hypothalamus_physiol0.99907675
90MP0001919_abnormal_reproductive_system0.99013823
91MP0003121_genomic_imprinting0.98215497
92MP0002282_abnormal_trachea_morphology0.97462912
93MP0000470_abnormal_stomach_morphology0.96638561
94MP0000230_abnormal_systemic_arterial0.96340033
95MP0006035_abnormal_mitochondrial_morpho0.95371184
96MP0002102_abnormal_ear_morphology0.95092831
97MP0005409_darkened_coat_color0.94466776
98MP0002148_abnormal_hypersensitivity_rea0.94325893
99MP0001324_abnormal_eye_pigmentation0.94184205
100MP0002064_seizures0.93575485
101MP0005195_abnormal_posterior_eye0.92942867
102MP0001963_abnormal_hearing_physiology0.92911343
103MP0001340_abnormal_eyelid_morphology0.92618767
104MP0002249_abnormal_larynx_morphology0.92117951
105MP0001243_abnormal_dermal_layer0.91234295
106MP0002928_abnormal_bile_duct0.89638723
107MP0002177_abnormal_outer_ear0.88943490
108MP0006292_abnormal_olfactory_placode0.87899930
109MP0004084_abnormal_cardiac_muscle0.87147861
110MP0001970_abnormal_pain_threshold0.86220295
111MP0004742_abnormal_vestibular_system0.85853950
112MP0002733_abnormal_thermal_nociception0.85743446
113MP0002138_abnormal_hepatobiliary_system0.85586626
114MP0003252_abnormal_bile_duct0.85547297
115MP0000678_abnormal_parathyroid_gland0.84791773
116MP0004215_abnormal_myocardial_fiber0.84164540
117MP0001851_eye_inflammation0.84148782
118MP0003122_maternal_imprinting0.83930345
119MP0003137_abnormal_impulse_conducting0.83920775
120MP0008789_abnormal_olfactory_epithelium0.83588994
121MP0003315_abnormal_perineum_morphology0.83452343
122MP0005410_abnormal_fertilization0.83079524
123MP0003763_abnormal_thymus_physiology0.82216984
124MP0003119_abnormal_digestive_system0.81828344
125MP0002752_abnormal_somatic_nervous0.80815976
126MP0001986_abnormal_taste_sensitivity0.80477463
127MP0003938_abnormal_ear_development0.79913268
128MP0002063_abnormal_learning/memory/cond0.79307001
129MP0000627_abnormal_mammary_gland0.79189341
130MP0003698_abnormal_male_reproductive0.79099209
131MP0002229_neurodegeneration0.78813579
132MP0002160_abnormal_reproductive_system0.78380420
133MP0003718_maternal_effect0.76566100
134MP0000613_abnormal_salivary_gland0.76076128
135MP0003950_abnormal_plasma_membrane0.73675589
136MP0010386_abnormal_urinary_bladder0.71787589
137MP0002163_abnormal_gland_morphology0.71065625
138MP0000538_abnormal_urinary_bladder0.65186304
139MP0005174_abnormal_tail_pigmentation0.61700466
140MP0005248_abnormal_Harderian_gland0.61551309
141MP0005647_abnormal_sex_gland0.57831718
142MP0000465_gastrointestinal_hemorrhage0.57318028
143MP0005646_abnormal_pituitary_gland0.56015050
144MP0000372_irregular_coat_pigmentation0.55998334
145MP0010352_gastrointestinal_tract_polyps0.55575275
146MP0005423_abnormal_somatic_nervous0.53571031
147MP0002638_abnormal_pupillary_reflex0.52914434
148MP0008995_early_reproductive_senescence0.52711956
149MP0000026_abnormal_inner_ear0.51694517
150MP0005379_endocrine/exocrine_gland_phen0.49082608
151MP0003436_decreased_susceptibility_to0.48929492
152MP0003786_premature_aging0.46509047
153MP0009250_abnormal_appendicular_skeleto0.45269194
154MP0005508_abnormal_skeleton_morphology0.43544244
155MP0009697_abnormal_copulation0.43321466
156MP0002736_abnormal_nociception_after0.42119371
157MP0002006_tumorigenesis0.42098682
158MP0001664_abnormal_digestion0.40094937
159MP0001765_abnormal_ion_homeostasis0.40082239
160MP0002111_abnormal_tail_morphology0.39661559
161MP0003936_abnormal_reproductive_system0.39145276
162MP0002233_abnormal_nose_morphology0.38302296
163MP0003755_abnormal_palate_morphology0.37815693
164MP0002938_white_spotting0.36279571
165MP0001784_abnormal_fluid_regulation0.34156831
166MP0000490_abnormal_crypts_of0.33950041
167MP0002557_abnormal_social/conspecific_i0.33886012

Predicted human phenotypes

RankGene SetZ-score
1Parakeratosis (HP:0001036)8.68043545
2Erythema (HP:0010783)5.54758260
3Hypotrichosis (HP:0001006)5.40699369
4Plantar hyperkeratosis (HP:0007556)5.32239488
5Lip pit (HP:0100267)5.29884183
6Palmoplantar hyperkeratosis (HP:0000972)5.27846537
7Congenital ichthyosiform erythroderma (HP:0007431)5.17433068
8Erythroderma (HP:0001019)5.10779926
9Congenital nonbullous ichthyosiform erythroderma (HP:0007479)5.09745423
10Palmar hyperkeratosis (HP:0010765)5.07877197
11Abnormality of the axillary hair (HP:0100134)4.77471929
12Abnormality of secondary sexual hair (HP:0009888)4.77471929
13Woolly hair (HP:0002224)4.43112875
14Ectropion (HP:0000656)4.17821280
15Right ventricular cardiomyopathy (HP:0011663)4.09789329
16Onycholysis (HP:0001806)3.92654908
17Fibular aplasia (HP:0002990)3.88814273
18Pancreatic cysts (HP:0001737)3.85228101
19Nephronophthisis (HP:0000090)3.72319198
20Molar tooth sign on MRI (HP:0002419)3.71063186
21Abnormality of midbrain morphology (HP:0002418)3.71063186
22Hypohidrosis (HP:0000966)3.68333029
23Absent eyebrow (HP:0002223)3.67322117
24Hypoplasia of the fovea (HP:0007750)3.66956323
25Aplasia/Hypoplasia of the fovea (HP:0008060)3.66956323
26Congenital stationary night blindness (HP:0007642)3.61897798
27Popliteal pterygium (HP:0009756)3.57994056
28Corneal erosion (HP:0200020)3.57544945
29Sparse eyelashes (HP:0000653)3.56123209
30Alopecia of scalp (HP:0002293)3.53852011
31Abnormality of the renal cortex (HP:0011035)3.42075535
32Abnormality of nail color (HP:0100643)3.37169041
33Pancreatic fibrosis (HP:0100732)3.27114015
34Unilateral renal agenesis (HP:0000122)3.22810996
35Abnormality of the fovea (HP:0000493)3.16219190
36Reticulocytopenia (HP:0001896)3.15198426
37True hermaphroditism (HP:0010459)3.14813364
38Renal cortical cysts (HP:0000803)3.11412983
39Aplasia cutis congenita (HP:0001057)3.11166707
40Type II lissencephaly (HP:0007260)3.09915915
41Abnormality of the renal medulla (HP:0100957)3.09350317
42Conjunctival hamartoma (HP:0100780)3.06833399
43Increased IgE level (HP:0003212)2.98778353
44Medial flaring of the eyebrow (HP:0010747)2.96979933
45Fragile nails (HP:0001808)2.96762607
46Abnormal blistering of the skin (HP:0008066)2.95340742
47Distal lower limb muscle weakness (HP:0009053)2.94575535
48Sparse scalp hair (HP:0002209)2.92623915
49Chronic hepatic failure (HP:0100626)2.88297432
50Attenuation of retinal blood vessels (HP:0007843)2.86458529
51Tubular atrophy (HP:0000092)2.85582261
52Natal tooth (HP:0000695)2.81296784
53Gangrene (HP:0100758)2.78890543
54Fibular hypoplasia (HP:0003038)2.73738868
55Pili torti (HP:0003777)2.70822614
56Hyperventilation (HP:0002883)2.67461166
57Bilateral microphthalmos (HP:0007633)2.67098230
58Bilateral sensorineural hearing impairment (HP:0008619)2.66623324
59Curly hair (HP:0002212)2.65487528
60Septo-optic dysplasia (HP:0100842)2.60113807
61Pruritus (HP:0000989)2.58782257
62Absent eyelashes (HP:0000561)2.57103930
63Chromosomal breakage induced by crosslinking agents (HP:0003221)2.56362431
64Pendular nystagmus (HP:0012043)2.55539562
65Abolished electroretinogram (ERG) (HP:0000550)2.53509369
66Nail dystrophy (HP:0008404)2.52351511
67Abnormality of dental color (HP:0011073)2.50988320
68Hypoparathyroidism (HP:0000829)2.50923527
69Cystic liver disease (HP:0006706)2.50019632
70Follicular hyperkeratosis (HP:0007502)2.48756150
71Conical tooth (HP:0000698)2.46320876
72Partial agenesis of the corpus callosum (HP:0001338)2.45819212
73Palmoplantar keratoderma (HP:0000982)2.45504917
74Cheilitis (HP:0100825)2.44027126
75Abnormal rod and cone electroretinograms (HP:0008323)2.43755249
76Decreased central vision (HP:0007663)2.43551537
77Broad-based gait (HP:0002136)2.43079504
78Tubulointerstitial nephritis (HP:0001970)2.39828804
79Aplasia/Hypoplasia of the fibula (HP:0006492)2.36916655
80Colon cancer (HP:0003003)2.34609000
81Severe Myopia (HP:0011003)2.33096004
82Anhidrosis (HP:0000970)2.31546849
83Blepharitis (HP:0000498)2.31043510
84Inability to walk (HP:0002540)2.29846884
853-Methylglutaconic aciduria (HP:0003535)2.28729856
86Acute necrotizing encephalopathy (HP:0006965)2.28451827
87Decreased electroretinogram (ERG) amplitude (HP:0000654)2.26905087
88Gait imbalance (HP:0002141)2.26803173
89Chromsome breakage (HP:0040012)2.26231833
90Lissencephaly (HP:0001339)2.26051150
91Ventricular tachycardia (HP:0004756)2.25540029
92Increased CSF lactate (HP:0002490)2.24045525
93Congenital primary aphakia (HP:0007707)2.23913012
94Upper limb muscle weakness (HP:0003484)2.22567402
95Absent/shortened dynein arms (HP:0200106)2.22531682
96Dynein arm defect of respiratory motile cilia (HP:0012255)2.22531682
97Concave nail (HP:0001598)2.20282090
98Duplicated collecting system (HP:0000081)2.20275115
99Abnormality of macular pigmentation (HP:0008002)2.20240643
100Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.20147667
101Decreased circulating renin level (HP:0003351)2.18975594
102Progressive macrocephaly (HP:0004481)2.18859421
103Septate vagina (HP:0001153)2.18768457
104Congenital, generalized hypertrichosis (HP:0004540)2.18606915
105Absent hair (HP:0002298)2.17831077
106Advanced eruption of teeth (HP:0006288)2.17386620
107Aplasia/Hypoplasia of the macula (HP:0008059)2.17144120
108Progressive inability to walk (HP:0002505)2.15162735
109Asymmetry of the thorax (HP:0001555)2.14844276
110Abnormality of the preputium (HP:0100587)2.14376614
111Abnormal drinking behavior (HP:0030082)2.11295278
112Polydipsia (HP:0001959)2.11295278
113Nephrogenic diabetes insipidus (HP:0009806)2.10477283
114Acute encephalopathy (HP:0006846)2.09638191
115Prostate neoplasm (HP:0100787)2.09240376
116Increased corneal curvature (HP:0100692)2.09133220
117Keratoconus (HP:0000563)2.09133220
118Renal dysplasia (HP:0000110)2.07425637
119Dry skin (HP:0000958)2.03974235
120Mitochondrial inheritance (HP:0001427)2.03296476
121Recurrent corneal erosions (HP:0000495)2.02980369
122Hamartoma of the eye (HP:0010568)2.02888115
123Renal agenesis (HP:0000104)2.02710146
124Milia (HP:0001056)2.02350080
125Hypothermia (HP:0002045)2.02013480
126White forelock (HP:0002211)2.01816472
127Hemiparesis (HP:0001269)2.01484130
128Aplasia/Hypoplasia affecting the retina (HP:0008061)2.01035675
129Thick nail (HP:0001805)2.00590983
130Patchy hypopigmentation of hair (HP:0011365)2.00529031
131Gaze-evoked nystagmus (HP:0000640)1.98313010
132Neoplasm of the adrenal cortex (HP:0100641)1.97696304
133Abnormality of cells of the erythroid lineage (HP:0012130)1.95491084
134Widely spaced teeth (HP:0000687)1.94954757
135Absent rod-and cone-mediated responses on ERG (HP:0007688)1.94060604
136Abnormality of the renal collecting system (HP:0004742)1.92213914
137Focal seizures (HP:0007359)1.91836006
138Genital tract atresia (HP:0001827)1.89762442
139Fair hair (HP:0002286)1.89603800
140Cerebellar dysplasia (HP:0007033)1.89256237
141Absent speech (HP:0001344)1.88979409
142Furrowed tongue (HP:0000221)1.88645627
143Ependymoma (HP:0002888)1.87432664
144Aplasia/Hypoplasia of the tongue (HP:0010295)1.86721193
145Large for gestational age (HP:0001520)1.86457311
146Congenital sensorineural hearing impairment (HP:0008527)1.86071270
147Abnormal mitochondria in muscle tissue (HP:0008316)1.85883736
148Nasolacrimal duct obstruction (HP:0000579)1.85832119
149Hyperglycinuria (HP:0003108)1.85060198
150Bony spicule pigmentary retinopathy (HP:0007737)1.84970292
151Brittle hair (HP:0002299)1.84214678
152Hyperactive renin-angiotensin system (HP:0000841)1.83998328
153Oligodontia (HP:0000677)1.83935410
154Pachygyria (HP:0001302)1.83256242
155Corneal dystrophy (HP:0001131)1.82311554
156Methylmalonic acidemia (HP:0002912)1.82039108
157Ketoacidosis (HP:0001993)1.81329105
158Amelogenesis imperfecta (HP:0000705)1.81320415
159Dry hair (HP:0011359)1.81184242
160Abnormal biliary tract physiology (HP:0012439)1.80404048
161Bile duct proliferation (HP:0001408)1.80404048
162Congenital hepatic fibrosis (HP:0002612)1.80002611
163Polyuria (HP:0000103)1.79990273
164Hepatic necrosis (HP:0002605)1.79733027
165Postaxial foot polydactyly (HP:0001830)1.79406697
166Vaginal atresia (HP:0000148)1.79319987
167Abnormality of alanine metabolism (HP:0010916)1.78840106
168Hyperalaninemia (HP:0003348)1.78840106
169Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.78840106
170Tubulointerstitial abnormality (HP:0001969)1.78387323
171Aplasia/Hypoplasia of the tibia (HP:0005772)1.77106368
172Postaxial hand polydactyly (HP:0001162)1.76771900
173Pallor (HP:0000980)1.76457817
174Retinal dysplasia (HP:0007973)1.76439781
175Narrow forehead (HP:0000341)1.75700094
176Chorioretinal atrophy (HP:0000533)1.74524411
177Areflexia of lower limbs (HP:0002522)1.71499867
178Optic nerve hypoplasia (HP:0000609)1.71315734
179Abnormality of the salivary glands (HP:0010286)1.71260346
180Malignant hyperthermia (HP:0002047)1.70005488
181Premature loss of primary teeth (HP:0006323)1.69240298
182Ridged nail (HP:0001807)1.68870300
183Down-sloping shoulders (HP:0200021)1.67964481
184Pterygium (HP:0001059)1.67945155
185Abnormal number of erythroid precursors (HP:0012131)1.67091139
186Dehydration (HP:0001944)1.65325181
187Hypoplastic labia majora (HP:0000059)1.64636906
188Abnormality of the gastric mucosa (HP:0004295)1.64595897
189Abnormal ciliary motility (HP:0012262)1.60810294
190Cupped ear (HP:0000378)1.60252935
191Abnormality of the lacrimal duct (HP:0011481)1.60029220
192Duplication of thumb phalanx (HP:0009942)1.59840731
193Macrocytic anemia (HP:0001972)1.59019282
194Ulnar claw (HP:0001178)1.58444564

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R5.01606938
2SIK33.79838522
3MAP4K23.47416954
4CASK3.17652013
5MAPKAPK32.89476859
6EPHA22.66495236
7TAOK32.56786894
8GRK12.40107638
9MAP3K32.33168335
10MST42.32550064
11WNK32.26580220
12LATS12.24190094
13BLK2.23594329
14IRAK32.18352562
15GRK72.07265829
16TRIM282.06912010
17FER2.06356684
18ZAK2.05571994
19WNK42.04698242
20OXSR11.98224493
21EIF2AK21.95831917
22CDK31.92857342
23STK241.92242724
24STK38L1.90671938
25TRPM71.85168981
26MAP3K141.81690998
27PIM21.67618676
28STK161.66369808
29PINK11.65647211
30RPS6KB21.64352465
31BCKDK1.62805019
32BMPR1B1.61859931
33SIK21.60898470
34PIK3CG1.59420008
35STK391.54190755
36VRK21.53367743
37MAP3K41.52240806
38TNIK1.45307604
39MAP3K121.43227615
40CSNK1G31.41774612
41FGFR21.39524445
42SIK11.39442593
43CSNK1G21.36931001
44CSNK1A1L1.33607284
45LIMK11.32479953
46ADRBK21.29106907
47CSNK1G11.26480910
48EIF2AK31.23989351
49MAPKAPK51.19829392
50YES11.17615125
51MARK11.16185874
52EPHB21.15400773
53ERBB31.12307040
54SRPK11.12283070
55MAPK151.10574245
56PLK21.10530311
57ACVR1B1.06142079
58EIF2AK11.04471267
59PAK31.03528666
60MAP2K71.03324695
61TXK1.03019363
62CDK191.02511719
63PIK3CA1.00972364
64DYRK21.00307359
65MAP2K60.99778010
66TNK20.99628292
67MARK30.98678864
68EPHA40.97340643
69BCR0.96446935
70TTK0.94661377
71MET0.94293243
72PRKG20.90455685
73NTRK20.89189755
74MAP3K20.88568427
75PLK30.87575768
76PRKCG0.87478331
77TGFBR10.83079861
78CAMKK20.79269673
79BRAF0.78637984
80STK110.77290600
81PKN10.76953805
82PRPF4B0.73481990
83PHKG20.71703871
84PHKG10.71703871
85INSRR0.71293442
86GRK50.70113883
87BMPR20.69469379
88PRKCE0.68555173
89TEC0.67162515
90OBSCN0.66520260
91NUAK10.64774493
92DAPK20.63452541
93NME20.63383793
94IRAK40.62990794
95IKBKB0.60475203
96MARK20.59647096
97FRK0.57956666
98PTK2B0.57363182
99PRKAA10.56072075
100TAOK20.52472590
101TGFBR20.51583701
102DMPK0.51311822
103CCNB10.51052441
104MAPKAPK20.49879521
105MUSK0.49100178
106CAMK2A0.49036201
107STK100.47265128
108MAPK130.46145921
109HIPK20.46061507
110STK30.45277214
111NTRK30.45011809
112KIT0.44323038
113CAMK10.43812788
114MKNK10.43571100
115VRK10.43110206
116TIE10.42660190
117RIPK40.42186004
118NLK0.41585686
119MAP2K20.41401693
120ADRBK10.39516022
121CDK80.39495837
122CSNK1A10.39022440
123PRKAA20.38657970
124ITK0.38560592
125BRSK20.38189006
126CLK10.38050433
127PBK0.35802915
128PRKCQ0.34445817
129EPHA30.34333148
130TAF10.33996444
131CSNK1D0.33804117
132RPS6KA50.33804112
133NME10.33395942
134TLK10.32692431
135SGK20.32196822
136IRAK20.31511058
137MINK10.30802597
138ATM0.30485712
139TESK10.29749612
140AKT30.29662522
141NEK60.29538279
142PRKG10.29521201
143MKNK20.29460229
144IRAK10.29288830
145ABL10.28978211
146PLK40.28928860
147PRKCA0.28109694
148PRKCI0.26991645
149PRKACA0.26710956
150DYRK1B0.26504935
151MAP3K10.26139095
152MAPK70.26015661
153CHEK20.25105377
154MAP3K110.24555661

Predicted pathways (KEGG)

RankGene SetZ-score
1* Sphingolipid metabolism_Homo sapiens_hsa006003.56650842
2Fatty acid elongation_Homo sapiens_hsa000623.23598023
3Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.21307680
4Ribosome_Homo sapiens_hsa030103.19127252
5Arachidonic acid metabolism_Homo sapiens_hsa005903.04737219
6Linoleic acid metabolism_Homo sapiens_hsa005912.79917903
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.78906806
8Cyanoamino acid metabolism_Homo sapiens_hsa004602.70702741
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.47560051
10Protein export_Homo sapiens_hsa030602.44948666
11Butanoate metabolism_Homo sapiens_hsa006502.29299876
12Retinol metabolism_Homo sapiens_hsa008302.28219560
13Oxidative phosphorylation_Homo sapiens_hsa001902.04417775
14Ether lipid metabolism_Homo sapiens_hsa005651.98464943
15Nitrogen metabolism_Homo sapiens_hsa009101.92344025
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.89867668
17Histidine metabolism_Homo sapiens_hsa003401.87385687
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.84792176
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.80079238
20Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.75578491
21Propanoate metabolism_Homo sapiens_hsa006401.75235933
22Tryptophan metabolism_Homo sapiens_hsa003801.75073353
23Mineral absorption_Homo sapiens_hsa049781.72320963
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.65727552
25Phenylalanine metabolism_Homo sapiens_hsa003601.62586823
26Steroid biosynthesis_Homo sapiens_hsa001001.56829933
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.56094772
28Phototransduction_Homo sapiens_hsa047441.56019139
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.49931572
30Olfactory transduction_Homo sapiens_hsa047401.48438012
31Selenocompound metabolism_Homo sapiens_hsa004501.46521373
32Serotonergic synapse_Homo sapiens_hsa047261.46177947
33Peroxisome_Homo sapiens_hsa041461.43885855
34RNA degradation_Homo sapiens_hsa030181.43296917
35Parkinsons disease_Homo sapiens_hsa050121.42662598
36Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.41236002
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35998041
38Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.33441186
39Proteasome_Homo sapiens_hsa030501.33310845
40Axon guidance_Homo sapiens_hsa043601.29973784
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.27343452
42p53 signaling pathway_Homo sapiens_hsa041151.27231313
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.26472097
44Morphine addiction_Homo sapiens_hsa050321.23760430
45Basal cell carcinoma_Homo sapiens_hsa052171.22723186
46Chemical carcinogenesis_Homo sapiens_hsa052041.22187164
47Steroid hormone biosynthesis_Homo sapiens_hsa001401.21121931
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.18999250
49Vitamin digestion and absorption_Homo sapiens_hsa049771.18215811
50Circadian entrainment_Homo sapiens_hsa047131.15926998
51beta-Alanine metabolism_Homo sapiens_hsa004101.15026039
52Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.14543184
53Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13112330
54GABAergic synapse_Homo sapiens_hsa047271.12222721
55Ovarian steroidogenesis_Homo sapiens_hsa049131.10903886
56Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.10095883
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.03871009
58Autoimmune thyroid disease_Homo sapiens_hsa053201.03849340
59Sulfur metabolism_Homo sapiens_hsa009201.02995853
60Fanconi anemia pathway_Homo sapiens_hsa034601.02679853
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.98368967
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.98147227
63Staphylococcus aureus infection_Homo sapiens_hsa051500.97521303
64Taste transduction_Homo sapiens_hsa047420.96531233
65Insulin secretion_Homo sapiens_hsa049110.95861122
66Non-homologous end-joining_Homo sapiens_hsa034500.94731755
67Nicotine addiction_Homo sapiens_hsa050330.94637348
68Fat digestion and absorption_Homo sapiens_hsa049750.92848384
69Regulation of autophagy_Homo sapiens_hsa041400.92500728
70Alzheimers disease_Homo sapiens_hsa050100.87296518
71Glycerolipid metabolism_Homo sapiens_hsa005610.87175408
72Calcium signaling pathway_Homo sapiens_hsa040200.86929516
73Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.86883437
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86862363
75Huntingtons disease_Homo sapiens_hsa050160.85832168
76Hematopoietic cell lineage_Homo sapiens_hsa046400.84540751
77Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.82677591
78Pancreatic secretion_Homo sapiens_hsa049720.82544627
79Graft-versus-host disease_Homo sapiens_hsa053320.76985824
80Tyrosine metabolism_Homo sapiens_hsa003500.76051880
81ABC transporters_Homo sapiens_hsa020100.75458350
82Fatty acid degradation_Homo sapiens_hsa000710.73409413
83NF-kappa B signaling pathway_Homo sapiens_hsa040640.72410877
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72249922
85Primary immunodeficiency_Homo sapiens_hsa053400.72086360
86Other glycan degradation_Homo sapiens_hsa005110.71298211
87Pentose and glucuronate interconversions_Homo sapiens_hsa000400.70736786
88* Metabolic pathways_Homo sapiens_hsa011000.70421455
89Circadian rhythm_Homo sapiens_hsa047100.68459093
90Jak-STAT signaling pathway_Homo sapiens_hsa046300.67078401
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.66984940
92Purine metabolism_Homo sapiens_hsa002300.66284056
93NOD-like receptor signaling pathway_Homo sapiens_hsa046210.66134988
94Intestinal immune network for IgA production_Homo sapiens_hsa046720.65603799
95Adherens junction_Homo sapiens_hsa045200.64618220
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.63319759
97Long-term depression_Homo sapiens_hsa047300.62769349
98Pyrimidine metabolism_Homo sapiens_hsa002400.62594392
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.62428734
100Tight junction_Homo sapiens_hsa045300.62218101
101* Sphingolipid signaling pathway_Homo sapiens_hsa040710.62030596
102Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60927617
103Hedgehog signaling pathway_Homo sapiens_hsa043400.59455312
104Cardiac muscle contraction_Homo sapiens_hsa042600.58370058
105Hippo signaling pathway_Homo sapiens_hsa043900.57691290
106Ras signaling pathway_Homo sapiens_hsa040140.57586010
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57355248
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56835682
109Homologous recombination_Homo sapiens_hsa034400.56458918
110Wnt signaling pathway_Homo sapiens_hsa043100.55396905
111Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.55072620
112Fatty acid metabolism_Homo sapiens_hsa012120.54843284
113Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.54117453
114Caffeine metabolism_Homo sapiens_hsa002320.53965742
115Dopaminergic synapse_Homo sapiens_hsa047280.52074771
116Basal transcription factors_Homo sapiens_hsa030220.51943049
117Renin secretion_Homo sapiens_hsa049240.51594683
118Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51301743
119Fatty acid biosynthesis_Homo sapiens_hsa000610.49737018
120Glycerophospholipid metabolism_Homo sapiens_hsa005640.48442910
121Type I diabetes mellitus_Homo sapiens_hsa049400.46703598
122MicroRNAs in cancer_Homo sapiens_hsa052060.45901152
123Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45575281
124One carbon pool by folate_Homo sapiens_hsa006700.45225080
125Allograft rejection_Homo sapiens_hsa053300.45138162
126Melanoma_Homo sapiens_hsa052180.44940464
127Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44571975
128RNA polymerase_Homo sapiens_hsa030200.43739304
129Rheumatoid arthritis_Homo sapiens_hsa053230.43502588
130Vascular smooth muscle contraction_Homo sapiens_hsa042700.43329908
131Hepatitis C_Homo sapiens_hsa051600.43327400
132Cysteine and methionine metabolism_Homo sapiens_hsa002700.42995580
133Glutamatergic synapse_Homo sapiens_hsa047240.42046719
134Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41707187
135Synaptic vesicle cycle_Homo sapiens_hsa047210.40113265
136Salivary secretion_Homo sapiens_hsa049700.39821444
137Asthma_Homo sapiens_hsa053100.39809412
138ErbB signaling pathway_Homo sapiens_hsa040120.39176642
139ECM-receptor interaction_Homo sapiens_hsa045120.38031319
140Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.37821314
141Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37610371
142Notch signaling pathway_Homo sapiens_hsa043300.36982198
143Vitamin B6 metabolism_Homo sapiens_hsa007500.36767299
144Melanogenesis_Homo sapiens_hsa049160.34969294
145Drug metabolism - other enzymes_Homo sapiens_hsa009830.34492710
146Influenza A_Homo sapiens_hsa051640.33339696
147Pertussis_Homo sapiens_hsa051330.32695199
148Collecting duct acid secretion_Homo sapiens_hsa049660.30883739
149Inositol phosphate metabolism_Homo sapiens_hsa005620.28631207
150Glutathione metabolism_Homo sapiens_hsa004800.27919186

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