SPHK1

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





Description: The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1heme biosynthetic process (GO:0006783)6.72972727
2protoporphyrinogen IX metabolic process (GO:0046501)5.93737223
3DNA deamination (GO:0045006)5.93326892
4protoporphyrinogen IX biosynthetic process (GO:0006782)5.83771403
5regulation of vitamin D biosynthetic process (GO:0060556)5.79977798
6heme metabolic process (GO:0042168)5.60366079
7ribosomal small subunit assembly (GO:0000028)5.57442021
8porphyrin-containing compound biosynthetic process (GO:0006779)5.43298871
9erythrocyte maturation (GO:0043249)5.07895850
10deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.94273465
11tetrapyrrole biosynthetic process (GO:0033014)4.89699284
12proteasome assembly (GO:0043248)4.79478971
13telomere maintenance via semi-conservative replication (GO:0032201)4.70534009
14negative regulation of interleukin-12 production (GO:0032695)4.67522162
15regulation of vitamin metabolic process (GO:0030656)4.55594636
16one-carbon compound transport (GO:0019755)4.48863794
17porphyrin-containing compound metabolic process (GO:0006778)4.48854443
18DNA replication initiation (GO:0006270)4.45300805
19regulation of cytokine secretion involved in immune response (GO:0002739)4.44438922
20positive regulation of chemokine biosynthetic process (GO:0045080)4.44386082
21response to peptidoglycan (GO:0032494)4.42584573
22regulation of mononuclear cell migration (GO:0071675)4.39778256
23protein autoprocessing (GO:0016540)4.35490025
24lipopolysaccharide-mediated signaling pathway (GO:0031663)4.33367717
25positive regulation of membrane protein ectodomain proteolysis (GO:0051044)4.29799647
26viral transcription (GO:0019083)4.26220726
27DNA replication checkpoint (GO:0000076)4.25839790
28DNA strand elongation involved in DNA replication (GO:0006271)4.17123122
29translational termination (GO:0006415)4.16194892
30positive regulation of insulin receptor signaling pathway (GO:0046628)4.12466975
31negative regulation of gluconeogenesis (GO:0045721)4.10910173
32regulation of membrane protein ectodomain proteolysis (GO:0051043)4.09733588
33deoxyribose phosphate biosynthetic process (GO:0046385)4.07987802
342-deoxyribonucleotide biosynthetic process (GO:0009265)4.07987802
35deoxyribonucleotide biosynthetic process (GO:0009263)4.07945146
36CENP-A containing nucleosome assembly (GO:0034080)4.07557819
37regulation of podosome assembly (GO:0071801)4.04269887
38DNA strand elongation (GO:0022616)4.02214098
39regulation of T-helper 1 cell differentiation (GO:0045625)3.97310910
40negative regulation of nitric oxide biosynthetic process (GO:0045019)3.96762122
41regulation of chemokine biosynthetic process (GO:0045073)3.93156428
42telomere maintenance via recombination (GO:0000722)3.92774868
43glycosphingolipid catabolic process (GO:0046479)3.92581681
44chromatin remodeling at centromere (GO:0031055)3.89306132
45positive regulation of heat generation (GO:0031652)3.86268688
46adhesion of symbiont to host cell (GO:0044650)3.84903923
47virion attachment to host cell (GO:0019062)3.84903923
48NIK/NF-kappaB signaling (GO:0038061)3.84660769
49maturation of SSU-rRNA (GO:0030490)3.80933563
50oligosaccharide catabolic process (GO:0009313)3.78782113
51SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.76984644
52regulation of chronic inflammatory response (GO:0002676)3.69563786
53pseudouridine synthesis (GO:0001522)3.69478435
54regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.68784107
55myeloid dendritic cell differentiation (GO:0043011)3.68291759
56translational elongation (GO:0006414)3.68241203
57protein targeting to ER (GO:0045047)3.64857002
58cotranslational protein targeting to membrane (GO:0006613)3.64682600
59regulation of fever generation (GO:0031620)3.57893730
60erythrocyte development (GO:0048821)3.57236543
61metallo-sulfur cluster assembly (GO:0031163)3.56799338
62iron-sulfur cluster assembly (GO:0016226)3.56799338
63pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.54559105
64glycolipid catabolic process (GO:0019377)3.49474019
65adhesion of symbiont to host (GO:0044406)3.49256230
66negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.49105822
67folic acid-containing compound biosynthetic process (GO:0009396)3.48537679
68negative regulation of cytokine production involved in immune response (GO:0002719)3.47971598
69protein localization to endoplasmic reticulum (GO:0070972)3.47950027
70ribosomal small subunit biogenesis (GO:0042274)3.46632423
71low-density lipoprotein particle clearance (GO:0034383)3.45421987
72establishment of protein localization to endoplasmic reticulum (GO:0072599)3.44838193
73mitotic recombination (GO:0006312)3.43859430
74ribosomal large subunit biogenesis (GO:0042273)3.43776257
75folic acid metabolic process (GO:0046655)3.42668782
76DNA replication-independent nucleosome organization (GO:0034724)3.42253876
77DNA replication-independent nucleosome assembly (GO:0006336)3.42253876
78protein localization to endosome (GO:0036010)3.41049461
79regulation of mitochondrial translation (GO:0070129)3.40035415
80telomere maintenance via telomere lengthening (GO:0010833)3.39646977
81gas transport (GO:0015669)3.38571636
82regulation of protein heterodimerization activity (GO:0043497)3.36643090
83monocyte chemotaxis (GO:0002548)3.35650085
84macrophage activation involved in immune response (GO:0002281)3.35022733
85pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.33344787
86translational initiation (GO:0006413)3.32616402
87embryonic hemopoiesis (GO:0035162)3.31044518
88T-helper 1 type immune response (GO:0042088)3.29276406
89activation of MAPKKK activity (GO:0000185)3.28740281
90transcription elongation from RNA polymerase III promoter (GO:0006385)3.27439110
91termination of RNA polymerase III transcription (GO:0006386)3.27439110
92viral life cycle (GO:0019058)3.27387677
93pigment biosynthetic process (GO:0046148)3.26551296
94positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.23567421
95branching involved in labyrinthine layer morphogenesis (GO:0060670)3.20783749
96cellular protein complex disassembly (GO:0043624)3.20325802
97ribonucleoprotein complex biogenesis (GO:0022613)3.19388631
98translation (GO:0006412)3.16261787
99regulation of nitric oxide biosynthetic process (GO:0045428)3.14503635
100nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.14067095
101formation of translation preinitiation complex (GO:0001731)3.12769692
102decidualization (GO:0046697)3.11877228
103negative regulation of myeloid cell apoptotic process (GO:0033033)3.10909456
104deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.10409471
105kinetochore assembly (GO:0051382)3.08051647
106cellular response to lipopolysaccharide (GO:0071222)3.07997006
107tetrapyrrole metabolic process (GO:0033013)3.07923080
108regulation of interferon-alpha production (GO:0032647)3.07748343
109ribosome biogenesis (GO:0042254)3.07273945
110ceramide catabolic process (GO:0046514)3.07122221
111rRNA modification (GO:0000154)3.05963245
112regulation of cholesterol storage (GO:0010885)3.04717013
113kinetochore organization (GO:0051383)3.04396987
114pyrimidine nucleotide catabolic process (GO:0006244)3.01140839
115tRNA methylation (GO:0030488)3.00493488
116cell adhesion mediated by integrin (GO:0033627)3.00463285
117type I interferon signaling pathway (GO:0060337)3.00343197
118cellular response to type I interferon (GO:0071357)3.00343197
119myeloid dendritic cell activation (GO:0001773)2.98768047
120response to protozoan (GO:0001562)2.98588709
121neutrophil activation involved in immune response (GO:0002283)2.98301388
122positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.98279920
123germinal center formation (GO:0002467)2.97074858
124response to type I interferon (GO:0034340)2.96862427
125regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.94918606
126negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.94245132
127regulation of immunoglobulin secretion (GO:0051023)2.93524424
128cellular response to molecule of bacterial origin (GO:0071219)2.93406512
129regulation of T-helper 2 cell differentiation (GO:0045628)2.93281384
130pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.92328320
131rRNA processing (GO:0006364)2.91950241
132pinocytosis (GO:0006907)2.90662698
133negative regulation of lipid storage (GO:0010888)2.90018364
134response to thyroid hormone (GO:0097066)2.88996340
135cellular response to arsenic-containing substance (GO:0071243)2.87547176
136spliceosomal snRNP assembly (GO:0000387)2.87209785
137dendritic cell differentiation (GO:0097028)2.86704036
138positive regulation of nitric oxide biosynthetic process (GO:0045429)2.84903623
139amino sugar catabolic process (GO:0046348)2.84854984
140nucleotide-excision repair, DNA gap filling (GO:0006297)2.81354901
141rRNA metabolic process (GO:0016072)2.80517806
142positive regulation of interleukin-6 production (GO:0032755)2.79061048
143pigment metabolic process (GO:0042440)2.78634325
144histone exchange (GO:0043486)2.78336450
145regulation of macrophage chemotaxis (GO:0010758)2.77453153
146defense response to protozoan (GO:0042832)2.76624931
147transcription-coupled nucleotide-excision repair (GO:0006283)2.75568188
148immunoglobulin mediated immune response (GO:0016064)2.74685229
149regulation of heat generation (GO:0031650)2.73959540
150erythrocyte differentiation (GO:0030218)2.72317879
151exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.72017752
152G1/S transition of mitotic cell cycle (GO:0000082)2.71776494
153cell cycle G1/S phase transition (GO:0044843)2.71776494
154negative regulation of production of molecular mediator of immune response (GO:0002701)2.71674060
155DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.71336783
156histone mRNA metabolic process (GO:0008334)2.70859311
157response to muramyl dipeptide (GO:0032495)2.69914639
158glial cell migration (GO:0008347)2.69897847
159negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.69823530
160cellular response to thyroid hormone stimulus (GO:0097067)2.69208144
161positive regulation of monocyte chemotaxis (GO:0090026)2.67954940
162protein targeting to mitochondrion (GO:0006626)2.67643179
163protein complex disassembly (GO:0043241)2.66853882
164pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.66820818
165signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.66712288
166intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.66712288
167mature B cell differentiation involved in immune response (GO:0002313)2.66654706
168barbed-end actin filament capping (GO:0051016)2.65951774
169activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.65727443
170regulation of cellular amino acid metabolic process (GO:0006521)2.65712554
171signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.65595179
172signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.65595179
173signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.65595179
174modulation by symbiont of host cellular process (GO:0044068)2.65201462
175regulation of type I interferon-mediated signaling pathway (GO:0060338)2.64045028
176regulation of early endosome to late endosome transport (GO:2000641)2.62633146
177regulation of monocyte chemotaxis (GO:0090025)2.61815715
178positive regulation of lymphocyte apoptotic process (GO:0070230)2.60628481
179regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.60466554
180regulation of heterotypic cell-cell adhesion (GO:0034114)2.57925899
181eosinophil chemotaxis (GO:0048245)2.57300848
182interferon-gamma-mediated signaling pathway (GO:0060333)2.56092614
183positive regulation of type 2 immune response (GO:0002830)2.55052731
184detection of molecule of bacterial origin (GO:0032490)2.54292459
185regulation of dendritic cell antigen processing and presentation (GO:0002604)2.51879550
186cellular response to biotic stimulus (GO:0071216)2.51214134
187positive regulation by symbiont of host defense response (GO:0052509)2.49897744
188modulation by symbiont of host defense response (GO:0052031)2.49897744
189modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.49897744
190modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.49897744
191positive regulation by organism of defense response of other organism involved in symbiotic interact2.49897744
192modulation by symbiont of host immune response (GO:0052553)2.49897744
193regulation of interleukin-6 production (GO:0032675)2.47693561
194negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.46864068
195hyaluronan catabolic process (GO:0030214)2.46486863
196positive regulation of acute inflammatory response (GO:0002675)2.46065450
197positive regulation of p38MAPK cascade (GO:1900745)2.45580244
198regulation of interleukin-12 production (GO:0032655)2.45405059
199granulocyte activation (GO:0036230)2.45001724

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.13758421
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse5.04890488
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.19406206
4NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.67302144
5RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.48793569
6IRF8_21731497_ChIP-ChIP_J774_Mouse3.41658235
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.41598012
8GABP_17652178_ChIP-ChIP_JURKAT_Human3.24487331
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.19430943
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.05848932
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.04525116
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.93671796
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.84766125
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.81178747
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.80448566
16SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.66182057
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.63704184
18IRF8_27001747_Chip-Seq_BMDM_Mouse2.60627793
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.56855245
20ELF1_17652178_ChIP-ChIP_JURKAT_Human2.56267585
21GATA1_22025678_ChIP-Seq_K562_Human2.55180043
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.51681574
23CREB1_15753290_ChIP-ChIP_HEK293T_Human2.44957507
24MYC_19079543_ChIP-ChIP_MESCs_Mouse2.43315291
25SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.41222265
26EGR1_19374776_ChIP-ChIP_THP-1_Human2.39807361
27* ELK3_25401928_ChIP-Seq_HUVEC_Human2.39345970
28* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.38589150
29MYC_19030024_ChIP-ChIP_MESCs_Mouse2.37443474
30DCP1A_22483619_ChIP-Seq_HELA_Human2.29335783
31VDR_23849224_ChIP-Seq_CD4+_Human2.27875113
32* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.26867787
33LXR_22292898_ChIP-Seq_THP-1_Human2.18080453
34Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.17224638
35SRF_21415370_ChIP-Seq_HL-1_Mouse2.15067393
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.13090548
37TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.11536196
38HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.11122977
39NELFA_20434984_ChIP-Seq_ESCs_Mouse2.09810598
40NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.08028170
41AR_21909140_ChIP-Seq_LNCAP_Human1.99268975
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.98997734
43XRN2_22483619_ChIP-Seq_HELA_Human1.98177809
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.96232845
45E2F1_18555785_ChIP-Seq_MESCs_Mouse1.93957976
46NOTCH1_21737748_ChIP-Seq_TLL_Human1.92367883
47IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.91711465
48ESR2_21235772_ChIP-Seq_MCF-7_Human1.88775164
49FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.87983128
50BRD4_27068464_Chip-Seq_AML-cells_Mouse1.85134131
51KDM2B_26808549_Chip-Seq_SUP-B15_Human1.84765950
52VDR_24763502_ChIP-Seq_THP-1_Human1.81960841
53* GABP_19822575_ChIP-Seq_HepG2_Human1.80658591
54RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.79919134
55* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.79743655
56GATA1_22383799_ChIP-Seq_G1ME_Mouse1.77368518
57* E2F1_21310950_ChIP-Seq_MCF-7_Human1.77334729
58STAT6_21828071_ChIP-Seq_BEAS2B_Human1.75084463
59FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.73989923
60ELK1_19687146_ChIP-ChIP_HELA_Human1.72940112
61TTF2_22483619_ChIP-Seq_HELA_Human1.72884391
62FOXP3_21729870_ChIP-Seq_TREG_Human1.70609978
63HOXB4_20404135_ChIP-ChIP_EML_Mouse1.69416861
64PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.67194284
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.65611855
66CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.63108931
67CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.62899653
68FOXM1_23109430_ChIP-Seq_U2OS_Human1.61124667
69RBPJ_22232070_ChIP-Seq_NCS_Mouse1.58177134
70ERG_20887958_ChIP-Seq_HPC-7_Mouse1.55774644
71THAP11_20581084_ChIP-Seq_MESCs_Mouse1.53353114
72* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.52661345
73SCL_19346495_ChIP-Seq_HPC-7_Human1.51078007
74SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.51015227
75GATA1_19941827_ChIP-Seq_MEL_Mouse1.50282753
76* RACK7_27058665_Chip-Seq_MCF-7_Human1.48120033
77ZNF263_19887448_ChIP-Seq_K562_Human1.46553356
78HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.46321238
79SPI1_23127762_ChIP-Seq_K562_Human1.46294904
80* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.46126283
81STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.43884917
82VDR_24787735_ChIP-Seq_THP-1_Human1.43004934
83MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.42977780
84MYCN_18555785_ChIP-Seq_MESCs_Mouse1.40986662
85CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.40948400
86STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.39927345
87TP63_17297297_ChIP-ChIP_HaCaT_Human1.39661798
88ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38798491
89CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.38341490
90GATA2_21666600_ChIP-Seq_HMVEC_Human1.37867231
91ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.36389356
92YY1_21170310_ChIP-Seq_MESCs_Mouse1.35594030
93CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.33733754
94STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.33675736
95PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.32830162
96TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.32076405
97CLOCK_20551151_ChIP-Seq_293T_Human1.32039059
98PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31842310
99* KDM2B_26808549_Chip-Seq_DND41_Human1.31807078
100MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.31026374
101TCF7_22412390_ChIP-Seq_EML_Mouse1.30154614
102UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.30035024
103* RUNX1_22412390_ChIP-Seq_EML_Mouse1.27042659
104E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.25122972
105* UBF1/2_26484160_Chip-Seq_HMECs_Human1.24033138
106TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23886520
107PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.23070837
108MAF_26560356_Chip-Seq_TH1_Human1.23049396
109* KDM2B_26808549_Chip-Seq_K562_Human1.21402046
110E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.21360137
111KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.20046077
112MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.19005963
113* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18589509
114KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.18491794
115CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.17808211
116ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.17062886
117MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.16728151
118ELK1_22589737_ChIP-Seq_MCF10A_Human1.15761829
119NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.15672113
120SMAD_19615063_ChIP-ChIP_OVARY_Human1.15547779
121ESR1_21235772_ChIP-Seq_MCF-7_Human1.15037156
122RXR_22158963_ChIP-Seq_LIVER_Mouse1.14826751
123* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14518287
124SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13096434
125* ATF3_27146783_Chip-Seq_COLON_Human1.12147561
126FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.11984716
127KDM5A_27292631_Chip-Seq_BREAST_Human1.11840862
128SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.11727744
129SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.11727744
130GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.11640580
131SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.10876550
132SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.10383857
133MYB_21317192_ChIP-Seq_ERMYB_Mouse1.09598528
134TP53_22127205_ChIP-Seq_IMR90_Human1.09568116
135P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07518633
136PU_27001747_Chip-Seq_BMDM_Mouse1.07366975
137TFEB_21752829_ChIP-Seq_HELA_Human1.07246679
138P63_26484246_Chip-Seq_KERATINOCYTES_Human1.06899365
139KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05782979
140VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.05112740
141LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.04905532
142PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.04329465
143CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03939333
144PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01789662
145ELF1_20517297_ChIP-Seq_JURKAT_Human1.01487932
146CTCF_27219007_Chip-Seq_ERYTHROID_Human1.01454817
147YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.00832693
148SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00602285
149PPARA_22158963_ChIP-Seq_LIVER_Mouse1.00519924
150BCOR_27268052_Chip-Seq_Bcells_Human0.99902783
151IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.99298744
152NANOG_18555785_ChIP-Seq_MESCs_Mouse0.95720374
153CIITA_25753668_ChIP-Seq_RAJI_Human0.95196220
154GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.94197068
155STAT3_1855785_ChIP-Seq_MESCs_Mouse0.93485414
156CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.92525400
157VDR_21846776_ChIP-Seq_THP-1_Human0.92068204
158SPI1_23547873_ChIP-Seq_NB4_Human0.91879183
159MYC_18940864_ChIP-ChIP_HL60_Human0.90982663
160ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.89224044
161* STAT4_19710469_ChIP-ChIP_TH1__Mouse0.87987048
162IRF8_22096565_ChIP-ChIP_GC-B_Human0.87377384
163CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.87322477
164GATA2_22383799_ChIP-Seq_G1ME_Mouse0.87144404
165MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.86751460
166SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.86539717
167GATA1_19941826_ChIP-Seq_K562_Human0.86464820
168MYC_22102868_ChIP-Seq_BL_Human0.85223839
169TBX5_21415370_ChIP-Seq_HL-1_Mouse0.85063570
170* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.84772749
171PADI4_21655091_ChIP-ChIP_MCF-7_Human0.84584862
172NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.83762968
173DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.82261324
174LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81904785
175FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80275165
176EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.77740877
177BP1_19119308_ChIP-ChIP_Hs578T_Human0.76862209
178CTCF_18555785_ChIP-Seq_MESCs_Mouse0.76556193

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level6.49675782
2MP0003656_abnormal_erythrocyte_physiolo6.46981520
3MP0003303_peritoneal_inflammation4.78701428
4MP0005058_abnormal_lysosome_morphology4.32188292
5MP0004510_myositis3.52654346
6MP0009840_abnormal_foam_cell3.52360146
7MP0003693_abnormal_embryo_hatching3.36891732
8MP0005397_hematopoietic_system_phenotyp3.29959119
9MP0001545_abnormal_hematopoietic_system3.29959119
10MP0006082_CNS_inflammation3.24815451
11MP0002396_abnormal_hematopoietic_system2.95112274
12MP0003111_abnormal_nucleus_morphology2.76838479
13MP0005275_abnormal_skin_tensile2.76695626
14MP0004957_abnormal_blastocyst_morpholog2.71606637
15MP0010094_abnormal_chromosome_stability2.70463336
16MP0008057_abnormal_DNA_replication2.68202743
17MP0000490_abnormal_crypts_of2.63635536
18MP0002132_abnormal_respiratory_system2.58575157
19MP0003300_gastrointestinal_ulcer2.54052481
20MP0008058_abnormal_DNA_repair2.51336095
21MP0002139_abnormal_hepatobiliary_system2.45396945
22MP0008438_abnormal_cutaneous_collagen2.38657875
23MP0003172_abnormal_lysosome_physiology2.37044916
24MP0005451_abnormal_body_composition2.30548184
25MP0003075_altered_response_to2.29649117
26MP0003453_abnormal_keratinocyte_physiol2.27971110
27MP0003077_abnormal_cell_cycle2.09296026
28MP0008007_abnormal_cellular_replicative1.99631544
29MP0003705_abnormal_hypodermis_morpholog1.96333564
30MP0001790_abnormal_immune_system1.96270045
31MP0005387_immune_system_phenotype1.96270045
32MP0009333_abnormal_splenocyte_physiolog1.94642747
33MP0003186_abnormal_redox_activity1.91967225
34MP0000604_amyloidosis1.89016948
35MP0003191_abnormal_cellular_cholesterol1.88488464
36MP0009278_abnormal_bone_marrow1.84747226
37MP0005167_abnormal_blood-brain_barrier1.82754937
38* MP0009764_decreased_sensitivity_to1.82200211
39MP0001542_abnormal_bone_strength1.78128653
40MP0002998_abnormal_bone_remodeling1.73968451
41MP0003448_altered_tumor_morphology1.73884373
42MP0005501_abnormal_skin_physiology1.73571723
43MP0005503_abnormal_tendon_morphology1.65626995
44MP0003724_increased_susceptibility_to1.64946353
45MP0005257_abnormal_intraocular_pressure1.63843079
46MP0000685_abnormal_immune_system1.55721353
47MP0003806_abnormal_nucleotide_metabolis1.54004950
48MP0008775_abnormal_heart_ventricle1.53626902
49MP0009379_abnormal_foot_pigmentation1.53218217
50MP0008004_abnormal_stomach_pH1.50177727
51MP0003091_abnormal_cell_migration1.48658345
52* MP0002723_abnormal_immune_serum1.48421432
53MP0003786_premature_aging1.45576148
54MP0002060_abnormal_skin_morphology1.45310734
55MP0010352_gastrointestinal_tract_polyps1.44966293
56MP0001853_heart_inflammation1.39920835
57MP0002877_abnormal_melanocyte_morpholog1.39669145
58* MP0001845_abnormal_inflammatory_respons1.37684274
59* MP0008469_abnormal_protein_level1.37650824
60MP0001243_abnormal_dermal_layer1.36899700
61MP0002102_abnormal_ear_morphology1.35345107
62MP0005636_abnormal_mineral_homeostasis1.35136302
63MP0002332_abnormal_exercise_endurance1.34978563
64MP0008932_abnormal_embryonic_tissue1.34678030
65MP0002138_abnormal_hepatobiliary_system1.31227310
66MP0005166_decreased_susceptibility_to1.28246461
67MP0002796_impaired_skin_barrier1.28085011
68MP0003950_abnormal_plasma_membrane1.27526281
69MP0001849_ear_inflammation1.27279134
70MP0001800_abnormal_humoral_immune1.24114552
71* MP0006054_spinal_hemorrhage1.21842748
72MP0008260_abnormal_autophagy1.18772986
73MP0006036_abnormal_mitochondrial_physio1.16595567
74MP0003941_abnormal_skin_development1.15175371
75MP0009931_abnormal_skin_appearance1.14307700
76MP0005165_increased_susceptibility_to1.13882684
77MP0005310_abnormal_salivary_gland1.13211256
78MP0005174_abnormal_tail_pigmentation1.12578118
79* MP0002398_abnormal_bone_marrow1.12332115
80MP0000858_altered_metastatic_potential1.10941053
81MP0004947_skin_inflammation1.09805026
82MP0000313_abnormal_cell_death1.06653125
83MP0004808_abnormal_hematopoietic_stem1.06272342
84MP0000350_abnormal_cell_proliferation1.04711520
85MP0003690_abnormal_glial_cell1.04610998
86MP0005595_abnormal_vascular_smooth1.02163252
87MP0002019_abnormal_tumor_incidence1.01850454
88MP0001958_emphysema0.99765963
89MP0003329_amyloid_beta_deposits0.98788012
90* MP0002722_abnormal_immune_system0.98001336
91MP0000689_abnormal_spleen_morphology0.97306345
92MP0003195_calcinosis0.95874137
93MP0010771_integument_phenotype0.94995393
94* MP0002429_abnormal_blood_cell0.94918523
95MP0001216_abnormal_epidermal_layer0.94225888
96MP0009785_altered_susceptibility_to0.93424800
97MP0003566_abnormal_cell_adhesion0.92494043
98MP0005076_abnormal_cell_differentiation0.92009761
99MP0002933_joint_inflammation0.91662635
100MP0002095_abnormal_skin_pigmentation0.91584830
101MP0008789_abnormal_olfactory_epithelium0.91434279
102MP0001835_abnormal_antigen_presentation0.90771587
103MP0003279_aneurysm0.90557537
104MP0004858_abnormal_nervous_system0.89670932
105MP0000566_synostosis0.89564294
106MP0003763_abnormal_thymus_physiology0.89469120
107MP0000343_altered_response_to0.89440385
108MP0010307_abnormal_tumor_latency0.88881263
109MP0002148_abnormal_hypersensitivity_rea0.88711939
110MP0003795_abnormal_bone_structure0.85556387
111MP0005075_abnormal_melanosome_morpholog0.84880687
112MP0002405_respiratory_system_inflammati0.82379276
113MP0000920_abnormal_myelination0.82323048
114MP0009763_increased_sensitivity_to0.81899307
115MP0005671_abnormal_response_to0.81541693
116MP0002098_abnormal_vibrissa_morphology0.75420367
117MP0002896_abnormal_bone_mineralization0.74576668
118MP0001533_abnormal_skeleton_physiology0.74184793
119MP0005025_abnormal_response_to0.73943882
120MP0000249_abnormal_blood_vessel0.73910019
121MP0004272_abnormal_basement_membrane0.73276824
122MP0003718_maternal_effect0.72958310
123MP0003828_pulmonary_edema0.70797085
124MP0005164_abnormal_response_to0.70098307
125MP0001188_hyperpigmentation0.69263904
126MP0004883_abnormal_blood_vessel0.68948889
127MP0003634_abnormal_glial_cell0.67037743
128MP0001663_abnormal_digestive_system0.66987802
129MP0002254_reproductive_system_inflammat0.66727006
130MP0005390_skeleton_phenotype0.65504138
131MP0000358_abnormal_cell_content/0.64999483
132MP0000750_abnormal_muscle_regeneration0.64383078
133MP0003567_abnormal_fetal_cardiomyocyte0.64234984
134MP0010155_abnormal_intestine_physiology0.64192990
135MP0002006_tumorigenesis0.63804634
136* MP0000716_abnormal_immune_system0.63370694
137MP0006035_abnormal_mitochondrial_morpho0.63205179
138MP0001191_abnormal_skin_condition0.62301300
139MP0005464_abnormal_platelet_physiology0.62102117
140MP0002452_abnormal_antigen_presenting0.61992510
141MP0005000_abnormal_immune_tolerance0.61909570
142MP0005023_abnormal_wound_healing0.61520120
143* MP0000703_abnormal_thymus_morphology0.60973939
144MP0008874_decreased_physiological_sensi0.60764534
145* MP0000767_abnormal_smooth_muscle0.59753479
146MP0000371_diluted_coat_color0.59738298
147MP0003436_decreased_susceptibility_to0.58493233
148MP0000372_irregular_coat_pigmentation0.57837420
149MP0005508_abnormal_skeleton_morphology0.57585935
150MP0002089_abnormal_postnatal_growth/wei0.57312871
151MP0002420_abnormal_adaptive_immunity0.57177116
152MP0001819_abnormal_immune_cell0.56970421
153MP0000749_muscle_degeneration0.56284179
154MP0000465_gastrointestinal_hemorrhage0.55092384
155MP0002419_abnormal_innate_immunity0.54151383
156* MP0002080_prenatal_lethality0.53247475

Predicted human phenotypes

RankGene SetZ-score
1Abnormal number of erythroid precursors (HP:0012131)7.96790422
2Abnormality of cells of the erythroid lineage (HP:0012130)7.44018946
3Abnormality of glycolipid metabolism (HP:0010969)7.17127202
4Abnormality of liposaccharide metabolism (HP:0010968)7.17127202
5Abnormality of glycosphingolipid metabolism (HP:0004343)7.17127202
6Poikilocytosis (HP:0004447)4.86836282
7Dysostosis multiplex (HP:0000943)4.66706859
8Vacuolated lymphocytes (HP:0001922)4.63828331
9Increased cerebral lipofuscin (HP:0011813)4.58124695
10Systemic lupus erythematosus (HP:0002725)4.53059584
11Birth length less than 3rd percentile (HP:0003561)4.44320879
12Loss of speech (HP:0002371)4.34651464
13Reticulocytosis (HP:0001923)4.30699285
14Abnormality of reticulocytes (HP:0004312)4.28281995
15Pallor (HP:0000980)4.26041921
16Reticulocytopenia (HP:0001896)4.23984590
17Petechiae (HP:0000967)4.23331158
18Short middle phalanx of the 5th finger (HP:0004220)4.16982270
19Nuclear cataract (HP:0100018)4.16614978
20Disinhibition (HP:0000734)3.85826543
21Abnormality of macrophages (HP:0004311)3.79246350
22Acanthocytosis (HP:0001927)3.77328917
23Increased neuronal autofluorescent lipopigment (HP:0002074)3.74092401
24Neurofibrillary tangles (HP:0002185)3.74079585
25Abnormality of polysaccharide metabolism (HP:0011012)3.64946200
26Abnormality of glycosaminoglycan metabolism (HP:0004371)3.64946200
27Abnormality of mucopolysaccharide metabolism (HP:0011020)3.64946200
28Aplastic anemia (HP:0001915)3.64195288
29Increased serum ferritin (HP:0003281)3.62273315
30Axonal loss (HP:0003447)3.58567208
31Onycholysis (HP:0001806)3.47513756
32Urinary glycosaminoglycan excretion (HP:0003541)3.43499606
33Mucopolysacchariduria (HP:0008155)3.43499606
34Diaphragmatic weakness (HP:0009113)3.23676922
35Oral leukoplakia (HP:0002745)3.20095857
36Orchitis (HP:0100796)3.19641504
37Mutism (HP:0002300)3.18452527
38Prolonged bleeding time (HP:0003010)3.11436828
39Abnormality of iron homeostasis (HP:0011031)3.02702202
40Autoimmune thrombocytopenia (HP:0001973)2.98879302
41Myocardial infarction (HP:0001658)2.97083112
42Glomerulonephritis (HP:0000099)2.96876713
43Retrobulbar optic neuritis (HP:0100654)2.94958782
44Optic neuritis (HP:0100653)2.94958782
45Chromosomal breakage induced by crosslinking agents (HP:0003221)2.94811029
46Abnormality of transition element cation homeostasis (HP:0011030)2.89470023
47Macrocytic anemia (HP:0001972)2.84395100
48Chromsome breakage (HP:0040012)2.82970892
49Cerebral inclusion bodies (HP:0100314)2.81719308
50Myositis (HP:0100614)2.76695170
51Recurrent bacterial skin infections (HP:0005406)2.72092663
52Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.69764292
53Decreased activity of mitochondrial respiratory chain (HP:0008972)2.69764292
54Apathy (HP:0000741)2.69456646
55Purpura (HP:0000979)2.69396742
56Duplicated collecting system (HP:0000081)2.63080849
57Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.58909077
58Abnormality of the vasculature of the conjunctiva (HP:0008054)2.58387771
59Diminished motivation (HP:0000745)2.58255872
60Abnormality of the preputium (HP:0100587)2.52558174
61Prolonged neonatal jaundice (HP:0006579)2.49863263
62Complement deficiency (HP:0004431)2.49699373
63Upper motor neuron abnormality (HP:0002127)2.46388770
64Metaphyseal irregularity (HP:0003025)2.45596531
65Amyloidosis (HP:0011034)2.45568807
66Thin bony cortex (HP:0002753)2.42187241
67Breast hypoplasia (HP:0003187)2.40935655
68Recurrent abscess formation (HP:0002722)2.40546741
69Hyperbilirubinemia (HP:0002904)2.38602627
70Premature rupture of membranes (HP:0001788)2.36171787
71Stomatitis (HP:0010280)2.35454517
72Polycythemia (HP:0001901)2.35099435
73Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.34318104
74Cutaneous photosensitivity (HP:0000992)2.32334122
75Progressive neurologic deterioration (HP:0002344)2.31906385
76Mediastinal lymphadenopathy (HP:0100721)2.29309347
77Eczematoid dermatitis (HP:0000976)2.29006878
78Neuronal loss in central nervous system (HP:0002529)2.28870806
79Interstitial pulmonary disease (HP:0006530)2.28104119
80Aplasia/Hypoplasia of the sacrum (HP:0008517)2.27948405
81Abnormality of the renal collecting system (HP:0004742)2.26116250
82Selective tooth agenesis (HP:0001592)2.25802434
83Achilles tendon contracture (HP:0001771)2.25673569
84Hematochezia (HP:0002573)2.25221049
85Rough bone trabeculation (HP:0100670)2.24772606
86Fragile skin (HP:0001030)2.23602135
87Abnormality of complement system (HP:0005339)2.23481505
88Protrusio acetabuli (HP:0003179)2.23466637
89Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.23117985
90Cervical subluxation (HP:0003308)2.22362653
91Microretrognathia (HP:0000308)2.21791989
92Small intestinal stenosis (HP:0012848)2.20146050
93Duodenal stenosis (HP:0100867)2.20146050
94Sparse eyelashes (HP:0000653)2.19839417
95Type I transferrin isoform profile (HP:0003642)2.18230079
96Meckel diverticulum (HP:0002245)2.17565804
97Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.13262902
98Upper limb muscle weakness (HP:0003484)2.11975956
99Spondylolisthesis (HP:0003302)2.11846511
100Ileus (HP:0002595)2.10700129
101Increased serum lactate (HP:0002151)2.10115664
1023-Methylglutaconic aciduria (HP:0003535)2.09712812
103Vertebral compression fractures (HP:0002953)2.07935350
104Pancytopenia (HP:0001876)2.07858029
105Abnormality of the Achilles tendon (HP:0005109)2.06845539
106Malnutrition (HP:0004395)2.06660147
107Reduced antithrombin III activity (HP:0001976)2.06576455
108Abnormality of the ileum (HP:0001549)2.06483516
109Mitochondrial inheritance (HP:0001427)2.05471037
110Poor head control (HP:0002421)2.05451823
111Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.03615186
112Abnormal blistering of the skin (HP:0008066)2.03468304
113Abnormality of dental color (HP:0011073)2.02041451
114Epistaxis (HP:0000421)2.00885681
115Asymmetric septal hypertrophy (HP:0001670)2.00119877
116Joint stiffness (HP:0001387)2.00016167
117Abnormality of the heme biosynthetic pathway (HP:0010472)11.9106278
118Hepatosplenomegaly (HP:0001433)1.98998106
119Keratoconjunctivitis sicca (HP:0001097)1.98662450
120Bone pain (HP:0002653)1.97865673
121Dementia (HP:0000726)1.97631067
122Abnormality of the phalanges of the 5th finger (HP:0004213)1.97250152
123Pathologic fracture (HP:0002756)1.97186216
124Myelodysplasia (HP:0002863)1.97102195
125Mesangial abnormality (HP:0001966)1.95729202
126Increased IgE level (HP:0003212)1.94675917
127Aplasia/Hypoplasia of the uvula (HP:0010293)1.94645983
128Increased CSF lactate (HP:0002490)1.93556705
129Acute necrotizing encephalopathy (HP:0006965)1.92082291
130Hepatocellular necrosis (HP:0001404)1.91836912
131Thick nail (HP:0001805)1.91151675
132Inappropriate behavior (HP:0000719)1.90938848
133Hyperalaninemia (HP:0003348)1.90558069
134Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.90558069
135Abnormality of alanine metabolism (HP:0010916)1.90558069
136Personality changes (HP:0000751)1.89410959
137Pulmonary infiltrates (HP:0002113)1.89370087
138Trismus (HP:0000211)1.89241016
139Recurrent gram-negative bacterial infections (HP:0005420)1.88691351
140Supranuclear gaze palsy (HP:0000605)1.88444546
141Nonimmune hydrops fetalis (HP:0001790)1.87707344
142Abnormality of chromosome stability (HP:0003220)1.87226679
143Parakeratosis (HP:0001036)1.86291227
144Nausea (HP:0002018)1.86228773
145Basal ganglia calcification (HP:0002135)1.85489796
146Microvesicular hepatic steatosis (HP:0001414)1.85383534
147Slender long bone (HP:0003100)1.85041403
14811 pairs of ribs (HP:0000878)1.83575819
149Tetraparesis (HP:0002273)1.82623988
150Atrophic scars (HP:0001075)1.82573576
151Secondary amenorrhea (HP:0000869)1.82465772
152Abnormal mitochondria in muscle tissue (HP:0008316)1.81060190
153Zonular cataract (HP:0010920)1.80665892
154Redundant skin (HP:0001582)1.80415098
155Agnosia (HP:0010524)1.80291591
156Natal tooth (HP:0000695)1.80250644
157Exertional dyspnea (HP:0002875)1.78492611
158Patellar aplasia (HP:0006443)1.77569021
159Severe visual impairment (HP:0001141)1.76840392
160J-shaped sella turcica (HP:0002680)1.76828206
161Cerebral aneurysm (HP:0004944)1.76714164
162Hypoplasia of the pons (HP:0012110)1.76651231
163Hyperparathyroidism (HP:0000843)1.75724556
164Conjunctival telangiectasia (HP:0000524)1.75427005
165Abnormality of the nasal mucosa (HP:0000433)1.75349066
166Abnormality of the pons (HP:0007361)1.75159075
167Type 2 muscle fiber atrophy (HP:0003554)1.74862123
168Absent rod-and cone-mediated responses on ERG (HP:0007688)1.73979455
169Ovoid vertebral bodies (HP:0003300)1.73397896
170Keratoconjunctivitis (HP:0001096)1.73364196
171Nephritis (HP:0000123)1.71455120
172Thoracic kyphosis (HP:0002942)1.70750212
173Muscle fiber atrophy (HP:0100295)1.69302320
174Abnormality of DNA repair (HP:0003254)1.68423244
175Increased IgM level (HP:0003496)1.68287308
176Paralysis (HP:0003470)1.68197036
177Tongue fasciculations (HP:0001308)1.68030650
178Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.67733996
179Gangrene (HP:0100758)1.67093362
180Abnormal trabecular bone morphology (HP:0100671)1.66809305
181Chronic otitis media (HP:0000389)1.66787003
182Polyneuropathy (HP:0001271)1.66713833
183Short 5th finger (HP:0009237)1.66455751
184Microcytic anemia (HP:0001935)1.65414145
185Abnormal protein glycosylation (HP:0012346)1.64701444
186Abnormal glycosylation (HP:0012345)1.64701444
187Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.64701444
188Abnormal protein N-linked glycosylation (HP:0012347)1.64701444
189Peripheral demyelination (HP:0011096)1.63444032
190Chronic obstructive pulmonary disease (HP:0006510)1.61794401
191Obstructive lung disease (HP:0006536)1.61794401
192Femoral bowing (HP:0002980)1.61336470
193Flared iliac wings (HP:0002869)1.60882086

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NME24.65257269
2EIF2AK13.82770909
3PIM23.79709353
4DDR23.44804197
5STK162.80199946
6VRK12.73366992
7GRK72.73348920
8RIPK12.70772144
9WEE12.53306256
10CDC72.38088360
11DYRK32.28134541
12BUB12.16011241
13ERN12.14331478
14MATK2.14026514
15RPS6KA42.13876832
16SCYL22.04763453
17MOS2.04229040
18ACVR1B1.83683432
19BRSK21.76914938
20IRAK31.76144401
21ZAK1.71687110
22PDGFRA1.70439741
23FGR1.63134843
24CDC42BPA1.61278199
25NEK21.60763922
26SRPK11.60348329
27PRPF4B1.59979496
28LATS21.55534944
29FLT31.54863642
30NME11.51406549
31TNIK1.49694446
32IRAK41.47658394
33EIF2AK31.42878694
34MAP3K111.41832752
35TESK11.41520994
36TGFBR21.40911539
37CDK191.39023335
38MST41.35824506
39CSK1.33553008
40PBK1.31459294
41KDR1.28509758
42TLK11.28129681
43ABL21.27941265
44EIF2AK21.27870952
45MKNK11.26734059
46MAPKAPK51.25918121
47ICK1.25115642
48TRIB31.24850481
49AURKB1.17605385
50PIM11.17500656
51ARAF1.15116462
52TTN1.14867126
53JAK31.14824116
54IKBKB1.14135391
55SIK11.12301504
56ATR1.12101601
57EPHB21.11018323
58MKNK21.10716374
59MAP2K31.08617773
60KIT1.07572385
61MAP3K31.07364267
62TYRO31.04739675
63TTK1.04472707
64MAP3K11.03786640
65PLK11.02724467
66CDK71.02552828
67ZAP701.02493485
68TEC1.00218220
69STK100.99359383
70MAP3K140.98767966
71TBK10.96793367
72BRAF0.95100824
73ADRBK20.94820095
74TYK20.94564270
75CDK80.94230839
76MAP3K130.93135051
77NEK10.92317608
78RIPK40.91507379
79MAP4K10.91327487
80BRSK10.90895709
81LRRK20.89471708
82PIK3CG0.87736193
83PLK40.87684893
84NUAK10.87682379
85STK40.87608638
86IRAK20.86875624
87AURKA0.86383760
88RPS6KB20.85838161
89TESK20.84229274
90BMPR20.83227144
91TSSK60.78893491
92MAP3K80.77528844
93BMX0.76849837
94MAPKAPK30.75811661
95TAOK20.73982559
96BLK0.72026251
97IKBKE0.68905857
98LIMK10.67626160
99RAF10.67180558
100NEK90.65136997
101CSNK2A10.64723524
102TGFBR10.63919750
103TIE10.62524087
104PTK20.61544203
105GRK10.61371673
106TRPM70.61217787
107EPHA20.60649898
108RPS6KA50.60213860
109CSF1R0.59928822
110PAK40.57757782
111ATM0.57756807
112STK240.57702333
113CDK40.56641239
114MAP2K60.56288086
115CCNB10.55130886
116PDGFRB0.54441330
117RPS6KL10.54000327
118RPS6KC10.54000327
119DAPK30.53886010
120IRAK10.53702040
121CSNK2A20.53438968
122CLK10.53422211
123CHEK20.52438715
124MUSK0.51807381
125STK30.50983088
126TAOK10.50463168
127CHUK0.49503685
128RPS6KA20.48015543
129EPHB10.47219458
130FGFR40.47094908
131MAPKAPK20.46701056
132MAP3K60.46542377
133PRKD20.46125447
134TAOK30.45948209
135JAK10.45575376
136MAP3K50.45204490
137CDK60.45145958
138LYN0.44781751
139JAK20.43670091
140CHEK10.42500267
141YES10.42028113
142RPS6KA60.41664836
143MAPK40.40114087
144GSK3A0.39220788
145PRKG20.39213925
146TXK0.38894958
147EPHA30.38230354
148MAP2K70.38217384
149TNK20.37642670
150PAK20.37431313
151PRKCI0.37116962
152PDPK10.35195376
153MARK30.34416364
154LCK0.33798373
155SYK0.33142888
156SIK30.31055183
157PAK10.30560519
158HIPK20.30366710
159MYLK0.29727579
160MST1R0.28428950
161SMG10.25748443
162HCK0.25403334
163CAMKK20.24203152

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.81667082
2Ribosome_Homo sapiens_hsa030104.09393423
3Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008603.46298154
4Proteasome_Homo sapiens_hsa030503.20355135
5Mismatch repair_Homo sapiens_hsa034302.99803963
6Lysosome_Homo sapiens_hsa041422.98810004
7RNA polymerase_Homo sapiens_hsa030202.96433395
8Pyrimidine metabolism_Homo sapiens_hsa002402.68526800
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.67591918
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.58967301
11Homologous recombination_Homo sapiens_hsa034402.54967811
12Nucleotide excision repair_Homo sapiens_hsa034202.51693262
13Osteoclast differentiation_Homo sapiens_hsa043802.51380173
14Base excision repair_Homo sapiens_hsa034102.45019895
15Spliceosome_Homo sapiens_hsa030402.30029483
16Staphylococcus aureus infection_Homo sapiens_hsa051502.15173134
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.02241173
18Salmonella infection_Homo sapiens_hsa051321.99901562
19One carbon pool by folate_Homo sapiens_hsa006701.98281482
20p53 signaling pathway_Homo sapiens_hsa041151.97642227
21Cell cycle_Homo sapiens_hsa041101.90630936
22Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.90342742
23Non-homologous end-joining_Homo sapiens_hsa034501.90067364
24Fanconi anemia pathway_Homo sapiens_hsa034601.84162587
25Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.78894091
26Prion diseases_Homo sapiens_hsa050201.75015927
27Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.69113983
28RNA transport_Homo sapiens_hsa030131.69108115
29African trypanosomiasis_Homo sapiens_hsa051431.62095993
30Parkinsons disease_Homo sapiens_hsa050121.59667998
31Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.57448329
32Oxidative phosphorylation_Homo sapiens_hsa001901.50132054
33Purine metabolism_Homo sapiens_hsa002301.46461587
34Basal transcription factors_Homo sapiens_hsa030221.38735848
35Sulfur relay system_Homo sapiens_hsa041221.38726106
36Graft-versus-host disease_Homo sapiens_hsa053321.37000816
37Protein export_Homo sapiens_hsa030601.36537457
38RNA degradation_Homo sapiens_hsa030181.36504284
39Phagosome_Homo sapiens_hsa041451.32716811
40Hematopoietic cell lineage_Homo sapiens_hsa046401.30518420
41Folate biosynthesis_Homo sapiens_hsa007901.29189581
42Huntingtons disease_Homo sapiens_hsa050161.24846183
43Complement and coagulation cascades_Homo sapiens_hsa046101.22438013
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.19547810
45Herpes simplex infection_Homo sapiens_hsa051681.13263527
46Hepatitis C_Homo sapiens_hsa051601.12161353
47Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.11133164
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10209871
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.06056415
50Malaria_Homo sapiens_hsa051441.01152102
51ECM-receptor interaction_Homo sapiens_hsa045120.94827876
52Arachidonic acid metabolism_Homo sapiens_hsa005900.93348948
53Small cell lung cancer_Homo sapiens_hsa052220.92442931
54Adipocytokine signaling pathway_Homo sapiens_hsa049200.91679147
55Apoptosis_Homo sapiens_hsa042100.91274664
56SNARE interactions in vesicular transport_Homo sapiens_hsa041300.89728226
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89567561
58Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.88743793
59Legionellosis_Homo sapiens_hsa051340.88482260
60Alzheimers disease_Homo sapiens_hsa050100.87979319
61Vibrio cholerae infection_Homo sapiens_hsa051100.86910636
62B cell receptor signaling pathway_Homo sapiens_hsa046620.86581429
63Sulfur metabolism_Homo sapiens_hsa009200.86364517
64Epstein-Barr virus infection_Homo sapiens_hsa051690.86288525
65Chemokine signaling pathway_Homo sapiens_hsa040620.86124393
66Type I diabetes mellitus_Homo sapiens_hsa049400.85944314
67Galactose metabolism_Homo sapiens_hsa000520.84211038
68Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81808075
69Viral myocarditis_Homo sapiens_hsa054160.81564167
70Systemic lupus erythematosus_Homo sapiens_hsa053220.81548295
71Linoleic acid metabolism_Homo sapiens_hsa005910.76990998
72Collecting duct acid secretion_Homo sapiens_hsa049660.75143023
73Glutathione metabolism_Homo sapiens_hsa004800.74464623
74Mineral absorption_Homo sapiens_hsa049780.74384951
75Bladder cancer_Homo sapiens_hsa052190.70589089
76Measles_Homo sapiens_hsa051620.69321223
77Pentose phosphate pathway_Homo sapiens_hsa000300.68850035
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.68618223
79* Sphingolipid metabolism_Homo sapiens_hsa006000.68286496
80Prolactin signaling pathway_Homo sapiens_hsa049170.65710851
81Viral carcinogenesis_Homo sapiens_hsa052030.65525329
82Antigen processing and presentation_Homo sapiens_hsa046120.65494005
83N-Glycan biosynthesis_Homo sapiens_hsa005100.64673649
84Caffeine metabolism_Homo sapiens_hsa002320.64216524
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63406958
86Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60652889
87RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.60582570
88Fructose and mannose metabolism_Homo sapiens_hsa000510.59887543
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59738375
90Proteoglycans in cancer_Homo sapiens_hsa052050.59254010
91* Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.58392199
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.57295673
93Hepatitis B_Homo sapiens_hsa051610.56797617
94Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.56507530
95Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.55969305
96* VEGF signaling pathway_Homo sapiens_hsa043700.55619616
97Leishmaniasis_Homo sapiens_hsa051400.54239013
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.53652729
99NF-kappa B signaling pathway_Homo sapiens_hsa040640.52840724
100Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.52733940
101Notch signaling pathway_Homo sapiens_hsa043300.51312375
102T cell receptor signaling pathway_Homo sapiens_hsa046600.50526163
103Toxoplasmosis_Homo sapiens_hsa051450.49534977
104Intestinal immune network for IgA production_Homo sapiens_hsa046720.49158304
105Endocytosis_Homo sapiens_hsa041440.47880997
106HTLV-I infection_Homo sapiens_hsa051660.47528977
107Cysteine and methionine metabolism_Homo sapiens_hsa002700.46381216
108Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.46083825
109Jak-STAT signaling pathway_Homo sapiens_hsa046300.45991472
110Leukocyte transendothelial migration_Homo sapiens_hsa046700.45130940
111HIF-1 signaling pathway_Homo sapiens_hsa040660.44545947
112* Sphingolipid signaling pathway_Homo sapiens_hsa040710.44525316
113Influenza A_Homo sapiens_hsa051640.44508753
114Focal adhesion_Homo sapiens_hsa045100.43915790
115TNF signaling pathway_Homo sapiens_hsa046680.43412687
116Pancreatic cancer_Homo sapiens_hsa052120.43225104
117PPAR signaling pathway_Homo sapiens_hsa033200.42427736
118* Metabolic pathways_Homo sapiens_hsa011000.41419332
119AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.36661761
120Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.34760935
121Protein digestion and absorption_Homo sapiens_hsa049740.34524433
122Allograft rejection_Homo sapiens_hsa053300.34513804
123Pertussis_Homo sapiens_hsa051330.33481033
124Toll-like receptor signaling pathway_Homo sapiens_hsa046200.33404496
125Shigellosis_Homo sapiens_hsa051310.32837105
126* Tuberculosis_Homo sapiens_hsa051520.31114388
127Autoimmune thyroid disease_Homo sapiens_hsa053200.30847796
128Type II diabetes mellitus_Homo sapiens_hsa049300.30411355
129PI3K-Akt signaling pathway_Homo sapiens_hsa041510.30382974
130mRNA surveillance pathway_Homo sapiens_hsa030150.30028061
131Chronic myeloid leukemia_Homo sapiens_hsa052200.28804317
132Insulin resistance_Homo sapiens_hsa049310.28295078
133ABC transporters_Homo sapiens_hsa020100.28149973
134Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27847043
135Acute myeloid leukemia_Homo sapiens_hsa052210.27672224
136Other glycan degradation_Homo sapiens_hsa005110.26677990
137NOD-like receptor signaling pathway_Homo sapiens_hsa046210.26561793
138Selenocompound metabolism_Homo sapiens_hsa004500.26350297
139Renal cell carcinoma_Homo sapiens_hsa052110.25736348
140Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25633796
141Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.24757348
142MicroRNAs in cancer_Homo sapiens_hsa052060.24704186
143TGF-beta signaling pathway_Homo sapiens_hsa043500.24621282
144MAPK signaling pathway_Homo sapiens_hsa040100.23989423
145Central carbon metabolism in cancer_Homo sapiens_hsa052300.23717110
146Primary immunodeficiency_Homo sapiens_hsa053400.23382810
147Thyroid cancer_Homo sapiens_hsa052160.23318280
148Rheumatoid arthritis_Homo sapiens_hsa053230.22491153
149Asthma_Homo sapiens_hsa053100.21957867
150Amoebiasis_Homo sapiens_hsa051460.21305910
151Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19056213
152Cyanoamino acid metabolism_Homo sapiens_hsa004600.17395026
153Vitamin digestion and absorption_Homo sapiens_hsa049770.17268837

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