IPP

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





Description: The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)5.92555069
2COPI coating of Golgi vesicle (GO:0048205)5.92555069
3L-phenylalanine catabolic process (GO:0006559)5.10749767
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.10749767
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.90179787
6L-phenylalanine metabolic process (GO:0006558)4.90179787
7aromatic amino acid family catabolic process (GO:0009074)4.29010489
8establishment of protein localization to mitochondrial membrane (GO:0090151)4.22458771
9COPII vesicle coating (GO:0048208)4.00064112
10cysteine metabolic process (GO:0006534)3.97549449
11folic acid-containing compound biosynthetic process (GO:0009396)3.96977633
12lysine metabolic process (GO:0006553)3.94623006
13lysine catabolic process (GO:0006554)3.94623006
14glycine metabolic process (GO:0006544)3.89287634
15water-soluble vitamin biosynthetic process (GO:0042364)3.84560038
16regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.82674316
17alpha-linolenic acid metabolic process (GO:0036109)3.75149375
18kynurenine metabolic process (GO:0070189)3.71606726
19serine family amino acid biosynthetic process (GO:0009070)3.68924420
20ubiquinone biosynthetic process (GO:0006744)3.68629192
21epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.64922522
22ubiquinone metabolic process (GO:0006743)3.62491575
23neural tube formation (GO:0001841)3.62133583
24retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.57009808
25glyoxylate metabolic process (GO:0046487)3.54326928
26serine family amino acid catabolic process (GO:0009071)3.54131674
27protein complex biogenesis (GO:0070271)3.51883569
28respiratory chain complex IV assembly (GO:0008535)3.51808143
29bile acid biosynthetic process (GO:0006699)3.51577920
30tryptophan catabolic process (GO:0006569)3.49672339
31indole-containing compound catabolic process (GO:0042436)3.49672339
32indolalkylamine catabolic process (GO:0046218)3.49672339
33nonmotile primary cilium assembly (GO:0035058)3.48912617
34sulfur amino acid catabolic process (GO:0000098)3.48131341
35serine family amino acid metabolic process (GO:0009069)3.47307672
36tryptophan metabolic process (GO:0006568)3.44600058
37mitochondrial respiratory chain complex assembly (GO:0033108)3.44437927
38epithelial cilium movement (GO:0003351)3.42787707
39protein K6-linked ubiquitination (GO:0085020)3.41580602
40DNA deamination (GO:0045006)3.41070604
41urea metabolic process (GO:0019627)3.36715333
42urea cycle (GO:0000050)3.36715333
43folic acid metabolic process (GO:0046655)3.36564045
44misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.33074497
45NADH dehydrogenase complex assembly (GO:0010257)3.29757128
46mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.29757128
47mitochondrial respiratory chain complex I assembly (GO:0032981)3.29757128
48cullin deneddylation (GO:0010388)3.28595178
49fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.25924784
50detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.24578339
51aspartate family amino acid catabolic process (GO:0009068)3.22944682
52nucleotide transmembrane transport (GO:1901679)3.22831813
53platelet dense granule organization (GO:0060155)3.22703563
54aromatic amino acid family metabolic process (GO:0009072)3.21711162
55one-carbon metabolic process (GO:0006730)3.17473209
56cytochrome complex assembly (GO:0017004)3.16067747
57regulation of cilium movement (GO:0003352)3.14692907
58bile acid metabolic process (GO:0008206)3.14338879
59ketone body metabolic process (GO:1902224)3.13743805
60negative regulation of fibrinolysis (GO:0051918)3.13265720
61regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.13202370
62behavioral response to nicotine (GO:0035095)3.12679799
63protoporphyrinogen IX biosynthetic process (GO:0006782)3.10971105
64alpha-amino acid catabolic process (GO:1901606)3.10670635
65protoporphyrinogen IX metabolic process (GO:0046501)3.10390045
66cilium morphogenesis (GO:0060271)3.09622667
67complement activation, alternative pathway (GO:0006957)3.09619112
68ribonucleoprotein complex disassembly (GO:0032988)3.09552285
69organelle disassembly (GO:1903008)3.09467520
70intraciliary transport (GO:0042073)3.09256282
71axoneme assembly (GO:0035082)3.07643177
72L-serine metabolic process (GO:0006563)3.07410076
73response to pheromone (GO:0019236)3.05896422
742-oxoglutarate metabolic process (GO:0006103)3.03924555
75amino-acid betaine metabolic process (GO:0006577)3.02503479
76regulation of protein activation cascade (GO:2000257)3.01424746
77drug transmembrane transport (GO:0006855)2.99959440
78triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.98324349
79quinone biosynthetic process (GO:1901663)2.97745393
80ethanol oxidation (GO:0006069)2.97123351
81folic acid-containing compound metabolic process (GO:0006760)2.96494623
82ncRNA 3-end processing (GO:0043628)2.95614511
83maturation of 5.8S rRNA (GO:0000460)2.95240715
84nitrogen cycle metabolic process (GO:0071941)2.95040756
85RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.93521704
86tetrahydrofolate metabolic process (GO:0046653)2.92257099
87nucleobase biosynthetic process (GO:0046112)2.90859967
88peroxisome fission (GO:0016559)2.90558727
89L-fucose catabolic process (GO:0042355)2.89679823
90fucose catabolic process (GO:0019317)2.89679823
91L-fucose metabolic process (GO:0042354)2.89679823
92dopamine transport (GO:0015872)2.88160371
93acetyl-CoA metabolic process (GO:0006084)2.88036145
94mitotic chromosome condensation (GO:0007076)2.87827823
95protein autoprocessing (GO:0016540)2.87796457
96cellular amino acid catabolic process (GO:0009063)2.87723095
97high-density lipoprotein particle remodeling (GO:0034375)2.87384850
98valine metabolic process (GO:0006573)2.85913063
99protein carboxylation (GO:0018214)2.85373697
100peptidyl-glutamic acid carboxylation (GO:0017187)2.85373697
101positive regulation of mitochondrial fission (GO:0090141)2.85347154
102protein-cofactor linkage (GO:0018065)2.85015523
103coenzyme catabolic process (GO:0009109)2.84431537
104protein polyglutamylation (GO:0018095)2.83366472
105urate metabolic process (GO:0046415)2.83254995
106homocysteine metabolic process (GO:0050667)2.83004001
107piRNA metabolic process (GO:0034587)2.82503774
108pteridine-containing compound biosynthetic process (GO:0042559)2.82349203
109tyrosine metabolic process (GO:0006570)2.82146183
110regulation of complement activation (GO:0030449)2.81606042
111tricarboxylic acid metabolic process (GO:0072350)2.81342436
112L-alpha-amino acid transmembrane transport (GO:1902475)2.81042285
113response to misfolded protein (GO:0051788)2.80598228
114regulation of cholesterol biosynthetic process (GO:0045540)2.80346552
115positive regulation of receptor biosynthetic process (GO:0010870)2.78967099
116regulation of hexokinase activity (GO:1903299)2.77963040
117regulation of glucokinase activity (GO:0033131)2.77963040
118cilium organization (GO:0044782)2.77391054
119cellular ketone body metabolic process (GO:0046950)2.76524535
120transcription elongation from RNA polymerase I promoter (GO:0006362)2.76061727
121dicarboxylic acid biosynthetic process (GO:0043650)2.75409399
122cilium movement (GO:0003341)2.74349974
123protein localization to cilium (GO:0061512)2.74184671
124photoreceptor cell maintenance (GO:0045494)2.74166853
125intestinal cholesterol absorption (GO:0030299)2.74154361
126proteasome assembly (GO:0043248)2.73550797
127detection of light stimulus involved in sensory perception (GO:0050962)2.71611816
128detection of light stimulus involved in visual perception (GO:0050908)2.71611816
129regulation of fibrinolysis (GO:0051917)2.70221454
130neuronal action potential propagation (GO:0019227)2.69124537
131protein deneddylation (GO:0000338)2.69124303
132peroxisome organization (GO:0007031)2.68852184
133cilium assembly (GO:0042384)2.68504864
134branched-chain amino acid catabolic process (GO:0009083)2.68288044
135synapsis (GO:0007129)2.66906834
136cytidine deamination (GO:0009972)2.66645504
137cytidine metabolic process (GO:0046087)2.66645504
138cytidine catabolic process (GO:0006216)2.66645504
139preassembly of GPI anchor in ER membrane (GO:0016254)2.66338215
140coenzyme A metabolic process (GO:0015936)2.64827648
141auditory receptor cell stereocilium organization (GO:0060088)2.64717812
142indolalkylamine metabolic process (GO:0006586)2.64178749
143lipid particle organization (GO:0034389)2.64064403
144attachment of spindle microtubules to kinetochore (GO:0008608)2.62874617
145mitochondrial RNA metabolic process (GO:0000959)2.62715882
146purine nucleobase biosynthetic process (GO:0009113)2.61083165
147macroautophagy (GO:0016236)2.60812674
148mitotic nuclear envelope disassembly (GO:0007077)2.60363484
1494-hydroxyproline metabolic process (GO:0019471)2.60266569
150carnitine metabolic process (GO:0009437)2.60118855
151regulation of fatty acid beta-oxidation (GO:0031998)2.59965588
152mitotic sister chromatid segregation (GO:0000070)2.59247964
153mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.58466608
154regulation of cholesterol homeostasis (GO:2000188)2.58411554
155triglyceride homeostasis (GO:0070328)2.57438891
156acylglycerol homeostasis (GO:0055090)2.57438891
157regulation of cholesterol metabolic process (GO:0090181)2.57130108
158DNA replication-dependent nucleosome organization (GO:0034723)2.57008356
159DNA replication-dependent nucleosome assembly (GO:0006335)2.57008356
160fatty acid beta-oxidation (GO:0006635)2.56987279
161glutamate metabolic process (GO:0006536)2.56421875
162reverse cholesterol transport (GO:0043691)2.55435588
163alpha-amino acid biosynthetic process (GO:1901607)2.55107677
164negative regulation of cytosolic calcium ion concentration (GO:0051481)2.54229145
165regulation of relaxation of muscle (GO:1901077)2.53698225
166cornea development in camera-type eye (GO:0061303)2.52918312
167microtubule severing (GO:0051013)2.52603498
168nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.51808542
169inner ear receptor stereocilium organization (GO:0060122)2.51634122
170reciprocal meiotic recombination (GO:0007131)2.49124535
171reciprocal DNA recombination (GO:0035825)2.49124535
172regulation of protein glycosylation (GO:0060049)2.44465696
173rRNA methylation (GO:0031167)2.42996090
174exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.42116530
175C-terminal protein amino acid modification (GO:0018410)2.40610382
176G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.39913920
177regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.39650832
178rRNA modification (GO:0000154)2.39561409
179regulation of mitochondrial translation (GO:0070129)2.39212845
180regulation of memory T cell differentiation (GO:0043380)2.38060324
181left/right axis specification (GO:0070986)2.37389611
182pyrimidine ribonucleoside catabolic process (GO:0046133)2.37230534
183keratinocyte development (GO:0003334)2.36765009
184regulation of timing of cell differentiation (GO:0048505)2.35927992
185acrosome assembly (GO:0001675)2.34718790
186GPI anchor metabolic process (GO:0006505)2.34544789
187termination of RNA polymerase I transcription (GO:0006363)2.34368455
188L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.33979898
189regulation of action potential (GO:0098900)2.33112000
190estrogen biosynthetic process (GO:0006703)2.32602640
191C-terminal protein lipidation (GO:0006501)2.32325056
192anterograde synaptic vesicle transport (GO:0048490)2.30582267

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.38100732
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.26346959
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.98494653
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.76312214
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.43016476
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.34803636
7EGR1_23403033_ChIP-Seq_LIVER_Mouse2.89212110
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.80289416
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.79904356
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.79842823
11AR_21909140_ChIP-Seq_LNCAP_Human2.79586613
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.78839370
13VDR_22108803_ChIP-Seq_LS180_Human2.77391452
14GBX2_23144817_ChIP-Seq_PC3_Human2.76451214
15ZNF274_21170338_ChIP-Seq_K562_Hela2.72770699
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.71472684
17IGF1R_20145208_ChIP-Seq_DFB_Human2.60753949
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.50383654
19TAF15_26573619_Chip-Seq_HEK293_Human2.44515243
20KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.42752684
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.36056159
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.34526841
23MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.32820745
24FUS_26573619_Chip-Seq_HEK293_Human2.31524753
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.30195808
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.27185156
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.26666985
28E2F4_17652178_ChIP-ChIP_JURKAT_Human2.26102609
29SALL1_21062744_ChIP-ChIP_HESCs_Human2.20967293
30ZNF263_19887448_ChIP-Seq_K562_Human2.13865357
31CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.13270487
32EWS_26573619_Chip-Seq_HEK293_Human2.12207630
33CREB1_15753290_ChIP-ChIP_HEK293T_Human2.09361114
34GATA1_22025678_ChIP-Seq_K562_Human2.05748241
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.05394120
36E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.02287138
37MYC_18555785_ChIP-Seq_MESCs_Mouse1.98220693
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.96034626
39P300_19829295_ChIP-Seq_ESCs_Human1.93645640
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.88026265
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.87740941
42FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.86674624
43RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84376412
44JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.84215623
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.84171615
46PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81273786
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.79639511
48ER_23166858_ChIP-Seq_MCF-7_Human1.79280327
49PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.78811773
50NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.78146265
51E2F1_21310950_ChIP-Seq_MCF-7_Human1.74829530
52PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74569218
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.73980812
54KDM5A_27292631_Chip-Seq_BREAST_Human1.71066664
55STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.70574363
56PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.70389004
57MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.69187042
58MYCN_18555785_ChIP-Seq_MESCs_Mouse1.69064749
59MYC_18358816_ChIP-ChIP_MESCs_Mouse1.66240524
60EST1_17652178_ChIP-ChIP_JURKAT_Human1.65435849
61KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.64166800
62* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.63611357
63GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62542705
64MYC_22102868_ChIP-Seq_BL_Human1.62153977
65DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.59081672
66SMAD4_21799915_ChIP-Seq_A2780_Human1.58565013
67MYC_19030024_ChIP-ChIP_MESCs_Mouse1.58516879
68* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.56371548
69* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.54873740
70SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53585757
71DCP1A_22483619_ChIP-Seq_HELA_Human1.53477841
72TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53465189
73* GABP_19822575_ChIP-Seq_HepG2_Human1.53217487
74ETS1_20019798_ChIP-Seq_JURKAT_Human1.52270685
75IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.51010489
76CBP_20019798_ChIP-Seq_JUKART_Human1.51010489
77VDR_23849224_ChIP-Seq_CD4+_Human1.50835412
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.50144471
79* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.50084875
80EZH2_27294783_Chip-Seq_NPCs_Mouse1.50017913
81STAT3_23295773_ChIP-Seq_U87_Human1.47294465
82CIITA_25753668_ChIP-Seq_RAJI_Human1.46912978
83TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46192657
84MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.46123906
85PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.45779186
86NR3C1_21868756_ChIP-Seq_MCF10A_Human1.43661239
87SUZ12_27294783_Chip-Seq_NPCs_Mouse1.43220818
88FOXP3_21729870_ChIP-Seq_TREG_Human1.42752936
89NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.41448433
90NANOG_19829295_ChIP-Seq_ESCs_Human1.41101371
91SOX2_19829295_ChIP-Seq_ESCs_Human1.41101371
92UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40268102
93PCGF2_27294783_Chip-Seq_NPCs_Mouse1.39536809
94TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36746723
95PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35584171
96EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.33390224
97TFEB_21752829_ChIP-Seq_HELA_Human1.32280637
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31439367
99RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.31289393
100TP53_22573176_ChIP-Seq_HFKS_Human1.30680501
101NANOG_18555785_Chip-Seq_ESCs_Mouse1.30152016
102EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.29771250
103TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29707680
104PADI4_21655091_ChIP-ChIP_MCF-7_Human1.29640886
105HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.28878423
106AR_25329375_ChIP-Seq_VCAP_Human1.28379670
107SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27602724
108TCF4_23295773_ChIP-Seq_U87_Human1.26237728
109CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.25893198
110SMAD3_21741376_ChIP-Seq_EPCs_Human1.25520963
111* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.24126980
112BCAT_22108803_ChIP-Seq_LS180_Human1.23724220
113TCF4_22108803_ChIP-Seq_LS180_Human1.23650110
114NFE2_27457419_Chip-Seq_LIVER_Mouse1.23493206
115CLOCK_20551151_ChIP-Seq_293T_Human1.23324662
116OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22282221
117CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.21933940
118* CDX2_22108803_ChIP-Seq_LS180_Human1.21890196
119P53_22387025_ChIP-Seq_ESCs_Mouse1.21394887
120CRX_20693478_ChIP-Seq_RETINA_Mouse1.21140194
121CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.20870674
122MYC_18940864_ChIP-ChIP_HL60_Human1.20690811
123IRF1_19129219_ChIP-ChIP_H3396_Human1.20060838
124HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.18786502
125E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.17512743
126HOXB4_20404135_ChIP-ChIP_EML_Mouse1.16736303
127KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15680165
128POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.15108943
129POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13083910
130EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.13076654
131KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12754041
132YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11916579
133CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11601931
134CBX2_27304074_Chip-Seq_ESCs_Mouse1.10360873
135FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10172732
136* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08838666
137BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.08387151
138THAP11_20581084_ChIP-Seq_MESCs_Mouse1.07911526
139* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.07798158
140STAT3_18555785_Chip-Seq_ESCs_Mouse1.07698710
141ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.06998200
142XRN2_22483619_ChIP-Seq_HELA_Human1.06758881
143RUNX2_22187159_ChIP-Seq_PCA_Human1.06624147
144RNF2_27304074_Chip-Seq_NSC_Mouse1.06498570
145* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.06438080
146* FOXA1_25329375_ChIP-Seq_VCAP_Human1.06438080
147E2F1_18555785_Chip-Seq_ESCs_Mouse1.05426355
148SUZ12_18555785_Chip-Seq_ESCs_Mouse1.03926101
149BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03026960
150OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03024515
151CMYC_18555785_Chip-Seq_ESCs_Mouse1.02833511
152TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.02725676
153AR_20517297_ChIP-Seq_VCAP_Human1.02501983
154GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.02283430
155P300_18555785_Chip-Seq_ESCs_Mouse1.02179994
156* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02138127
157NANOG_18555785_ChIP-Seq_MESCs_Mouse1.01947956
158* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.01705030
159FLI1_21867929_ChIP-Seq_TH2_Mouse1.00958421
160NANOG_21062744_ChIP-ChIP_HESCs_Human1.00935914
161NOTCH1_21737748_ChIP-Seq_TLL_Human1.00700698
162TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.00698271
163EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.00519531
164MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.99290628
165SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.98214410
166SRF_21415370_ChIP-Seq_HL-1_Mouse0.96887119
167CHD1_26751641_Chip-Seq_LNCaP_Human0.93022036
168STAT3_1855785_ChIP-Seq_MESCs_Mouse0.91375044
169ELK1_19687146_ChIP-ChIP_HELA_Human0.88406985
170HTT_18923047_ChIP-ChIP_STHdh_Human0.88210998
171MYC_19079543_ChIP-ChIP_MESCs_Mouse0.88193442
172TBX5_21415370_ChIP-Seq_HL-1_Mouse0.87742235
173BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.85798863
174CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.85108277
175DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.83956894
176SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.83539537
177* HNF4A_19822575_ChIP-Seq_HepG2_Human0.83452893
178SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.82766846
179CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.81813521
180* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.81691452
181* TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.80516637
182TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.78848935
183TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.78321119
184FOXA2_19822575_ChIP-Seq_HepG2_Human0.76752935
185NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.75951063
186SOX2_27498859_Chip-Seq_STOMACH_Mouse0.73965015
187FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.71941592

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.53788153
2MP0005360_urolithiasis5.07324566
3MP0005365_abnormal_bile_salt4.69643019
4MP0003806_abnormal_nucleotide_metabolis4.13620027
5MP0005085_abnormal_gallbladder_physiolo3.85337561
6MP0004145_abnormal_muscle_electrophysio3.16349379
7MP0002102_abnormal_ear_morphology3.13613565
8MP0008875_abnormal_xenobiotic_pharmacok2.98899461
9MP0003195_calcinosis2.84672515
10MP0003136_yellow_coat_color2.78560048
11MP0003252_abnormal_bile_duct2.73194878
12MP0009840_abnormal_foam_cell2.60766751
13MP0002638_abnormal_pupillary_reflex2.49614684
14MP0000569_abnormal_digit_pigmentation2.45939029
15MP0000013_abnormal_adipose_tissue2.30498430
16MP0004264_abnormal_extraembryonic_tissu2.26015050
17MP0005332_abnormal_amino_acid2.18406097
18MP0003183_abnormal_peptide_metabolism2.16036608
19MP0004043_abnormal_pH_regulation2.15791959
20MP0010329_abnormal_lipoprotein_level2.13713907
21MP0005551_abnormal_eye_electrophysiolog2.12917184
22MP0000372_irregular_coat_pigmentation2.09355718
23MP0003693_abnormal_embryo_hatching2.07545302
24MP0001984_abnormal_olfaction2.07527920
25MP0010094_abnormal_chromosome_stability2.07191530
26MP0001529_abnormal_vocalization2.04396956
27MP0001666_abnormal_nutrient_absorption2.02256422
28MP0002877_abnormal_melanocyte_morpholog2.01407800
29MP0005253_abnormal_eye_physiology2.00552232
30MP0004957_abnormal_blastocyst_morpholog1.91620019
31MP0004215_abnormal_myocardial_fiber1.86495463
32MP0005171_absent_coat_pigmentation1.85710863
33MP0005220_abnormal_exocrine_pancreas1.83455653
34MP0000609_abnormal_liver_physiology1.81272502
35MP0005670_abnormal_white_adipose1.80917137
36MP0002938_white_spotting1.78489018
37MP0003011_delayed_dark_adaptation1.78034046
38MP0000427_abnormal_hair_cycle1.76050783
39MP0003718_maternal_effect1.73533541
40MP0003111_abnormal_nucleus_morphology1.72837760
41MP0006276_abnormal_autonomic_nervous1.71668619
42MP0003787_abnormal_imprinting1.69850964
43MP0000749_muscle_degeneration1.59492213
44MP0003077_abnormal_cell_cycle1.59322068
45MP0002234_abnormal_pharynx_morphology1.58156928
46MP0008877_abnormal_DNA_methylation1.57169374
47MP0009643_abnormal_urine_homeostasis1.54413404
48MP0001764_abnormal_homeostasis1.52127385
49MP0006036_abnormal_mitochondrial_physio1.51462916
50MP0004147_increased_porphyrin_level1.50770409
51MP0005083_abnormal_biliary_tract1.50244950
52MP0001944_abnormal_pancreas_morphology1.43618607
53MP0001661_extended_life_span1.43495392
54MP0002118_abnormal_lipid_homeostasis1.43249373
55MP0003880_abnormal_central_pattern1.40405698
56MP0009046_muscle_twitch1.40279697
57MP0001730_embryonic_growth_arrest1.38325044
58MP0004142_abnormal_muscle_tone1.37538792
59MP0002736_abnormal_nociception_after1.34373130
60MP0005174_abnormal_tail_pigmentation1.33401859
61MP0001986_abnormal_taste_sensitivity1.30903431
62MP0005645_abnormal_hypothalamus_physiol1.30760890
63MP0002078_abnormal_glucose_homeostasis1.28488282
64MP0003137_abnormal_impulse_conducting1.26899666
65MP0003656_abnormal_erythrocyte_physiolo1.26632537
66MP0000631_abnormal_neuroendocrine_gland1.26160782
67MP0000003_abnormal_adipose_tissue1.25745064
68MP0002837_dystrophic_cardiac_calcinosis1.25587377
69MP0001968_abnormal_touch/_nociception1.25418354
70MP0005408_hypopigmentation1.22711039
71MP0001485_abnormal_pinna_reflex1.22566672
72MP0005319_abnormal_enzyme/_coenzyme1.22254471
73MP0002163_abnormal_gland_morphology1.22236645
74MP0004084_abnormal_cardiac_muscle1.21401227
75MP0005058_abnormal_lysosome_morphology1.21148464
76MP0000371_diluted_coat_color1.20707342
77MP0003123_paternal_imprinting1.20481948
78MP0000598_abnormal_liver_morphology1.19803979
79MP0005076_abnormal_cell_differentiation1.13257553
80MP0008789_abnormal_olfactory_epithelium1.11385534
81MP0005636_abnormal_mineral_homeostasis1.11384192
82MP0005646_abnormal_pituitary_gland1.10543046
83MP0005367_renal/urinary_system_phenotyp1.10300569
84MP0000516_abnormal_urinary_system1.10300569
85MP0010352_gastrointestinal_tract_polyps1.10171697
86MP0001756_abnormal_urination1.09482775
87MP0006292_abnormal_olfactory_placode1.09361968
88MP0003172_abnormal_lysosome_physiology1.08421578
89MP0003646_muscle_fatigue1.08171392
90MP0004036_abnormal_muscle_relaxation1.07778551
91MP0008058_abnormal_DNA_repair1.06466139
92MP0004924_abnormal_behavior1.06061949
93MP0005386_behavior/neurological_phenoty1.06061949
94MP0002138_abnormal_hepatobiliary_system1.06023325
95MP0008057_abnormal_DNA_replication1.05825036
96MP0009697_abnormal_copulation1.05533818
97MP0009672_abnormal_birth_weight1.05247969
98MP0004019_abnormal_vitamin_homeostasis1.04165540
99MP0000647_abnormal_sebaceous_gland1.03632205
100MP0002693_abnormal_pancreas_physiology1.02095764
101MP0002909_abnormal_adrenal_gland0.98062637
102MP0005266_abnormal_metabolism0.96985934
103MP0003868_abnormal_feces_composition0.96895130
104MP0010386_abnormal_urinary_bladder0.96467540
105MP0009745_abnormal_behavioral_response0.96016472
106MP0005620_abnormal_muscle_contractility0.95576184
107MP0003186_abnormal_redox_activity0.94509977
108MP0006054_spinal_hemorrhage0.94162712
109MP0002928_abnormal_bile_duct0.93367479
110MP0005084_abnormal_gallbladder_morpholo0.93359718
111MP0005410_abnormal_fertilization0.92588607
112MP0001324_abnormal_eye_pigmentation0.92012154
113MP0004085_abnormal_heartbeat0.91728276
114MP0005379_endocrine/exocrine_gland_phen0.91115035
115MP0008775_abnormal_heart_ventricle0.90620274
116MP0001502_abnormal_circadian_rhythm0.89982423
117MP0005395_other_phenotype0.88928844
118MP0005451_abnormal_body_composition0.88897976
119MP0005584_abnormal_enzyme/coenzyme_acti0.87656519
120MP0002735_abnormal_chemical_nociception0.87570541
121MP0001697_abnormal_embryo_size0.86787397
122MP0005666_abnormal_adipose_tissue0.86306089
123MP0002272_abnormal_nervous_system0.86233739
124MP0000778_abnormal_nervous_system0.85784921
125MP0005375_adipose_tissue_phenotype0.84565037
126MP0002095_abnormal_skin_pigmentation0.84390280
127MP0001929_abnormal_gametogenesis0.84182379
128MP0002269_muscular_atrophy0.83533346
129MP0002106_abnormal_muscle_physiology0.82862100
130MP0004185_abnormal_adipocyte_glucose0.82265661
131MP0002080_prenatal_lethality0.81937825
132MP0002160_abnormal_reproductive_system0.79228936
133MP0002752_abnormal_somatic_nervous0.79004670
134MP0008995_early_reproductive_senescence0.78903276
135MP0000026_abnormal_inner_ear0.78765376
136MP0005195_abnormal_posterior_eye0.78370553
137MP0008007_abnormal_cellular_replicative0.78269467
138MP0004484_altered_response_of0.77267668
139MP0003950_abnormal_plasma_membrane0.77047073
140MP0005330_cardiomyopathy0.76793653
141MP0001672_abnormal_embryogenesis/_devel0.75941938
142MP0005380_embryogenesis_phenotype0.75941938
143MP0002970_abnormal_white_adipose0.75917019
144MP0003567_abnormal_fetal_cardiomyocyte0.75692850
145MP0010307_abnormal_tumor_latency0.75151972
146MP0000350_abnormal_cell_proliferation0.75122071
147MP0008872_abnormal_physiological_respon0.74977920
148MP0006072_abnormal_retinal_apoptosis0.74834161
149MP0003699_abnormal_female_reproductive0.74070542
150MP0000358_abnormal_cell_content/0.73988426
151MP0002075_abnormal_coat/hair_pigmentati0.73946915
152MP0009780_abnormal_chondrocyte_physiolo0.73769217
153MP0002210_abnormal_sex_determination0.73366188
154MP0005391_vision/eye_phenotype0.73161893
155MP0002751_abnormal_autonomic_nervous0.72488321
156MP0003937_abnormal_limbs/digits/tail_de0.72333213
157MP0002282_abnormal_trachea_morphology0.72261867
158MP0003221_abnormal_cardiomyocyte_apopto0.71995134
159MP0002067_abnormal_sensory_capabilities0.71749267
160MP0003121_genomic_imprinting0.71718937
161MP0004233_abnormal_muscle_weight0.71368699
162MP0002557_abnormal_social/conspecific_i0.71147885
163MP0006035_abnormal_mitochondrial_morpho0.70572496
164MP0000639_abnormal_adrenal_gland0.70506834
165MP0003705_abnormal_hypodermis_morpholog0.70290025
166MP0002653_abnormal_ependyma_morphology0.68977614
167MP0003984_embryonic_growth_retardation0.68443446
168MP0003890_abnormal_embryonic-extraembry0.67992607
169MP0002088_abnormal_embryonic_growth/wei0.67509191
170MP0009642_abnormal_blood_homeostasis0.66686513
171MP0002876_abnormal_thyroid_physiology0.66270035
172MP0005187_abnormal_penis_morphology0.65500925
173MP0002019_abnormal_tumor_incidence0.64353347
174MP0002971_abnormal_brown_adipose0.64307009
175MP0002086_abnormal_extraembryonic_tissu0.63360729
176MP0000653_abnormal_sex_gland0.63287925
177MP0005647_abnormal_sex_gland0.62654345

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic coma (HP:0001325)5.89050889
2Intrahepatic cholestasis (HP:0001406)5.29068816
3Abnormality of aromatic amino acid family metabolism (HP:0004338)5.25731885
4Hyperinsulinemic hypoglycemia (HP:0000825)4.70146690
5Hypoglycemic seizures (HP:0002173)4.68087862
6Hypobetalipoproteinemia (HP:0003563)4.56062687
7Abnormality of monocarboxylic acid metabolism (HP:0010996)4.43820085
8Deep venous thrombosis (HP:0002625)4.21511882
9Xanthomatosis (HP:0000991)3.85415742
10Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.84056790
11Pancreatic cysts (HP:0001737)3.72693365
12Pancreatic fibrosis (HP:0100732)3.64587693
13Hyperglycemia (HP:0003074)3.59867278
14True hermaphroditism (HP:0010459)3.53766007
15Ketosis (HP:0001946)3.49885466
16Molar tooth sign on MRI (HP:0002419)3.43234884
17Abnormality of midbrain morphology (HP:0002418)3.43234884
18Hypolipoproteinemia (HP:0010981)3.39748581
19Ketoacidosis (HP:0001993)3.35977718
20Abnormality of endocrine pancreas physiology (HP:0012093)3.33416183
21Abnormality of the pancreatic islet cells (HP:0006476)3.33416183
22Nephronophthisis (HP:0000090)3.32976045
23Abnormality of methionine metabolism (HP:0010901)3.28012404
24Abnormality of the common coagulation pathway (HP:0010990)3.25225987
25Abnormality of sulfur amino acid metabolism (HP:0004339)3.24674223
26Abnormality of the renal cortex (HP:0011035)3.24327640
27Hyperglycinemia (HP:0002154)3.19340322
28Abnormality of fatty-acid metabolism (HP:0004359)3.19018530
29Hyperlipoproteinemia (HP:0010980)3.17554028
30Hyperammonemia (HP:0001987)3.17214779
31Prolonged partial thromboplastin time (HP:0003645)3.16218390
32Medial flaring of the eyebrow (HP:0010747)3.13122585
33Fat malabsorption (HP:0002630)3.11547721
34Symptomatic seizures (HP:0011145)3.11294751
35Hyperbilirubinemia (HP:0002904)3.08514839
36Acute necrotizing encephalopathy (HP:0006965)3.06597832
37Conjugated hyperbilirubinemia (HP:0002908)2.99173620
38Hepatocellular carcinoma (HP:0001402)2.99053860
39Abnormality of aspartate family amino acid metabolism (HP:0010899)2.99017338
40Pancreatic islet-cell hyperplasia (HP:0004510)2.97681917
41Exercise-induced muscle cramps (HP:0003710)2.96697985
42Abnormality of the intrinsic pathway (HP:0010989)2.95965286
43Gout (HP:0001997)2.94637243
44Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.94613313
45Abnormality of the renal medulla (HP:0100957)2.89703243
46Acute encephalopathy (HP:0006846)2.89527924
47Hyperglycinuria (HP:0003108)2.88536418
48Abnormal gallbladder morphology (HP:0012437)2.88327675
49Complement deficiency (HP:0004431)2.86637014
50Renal cortical cysts (HP:0000803)2.85287148
51Abnormality of pyrimidine metabolism (HP:0004353)2.83647320
52Abnormality of serine family amino acid metabolism (HP:0010894)2.80486783
53Abnormality of glycine metabolism (HP:0010895)2.80486783
54Cholecystitis (HP:0001082)2.73598011
55Abnormal gallbladder physiology (HP:0012438)2.73598011
56Hypoalphalipoproteinemia (HP:0003233)2.73339815
57Progressive macrocephaly (HP:0004481)2.71683880
58Late onset (HP:0003584)2.68712076
59Muscle hypertrophy of the lower extremities (HP:0008968)2.68074065
60Congenital primary aphakia (HP:0007707)2.66225298
61Increased CSF lactate (HP:0002490)2.64403763
62Skin nodule (HP:0200036)2.64145095
63Cholelithiasis (HP:0001081)2.60512908
64Gait imbalance (HP:0002141)2.59007425
65Epidermoid cyst (HP:0200040)2.58754794
66Mitochondrial inheritance (HP:0001427)2.58336229
67Abnormal mitochondria in muscle tissue (HP:0008316)2.56890698
68Generalized aminoaciduria (HP:0002909)2.55767648
69Irritability (HP:0000737)2.55481575
70Nemaline bodies (HP:0003798)2.48965548
71Abnormality of nucleobase metabolism (HP:0010932)2.48846154
72Nephrogenic diabetes insipidus (HP:0009806)2.48576856
73Aplasia/Hypoplasia of the tongue (HP:0010295)2.48366649
74Hyperventilation (HP:0002883)2.46978115
75Acanthocytosis (HP:0001927)2.45416893
76Gaze-evoked nystagmus (HP:0000640)2.44179521
77Abnormality of serum amino acid levels (HP:0003112)2.44005604
78Posterior subcapsular cataract (HP:0007787)2.43468571
79Brushfield spots (HP:0001088)2.40372415
80Muscle fiber inclusion bodies (HP:0100299)2.39248933
81Volvulus (HP:0002580)2.36702874
82Type II lissencephaly (HP:0007260)2.36405110
83Calf muscle hypertrophy (HP:0008981)2.33935393
84Abnormality of purine metabolism (HP:0004352)2.31445571
85Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.30735610
86Global brain atrophy (HP:0002283)2.30092401
87Genital tract atresia (HP:0001827)2.28381927
88Hepatic necrosis (HP:0002605)2.26586878
89Abnormal biliary tract physiology (HP:0012439)2.25336703
90Bile duct proliferation (HP:0001408)2.25336703
91Steatorrhea (HP:0002570)2.23338470
92Postaxial foot polydactyly (HP:0001830)2.21405314
93Abnormality of dicarboxylic acid metabolism (HP:0010995)2.18081544
94Dicarboxylic aciduria (HP:0003215)2.18081544
95Generalized hyperpigmentation (HP:0007440)2.18041952
96Abnormality of the anterior horn cell (HP:0006802)2.16891778
97Degeneration of anterior horn cells (HP:0002398)2.16891778
98Abnormality of complement system (HP:0005339)2.14393880
99Aplasia/Hypoplasia of the fovea (HP:0008060)2.13901483
100Hypoplasia of the fovea (HP:0007750)2.13901483
101Ependymoma (HP:0002888)2.12139580
102Sclerocornea (HP:0000647)2.11345849
103Hepatocellular necrosis (HP:0001404)2.11165223
104Methylmalonic acidemia (HP:0002912)2.08225987
105Abnormality of glycolysis (HP:0004366)2.08202050
106Increased serum pyruvate (HP:0003542)2.08202050
107Abnormality of the gallbladder (HP:0005264)2.08088047
108Birth length less than 3rd percentile (HP:0003561)2.07340822
109Vaginal atresia (HP:0000148)2.07249434
110Intestinal atresia (HP:0011100)2.07147094
111Male pseudohermaphroditism (HP:0000037)2.07018916
112Metabolic acidosis (HP:0001942)2.05804827
113Limb hypertonia (HP:0002509)2.05541496
114Nausea (HP:0002018)2.03645307
115Proximal tubulopathy (HP:0000114)2.03435887
116Insulin-resistant diabetes mellitus (HP:0000831)2.03307294
117Progressive cerebellar ataxia (HP:0002073)2.02575785
118Congenital stationary night blindness (HP:0007642)2.02324212
119Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.02241867
120Tubulointerstitial nephritis (HP:0001970)2.02199579
121Hypothermia (HP:0002045)2.01914677
122Cystic liver disease (HP:0006706)2.01318510
123Myoglobinuria (HP:0002913)2.00854756
124Insulin resistance (HP:0000855)2.00592723
125Thyroid-stimulating hormone excess (HP:0002925)1.97371984
126Aplasia/Hypoplasia of the tibia (HP:0005772)1.97266034
127Acute hepatic failure (HP:0006554)1.97103648
128Chronic hepatic failure (HP:0100626)1.96777415
129Epiphyseal stippling (HP:0010655)1.96214476
130Spastic diplegia (HP:0001264)1.95900625
131Long clavicles (HP:0000890)1.94982995
132Abnormality of the pons (HP:0007361)1.94956310
133Joint hemorrhage (HP:0005261)1.91585939
134Cerebral edema (HP:0002181)1.91567528
135Hypoplasia of the pons (HP:0012110)1.90499945
136Bifid tongue (HP:0010297)1.90457976
137Metaphyseal dysplasia (HP:0100255)1.90358759
138Congenital hepatic fibrosis (HP:0002612)1.89192198
139Poikilocytosis (HP:0004447)1.89018843
140Abnormality of the labia minora (HP:0012880)1.88717745
141Neuroendocrine neoplasm (HP:0100634)1.88193771
142Increased serum lactate (HP:0002151)1.88081239
143Abnormality of alanine metabolism (HP:0010916)1.87592860
144Hyperalaninemia (HP:0003348)1.87592860
145Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87592860
146Abnormality of the heme biosynthetic pathway (HP:0010472)1.87496215
147Megaloblastic anemia (HP:0001889)1.85486077
148Short tibia (HP:0005736)1.85289523
149Optic nerve hypoplasia (HP:0000609)1.84773340
150Postaxial hand polydactyly (HP:0001162)1.84739417
151Large for gestational age (HP:0001520)1.83084341
1523-Methylglutaconic aciduria (HP:0003535)1.82382363
153Abnormal biliary tract morphology (HP:0012440)1.82327310
154Prominent nasal bridge (HP:0000426)1.82004447
155Hemiparesis (HP:0001269)1.81533682
156Abnormality of the fovea (HP:0000493)1.81041949
157Optic disc pallor (HP:0000543)1.80151417
158Cerebellar dysplasia (HP:0007033)1.79887843
159Hypochromic microcytic anemia (HP:0004840)1.78572547
160Distal arthrogryposis (HP:0005684)1.77956635
161Death in childhood (HP:0003819)1.77823779
162Tubular atrophy (HP:0000092)1.77426747
163Lethargy (HP:0001254)1.76960886
164Genetic anticipation (HP:0003743)1.76914632
165Progressive sensorineural hearing impairment (HP:0000408)1.76569881
166Ragged-red muscle fibers (HP:0003200)1.76262365
167Abnormality of glutamine family amino acid metabolism (HP:0010902)1.75671122
168Absent speech (HP:0001344)1.75317893
169Poor coordination (HP:0002370)1.74473887
170Abnormality of vitamin metabolism (HP:0100508)1.74243872
171Narrow forehead (HP:0000341)1.73140072
172Anencephaly (HP:0002323)1.72705833
173Hypoproteinemia (HP:0003075)1.72343388
174IgM deficiency (HP:0002850)1.72278401
175Enlarged kidneys (HP:0000105)1.71394174
176Lissencephaly (HP:0001339)1.70958169
177Left ventricular hypertrophy (HP:0001712)1.70818732
178Pendular nystagmus (HP:0012043)1.70677108
179Hypoplasia of the thymus (HP:0000778)1.70632114
180Neonatal respiratory distress (HP:0002643)1.70185128
181Broad-based gait (HP:0002136)1.69970540
182Attenuation of retinal blood vessels (HP:0007843)1.68320566
183Concave nail (HP:0001598)1.67637678
184Furrowed tongue (HP:0000221)1.67456740
185Aganglionic megacolon (HP:0002251)1.67396396
186Increased purine levels (HP:0004368)1.67382048
187Hyperuricemia (HP:0002149)1.67382048
188Abnormality of transition element cation homeostasis (HP:0011030)1.66994883
189Oculomotor apraxia (HP:0000657)1.66139275
190Abnormal enzyme/coenzyme activity (HP:0012379)1.65426699
191Oral leukoplakia (HP:0002745)1.63153285

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NEK14.26846444
2CASK3.62708814
3MAP4K23.40372748
4NEK23.21669032
5BCKDK3.16679077
6TAOK33.02619330
7TRIM283.01627636
8MST42.69596488
9CDC72.68565863
10BUB12.63612584
11TESK22.56602037
12TRIB32.51059051
13OBSCN2.49686586
14EEF2K2.46806631
15PASK2.35208246
16ZAK2.30098925
17PHKG22.22234863
18PHKG12.22234863
19TTK1.95783325
20FLT31.90838906
21PRKD31.87303835
22STK391.86380617
23PLK41.82869088
24BCR1.81306965
25STK101.81181971
26BMPR1B1.77253277
27TLK11.76851186
28PNCK1.76223358
29NUAK11.64853842
30PKN21.63230409
31MAP3K101.56364977
32IRAK41.55611183
33TNIK1.53775817
34PDK41.53038734
35PDK31.53038734
36ADRBK21.51213256
37WEE11.50944746
38MAPK131.49909575
39INSRR1.49539687
40SCYL21.48674389
41ACVR1B1.45370684
42GRK11.43749092
43FGFR41.34947056
44MAP3K81.33253672
45BRSK21.33058663
46MAP3K21.32982644
47MAP3K41.32928465
48EIF2AK11.31849036
49MAPK111.30320690
50EPHA21.29970123
51ERBB31.27734174
52DYRK21.25408418
53EIF2AK31.24743918
54MUSK1.24675850
55OXSR11.23740562
56MAPK151.23410637
57MAP3K121.21017483
58MELK1.17986587
59PIK3CG1.17364900
60CDK191.16812713
61RPS6KB21.16140902
62SIK11.15922581
63FRK1.14200482
64MARK11.06099884
65PRKCE1.03864880
66TSSK61.00989013
67DAPK20.99987859
68CCNB10.98084059
69KSR20.97705756
70CSNK1G10.97664442
71CDK40.97207295
72ERBB40.96925576
73PLK10.95500961
74WNK30.94504750
75ATR0.90668527
76CHEK10.90581124
77BRSK10.90475423
78AURKB0.90196625
79TAF10.89645812
80LIMK10.85201828
81PLK30.83836777
82ERN10.83720987
83STK30.83561346
84DYRK1B0.83371752
85MAP4K10.83269741
86CHEK20.82511178
87BRAF0.80922915
88CDK120.78831728
89AURKA0.76054168
90DYRK30.75958912
91PRKAA10.75603155
92HIPK20.75505767
93TIE10.75449590
94PRKCG0.74801942
95LRRK20.74105732
96PLK20.73758368
97MKNK20.73740419
98MAP2K70.72095639
99MTOR0.71830639
100WNK40.71442979
101SRPK10.71251770
102KDR0.70829298
103MAPKAPK30.70248164
104VRK20.69408036
105AKT30.67106863
106TYK20.65802172
107STK160.65382681
108CDK80.65248497
109ATM0.64192866
110LATS10.63038062
111STK38L0.62840289
112VRK10.62740382
113PAK30.61846911
114MYLK0.60665404
115JAK20.60020669
116FER0.56228687
117STK40.55264038
118MAP3K30.54334959
119PIK3CA0.52663273
120EPHA30.52125906
121PTK60.49966806
122CDK20.49914226
123PTK2B0.49479619
124SIK30.48757816
125PRKCH0.47558700
126TESK10.46512577
127ADRBK10.44390742
128PINK10.43620940
129MAP2K60.42311794
130MKNK10.42193847
131PDK20.41979360
132CDK10.41285128
133CDK60.40859943
134PKN10.40383281
135CSNK1G30.39800763
136CAMK2D0.39680379
137DAPK30.39397327
138CSNK1A10.38954660
139ROCK10.38616735
140PRKCQ0.38399511
141CAMK2A0.38291897
142PBK0.36257949
143ITK0.36082335
144PRKACA0.36018044
145CSNK1G20.35097180
146TEC0.34566047
147PRKCI0.34410931
148MINK10.33916975
149CSNK1A1L0.33629168
150JAK30.33113255
151RPS6KB10.32920012
152ZAP700.32412904
153PRKG10.32327969
154NEK90.32190301
155RPS6KA50.32132407
156CSNK1D0.31056173
157GSK3A0.30743584
158FGFR10.30234443
159TXK0.30050221
160RET0.29768871
161RPS6KA40.27538145
162ALK0.27526719
163PRKDC0.27208805

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049503.39944169
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.02152451
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.84124889
4Nitrogen metabolism_Homo sapiens_hsa009102.77548702
5Selenocompound metabolism_Homo sapiens_hsa004502.49089079
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.48295772
7Oxidative phosphorylation_Homo sapiens_hsa001902.46377666
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.43586485
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.31268408
10Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.30596313
11Tryptophan metabolism_Homo sapiens_hsa003802.23247634
12Fatty acid degradation_Homo sapiens_hsa000712.22664714
13Arginine biosynthesis_Homo sapiens_hsa002202.07789944
14Parkinsons disease_Homo sapiens_hsa050121.98834280
15Basal transcription factors_Homo sapiens_hsa030221.96112789
16Butanoate metabolism_Homo sapiens_hsa006501.90023976
17Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.86897433
18Folate biosynthesis_Homo sapiens_hsa007901.86771409
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.86315635
20Caffeine metabolism_Homo sapiens_hsa002321.83822108
21Propanoate metabolism_Homo sapiens_hsa006401.83191397
22Drug metabolism - other enzymes_Homo sapiens_hsa009831.81121960
23Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.80624869
24Cysteine and methionine metabolism_Homo sapiens_hsa002701.78741067
25Biosynthesis of amino acids_Homo sapiens_hsa012301.74214079
26Protein export_Homo sapiens_hsa030601.73763755
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.71664527
28Fanconi anemia pathway_Homo sapiens_hsa034601.71473659
29DNA replication_Homo sapiens_hsa030301.69035995
30RNA polymerase_Homo sapiens_hsa030201.68968081
31Pyruvate metabolism_Homo sapiens_hsa006201.68944835
32Regulation of autophagy_Homo sapiens_hsa041401.68682672
33Fatty acid metabolism_Homo sapiens_hsa012121.68680733
34Peroxisome_Homo sapiens_hsa041461.64579063
35Phototransduction_Homo sapiens_hsa047441.61029875
36Sulfur metabolism_Homo sapiens_hsa009201.60807981
37Vitamin B6 metabolism_Homo sapiens_hsa007501.60391942
38Cardiac muscle contraction_Homo sapiens_hsa042601.56189082
39One carbon pool by folate_Homo sapiens_hsa006701.54122495
40Carbon metabolism_Homo sapiens_hsa012001.54117919
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.53942291
42Huntingtons disease_Homo sapiens_hsa050161.49920962
43Fatty acid elongation_Homo sapiens_hsa000621.45593092
44Mismatch repair_Homo sapiens_hsa034301.42606346
45Complement and coagulation cascades_Homo sapiens_hsa046101.42289614
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.40804291
47Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.31410780
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.30200133
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.24944262
50Alzheimers disease_Homo sapiens_hsa050101.21820531
51Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.21627471
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.19485452
53Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.15503787
54Cell cycle_Homo sapiens_hsa041101.14159025
55Pentose phosphate pathway_Homo sapiens_hsa000301.12360216
56beta-Alanine metabolism_Homo sapiens_hsa004101.12276456
57Histidine metabolism_Homo sapiens_hsa003401.11469685
58RNA transport_Homo sapiens_hsa030131.09929341
59Pentose and glucuronate interconversions_Homo sapiens_hsa000401.09282610
60Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.09145724
61Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.02815793
62PPAR signaling pathway_Homo sapiens_hsa033201.00841931
63Non-homologous end-joining_Homo sapiens_hsa034500.99872561
64Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.99413483
65Lysine degradation_Homo sapiens_hsa003100.99074726
66ABC transporters_Homo sapiens_hsa020100.98567500
67Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96922717
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.95644533
69Steroid biosynthesis_Homo sapiens_hsa001000.92515686
70Arginine and proline metabolism_Homo sapiens_hsa003300.88698855
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86210510
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86159181
73Bile secretion_Homo sapiens_hsa049760.85325138
74Phenylalanine metabolism_Homo sapiens_hsa003600.84075644
75Base excision repair_Homo sapiens_hsa034100.83293292
76Retinol metabolism_Homo sapiens_hsa008300.83154666
77Starch and sucrose metabolism_Homo sapiens_hsa005000.83144654
78Purine metabolism_Homo sapiens_hsa002300.81940541
79Fat digestion and absorption_Homo sapiens_hsa049750.80201110
80Tyrosine metabolism_Homo sapiens_hsa003500.79333876
81Chemical carcinogenesis_Homo sapiens_hsa052040.78561795
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.78193671
83Olfactory transduction_Homo sapiens_hsa047400.76801842
84Vitamin digestion and absorption_Homo sapiens_hsa049770.72741223
85Insulin secretion_Homo sapiens_hsa049110.69030438
86Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68251813
87Nucleotide excision repair_Homo sapiens_hsa034200.65699310
88Steroid hormone biosynthesis_Homo sapiens_hsa001400.64972537
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.64865136
90Glucagon signaling pathway_Homo sapiens_hsa049220.61312885
91Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.61125534
92Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.59878722
93Proteasome_Homo sapiens_hsa030500.59342509
94Nicotine addiction_Homo sapiens_hsa050330.59129958
95Sulfur relay system_Homo sapiens_hsa041220.57685720
96Fructose and mannose metabolism_Homo sapiens_hsa000510.57101783
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56537788
98Ether lipid metabolism_Homo sapiens_hsa005650.55468946
99Cyanoamino acid metabolism_Homo sapiens_hsa004600.55205128
100Collecting duct acid secretion_Homo sapiens_hsa049660.53829640
101Pyrimidine metabolism_Homo sapiens_hsa002400.53554970
102Taste transduction_Homo sapiens_hsa047420.52299843
103Fatty acid biosynthesis_Homo sapiens_hsa000610.50323064
104Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.49961724
105TGF-beta signaling pathway_Homo sapiens_hsa043500.49646461
106Glycosaminoglycan degradation_Homo sapiens_hsa005310.48641764
107Homologous recombination_Homo sapiens_hsa034400.48236428
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47928391
109Metabolic pathways_Homo sapiens_hsa011000.47478719
110Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.46007067
111Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.45904704
112Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43206496
113Glutathione metabolism_Homo sapiens_hsa004800.42899197
114Hedgehog signaling pathway_Homo sapiens_hsa043400.41826456
115Spliceosome_Homo sapiens_hsa030400.41609972
116Antigen processing and presentation_Homo sapiens_hsa046120.41482326
117Circadian rhythm_Homo sapiens_hsa047100.40591598
118Glycerolipid metabolism_Homo sapiens_hsa005610.39988007
119Insulin resistance_Homo sapiens_hsa049310.36964647
120Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36624518
121Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36442239
122Oocyte meiosis_Homo sapiens_hsa041140.36185511
123RNA degradation_Homo sapiens_hsa030180.35609226
124Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35127396
125N-Glycan biosynthesis_Homo sapiens_hsa005100.33296195
126Galactose metabolism_Homo sapiens_hsa000520.33074423
127AMPK signaling pathway_Homo sapiens_hsa041520.32665963
128Linoleic acid metabolism_Homo sapiens_hsa005910.32142431
129Renin-angiotensin system_Homo sapiens_hsa046140.31311368
130Systemic lupus erythematosus_Homo sapiens_hsa053220.30327168
131Tight junction_Homo sapiens_hsa045300.30213109
132alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28737080
133Staphylococcus aureus infection_Homo sapiens_hsa051500.27240369

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