TPRN

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





Description: This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)7.36423746
2ensheathment of neurons (GO:0007272)6.54488186
3axon ensheathment (GO:0008366)6.54488186
4myelination (GO:0042552)6.43702015
5sperm motility (GO:0030317)6.34178401
6acrosome reaction (GO:0007340)6.29659546
7fatty acid elongation (GO:0030497)6.17555975
8negative regulation of inclusion body assembly (GO:0090084)5.98019639
9multicellular organism reproduction (GO:0032504)5.66291764
10cilium or flagellum-dependent cell motility (GO:0001539)5.40625458
11plasma membrane fusion (GO:0045026)5.32004859
12myelin maintenance (GO:0043217)5.31761453
13piRNA metabolic process (GO:0034587)5.21860349
14sperm-egg recognition (GO:0035036)5.19218551
15axonemal dynein complex assembly (GO:0070286)5.18773086
16sperm capacitation (GO:0048240)5.13979034
17long-chain fatty acid biosynthetic process (GO:0042759)5.12512244
18regulation of bile acid biosynthetic process (GO:0070857)5.08140447
19spermatid development (GO:0007286)4.80757175
20cell wall macromolecule catabolic process (GO:0016998)4.76673545
21cell wall macromolecule metabolic process (GO:0044036)4.76673545
22epithelial cilium movement (GO:0003351)4.70434482
23reproduction (GO:0000003)4.70325255
24NADH metabolic process (GO:0006734)4.69667621
25binding of sperm to zona pellucida (GO:0007339)4.66375327
26cell-cell recognition (GO:0009988)4.66030422
27acrosome assembly (GO:0001675)4.44506029
28creatine metabolic process (GO:0006600)4.27453508
29proline biosynthetic process (GO:0006561)4.22430485
30regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)4.14377217
31regulation of collateral sprouting (GO:0048670)4.10043561
32sodium ion export (GO:0071436)4.08212281
33establishment of mitochondrion localization (GO:0051654)4.07572170
34regulation of inclusion body assembly (GO:0090083)4.07377786
35positive regulation of synapse maturation (GO:0090129)4.06239034
36regulation of cilium movement (GO:0003352)4.05207914
37synaptonemal complex organization (GO:0070193)4.02443209
38GDP-mannose metabolic process (GO:0019673)4.01817880
39oligodendrocyte differentiation (GO:0048709)4.00870824
40single fertilization (GO:0007338)3.98240159
41microtubule polymerization or depolymerization (GO:0031109)3.95595545
42motile cilium assembly (GO:0044458)3.95452819
43protein retention in ER lumen (GO:0006621)3.94911682
44male meiosis (GO:0007140)3.94177310
45epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.91805658
46microtubule severing (GO:0051013)3.89802109
47cholesterol biosynthetic process (GO:0006695)3.87945738
48angiotensin maturation (GO:0002003)3.87576194
49fertilization (GO:0009566)3.87391520
50proline metabolic process (GO:0006560)3.87074027
51cilium movement (GO:0003341)3.84038168
52protein polyglutamylation (GO:0018095)3.83118426
53synaptonemal complex assembly (GO:0007130)3.81914704
54adhesion of symbiont to host cell (GO:0044650)3.80679522
55virion attachment to host cell (GO:0019062)3.80679522
56regulation of cholesterol homeostasis (GO:2000188)3.69544517
57response to methylmercury (GO:0051597)3.68562008
58urea cycle (GO:0000050)3.66907823
59activation of Rac GTPase activity (GO:0032863)3.64094357
60DNA methylation involved in gamete generation (GO:0043046)3.64058270
61negative regulation of neurotransmitter secretion (GO:0046929)3.62955833
62cerebellar granule cell differentiation (GO:0021707)3.62714067
63positive regulation of Cdc42 GTPase activity (GO:0043089)3.62447602
64cell-cell junction maintenance (GO:0045217)3.59125376
65astrocyte development (GO:0014002)3.56924587
66asymmetric protein localization (GO:0008105)3.56908537
67cytoskeletal anchoring at plasma membrane (GO:0007016)3.54418228
68maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.50328825
69negative regulation of macroautophagy (GO:0016242)3.49801449
70regulation of mammary gland epithelial cell proliferation (GO:0033599)3.48191988
71glycerophospholipid catabolic process (GO:0046475)3.47981280
72regulation of cholesterol biosynthetic process (GO:0045540)3.47923799
73sterol biosynthetic process (GO:0016126)3.43100032
74spermatogenesis (GO:0007283)3.42740040
75male gamete generation (GO:0048232)3.41912822
76synaptic vesicle docking involved in exocytosis (GO:0016081)3.41705434
77cellular potassium ion homeostasis (GO:0030007)3.40150160
78urea metabolic process (GO:0019627)3.39518959
79male meiosis I (GO:0007141)3.37501572
80regulation of guanylate cyclase activity (GO:0031282)3.35822070
81regulation of respiratory burst (GO:0060263)3.33007999
82nucleoside diphosphate biosynthetic process (GO:0009133)3.29832104
83negative regulation of neurotransmitter transport (GO:0051589)3.27928806
84regulation of hydrogen peroxide metabolic process (GO:0010310)3.26785689
85apical protein localization (GO:0045176)3.26297245
86intestinal absorption (GO:0050892)3.24649432
87regulation of microtubule-based movement (GO:0060632)3.23851519
88regulation of cholesterol metabolic process (GO:0090181)3.23583266
89glutamine family amino acid biosynthetic process (GO:0009084)3.21912637
90protein palmitoylation (GO:0018345)3.21615254
91glucose 6-phosphate metabolic process (GO:0051156)3.21589268
92negative regulation of protein localization to cell surface (GO:2000009)3.20796065
93regulation of early endosome to late endosome transport (GO:2000641)3.20772655
94gamete generation (GO:0007276)3.20605581
95heme transport (GO:0015886)3.19871775
96amyloid precursor protein metabolic process (GO:0042982)3.19811443
97receptor recycling (GO:0001881)3.19325565
98mitochondrion degradation (GO:0000422)3.17305345
99positive regulation of oligodendrocyte differentiation (GO:0048714)3.16043964
100desmosome organization (GO:0002934)3.15893224
101embryonic retina morphogenesis in camera-type eye (GO:0060059)3.11505567
102phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.11428704
103diacylglycerol metabolic process (GO:0046339)3.10202095
104substantia nigra development (GO:0021762)3.09955199
105photoreceptor cell differentiation (GO:0046530)3.08750274
106eye photoreceptor cell differentiation (GO:0001754)3.08750274
107membrane tubulation (GO:0097320)3.08194713
108negative regulation of cell size (GO:0045792)3.07380707
109nitrogen cycle metabolic process (GO:0071941)3.05914844
110alditol phosphate metabolic process (GO:0052646)3.05591829
111glutamate secretion (GO:0014047)3.05146023
112retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.04595289
113L-amino acid import (GO:0043092)3.04404161
114isoprenoid biosynthetic process (GO:0008299)3.03669149
115apoptotic process involved in morphogenesis (GO:0060561)3.02348922
116long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.02276120
117mannose metabolic process (GO:0006013)3.00403119
118organic cation transport (GO:0015695)2.97687244
119fructose metabolic process (GO:0006000)2.97179134
120CDP-diacylglycerol metabolic process (GO:0046341)2.96972070
121renal system process involved in regulation of blood volume (GO:0001977)2.96119522
122long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.94903675
123regulation of response to osmotic stress (GO:0047484)2.94204016
124regulation of fatty acid beta-oxidation (GO:0031998)2.92989660
125regulation of synapse maturation (GO:0090128)2.92564848
126CDP-diacylglycerol biosynthetic process (GO:0016024)2.92223986
127peptidyl-cysteine modification (GO:0018198)2.92013112
128response to redox state (GO:0051775)2.91086674
129regulation of glucose import in response to insulin stimulus (GO:2001273)2.88310077
130neuronal ion channel clustering (GO:0045161)2.86526355
131meiosis I (GO:0007127)2.86046174
132iron coordination entity transport (GO:1901678)2.85468957
133Golgi transport vesicle coating (GO:0048200)2.85215729
134COPI coating of Golgi vesicle (GO:0048205)2.85215729
135glycosylceramide metabolic process (GO:0006677)2.84822575
136epoxygenase P450 pathway (GO:0019373)2.82736114
137peptidyl-tyrosine autophosphorylation (GO:0038083)2.82300255
138negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.81769177
139phosphate ion transmembrane transport (GO:0035435)2.81189573
140protein localization to endosome (GO:0036010)2.81106287
141maternal placenta development (GO:0001893)2.80964028
142negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.80502988
143negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.80150681
144dopamine receptor signaling pathway (GO:0007212)2.80138246
145activation of MAPKKK activity (GO:0000185)2.79733197
146GPI anchor biosynthetic process (GO:0006506)2.78101615
147glutathione biosynthetic process (GO:0006750)2.77992088
148microtubule depolymerization (GO:0007019)2.77576085
149ribosomal small subunit biogenesis (GO:0042274)2.75244064
150import into cell (GO:0098657)2.74519835
151epithelial cell-cell adhesion (GO:0090136)2.73942473
152germ cell development (GO:0007281)2.73757234
153positive regulation of pseudopodium assembly (GO:0031274)2.71682031
154negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.69268123
155ventricular system development (GO:0021591)2.68202554
156calcium ion-dependent exocytosis (GO:0017156)2.67597449
157cellular process involved in reproduction in multicellular organism (GO:0022412)2.66750798
158regulation of spindle checkpoint (GO:0090231)2.66451988
159regulation of systemic arterial blood pressure (GO:0003073)2.65373406
160positive regulation of fatty acid beta-oxidation (GO:0032000)2.63300146
161cell junction maintenance (GO:0034331)2.61776788
162regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)2.58521139
163endocrine process (GO:0050886)2.58521139
164regulation of systemic arterial blood pressure by hormone (GO:0001990)2.58521139
165adherens junction assembly (GO:0034333)2.57967495
166positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.57812209
167homocysteine metabolic process (GO:0050667)2.57337355
168regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.53847119
169renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.53382062
170semaphorin-plexin signaling pathway (GO:0071526)2.52738040
171regulation of cholesterol esterification (GO:0010872)2.52304185
172actin filament depolymerization (GO:0030042)2.51954919
173adhesion of symbiont to host (GO:0044406)2.51561418
174negative regulation of catenin import into nucleus (GO:0035414)2.50944226
175regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.50319331
176very-low-density lipoprotein particle assembly (GO:0034379)2.49486303
177cellular response to nutrient (GO:0031670)2.48702821
178fat-soluble vitamin biosynthetic process (GO:0042362)2.47980643
179negative regulation of fatty acid transport (GO:2000192)2.47435253
180synaptic vesicle exocytosis (GO:0016079)2.46797792
181branching involved in mammary gland duct morphogenesis (GO:0060444)2.44336956
182glycolipid catabolic process (GO:0019377)2.44135802
183regulation of ARF protein signal transduction (GO:0032012)2.42946266
184glycosphingolipid catabolic process (GO:0046479)2.42270236
185positive regulation of lipid catabolic process (GO:0050996)2.41429017
186purine nucleotide transport (GO:0015865)2.40541438
187phosphate ion transport (GO:0006817)2.37196955
188protein-lipid complex assembly (GO:0065005)2.36952903
189osteoblast development (GO:0002076)2.36380290
190receptor guanylyl cyclase signaling pathway (GO:0007168)2.34936260
191regulation of extracellular matrix disassembly (GO:0010715)2.34795996
192focal adhesion assembly (GO:0048041)2.34717979
193cell-substrate adherens junction assembly (GO:0007045)2.34717979
194axon ensheathment in central nervous system (GO:0032291)10.7282387
195central nervous system myelination (GO:0022010)10.7282387

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse6.65599893
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.89051781
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.54892796
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.38911272
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.36461497
6GATA1_26923725_Chip-Seq_HPCs_Mouse3.32625759
7* LXR_22292898_ChIP-Seq_THP-1_Human3.18517255
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.84210374
9THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.83898071
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.77055796
11STAT6_21828071_ChIP-Seq_BEAS2B_Human2.76644187
12EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.62122533
13RACK7_27058665_Chip-Seq_MCF-7_Human2.49439743
14VDR_21846776_ChIP-Seq_THP-1_Human2.42165332
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.32919853
16ERG_21242973_ChIP-ChIP_JURKAT_Human2.29219931
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.27069176
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.22007699
19KDM2B_26808549_Chip-Seq_SUP-B15_Human2.15835649
20ESR2_21235772_ChIP-Seq_MCF-7_Human2.10706525
21RARG_19884340_ChIP-ChIP_MEFs_Mouse2.06464478
22KDM2B_26808549_Chip-Seq_K562_Human2.04787780
23ELK3_25401928_ChIP-Seq_HUVEC_Human2.04284593
24TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.95783372
25ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.95704700
26CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.93419819
27VDR_22108803_ChIP-Seq_LS180_Human1.90624843
28TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.90145097
29KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.88485769
30EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.84263143
31ZFP281_18757296_ChIP-ChIP_E14_Mouse1.82729447
32MYC_22102868_ChIP-Seq_BL_Human1.82263478
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78492239
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.75327779
35ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.74010903
36EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.73958557
37KDM2B_26808549_Chip-Seq_DND41_Human1.73530057
38CTCF_20526341_ChIP-Seq_ESCs_Human1.73342706
39YY1_22570637_ChIP-Seq_MALME-3M_Human1.72652075
40PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.68268281
41ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.65726804
42UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.65570161
43SA1_27219007_Chip-Seq_ERYTHROID_Human1.64422781
44CREB1_26743006_Chip-Seq_LNCaP_Human1.63327726
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.60421009
46* TCF7_22412390_ChIP-Seq_EML_Mouse1.59875072
47SMC4_20622854_ChIP-Seq_HELA_Human1.59286415
48STAT1_20625510_ChIP-Seq_HELA_Human1.58029203
49CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.56535560
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.55968167
51NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.54672006
52SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.54373705
53CTCF_27219007_Chip-Seq_ERYTHROID_Human1.53585844
54NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.49979055
55BCOR_27268052_Chip-Seq_Bcells_Human1.47562543
56CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.46798455
57NANOG_20526341_ChIP-Seq_ESCs_Human1.42212395
58PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.40889136
59CDX2_20551321_ChIP-Seq_CACO-2_Human1.38980647
60KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.38737164
61KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.38737164
62KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.38737164
63FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37130493
64DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.36281511
65ESR1_15608294_ChIP-ChIP_MCF-7_Human1.32742014
66* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.32486828
67* RUNX1_27514584_Chip-Seq_MCF-7_Human1.32193502
68* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.30692975
69SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.29911433
70EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.28387514
71BCL6_27268052_Chip-Seq_Bcells_Human1.28037448
72PPARA_22158963_ChIP-Seq_LIVER_Mouse1.26982793
73KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.26874627
74NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.24109900
75* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.23937917
76SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.23142487
77SRY_22984422_ChIP-ChIP_TESTIS_Rat1.21786268
78ESR1_21235772_ChIP-Seq_MCF-7_Human1.20723070
79ELF1_20517297_ChIP-Seq_JURKAT_Human1.20570798
80P53_21459846_ChIP-Seq_SAOS-2_Human1.19866714
81ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19187287
82RARA_24833708_ChIP-Seq_LIVER_Mouse1.18424295
83WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18160793
84RXR_22158963_ChIP-Seq_LIVER_Mouse1.18024626
85OCT4_20526341_ChIP-Seq_ESCs_Human1.17489334
86EOMES_21245162_ChIP-Seq_HESCs_Human1.16702441
87JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.16630622
88KLF4_18555785_ChIP-Seq_MESCs_Mouse1.16482024
89P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15645991
90SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.14720089
91ZNF263_19887448_ChIP-Seq_K562_Human1.14435830
92NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.13954354
93TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.13786270
94TP53_22127205_ChIP-Seq_IMR90_Human1.12437028
95KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.12035626
96ATF3_27146783_Chip-Seq_COLON_Human1.10593089
97TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.10130629
98EZH2_22144423_ChIP-Seq_EOC_Human1.10080352
99KDM2B_26808549_Chip-Seq_JURKAT_Human1.09297038
100FOXH1_21741376_ChIP-Seq_ESCs_Human1.09010205
101OCT4_18692474_ChIP-Seq_MEFs_Mouse1.08675941
102* TET1_21490601_ChIP-Seq_MESCs_Mouse1.08456922
103CTCF_27219007_Chip-Seq_Bcells_Human1.07335712
104CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.06676721
105PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06662555
106ZNF274_21170338_ChIP-Seq_K562_Hela1.06238298
107ZFP281_27345836_Chip-Seq_ESCs_Mouse1.06183976
108SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.06096625
109HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.05922729
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05868241
111TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05548122
112KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.05138459
113SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.04467375
114RARB_27405468_Chip-Seq_BRAIN_Mouse1.04465585
115CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.03900840
116LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03734787
117ETS1_21867929_ChIP-Seq_TH2_Mouse1.03585591
118PHF8_20622854_ChIP-Seq_HELA_Human1.03118893
119EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.02835908
120SOX2_22085726_ChIP-Seq_NPCs_Mouse1.02022191
121NANOG_18692474_ChIP-Seq_MEFs_Mouse1.01767372
122P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.01480403
123GATA1_19941827_ChIP-Seq_MEL86_Mouse1.01350120
124SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.00990042
125CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00797413
126STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.00642300
127TBL1_22424771_ChIP-Seq_293T_Human1.00432042
128CTCF_18555785_ChIP-Seq_MESCs_Mouse1.00206898
129BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.00029684
130CREB1_15753290_ChIP-ChIP_HEK293T_Human0.99796750
131GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.99762002
132NANOG_18692474_ChIP-Seq_MESCs_Mouse0.99594461
133* TAL1_26923725_Chip-Seq_HPCs_Mouse0.99254033
134RARB_24833708_ChIP-Seq_LIVER_Mouse0.99028796
135CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.98883589
136NCOR1_26117541_ChIP-Seq_K562_Human0.98806659
137* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.98701138
138CTCF_26484167_Chip-Seq_Bcells_Mouse0.98649401
139RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98300092
140CTCF_21964334_ChIP-Seq_BJAB-B_Human0.98295900
141SA1_27219007_Chip-Seq_Bcells_Human0.98123927
142VDR_24763502_ChIP-Seq_THP-1_Human0.97385314
143MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.97307187
144* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.97003906
145DROSHA_22980978_ChIP-Seq_HELA_Human0.96431348
146CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96251626
147GATA6_25053715_ChIP-Seq_YYC3_Human0.96195315
148EZH2_27294783_Chip-Seq_ESCs_Mouse0.96039272
149ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.95464567
150E2F1_20622854_ChIP-Seq_HELA_Human0.95196823
151PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.95177946
152TET1_21451524_ChIP-Seq_MESCs_Mouse0.94928216
153GATA3_21867929_ChIP-Seq_CD8_Mouse0.94259774
154TP63_22573176_ChIP-Seq_HFKS_Human0.93779013
155SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93615300
156PHF8_20622853_ChIP-Seq_HELA_Human0.93463370
157PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.93319803
158FLI1_21867929_ChIP-Seq_CD8_Mouse0.91978067
159MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.90032502
160OCT4_19829295_ChIP-Seq_ESCs_Human0.89844258
161ER_23166858_ChIP-Seq_MCF-7_Human0.89803749
162ESET_19884257_ChIP-Seq_ESCs_Mouse0.89199297
163* P68_20966046_ChIP-Seq_HELA_Human0.88924397
164GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.88719326
165NFYB_21822215_ChIP-Seq_K562_Human0.88544367
166AR_21909140_ChIP-Seq_LNCAP_Human0.87447564
167SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.86524803
168NCOR_22424771_ChIP-Seq_293T_Human0.86438889
169RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.86206672
170GATA6_21074721_ChIP-Seq_CACO-2_Human0.84435811
171VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.84159275
172FOXP1_21924763_ChIP-Seq_HESCs_Human0.84065837
173FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.83848185
174REST_21632747_ChIP-Seq_MESCs_Mouse0.83776544
175SUZ12_27294783_Chip-Seq_ESCs_Mouse0.83159947
176FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.83132607
177MYC_19915707_ChIP-ChIP_AK7_Human0.82605888
178SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.80971447
179LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.80945074
180KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.80649868
181GF1_26923725_Chip-Seq_HPCs_Mouse0.80499235

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization8.82531858
2MP0000920_abnormal_myelination5.21376407
3MP0010234_abnormal_vibrissa_follicle4.59706190
4MP0009379_abnormal_foot_pigmentation4.04203594
5MP0005360_urolithiasis3.75298199
6MP0003950_abnormal_plasma_membrane3.66621625
7MP0003123_paternal_imprinting3.38990953
8MP0003705_abnormal_hypodermis_morpholog3.23617536
9MP0003698_abnormal_male_reproductive3.16646177
10MP0004885_abnormal_endolymph3.05312757
11MP0003329_amyloid_beta_deposits2.85677390
12MP0000678_abnormal_parathyroid_gland2.83869790
13MP0001929_abnormal_gametogenesis2.82687317
14MP0004264_abnormal_extraembryonic_tissu2.77169024
15MP0004858_abnormal_nervous_system2.67546260
16MP0003879_abnormal_hair_cell2.63120866
17MP0002249_abnormal_larynx_morphology2.58811061
18MP0004742_abnormal_vestibular_system2.47300801
19MP0002139_abnormal_hepatobiliary_system2.42449181
20MP0004270_analgesia2.41377862
21MP0001666_abnormal_nutrient_absorption2.40439603
22MP0003690_abnormal_glial_cell2.38977925
23MP0005451_abnormal_body_composition2.35841317
24MP0000462_abnormal_digestive_system2.34906951
25MP0004043_abnormal_pH_regulation2.17924240
26MP0001485_abnormal_pinna_reflex2.15322095
27MP0008260_abnormal_autophagy2.09780083
28MP0001529_abnormal_vocalization2.08214698
29MP0000566_synostosis2.07539833
30MP0004859_abnormal_synaptic_plasticity2.06545594
31MP0003634_abnormal_glial_cell2.01724468
32MP0008877_abnormal_DNA_methylation1.95281562
33MP0001905_abnormal_dopamine_level1.87480313
34MP0002272_abnormal_nervous_system1.86752846
35MP0002210_abnormal_sex_determination1.81292902
36MP0004142_abnormal_muscle_tone1.80347830
37MP0002161_abnormal_fertility/fecundity1.79729240
38MP0010678_abnormal_skin_adnexa1.79684253
39MP0005666_abnormal_adipose_tissue1.77765114
40MP0003136_yellow_coat_color1.76654468
41MP0001145_abnormal_male_reproductive1.73244049
42MP0003183_abnormal_peptide_metabolism1.70128197
43MP0005171_absent_coat_pigmentation1.70127779
44MP0008057_abnormal_DNA_replication1.68720370
45MP0003632_abnormal_nervous_system1.68229405
46MP0004147_increased_porphyrin_level1.66112667
47MP0005365_abnormal_bile_salt1.65163059
48MP0004019_abnormal_vitamin_homeostasis1.65055547
49MP0002089_abnormal_postnatal_growth/wei1.63773675
50MP0009046_muscle_twitch1.62756125
51MP0001664_abnormal_digestion1.61518948
52MP0002229_neurodegeneration1.60914601
53MP0001486_abnormal_startle_reflex1.56873185
54MP0009840_abnormal_foam_cell1.56531509
55MP0000383_abnormal_hair_follicle1.55979567
56MP0003806_abnormal_nucleotide_metabolis1.51727603
57MP0005076_abnormal_cell_differentiation1.49661255
58MP0001661_extended_life_span1.47494211
59MP0002098_abnormal_vibrissa_morphology1.44364332
60MP0003880_abnormal_central_pattern1.43237438
61MP0000653_abnormal_sex_gland1.41979215
62MP0002653_abnormal_ependyma_morphology1.41410854
63MP0005409_darkened_coat_color1.40642221
64MP0005377_hearing/vestibular/ear_phenot1.37747113
65MP0003878_abnormal_ear_physiology1.37747113
66MP0000477_abnormal_intestine_morphology1.35905587
67MP0004782_abnormal_surfactant_physiolog1.34515577
68MP0000604_amyloidosis1.33430180
69MP0000490_abnormal_crypts_of1.31572796
70MP0003718_maternal_effect1.29618264
71MP0004381_abnormal_hair_follicle1.28157266
72MP0005623_abnormal_meninges_morphology1.28152044
73MP0002822_catalepsy1.26122383
74MP0002064_seizures1.24033365
75MP0005085_abnormal_gallbladder_physiolo1.23266069
76MP0005670_abnormal_white_adipose1.22279185
77MP0000747_muscle_weakness1.20766689
78MP0000681_abnormal_thyroid_gland1.20629607
79MP0001188_hyperpigmentation1.19636505
80MP0000537_abnormal_urethra_morphology1.18011193
81MP0008569_lethality_at_weaning1.17745298
82MP0005375_adipose_tissue_phenotype1.15206157
83MP0000778_abnormal_nervous_system1.12577923
84MP0004134_abnormal_chest_morphology1.10034269
85MP0010155_abnormal_intestine_physiology1.08739060
86MP0000467_abnormal_esophagus_morphology1.06988758
87MP0000955_abnormal_spinal_cord1.05440369
88MP0001727_abnormal_embryo_implantation1.03461025
89MP0003631_nervous_system_phenotype1.02847930
90MP0009672_abnormal_birth_weight1.00559665
91MP0005257_abnormal_intraocular_pressure1.00196151
92MP0001873_stomach_inflammation0.98126049
93MP0001440_abnormal_grooming_behavior0.97511431
94MP0002796_impaired_skin_barrier0.96685073
95MP0009780_abnormal_chondrocyte_physiolo0.95903874
96MP0010352_gastrointestinal_tract_polyps0.95007808
97MP0002734_abnormal_mechanical_nocicepti0.93705723
98MP0005083_abnormal_biliary_tract0.93620007
99MP0001963_abnormal_hearing_physiology0.93298174
100MP0001851_eye_inflammation0.92291599
101MP0003191_abnormal_cellular_cholesterol0.92101089
102MP0003938_abnormal_ear_development0.91419787
103MP0005058_abnormal_lysosome_morphology0.89616137
104MP0002066_abnormal_motor_capabilities/c0.87959130
105MP0008932_abnormal_embryonic_tissue0.87732883
106MP0000538_abnormal_urinary_bladder0.85972276
107MP0009643_abnormal_urine_homeostasis0.85618975
108MP0005408_hypopigmentation0.84929995
109MP0002882_abnormal_neuron_morphology0.84374913
110MP0001730_embryonic_growth_arrest0.84263913
111MP0002118_abnormal_lipid_homeostasis0.82096323
112MP0000003_abnormal_adipose_tissue0.81197923
113MP0000647_abnormal_sebaceous_gland0.79979719
114MP0002752_abnormal_somatic_nervous0.77613264
115MP0003172_abnormal_lysosome_physiology0.76557388
116MP0001765_abnormal_ion_homeostasis0.75909272
117MP0005423_abnormal_somatic_nervous0.75348677
118MP0005332_abnormal_amino_acid0.75270384
119MP0005166_decreased_susceptibility_to0.75021316
120MP0003937_abnormal_limbs/digits/tail_de0.74292946
121MP0005448_abnormal_energy_balance0.74157371
122MP0006082_CNS_inflammation0.73763165
123MP0001502_abnormal_circadian_rhythm0.73398398
124MP0010329_abnormal_lipoprotein_level0.70999878
125MP0003633_abnormal_nervous_system0.70509043
126MP0001663_abnormal_digestive_system0.69799762
127MP0009115_abnormal_fat_cell0.69043839
128MP0000762_abnormal_tongue_morphology0.68384776
129MP0010030_abnormal_orbit_morphology0.67086303
130MP0005075_abnormal_melanosome_morpholog0.66819893
131MP0003866_abnormal_defecation0.66688997
132MP0000534_abnormal_ureter_morphology0.66142796
133MP0002063_abnormal_learning/memory/cond0.66009696
134MP0003693_abnormal_embryo_hatching0.65696693
135MP0000609_abnormal_liver_physiology0.65160912
136MP0002152_abnormal_brain_morphology0.65008373
137MP0005501_abnormal_skin_physiology0.64290018
138MP0003283_abnormal_digestive_organ0.63984007
139MP0005551_abnormal_eye_electrophysiolog0.63779820
140MP0003656_abnormal_erythrocyte_physiolo0.62327918
141MP0001970_abnormal_pain_threshold0.62030901
142MP0004133_heterotaxia0.61782031
143MP0001293_anophthalmia0.60986788
144MP0000377_abnormal_hair_follicle0.60431065
145MP0000470_abnormal_stomach_morphology0.60074804
146MP0004233_abnormal_muscle_weight0.60069738
147MP0003942_abnormal_urinary_system0.59816879
148MP0005195_abnormal_posterior_eye0.59627936
149MP0002160_abnormal_reproductive_system0.58987208
150MP0004947_skin_inflammation0.58638283
151MP0003861_abnormal_nervous_system0.58116715
152MP0009745_abnormal_behavioral_response0.57291164
153MP0005636_abnormal_mineral_homeostasis0.57170776
154MP0004510_myositis0.56259746
155MP0004185_abnormal_adipocyte_glucose0.55892217
156MP0001881_abnormal_mammary_gland0.55639537
157MP0003453_abnormal_keratinocyte_physiol0.54821203
158MP0001348_abnormal_lacrimal_gland0.54688579
159MP0005381_digestive/alimentary_phenotyp0.54069417
160MP0008874_decreased_physiological_sensi0.54002763
161MP0000465_gastrointestinal_hemorrhage0.53390321
162MP0002733_abnormal_thermal_nociception0.53360725
163MP0001346_abnormal_lacrimal_gland0.53217266
164MP0001849_ear_inflammation0.52504986
165MP0003635_abnormal_synaptic_transmissio0.51823641

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.77577198
2Dynein arm defect of respiratory motile cilia (HP:0012255)6.27997085
3Absent/shortened dynein arms (HP:0200106)6.27997085
4Degeneration of the lateral corticospinal tracts (HP:0002314)5.70153388
5Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.70153388
6Neurofibrillary tangles (HP:0002185)5.61132296
7Cerebral hypomyelination (HP:0006808)5.43150460
8Peripheral hypomyelination (HP:0007182)4.81759973
9Sensory axonal neuropathy (HP:0003390)4.69637969
10Abnormality of the corticospinal tract (HP:0002492)4.47903691
11Abnormal respiratory motile cilium physiology (HP:0012261)4.46930819
12Abnormal respiratory motile cilium morphology (HP:0005938)4.37527837
13Abnormal respiratory epithelium morphology (HP:0012253)4.37527837
14Abnormality of glutamine family amino acid metabolism (HP:0010902)4.12916761
15Cerebral inclusion bodies (HP:0100314)4.02732663
16Rhinitis (HP:0012384)3.91821236
17Myokymia (HP:0002411)3.78833490
18Spastic tetraparesis (HP:0001285)3.77466420
19Onion bulb formation (HP:0003383)3.57643080
20Thin bony cortex (HP:0002753)3.49790109
21Abnormal ciliary motility (HP:0012262)3.37241462
22Parakeratosis (HP:0001036)3.36271541
23Hyperparathyroidism (HP:0000843)3.27746388
24CNS hypomyelination (HP:0003429)3.27300929
25Intention tremor (HP:0002080)3.25256337
26Abnormal auditory evoked potentials (HP:0006958)3.21523956
27Infertility (HP:0000789)3.20811602
28Achilles tendon contracture (HP:0001771)3.20125723
29Malnutrition (HP:0004395)3.20063587
30Chronic bronchitis (HP:0004469)3.14961033
31Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.14209532
32Spastic gait (HP:0002064)3.07148975
33Hyperacusis (HP:0010780)3.04256235
34Abdominal distention (HP:0003270)3.01112921
35Abnormality of the Achilles tendon (HP:0005109)2.97198331
36Supranuclear gaze palsy (HP:0000605)2.96233981
37Segmental peripheral demyelination/remyelination (HP:0003481)2.96121262
38Flat acetabular roof (HP:0003180)2.90252125
39Distal upper limb amyotrophy (HP:0007149)2.82941549
40Upper limb amyotrophy (HP:0009129)2.82941549
41Obstructive sleep apnea (HP:0002870)2.79401181
42Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.78083478
43Hemorrhage of the eye (HP:0011885)2.77884844
44Hypoplastic pelvis (HP:0008839)2.75362718
45Dysmetria (HP:0001310)2.74843466
46Male infertility (HP:0003251)2.72422242
47Hydroxyprolinuria (HP:0003080)2.66432348
48Abnormality of proline metabolism (HP:0010907)2.66432348
49Myopathic facies (HP:0002058)2.60877446
50Spastic paraparesis (HP:0002313)2.60345342
51Alacrima (HP:0000522)2.60175821
52Morphological abnormality of the inner ear (HP:0011390)2.55832537
53Congenital ichthyosiform erythroderma (HP:0007431)2.53625635
54Abnormality of the distal phalanx of the thumb (HP:0009617)2.52968976
55Clumsiness (HP:0002312)2.52784329
56Leukodystrophy (HP:0002415)2.52658373
57Abnormality of glycolysis (HP:0004366)2.51900464
58Increased serum pyruvate (HP:0003542)2.51900464
59Ankle clonus (HP:0011448)2.48119946
60Ileus (HP:0002595)2.47294305
61Stridor (HP:0010307)2.43023845
62Widely patent fontanelles and sutures (HP:0004492)2.42489056
63Muscle fiber splitting (HP:0003555)2.41470432
64Germ cell neoplasia (HP:0100728)2.40975398
65Abnormality of monocarboxylic acid metabolism (HP:0010996)2.39953956
66Increased circulating renin level (HP:0000848)2.32835694
67Annular pancreas (HP:0001734)2.32322815
68Split foot (HP:0001839)2.26373006
69Axonal loss (HP:0003447)2.23993570
70Hypomagnesemia (HP:0002917)2.23098645
71Esophageal atresia (HP:0002032)2.22390664
72Nasal polyposis (HP:0100582)2.21979428
73Retinal dysplasia (HP:0007973)2.18334754
74Truncus arteriosus (HP:0001660)2.17105353
75J-shaped sella turcica (HP:0002680)2.16234292
76Hypoplasia of the capital femoral epiphysis (HP:0003090)2.16121783
77Broad face (HP:0000283)2.14797945
78Hyperactive renin-angiotensin system (HP:0000841)2.14565484
79Hyperthyroidism (HP:0000836)2.14425277
80Wide cranial sutures (HP:0010537)2.14274060
81Insomnia (HP:0100785)2.14220380
82Hypophosphatemia (HP:0002148)2.13424146
83Distal lower limb amyotrophy (HP:0008944)2.12557759
84Spinal cord compression (HP:0002176)2.11775188
85Growth hormone excess (HP:0000845)2.10466681
86Ulnar bowing (HP:0003031)2.08278268
87Partial duplication of the phalanx of hand (HP:0009999)2.08074239
88Mildly elevated creatine phosphokinase (HP:0008180)2.05964488
89Metabolic alkalosis (HP:0200114)2.04722201
90Absent septum pellucidum (HP:0001331)2.04375721
91Abnormality of the umbilical cord (HP:0010881)2.03526791
92Nephronophthisis (HP:0000090)2.03305615
93Anteriorly placed anus (HP:0001545)2.03053249
94Vertebral compression fractures (HP:0002953)2.02811157
95Hepatosplenomegaly (HP:0001433)2.02716457
96Clonus (HP:0002169)2.02455681
97Decreased lacrimation (HP:0000633)2.02320640
98Pili torti (HP:0003777)2.01755476
99Hypokalemic alkalosis (HP:0001949)2.00563408
100Hand muscle atrophy (HP:0009130)1.99557172
101Hypercalcemia (HP:0003072)1.98530977
102Morphological abnormality of the pyramidal tract (HP:0002062)1.98288137
103Multiple lipomas (HP:0001012)1.97547769
104Akinesia (HP:0002304)1.97546125
105Bronchomalacia (HP:0002780)1.97200835
106Loss of speech (HP:0002371)1.97141127
107Abnormal drinking behavior (HP:0030082)1.96276709
108Polydipsia (HP:0001959)1.96276709
109Termporal pattern (HP:0011008)1.95991331
110Insidious onset (HP:0003587)1.95991331
111Visual hallucinations (HP:0002367)1.94802151
112Hypercalciuria (HP:0002150)1.93409855
113Flattened epiphyses (HP:0003071)1.93046097
114Delayed epiphyseal ossification (HP:0002663)1.92640698
115Systemic lupus erythematosus (HP:0002725)1.92276498
116Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.91561096
117Absent epiphyses (HP:0010577)1.91561096
118Amyotrophic lateral sclerosis (HP:0007354)1.88717299
119Gout (HP:0001997)1.88528074
120Alkalosis (HP:0001948)1.87575566
121Abnormality of the phalanges of the hallux (HP:0010057)1.86998474
122Decreased motor nerve conduction velocity (HP:0003431)1.86652314
123Peripheral demyelination (HP:0011096)1.86390079
124Bulbar palsy (HP:0001283)1.85867674
125Abnormality of the distal phalanges of the toes (HP:0010182)1.84597127
126Asplenia (HP:0001746)1.84524389
127Gowers sign (HP:0003391)1.84457411
128Scanning speech (HP:0002168)1.84275229
129Abnormality of magnesium homeostasis (HP:0004921)1.84201356
130Bronchiectasis (HP:0002110)1.83777590
131Xanthomatosis (HP:0000991)1.83710463
132Premature skin wrinkling (HP:0100678)1.83610844
133Slow saccadic eye movements (HP:0000514)1.83443632
134Cerebral aneurysm (HP:0004944)1.82875208
135Cerebral hemorrhage (HP:0001342)1.81929287
136Paraparesis (HP:0002385)1.81727451
137Turricephaly (HP:0000262)1.81093155
138Abnormality of the aortic arch (HP:0012303)1.81022700
139Septate vagina (HP:0001153)1.80165262
140Hyporeflexia of lower limbs (HP:0002600)1.79742565
141Nephrolithiasis (HP:0000787)1.79187575
142Postnatal microcephaly (HP:0005484)1.77936231
143Abnormality of the salivary glands (HP:0010286)1.77573531
144Abnormality of the fetal cardiovascular system (HP:0010948)1.77467656
145Abnormal umbilical cord blood vessels (HP:0011403)1.77467656
146Single umbilical artery (HP:0001195)1.77467656
147Abnormality of carpal bone ossification (HP:0006257)1.74811865
148Hypercortisolism (HP:0001578)1.74552403
149Distal lower limb muscle weakness (HP:0009053)1.74199338
150Distal sensory impairment (HP:0002936)1.74138242
151Stenosis of the external auditory canal (HP:0000402)1.73866945
152Broad distal phalanx of finger (HP:0009836)1.73730900
153Bell-shaped thorax (HP:0001591)1.73077800
154Right ventricular cardiomyopathy (HP:0011663)1.72972183
155Disproportionate tall stature (HP:0001519)1.72525030
156Lymphangioma (HP:0100764)1.72453512
157Rectal prolapse (HP:0002035)1.72177207
158Abnormal tarsal ossification (HP:0008369)1.72083185
159Gastrointestinal dysmotility (HP:0002579)1.72005324
160Bone pain (HP:0002653)1.71652630
161Polygenic inheritance (HP:0010982)1.70908001
162Overriding aorta (HP:0002623)1.70474471
163Hypotension (HP:0002615)1.69012077
164Abnormality of renal excretion (HP:0011036)1.68210823
165Villous atrophy (HP:0011473)1.67996126
166Abnormality of small intestinal villus morphology (HP:0011472)1.67996126
167Subcapsular cataract (HP:0000523)1.67858417
168Ragged-red muscle fibers (HP:0003200)1.66322635
169Choroideremia (HP:0001139)1.65656075
170Abnormality of the septum pellucidum (HP:0007375)1.65546693
171Aplasia/Hypoplasia of the spleen (HP:0010451)1.65524760
172Dysmetric saccades (HP:0000641)1.64856338
173Neuronal loss in central nervous system (HP:0002529)1.64583496
174Polyuria (HP:0000103)1.64304932
175Abnormality of saccadic eye movements (HP:0000570)1.64224642
176Long palpebral fissure (HP:0000637)1.63948723
177Lower limb amyotrophy (HP:0007210)1.63341091
178Increased neuronal autofluorescent lipopigment (HP:0002074)1.61695212
179Partial duplication of thumb phalanx (HP:0009944)1.61484331
180Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.61380980
181Abnormal urine output (HP:0012590)1.61362397
182Confusion (HP:0001289)1.61164231
183Athetosis (HP:0002305)1.61038737
184Centrally nucleated skeletal muscle fibers (HP:0003687)1.60427744
185Abnormal hair laboratory examination (HP:0003328)1.60212987
186Abnormality of renin-angiotensin system (HP:0000847)1.60176208
187Easy fatigability (HP:0003388)1.60065301

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK396.56757222
2TRIB34.97421586
3OXSR14.07337968
4ICK3.63265544
5SMG13.59936459
6RIPK13.46492826
7SIK13.40577603
8WNK43.17527817
9TESK13.06649183
10EPHB12.93982850
11PDK32.82456898
12PDK42.82456898
13IRAK32.76602088
14MST1R2.58533399
15ERN12.54901392
16PNCK2.54517926
17PDK22.40339327
18TESK22.35504764
19EEF2K2.29404233
20WNK12.14549159
21MAPKAPK52.12848488
22MET2.08771081
23CDK191.97893854
24PRKD31.88352844
25PKN11.86233443
26LIMK11.85478963
27BCR1.85290354
28NME21.85025632
29MAP3K111.75040061
30LMTK21.70520114
31MST41.68738317
32TYRO31.68001273
33BUB11.60794820
34MAP3K101.60227482
35PBK1.57580792
36CSNK1G31.55324406
37PKN21.53095548
38PRKG21.50559391
39FGFR41.49154868
40FGFR21.47344025
41CSNK1A1L1.43192584
42PTK61.42829733
43CAMKK11.36076044
44NEK61.32269291
45CDK121.21836275
46CLK11.21397426
47UHMK11.17053188
48TAOK21.11503109
49MAPK151.11375127
50CSNK1G11.09357272
51CAMK2B1.07863842
52CSNK1G21.06958588
53SIK21.06592623
54BRAF1.06408260
55ROCK21.03089122
56MAP3K10.99654685
57MAP2K20.96175630
58PAK60.93308208
59PINK10.92391956
60RPS6KA20.91851752
61TTK0.90730116
62TNIK0.89435412
63LATS20.88761517
64PDPK10.88683699
65NTRK10.88021378
66EPHA20.86998776
67TAOK10.85770872
68PAK10.85713239
69MARK20.85257017
70FGR0.84353200
71MTOR0.84005287
72PRKCI0.82175285
73MAPK110.81633915
74CAMK2D0.79401171
75PTK2B0.79041979
76RPS6KB20.78664207
77PAK40.76337185
78PDK10.75983936
79CDK140.75682640
80CAMK2G0.75154530
81EPHA40.74779168
82CDK150.73151550
83ARAF0.70864833
84DYRK20.70654121
85LRRK20.70360262
86PRKD20.69784835
87CDK11A0.69460478
88STK100.68372011
89WEE10.67884524
90ILK0.66614877
91NEK20.65635643
92CDK180.63008108
93CDC42BPA0.62355921
94HIPK20.62138344
95RPS6KC10.61848568
96RPS6KL10.61848568
97DAPK30.59655501
98PDGFRA0.59181653
99NTRK30.58866974
100DAPK10.57886996
101DAPK20.55219299
102PIM20.54771725
103RIPK40.53534731
104PAK20.52611467
105DYRK1B0.52560269
106DMPK0.51915543
107PRKCQ0.49875044
108CAMK1D0.49402986
109BRSK10.48660753
110STK30.48057246
111CSNK1D0.47665640
112DYRK30.47565581
113PRPF4B0.47318973
114ABL20.45485758
115TRPM70.45328676
116TNK20.44285929
117MAP2K60.43687526
118STK160.43053709
119MUSK0.42854237
120AKT20.42401218
121RPS6KA60.42301898
122MAPK120.42079542
123MINK10.40893210
124PRKD10.40563191
125SGK2230.40483210
126SGK4940.40483210
127STK110.40187957
128GSK3A0.39449079
129NME10.38897018
130CDK70.38753332
131EPHB20.38235993
132MAP3K80.38041816
133KSR20.37768808
134PIK3CA0.37668224
135PRKCH0.37434190
136IRAK20.37306073
137MAP2K30.37244523
138GRK60.36574183
139MAP3K20.36494335
140RET0.36315372
141MAP3K130.36252180
142CHEK20.36242375
143BMX0.35277488
144RPS6KA50.34959142
145CSNK1E0.34706542
146AURKA0.34422527
147CSNK1A10.33827303
148CDK50.31877432
149PAK30.31016183
150CHEK10.30618106
151CAMK2A0.28052881
152BMPR1B0.28008575
153MELK0.27136728
154ALK0.26727242
155CSK0.26515379
156ERBB40.24970400
157PRKACB0.23851436
158AKT30.23798752
159FYN0.23356985
160DDR20.22130706
161STK40.20870903
162PTK20.19302147
163CSF1R0.17854064
164STK380.17117203
165MAP3K90.16617838
166PRKG10.16122916
167MARK10.15857506

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.50264045
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009005.42676515
3Steroid biosynthesis_Homo sapiens_hsa001003.65781976
4Fatty acid elongation_Homo sapiens_hsa000623.49683089
5Ether lipid metabolism_Homo sapiens_hsa005653.32860737
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.89793283
7Linoleic acid metabolism_Homo sapiens_hsa005912.65491212
8Arginine biosynthesis_Homo sapiens_hsa002202.54777965
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.49379433
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.22798031
11Sphingolipid metabolism_Homo sapiens_hsa006002.20052606
122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.12907087
13Folate biosynthesis_Homo sapiens_hsa007902.03865394
14Glutathione metabolism_Homo sapiens_hsa004801.95007375
15Mineral absorption_Homo sapiens_hsa049781.92177616
16Glycerophospholipid metabolism_Homo sapiens_hsa005641.84736096
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.83622367
18Other glycan degradation_Homo sapiens_hsa005111.79962903
19Galactose metabolism_Homo sapiens_hsa000521.76893035
20Bile secretion_Homo sapiens_hsa049761.73687632
21Fatty acid biosynthesis_Homo sapiens_hsa000611.66683413
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.63903102
23Basal transcription factors_Homo sapiens_hsa030221.62762297
24Vitamin digestion and absorption_Homo sapiens_hsa049771.51109022
25Synaptic vesicle cycle_Homo sapiens_hsa047211.47387194
26Sulfur metabolism_Homo sapiens_hsa009201.46329535
27RNA polymerase_Homo sapiens_hsa030201.45604830
28Arginine and proline metabolism_Homo sapiens_hsa003301.35659709
29Arachidonic acid metabolism_Homo sapiens_hsa005901.34768657
30Notch signaling pathway_Homo sapiens_hsa043301.29628617
31Oxidative phosphorylation_Homo sapiens_hsa001901.28321468
32Pentose phosphate pathway_Homo sapiens_hsa000301.27881511
33Dorso-ventral axis formation_Homo sapiens_hsa043201.24588772
34VEGF signaling pathway_Homo sapiens_hsa043701.24386271
35Histidine metabolism_Homo sapiens_hsa003401.23352403
36Tight junction_Homo sapiens_hsa045301.19856271
37Prion diseases_Homo sapiens_hsa050201.19128263
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.18695695
39Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.13681195
40Long-term potentiation_Homo sapiens_hsa047201.08097807
41Collecting duct acid secretion_Homo sapiens_hsa049661.06770666
42Endocytosis_Homo sapiens_hsa041441.06399396
43Central carbon metabolism in cancer_Homo sapiens_hsa052301.05547024
44Phenylalanine metabolism_Homo sapiens_hsa003601.05544738
45PPAR signaling pathway_Homo sapiens_hsa033201.04960509
46Glycerolipid metabolism_Homo sapiens_hsa005611.02351694
47AMPK signaling pathway_Homo sapiens_hsa041521.02288888
48Axon guidance_Homo sapiens_hsa043600.99895431
49Pyruvate metabolism_Homo sapiens_hsa006200.99832692
50Pentose and glucuronate interconversions_Homo sapiens_hsa000400.99510202
51Fat digestion and absorption_Homo sapiens_hsa049750.97364271
52Renal cell carcinoma_Homo sapiens_hsa052110.94597992
53Starch and sucrose metabolism_Homo sapiens_hsa005000.93450974
54Bladder cancer_Homo sapiens_hsa052190.91319507
55GnRH signaling pathway_Homo sapiens_hsa049120.91198385
56Drug metabolism - other enzymes_Homo sapiens_hsa009830.87103695
57Huntingtons disease_Homo sapiens_hsa050160.85990732
58Non-small cell lung cancer_Homo sapiens_hsa052230.85535589
59Insulin signaling pathway_Homo sapiens_hsa049100.84825211
60Cysteine and methionine metabolism_Homo sapiens_hsa002700.83785632
61Propanoate metabolism_Homo sapiens_hsa006400.82345171
62Aldosterone synthesis and secretion_Homo sapiens_hsa049250.80034643
63ErbB signaling pathway_Homo sapiens_hsa040120.79550974
64Adipocytokine signaling pathway_Homo sapiens_hsa049200.79487043
65Carbon metabolism_Homo sapiens_hsa012000.78899073
66Butanoate metabolism_Homo sapiens_hsa006500.78497718
67Protein export_Homo sapiens_hsa030600.77993532
68Regulation of autophagy_Homo sapiens_hsa041400.76883378
69Hedgehog signaling pathway_Homo sapiens_hsa043400.76170379
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.76005370
71Chronic myeloid leukemia_Homo sapiens_hsa052200.75236277
72Thyroid hormone synthesis_Homo sapiens_hsa049180.75155082
73Endometrial cancer_Homo sapiens_hsa052130.75123643
74Parkinsons disease_Homo sapiens_hsa050120.74660075
75Alzheimers disease_Homo sapiens_hsa050100.74650136
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.74489554
77Thyroid cancer_Homo sapiens_hsa052160.74295237
78Glioma_Homo sapiens_hsa052140.73155113
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.72818298
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72502564
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72252508
82Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70236810
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.69783501
84Renin-angiotensin system_Homo sapiens_hsa046140.68805417
85Estrogen signaling pathway_Homo sapiens_hsa049150.68434045
86Metabolic pathways_Homo sapiens_hsa011000.68206549
87Vibrio cholerae infection_Homo sapiens_hsa051100.68097440
88Cardiac muscle contraction_Homo sapiens_hsa042600.66939040
89Insulin secretion_Homo sapiens_hsa049110.66783998
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.66531775
91Neurotrophin signaling pathway_Homo sapiens_hsa047220.65391224
92Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.65156967
93Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65114220
94Glucagon signaling pathway_Homo sapiens_hsa049220.64504329
95mTOR signaling pathway_Homo sapiens_hsa041500.64117410
96Purine metabolism_Homo sapiens_hsa002300.63724316
97Oocyte meiosis_Homo sapiens_hsa041140.62736904
98Insulin resistance_Homo sapiens_hsa049310.58276611
99Lysosome_Homo sapiens_hsa041420.57083740
100Amphetamine addiction_Homo sapiens_hsa050310.56906889
101Proteasome_Homo sapiens_hsa030500.56167926
102Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55725982
103Fatty acid degradation_Homo sapiens_hsa000710.55725320
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55681985
105Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55410316
106Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.54471313
107Cocaine addiction_Homo sapiens_hsa050300.54131266
108Acute myeloid leukemia_Homo sapiens_hsa052210.53827693
109Fatty acid metabolism_Homo sapiens_hsa012120.53600310
110Glutamatergic synapse_Homo sapiens_hsa047240.53310528
111Cholinergic synapse_Homo sapiens_hsa047250.52842477
112Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.51726126
113Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51406243
114Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.50565331
115Long-term depression_Homo sapiens_hsa047300.50326725
116Inositol phosphate metabolism_Homo sapiens_hsa005620.49738860
117Phospholipase D signaling pathway_Homo sapiens_hsa040720.49304202
118Melanogenesis_Homo sapiens_hsa049160.49194193
119Nitrogen metabolism_Homo sapiens_hsa009100.48984922
120Fructose and mannose metabolism_Homo sapiens_hsa000510.48922643
121Hepatitis C_Homo sapiens_hsa051600.47585708
122RNA transport_Homo sapiens_hsa030130.46981647
123Pancreatic secretion_Homo sapiens_hsa049720.45708247
124Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.45493278
125Gap junction_Homo sapiens_hsa045400.42872858
126Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42650863
127Retinol metabolism_Homo sapiens_hsa008300.40779824
128Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40734164
129Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.40339705
130Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40197474
131Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40195298
132Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39379123
133Ribosome_Homo sapiens_hsa030100.37612483
134Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.36448109
135SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35837607
136Dopaminergic synapse_Homo sapiens_hsa047280.35785148
137Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35670253
138Protein digestion and absorption_Homo sapiens_hsa049740.35383008
139Tyrosine metabolism_Homo sapiens_hsa003500.34545727
140Sulfur relay system_Homo sapiens_hsa041220.33982287
141Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.32764759
142Gastric acid secretion_Homo sapiens_hsa049710.31244022
143Choline metabolism in cancer_Homo sapiens_hsa052310.30422744
144Glycosaminoglycan degradation_Homo sapiens_hsa005310.30274688
145Pyrimidine metabolism_Homo sapiens_hsa002400.29252011
146Vascular smooth muscle contraction_Homo sapiens_hsa042700.28667168
147Rheumatoid arthritis_Homo sapiens_hsa053230.27776052
148Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27242337
149Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26909726
150Cyanoamino acid metabolism_Homo sapiens_hsa004600.26592534
151Shigellosis_Homo sapiens_hsa051310.25371636
152Spliceosome_Homo sapiens_hsa030400.24722050
153Salivary secretion_Homo sapiens_hsa049700.24258444
154Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23312791
155mRNA surveillance pathway_Homo sapiens_hsa030150.22011996
156Fanconi anemia pathway_Homo sapiens_hsa034600.20996317
157Salmonella infection_Homo sapiens_hsa051320.20170480
158Ras signaling pathway_Homo sapiens_hsa040140.19325472
159Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.19224112
160Biosynthesis of amino acids_Homo sapiens_hsa012300.19107527

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