TECPR2

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 tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.60958076
2auditory behavior (GO:0031223)5.18085996
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.08276921
4synaptic vesicle maturation (GO:0016188)4.84791344
5locomotory exploration behavior (GO:0035641)4.80576605
6vocalization behavior (GO:0071625)4.71629303
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.71125466
8positive regulation by symbiont of host defense response (GO:0052509)4.67104864
9modulation by symbiont of host defense response (GO:0052031)4.67104864
10modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.67104864
11modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.67104864
12positive regulation by organism of defense response of other organism involved in symbiotic interact4.67104864
13modulation by symbiont of host immune response (GO:0052553)4.67104864
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.64158011
15synaptic vesicle exocytosis (GO:0016079)4.56933043
16glutamate secretion (GO:0014047)4.56210229
17negative regulation of cell killing (GO:0031342)4.55949976
18negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.55949976
19neuron cell-cell adhesion (GO:0007158)4.44366416
20detection of molecule of bacterial origin (GO:0032490)4.37446480
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.37274678
22regulation of synaptic vesicle exocytosis (GO:2000300)4.36643269
23protein localization to synapse (GO:0035418)4.35134224
24antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.30523261
25synaptic vesicle docking involved in exocytosis (GO:0016081)4.30280590
26regulation of glutamate receptor signaling pathway (GO:1900449)4.26189810
27neuronal action potential propagation (GO:0019227)4.23600524
28leukocyte migration involved in inflammatory response (GO:0002523)4.17977656
29response to auditory stimulus (GO:0010996)4.17246472
30mechanosensory behavior (GO:0007638)4.14299078
31startle response (GO:0001964)4.11443422
32macrophage activation involved in immune response (GO:0002281)3.96675592
33glutamate receptor signaling pathway (GO:0007215)3.94547148
34synaptic transmission, glutamatergic (GO:0035249)3.92155662
35regulation of neuronal synaptic plasticity (GO:0048168)3.90753489
36negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.90494025
37layer formation in cerebral cortex (GO:0021819)3.87999486
38dendritic spine morphogenesis (GO:0060997)3.84755686
39regulation of synaptic vesicle transport (GO:1902803)3.83808968
40transmission of nerve impulse (GO:0019226)3.80238467
41innervation (GO:0060384)3.79385949
42regulation of long-term neuronal synaptic plasticity (GO:0048169)3.74567355
43neutrophil activation involved in immune response (GO:0002283)3.74022526
44positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.73875668
45presynaptic membrane assembly (GO:0097105)3.71633688
46regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.70677062
47neurotransmitter secretion (GO:0007269)3.69968221
48neuron-neuron synaptic transmission (GO:0007270)3.68648412
49L-amino acid import (GO:0043092)3.65937055
50detection of other organism (GO:0098543)3.59682136
51presynaptic membrane organization (GO:0097090)3.58460819
52detection of external biotic stimulus (GO:0098581)3.58170109
53exploration behavior (GO:0035640)3.56947850
54cellular extravasation (GO:0045123)3.52280366
55neuron recognition (GO:0008038)3.50970774
56neurotransmitter-gated ion channel clustering (GO:0072578)3.50178852
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.49445735
58positive regulation of gamma-delta T cell activation (GO:0046645)3.49090220
59regulation of excitatory postsynaptic membrane potential (GO:0060079)3.48988350
60synaptic vesicle endocytosis (GO:0048488)3.47610349
61membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46054982
62microglial cell activation (GO:0001774)3.45449596
63antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.44870310
64negative regulation of synaptic transmission, GABAergic (GO:0032229)3.43783351
65positive regulation of membrane potential (GO:0045838)3.41875166
66gamma-aminobutyric acid signaling pathway (GO:0007214)3.41771287
67gamma-aminobutyric acid transport (GO:0015812)3.40446845
68long-term memory (GO:0007616)3.36547792
69neuronal ion channel clustering (GO:0045161)3.35370242
70regulation of postsynaptic membrane potential (GO:0060078)3.33885816
71regulation of synapse structural plasticity (GO:0051823)3.32946264
72axonal fasciculation (GO:0007413)3.27970765
73regulation of dendritic spine morphogenesis (GO:0061001)3.27671893
74central nervous system myelination (GO:0022010)3.24064861
75axon ensheathment in central nervous system (GO:0032291)3.24064861
76regulation of synaptic plasticity (GO:0048167)3.23580571
77proline transport (GO:0015824)3.21805478
78macrophage activation (GO:0042116)3.20750993
79synapse assembly (GO:0007416)3.20069357
80neutrophil activation (GO:0042119)3.19944249
81regulation of neurotransmitter secretion (GO:0046928)3.19800692
82antigen processing and presentation of endogenous antigen (GO:0019883)3.18631952
83neurotransmitter transport (GO:0006836)3.17512468
84response to host immune response (GO:0052572)3.17274011
85response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.17274011
86cerebellar Purkinje cell differentiation (GO:0021702)3.16301833
87detection of bacterium (GO:0016045)3.15551148
88regulation of interferon-beta biosynthetic process (GO:0045357)3.15179422
89long-term synaptic potentiation (GO:0060291)3.12401723
90response to peptidoglycan (GO:0032494)3.11325478
91regulation of B cell receptor signaling pathway (GO:0050855)3.09957175
92neuromuscular process controlling balance (GO:0050885)3.09299397
93G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08219716
94regulation of T-helper 2 cell differentiation (GO:0045628)3.07963529
95detection of biotic stimulus (GO:0009595)3.07663939
96response to host (GO:0075136)3.06233521
97response to host defenses (GO:0052200)3.06233521
98response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.06233521
99cellular potassium ion homeostasis (GO:0030007)3.05996857
100dendrite morphogenesis (GO:0048813)3.05174171
101negative regulation of neurotransmitter transport (GO:0051589)3.04389815
102membrane hyperpolarization (GO:0060081)3.03902859
103regulation of synaptic transmission, glutamatergic (GO:0051966)3.03295883
104cerebellar granule cell differentiation (GO:0021707)3.02121819
105regulation of vesicle fusion (GO:0031338)3.01733102
106synapse organization (GO:0050808)3.01598681
107dendritic spine organization (GO:0097061)3.01167216
108neutrophil mediated immunity (GO:0002446)3.00625300
109glycine transport (GO:0015816)3.00313273
110leukocyte aggregation (GO:0070486)3.00133561
111adult walking behavior (GO:0007628)2.99279955
112positive regulation of receptor recycling (GO:0001921)2.97352725
113cochlea development (GO:0090102)2.96611395
114membrane depolarization during action potential (GO:0086010)2.95740314
115negative regulation of lymphocyte mediated immunity (GO:0002707)2.95717486
116negative regulation of erythrocyte differentiation (GO:0045647)2.95476569
117mating behavior (GO:0007617)2.95132565
118postsynaptic membrane organization (GO:0001941)2.93681514
119membrane depolarization (GO:0051899)2.92455221
120negative regulation of neurotransmitter secretion (GO:0046929)2.91858898
121vesicle transport along microtubule (GO:0047496)2.91477423
122positive regulation of synapse maturation (GO:0090129)2.91256714
123regulation of neurotransmitter transport (GO:0051588)2.91130413
124neuromuscular process (GO:0050905)2.89748759
125antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.89469218
126positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.89238219
127nerve growth factor signaling pathway (GO:0038180)2.86242820
128regulation of dendritic spine development (GO:0060998)2.85533372
129regulation of voltage-gated calcium channel activity (GO:1901385)2.85498845
130regulation of myeloid leukocyte mediated immunity (GO:0002886)2.84610288
131granulocyte activation (GO:0036230)2.84386674
132regulation of mast cell degranulation (GO:0043304)2.83685429
133positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.83181231
134regulation of neurotransmitter levels (GO:0001505)2.83027107
135regulation of leukocyte degranulation (GO:0043300)2.82109590
136positive regulation of cellular amide metabolic process (GO:0034250)2.82069181
137regulation of macrophage cytokine production (GO:0010935)2.81718632
138learning (GO:0007612)2.80564982
139response to interleukin-15 (GO:0070672)2.80446195
140amino acid import (GO:0043090)2.77580413
141positive regulation of neurotransmitter secretion (GO:0001956)2.77285465
142cell migration in hindbrain (GO:0021535)2.77245360
143negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.76658997
144regulation of platelet aggregation (GO:0090330)2.76371131
145negative regulation of interleukin-12 production (GO:0032695)2.76188010
146suckling behavior (GO:0001967)2.75425811
147behavioral response to cocaine (GO:0048148)2.74106165
148regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.73106895
149activation of protein kinase A activity (GO:0034199)2.72567221
150regulation of gamma-delta T cell activation (GO:0046643)2.72118321
151positive regulation of Rap GTPase activity (GO:0032854)2.72043974
152regulation of regulated secretory pathway (GO:1903305)2.71333972
153regulation of ARF protein signal transduction (GO:0032012)2.70042977
154positive regulation of synaptic transmission, GABAergic (GO:0032230)2.69913888
155regulation of synaptic transmission (GO:0050804)2.69498229
156negative regulation of leukocyte mediated immunity (GO:0002704)2.69235224
157antigen processing and presentation via MHC class Ib (GO:0002475)2.67636623
158regulation of amyloid precursor protein catabolic process (GO:1902991)2.66426438
159regulation of mast cell activation involved in immune response (GO:0033006)2.63708708
160myeloid cell activation involved in immune response (GO:0002275)2.63593819
161germinal center formation (GO:0002467)2.63150657
162positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.61512593
163myeloid leukocyte mediated immunity (GO:0002444)2.58600933
164positive regulation of mast cell activation (GO:0033005)2.53704849
165negative regulation of toll-like receptor signaling pathway (GO:0034122)2.52257839
166positive regulation of macrophage cytokine production (GO:0060907)2.51830527
167production of molecular mediator involved in inflammatory response (GO:0002532)2.49870148
168respiratory burst (GO:0045730)2.45789314
169negative regulation of type 2 immune response (GO:0002829)2.45451938
170cellular response to interleukin-15 (GO:0071350)2.43668161
171signal complex assembly (GO:0007172)2.41155189
172negative regulation of inclusion body assembly (GO:0090084)2.40263229
173regulation of Rap GTPase activity (GO:0032317)2.39958782
174regulation of beta-amyloid formation (GO:1902003)2.39605384
175protein localization to endosome (GO:0036010)2.39297340
176cellular response to epinephrine stimulus (GO:0071872)2.39100068
177negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.38842234
178negative regulation of T-helper cell differentiation (GO:0045623)2.38842234
179regulation of gamma-delta T cell differentiation (GO:0045586)2.38626382
180regulation of ARF GTPase activity (GO:0032312)2.37393682
181positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.29300535
182positive regulation of toll-like receptor signaling pathway (GO:0034123)2.27953466
183response to muramyl dipeptide (GO:0032495)2.27786341
184regulation of mast cell activation (GO:0033003)2.27483813
185lipopolysaccharide-mediated signaling pathway (GO:0031663)2.24923611
186actin filament polymerization (GO:0030041)2.24149031
187regulation of cellular amide metabolic process (GO:0034248)2.23365700
188negative regulation of T cell mediated immunity (GO:0002710)2.22407067
189B cell receptor signaling pathway (GO:0050853)2.21580676
190positive regulation of regulated secretory pathway (GO:1903307)2.19042647
191regulation of toll-like receptor signaling pathway (GO:0034121)2.18180679
192regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.17431342
193response to type I interferon (GO:0034340)2.17193609
194cellular response to type I interferon (GO:0071357)2.16749591
195type I interferon signaling pathway (GO:0060337)2.16749591

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.84374707
2GBX2_23144817_ChIP-Seq_PC3_Human3.80709793
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90826578
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86869974
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.77927808
6BP1_19119308_ChIP-ChIP_Hs578T_Human2.70035354
7STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.49466596
8DROSHA_22980978_ChIP-Seq_HELA_Human2.45845539
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44275045
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44275045
11* REST_21632747_ChIP-Seq_MESCs_Mouse2.40101183
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.39206785
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37149974
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.36128710
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.35367333
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.32274665
17MTF2_20144788_ChIP-Seq_MESCs_Mouse2.30447547
18SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28444886
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.27491827
20KDM2B_26808549_Chip-Seq_SUP-B15_Human2.25883779
21SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.25397385
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.23637864
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.17565946
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.13933502
25MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.06883170
26EZH2_27294783_Chip-Seq_ESCs_Mouse2.05274203
27SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03853822
28NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.02493733
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02170889
30SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.01791163
31IRF8_22096565_ChIP-ChIP_GC-B_Human1.93814560
32IRF8_21731497_ChIP-ChIP_J774_Mouse1.90949376
33SPI1_23127762_ChIP-Seq_K562_Human1.90877290
34TAF15_26573619_Chip-Seq_HEK293_Human1.87455267
35IRF8_27001747_Chip-Seq_BMDM_Mouse1.87261168
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87246462
37REST_18959480_ChIP-ChIP_MESCs_Mouse1.87025402
38AR_21572438_ChIP-Seq_LNCaP_Human1.86898315
39MYB_21317192_ChIP-Seq_ERMYB_Mouse1.85826371
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.84577137
41* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.84217852
42CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81199025
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.77436821
44TCF7_22412390_ChIP-Seq_EML_Mouse1.74776166
45RUNX_20019798_ChIP-Seq_JUKART_Human1.72837380
46KDM2B_26808549_Chip-Seq_DND41_Human1.72445093
47SMAD4_21799915_ChIP-Seq_A2780_Human1.70136382
48NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.69629135
49VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.67465102
50GATA2_21666600_ChIP-Seq_HMVEC_Human1.67342294
51GATA1_19941827_ChIP-Seq_MEL_Mouse1.67199211
52CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67021192
53PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.64131764
54VDR_24763502_ChIP-Seq_THP-1_Human1.63464605
55CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.63091072
56Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.60175753
57STAT6_21828071_ChIP-Seq_BEAS2B_Human1.58298275
58ESR2_21235772_ChIP-Seq_MCF-7_Human1.56432389
59SCL_19346495_ChIP-Seq_HPC-7_Human1.54939277
60* KDM2B_26808549_Chip-Seq_K562_Human1.54127764
61IKZF1_21737484_ChIP-ChIP_HCT116_Human1.54102504
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.50306265
63RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.48018145
64VDR_21846776_ChIP-Seq_THP-1_Human1.47102239
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46768671
66FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.46657001
67KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.45613061
68EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.45186902
69E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.45028370
70P300_19829295_ChIP-Seq_ESCs_Human1.44892112
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43331340
72LXR_22292898_ChIP-Seq_THP-1_Human1.42380406
73GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.40389396
74SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40239111
75STAT3_23295773_ChIP-Seq_U87_Human1.39893488
76RUNX1_22412390_ChIP-Seq_EML_Mouse1.39767462
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.38827378
78SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.38543818
79TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.38513099
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.37938088
81RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37159607
82SOX2_21211035_ChIP-Seq_LN229_Gbm1.36831445
83GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.36801637
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.35981274
85ELK3_25401928_ChIP-Seq_HUVEC_Human1.35650699
86KDM2B_26808549_Chip-Seq_JURKAT_Human1.35209425
87VDR_24787735_ChIP-Seq_THP-1_Human1.33701288
88CBX2_27304074_Chip-Seq_ESCs_Mouse1.32817002
89ESR1_20079471_ChIP-ChIP_T-47D_Human1.32293234
90TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.31583936
91STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.31488445
92SMAD_19615063_ChIP-ChIP_OVARY_Human1.30489446
93CDX2_19796622_ChIP-Seq_MESCs_Mouse1.29460663
94BRD4_27068464_Chip-Seq_AML-cells_Mouse1.27687600
95ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25811336
96AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25487973
97GATA1_19941826_ChIP-Seq_K562_Human1.24707044
98POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24043787
99AR_19668381_ChIP-Seq_PC3_Human1.23804432
100TCF4_23295773_ChIP-Seq_U87_Human1.23341998
101IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.23303882
102PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22695439
103AHR_22903824_ChIP-Seq_MCF-7_Human1.21003816
104ARNT_22903824_ChIP-Seq_MCF-7_Human1.20841255
105KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.20178105
106NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19904550
107P53_22127205_ChIP-Seq_FIBROBLAST_Human1.19874237
108ERG_21242973_ChIP-ChIP_JURKAT_Human1.19409324
109RARG_19884340_ChIP-ChIP_MEFs_Mouse1.19393470
110NR3C1_21868756_ChIP-Seq_MCF10A_Human1.19183401
111GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19011949
112WT1_25993318_ChIP-Seq_PODOCYTE_Human1.18986287
113TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18878390
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18216995
115TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17343056
116AR_25329375_ChIP-Seq_VCAP_Human1.17331278
117TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16950381
118MAF_26560356_Chip-Seq_TH1_Human1.16363675
119NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.15679148
120BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14256743
121ZNF274_21170338_ChIP-Seq_K562_Hela1.14153615
122EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13674654
123TP53_16413492_ChIP-PET_HCT116_Human1.13368964
124RING1B_27294783_Chip-Seq_ESCs_Mouse1.13290390
125EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.12620165
126ER_23166858_ChIP-Seq_MCF-7_Human1.11982223
127FUS_26573619_Chip-Seq_HEK293_Human1.11106544
128PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08475199
129TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07785845
130DNAJC2_21179169_ChIP-ChIP_NT2_Human1.07214674
131LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.06734078
132MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06706312
133TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06505278
134RNF2_27304074_Chip-Seq_NSC_Mouse1.05674904
135RUNX2_22187159_ChIP-Seq_PCA_Human1.05404230
136UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04308904
137UTX_26944678_Chip-Seq_JUKART_Human1.03772823
138TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02996381
139MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.02871120
140TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02509115
141RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.02295497
142ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02266836
143PRDM14_20953172_ChIP-Seq_ESCs_Human1.01903404
144GATA1_19941827_ChIP-Seq_MEL86_Mouse1.00957848
145LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.00627702
146YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00304133
147BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00095939
148GATA2_19941826_ChIP-Seq_K562_Human0.99720149
149NANOG_18555785_Chip-Seq_ESCs_Mouse0.99712373
150RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99375130
151RING1B_27294783_Chip-Seq_NPCs_Mouse0.99242765
152SMAD3_21741376_ChIP-Seq_HESCs_Human0.98846020
153PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.98065436
154ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97876337
155SMAD3_21741376_ChIP-Seq_ESCs_Human0.97169618
156WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96933549
157ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96546496
158STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.96235350
159TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95766573
160POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95766573
161SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95737424
162DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.95377399
163E2F1_18555785_Chip-Seq_ESCs_Mouse0.94329969
164RACK7_27058665_Chip-Seq_MCF-7_Human0.94271714
165RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93785888
166TBX20_22328084_ChIP-Seq_HEART_Mouse0.93429144
167TBX20_22080862_ChIP-Seq_HEART_Mouse0.93429144
168MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93414926
169SMAD4_21741376_ChIP-Seq_HESCs_Human0.92533545
170CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91404079
171CMYC_18555785_Chip-Seq_ESCs_Mouse0.90746943
172JUN_21703547_ChIP-Seq_K562_Human0.89764677
173CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89095977
174SMC4_20622854_ChIP-Seq_HELA_Human0.88477748
175SOX9_26525672_Chip-Seq_HEART_Mouse0.88123805
176TP53_18474530_ChIP-ChIP_U2OS_Human0.86915120
177GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.86403537
178CTCF_27219007_Chip-Seq_ERYTHROID_Human0.85553458
179NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.84310162
180SPI1_23547873_ChIP-Seq_NB4_Human0.83607879
181PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83193550
182GATA1_22025678_ChIP-Seq_K562_Human0.82465620
183P300_27058665_Chip-Seq_ZR-75-30cells_Human0.82237119

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.44367170
2MP0003724_increased_susceptibility_to4.90179114
3MP0003880_abnormal_central_pattern4.74039550
4MP0003635_abnormal_synaptic_transmissio3.87262120
5MP0004270_analgesia3.74223418
6MP0003303_peritoneal_inflammation3.63324743
7MP0009745_abnormal_behavioral_response3.25056765
8MP0002063_abnormal_learning/memory/cond3.14576304
9MP0002064_seizures3.12997654
10MP0003436_decreased_susceptibility_to3.12981689
11MP0001968_abnormal_touch/_nociception3.08850672
12MP0009046_muscle_twitch3.06011582
13MP0008260_abnormal_autophagy2.91381392
14MP0001486_abnormal_startle_reflex2.87747264
15MP0002736_abnormal_nociception_after2.75965489
16MP0002272_abnormal_nervous_system2.67529179
17MP0002822_catalepsy2.66421099
18MP0002572_abnormal_emotion/affect_behav2.65990395
19MP0003191_abnormal_cellular_cholesterol2.63840753
20MP0003705_abnormal_hypodermis_morpholog2.59994319
21MP0002734_abnormal_mechanical_nocicepti2.51281535
22MP0003300_gastrointestinal_ulcer2.42373668
23MP0005423_abnormal_somatic_nervous2.35798328
24MP0002419_abnormal_innate_immunity2.28579375
25MP0005464_abnormal_platelet_physiology2.28003831
26MP0000778_abnormal_nervous_system2.11452174
27MP0002735_abnormal_chemical_nociception2.11368191
28MP0001958_emphysema2.11282107
29MP0003828_pulmonary_edema2.08892494
30MP0002067_abnormal_sensory_capabilities2.02553889
31MP0001501_abnormal_sleep_pattern1.96411505
32MP0001533_abnormal_skeleton_physiology1.94590960
33MP0002733_abnormal_thermal_nociception1.93457061
34MP0001440_abnormal_grooming_behavior1.91193214
35MP0003183_abnormal_peptide_metabolism1.88834524
36MP0001835_abnormal_antigen_presentation1.88593910
37MP0001970_abnormal_pain_threshold1.87871435
38MP0005451_abnormal_body_composition1.87856215
39MP0000920_abnormal_myelination1.87326109
40MP0003329_amyloid_beta_deposits1.87005408
41MP0004885_abnormal_endolymph1.86746818
42MP0005025_abnormal_response_to1.83324950
43MP0004381_abnormal_hair_follicle1.80610862
44MP0003566_abnormal_cell_adhesion1.77781058
45MP0009780_abnormal_chondrocyte_physiolo1.77424294
46MP0001984_abnormal_olfaction1.77383417
47MP0002184_abnormal_innervation1.75273910
48MP0008569_lethality_at_weaning1.75033620
49MP0000955_abnormal_spinal_cord1.68965410
50MP0001502_abnormal_circadian_rhythm1.68472089
51MP0005646_abnormal_pituitary_gland1.66622037
52MP0004811_abnormal_neuron_physiology1.66297860
53MP0004924_abnormal_behavior1.64158157
54MP0005386_behavior/neurological_phenoty1.64158157
55MP0003045_fibrosis1.61918562
56MP0002557_abnormal_social/conspecific_i1.60370624
57MP0005000_abnormal_immune_tolerance1.59934251
58MP0002882_abnormal_neuron_morphology1.57411578
59MP0003690_abnormal_glial_cell1.56877440
60MP0005551_abnormal_eye_electrophysiolog1.55547169
61MP0004883_abnormal_blood_vessel1.55384610
62MP0003091_abnormal_cell_migration1.54984850
63MP0000465_gastrointestinal_hemorrhage1.51656507
64MP0001800_abnormal_humoral_immune1.50465694
65MP0008004_abnormal_stomach_pH1.49322599
66MP0002723_abnormal_immune_serum1.48577771
67MP0004742_abnormal_vestibular_system1.48457222
68MP0000685_abnormal_immune_system1.46314482
69MP0002066_abnormal_motor_capabilities/c1.46024179
70MP0002420_abnormal_adaptive_immunity1.45456746
71MP0006082_CNS_inflammation1.44800666
72MP0001905_abnormal_dopamine_level1.44253368
73MP0003633_abnormal_nervous_system1.44114427
74MP0001819_abnormal_immune_cell1.42857935
75MP0001851_eye_inflammation1.42378751
76MP0003787_abnormal_imprinting1.41051299
77MP0009278_abnormal_bone_marrow1.40970264
78MP0001529_abnormal_vocalization1.40166167
79MP0004947_skin_inflammation1.40133930
80MP0002229_neurodegeneration1.38772856
81MP0004858_abnormal_nervous_system1.38296373
82MP0005387_immune_system_phenotype1.36949078
83MP0001790_abnormal_immune_system1.36949078
84MP0000015_abnormal_ear_pigmentation1.31241268
85MP0009785_altered_susceptibility_to1.31079336
86MP0002452_abnormal_antigen_presenting1.30505261
87MP0002998_abnormal_bone_remodeling1.29113097
88MP0003631_nervous_system_phenotype1.29099666
89MP0004142_abnormal_muscle_tone1.27443426
90MP0005058_abnormal_lysosome_morphology1.27055625
91MP0005164_abnormal_response_to1.24944458
92MP0003634_abnormal_glial_cell1.22878155
93MP0005645_abnormal_hypothalamus_physiol1.22268449
94MP0003632_abnormal_nervous_system1.18637964
95MP0003879_abnormal_hair_cell1.15848504
96MP0003279_aneurysm1.15656383
97MP0002152_abnormal_brain_morphology1.15191881
98MP0001485_abnormal_pinna_reflex1.12206115
99MP0001963_abnormal_hearing_physiology1.09425634
100MP0005409_darkened_coat_color1.08649959
101MP0002405_respiratory_system_inflammati1.07750889
102MP0010234_abnormal_vibrissa_follicle1.05694711
103MP0002332_abnormal_exercise_endurance1.05467153
104MP0004145_abnormal_muscle_electrophysio1.04460824
105MP0005394_taste/olfaction_phenotype1.04335822
106MP0005499_abnormal_olfactory_system1.04335822
107MP0002132_abnormal_respiratory_system1.03808955
108MP0006276_abnormal_autonomic_nervous1.03378943
109MP0002909_abnormal_adrenal_gland1.03158995
110MP0002133_abnormal_respiratory_system1.01068478
111MP0005388_respiratory_system_phenotype1.01068478
112MP0002752_abnormal_somatic_nervous1.00803897
113MP0005166_decreased_susceptibility_to1.00679158
114MP0002148_abnormal_hypersensitivity_rea0.99579840
115MP0001177_atelectasis0.98505437
116MP0000716_abnormal_immune_system0.97338454
117MP0002398_abnormal_bone_marrow0.97084051
118MP0003866_abnormal_defecation0.96398795
119MP0000858_altered_metastatic_potential0.95919544
120MP0000767_abnormal_smooth_muscle0.95327447
121MP0005171_absent_coat_pigmentation0.94682178
122MP0005390_skeleton_phenotype0.94247243
123MP0005671_abnormal_response_to0.93920498
124MP0005076_abnormal_cell_differentiation0.92626727
125MP0002090_abnormal_vision0.89799461
126MP0000343_altered_response_to0.89338814
127MP0002069_abnormal_eating/drinking_beha0.88736642
128MP0004484_altered_response_of0.88376502
129MP0008438_abnormal_cutaneous_collagen0.86971488
130MP0001845_abnormal_inflammatory_respons0.86915841
131MP0000631_abnormal_neuroendocrine_gland0.85115433
132MP0003763_abnormal_thymus_physiology0.84533785
133MP0009764_decreased_sensitivity_to0.83510515
134MP0003122_maternal_imprinting0.82704775
135MP0001849_ear_inflammation0.82657492
136MP0000604_amyloidosis0.81850153
137MP0005023_abnormal_wound_healing0.80069227
138MP0000249_abnormal_blood_vessel0.79399615
139MP0005253_abnormal_eye_physiology0.79183197
140MP0010155_abnormal_intestine_physiology0.78407372
141MP0001188_hyperpigmentation0.78405358
142MP0008874_decreased_physiological_sensi0.77965485
143MP0003448_altered_tumor_morphology0.77464601
144MP0004130_abnormal_muscle_cell0.75249634
145MP0005397_hematopoietic_system_phenotyp0.75175725
146MP0001545_abnormal_hematopoietic_system0.75175725
147MP0000026_abnormal_inner_ear0.74611002
148MP0008961_abnormal_basal_metabolism0.73344947
149MP0000569_abnormal_digit_pigmentation0.73142366
150MP0000751_myopathy0.70951676
151MP0005248_abnormal_Harderian_gland0.70654587
152MP0005410_abnormal_fertilization0.70110540
153MP0004085_abnormal_heartbeat0.69410639
154MP0002877_abnormal_melanocyte_morpholog0.68681950
155MP0003453_abnormal_keratinocyte_physiol0.68245696
156MP0002722_abnormal_immune_system0.67941512
157MP0001346_abnormal_lacrimal_gland0.67498240
158MP0003075_altered_response_to0.66085760
159MP0003172_abnormal_lysosome_physiology0.65181921
160MP0003861_abnormal_nervous_system0.64825192
161MP0003137_abnormal_impulse_conducting0.62271107
162MP0005535_abnormal_body_temperature0.61684793
163MP0005167_abnormal_blood-brain_barrier0.60126537
164MP0004510_myositis0.60011700
165MP0005195_abnormal_posterior_eye0.58994204
166MP0003136_yellow_coat_color0.56246390
167MP0006072_abnormal_retinal_apoptosis0.56093503
168MP0010386_abnormal_urinary_bladder0.53935939
169MP0001299_abnormal_eye_distance/0.53385364
170MP0010769_abnormal_survival0.53329199
171MP0004043_abnormal_pH_regulation0.52931993
172MP0010770_preweaning_lethality0.52625406
173MP0002082_postnatal_lethality0.52625406

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.25570877
2Myokymia (HP:0002411)6.09996634
3Focal seizures (HP:0007359)5.19261986
4Epileptic encephalopathy (HP:0200134)4.64090297
5Eczematoid dermatitis (HP:0000976)4.57895454
6Atonic seizures (HP:0010819)4.34234536
7Visual hallucinations (HP:0002367)4.17104984
8Febrile seizures (HP:0002373)4.09189792
9Myositis (HP:0100614)4.07554421
10Orchitis (HP:0100796)4.06897482
11Supranuclear gaze palsy (HP:0000605)3.82380243
12Recurrent bacterial skin infections (HP:0005406)3.75539006
13Abnormality of the corticospinal tract (HP:0002492)3.72061221
14Recurrent abscess formation (HP:0002722)3.70032166
15Progressive cerebellar ataxia (HP:0002073)3.66938454
16Degeneration of the lateral corticospinal tracts (HP:0002314)3.66082072
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.66082072
18Urinary bladder sphincter dysfunction (HP:0002839)3.64558180
19Optic neuritis (HP:0100653)3.63655077
20Retrobulbar optic neuritis (HP:0100654)3.63655077
21Hyperventilation (HP:0002883)3.59981252
22Action tremor (HP:0002345)3.56345343
23Absence seizures (HP:0002121)3.54697704
24Neurofibrillary tangles (HP:0002185)3.54502636
25Abnormality of macrophages (HP:0004311)3.51605464
26Peritonitis (HP:0002586)3.47653815
27Spontaneous hematomas (HP:0007420)3.42410560
28Broad-based gait (HP:0002136)3.39906308
29Gaze-evoked nystagmus (HP:0000640)3.38360890
30* Spastic gait (HP:0002064)3.35464094
31Generalized tonic-clonic seizures (HP:0002069)3.30270852
32Prolonged bleeding time (HP:0003010)3.25476451
33* Dysmetria (HP:0001310)3.25049262
34Dialeptic seizures (HP:0011146)3.25025567
35Cerebral inclusion bodies (HP:0100314)3.17200464
36Ankle clonus (HP:0011448)3.15867800
37Impaired vibration sensation in the lower limbs (HP:0002166)3.14673383
38Obstructive sleep apnea (HP:0002870)3.06717274
39Recurrent gram-negative bacterial infections (HP:0005420)3.02987881
40Gingivitis (HP:0000230)3.00559559
41Gastrointestinal infarctions (HP:0005244)2.97509328
42Dysdiadochokinesis (HP:0002075)2.96637239
43Urinary urgency (HP:0000012)2.94773082
44Gingival bleeding (HP:0000225)2.90055302
45Intention tremor (HP:0002080)2.88649558
46Termporal pattern (HP:0011008)2.87674524
47Insidious onset (HP:0003587)2.87674524
48Postural instability (HP:0002172)2.84500121
49Depression (HP:0000716)2.82696980
50Aqueductal stenosis (HP:0002410)2.80641222
51Stomatitis (HP:0010280)2.77796699
52Poor eye contact (HP:0000817)2.74924098
53Difficulty running (HP:0009046)2.74402239
54Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.72842935
55Scanning speech (HP:0002168)2.72011428
56Lower limb muscle weakness (HP:0007340)2.72003587
57Truncal ataxia (HP:0002078)2.67363462
58Keratoconjunctivitis sicca (HP:0001097)2.66884170
59Drooling (HP:0002307)2.66514594
60Excessive salivation (HP:0003781)2.66514594
61Cellulitis (HP:0100658)2.63899614
62Muscle fiber splitting (HP:0003555)2.60518071
63Epistaxis (HP:0000421)2.59192560
64Abnormal platelet volume (HP:0011876)2.58343689
65Amyloidosis (HP:0011034)2.57937068
66Absent speech (HP:0001344)2.55289587
67Anxiety (HP:0000739)2.54461656
68Episodic fever (HP:0001954)2.51459636
69Impaired social interactions (HP:0000735)2.47962053
70Abnormal social behavior (HP:0012433)2.47962053
71Elevated erythrocyte sedimentation rate (HP:0003565)2.39171722
72Amblyopia (HP:0000646)2.38325698
73Hyporeflexia of lower limbs (HP:0002600)2.37034878
74Chest pain (HP:0100749)2.36613793
75Increased variability in muscle fiber diameter (HP:0003557)2.36213687
76Mutism (HP:0002300)2.33829655
77Keratoconjunctivitis (HP:0001096)2.33610858
78Epileptiform EEG discharges (HP:0011182)2.33356859
79Hemiparesis (HP:0001269)2.32626376
80Menorrhagia (HP:0000132)2.32490893
81Insomnia (HP:0100785)2.31834337
82Central scotoma (HP:0000603)2.30273663
83Generalized myoclonic seizures (HP:0002123)2.29538912
84Blue irides (HP:0000635)2.29152908
85Slow saccadic eye movements (HP:0000514)2.27170057
86Sensory axonal neuropathy (HP:0003390)2.26923129
87EEG with generalized epileptiform discharges (HP:0011198)2.23733850
88Hypochromic microcytic anemia (HP:0004840)2.23513167
89Recurrent fungal infections (HP:0002841)2.23004633
90Recurrent skin infections (HP:0001581)2.21948267
91Impaired vibratory sensation (HP:0002495)2.21864978
92Genetic anticipation (HP:0003743)2.21227569
93Aortic aneurysm (HP:0004942)2.19275040
94Stereotypic behavior (HP:0000733)2.18644801
95Onion bulb formation (HP:0003383)2.16590111
96Increased IgE level (HP:0003212)2.15753318
97Megalencephaly (HP:0001355)2.14654666
98Dynein arm defect of respiratory motile cilia (HP:0012255)2.14603411
99Absent/shortened dynein arms (HP:0200106)2.14603411
100Abnormality of binocular vision (HP:0011514)2.13154315
101Diplopia (HP:0000651)2.13154315
102Widely spaced teeth (HP:0000687)2.13040320
103Bradykinesia (HP:0002067)2.13032007
104Hypsarrhythmia (HP:0002521)2.12527125
105Obstructive lung disease (HP:0006536)2.11801068
106Chronic obstructive pulmonary disease (HP:0006510)2.11801068
107Arterial thrombosis (HP:0004420)2.11608852
108Torticollis (HP:0000473)2.10378144
109Abnormal eating behavior (HP:0100738)2.10364596
110Cerebral aneurysm (HP:0004944)2.09460036
111Increased mean platelet volume (HP:0011877)2.07536458
112Mediastinal lymphadenopathy (HP:0100721)2.05754820
113Abnormality of skeletal muscle fiber size (HP:0012084)2.03410916
114Abnormality of the peritoneum (HP:0002585)2.01670269
115Clonus (HP:0002169)2.01104258
116Meningitis (HP:0001287)1.99582496
117Urticaria (HP:0001025)1.97827025
118Pulmonary embolism (HP:0002204)1.95757161
119Increased connective tissue (HP:0009025)1.95331582
120Purpura (HP:0000979)1.94930227
121Arterial tortuosity (HP:0005116)1.94363921
122Abnormality of the lower motor neuron (HP:0002366)1.93475123
123Aplasia involving bones of the upper limbs (HP:0009823)1.93331461
124Aplasia of the phalanges of the hand (HP:0009802)1.93331461
125Aplasia involving bones of the extremities (HP:0009825)1.93331461
126Abnormality of salivation (HP:0100755)1.92797700
127Thickened helices (HP:0000391)1.92111484
128Fetal akinesia sequence (HP:0001989)1.91921677
129Vascular tortuosity (HP:0004948)1.91690246
130Hemoptysis (HP:0002105)1.91620354
131Impaired smooth pursuit (HP:0007772)1.91426096
132Gait imbalance (HP:0002141)1.91097095
133Petechiae (HP:0000967)1.90989514
134Protruding tongue (HP:0010808)1.90487288
135Dilatation of the ascending aorta (HP:0005111)1.89904499
136Overriding aorta (HP:0002623)1.88341860
137Decreased motor nerve conduction velocity (HP:0003431)1.87319087
138Papilledema (HP:0001085)1.87217860
139Subacute progressive viral hepatitis (HP:0006572)1.84985459
140Abnormality of macular pigmentation (HP:0008002)1.84815712
141Vasculitis (HP:0002633)1.83351781
142Ventricular fibrillation (HP:0001663)1.82282611
143Polycythemia (HP:0001901)1.81781150
144Progressive inability to walk (HP:0002505)1.81668324
145Hypochromic anemia (HP:0001931)1.80986439
146Pointed chin (HP:0000307)1.80613464
147Bowel incontinence (HP:0002607)1.80557275
148Aneurysm (HP:0002617)1.80489232
149Focal dystonia (HP:0004373)1.80278736
150Encephalitis (HP:0002383)1.80025342
151Spastic paraplegia (HP:0001258)1.78608853
152Incomplete penetrance (HP:0003829)1.78461718
153Paraplegia (HP:0010550)1.77913011
154Vertigo (HP:0002321)1.77440135
155Abnormality of ocular smooth pursuit (HP:0000617)1.76958101
156Retinal dysplasia (HP:0007973)1.76347829
157Hemiplegia (HP:0002301)1.76009206
158* Gastroesophageal reflux (HP:0002020)1.75677424
159Bruising susceptibility (HP:0000978)1.75456516
160Psychosis (HP:0000709)1.75197964
161Severe Myopia (HP:0011003)1.75187558
162Ocular albinism (HP:0001107)1.74797522
163Metaphyseal cupping (HP:0003021)1.74408854
164Neuronal loss in central nervous system (HP:0002529)1.74359161
165Abnormality of the endocardium (HP:0004306)1.73459265
166Prolonged QT interval (HP:0001657)1.73332453
167Abnormality of saccadic eye movements (HP:0000570)1.72412637
168Segmental peripheral demyelination/remyelination (HP:0003481)1.72086575
169* Gait ataxia (HP:0002066)1.71685495
170Pheochromocytoma (HP:0002666)1.71649381
171Rapidly progressive (HP:0003678)1.70898561
172Pulmonary infiltrates (HP:0002113)1.70265186
173Abnormal delayed hypersensitivity skin test (HP:0002963)1.68008460
174Interstitial pulmonary disease (HP:0006530)1.66501904
175Difficulty climbing stairs (HP:0003551)1.66132165
176Resting tremor (HP:0002322)1.65319318
177Protrusio acetabuli (HP:0003179)1.65072756
178Annular pancreas (HP:0001734)1.63563602
179Osteomyelitis (HP:0002754)1.62065486
180Leukocytosis (HP:0001974)1.60515553
181Mitral stenosis (HP:0001718)1.58346509
182Recurrent cutaneous fungal infections (HP:0011370)1.57903281
183Chronic mucocutaneous candidiasis (HP:0002728)1.57903281
184Acne (HP:0001061)1.57604954
185Broad face (HP:0000283)1.56266497
186T lymphocytopenia (HP:0005403)1.54345341
187Dysostosis multiplex (HP:0000943)1.50941226

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.35642649
2NTRK33.78768320
3MAP3K92.87133341
4MAP2K32.62890498
5NTRK22.62275017
6DAPK22.60052656
7MAP3K42.57094273
8MARK12.53529563
9TNIK2.45227193
10PAK62.30203712
11PNCK2.26454765
12MAP2K72.25936474
13ERN12.22563131
14MAP3K32.09238035
15MINK12.06103510
16BLK2.06039262
17TRIB32.05545152
18CASK1.93459118
19IRAK41.91660381
20CSK1.89702203
21OXSR11.89047790
22NTRK11.81428088
23PRKD31.76394515
24TAOK11.73324695
25PRPF4B1.69184710
26TYK21.67967027
27STK391.67720770
28MAP2K41.65782664
29CDK51.63947011
30RIPK41.63631057
31ZAP701.58510456
32GRK61.49440324
33CDK191.49279243
34RIPK11.48526568
35MAP4K11.42952550
36MAP3K111.37119982
37CAMKK11.36336072
38KSR21.34796435
39MAPK131.31961082
40FES1.31527804
41MAP3K121.31518247
42PRKD21.25194424
43CSNK1G21.25086330
44HCK1.23575865
45SGK4941.22514822
46SGK2231.22514822
47PLK21.21979166
48STK381.20796101
49DAPK11.19430018
50IRAK21.18530178
51TYRO31.18184914
52SIK11.15215607
53CAMK1G1.14061860
54MAP3K61.13373100
55JAK21.11602401
56JAK31.11492616
57PKN11.11283043
58SIK21.11142540
59JAK11.10768530
60WNK11.09091562
61UHMK11.09062446
62CAMK2A1.06045557
63MAP3K131.05514555
64KSR11.05104689
65ICK1.04876050
66NEK61.04300800
67GRK51.03633671
68STK111.03558108
69CSNK1A1L1.03411374
70PHKG11.01150432
71PHKG21.01150432
72PRKCG1.00295138
73MARK20.99985390
74CDK120.98719615
75FGR0.98465205
76CSNK1G30.95917038
77BTK0.95811607
78CAMK2B0.95450524
79TTN0.92686851
80BMPR20.92186075
81MAP3K20.91715726
82TNK20.89079810
83MAPK120.88769981
84FGFR20.88387344
85PTK60.88002327
86IRAK10.87921921
87SYK0.87851399
88ARAF0.85611283
89CAMK10.85333688
90PRKCH0.83683116
91SGK20.82175075
92PAK30.79163596
93FGFR40.78467593
94SGK10.76958760
95FGFR30.76385645
96SGK30.76238266
97YES10.76209553
98CDK150.75516641
99CDK180.74314501
100MAP3K70.72873004
101FER0.71799570
102TAOK20.70983574
103PIK3CG0.70865450
104NEK10.70389515
105PINK10.69603530
106CDK140.68542746
107PDGFRB0.67815783
108CAMK2D0.67655369
109PTK2B0.67618205
110PRKD10.65554177
111EPHA30.65247459
112DYRK1A0.64598218
113MARK30.64421843
114BMX0.63905143
115FYN0.63568580
116PDPK10.62733969
117PDK10.62512015
118TBK10.62318625
119CSNK1G10.62279909
120CDK11A0.61562802
121PKN20.60992480
122IKBKE0.60456092
123ROCK20.58686382
124RET0.56493919
125RPS6KA20.56393637
126PRKCE0.56236667
127MAPK70.55578787
128CSF1R0.55398327
129TGFBR20.55104702
130BCR0.54692522
131PRKG20.54143985
132DYRK1B0.53852066
133LYN0.53370022
134MAPK100.51993667
135CAMK2G0.51695387
136WNK40.50575201
137SMG10.50507046
138CDC42BPA0.49218146
139MAP3K50.47922826
140PTK20.46502536
141RPS6KA30.46502220
142LCK0.44701339
143ALK0.44538561
144MAPKAPK50.43336443
145PRKCZ0.40957302
146DDR20.38297155
147PRKG10.36548746
148MAP3K10.36315768
149PRKCQ0.35571847
150EPHB10.34773311
151RAF10.34545767
152CAMKK20.34159059
153CAMK40.33453409

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.51461914
2Synaptic vesicle cycle_Homo sapiens_hsa047212.98077116
3Circadian entrainment_Homo sapiens_hsa047132.72845471
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.66763806
5GABAergic synapse_Homo sapiens_hsa047272.66388489
6Glutamatergic synapse_Homo sapiens_hsa047242.65976056
7Olfactory transduction_Homo sapiens_hsa047402.60820946
8Morphine addiction_Homo sapiens_hsa050322.53743299
9Long-term potentiation_Homo sapiens_hsa047202.50021735
10Amphetamine addiction_Homo sapiens_hsa050312.23957929
11Salivary secretion_Homo sapiens_hsa049702.15064007
12Insulin secretion_Homo sapiens_hsa049112.02457643
13Dopaminergic synapse_Homo sapiens_hsa047282.02191498
14Osteoclast differentiation_Homo sapiens_hsa043802.00642679
15Cholinergic synapse_Homo sapiens_hsa047251.85580477
16Serotonergic synapse_Homo sapiens_hsa047261.84113325
17Gastric acid secretion_Homo sapiens_hsa049711.76884138
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.75019040
19Renin secretion_Homo sapiens_hsa049241.72816437
20Taste transduction_Homo sapiens_hsa047421.67847948
21Phototransduction_Homo sapiens_hsa047441.64968698
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.63730350
23Long-term depression_Homo sapiens_hsa047301.62264552
24B cell receptor signaling pathway_Homo sapiens_hsa046621.58902665
25Oxytocin signaling pathway_Homo sapiens_hsa049211.57660763
26Calcium signaling pathway_Homo sapiens_hsa040201.56155296
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51189615
28Leishmaniasis_Homo sapiens_hsa051401.49816323
29Axon guidance_Homo sapiens_hsa043601.46670112
30Cocaine addiction_Homo sapiens_hsa050301.44441048
31Platelet activation_Homo sapiens_hsa046111.41361420
32Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.40902350
33Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.38069772
34Acute myeloid leukemia_Homo sapiens_hsa052211.34314641
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.33098398
36GnRH signaling pathway_Homo sapiens_hsa049121.31959968
37Toll-like receptor signaling pathway_Homo sapiens_hsa046201.31632594
38Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.31358823
39Tuberculosis_Homo sapiens_hsa051521.30759714
40Collecting duct acid secretion_Homo sapiens_hsa049661.29561217
41Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29389966
42cAMP signaling pathway_Homo sapiens_hsa040241.29328849
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.28230086
44Malaria_Homo sapiens_hsa051441.27703897
45Phosphatidylinositol signaling system_Homo sapiens_hsa040701.25325002
46Gap junction_Homo sapiens_hsa045401.24723723
47Leukocyte transendothelial migration_Homo sapiens_hsa046701.24578254
48Type II diabetes mellitus_Homo sapiens_hsa049301.24262413
49Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20683071
50Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.13600904
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13046927
52Staphylococcus aureus infection_Homo sapiens_hsa051501.11627480
53Chronic myeloid leukemia_Homo sapiens_hsa052201.09581172
54ErbB signaling pathway_Homo sapiens_hsa040121.08915531
55Amoebiasis_Homo sapiens_hsa051461.06551251
56AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.04867658
57Notch signaling pathway_Homo sapiens_hsa043301.04017625
58Vascular smooth muscle contraction_Homo sapiens_hsa042701.02654705
59Pancreatic cancer_Homo sapiens_hsa052120.99690985
60T cell receptor signaling pathway_Homo sapiens_hsa046600.98705197
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.98649936
62Melanogenesis_Homo sapiens_hsa049160.98181405
63Toxoplasmosis_Homo sapiens_hsa051450.97513469
64mTOR signaling pathway_Homo sapiens_hsa041500.97254191
65cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97168070
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96344705
67Pancreatic secretion_Homo sapiens_hsa049720.96227002
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.94201748
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.93574446
70TNF signaling pathway_Homo sapiens_hsa046680.92687060
71Phagosome_Homo sapiens_hsa041450.91703285
72Estrogen signaling pathway_Homo sapiens_hsa049150.91370315
73Prolactin signaling pathway_Homo sapiens_hsa049170.91339805
74Focal adhesion_Homo sapiens_hsa045100.89453943
75NOD-like receptor signaling pathway_Homo sapiens_hsa046210.89434941
76Dorso-ventral axis formation_Homo sapiens_hsa043200.89305067
77Glioma_Homo sapiens_hsa052140.89151090
78Measles_Homo sapiens_hsa051620.88282458
79Vibrio cholerae infection_Homo sapiens_hsa051100.87441349
80Hepatitis C_Homo sapiens_hsa051600.86848399
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85794548
82FoxO signaling pathway_Homo sapiens_hsa040680.83904353
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82880356
84Jak-STAT signaling pathway_Homo sapiens_hsa046300.82666510
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.81317614
86Hepatitis B_Homo sapiens_hsa051610.80900240
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79814403
88Ether lipid metabolism_Homo sapiens_hsa005650.79174033
89Influenza A_Homo sapiens_hsa051640.78782398
90Insulin signaling pathway_Homo sapiens_hsa049100.77068846
91Nitrogen metabolism_Homo sapiens_hsa009100.76896746
92Dilated cardiomyopathy_Homo sapiens_hsa054140.76407864
93Choline metabolism in cancer_Homo sapiens_hsa052310.75700025
94Cardiac muscle contraction_Homo sapiens_hsa042600.74333255
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.74151328
96Ras signaling pathway_Homo sapiens_hsa040140.73768430
97Legionellosis_Homo sapiens_hsa051340.72255717
98MAPK signaling pathway_Homo sapiens_hsa040100.71444740
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70610920
100Thyroid hormone synthesis_Homo sapiens_hsa049180.69449082
101Oocyte meiosis_Homo sapiens_hsa041140.68373252
102Salmonella infection_Homo sapiens_hsa051320.67732066
103Proteoglycans in cancer_Homo sapiens_hsa052050.66624414
104Insulin resistance_Homo sapiens_hsa049310.65603197
105Glycosaminoglycan degradation_Homo sapiens_hsa005310.64544538
106Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64081698
107Apoptosis_Homo sapiens_hsa042100.63573222
108Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.61804053
109Inositol phosphate metabolism_Homo sapiens_hsa005620.60593689
110Rap1 signaling pathway_Homo sapiens_hsa040150.56140226
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.55744128
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.55722448
113Wnt signaling pathway_Homo sapiens_hsa043100.52544943
114Circadian rhythm_Homo sapiens_hsa047100.51777910
115Endocytosis_Homo sapiens_hsa041440.51117960
116Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47973706
117Ovarian steroidogenesis_Homo sapiens_hsa049130.47878034
118Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47791659
119Renal cell carcinoma_Homo sapiens_hsa052110.47335706
120Bile secretion_Homo sapiens_hsa049760.46450832
121Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46197131
122Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45904869
123Glucagon signaling pathway_Homo sapiens_hsa049220.45618173
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45276295
125Glycerophospholipid metabolism_Homo sapiens_hsa005640.45195047
126Alcoholism_Homo sapiens_hsa050340.43780633
127VEGF signaling pathway_Homo sapiens_hsa043700.42300527
128Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.42190109
129SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40144614
130Neurotrophin signaling pathway_Homo sapiens_hsa047220.39167049
131Endometrial cancer_Homo sapiens_hsa052130.38077821
132Chemokine signaling pathway_Homo sapiens_hsa040620.37633097
133Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37017035
134Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36123213
135Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35136899
136Tight junction_Homo sapiens_hsa045300.33751903
137Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32663664
138Fatty acid elongation_Homo sapiens_hsa000620.30642351
139Fatty acid biosynthesis_Homo sapiens_hsa000610.30259337
140Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29913165
141Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28899221
142Non-small cell lung cancer_Homo sapiens_hsa052230.28566877
143Prion diseases_Homo sapiens_hsa050200.28179890
144African trypanosomiasis_Homo sapiens_hsa051430.27516072

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