NECAP1

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 gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)5.83692236
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.74112308
3synaptic vesicle maturation (GO:0016188)5.56442350
4glutamate secretion (GO:0014047)5.45684285
5regulation of synaptic vesicle exocytosis (GO:2000300)5.18428122
6vocalization behavior (GO:0071625)5.17196697
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.03873500
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.93153242
9regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.86053537
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.82664813
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.81922847
12protein localization to synapse (GO:0035418)4.70012392
13neurotransmitter secretion (GO:0007269)4.69658436
14neuron cell-cell adhesion (GO:0007158)4.65881423
15proline transport (GO:0015824)4.64101085
16regulation of glutamate receptor signaling pathway (GO:1900449)4.59136402
17establishment of mitochondrion localization (GO:0051654)4.58739450
18regulation of synaptic vesicle transport (GO:1902803)4.58424014
19neurotransmitter-gated ion channel clustering (GO:0072578)4.53614850
20pyrimidine nucleobase catabolic process (GO:0006208)4.47470290
21locomotory exploration behavior (GO:0035641)4.26177052
22neuron-neuron synaptic transmission (GO:0007270)4.19405369
23neuronal action potential propagation (GO:0019227)4.16425661
24synaptic transmission, glutamatergic (GO:0035249)4.13200478
25ionotropic glutamate receptor signaling pathway (GO:0035235)4.05698650
26positive regulation of synapse maturation (GO:0090129)3.97566530
27neurotransmitter transport (GO:0006836)3.94752655
28gamma-aminobutyric acid signaling pathway (GO:0007214)3.93549567
29negative regulation of synaptic transmission, GABAergic (GO:0032229)3.92365109
30nucleobase catabolic process (GO:0046113)3.86310398
31glutamate receptor signaling pathway (GO:0007215)3.84172139
32regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.84075506
33gamma-aminobutyric acid transport (GO:0015812)3.68277002
34exploration behavior (GO:0035640)3.63249137
35response to histamine (GO:0034776)3.63219979
36regulation of neuronal synaptic plasticity (GO:0048168)3.60702379
37membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.58667526
38regulation of long-term neuronal synaptic plasticity (GO:0048169)3.57600411
39synaptic vesicle endocytosis (GO:0048488)3.56454900
40long-term synaptic potentiation (GO:0060291)3.53566641
41regulation of neurotransmitter levels (GO:0001505)3.52729353
42cerebellar granule cell differentiation (GO:0021707)3.51690217
43establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.51588058
44mitochondrion transport along microtubule (GO:0047497)3.51588058
45glycosphingolipid biosynthetic process (GO:0006688)3.49132788
46presynaptic membrane assembly (GO:0097105)3.47822578
47behavioral fear response (GO:0001662)3.44931042
48behavioral defense response (GO:0002209)3.44931042
49postsynaptic membrane organization (GO:0001941)3.43620906
50ATP hydrolysis coupled proton transport (GO:0015991)3.39892790
51energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.39892790
52regulation of neurotransmitter secretion (GO:0046928)3.39892644
53regulation of excitatory postsynaptic membrane potential (GO:0060079)3.39608445
54neuromuscular process controlling posture (GO:0050884)3.38766950
55transferrin transport (GO:0033572)3.37706114
56auditory behavior (GO:0031223)3.37691687
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.37597577
58striatum development (GO:0021756)3.37132108
59long-term memory (GO:0007616)3.34453497
60regulation of synapse structural plasticity (GO:0051823)3.32459296
61regulation of postsynaptic membrane potential (GO:0060078)3.31353348
62organelle transport along microtubule (GO:0072384)3.30919879
63positive regulation of membrane potential (GO:0045838)3.29731049
64neurofilament cytoskeleton organization (GO:0060052)3.29654051
65positive regulation of synaptic transmission, GABAergic (GO:0032230)3.29122318
66G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.28808284
67cerebellar Purkinje cell differentiation (GO:0021702)3.24250132
68fear response (GO:0042596)3.23299453
69axonal fasciculation (GO:0007413)3.23129448
70presynaptic membrane organization (GO:0097090)3.22711493
71negative regulation of dendrite morphogenesis (GO:0050774)3.22035707
72positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.20321363
73negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.20189382
74regulation of synaptic plasticity (GO:0048167)3.18122691
75behavioral response to cocaine (GO:0048148)3.16078365
76regulation of dendritic spine morphogenesis (GO:0061001)3.15116260
77regulation of neurotransmitter transport (GO:0051588)3.13996395
78regulation of synapse maturation (GO:0090128)3.12549016
79ferric iron transport (GO:0015682)3.12398433
80trivalent inorganic cation transport (GO:0072512)3.12398433
81synaptic transmission (GO:0007268)3.10787670
82cellular potassium ion homeostasis (GO:0030007)3.10519798
83positive regulation of vesicle fusion (GO:0031340)3.09704540
84activation of protein kinase A activity (GO:0034199)3.08275957
85neuronal ion channel clustering (GO:0045161)3.08009383
86neuron recognition (GO:0008038)3.06937949
87regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.06168752
88daunorubicin metabolic process (GO:0044597)3.05063379
89polyketide metabolic process (GO:0030638)3.05063379
90doxorubicin metabolic process (GO:0044598)3.05063379
91vesicle transport along microtubule (GO:0047496)3.05000812
92positive regulation of neurotransmitter transport (GO:0051590)3.04247470
93sodium ion export (GO:0071436)3.04122930
94regulation of vesicle fusion (GO:0031338)3.02755847
95startle response (GO:0001964)3.02614965
96innervation (GO:0060384)3.02408703
97positive regulation of synaptic transmission (GO:0050806)3.01643611
98synaptic vesicle transport (GO:0048489)3.01408435
99establishment of synaptic vesicle localization (GO:0097480)3.01408435
100protein localization to cilium (GO:0061512)2.99776044
101establishment of vesicle localization (GO:0051650)2.99508256
102calcium-mediated signaling using intracellular calcium source (GO:0035584)2.98840448
103regulation of voltage-gated calcium channel activity (GO:1901385)2.97700862
104signal release (GO:0023061)2.95867665
105membrane hyperpolarization (GO:0060081)2.94810704
106membrane depolarization during action potential (GO:0086010)2.94444396
107positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.93829861
108dendritic spine morphogenesis (GO:0060997)2.92101152
109positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.90655119
110regulation of glutamate secretion (GO:0014048)2.89565958
111regulation of synaptic transmission, GABAergic (GO:0032228)2.88042637
112positive regulation of neurotransmitter secretion (GO:0001956)2.87013648
113dendrite morphogenesis (GO:0048813)2.86929798
114membrane depolarization (GO:0051899)2.86731698
115regulation of synaptic transmission (GO:0050804)2.86161857
116cell migration in hindbrain (GO:0021535)2.85610256
117learning (GO:0007612)2.84521929
118negative regulation of dendrite development (GO:2000171)2.84412870
119synapse assembly (GO:0007416)2.82271629
120layer formation in cerebral cortex (GO:0021819)2.82197628
121detection of calcium ion (GO:0005513)2.81854036
122dendritic spine organization (GO:0097061)2.80167054
123vesicle docking involved in exocytosis (GO:0006904)2.77159415
124regulation of dendritic spine development (GO:0060998)2.76860173
125response to auditory stimulus (GO:0010996)2.74640434
126adult walking behavior (GO:0007628)2.70543173
127positive regulation of mitochondrial fission (GO:0090141)2.69841870
128mechanosensory behavior (GO:0007638)2.69636792
129neuromuscular synaptic transmission (GO:0007274)2.67131061
130neurotransmitter uptake (GO:0001504)2.66964223

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.65354571
2GBX2_23144817_ChIP-Seq_PC3_Human4.08540166
3REST_21632747_ChIP-Seq_MESCs_Mouse3.11001418
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.02512281
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.88709614
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79712409
7REST_18959480_ChIP-ChIP_MESCs_Mouse2.63531234
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.58237656
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.53710138
10NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.43569846
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.39329691
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.39329691
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.35108659
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.33532880
15CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.27351523
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24208171
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.23207232
18IKZF1_21737484_ChIP-ChIP_HCT116_Human2.19597995
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.18277688
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.15426254
21MTF2_20144788_ChIP-Seq_MESCs_Mouse2.11489988
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10402309
23TAF15_26573619_Chip-Seq_HEK293_Human2.09669462
24CTBP2_25329375_ChIP-Seq_LNCAP_Human2.04240824
25CTBP1_25329375_ChIP-Seq_LNCAP_Human1.90134956
26RNF2_27304074_Chip-Seq_ESCs_Mouse1.89528673
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.85987383
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.85923397
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.83455997
30SMAD4_21799915_ChIP-Seq_A2780_Human1.80461953
31SUZ12_27294783_Chip-Seq_ESCs_Mouse1.75374009
32ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73944141
33IGF1R_20145208_ChIP-Seq_DFB_Human1.73616990
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.71994646
35RNF2_27304074_Chip-Seq_NSC_Mouse1.70350869
36DROSHA_22980978_ChIP-Seq_HELA_Human1.66648619
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65375499
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.61204094
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.60652958
40AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.53377116
41VDR_22108803_ChIP-Seq_LS180_Human1.53366625
42* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.53279264
43P300_19829295_ChIP-Seq_ESCs_Human1.48690197
44KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.42708857
45KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.42708857
46KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.42708857
47EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42693286
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.40490664
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.38462631
50BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.38422887
51NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.37399075
52NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.35053455
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33257195
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30843148
55CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.30620959
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29381342
57STAT3_23295773_ChIP-Seq_U87_Human1.28881351
58AR_25329375_ChIP-Seq_VCAP_Human1.27981884
59AR_21572438_ChIP-Seq_LNCaP_Human1.27084778
60CBP_20019798_ChIP-Seq_JUKART_Human1.25818002
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25818002
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.23874143
63SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23737523
64GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23661098
65NANOG_18555785_Chip-Seq_ESCs_Mouse1.23440299
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22477325
67CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.21920888
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21266956
69POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20276471
70* RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.19880894
71FLI1_27457419_Chip-Seq_LIVER_Mouse1.18842466
72TP53_22573176_ChIP-Seq_HFKS_Human1.17611543
73PIAS1_25552417_ChIP-Seq_VCAP_Human1.16791386
74AR_19668381_ChIP-Seq_PC3_Human1.16512636
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.16017427
76MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.15002007
77TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13838344
78TAL1_26923725_Chip-Seq_HPCs_Mouse1.13636594
79CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12788776
80OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12424529
81JUN_21703547_ChIP-Seq_K562_Human1.11398304
82FUS_26573619_Chip-Seq_HEK293_Human1.11110965
83CBX2_27304074_Chip-Seq_ESCs_Mouse1.10915190
84SMAD3_21741376_ChIP-Seq_EPCs_Human1.10525690
85ER_23166858_ChIP-Seq_MCF-7_Human1.09672578
86PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.09508756
87KLF5_20875108_ChIP-Seq_MESCs_Mouse1.09155943
88FLI1_21867929_ChIP-Seq_TH2_Mouse1.07569535
89ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05736246
90ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05639668
91ARNT_22903824_ChIP-Seq_MCF-7_Human1.05243154
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05149553
93RUNX2_22187159_ChIP-Seq_PCA_Human1.04042400
94UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03043485
95P53_22387025_ChIP-Seq_ESCs_Mouse1.02913690
96CMYC_18555785_Chip-Seq_ESCs_Mouse1.02331513
97TCF4_23295773_ChIP-Seq_U87_Human1.02200366
98DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02090948
99CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01778520
100SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01636477
101AHR_22903824_ChIP-Seq_MCF-7_Human1.01427025
102EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01265170
103* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.99557096
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98745131
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98745131
106YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98666689
107RING1B_27294783_Chip-Seq_NPCs_Mouse0.98508892
108RING1B_27294783_Chip-Seq_ESCs_Mouse0.98412896
109RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.97101025
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95330537
111PCGF2_27294783_Chip-Seq_ESCs_Mouse0.95057599
112NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94888477
113SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.94612773
114E2F1_18555785_Chip-Seq_ESCs_Mouse0.93832605
115BCAT_22108803_ChIP-Seq_LS180_Human0.93339438
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.92652654
117LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92588717
118SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92427745
119TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.90924470
120* E2F1_17053090_ChIP-ChIP_MCF-7_Human0.90892934
121SMAD_19615063_ChIP-ChIP_OVARY_Human0.88118483
122SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.85523077
123TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84562687
124SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84347340
125FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.84095495
126PRDM14_20953172_ChIP-Seq_ESCs_Human0.83779575
127GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.83595351
128ELK4_26923725_Chip-Seq_MESODERM_Mouse0.83528251
129ZNF274_21170338_ChIP-Seq_K562_Hela0.82771230

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.14903040
2MP0003880_abnormal_central_pattern4.55843489
3MP0003635_abnormal_synaptic_transmissio3.71620700
4MP0004270_analgesia3.45360675
5MP0009046_muscle_twitch3.37587211
6MP0009745_abnormal_behavioral_response3.14354831
7MP0002064_seizures3.13631581
8MP0002063_abnormal_learning/memory/cond3.09598171
9MP0001968_abnormal_touch/_nociception3.06679910
10MP0002572_abnormal_emotion/affect_behav2.85084557
11MP0003122_maternal_imprinting2.79228319
12MP0002734_abnormal_mechanical_nocicepti2.70058260
13MP0002736_abnormal_nociception_after2.59809420
14MP0004858_abnormal_nervous_system2.53800420
15MP0002272_abnormal_nervous_system2.53672508
16MP0002735_abnormal_chemical_nociception2.53275286
17MP0002822_catalepsy2.46764843
18MP0001501_abnormal_sleep_pattern2.33609789
19MP0001486_abnormal_startle_reflex2.31444683
20MP0003787_abnormal_imprinting2.22635158
21MP0006276_abnormal_autonomic_nervous2.22385779
22MP0002733_abnormal_thermal_nociception2.15401458
23MP0001440_abnormal_grooming_behavior2.13115182
24MP0001970_abnormal_pain_threshold2.03284375
25MP0002067_abnormal_sensory_capabilities1.99311434
26MP0005423_abnormal_somatic_nervous1.99081230
27MP0002909_abnormal_adrenal_gland1.95864632
28MP0008877_abnormal_DNA_methylation1.88854222
29MP0000569_abnormal_digit_pigmentation1.85767437
30MP0002184_abnormal_innervation1.83017423
31MP0005499_abnormal_olfactory_system1.78170705
32MP0005394_taste/olfaction_phenotype1.78170705
33MP0001984_abnormal_olfaction1.74982689
34MP0005646_abnormal_pituitary_gland1.70649009
35MP0001529_abnormal_vocalization1.63629959
36MP0004924_abnormal_behavior1.62189988
37MP0005386_behavior/neurological_phenoty1.62189988
38MP0002557_abnormal_social/conspecific_i1.61720769
39MP0004811_abnormal_neuron_physiology1.56804169
40MP0006292_abnormal_olfactory_placode1.52625708
41MP0009780_abnormal_chondrocyte_physiolo1.52488679
42MP0000955_abnormal_spinal_cord1.48104492
43MP0003183_abnormal_peptide_metabolism1.46978238
44MP0000778_abnormal_nervous_system1.46176092
45MP0004142_abnormal_muscle_tone1.45499793
46MP0003879_abnormal_hair_cell1.44552375
47MP0003121_genomic_imprinting1.40723214
48MP0005551_abnormal_eye_electrophysiolog1.39487009
49MP0008569_lethality_at_weaning1.31550042
50MP0002882_abnormal_neuron_morphology1.30836912
51MP0002102_abnormal_ear_morphology1.30384396
52MP0006035_abnormal_mitochondrial_morpho1.29874559
53MP0002066_abnormal_motor_capabilities/c1.28660914
54MP0001905_abnormal_dopamine_level1.27845171
55MP0001188_hyperpigmentation1.25786925
56MP0002876_abnormal_thyroid_physiology1.24566935
57MP0003123_paternal_imprinting1.23651272
58MP0002332_abnormal_exercise_endurance1.20504158
59MP0004043_abnormal_pH_regulation1.17558209
60MP0003690_abnormal_glial_cell1.17475110
61MP0002653_abnormal_ependyma_morphology1.14924846
62MP0008872_abnormal_physiological_respon1.12747537
63MP0010386_abnormal_urinary_bladder1.12297872
64MP0004742_abnormal_vestibular_system1.11635322
65MP0003329_amyloid_beta_deposits1.09368844
66MP0001502_abnormal_circadian_rhythm1.06350959
67MP0002229_neurodegeneration1.06231891
68MP0003011_delayed_dark_adaptation1.05762832
69MP0005645_abnormal_hypothalamus_physiol1.04868387
70MP0003633_abnormal_nervous_system1.04445401
71MP0003890_abnormal_embryonic-extraembry1.02818025
72MP0002090_abnormal_vision1.00578426
73MP0000920_abnormal_myelination0.98594682
74MP0000604_amyloidosis0.96546119
75MP0002837_dystrophic_cardiac_calcinosis0.93449954
76MP0002152_abnormal_brain_morphology0.92141603
77MP0004085_abnormal_heartbeat0.91956027
78MP0002069_abnormal_eating/drinking_beha0.91382707
79MP0004264_abnormal_extraembryonic_tissu0.91379673
80MP0001177_atelectasis0.90038829
81MP0005187_abnormal_penis_morphology0.89414680
82MP0002752_abnormal_somatic_nervous0.87792941
83MP0000013_abnormal_adipose_tissue0.86659370
84MP0008961_abnormal_basal_metabolism0.85702533
85MP0003631_nervous_system_phenotype0.84610576
86MP0001963_abnormal_hearing_physiology0.82865148
87MP0003283_abnormal_digestive_organ0.82500457
88MP0004885_abnormal_endolymph0.81957127
89MP0008995_early_reproductive_senescence0.81786186
90MP0008874_decreased_physiological_sensi0.81713351
91MP0004147_increased_porphyrin_level0.81212881
92MP0000631_abnormal_neuroendocrine_gland0.79217219
93MP0005253_abnormal_eye_physiology0.78004279
94MP0003221_abnormal_cardiomyocyte_apopto0.76001651
95MP0005535_abnormal_body_temperature0.74398860
96MP0004233_abnormal_muscle_weight0.73474175
97MP0002751_abnormal_autonomic_nervous0.72396129
98MP0004145_abnormal_muscle_electrophysio0.68914346
99MP0004215_abnormal_myocardial_fiber0.67465308
100MP0003634_abnormal_glial_cell0.66541477
101MP0003137_abnormal_impulse_conducting0.65623434
102MP0006072_abnormal_retinal_apoptosis0.65513806
103MP0008260_abnormal_autophagy0.65436783
104MP0001664_abnormal_digestion0.62526945
105MP0003632_abnormal_nervous_system0.62058528
106MP0008789_abnormal_olfactory_epithelium0.60943126
107MP0002638_abnormal_pupillary_reflex0.56878263
108MP0001986_abnormal_taste_sensitivity0.56726466
109MP0000639_abnormal_adrenal_gland0.56555640
110MP0000751_myopathy0.55763658
111MP0003195_calcinosis0.54822867
112MP0003724_increased_susceptibility_to0.54445500
113MP0004484_altered_response_of0.53277977
114MP0005167_abnormal_blood-brain_barrier0.52547180
115MP0003172_abnormal_lysosome_physiology0.51487546
116MP0003956_abnormal_body_size0.51131785
117MP0001943_abnormal_respiration0.51110792

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.12943853
2Atonic seizures (HP:0010819)5.62427408
3Febrile seizures (HP:0002373)5.51786863
4Myokymia (HP:0002411)5.27035295
5Focal seizures (HP:0007359)5.25062375
6Hyperventilation (HP:0002883)4.91328501
7* Epileptic encephalopathy (HP:0200134)4.86821309
8Absence seizures (HP:0002121)4.59253793
9Dialeptic seizures (HP:0011146)4.50655175
10Visual hallucinations (HP:0002367)4.37870467
11Abnormality of the lower motor neuron (HP:0002366)4.37261685
12Generalized tonic-clonic seizures (HP:0002069)3.99070938
13Progressive cerebellar ataxia (HP:0002073)3.89822688
14Amblyopia (HP:0000646)3.50019543
15Cerebral hypomyelination (HP:0006808)3.48389987
16Urinary urgency (HP:0000012)3.04356624
17Peripheral hypomyelination (HP:0007182)2.98760626
18Failure to thrive in infancy (HP:0001531)2.93075600
19Pheochromocytoma (HP:0002666)2.87071803
20Bilateral microphthalmos (HP:0007633)2.86880454
21Hepatoblastoma (HP:0002884)2.82792650
22Gait imbalance (HP:0002141)2.79469339
23Status epilepticus (HP:0002133)2.73483517
24Excessive salivation (HP:0003781)2.66153681
25Drooling (HP:0002307)2.66153681
26Epileptiform EEG discharges (HP:0011182)2.64948878
27Lower limb muscle weakness (HP:0007340)2.62892948
28Papilledema (HP:0001085)2.62746694
29Resting tremor (HP:0002322)2.62364804
30Clonus (HP:0002169)2.61359268
31Depression (HP:0000716)2.61115325
32Horizontal nystagmus (HP:0000666)2.60504339
33Abnormal eating behavior (HP:0100738)2.58119548
34Degeneration of the lateral corticospinal tracts (HP:0002314)2.57975375
35Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.57975375
36Gaze-evoked nystagmus (HP:0000640)2.57581584
37Dysdiadochokinesis (HP:0002075)2.57394416
38Atrophy/Degeneration involving motor neurons (HP:0007373)2.56738758
39Spastic tetraplegia (HP:0002510)2.56495613
40Neuroendocrine neoplasm (HP:0100634)2.55689628
41Broad-based gait (HP:0002136)2.54819117
42Amyotrophic lateral sclerosis (HP:0007354)2.54028552
43Intention tremor (HP:0002080)2.53573577
44Truncal ataxia (HP:0002078)2.53093423
45Hemiparesis (HP:0001269)2.52703940
46Congenital primary aphakia (HP:0007707)2.49038278
47Torticollis (HP:0000473)2.48835483
48Action tremor (HP:0002345)2.48771255
49Impaired vibration sensation in the lower limbs (HP:0002166)2.48723907
50Poor eye contact (HP:0000817)2.47665031
51EEG with generalized epileptiform discharges (HP:0011198)2.46697314
52CNS hypomyelination (HP:0003429)2.45217805
53Inability to walk (HP:0002540)2.38817913
54Generalized myoclonic seizures (HP:0002123)2.37280983
55Apathy (HP:0000741)2.36771992
56Polyphagia (HP:0002591)2.35934569
57Impaired social interactions (HP:0000735)2.33733773
58Abnormal social behavior (HP:0012433)2.33733773
59Nephrogenic diabetes insipidus (HP:0009806)2.33431865
60Impaired pain sensation (HP:0007328)2.32052661
61Abnormality of pain sensation (HP:0010832)2.32052661
62Tetraplegia (HP:0002445)2.31581116
63Abnormal hair whorl (HP:0010721)2.29708893
64Generalized hypotonia (HP:0001290)2.29533273
65Medial flaring of the eyebrow (HP:0010747)2.27998628
66Hypsarrhythmia (HP:0002521)2.27782664
67Neuronal loss in central nervous system (HP:0002529)2.26278333
68Abnormality of the labia minora (HP:0012880)2.24294568
69Diminished motivation (HP:0000745)2.23811815
70Supranuclear gaze palsy (HP:0000605)2.21672917
71Anxiety (HP:0000739)2.20370907
72Focal dystonia (HP:0004373)2.18504817
73Specific learning disability (HP:0001328)2.18403971
74Absent speech (HP:0001344)2.18052005
75Bradykinesia (HP:0002067)2.16967777
76Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.16605240
77Hypochromic microcytic anemia (HP:0004840)2.15860560
78* Muscular hypotonia of the trunk (HP:0008936)2.14587954
79Ankle clonus (HP:0011448)2.13822977
80Urinary bladder sphincter dysfunction (HP:0002839)2.13326688
81Akinesia (HP:0002304)2.11889492
82Limb dystonia (HP:0002451)2.11047438
83Abnormality of the corticospinal tract (HP:0002492)2.10663961
84Morphological abnormality of the pyramidal tract (HP:0002062)2.09260218
85Upper limb muscle weakness (HP:0003484)2.07248158
86Abnormality of binocular vision (HP:0011514)2.03609155
87Diplopia (HP:0000651)2.03609155
88Lissencephaly (HP:0001339)2.02591869
89Paraplegia (HP:0010550)2.02473323
90Dysmetria (HP:0001310)2.01622933
91Poor suck (HP:0002033)2.00782570
92Abnormality of ocular smooth pursuit (HP:0000617)2.00638811
93Dyskinesia (HP:0100660)2.00226005
94Hypoplasia of the corpus callosum (HP:0002079)1.99980394
95Hypoplasia of the fovea (HP:0007750)1.99057557
96Aplasia/Hypoplasia of the fovea (HP:0008060)1.99057557
97Impaired vibratory sensation (HP:0002495)1.97718537
98Neurofibrillary tangles (HP:0002185)1.96557037
99Sleep apnea (HP:0010535)1.95799187
100Poor coordination (HP:0002370)1.94451210
101Ulnar claw (HP:0001178)1.94078234
102Craniofacial dystonia (HP:0012179)1.92450563
103Impaired smooth pursuit (HP:0007772)1.92113754
104Oligodactyly (hands) (HP:0001180)1.92063568
105Split foot (HP:0001839)1.92032205
106Protruding tongue (HP:0010808)1.91443556
107Oligomenorrhea (HP:0000876)1.90268773
108Postural instability (HP:0002172)1.90262100
109Retinal dysplasia (HP:0007973)1.89943594
110Mutism (HP:0002300)1.89559239
111Sensory axonal neuropathy (HP:0003390)1.87168710
112Ragged-red muscle fibers (HP:0003200)1.86325240
113Fetal akinesia sequence (HP:0001989)1.86297055
114Hand muscle atrophy (HP:0009130)1.85544468
115Abnormality of glycolysis (HP:0004366)1.85519954
116Increased serum pyruvate (HP:0003542)1.85519954
117Dysmetric saccades (HP:0000641)1.85394596
118Papillary thyroid carcinoma (HP:0002895)1.83638700
119Progressive inability to walk (HP:0002505)1.83473185
120Cortical visual impairment (HP:0100704)1.81809462
121Spastic gait (HP:0002064)1.81777920
122Spastic paraplegia (HP:0001258)1.79955368
123Spastic tetraparesis (HP:0001285)1.79837635
124Progressive microcephaly (HP:0000253)1.79722178
125Scanning speech (HP:0002168)1.79619043
126Gait ataxia (HP:0002066)1.79460045
127Broad foot (HP:0001769)1.78149195
128Neoplasm of the heart (HP:0100544)1.77544253
129Primitive neuroectodermal tumor (HP:0030065)1.76718184
130Neuroblastic tumors (HP:0004376)1.76718184
131Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.76718184
132Neuroblastoma (HP:0003006)1.76718184
133Genital tract atresia (HP:0001827)1.76561611
134Central scotoma (HP:0000603)1.76440544
135Delusions (HP:0000746)1.76116885
136Vaginal atresia (HP:0000148)1.75960032
137Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.75271161
138Agitation (HP:0000713)1.74559704

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.10898434
2GRK53.69234095
3CASK3.60855617
4MAP3K93.22364234
5MAP3K43.17619430
6EPHA43.10458734
7TRIM283.06957265
8MAP2K72.86404476
9MAP2K42.63871939
10MAP3K122.60938939
11MINK12.45422751
12MARK12.43657228
13AKT32.27774220
14ERBB32.08062358
15DAPK21.96163077
16PLK21.89042906
17NTRK11.77366032
18GRK71.73266669
19PRPF4B1.69138901
20ADRBK21.68430370
21DAPK11.66794476
22PAK61.62101915
23NTRK21.61617408
24CDK191.59894768
25EPHA31.59115721
26ARAF1.56781693
27MAP4K21.54823050
28CSNK1G21.53283436
29KSR21.44334571
30CDK121.39950517
31PRKCG1.38522743
32CSNK1G31.38510994
33RIPK41.28206107
34GRK61.27359425
35CSNK1A1L1.25624160
36KSR11.21055916
37CAMKK21.21028317
38CAMKK11.19991649
39CDK51.18826353
40NME11.18194876
41CSNK1G11.12880103
42SIK31.11943111
43CCNB11.10174919
44NEK11.09607146
45TYRO31.08241631
46TSSK61.08065771
47MAPK131.07643111
48DYRK21.02150423
49MAPK71.00742937
50WNK10.98126642
51GRK10.96223660
52STK380.94231442
53LATS20.94124231
54PDK40.93715885
55PDK30.93715885
56SGK20.91576292
57ADRBK10.89949602
58SGK4940.88814424
59SGK2230.88814424
60MAP3K20.86735638
61CDK180.86672272
62CAMK2A0.85553756
63CDK140.83146802
64CAMK40.81649424
65DYRK1A0.80979653
66MOS0.80287047
67CDK150.79873109
68BRAF0.76191785
69OXSR10.72617599
70PDK20.69827356
71WNK30.69529387
72SIK20.68112997
73BMPR20.67450823
74CDK11A0.66623463
75FRK0.65493760
76INSRR0.65404664
77MATK0.64970852
78PNCK0.64198440
79MAP3K50.62926156
80UHMK10.61824563
81PRKCZ0.61372870
82LIMK10.60241471
83CAMK2B0.60061607
84PRKD30.58726730
85FES0.58327594
86PAK30.57317971
87PKN10.56576729
88TESK10.56221504
89CAMK10.56117744
90SGK30.54431394
91BCKDK0.53792109
92TAOK30.53590227
93PINK10.51254229
94NEK60.51182986
95PHKG20.50653459
96PHKG10.50653459
97PRKCE0.49802158
98TNK20.49604325
99MARK20.49178043
100MAPK120.47952523
101DYRK1B0.46286172
102MAP3K130.45512839
103PTK2B0.45265558
104MAP2K10.44895569
105BCR0.43007438
106PRKCH0.42191045
107RAF10.42056007
108RET0.40451143
109RPS6KA30.39944665
110SGK10.39846868
111PRKAA10.39831465
112PDK10.39760321
113STK110.39301228
114CAMK2G0.39042949
115LMTK20.38769137
116ALK0.38722611
117FER0.38571203
118MAPK100.37613898
119PRKACA0.36723490
120IRAK20.36718199
121MAP2K60.36683075
122CAMK2D0.34587792
123PRKACB0.33921749
124MAP3K10.33157425
125BRSK10.33142153
126CSNK1D0.32849021
127JAK20.31700974
128SRPK10.28708839
129PRKG10.28624645

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047214.22444622
2Nicotine addiction_Homo sapiens_hsa050334.18463183
3GABAergic synapse_Homo sapiens_hsa047272.99485206
4Collecting duct acid secretion_Homo sapiens_hsa049662.88717902
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75114293
6Olfactory transduction_Homo sapiens_hsa047402.56076323
7Long-term potentiation_Homo sapiens_hsa047202.46279477
8Morphine addiction_Homo sapiens_hsa050322.44958391
9Circadian entrainment_Homo sapiens_hsa047132.44651645
10Glutamatergic synapse_Homo sapiens_hsa047242.35255152
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23213844
12Amphetamine addiction_Homo sapiens_hsa050312.22174383
13Taste transduction_Homo sapiens_hsa047422.15185503
14Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.11895600
15Dopaminergic synapse_Homo sapiens_hsa047282.07618577
16Insulin secretion_Homo sapiens_hsa049111.98905155
17Salivary secretion_Homo sapiens_hsa049701.89271883
18Serotonergic synapse_Homo sapiens_hsa047261.80181798
19Vibrio cholerae infection_Homo sapiens_hsa051101.79150570
20Long-term depression_Homo sapiens_hsa047301.73011817
21Cholinergic synapse_Homo sapiens_hsa047251.54127917
22Renin secretion_Homo sapiens_hsa049241.53525111
23Calcium signaling pathway_Homo sapiens_hsa040201.46776538
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.44396762
25Oxytocin signaling pathway_Homo sapiens_hsa049211.37834566
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.37758958
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.36434214
28Cocaine addiction_Homo sapiens_hsa050301.31203016
29Gastric acid secretion_Homo sapiens_hsa049711.30927213
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.30115085
31Vitamin B6 metabolism_Homo sapiens_hsa007501.28264968
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.25143590
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24321402
34Phototransduction_Homo sapiens_hsa047441.23498750
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.22427480
36Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.22306138
37Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.20030812
38Oxidative phosphorylation_Homo sapiens_hsa001901.17861411
39GnRH signaling pathway_Homo sapiens_hsa049121.16635947
40Fructose and mannose metabolism_Homo sapiens_hsa000511.15601243
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.13728086
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10943120
43Gap junction_Homo sapiens_hsa045401.07208394
44Protein export_Homo sapiens_hsa030601.03251851
45Cardiac muscle contraction_Homo sapiens_hsa042600.98895646
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98428802
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.98342646
48cAMP signaling pathway_Homo sapiens_hsa040240.97083798
49Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95625408
50Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.93936013
51Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85372551
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.84864303
53Type II diabetes mellitus_Homo sapiens_hsa049300.84724548
54Alzheimers disease_Homo sapiens_hsa050100.77969770
55ErbB signaling pathway_Homo sapiens_hsa040120.77649006
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76376568
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.76357334
58Estrogen signaling pathway_Homo sapiens_hsa049150.74814462
59cGMP-PKG signaling pathway_Homo sapiens_hsa040220.73065009
60Parkinsons disease_Homo sapiens_hsa050120.72987162
61Type I diabetes mellitus_Homo sapiens_hsa049400.72152587
62Ether lipid metabolism_Homo sapiens_hsa005650.69194113
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.69014934
64Oocyte meiosis_Homo sapiens_hsa041140.68257131
65Glioma_Homo sapiens_hsa052140.68164808
66Regulation of autophagy_Homo sapiens_hsa041400.67460039
67Rheumatoid arthritis_Homo sapiens_hsa053230.65566787
68Inositol phosphate metabolism_Homo sapiens_hsa005620.65233121
69Melanogenesis_Homo sapiens_hsa049160.64946401
702-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.64885658
71mTOR signaling pathway_Homo sapiens_hsa041500.60071649
72Axon guidance_Homo sapiens_hsa043600.57103670
73Fatty acid elongation_Homo sapiens_hsa000620.56721788
74Phospholipase D signaling pathway_Homo sapiens_hsa040720.54187979
75Pancreatic secretion_Homo sapiens_hsa049720.52258185
76Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.50571713
77MAPK signaling pathway_Homo sapiens_hsa040100.49633407
78Circadian rhythm_Homo sapiens_hsa047100.49254805
79Choline metabolism in cancer_Homo sapiens_hsa052310.49151329
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.48453208
81Glucagon signaling pathway_Homo sapiens_hsa049220.48165357
82Galactose metabolism_Homo sapiens_hsa000520.48127838
83Thyroid hormone synthesis_Homo sapiens_hsa049180.47111876
84Huntingtons disease_Homo sapiens_hsa050160.46695923
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46361770
86beta-Alanine metabolism_Homo sapiens_hsa004100.45051308
87Phagosome_Homo sapiens_hsa041450.44670447
88Dilated cardiomyopathy_Homo sapiens_hsa054140.42247849
89Ras signaling pathway_Homo sapiens_hsa040140.42100596
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40795286
91Dorso-ventral axis formation_Homo sapiens_hsa043200.40193710
92Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37823158
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37027022
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.35829838
95Butanoate metabolism_Homo sapiens_hsa006500.35686514
96Prion diseases_Homo sapiens_hsa050200.35511658
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34506505
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33776500
99Rap1 signaling pathway_Homo sapiens_hsa040150.33485358
100Ovarian steroidogenesis_Homo sapiens_hsa049130.33417588
101Neurotrophin signaling pathway_Homo sapiens_hsa047220.32640982
102Glycerophospholipid metabolism_Homo sapiens_hsa005640.31908072
103Salmonella infection_Homo sapiens_hsa051320.31269910
104Alcoholism_Homo sapiens_hsa050340.30932230
105African trypanosomiasis_Homo sapiens_hsa051430.30926473
106Bile secretion_Homo sapiens_hsa049760.30610440
107AMPK signaling pathway_Homo sapiens_hsa041520.28354575
108Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.26922295
109Pyruvate metabolism_Homo sapiens_hsa006200.26877671
110Tuberculosis_Homo sapiens_hsa051520.25493167
111Insulin signaling pathway_Homo sapiens_hsa049100.24416600
112Central carbon metabolism in cancer_Homo sapiens_hsa052300.22925801
113Arginine biosynthesis_Homo sapiens_hsa002200.22502988
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.20211632
115Lysosome_Homo sapiens_hsa041420.20204840
116Chemokine signaling pathway_Homo sapiens_hsa040620.20002011
117Folate biosynthesis_Homo sapiens_hsa007900.17994177
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.17992494
119Prolactin signaling pathway_Homo sapiens_hsa049170.17978239
120Endocytosis_Homo sapiens_hsa041440.17765411
121Legionellosis_Homo sapiens_hsa051340.17661759
122Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.17360046

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