CADPS

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 novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.05602620
2synaptic vesicle maturation (GO:0016188)5.68514939
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.55395219
4synaptic vesicle exocytosis (GO:0016079)5.50973922
5locomotory exploration behavior (GO:0035641)5.25373453
6vocalization behavior (GO:0071625)5.22342228
7glutamate secretion (GO:0014047)5.21154075
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.16736402
9regulation of synaptic vesicle exocytosis (GO:2000300)5.09619656
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.82279021
11neuron cell-cell adhesion (GO:0007158)4.78193025
12protein localization to synapse (GO:0035418)4.72017521
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.57403101
14regulation of glutamate receptor signaling pathway (GO:1900449)4.55937559
15neuronal action potential propagation (GO:0019227)4.55295792
16neurotransmitter secretion (GO:0007269)4.55167406
17regulation of synaptic vesicle transport (GO:1902803)4.51331997
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.35869974
19exploration behavior (GO:0035640)4.26901345
20layer formation in cerebral cortex (GO:0021819)4.21542422
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.12330099
22gamma-aminobutyric acid transport (GO:0015812)4.07749055
23regulation of neuronal synaptic plasticity (GO:0048168)4.05552120
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.03795788
25glutamate receptor signaling pathway (GO:0007215)3.99987492
26synaptic transmission, glutamatergic (GO:0035249)3.97755750
27proline transport (GO:0015824)3.96828891
28cellular potassium ion homeostasis (GO:0030007)3.95813365
29neuron-neuron synaptic transmission (GO:0007270)3.88239549
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.76929193
31neurotransmitter transport (GO:0006836)3.76770405
32neuron recognition (GO:0008038)3.73235097
33regulation of synapse structural plasticity (GO:0051823)3.72612521
34neurotransmitter-gated ion channel clustering (GO:0072578)3.69142649
35long-term memory (GO:0007616)3.66870128
36dendritic spine morphogenesis (GO:0060997)3.64926814
37cerebellar Purkinje cell differentiation (GO:0021702)3.60006274
38positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.57085077
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.56312604
40activation of protein kinase A activity (GO:0034199)3.55829402
41negative regulation of cytosolic calcium ion concentration (GO:0051481)3.54122863
42positive regulation of membrane potential (GO:0045838)3.53820004
43synaptic vesicle endocytosis (GO:0048488)3.52363288
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.51325573
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.51181246
46positive regulation of synapse maturation (GO:0090129)3.50518338
47regulation of postsynaptic membrane potential (GO:0060078)3.43486053
48sodium ion export (GO:0071436)3.41920327
49regulation of neurotransmitter levels (GO:0001505)3.41862613
50pyrimidine nucleobase catabolic process (GO:0006208)3.41310315
51axonal fasciculation (GO:0007413)3.39405702
52positive regulation of synaptic transmission, GABAergic (GO:0032230)3.38352146
53regulation of neurotransmitter secretion (GO:0046928)3.37985733
54negative regulation of synaptic transmission, GABAergic (GO:0032229)3.34425909
55transmission of nerve impulse (GO:0019226)3.33924584
56innervation (GO:0060384)3.33542643
57startle response (GO:0001964)3.32956325
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.31704246
59regulation of vesicle fusion (GO:0031338)3.29824773
60neuromuscular process controlling posture (GO:0050884)3.28608493
61membrane depolarization during action potential (GO:0086010)3.27207052
62regulation of synaptic plasticity (GO:0048167)3.27069060
63behavioral response to nicotine (GO:0035095)3.25875114
64long-term synaptic potentiation (GO:0060291)3.22413125
65postsynaptic membrane organization (GO:0001941)3.21631443
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.17914015
67glycine transport (GO:0015816)3.15821960
68presynaptic membrane assembly (GO:0097105)3.15590126
69dendrite morphogenesis (GO:0048813)3.15388259
70nucleobase catabolic process (GO:0046113)3.15299933
71G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.14178010
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.13009628
73membrane hyperpolarization (GO:0060081)3.12802394
74neuromuscular process controlling balance (GO:0050885)3.12753939
75synapse assembly (GO:0007416)3.12674891
76neuronal ion channel clustering (GO:0045161)3.12215878
77regulation of neurotransmitter transport (GO:0051588)3.11433181
78vesicle transport along microtubule (GO:0047496)3.10981321
79retinal cone cell development (GO:0046549)3.10435180
80cell communication by electrical coupling (GO:0010644)3.10355772
81positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.09850059
82insulin secretion (GO:0030073)3.09549879
83membrane depolarization (GO:0051899)3.07693769
84positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.06520034
85response to auditory stimulus (GO:0010996)3.06433961
86regulation of dendritic spine morphogenesis (GO:0061001)3.05805974
87cell migration in hindbrain (GO:0021535)3.05121849
88response to histamine (GO:0034776)3.00934282
89synaptic transmission (GO:0007268)2.99947314
90presynaptic membrane organization (GO:0097090)2.98641932
91negative regulation of dendrite development (GO:2000171)2.98621936
92regulation of calcium ion-dependent exocytosis (GO:0017158)2.98369644
93auditory behavior (GO:0031223)2.97359348
94mating behavior (GO:0007617)2.96236455
95organelle transport along microtubule (GO:0072384)2.96211939
96detection of calcium ion (GO:0005513)2.94027586
97positive regulation of neurotransmitter transport (GO:0051590)2.93961444
98social behavior (GO:0035176)2.93332217
99intraspecies interaction between organisms (GO:0051703)2.93332217
100positive regulation of potassium ion transmembrane transport (GO:1901381)2.92474528
101learning (GO:0007612)2.92410053
102central nervous system myelination (GO:0022010)2.91896259
103axon ensheathment in central nervous system (GO:0032291)2.91896259
104mechanosensory behavior (GO:0007638)2.91026306
105prepulse inhibition (GO:0060134)2.89729438
106neuromuscular synaptic transmission (GO:0007274)2.89047656
107negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.87624499
108positive regulation of synaptic transmission (GO:0050806)2.86756761
109regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.86513277
110regulation of synaptic transmission (GO:0050804)2.85611643
111axon cargo transport (GO:0008088)2.85563913
112synaptic vesicle transport (GO:0048489)2.85551708
113establishment of synaptic vesicle localization (GO:0097480)2.85551708
114synapse organization (GO:0050808)2.84402641
115serotonin metabolic process (GO:0042428)2.75951517
116chemosensory behavior (GO:0007635)2.74607371
117regulation of neurotransmitter uptake (GO:0051580)2.73553638
118adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.70223654
119neuronal action potential (GO:0019228)2.69154592
120glycerophospholipid catabolic process (GO:0046475)2.69027887
121adult walking behavior (GO:0007628)2.69016394
122multicellular organismal signaling (GO:0035637)2.66079912
123potassium ion homeostasis (GO:0055075)2.59235139
124cochlea development (GO:0090102)2.58898045
125negative regulation of dendrite morphogenesis (GO:0050774)2.58698839
126cAMP-mediated signaling (GO:0019933)2.58268609
127negative regulation of hormone biosynthetic process (GO:0032353)2.56713775
128cellular potassium ion transport (GO:0071804)2.56414118
129potassium ion transmembrane transport (GO:0071805)2.56414118
130calcium ion-dependent exocytosis (GO:0017156)2.55898356
131cerebellar granule cell differentiation (GO:0021707)2.54689227

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.90650949
2GBX2_23144817_ChIP-Seq_PC3_Human3.67856853
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07840423
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99676863
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.95084375
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.80261679
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.60731667
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.60731667
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57673600
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.49480873
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49083053
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46485388
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44612685
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.44320044
15DROSHA_22980978_ChIP-Seq_HELA_Human2.42924909
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.38775836
17* RARB_27405468_Chip-Seq_BRAIN_Mouse2.34532317
18FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.32545696
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.26221735
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19674725
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.19407961
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.17189131
23* RNF2_27304074_Chip-Seq_ESCs_Mouse2.09392020
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09268655
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.02268602
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.97016369
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88086726
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.87969833
29TAF15_26573619_Chip-Seq_HEK293_Human1.85626303
30AR_21572438_ChIP-Seq_LNCaP_Human1.81704532
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75941090
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.75198807
33* ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.73881845
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.72695768
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68313237
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65641124
37MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.63213916
38ZNF274_21170338_ChIP-Seq_K562_Hela1.54721068
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.52515688
40* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51907488
41MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50265831
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.46758796
43IGF1R_20145208_ChIP-Seq_DFB_Human1.46179890
44* P300_19829295_ChIP-Seq_ESCs_Human1.43241033
45* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.42433779
46ERG_21242973_ChIP-ChIP_JURKAT_Human1.41420146
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.38697123
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36798888
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33874160
50* STAT3_23295773_ChIP-Seq_U87_Human1.31614487
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.31085806
52AR_25329375_ChIP-Seq_VCAP_Human1.30888761
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.28584705
54* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28336314
55TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28226708
56OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27244007
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26720729
58GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26500676
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.26273031
60RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.25577160
61* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25301775
62* RING1B_27294783_Chip-Seq_ESCs_Mouse1.24781564
63RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24584482
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.24566908
65FLI1_27457419_Chip-Seq_LIVER_Mouse1.23090213
66* AR_19668381_ChIP-Seq_PC3_Human1.22874782
67* BCAT_22108803_ChIP-Seq_LS180_Human1.20760380
68* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19476487
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.14909841
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14749724
71EWS_26573619_Chip-Seq_HEK293_Human1.14342629
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.13610638
73* TCF4_23295773_ChIP-Seq_U87_Human1.13466709
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13289850
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12987552
76* ER_23166858_ChIP-Seq_MCF-7_Human1.12929906
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12495252
78WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11015163
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10729818
80EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09667391
81* RNF2_27304074_Chip-Seq_NSC_Mouse1.09643525
82P53_22387025_ChIP-Seq_ESCs_Mouse1.09354409
83ARNT_22903824_ChIP-Seq_MCF-7_Human1.09252676
84YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08860036
85LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08474151
86AHR_22903824_ChIP-Seq_MCF-7_Human1.05963894
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05787196
88CBP_20019798_ChIP-Seq_JUKART_Human1.05787196
89* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05246207
90DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03377723
91RUNX2_22187159_ChIP-Seq_PCA_Human1.01209885
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00223438
93KDM2B_26808549_Chip-Seq_REH_Human1.00182631
94STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99805416
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99302370
96SMAD3_21741376_ChIP-Seq_ESCs_Human0.99234994
97FUS_26573619_Chip-Seq_HEK293_Human0.99055581
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.98560556
99ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.98395757
100MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.98069860
101CMYC_18555785_Chip-Seq_ESCs_Mouse0.97524586
102PCGF2_27294783_Chip-Seq_ESCs_Mouse0.97405879
103PRDM14_20953172_ChIP-Seq_ESCs_Human0.96324696
104VDR_22108803_ChIP-Seq_LS180_Human0.95694423
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95667293
106UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95113250
107* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94278248
108KDM2B_26808549_Chip-Seq_K562_Human0.93575683
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92534357
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92534357
111* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92468965
112* SMAD4_21741376_ChIP-Seq_HESCs_Human0.91727603
113PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90312562
114CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90185204
115* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90041027
116JUN_21703547_ChIP-Seq_K562_Human0.89787626
117EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.89196753
118TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.88646187
119TP53_16413492_ChIP-PET_HCT116_Human0.87315658
120WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87298025
121* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86937020
122NANOG_18555785_Chip-Seq_ESCs_Mouse0.86784923

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.85392088
2MP0003880_abnormal_central_pattern4.65473889
3MP0003635_abnormal_synaptic_transmissio3.98623206
4MP0004270_analgesia3.88559645
5MP0009745_abnormal_behavioral_response3.23538403
6MP0009046_muscle_twitch3.17897719
7MP0001968_abnormal_touch/_nociception3.16781602
8MP0002063_abnormal_learning/memory/cond3.14695858
9MP0002064_seizures3.07029342
10MP0005423_abnormal_somatic_nervous2.93221178
11MP0002734_abnormal_mechanical_nocicepti2.92315755
12MP0002735_abnormal_chemical_nociception2.72529406
13MP0002572_abnormal_emotion/affect_behav2.68577633
14MP0002272_abnormal_nervous_system2.65262122
15MP0001486_abnormal_startle_reflex2.46973484
16MP0002736_abnormal_nociception_after2.40170490
17MP0002733_abnormal_thermal_nociception2.28495577
18MP0001501_abnormal_sleep_pattern2.24869198
19MP0001970_abnormal_pain_threshold2.13706257
20MP0002822_catalepsy2.11258570
21MP0009780_abnormal_chondrocyte_physiolo2.09076602
22MP0006276_abnormal_autonomic_nervous2.08854843
23MP0002067_abnormal_sensory_capabilities2.07310028
24MP0001440_abnormal_grooming_behavior2.06224006
25MP0008877_abnormal_DNA_methylation1.96610640
26MP0002184_abnormal_innervation1.96236194
27MP0008569_lethality_at_weaning1.86971247
28MP0001984_abnormal_olfaction1.85332922
29MP0000778_abnormal_nervous_system1.82718407
30MP0004858_abnormal_nervous_system1.81771309
31MP0003329_amyloid_beta_deposits1.77962890
32MP0005645_abnormal_hypothalamus_physiol1.75825694
33MP0005386_behavior/neurological_phenoty1.74704759
34MP0004924_abnormal_behavior1.74704759
35MP0002557_abnormal_social/conspecific_i1.73599082
36* MP0004811_abnormal_neuron_physiology1.72976136
37MP0005646_abnormal_pituitary_gland1.71890445
38MP0003121_genomic_imprinting1.71022250
39MP0003123_paternal_imprinting1.68611120
40MP0000955_abnormal_spinal_cord1.63479704
41MP0003879_abnormal_hair_cell1.59089355
42* MP0002882_abnormal_neuron_morphology1.48341144
43* MP0002909_abnormal_adrenal_gland1.47841107
44MP0003787_abnormal_imprinting1.44580070
45MP0002066_abnormal_motor_capabilities/c1.41861418
46MP0010386_abnormal_urinary_bladder1.39249915
47MP0003122_maternal_imprinting1.38018925
48MP0005551_abnormal_eye_electrophysiolog1.37186283
49MP0001502_abnormal_circadian_rhythm1.35627600
50MP0004885_abnormal_endolymph1.33700979
51MP0003633_abnormal_nervous_system1.28907628
52MP0004142_abnormal_muscle_tone1.27628374
53MP0001529_abnormal_vocalization1.25009209
54MP0003195_calcinosis1.21353567
55MP0001905_abnormal_dopamine_level1.20440624
56MP0005379_endocrine/exocrine_gland_phen1.18372868
57MP0002229_neurodegeneration1.17082558
58MP0002102_abnormal_ear_morphology1.15436992
59MP0001188_hyperpigmentation1.14682820
60* MP0001944_abnormal_pancreas_morphology1.12748971
61MP0000569_abnormal_digit_pigmentation1.11374796
62MP0003631_nervous_system_phenotype1.08112180
63MP0002152_abnormal_brain_morphology1.08042822
64MP0004133_heterotaxia1.07243267
65MP0004145_abnormal_muscle_electrophysio1.02900927
66MP0000013_abnormal_adipose_tissue1.02786093
67MP0003283_abnormal_digestive_organ1.01956859
68MP0006292_abnormal_olfactory_placode0.99371574
69MP0006072_abnormal_retinal_apoptosis0.95859148
70MP0002638_abnormal_pupillary_reflex0.95823550
71MP0002069_abnormal_eating/drinking_beha0.93040730
72MP0008872_abnormal_physiological_respon0.92405723
73MP0002837_dystrophic_cardiac_calcinosis0.92368185
74MP0002693_abnormal_pancreas_physiology0.91909363
75MP0003634_abnormal_glial_cell0.91245264
76MP0004742_abnormal_vestibular_system0.90094146
77MP0005394_taste/olfaction_phenotype0.89166585
78MP0005499_abnormal_olfactory_system0.89166585
79MP0002752_abnormal_somatic_nervous0.88990391
80MP0000751_myopathy0.88821499
81MP0000631_abnormal_neuroendocrine_gland0.88397708
82MP0002163_abnormal_gland_morphology0.88352396
83MP0002876_abnormal_thyroid_physiology0.87662950
84MP0002090_abnormal_vision0.87299431
85MP0005535_abnormal_body_temperature0.86522371
86MP0001963_abnormal_hearing_physiology0.84647789
87MP0004085_abnormal_heartbeat0.82830670
88MP0003890_abnormal_embryonic-extraembry0.82401645
89MP0002938_white_spotting0.81475049
90MP0001986_abnormal_taste_sensitivity0.80737207
91MP0002653_abnormal_ependyma_morphology0.80329931
92MP0005195_abnormal_posterior_eye0.78462045
93MP0002928_abnormal_bile_duct0.78344375
94MP0008874_decreased_physiological_sensi0.78260920
95MP0003632_abnormal_nervous_system0.77448376
96MP0002751_abnormal_autonomic_nervous0.75206765
97MP0000026_abnormal_inner_ear0.74712845
98MP0005248_abnormal_Harderian_gland0.74697409
99MP0003119_abnormal_digestive_system0.74595419
100MP0001177_atelectasis0.74511556
101MP0000604_amyloidosis0.73924060
102MP0001299_abnormal_eye_distance/0.73019402
103MP0004215_abnormal_myocardial_fiber0.72818882
104MP0005253_abnormal_eye_physiology0.71878309
105MP0002234_abnormal_pharynx_morphology0.71741019
106MP0003183_abnormal_peptide_metabolism0.70568355
107MP0008961_abnormal_basal_metabolism0.70444393
108MP0004043_abnormal_pH_regulation0.69806154
109MP0000920_abnormal_myelination0.69196095
110MP0004233_abnormal_muscle_weight0.66782974
111MP0003690_abnormal_glial_cell0.66703066
112MP0001485_abnormal_pinna_reflex0.62643237
113MP0003137_abnormal_impulse_conducting0.59475445
114MP0005187_abnormal_penis_morphology0.59021673
115MP0001348_abnormal_lacrimal_gland0.58838497
116MP0004484_altered_response_of0.58493021
117MP0001664_abnormal_digestion0.56670217
118MP0004510_myositis0.55502025
119* MP0001943_abnormal_respiration0.54814942
120MP0003861_abnormal_nervous_system0.53808650
121MP0010769_abnormal_survival0.51663897

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.21738327
2Myokymia (HP:0002411)6.13505691
3Focal seizures (HP:0007359)5.57184439
4Visual hallucinations (HP:0002367)5.24982230
5Atonic seizures (HP:0010819)4.90121246
6Epileptic encephalopathy (HP:0200134)4.89253404
7Febrile seizures (HP:0002373)4.69971229
8Progressive cerebellar ataxia (HP:0002073)4.47188400
9Absence seizures (HP:0002121)4.43885386
10Dialeptic seizures (HP:0011146)3.99423680
11Action tremor (HP:0002345)3.93056770
12Generalized tonic-clonic seizures (HP:0002069)3.92709141
13Supranuclear gaze palsy (HP:0000605)3.87033468
14Ankle clonus (HP:0011448)3.30541842
15Broad-based gait (HP:0002136)3.27611575
16Truncal ataxia (HP:0002078)3.25627906
17Depression (HP:0000716)3.16764377
18Hyperventilation (HP:0002883)3.16003976
19Gaze-evoked nystagmus (HP:0000640)3.15533778
20Poor eye contact (HP:0000817)3.15044542
21Papilledema (HP:0001085)3.06472265
22Mutism (HP:0002300)3.01584311
23Dysdiadochokinesis (HP:0002075)3.00369897
24Impaired vibration sensation in the lower limbs (HP:0002166)2.97679426
25Abnormal social behavior (HP:0012433)2.94428085
26Impaired social interactions (HP:0000735)2.94428085
27Urinary bladder sphincter dysfunction (HP:0002839)2.92125296
28Anxiety (HP:0000739)2.88167470
29Abnormal eating behavior (HP:0100738)2.87791261
30Amblyopia (HP:0000646)2.86627238
31Pheochromocytoma (HP:0002666)2.85964233
32Dysmetria (HP:0001310)2.84707113
33Hyperinsulinemic hypoglycemia (HP:0000825)2.80684443
34Drooling (HP:0002307)2.79429597
35Excessive salivation (HP:0003781)2.79429597
36Epileptiform EEG discharges (HP:0011182)2.79301325
37Postural instability (HP:0002172)2.77210018
38Progressive inability to walk (HP:0002505)2.76700454
39Genetic anticipation (HP:0003743)2.76438488
40Intestinal atresia (HP:0011100)2.73975861
41EEG with generalized epileptiform discharges (HP:0011198)2.73149689
42Hypoglycemic seizures (HP:0002173)2.68731796
43Limb dystonia (HP:0002451)2.66714177
44Termporal pattern (HP:0011008)2.64988047
45Insidious onset (HP:0003587)2.64988047
46Hemiparesis (HP:0001269)2.59952877
47Impaired smooth pursuit (HP:0007772)2.55610626
48Spastic gait (HP:0002064)2.55287271
49Hypsarrhythmia (HP:0002521)2.55089411
50Agitation (HP:0000713)2.54483361
51Urinary urgency (HP:0000012)2.53222275
52Neuroendocrine neoplasm (HP:0100634)2.46425954
53Scanning speech (HP:0002168)2.45365257
54Neurofibrillary tangles (HP:0002185)2.44296671
55Cerebral inclusion bodies (HP:0100314)2.43910157
56Medial flaring of the eyebrow (HP:0010747)2.43898899
57Diplopia (HP:0000651)2.41457250
58Abnormality of binocular vision (HP:0011514)2.41457250
59Bradykinesia (HP:0002067)2.41443340
60Abnormality of the lower motor neuron (HP:0002366)2.39244297
61Abnormality of the corticospinal tract (HP:0002492)2.38926725
62Nephronophthisis (HP:0000090)2.37437964
63Absent speech (HP:0001344)2.34586408
64Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.31867983
65Torticollis (HP:0000473)2.30486006
66Hypoglycemic coma (HP:0001325)2.29499268
67Abnormality of midbrain morphology (HP:0002418)2.28246713
68Molar tooth sign on MRI (HP:0002419)2.28246713
69Pancreatic fibrosis (HP:0100732)2.25771181
70Ventricular fibrillation (HP:0001663)2.24291446
71Intention tremor (HP:0002080)2.24275385
72Abnormality of ocular smooth pursuit (HP:0000617)2.23457213
73Polyphagia (HP:0002591)2.22256021
74Ketoacidosis (HP:0001993)2.21938451
75Hemiplegia (HP:0002301)2.21430634
76Fetal akinesia sequence (HP:0001989)2.20171117
77Hepatoblastoma (HP:0002884)2.19006057
78Megalencephaly (HP:0001355)2.18441748
79Pancreatic cysts (HP:0001737)2.17508238
80Abnormal pancreas size (HP:0012094)2.16478877
81Congenital malformation of the right heart (HP:0011723)2.15894828
82Double outlet right ventricle (HP:0001719)2.15894828
83Inability to walk (HP:0002540)2.15014352
84Status epilepticus (HP:0002133)2.14864110
85Congenital stationary night blindness (HP:0007642)2.14790254
86Focal dystonia (HP:0004373)2.14734979
87Abnormality of the labia minora (HP:0012880)2.14084900
88Stereotypic behavior (HP:0000733)2.13671556
89Lower limb muscle weakness (HP:0007340)2.13601413
90True hermaphroditism (HP:0010459)2.12734523
91Aqueductal stenosis (HP:0002410)2.08141449
92Gait imbalance (HP:0002141)2.07431336
93Generalized myoclonic seizures (HP:0002123)2.07084037
94Hypothermia (HP:0002045)2.06716608
95Type II lissencephaly (HP:0007260)2.06588750
96Amyotrophic lateral sclerosis (HP:0007354)2.06302742
97Prolonged QT interval (HP:0001657)2.06299986
98Large for gestational age (HP:0001520)2.06282493
99Failure to thrive in infancy (HP:0001531)2.05180191
100Congenital primary aphakia (HP:0007707)2.03704742
101Bony spicule pigmentary retinopathy (HP:0007737)2.00561768
102Enlarged penis (HP:0000040)1.99731894
103Increased circulating renin level (HP:0000848)1.99199387
104Central scotoma (HP:0000603)1.98065447
105Muscular hypotonia of the trunk (HP:0008936)1.97951513
106Abnormality of the renal medulla (HP:0100957)1.97575795
107Impaired vibratory sensation (HP:0002495)1.95888815
108Polydipsia (HP:0001959)1.95685282
109Abnormal drinking behavior (HP:0030082)1.95685282
110Dysmetric saccades (HP:0000641)1.93943041
111Spastic tetraplegia (HP:0002510)1.93386999
112Blue irides (HP:0000635)1.93186140
113Nephrogenic diabetes insipidus (HP:0009806)1.91680343
114Craniofacial dystonia (HP:0012179)1.91638000
115Hyperglycemia (HP:0003074)1.91001791
116Gait ataxia (HP:0002066)1.90799584
117Hypoventilation (HP:0002791)1.90715148
118Abnormality of salivation (HP:0100755)1.89886067
119Genital tract atresia (HP:0001827)1.89050996
120Neuronal loss in central nervous system (HP:0002529)1.87957372
121Hypomagnesemia (HP:0002917)1.87476117
122Psychosis (HP:0000709)1.86731682
123Specific learning disability (HP:0001328)1.85902308
124Morphological abnormality of the pyramidal tract (HP:0002062)1.85900936
125Insomnia (HP:0100785)1.85744676
126Postural tremor (HP:0002174)1.85534183
127Inappropriate behavior (HP:0000719)1.85259877
128Optic nerve hypoplasia (HP:0000609)1.84748155
129Neoplasm of the adrenal cortex (HP:0100641)1.83378223
130Akinesia (HP:0002304)1.82758046
131Oligodactyly (hands) (HP:0001180)1.82476127
132Poor suck (HP:0002033)1.82356397
133Vaginal atresia (HP:0000148)1.82165182
134Lissencephaly (HP:0001339)1.79776877
135Insulin-resistant diabetes mellitus (HP:0000831)1.79072674
136Clonus (HP:0002169)1.79030145
137Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.78639570
138Degeneration of the lateral corticospinal tracts (HP:0002314)1.78639570
139Hyperthyroidism (HP:0000836)1.77817207
140Abnormality of macular pigmentation (HP:0008002)1.77031368
141Neoplasm of the peripheral nervous system (HP:0100007)1.76279190
142Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.76228576
143Rigidity (HP:0002063)1.74732174
144Protruding tongue (HP:0010808)1.73975211
145Syncope (HP:0001279)1.73163299
146Incomplete penetrance (HP:0003829)1.72441147
147Abnormal EKG (HP:0003115)1.72137845

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.48739389
2FRK4.41516762
3MAP3K93.82169144
4MARK13.68005184
5MAP3K43.35091001
6EPHA43.18299280
7MINK12.90622142
8MAP2K72.78276483
9PAK62.28183229
10MAP3K122.22981729
11NTRK12.15702059
12MAP2K42.13473821
13DAPK22.11621864
14NTRK22.05900483
15CASK2.02698029
16KSR21.97754286
17FGFR21.96938078
18PRKD31.91986882
19CAMKK11.66336674
20PNCK1.64148444
21RIPK41.61420143
22GRK51.58221691
23CDK51.53288323
24MAPK131.48273871
25KSR11.44378936
26ADRBK21.42788519
27PLK21.40525959
28MAP3K21.38722552
29MAP4K21.35762230
30STK381.33561697
31TNIK1.30623300
32DAPK11.29335632
33UHMK11.26992937
34PHKG11.26254543
35PHKG21.26254543
36GRK11.23842589
37SIK21.23186200
38PRKCG1.21658177
39CDK191.16497700
40CAMKK21.15122905
41ARAF1.10653219
42DYRK21.10551038
43LATS21.08431213
44FES1.02668567
45CAMK2A1.00205066
46RET0.99948015
47PRPF4B0.99569129
48BMPR1B0.99389839
49SGK2230.95485722
50SGK4940.95485722
51PAK30.89776388
52STK110.88948685
53PRKCH0.87087535
54CSNK1G10.87033445
55CDK140.85574912
56LMTK20.85546754
57CDK180.84843514
58CSNK1G20.84312159
59CSNK1G30.83569904
60CDK150.82942930
61SGK20.78857617
62CAMK2B0.78837249
63STK390.78156696
64WNK30.76621180
65DYRK1A0.76209085
66CAMK10.75806852
67SCYL20.75709021
68TYRO30.74998475
69MAP3K130.74228479
70MKNK20.72358990
71STK38L0.71602767
72CDK11A0.70936743
73WNK10.70492961
74TAOK10.70291146
75PINK10.69927416
76OXSR10.67997073
77ACVR1B0.67728297
78MAP3K10.66590347
79CDC42BPA0.65443081
80BMPR20.65294045
81SGK30.63552709
82SGK10.63212542
83PRKCE0.62736214
84AKT30.61668604
85CAMK2D0.60236343
86ALK0.60208516
87NME10.58627157
88MARK20.58061573
89PRKCZ0.56861279
90INSRR0.56497765
91CAMK1G0.56408121
92PRKAA10.56293400
93PDK10.55104674
94FER0.54930185
95MAP2K60.54109661
96MAP3K60.53345519
97CSNK1D0.52303675
98CSNK1A10.51150016
99RAF10.50723237
100ERBB20.50539872
101PRKG10.50228481
102PRKACA0.49689542
103RPS6KA30.48254070
104PDPK10.48028208
105PTK2B0.48024436
106CAMK2G0.47961868
107CAMK40.47853918
108MAPK100.46353007
109TNK20.45766753
110PASK0.45463253
111CSNK1A1L0.44779731
112CSNK1E0.44652875
113ADRBK10.44244565
114ERBB30.44210763
115MAP2K10.43160351
116FYN0.40897815
117RPS6KA20.40875617
118CCNB10.36841214
119PRKCB0.36250859
120NEK60.35711974
121BCR0.35106862
122MAPKAPK50.34864985
123PRKCA0.34761797
124CDK30.34337494
125WNK40.33626302
126HIPK20.32907639
127ROCK10.32856455
128PRKACB0.32755981
129PKN10.32070809
130ROCK20.31793036
131TRIM280.31391263
132PRKCI0.31182378

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.67743400
2Synaptic vesicle cycle_Homo sapiens_hsa047213.49213147
3Maturity onset diabetes of the young_Homo sapiens_hsa049503.47259975
4GABAergic synapse_Homo sapiens_hsa047272.81147999
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.67756239
6Olfactory transduction_Homo sapiens_hsa047402.61438428
7Circadian entrainment_Homo sapiens_hsa047132.60315918
8Long-term potentiation_Homo sapiens_hsa047202.53947993
9Glutamatergic synapse_Homo sapiens_hsa047242.48397562
10Morphine addiction_Homo sapiens_hsa050322.44789541
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.35670330
12Amphetamine addiction_Homo sapiens_hsa050312.34854609
13Insulin secretion_Homo sapiens_hsa049112.25566992
14Dopaminergic synapse_Homo sapiens_hsa047282.19398935
15Salivary secretion_Homo sapiens_hsa049702.08349003
16Taste transduction_Homo sapiens_hsa047421.91741645
17Cholinergic synapse_Homo sapiens_hsa047251.90817592
18Gastric acid secretion_Homo sapiens_hsa049711.79464089
19Serotonergic synapse_Homo sapiens_hsa047261.73977656
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.72837955
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.70334430
22Butanoate metabolism_Homo sapiens_hsa006501.67467779
23Long-term depression_Homo sapiens_hsa047301.66018222
24Renin secretion_Homo sapiens_hsa049241.64776530
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62191560
26Collecting duct acid secretion_Homo sapiens_hsa049661.62159656
27Cocaine addiction_Homo sapiens_hsa050301.60118814
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54281680
29Oxytocin signaling pathway_Homo sapiens_hsa049211.51798559
30Calcium signaling pathway_Homo sapiens_hsa040201.44545881
31GnRH signaling pathway_Homo sapiens_hsa049121.39290260
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37702566
33Phototransduction_Homo sapiens_hsa047441.35227339
34Type II diabetes mellitus_Homo sapiens_hsa049301.34354502
35Gap junction_Homo sapiens_hsa045401.30934400
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29747672
37Vitamin B6 metabolism_Homo sapiens_hsa007501.29614888
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.20979034
39cAMP signaling pathway_Homo sapiens_hsa040241.18254418
40Vibrio cholerae infection_Homo sapiens_hsa051101.17784588
41Estrogen signaling pathway_Homo sapiens_hsa049151.15173050
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.15059015
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14506133
44Protein export_Homo sapiens_hsa030601.08129173
45Glioma_Homo sapiens_hsa052141.04991427
46Axon guidance_Homo sapiens_hsa043601.04110279
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01909051
48Cardiac muscle contraction_Homo sapiens_hsa042601.00923360
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99749259
50ErbB signaling pathway_Homo sapiens_hsa040120.98304766
51Melanogenesis_Homo sapiens_hsa049160.96592980
52Pancreatic secretion_Homo sapiens_hsa049720.92378906
53Dorso-ventral axis formation_Homo sapiens_hsa043200.91906583
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.89644734
55Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86732460
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.84201026
57Thyroid hormone synthesis_Homo sapiens_hsa049180.83184038
58Oocyte meiosis_Homo sapiens_hsa041140.81329836
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77007191
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.76890220
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.75274352
62Type I diabetes mellitus_Homo sapiens_hsa049400.74721602
63Ether lipid metabolism_Homo sapiens_hsa005650.72001650
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70353687
65MAPK signaling pathway_Homo sapiens_hsa040100.68919367
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.67819064
67Choline metabolism in cancer_Homo sapiens_hsa052310.67669910
68Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67316782
69Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.67292544
70Dilated cardiomyopathy_Homo sapiens_hsa054140.66146497
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66031847
72Tryptophan metabolism_Homo sapiens_hsa003800.64697202
73Regulation of autophagy_Homo sapiens_hsa041400.64127950
74Glucagon signaling pathway_Homo sapiens_hsa049220.62713256
75Parkinsons disease_Homo sapiens_hsa050120.62387353
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.61220159
77Circadian rhythm_Homo sapiens_hsa047100.57741288
78Mineral absorption_Homo sapiens_hsa049780.56615935
79mTOR signaling pathway_Homo sapiens_hsa041500.56382791
80Ras signaling pathway_Homo sapiens_hsa040140.55872511
81Linoleic acid metabolism_Homo sapiens_hsa005910.54865183
82Alcoholism_Homo sapiens_hsa050340.54803081
83VEGF signaling pathway_Homo sapiens_hsa043700.54335995
84Nitrogen metabolism_Homo sapiens_hsa009100.53349450
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53113334
86Inositol phosphate metabolism_Homo sapiens_hsa005620.51987796
87beta-Alanine metabolism_Homo sapiens_hsa004100.51625511
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51157460
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.49917374
90ABC transporters_Homo sapiens_hsa020100.49914118
91alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.49801465
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47718846
93Alzheimers disease_Homo sapiens_hsa050100.47096033
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46586848
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46035607
96Rap1 signaling pathway_Homo sapiens_hsa040150.45970746
97Endometrial cancer_Homo sapiens_hsa052130.45230677
98Insulin signaling pathway_Homo sapiens_hsa049100.44675398
99Endocytosis_Homo sapiens_hsa041440.44183613
100Propanoate metabolism_Homo sapiens_hsa006400.43984838
101Bile secretion_Homo sapiens_hsa049760.43579512
102Hedgehog signaling pathway_Homo sapiens_hsa043400.42764296
103Folate biosynthesis_Homo sapiens_hsa007900.42091532
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42077828
105Prion diseases_Homo sapiens_hsa050200.40223717
106Renal cell carcinoma_Homo sapiens_hsa052110.39682164
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38712361
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38564428
109Wnt signaling pathway_Homo sapiens_hsa043100.37959165
110Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37604538
111Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37572815
112Ovarian steroidogenesis_Homo sapiens_hsa049130.33257756
113Peroxisome_Homo sapiens_hsa041460.32189416
114Non-small cell lung cancer_Homo sapiens_hsa052230.32175172
115Tight junction_Homo sapiens_hsa045300.30854595
116Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.30229638
117Hippo signaling pathway_Homo sapiens_hsa043900.29866052
118Selenocompound metabolism_Homo sapiens_hsa004500.28945125
119Oxidative phosphorylation_Homo sapiens_hsa001900.28683198
120Primary bile acid biosynthesis_Homo sapiens_hsa001200.28568689
121Prolactin signaling pathway_Homo sapiens_hsa049170.27931016
122African trypanosomiasis_Homo sapiens_hsa051430.27895478
123Chemokine signaling pathway_Homo sapiens_hsa040620.26815064
124Fatty acid metabolism_Homo sapiens_hsa012120.26206073
125Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25644710
126Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25269563

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