KCNIP1

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 member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. 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)4.94933508
2synaptic vesicle exocytosis (GO:0016079)4.92879790
3vocalization behavior (GO:0071625)4.87551085
4neuron cell-cell adhesion (GO:0007158)4.75315655
5neuronal action potential propagation (GO:0019227)4.57319123
6regulation of synaptic vesicle exocytosis (GO:2000300)4.54010609
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.53492630
8pyrimidine nucleobase catabolic process (GO:0006208)4.37219270
9neurotransmitter secretion (GO:0007269)4.20510451
10regulation of synaptic vesicle transport (GO:1902803)4.08678289
11negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.00959619
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.95279513
13auditory behavior (GO:0031223)3.93623609
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.92801924
15synaptic vesicle maturation (GO:0016188)3.92563197
16regulation of glutamate receptor signaling pathway (GO:1900449)3.91459720
17nucleobase catabolic process (GO:0046113)3.86935206
18response to auditory stimulus (GO:0010996)3.86461020
19protein localization to synapse (GO:0035418)3.85339807
20startle response (GO:0001964)3.82241322
21locomotory exploration behavior (GO:0035641)3.81872089
22cellular potassium ion homeostasis (GO:0030007)3.73284285
23positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.72163199
24regulation of synapse structural plasticity (GO:0051823)3.69437649
25response to pheromone (GO:0019236)3.62977309
26C4-dicarboxylate transport (GO:0015740)3.58672655
27glutamate secretion (GO:0014047)3.52800041
28gamma-aminobutyric acid transport (GO:0015812)3.48570059
29negative regulation of catecholamine secretion (GO:0033604)3.46877437
30negative regulation of synaptic transmission, GABAergic (GO:0032229)3.46449894
31neurotransmitter transport (GO:0006836)3.42546583
32postsynaptic membrane organization (GO:0001941)3.40551884
33neurofilament cytoskeleton organization (GO:0060052)3.40202920
34presynaptic membrane assembly (GO:0097105)3.39681696
35neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.38738818
36ionotropic glutamate receptor signaling pathway (GO:0035235)3.36872534
37behavioral response to nicotine (GO:0035095)3.36362954
38cerebellar Purkinje cell differentiation (GO:0021702)3.34529387
39righting reflex (GO:0060013)3.33712909
40mechanosensory behavior (GO:0007638)3.32786035
41neuromuscular process controlling posture (GO:0050884)3.31597597
42neurotransmitter-gated ion channel clustering (GO:0072578)3.28323450
43synaptic transmission, glutamatergic (GO:0035249)3.25692636
44insulin secretion (GO:0030073)3.25128619
45G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.24660080
46neuron-neuron synaptic transmission (GO:0007270)3.23975803
47regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.21445052
48positive regulation of synaptic transmission, GABAergic (GO:0032230)3.19028424
49negative regulation of cytosolic calcium ion concentration (GO:0051481)3.18257581
50ATP hydrolysis coupled proton transport (GO:0015991)3.18201786
51energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.18201786
52adult walking behavior (GO:0007628)3.17872198
53regulation of respiratory system process (GO:0044065)3.17818983
54exploration behavior (GO:0035640)3.17355796
55glycosphingolipid biosynthetic process (GO:0006688)3.17184906
56regulation of voltage-gated calcium channel activity (GO:1901385)3.14435065
57neuron recognition (GO:0008038)3.14362766
58establishment of mitochondrion localization (GO:0051654)3.14219605
59presynaptic membrane organization (GO:0097090)3.13978780
60regulation of penile erection (GO:0060405)3.13767573
61central nervous system myelination (GO:0022010)3.13577940
62axon ensheathment in central nervous system (GO:0032291)3.13577940
63gamma-aminobutyric acid signaling pathway (GO:0007214)3.13532406
64proline transport (GO:0015824)3.13453165
65regulation of vesicle fusion (GO:0031338)3.10851565
66regulation of neuronal synaptic plasticity (GO:0048168)3.10515767
67* detection of calcium ion (GO:0005513)3.08166605
68regulation of synaptic transmission, GABAergic (GO:0032228)3.07628721
69potassium ion homeostasis (GO:0055075)3.07196693
70membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.07196055
71positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.06867031
72transmission of nerve impulse (GO:0019226)3.05436185
73calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.02741602
74synapse organization (GO:0050808)3.01632042
75glutamate receptor signaling pathway (GO:0007215)3.01375073
76regulation of neurotransmitter levels (GO:0001505)3.00031705
77positive regulation of membrane potential (GO:0045838)2.99956701
78cerebellar Purkinje cell layer development (GO:0021680)2.98407693
79positive regulation of synapse assembly (GO:0051965)2.97897255
80synapse assembly (GO:0007416)2.97545634
81signal release (GO:0023061)2.93609656
82transferrin transport (GO:0033572)2.92594508
83negative regulation of dendrite development (GO:2000171)2.92267863
84regulation of long-term neuronal synaptic plasticity (GO:0048169)2.91494640
85layer formation in cerebral cortex (GO:0021819)2.89369661
86positive regulation of dendritic spine development (GO:0060999)2.88230036
87potassium ion import (GO:0010107)2.87844071
88membrane hyperpolarization (GO:0060081)2.87205450
89activation of protein kinase A activity (GO:0034199)2.87200105
90sodium ion export (GO:0071436)2.86663442
91synaptic transmission, cholinergic (GO:0007271)2.85814605
92dendrite morphogenesis (GO:0048813)2.85277321
93regulation of calcium ion-dependent exocytosis (GO:0017158)2.85033770
94neuromuscular synaptic transmission (GO:0007274)2.85008302
95synaptic vesicle transport (GO:0048489)2.84346117
96establishment of synaptic vesicle localization (GO:0097480)2.84346117
97cerebellar granule cell differentiation (GO:0021707)2.84251895
98behavioral response to ethanol (GO:0048149)2.83135863
99short-term memory (GO:0007614)2.82503761
100COPI coating of Golgi vesicle (GO:0048205)2.81697768
101Golgi transport vesicle coating (GO:0048200)2.81697768
102positive regulation of synapse maturation (GO:0090129)2.81492238
103regulation of neurotransmitter transport (GO:0051588)2.81260602
104positive regulation of potassium ion transmembrane transport (GO:1901381)2.80177037
105synaptic vesicle endocytosis (GO:0048488)2.79647075
106ferric iron transport (GO:0015682)2.79279896
107trivalent inorganic cation transport (GO:0072512)2.79279896
108negative regulation of norepinephrine secretion (GO:0010700)2.78832281
109ER overload response (GO:0006983)2.78327148
110glycerophospholipid catabolic process (GO:0046475)2.78226425
111membrane depolarization (GO:0051899)2.77603440
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.76783686
113long-term memory (GO:0007616)2.76543457
114L-amino acid import (GO:0043092)2.76270568
115regulation of exocytosis (GO:0017157)2.75640084
116long-term synaptic potentiation (GO:0060291)2.75347404
117adaptation of signaling pathway (GO:0023058)2.75189526
118acidic amino acid transport (GO:0015800)2.75080997
119succinate metabolic process (GO:0006105)2.74550835
120calcium ion-dependent exocytosis (GO:0017156)2.74392201
121adult behavior (GO:0030534)2.72900928
122neurotransmitter uptake (GO:0001504)2.72894840
123regulation of neurotransmitter uptake (GO:0051580)2.72285147
124axonal fasciculation (GO:0007413)2.71844978
125positive regulation of amino acid transport (GO:0051957)2.70766012
126dendritic spine morphogenesis (GO:0060997)2.70271619
127positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.69466093
128neuronal ion channel clustering (GO:0045161)2.69455158
129regulation of neurotransmitter secretion (GO:0046928)2.69296460
130striatum development (GO:0021756)2.68094427
131negative regulation of amine transport (GO:0051953)2.68016399
132regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.66845896
133regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.66587295
134regulation of glucocorticoid secretion (GO:2000849)2.66078953
135synaptic vesicle docking involved in exocytosis (GO:0016081)2.65707744
136establishment of vesicle localization (GO:0051650)2.65423030
137membrane depolarization during action potential (GO:0086010)2.65171678
138regulation of synapse assembly (GO:0051963)2.64738026
139regulation of excitatory postsynaptic membrane potential (GO:0060079)2.64261296
140regulation of synaptic transmission, glutamatergic (GO:0051966)2.63300792
141cell communication by electrical coupling (GO:0010644)2.63128410
142regulation of postsynaptic membrane potential (GO:0060078)2.61227751
143positive regulation of exocytosis (GO:0045921)2.60818532

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EZH2_22144423_ChIP-Seq_EOC_Human5.71929804
2GBX2_23144817_ChIP-Seq_PC3_Human3.95026496
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.89292936
4* REST_21632747_ChIP-Seq_MESCs_Mouse2.80653266
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.73731234
6* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71246628
7CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.49992376
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43668899
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.41861476
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37628232
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.35135588
12* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34786203
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28502582
14* REST_18959480_ChIP-ChIP_MESCs_Mouse2.26383709
15RNF2_18974828_ChIP-Seq_MESCs_Mouse2.25964432
16EZH2_18974828_ChIP-Seq_MESCs_Mouse2.25964432
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.24788067
18* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.22111722
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.14299400
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13224436
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.12631857
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.10582499
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08185084
24IGF1R_20145208_ChIP-Seq_DFB_Human2.06578063
25* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03714497
26BMI1_23680149_ChIP-Seq_NPCS_Mouse2.03181459
27TAF15_26573619_Chip-Seq_HEK293_Human1.98602371
28ZFP57_27257070_Chip-Seq_ESCs_Mouse1.98390705
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.90651293
30DROSHA_22980978_ChIP-Seq_HELA_Human1.90090024
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82158428
32* RARB_27405468_Chip-Seq_BRAIN_Mouse1.78452969
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.76413353
34ZNF274_21170338_ChIP-Seq_K562_Hela1.71190996
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70783108
36AR_21572438_ChIP-Seq_LNCaP_Human1.68202247
37P300_19829295_ChIP-Seq_ESCs_Human1.65805317
38FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.64818911
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.54779429
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.54222679
41IKZF1_21737484_ChIP-ChIP_HCT116_Human1.53803369
42PIAS1_25552417_ChIP-Seq_VCAP_Human1.52981939
43TOP2B_26459242_ChIP-Seq_MCF-7_Human1.52690231
44HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.51520660
45RNF2_27304074_Chip-Seq_NSC_Mouse1.48472288
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47255664
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46885494
48* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.46407403
49RBPJ_22232070_ChIP-Seq_NCS_Mouse1.44866492
50VDR_22108803_ChIP-Seq_LS180_Human1.39279748
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39087051
52ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.38485084
53* AR_25329375_ChIP-Seq_VCAP_Human1.38071599
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36558100
55STAT3_23295773_ChIP-Seq_U87_Human1.35959909
56* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34424605
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.34322681
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33422236
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30792721
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28468427
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22654433
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20975057
63SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20594039
64* TCF4_23295773_ChIP-Seq_U87_Human1.15992901
65* RUNX2_22187159_ChIP-Seq_PCA_Human1.15273504
66* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.14998861
67* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14534884
68ER_23166858_ChIP-Seq_MCF-7_Human1.13431298
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.12819464
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12768251
71NANOG_18555785_Chip-Seq_ESCs_Mouse1.12251055
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12206370
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10998496
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10767799
75* AR_19668381_ChIP-Seq_PC3_Human1.10514535
76TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10442178
77TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10119105
78BCAT_22108803_ChIP-Seq_LS180_Human1.09817402
79GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08376268
80FUS_26573619_Chip-Seq_HEK293_Human1.07406726
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05801484
82RING1B_27294783_Chip-Seq_ESCs_Mouse1.05753745
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04519817
84UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02226290
85TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01963029
86MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00251170
87* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99601555
88* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98825748
89STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97526778
90* SMAD3_21741376_ChIP-Seq_ESCs_Human0.97519545
91TAL1_26923725_Chip-Seq_HPCs_Mouse0.96474129
92ARNT_22903824_ChIP-Seq_MCF-7_Human0.96066275
93* JUN_21703547_ChIP-Seq_K562_Human0.95789835
94AHR_22903824_ChIP-Seq_MCF-7_Human0.94424807
95* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94315694
96* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94182368
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93938432
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93938432
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92423873
100ERG_21242973_ChIP-ChIP_JURKAT_Human0.92065636
101P53_22387025_ChIP-Seq_ESCs_Mouse0.91688777
102CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91579796
103CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.91329391
104FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90944488
105* KDM2B_26808549_Chip-Seq_REH_Human0.90872519
106* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90460509
107EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90025492
108* REST_19997604_ChIP-ChIP_NEURONS_Mouse0.89864803
109* FLI1_21867929_ChIP-Seq_TH2_Mouse0.88501573
110CBP_20019798_ChIP-Seq_JUKART_Human0.87900775
111EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.87843413

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.55041482
2MP0003880_abnormal_central_pattern3.30486241
3MP0003635_abnormal_synaptic_transmissio3.24891154
4MP0005645_abnormal_hypothalamus_physiol2.89671951
5MP0010386_abnormal_urinary_bladder2.85530791
6MP0004270_analgesia2.83956568
7MP0006276_abnormal_autonomic_nervous2.81422933
8MP0009780_abnormal_chondrocyte_physiolo2.76827975
9MP0009046_muscle_twitch2.73312141
10MP0003122_maternal_imprinting2.62549474
11MP0002064_seizures2.60690631
12MP0009745_abnormal_behavioral_response2.59202345
13MP0002063_abnormal_learning/memory/cond2.52903960
14MP0000013_abnormal_adipose_tissue2.46394667
15MP0002837_dystrophic_cardiac_calcinosis2.42098677
16MP0002734_abnormal_mechanical_nocicepti2.41805499
17MP0005646_abnormal_pituitary_gland2.38094007
18MP0004043_abnormal_pH_regulation2.37926005
19MP0002909_abnormal_adrenal_gland2.37644989
20MP0002572_abnormal_emotion/affect_behav2.35527680
21MP0002735_abnormal_chemical_nociception2.32756302
22MP0005423_abnormal_somatic_nervous2.29568084
23MP0002272_abnormal_nervous_system2.29512008
24MP0001968_abnormal_touch/_nociception2.17813913
25MP0002822_catalepsy2.01679312
26MP0002733_abnormal_thermal_nociception1.99645874
27MP0001986_abnormal_taste_sensitivity1.97962731
28MP0003283_abnormal_digestive_organ1.97016188
29MP0001188_hyperpigmentation1.96965575
30MP0001486_abnormal_startle_reflex1.96481686
31MP0002184_abnormal_innervation1.96324782
32MP0001501_abnormal_sleep_pattern1.87628944
33MP0001970_abnormal_pain_threshold1.86976629
34MP0001984_abnormal_olfaction1.85738352
35MP0002557_abnormal_social/conspecific_i1.83511441
36MP0002067_abnormal_sensory_capabilities1.81339126
37MP0002638_abnormal_pupillary_reflex1.80962354
38MP0001440_abnormal_grooming_behavior1.77822493
39MP0005379_endocrine/exocrine_gland_phen1.75438669
40MP0001502_abnormal_circadian_rhythm1.68888395
41MP0004142_abnormal_muscle_tone1.65945576
42MP0003787_abnormal_imprinting1.64888327
43MP0003183_abnormal_peptide_metabolism1.60600116
44MP0002693_abnormal_pancreas_physiology1.56020242
45MP0008569_lethality_at_weaning1.53087113
46MP0002736_abnormal_nociception_after1.50464531
47MP0006072_abnormal_retinal_apoptosis1.49379560
48MP0000955_abnormal_spinal_cord1.49124365
49MP0002876_abnormal_thyroid_physiology1.47373148
50MP0005386_behavior/neurological_phenoty1.45957281
51MP0004924_abnormal_behavior1.45957281
52MP0001529_abnormal_vocalization1.42030698
53MP0008877_abnormal_DNA_methylation1.40576849
54MP0001944_abnormal_pancreas_morphology1.37230518
55MP0000778_abnormal_nervous_system1.37195331
56MP0003879_abnormal_hair_cell1.33310819
57MP0004811_abnormal_neuron_physiology1.29603274
58MP0001485_abnormal_pinna_reflex1.24235104
59MP0002066_abnormal_motor_capabilities/c1.23576731
60MP0002882_abnormal_neuron_morphology1.22869258
61MP0000631_abnormal_neuroendocrine_gland1.21143441
62MP0002877_abnormal_melanocyte_morpholog1.16468307
63MP0003121_genomic_imprinting1.14693492
64MP0004858_abnormal_nervous_system1.14471924
65MP0000678_abnormal_parathyroid_gland1.09352238
66MP0002163_abnormal_gland_morphology1.04583917
67MP0004133_heterotaxia1.03869448
68MP0004885_abnormal_endolymph1.02850049
69MP0002078_abnormal_glucose_homeostasis1.02597245
70MP0005551_abnormal_eye_electrophysiolog0.99925894
71MP0002069_abnormal_eating/drinking_beha0.99544227
72MP0002229_neurodegeneration0.99497395
73MP0003690_abnormal_glial_cell0.97640416
74MP0004742_abnormal_vestibular_system0.96203067
75MP0002653_abnormal_ependyma_morphology0.95510988
76MP0003329_amyloid_beta_deposits0.95252320
77MP0005535_abnormal_body_temperature0.92709933
78MP0000569_abnormal_digit_pigmentation0.91916495
79MP0003136_yellow_coat_color0.91394061
80MP0003195_calcinosis0.88763087
81MP0003123_paternal_imprinting0.87739483
82MP0002152_abnormal_brain_morphology0.84675752
83MP0003938_abnormal_ear_development0.84067798
84MP0003632_abnormal_nervous_system0.84023427
85MP0002234_abnormal_pharynx_morphology0.83598090
86MP0003011_delayed_dark_adaptation0.83453118
87MP0001963_abnormal_hearing_physiology0.83152348
88MP0002102_abnormal_ear_morphology0.81898753
89MP0006292_abnormal_olfactory_placode0.81456977
90MP0004085_abnormal_heartbeat0.81441809
91MP0005253_abnormal_eye_physiology0.80933944
92MP0004147_increased_porphyrin_level0.80863763
93MP0000566_synostosis0.79937998
94MP0003633_abnormal_nervous_system0.79836781
95MP0000003_abnormal_adipose_tissue0.79520108
96MP0005171_absent_coat_pigmentation0.78807819
97MP0003953_abnormal_hormone_level0.78740187
98MP0008961_abnormal_basal_metabolism0.78426692
99MP0003634_abnormal_glial_cell0.77656453
100MP0003861_abnormal_nervous_system0.76318271
101MP0000920_abnormal_myelination0.75333370
102MP0001664_abnormal_digestion0.73930308
103MP0003172_abnormal_lysosome_physiology0.73048695
104MP0001905_abnormal_dopamine_level0.72682687
105MP0003137_abnormal_impulse_conducting0.72441261
106MP0002752_abnormal_somatic_nervous0.70917988
107MP0001765_abnormal_ion_homeostasis0.70099392
108MP0005195_abnormal_posterior_eye0.69639050
109MP0001299_abnormal_eye_distance/0.69440428
110MP0001270_distended_abdomen0.67958967
111MP0005448_abnormal_energy_balance0.67753032
112MP0005248_abnormal_Harderian_gland0.66957733
113MP0002751_abnormal_autonomic_nervous0.65473151
114MP0003890_abnormal_embryonic-extraembry0.65269823
115MP0000015_abnormal_ear_pigmentation0.65247378
116MP0002938_white_spotting0.64378717
117MP0003119_abnormal_digestive_system0.63950650
118MP0008789_abnormal_olfactory_epithelium0.63328754
119MP0005499_abnormal_olfactory_system0.61446321
120MP0005394_taste/olfaction_phenotype0.61446321
121MP0000026_abnormal_inner_ear0.60849965
122MP0003631_nervous_system_phenotype0.60647711
123MP0001177_atelectasis0.60610733
124MP0003959_abnormal_lean_body0.59449775
125MP0004145_abnormal_muscle_electrophysio0.59281461

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.28631228
2Atonic seizures (HP:0010819)5.02185633
3Febrile seizures (HP:0002373)4.66563796
4Visual hallucinations (HP:0002367)4.48238914
5Focal seizures (HP:0007359)4.16518658
6Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.92080430
7Absence seizures (HP:0002121)3.91912702
8Progressive cerebellar ataxia (HP:0002073)3.82651112
9Epileptic encephalopathy (HP:0200134)3.81339032
10Myokymia (HP:0002411)3.67724111
11Abnormality of the corticospinal tract (HP:0002492)3.63632859
12Dialeptic seizures (HP:0011146)3.46398189
13Decreased circulating renin level (HP:0003351)3.43319245
14Hyperventilation (HP:0002883)3.42743574
15Pheochromocytoma (HP:0002666)3.38824691
16Agitation (HP:0000713)3.33688117
17Generalized tonic-clonic seizures (HP:0002069)3.28765580
18Failure to thrive in infancy (HP:0001531)3.26651558
19Hypoglycemic seizures (HP:0002173)3.23429822
20Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.19059636
21Degeneration of the lateral corticospinal tracts (HP:0002314)3.19059636
22Neuroendocrine neoplasm (HP:0100634)3.14240404
23Gait imbalance (HP:0002141)3.13024319
24Hyperinsulinemic hypoglycemia (HP:0000825)3.09878143
25Symptomatic seizures (HP:0011145)2.98811456
26Hemiplegia (HP:0002301)2.96902957
27Abnormality of calcium-phosphate metabolism (HP:0100530)2.84988506
28Polyphagia (HP:0002591)2.83729371
29EEG with generalized epileptiform discharges (HP:0011198)2.83478222
30Congenital primary aphakia (HP:0007707)2.81562060
31Epileptiform EEG discharges (HP:0011182)2.80857569
32Abnormal hair whorl (HP:0010721)2.80545716
33Medial flaring of the eyebrow (HP:0010747)2.74660998
34Hypsarrhythmia (HP:0002521)2.73546636
35Oligomenorrhea (HP:0000876)2.67865108
36Nephrogenic diabetes insipidus (HP:0009806)2.65772832
37Intention tremor (HP:0002080)2.63423422
38Status epilepticus (HP:0002133)2.61628106
39Anxiety (HP:0000739)2.57049259
40Hypothermia (HP:0002045)2.53268573
41Abnormal eating behavior (HP:0100738)2.52676940
42Truncal ataxia (HP:0002078)2.52463227
43Spastic gait (HP:0002064)2.47580583
44Urinary urgency (HP:0000012)2.46192767
45Poor suck (HP:0002033)2.46149536
46Hepatoblastoma (HP:0002884)2.44433227
47Urinary bladder sphincter dysfunction (HP:0002839)2.43850341
48Progressive inability to walk (HP:0002505)2.40938764
49Absent speech (HP:0001344)2.36396188
50Action tremor (HP:0002345)2.32626159
51Depression (HP:0000716)2.31883903
52Hyperactive renin-angiotensin system (HP:0000841)2.30272715
53Morphological abnormality of the pyramidal tract (HP:0002062)2.29920115
54Vaginal atresia (HP:0000148)2.25079619
55Genital tract atresia (HP:0001827)2.24248397
56Supranuclear gaze palsy (HP:0000605)2.24118957
57Limb dystonia (HP:0002451)2.22444395
58Abnormality of the labia minora (HP:0012880)2.22400514
59Gaze-evoked nystagmus (HP:0000640)2.19098290
60Hyperglycemia (HP:0003074)2.18510855
61Acute necrotizing encephalopathy (HP:0006965)2.16159449
62Dysdiadochokinesis (HP:0002075)2.14340804
63Specific learning disability (HP:0001328)2.13010332
64Abnormal mitochondria in muscle tissue (HP:0008316)2.11258871
65Blue irides (HP:0000635)2.11160104
66Insulin-resistant diabetes mellitus (HP:0000831)2.10964011
67Oligodactyly (hands) (HP:0001180)2.09161229
68Impaired vibratory sensation (HP:0002495)2.08656236
69Aplasia/Hypoplasia of the lens (HP:0008063)2.08126387
70Lissencephaly (HP:0001339)2.05963066
71Torticollis (HP:0000473)2.05691963
72Ankle clonus (HP:0011448)2.05631813
73Abnormality of renin-angiotensin system (HP:0000847)2.03572117
74Impaired vibration sensation in the lower limbs (HP:0002166)2.03437571
75Ulnar claw (HP:0001178)2.03338014
76Pachygyria (HP:0001302)2.03337813
77Abnormal social behavior (HP:0012433)2.03318704
78Impaired social interactions (HP:0000735)2.03318704
79Protruding tongue (HP:0010808)2.02529982
80Progressive macrocephaly (HP:0004481)2.01912449
81Excessive salivation (HP:0003781)2.01698309
82Drooling (HP:0002307)2.01698309
83Cortical visual impairment (HP:0100704)2.00895627
84Broad-based gait (HP:0002136)1.99714387
85Generalized myoclonic seizures (HP:0002123)1.98068201
86Hemiparesis (HP:0001269)1.96548766
87Absent eyebrow (HP:0002223)1.96185907
88Poor eye contact (HP:0000817)1.95676996
89Diplopia (HP:0000651)1.95240816
90Abnormality of binocular vision (HP:0011514)1.95240816
91Poor coordination (HP:0002370)1.92877391
92Abnormal drinking behavior (HP:0030082)1.92060404
93Polydipsia (HP:0001959)1.92060404
94Amyotrophic lateral sclerosis (HP:0007354)1.91988113
95Amblyopia (HP:0000646)1.91268434
96Papilledema (HP:0001085)1.91113540
97Nephronophthisis (HP:0000090)1.90069230
98Esotropia (HP:0000565)1.88863656
99Mutism (HP:0002300)1.88548599
100Narrow nasal bridge (HP:0000446)1.88505306
101Ketoacidosis (HP:0001993)1.86868211
102Psychosis (HP:0000709)1.86716446
103Hypokalemia (HP:0002900)1.86438776
104Postural tremor (HP:0002174)1.86434338
105Double outlet right ventricle (HP:0001719)1.85050315
106Congenital malformation of the right heart (HP:0011723)1.85050315
107Dysmetria (HP:0001310)1.84528291
108Genetic anticipation (HP:0003743)1.84131810
109Osteomalacia (HP:0002749)1.83660498
110Impaired smooth pursuit (HP:0007772)1.82091601
111Pancreatic fibrosis (HP:0100732)1.82030193
112Hyperkalemia (HP:0002153)1.81801387
113Postural instability (HP:0002172)1.80801881
114Split foot (HP:0001839)1.80308794
115Inability to walk (HP:0002540)1.79583944
116Focal dystonia (HP:0004373)1.79141245
117Akinesia (HP:0002304)1.77753764
118Abnormality of midbrain morphology (HP:0002418)1.75895043
119Molar tooth sign on MRI (HP:0002419)1.75895043
120Hyperthyroidism (HP:0000836)1.75639363
121Retinal atrophy (HP:0001105)1.75545437
122Prolonged QT interval (HP:0001657)1.74962749
123Hyperaldosteronism (HP:0000859)1.74598522
124Neoplasm of the peripheral nervous system (HP:0100007)1.73109489
125Scanning speech (HP:0002168)1.73038543
126Hypoplasia of the corpus callosum (HP:0002079)1.72835464
127Retinal dysplasia (HP:0007973)1.70624124
128Sleep apnea (HP:0010535)1.70606439
129True hermaphroditism (HP:0010459)1.70354475
130Lower limb muscle weakness (HP:0007340)1.69810967
131Thyroid-stimulating hormone excess (HP:0002925)1.68905834
132Paraplegia (HP:0010550)1.68353375
133Abnormal rod and cone electroretinograms (HP:0008323)1.67592004
134Hypoventilation (HP:0002791)1.67251868
135Spastic tetraplegia (HP:0002510)1.65741672
136Acute encephalopathy (HP:0006846)1.65606125
137Fetal akinesia sequence (HP:0001989)1.65284546
138Oligodactyly (HP:0012165)1.65005879
139Congenital sensorineural hearing impairment (HP:0008527)1.64947988
140Neurofibrillary tangles (HP:0002185)1.64456477
141Aplasia/Hypoplasia of the fovea (HP:0008060)1.64320511
142Abolished electroretinogram (ERG) (HP:0000550)1.64256959
143Abnormality of the diencephalon (HP:0010662)1.62584219
144Postaxial hand polydactyly (HP:0001162)1.62129173

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.21737015
2INSRR3.27093248
3MAP2K73.12128202
4MARK13.09930049
5CASK3.06249735
6MAP3K42.90595500
7MAP3K122.54405066
8MINK12.53588338
9TNIK2.19479138
10AKT32.13041002
11NTRK22.11047563
12MAP2K42.04321856
13PRKD32.03860386
14MAP3K91.91691236
15SIK31.88863642
16NTRK11.85849159
17MAP3K21.60322778
18PASK1.47522875
19UHMK11.45137336
20MAPK131.44159661
21HIPK21.40085285
22CSNK1G31.35901982
23WNK31.32244548
24CAMKK21.30026643
25TYRO31.26276680
26GRK51.26066734
27PNCK1.24934468
28PAK61.20694741
29BRAF1.20319021
30BMPR1B1.19887570
31PRKCG1.19049645
32CSNK1G11.18942864
33PRKCE1.18902328
34ARAF1.18864585
35CDK51.17889379
36FGFR21.16119483
37IRAK21.15506072
38WNK41.15126847
39EPHA41.14900293
40SIK21.13844959
41SGK21.13324819
42ERBB31.12205299
43MAP3K11.12053860
44MAP4K21.11049025
45SGK2231.04602864
46SGK4941.04602864
47STK161.02607213
48IRAK11.00823239
49MAP3K61.00615848
50RPS6KA20.98656230
51KSR10.97678157
52FRK0.96770988
53PRKCH0.95998180
54MUSK0.94928143
55CDC42BPA0.91245459
56PLK20.91203198
57CAMKK10.91003502
58TAOK30.90473583
59WNK10.88238670
60BCR0.87252598
61PRKCZ0.86113589
62PAK30.86069293
63CAMK2A0.86039789
64IRAK30.85774018
65ERBB40.85632194
66PHKG20.85259305
67PHKG10.85259305
68MAPK150.79411213
69RET0.78000729
70GRK10.76468678
71ADRBK10.75544736
72MKNK20.75309322
73ADRBK20.74646197
74BMPR20.73156019
75PRPF4B0.71909163
76CAMK1G0.71258419
77DYRK1A0.70911510
78FES0.68139607
79STK380.67088129
80STK110.66057710
81DAPK20.64698612
82GRK70.64639135
83NME10.64570050
84CAMK10.62732614
85CDK150.61174361
86OXSR10.60753524
87CSNK1G20.60568656
88CDK180.60094329
89ROCK20.59465736
90CAMK2B0.58829758
91SGK10.57082003
92KSR20.56862991
93FER0.56219253
94CAMK2D0.55944413
95STK38L0.55160431
96SGK30.54820158
97CDK11A0.52936722
98RPS6KB10.52792575
99MARK20.51805307
100DAPK10.51799693
101CAMK2G0.50854736
102LIMK10.50524266
103PRKACA0.48606820
104DYRK20.46832688
105TSSK60.46627852
106PINK10.46321401
107PKN10.44535473
108BCKDK0.44493070
109CAMK40.44368137
110NEK60.44140794
111TNK20.43760907
112CSNK1D0.43073110
113PRKG10.43039305
114RPS6KA30.42643353
115CDK190.41790627
116MAP3K50.41122085
117CSNK1A10.39293609
118PRKCA0.38988421
119MAPK100.38885738
120CSNK1A1L0.38357415
121ROCK10.38101077
122CDK140.37211682
123SCYL20.37039241
124PRKCB0.36694277
125MAP2K10.35831178
126PRKACB0.34929692
127TRIM280.34729198
128EPHB20.34525233
129CSNK1E0.33807077
130MAPK120.30610552
131PRKCI0.29467001
132CDK30.29216924

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.56030220
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.54717176
3Nicotine addiction_Homo sapiens_hsa050333.30422170
4Insulin secretion_Homo sapiens_hsa049112.70309340
5GABAergic synapse_Homo sapiens_hsa047272.68324524
6Collecting duct acid secretion_Homo sapiens_hsa049662.55241584
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.45370033
8Taste transduction_Homo sapiens_hsa047422.42336163
9Vibrio cholerae infection_Homo sapiens_hsa051102.25580186
10Morphine addiction_Homo sapiens_hsa050322.24149337
11Protein export_Homo sapiens_hsa030602.23637341
12Circadian entrainment_Homo sapiens_hsa047132.08936260
13Long-term potentiation_Homo sapiens_hsa047201.96468673
14Amphetamine addiction_Homo sapiens_hsa050311.94009666
15Dopaminergic synapse_Homo sapiens_hsa047281.90043577
16Glutamatergic synapse_Homo sapiens_hsa047241.88547319
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.87457967
18Type I diabetes mellitus_Homo sapiens_hsa049401.85796324
19Olfactory transduction_Homo sapiens_hsa047401.84901510
20Serotonergic synapse_Homo sapiens_hsa047261.82030997
21Cocaine addiction_Homo sapiens_hsa050301.77184814
22Oxidative phosphorylation_Homo sapiens_hsa001901.74322499
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.73894003
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.70920308
25Cholinergic synapse_Homo sapiens_hsa047251.62421100
26Long-term depression_Homo sapiens_hsa047301.57547612
27Type II diabetes mellitus_Homo sapiens_hsa049301.51304462
28Butanoate metabolism_Homo sapiens_hsa006501.38579287
29Aldosterone synthesis and secretion_Homo sapiens_hsa049251.34433243
30Sulfur metabolism_Homo sapiens_hsa009201.32918772
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.28509404
32Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.26847396
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26141432
34Salivary secretion_Homo sapiens_hsa049701.24287113
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.22975636
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.19924216
37Nitrogen metabolism_Homo sapiens_hsa009101.19873337
38Alzheimers disease_Homo sapiens_hsa050101.16050116
39Renin secretion_Homo sapiens_hsa049241.15309104
40Parkinsons disease_Homo sapiens_hsa050121.12944763
41Gastric acid secretion_Homo sapiens_hsa049711.10918871
42Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.09948115
43Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.09462039
44Calcium signaling pathway_Homo sapiens_hsa040201.02255272
45Cardiac muscle contraction_Homo sapiens_hsa042600.98099712
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95928356
47SNARE interactions in vesicular transport_Homo sapiens_hsa041300.93862938
48Phototransduction_Homo sapiens_hsa047440.91586507
49Estrogen signaling pathway_Homo sapiens_hsa049150.90305244
50Gap junction_Homo sapiens_hsa045400.89499789
51Oxytocin signaling pathway_Homo sapiens_hsa049210.88351431
52Carbohydrate digestion and absorption_Homo sapiens_hsa049730.88108155
53Ether lipid metabolism_Homo sapiens_hsa005650.87895963
54Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.87193892
55GnRH signaling pathway_Homo sapiens_hsa049120.83596160
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83459840
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.82337478
58Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.80827363
59Steroid biosynthesis_Homo sapiens_hsa001000.80480707
60Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80405112
61Circadian rhythm_Homo sapiens_hsa047100.79845818
62cAMP signaling pathway_Homo sapiens_hsa040240.79139410
63Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.78687838
64Vitamin B6 metabolism_Homo sapiens_hsa007500.74693823
65Huntingtons disease_Homo sapiens_hsa050160.73918888
66Pancreatic secretion_Homo sapiens_hsa049720.73269721
67cGMP-PKG signaling pathway_Homo sapiens_hsa040220.72613809
68Thyroid hormone synthesis_Homo sapiens_hsa049180.71465808
69Arginine biosynthesis_Homo sapiens_hsa002200.68356291
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67784901
71Rheumatoid arthritis_Homo sapiens_hsa053230.67515225
72Vascular smooth muscle contraction_Homo sapiens_hsa042700.66397726
73Glucagon signaling pathway_Homo sapiens_hsa049220.65995271
74ErbB signaling pathway_Homo sapiens_hsa040120.65868001
75beta-Alanine metabolism_Homo sapiens_hsa004100.65805010
76Melanogenesis_Homo sapiens_hsa049160.65655622
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63905251
78Phagosome_Homo sapiens_hsa041450.63819936
79Alcoholism_Homo sapiens_hsa050340.63055884
80Axon guidance_Homo sapiens_hsa043600.62933937
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62857193
82Regulation of autophagy_Homo sapiens_hsa041400.60008002
83Bile secretion_Homo sapiens_hsa049760.58941951
84Dorso-ventral axis formation_Homo sapiens_hsa043200.57892322
85Fatty acid elongation_Homo sapiens_hsa000620.57738007
86Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55498649
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55330211
88Folate biosynthesis_Homo sapiens_hsa007900.54808297
89Basal cell carcinoma_Homo sapiens_hsa052170.53077548
90N-Glycan biosynthesis_Homo sapiens_hsa005100.52678662
91Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.51905526
92Glioma_Homo sapiens_hsa052140.51761744
93Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.51328638
94Hedgehog signaling pathway_Homo sapiens_hsa043400.50363659
95Lysosome_Homo sapiens_hsa041420.49986178
96MAPK signaling pathway_Homo sapiens_hsa040100.48700907
97Hippo signaling pathway_Homo sapiens_hsa043900.48036226
98Insulin signaling pathway_Homo sapiens_hsa049100.46924365
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.46709546
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45590336
101Propanoate metabolism_Homo sapiens_hsa006400.45152675
102Fatty acid metabolism_Homo sapiens_hsa012120.44746636
103Rap1 signaling pathway_Homo sapiens_hsa040150.41294807
104Sphingolipid metabolism_Homo sapiens_hsa006000.39661455
105Linoleic acid metabolism_Homo sapiens_hsa005910.39534350
106Prolactin signaling pathway_Homo sapiens_hsa049170.38059569
107alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37901386
108Prion diseases_Homo sapiens_hsa050200.37742724
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37735993
110Choline metabolism in cancer_Homo sapiens_hsa052310.37136028
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37090760
112Neurotrophin signaling pathway_Homo sapiens_hsa047220.37044513
113Ras signaling pathway_Homo sapiens_hsa040140.36331301
114Peroxisome_Homo sapiens_hsa041460.35593026
115Inositol phosphate metabolism_Homo sapiens_hsa005620.35415495
116Ovarian steroidogenesis_Homo sapiens_hsa049130.35163768
117Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34708016
118Dilated cardiomyopathy_Homo sapiens_hsa054140.34672104
119Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33602869
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33060459
121Endometrial cancer_Homo sapiens_hsa052130.32171088
122Other glycan degradation_Homo sapiens_hsa005110.31525852
123Oocyte meiosis_Homo sapiens_hsa041140.31236271
124Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.29962852
125Wnt signaling pathway_Homo sapiens_hsa043100.26574819
126Melanoma_Homo sapiens_hsa052180.26549443
127Phospholipase D signaling pathway_Homo sapiens_hsa040720.25704224

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