CABP1

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: Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.90355478
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.74705042
3locomotory exploration behavior (GO:0035641)6.06228984
4synaptic vesicle docking involved in exocytosis (GO:0016081)6.03967562
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.89053025
6glutamate secretion (GO:0014047)5.88326606
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.84171162
8synaptic vesicle exocytosis (GO:0016079)5.81342879
9regulation of synaptic vesicle exocytosis (GO:2000300)5.62421193
10vocalization behavior (GO:0071625)5.45339177
11neuronal action potential propagation (GO:0019227)5.32314463
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.17248481
13regulation of synaptic vesicle transport (GO:1902803)5.01321758
14regulation of glutamate receptor signaling pathway (GO:1900449)4.75649429
15neurotransmitter secretion (GO:0007269)4.75606428
16protein localization to synapse (GO:0035418)4.70367343
17regulation of neuronal synaptic plasticity (GO:0048168)4.65125916
18central nervous system myelination (GO:0022010)4.59810511
19axon ensheathment in central nervous system (GO:0032291)4.59810511
20cerebellar granule cell differentiation (GO:0021707)4.49533431
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.49412400
22amino acid import (GO:0043090)4.48447022
23cellular potassium ion homeostasis (GO:0030007)4.41659605
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.40125006
25synaptic transmission, glutamatergic (GO:0035249)4.36709592
26exploration behavior (GO:0035640)4.34725246
27membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.27266377
28layer formation in cerebral cortex (GO:0021819)4.26083168
29proline transport (GO:0015824)4.10920250
30neurotransmitter-gated ion channel clustering (GO:0072578)4.01745385
31sodium ion export (GO:0071436)3.99341386
32glutamate receptor signaling pathway (GO:0007215)3.98775128
33neuron-neuron synaptic transmission (GO:0007270)3.98758845
34long-term memory (GO:0007616)3.97746691
35regulation of synapse structural plasticity (GO:0051823)3.96663861
36postsynaptic membrane organization (GO:0001941)3.95449103
37regulation of synapse maturation (GO:0090128)3.94514918
38dendritic spine morphogenesis (GO:0060997)3.90360275
39neuromuscular process controlling posture (GO:0050884)3.90156922
40positive regulation of membrane potential (GO:0045838)3.89475544
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.86626241
42cerebellar Purkinje cell differentiation (GO:0021702)3.85992502
43gamma-aminobutyric acid transport (GO:0015812)3.85947124
44synaptic vesicle endocytosis (GO:0048488)3.84532216
45glycine transport (GO:0015816)3.83870863
46cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.81806314
47regulation of neurotransmitter secretion (GO:0046928)3.81597060
48activation of protein kinase A activity (GO:0034199)3.80936377
49neurotransmitter transport (GO:0006836)3.76451699
50regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.75679148
51neuromuscular process controlling balance (GO:0050885)3.74292160
52regulation of dendritic spine development (GO:0060998)3.73062596
53regulation of synaptic plasticity (GO:0048167)3.70755027
54regulation of postsynaptic membrane potential (GO:0060078)3.69814035
55neuron cell-cell adhesion (GO:0007158)3.65764777
56positive regulation of synapse maturation (GO:0090129)3.63261396
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.62085341
58regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.60048870
59cell communication by electrical coupling (GO:0010644)3.59511378
60response to pheromone (GO:0019236)3.58610616
61regulation of dendritic spine morphogenesis (GO:0061001)3.53869617
62membrane depolarization during action potential (GO:0086010)3.52636931
63regulation of neurotransmitter transport (GO:0051588)3.50038996
64regulation of neurotransmitter levels (GO:0001505)3.45292587
65positive regulation of neurotransmitter secretion (GO:0001956)3.44842448
66acidic amino acid transport (GO:0015800)3.44142461
67cellular sodium ion homeostasis (GO:0006883)3.43754529
68positive regulation of neurotransmitter transport (GO:0051590)3.39986081
69positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.38685274
70neurotransmitter uptake (GO:0001504)3.38422210
71L-amino acid import (GO:0043092)3.38298592
72transmission of nerve impulse (GO:0019226)3.36398356
73establishment of synaptic vesicle localization (GO:0097480)3.32704886
74synaptic vesicle transport (GO:0048489)3.32704886
75regulation of vesicle fusion (GO:0031338)3.32302386
76long-term synaptic potentiation (GO:0060291)3.31732284
77G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.30861470
78vesicle docking involved in exocytosis (GO:0006904)3.29351020
79membrane depolarization (GO:0051899)3.27546054
80membrane hyperpolarization (GO:0060081)3.26760741
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.22346788
82regulation of exocytosis (GO:0017157)3.20926781
83innervation (GO:0060384)3.20469727
84positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.19419166
85gamma-aminobutyric acid signaling pathway (GO:0007214)3.19292672
86dendritic spine organization (GO:0097061)3.19103060
87neuromuscular process (GO:0050905)3.18792973
88positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.17225648
89neuronal ion channel clustering (GO:0045161)3.16854664
90* regulation of voltage-gated calcium channel activity (GO:1901385)3.15582043
91response to auditory stimulus (GO:0010996)3.15250518
92negative regulation of synaptic transmission, GABAergic (GO:0032229)3.14925692
93acid secretion (GO:0046717)3.14162665
94phosphorelay signal transduction system (GO:0000160)3.13906799
95cell differentiation in hindbrain (GO:0021533)3.13760852
96regulation of ARF protein signal transduction (GO:0032012)3.13103512
97dicarboxylic acid transport (GO:0006835)3.12935209
98cell migration in hindbrain (GO:0021535)3.12479463
99positive regulation of synaptic transmission, GABAergic (GO:0032230)3.11949972
100potassium ion import (GO:0010107)3.11485399
101synaptic transmission (GO:0007268)3.08960938
102L-glutamate transport (GO:0015813)3.08334501
103regulation of synaptic transmission (GO:0050804)3.08079528
104cytoskeletal anchoring at plasma membrane (GO:0007016)3.06966912
105positive regulation of dendrite development (GO:1900006)3.06580773
106signal release (GO:0023061)3.06177304
107auditory behavior (GO:0031223)3.05734401
108regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.04940731
109positive regulation of synaptic transmission (GO:0050806)3.02874915
110dendrite morphogenesis (GO:0048813)3.02654429
111G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.02403424
112long term synaptic depression (GO:0060292)3.01759577
113potassium ion homeostasis (GO:0055075)3.01048830
114vesicle transport along microtubule (GO:0047496)3.00997372
115positive regulation of dendritic spine morphogenesis (GO:0061003)3.00538284
116chemosensory behavior (GO:0007635)3.00306286
117regulation of calcium ion-dependent exocytosis (GO:0017158)2.96694591
118positive regulation of dendritic spine development (GO:0060999)2.96020685
119neuromuscular synaptic transmission (GO:0007274)2.95462681
120learning (GO:0007612)2.94961321
121negative regulation of dendrite morphogenesis (GO:0050774)2.94529146
122adult walking behavior (GO:0007628)2.93779088
123prepulse inhibition (GO:0060134)2.92261872

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.00314048
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12669692
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06412170
4GBX2_23144817_ChIP-Seq_PC3_Human3.04746185
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00863841
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.93445650
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.85016625
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84387912
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84387912
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.79767857
11* DROSHA_22980978_ChIP-Seq_HELA_Human2.77123145
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56153884
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56136395
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.51679821
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.50648140
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48825100
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44016853
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.41143802
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.37225804
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.34500118
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32770785
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.30244340
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.25601646
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.19726679
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.04838973
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.99000019
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.88629595
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.86851763
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70921491
30* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.62738967
31AR_21572438_ChIP-Seq_LNCaP_Human1.62082004
32* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59839649
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59101728
34RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.42863321
35* KDM2B_26808549_Chip-Seq_K562_Human1.42679459
36SMAD4_21799915_ChIP-Seq_A2780_Human1.42081185
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.39945062
38DNAJC2_21179169_ChIP-ChIP_NT2_Human1.37903763
39ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32588841
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30446034
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.27346299
42TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27204766
43EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25056482
44AR_19668381_ChIP-Seq_PC3_Human1.24032615
45RING1B_27294783_Chip-Seq_NPCs_Mouse1.21532632
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.20358018
47* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20108265
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.18793674
49WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.15687657
50SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15640523
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15079157
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14784381
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.14170212
54SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14008663
55* STAT3_23295773_ChIP-Seq_U87_Human1.13855180
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12036096
57P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11136351
58ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.11026477
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.10990652
60* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09782002
61GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09137001
62OCT4_19829295_ChIP-Seq_ESCs_Human1.08887563
63AR_25329375_ChIP-Seq_VCAP_Human1.08414193
64CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08407527
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.07361985
66ZNF274_21170338_ChIP-Seq_K562_Hela1.05522422
67LXR_22292898_ChIP-Seq_THP-1_Human1.03480177
68* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02490055
69TET1_21490601_ChIP-Seq_MESCs_Mouse1.02305833
70YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02090756
71SMAD3_21741376_ChIP-Seq_EPCs_Human1.01900401
72ESR2_21235772_ChIP-Seq_MCF-7_Human1.01649233
73CTCF_27219007_Chip-Seq_Bcells_Human1.00832287
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99389071
75SMAD3_21741376_ChIP-Seq_HESCs_Human0.98915389
76TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.98826995
77BMI1_23680149_ChIP-Seq_NPCS_Mouse0.98699830
78* TCF4_23295773_ChIP-Seq_U87_Human0.97589089
79* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95673946
80SMAD3_21741376_ChIP-Seq_ESCs_Human0.94993636
81P300_19829295_ChIP-Seq_ESCs_Human0.94700389
82* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.94681443
83ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94418104
84SRY_22984422_ChIP-ChIP_TESTIS_Rat0.93054970
85DPY_21335234_ChIP-Seq_ESCs_Mouse0.93032383
86SMC4_20622854_ChIP-Seq_HELA_Human0.92915451
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.92427604
88THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92403050
89GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91980117
90PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91769664
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91370706
92AHR_22903824_ChIP-Seq_MCF-7_Human0.90698970
93CBX2_27304074_Chip-Seq_ESCs_Mouse0.90540457
94TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89838844
95* RNF2_27304074_Chip-Seq_NSC_Mouse0.89120764
96RXR_22108803_ChIP-Seq_LS180_Human0.88110527
97ARNT_22903824_ChIP-Seq_MCF-7_Human0.88001505
98TOP2B_26459242_ChIP-Seq_MCF-7_Human0.86529342
99EGR1_19032775_ChIP-ChIP_M12_Human0.86314695
100* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85857423
101TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85528364
102ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85338699
103DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.85025854
104KDM2B_26808549_Chip-Seq_SUP-B15_Human0.85020163
105SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84392908
106TP53_20018659_ChIP-ChIP_R1E_Mouse0.83995243
107ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83664574
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.82517923
109KLF4_19829295_ChIP-Seq_ESCs_Human0.82055579
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80835534
111TAF15_26573619_Chip-Seq_HEK293_Human0.80744334
112SMAD4_21741376_ChIP-Seq_ESCs_Human0.80540601
113PIAS1_25552417_ChIP-Seq_VCAP_Human0.80502907
114TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.80146872
115NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80090147
116P68_20966046_ChIP-Seq_HELA_Human0.79783831
117TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79553025
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78492341
119CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77625090
120CREB1_26743006_Chip-Seq_LNCaP_Human0.77557764
121POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.72729250
122PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.71314383
123* MYC_19915707_ChIP-ChIP_AK7_Human0.69932043
124RUNX1_26923725_Chip-Seq_HPCs_Mouse0.68693636
125FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.68665040

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.98078006
2MP0003635_abnormal_synaptic_transmissio4.22148390
3MP0003880_abnormal_central_pattern4.16841940
4MP0004270_analgesia3.88111746
5MP0009046_muscle_twitch3.41091327
6MP0009745_abnormal_behavioral_response3.37191589
7MP0002063_abnormal_learning/memory/cond3.29576183
8MP0002064_seizures3.17554909
9MP0001968_abnormal_touch/_nociception3.10465468
10MP0005423_abnormal_somatic_nervous2.89743393
11MP0002734_abnormal_mechanical_nocicepti2.84137224
12MP0002272_abnormal_nervous_system2.76824351
13MP0002572_abnormal_emotion/affect_behav2.70996593
14MP0001486_abnormal_startle_reflex2.65755050
15MP0002735_abnormal_chemical_nociception2.57679787
16MP0002822_catalepsy2.49510888
17MP0002736_abnormal_nociception_after2.46538952
18MP0004858_abnormal_nervous_system2.25829412
19MP0008569_lethality_at_weaning2.25477719
20MP0001501_abnormal_sleep_pattern2.24933652
21MP0001970_abnormal_pain_threshold2.08481128
22MP0002733_abnormal_thermal_nociception2.05965593
23MP0002067_abnormal_sensory_capabilities2.03008069
24MP0001440_abnormal_grooming_behavior2.01848606
25MP0009780_abnormal_chondrocyte_physiolo1.88814031
26MP0004811_abnormal_neuron_physiology1.88158173
27MP0003879_abnormal_hair_cell1.86680691
28MP0002184_abnormal_innervation1.84700364
29MP0002909_abnormal_adrenal_gland1.76988945
30MP0002557_abnormal_social/conspecific_i1.71439564
31MP0000955_abnormal_spinal_cord1.70561109
32MP0004924_abnormal_behavior1.62689327
33MP0005386_behavior/neurological_phenoty1.62689327
34MP0003329_amyloid_beta_deposits1.62304803
35MP0000778_abnormal_nervous_system1.56549788
36MP0005646_abnormal_pituitary_gland1.53627356
37MP0004885_abnormal_endolymph1.51333788
38MP0002882_abnormal_neuron_morphology1.47692958
39MP0003633_abnormal_nervous_system1.46037640
40MP0002066_abnormal_motor_capabilities/c1.43869054
41MP0001502_abnormal_circadian_rhythm1.36725569
42MP0003787_abnormal_imprinting1.35330964
43MP0004142_abnormal_muscle_tone1.32378512
44MP0001984_abnormal_olfaction1.31840366
45MP0006276_abnormal_autonomic_nervous1.30662741
46MP0005645_abnormal_hypothalamus_physiol1.28394576
47MP0003283_abnormal_digestive_organ1.26362880
48MP0003123_paternal_imprinting1.23220634
49MP0003631_nervous_system_phenotype1.22574850
50MP0004145_abnormal_muscle_electrophysio1.16189728
51MP0005551_abnormal_eye_electrophysiolog1.12166146
52MP0008961_abnormal_basal_metabolism1.06108323
53MP0002229_neurodegeneration1.05625784
54MP0002152_abnormal_brain_morphology1.05542129
55MP0003075_altered_response_to1.01961366
56MP0000751_myopathy1.00582863
57MP0008872_abnormal_physiological_respon1.00435711
58MP0004147_increased_porphyrin_level0.98338089
59MP0001346_abnormal_lacrimal_gland0.94875570
60MP0001177_atelectasis0.94498309
61MP0003632_abnormal_nervous_system0.90534737
62MP0008874_decreased_physiological_sensi0.90296763
63MP0002069_abnormal_eating/drinking_beha0.88481913
64MP0000569_abnormal_digit_pigmentation0.86950945
65MP0004742_abnormal_vestibular_system0.86548142
66MP0005499_abnormal_olfactory_system0.84789500
67MP0005394_taste/olfaction_phenotype0.84789500
68MP0010386_abnormal_urinary_bladder0.83500239
69MP0004233_abnormal_muscle_weight0.82043405
70MP0003634_abnormal_glial_cell0.81633348
71MP0003122_maternal_imprinting0.81623565
72MP0002090_abnormal_vision0.81597408
73MP0002752_abnormal_somatic_nervous0.81234919
74MP0001963_abnormal_hearing_physiology0.81203617
75MP0005623_abnormal_meninges_morphology0.80798696
76MP0002638_abnormal_pupillary_reflex0.80588591
77MP0008877_abnormal_DNA_methylation0.80578036
78MP0004085_abnormal_heartbeat0.79980815
79MP0001348_abnormal_lacrimal_gland0.79483338
80MP0001485_abnormal_pinna_reflex0.79102223
81MP0005167_abnormal_blood-brain_barrier0.79083743
82MP0003690_abnormal_glial_cell0.77632825
83MP0001529_abnormal_vocalization0.75690885
84MP0004130_abnormal_muscle_cell0.74155704
85MP0001905_abnormal_dopamine_level0.73982480
86MP0002653_abnormal_ependyma_morphology0.70761745
87MP0004043_abnormal_pH_regulation0.69680030
88MP0001188_hyperpigmentation0.69674065
89MP0000920_abnormal_myelination0.68888706
90MP0005535_abnormal_body_temperature0.67345056
91MP0000013_abnormal_adipose_tissue0.65230043
92MP0003137_abnormal_impulse_conducting0.62548220
93MP0004484_altered_response_of0.62112820
94MP0006072_abnormal_retinal_apoptosis0.61828574
95MP0003646_muscle_fatigue0.61513915
96MP0004215_abnormal_myocardial_fiber0.59587826
97MP0004510_myositis0.59431171
98MP0000631_abnormal_neuroendocrine_gland0.59174784
99MP0001986_abnormal_taste_sensitivity0.59028270
100MP0003045_fibrosis0.56529518
101MP0000604_amyloidosis0.56508988
102MP0003172_abnormal_lysosome_physiology0.56424604
103MP0005166_decreased_susceptibility_to0.55804474
104MP0010769_abnormal_survival0.55542832
105MP0003183_abnormal_peptide_metabolism0.55421993
106MP0005253_abnormal_eye_physiology0.54730327
107MP0000026_abnormal_inner_ear0.54564472
108MP0001943_abnormal_respiration0.54375981
109MP0003861_abnormal_nervous_system0.54279309
110MP0003956_abnormal_body_size0.48520021
111MP0010768_mortality/aging0.48254470
112MP0002082_postnatal_lethality0.46121811
113MP0010770_preweaning_lethality0.46121811
114MP0002876_abnormal_thyroid_physiology0.46099327
115MP0002089_abnormal_postnatal_growth/wei0.45810886
116MP0000579_abnormal_nail_morphology0.45060501
117MP0002873_normal_phenotype0.44429399
118MP0001765_abnormal_ion_homeostasis0.43870534

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.77996434
2Focal motor seizures (HP:0011153)7.44528489
3Focal seizures (HP:0007359)5.73233259
4Visual hallucinations (HP:0002367)5.40788617
5Febrile seizures (HP:0002373)5.23671568
6Action tremor (HP:0002345)4.93329624
7Epileptic encephalopathy (HP:0200134)4.90796115
8Atonic seizures (HP:0010819)4.90082053
9Progressive cerebellar ataxia (HP:0002073)4.78452912
10Absence seizures (HP:0002121)4.02816932
11Neurofibrillary tangles (HP:0002185)3.88192684
12Generalized tonic-clonic seizures (HP:0002069)3.87333933
13Gaze-evoked nystagmus (HP:0000640)3.79047102
14Cerebral hypomyelination (HP:0006808)3.73877872
15Dialeptic seizures (HP:0011146)3.66128523
16Ankle clonus (HP:0011448)3.47325540
17Impaired vibration sensation in the lower limbs (HP:0002166)3.40400831
18Supranuclear gaze palsy (HP:0000605)3.38497124
19Limb dystonia (HP:0002451)3.34954088
20Abnormality of the lower motor neuron (HP:0002366)3.34563749
21Dysdiadochokinesis (HP:0002075)3.32505072
22Poor eye contact (HP:0000817)3.31845424
23Depression (HP:0000716)3.24881919
24Ventricular fibrillation (HP:0001663)3.18855703
25Annular pancreas (HP:0001734)3.16160063
26Urinary bladder sphincter dysfunction (HP:0002839)3.15821027
27Broad-based gait (HP:0002136)3.14725119
28Cerebral inclusion bodies (HP:0100314)3.11536794
29Dysmetria (HP:0001310)3.07592922
30Impaired smooth pursuit (HP:0007772)3.06700801
31Postural instability (HP:0002172)3.04800075
32Genetic anticipation (HP:0003743)3.02404425
33Abnormal social behavior (HP:0012433)2.97796394
34Impaired social interactions (HP:0000735)2.97796394
35Amblyopia (HP:0000646)2.90478885
36Truncal ataxia (HP:0002078)2.88111247
37Bundle branch block (HP:0011710)2.82466677
38Anxiety (HP:0000739)2.82235588
39Hemiplegia (HP:0002301)2.78603816
40Abnormal eating behavior (HP:0100738)2.75134848
41Dysmetric saccades (HP:0000641)2.63503956
42Urinary urgency (HP:0000012)2.62017731
43Abnormality of ocular smooth pursuit (HP:0000617)2.61885551
44Akinesia (HP:0002304)2.61641136
45Scanning speech (HP:0002168)2.59252060
46Intention tremor (HP:0002080)2.54691911
47Papilledema (HP:0001085)2.53911444
48Hemiparesis (HP:0001269)2.53675664
49Torticollis (HP:0000473)2.50658748
50Apathy (HP:0000741)2.49080908
51Peripheral hypomyelination (HP:0007182)2.46571808
52Spastic gait (HP:0002064)2.42681363
53Pointed chin (HP:0000307)2.42006919
54Stereotypic behavior (HP:0000733)2.41572643
55Status epilepticus (HP:0002133)2.41167401
56Bradykinesia (HP:0002067)2.39353836
57Spastic tetraparesis (HP:0001285)2.38474231
58Sleep apnea (HP:0010535)2.38345363
59Choreoathetosis (HP:0001266)2.37525039
60Mutism (HP:0002300)2.37129482
61Impaired vibratory sensation (HP:0002495)2.34719862
62Fetal akinesia sequence (HP:0001989)2.33319743
63Focal dystonia (HP:0004373)2.32471326
64Diplopia (HP:0000651)2.29469382
65Abnormality of binocular vision (HP:0011514)2.29469382
66CNS hypomyelination (HP:0003429)2.28599819
67Insomnia (HP:0100785)2.27550933
68Epileptiform EEG discharges (HP:0011182)2.25768902
69Diminished motivation (HP:0000745)2.23285358
70EEG with generalized epileptiform discharges (HP:0011198)2.17513187
71Megalencephaly (HP:0001355)2.17155935
72Polyphagia (HP:0002591)2.13209268
73Pheochromocytoma (HP:0002666)2.10906943
74Incomplete penetrance (HP:0003829)2.08247572
75Increased circulating renin level (HP:0000848)2.08162710
76Hypsarrhythmia (HP:0002521)2.06767794
77Spinal canal stenosis (HP:0003416)2.04125277
78Abnormal EKG (HP:0003115)2.01752463
79Lower limb muscle weakness (HP:0007340)2.01689199
80Termporal pattern (HP:0011008)2.00142967
81Insidious onset (HP:0003587)2.00142967
82Rapidly progressive (HP:0003678)1.99151237
83Craniofacial dystonia (HP:0012179)1.98828272
84Absent speech (HP:0001344)1.97463910
85Hyperventilation (HP:0002883)1.96439634
86Abnormality of saccadic eye movements (HP:0000570)1.95514342
87Gait ataxia (HP:0002066)1.95133285
88Agitation (HP:0000713)1.94764255
89Morphological abnormality of the pyramidal tract (HP:0002062)1.92934884
90Obstructive sleep apnea (HP:0002870)1.92500713
91Ulnar claw (HP:0001178)1.90997152
92Degeneration of the lateral corticospinal tracts (HP:0002314)1.90023774
93Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.90023774
94Drooling (HP:0002307)1.88591269
95Excessive salivation (HP:0003781)1.88591269
96Lower limb asymmetry (HP:0100559)1.88481264
97Clonus (HP:0002169)1.88126892
98Memory impairment (HP:0002354)1.87014012
99Dementia (HP:0000726)1.86435664
100Progressive inability to walk (HP:0002505)1.85828829
101Heart block (HP:0012722)1.85378565
102Split foot (HP:0001839)1.83055185
103Resting tremor (HP:0002322)1.81808793
104Aplasia of the phalanges of the hand (HP:0009802)1.81472869
105Aplasia involving bones of the extremities (HP:0009825)1.81472869
106Aplasia involving bones of the upper limbs (HP:0009823)1.81472869
107Abnormality of the periventricular white matter (HP:0002518)1.81282083
108Hypercortisolism (HP:0001578)1.76107348
109Neuronal loss in central nervous system (HP:0002529)1.76097538
110Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.75957736
111Unsteady gait (HP:0002317)1.74596027
112Abnormality of the corticospinal tract (HP:0002492)1.73303879
113Prolonged QT interval (HP:0001657)1.72681899
114Central scotoma (HP:0000603)1.72252383
115Neuroendocrine neoplasm (HP:0100634)1.71000823
116Limb ataxia (HP:0002070)1.70145621
117Generalized myoclonic seizures (HP:0002123)1.69377241
118Neoplasm of the peripheral nervous system (HP:0100007)1.68892111
119Failure to thrive in infancy (HP:0001531)1.67698353
120Postural tremor (HP:0002174)1.67607360
121Tetraplegia (HP:0002445)1.65076959
122Rigidity (HP:0002063)1.65045063
123Amyotrophic lateral sclerosis (HP:0007354)1.64981285
124Delusions (HP:0000746)1.64443483
125Hammertoe (HP:0001765)1.61845447
126Lower limb amyotrophy (HP:0007210)1.61666861

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.31211760
2EPHA44.20004735
3MAP3K93.74708833
4DAPK23.09546214
5MINK12.89528028
6MAP3K42.88876741
7PRKD32.82679259
8PAK62.67454678
9CAMKK12.41100236
10MAP2K72.35565024
11KSR22.25806487
12MARK12.13979158
13MAP2K42.02326719
14NTRK11.96167810
15STK381.85259988
16DAPK11.80611097
17MAP3K121.74738029
18NTRK21.73480847
19PRPF4B1.61149158
20RIPK41.60809923
21PINK11.57585432
22CDK51.53078139
23SIK21.41268626
24GRK51.41107079
25UHMK11.33575350
26KSR11.32941159
27TYRO31.31235947
28CDK191.30388558
29CAMKK21.28738300
30MAP3K21.28012916
31PLK21.26925871
32PRKCG1.24047013
33MAPK131.22483367
34TNIK1.18077506
35TAOK11.11938137
36SGK4941.10451866
37SGK2231.10451866
38LATS21.06009899
39CAMK11.05238712
40ALK1.01876633
41RET0.97974291
42WNK10.97703449
43STK110.97386417
44RIPK10.96909053
45PRKCH0.96377338
46SGK20.95368229
47NEK10.94186448
48MAP3K110.94066091
49PHKG20.91936077
50PHKG10.91936077
51LMTK20.91647002
52CDK180.90724252
53SGK30.90585253
54CDK150.90356837
55MAP3K130.89657760
56CASK0.87206354
57ARAF0.85251679
58MAPK120.83325691
59CDK140.82346714
60FES0.80399244
61MARK20.80133537
62PKN10.79096025
63CDK11A0.78757710
64CAMK2A0.78292371
65CDC42BPA0.75634664
66PDK10.74756509
67TNK20.73906153
68BRSK10.73255567
69MAP3K60.71811245
70SGK10.71718057
71LIMK10.70739078
72DYRK1A0.68842614
73NEK60.67674185
74BMPR20.66464077
75MAP3K10.65722077
76CAMK40.65527719
77AKT30.65363464
78PDPK10.63525708
79RAF10.56704420
80PNCK0.56647860
81PAK30.56613447
82BRAF0.53848860
83PTK2B0.53793866
84CAMK2B0.53733248
85SIK30.53461521
86RPS6KA30.53367083
87DAPK30.52907887
88OXSR10.49736879
89PRKG20.49682129
90MAPK100.48108738
91FGFR20.48098182
92CCNB10.46813664
93SCYL20.46608404
94PRKCZ0.45163919
95CAMK2G0.44609047
96PRKCA0.39793210
97BMX0.39575707
98DDR20.38263936
99ROCK20.38245465
100MAP3K70.37073900
101MAP2K60.36724789
102PRKCE0.36102657
103CSNK1G20.35619446
104MAP2K10.35339347
105CAMK2D0.35303726
106FYN0.32304524
107ROCK10.30971564
108PRKD20.30778819
109TESK10.29937876
110DMPK0.29581954
111ERBB20.29410781
112MAPK80.29129118
113PRKCB0.27800241
114MAPK40.25870936
115PRKACA0.25848799
116PRKG10.24871429
117MAPKAPK50.24001903

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.51437118
2Nicotine addiction_Homo sapiens_hsa050333.36823233
3Olfactory transduction_Homo sapiens_hsa047402.87994768
4Circadian entrainment_Homo sapiens_hsa047132.71474986
5Long-term potentiation_Homo sapiens_hsa047202.62510595
6Glutamatergic synapse_Homo sapiens_hsa047242.60632595
7GABAergic synapse_Homo sapiens_hsa047272.55588614
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53988615
9Morphine addiction_Homo sapiens_hsa050322.42859637
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.32348946
11Amphetamine addiction_Homo sapiens_hsa050312.31852823
12Insulin secretion_Homo sapiens_hsa049112.23808162
13Salivary secretion_Homo sapiens_hsa049702.14625409
14Dopaminergic synapse_Homo sapiens_hsa047282.04903734
15Cholinergic synapse_Homo sapiens_hsa047251.98200085
16Gastric acid secretion_Homo sapiens_hsa049711.93884647
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91632992
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76680121
19Vitamin B6 metabolism_Homo sapiens_hsa007501.75595844
20Taste transduction_Homo sapiens_hsa047421.71993386
21Oxytocin signaling pathway_Homo sapiens_hsa049211.66982244
22Long-term depression_Homo sapiens_hsa047301.62641918
23Calcium signaling pathway_Homo sapiens_hsa040201.55637398
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.53869873
25GnRH signaling pathway_Homo sapiens_hsa049121.52172946
26Renin secretion_Homo sapiens_hsa049241.44120935
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43981342
28Serotonergic synapse_Homo sapiens_hsa047261.40237540
29Cocaine addiction_Homo sapiens_hsa050301.40213431
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.37939653
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.36447310
32Type II diabetes mellitus_Homo sapiens_hsa049301.34270042
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.30816137
34Nitrogen metabolism_Homo sapiens_hsa009101.28616144
35Gap junction_Homo sapiens_hsa045401.28046822
36cAMP signaling pathway_Homo sapiens_hsa040241.27116044
37Glioma_Homo sapiens_hsa052141.19038896
38Estrogen signaling pathway_Homo sapiens_hsa049151.15965252
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.09800796
40Collecting duct acid secretion_Homo sapiens_hsa049661.07624295
41ErbB signaling pathway_Homo sapiens_hsa040121.06997333
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06475140
43Phototransduction_Homo sapiens_hsa047441.04222514
44Melanogenesis_Homo sapiens_hsa049161.00808755
45Oocyte meiosis_Homo sapiens_hsa041140.97724092
46Dorso-ventral axis formation_Homo sapiens_hsa043200.94200203
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.92052263
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91830732
49Pancreatic secretion_Homo sapiens_hsa049720.89511633
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.88183722
51Axon guidance_Homo sapiens_hsa043600.87636868
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86779378
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86111191
54Thyroid hormone synthesis_Homo sapiens_hsa049180.81200600
55Cardiac muscle contraction_Homo sapiens_hsa042600.80195435
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78306552
57Dilated cardiomyopathy_Homo sapiens_hsa054140.76717681
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.76130389
59Choline metabolism in cancer_Homo sapiens_hsa052310.75130826
60MAPK signaling pathway_Homo sapiens_hsa040100.74598227
61mTOR signaling pathway_Homo sapiens_hsa041500.72072068
62Inositol phosphate metabolism_Homo sapiens_hsa005620.71573495
63VEGF signaling pathway_Homo sapiens_hsa043700.70611181
64Circadian rhythm_Homo sapiens_hsa047100.69450038
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67365512
66Vibrio cholerae infection_Homo sapiens_hsa051100.67059476
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65505045
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63632194
69Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62401542
70Rap1 signaling pathway_Homo sapiens_hsa040150.60014077
71Glucagon signaling pathway_Homo sapiens_hsa049220.59978084
72Type I diabetes mellitus_Homo sapiens_hsa049400.59439837
73Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57666368
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.56284223
75Arginine and proline metabolism_Homo sapiens_hsa003300.56080059
76Ras signaling pathway_Homo sapiens_hsa040140.55799728
77Endocytosis_Homo sapiens_hsa041440.55030388
78Endometrial cancer_Homo sapiens_hsa052130.51414874
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50135663
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49930009
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48660044
82Non-small cell lung cancer_Homo sapiens_hsa052230.48440107
83Bile secretion_Homo sapiens_hsa049760.48146649
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45834897
85Wnt signaling pathway_Homo sapiens_hsa043100.45209086
86Histidine metabolism_Homo sapiens_hsa003400.45084030
87Insulin signaling pathway_Homo sapiens_hsa049100.44253551
88Arginine biosynthesis_Homo sapiens_hsa002200.43337269
89Alcoholism_Homo sapiens_hsa050340.43217931
90Ovarian steroidogenesis_Homo sapiens_hsa049130.42500663
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41608443
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41464741
93Chemokine signaling pathway_Homo sapiens_hsa040620.39569119
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39157191
95Central carbon metabolism in cancer_Homo sapiens_hsa052300.36532902
96Mineral absorption_Homo sapiens_hsa049780.35745847
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35223128
98Prolactin signaling pathway_Homo sapiens_hsa049170.33289423
99Alzheimers disease_Homo sapiens_hsa050100.33090233
100Prion diseases_Homo sapiens_hsa050200.32476473
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32160459
102beta-Alanine metabolism_Homo sapiens_hsa004100.32159001
103African trypanosomiasis_Homo sapiens_hsa051430.32113180
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31267374
105Renal cell carcinoma_Homo sapiens_hsa052110.29409111
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29217125
107Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.28603033
108Fatty acid biosynthesis_Homo sapiens_hsa000610.27978730
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19012030
110HIF-1 signaling pathway_Homo sapiens_hsa040660.17145351
111Tight junction_Homo sapiens_hsa045300.16966279
112Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.16554172
113Regulation of autophagy_Homo sapiens_hsa041400.14694964
114AMPK signaling pathway_Homo sapiens_hsa041520.13897165
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.12762100

Most similar genes based on co-expression Upload to Enrichr

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