SLC4A10

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 belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct 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)6.11051324
2synaptic vesicle docking involved in exocytosis (GO:0016081)6.03522310
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.90408024
4synaptic vesicle exocytosis (GO:0016079)5.79596025
5vocalization behavior (GO:0071625)5.63687893
6glutamate secretion (GO:0014047)5.58206656
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.54150621
8regulation of synaptic vesicle exocytosis (GO:2000300)5.31808649
9locomotory exploration behavior (GO:0035641)5.26828177
10synaptic vesicle maturation (GO:0016188)5.23608049
11neurotransmitter-gated ion channel clustering (GO:0072578)5.17595678
12protein localization to synapse (GO:0035418)5.12026205
13regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.08606697
14regulation of glutamate receptor signaling pathway (GO:1900449)5.03691501
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.96814925
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.96695127
17neuron cell-cell adhesion (GO:0007158)4.94320900
18glutamate receptor signaling pathway (GO:0007215)4.72314302
19neuronal action potential propagation (GO:0019227)4.71176312
20regulation of synaptic vesicle transport (GO:1902803)4.67088555
21synaptic transmission, glutamatergic (GO:0035249)4.61930781
22neuron-neuron synaptic transmission (GO:0007270)4.56636104
23neurotransmitter secretion (GO:0007269)4.52757052
24positive regulation of synapse maturation (GO:0090129)4.46265313
25gamma-aminobutyric acid signaling pathway (GO:0007214)4.43820129
26presynaptic membrane assembly (GO:0097105)4.32771348
27G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.27647871
28cellular potassium ion homeostasis (GO:0030007)4.16731797
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.14879753
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.10979688
31exploration behavior (GO:0035640)4.09838177
32long-term synaptic potentiation (GO:0060291)4.09281212
33response to histamine (GO:0034776)4.08717623
34regulation of long-term neuronal synaptic plasticity (GO:0048169)4.05117631
35detection of calcium ion (GO:0005513)4.02550271
36regulation of neuronal synaptic plasticity (GO:0048168)4.02342185
37regulation of postsynaptic membrane potential (GO:0060078)3.99645430
38long-term memory (GO:0007616)3.98985398
39postsynaptic membrane organization (GO:0001941)3.98119806
40cerebellar granule cell differentiation (GO:0021707)3.97271129
41positive regulation of membrane potential (GO:0045838)3.97243795
42presynaptic membrane organization (GO:0097090)3.96980246
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.94942605
44regulation of synaptic transmission, glutamatergic (GO:0051966)3.87234686
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.85795154
46synaptic vesicle endocytosis (GO:0048488)3.83090168
47gamma-aminobutyric acid transport (GO:0015812)3.79612584
48cerebellar Purkinje cell differentiation (GO:0021702)3.74775680
49regulation of synapse structural plasticity (GO:0051823)3.73301703
50neurotransmitter transport (GO:0006836)3.71357490
51regulation of neurotransmitter secretion (GO:0046928)3.70591631
52positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.66562678
53positive regulation of neurotransmitter secretion (GO:0001956)3.66102292
54regulation of synaptic plasticity (GO:0048167)3.64647617
55regulation of synapse maturation (GO:0090128)3.58735961
56L-amino acid import (GO:0043092)3.51105838
57proline transport (GO:0015824)3.48248786
58positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.44286270
59layer formation in cerebral cortex (GO:0021819)3.42731319
60positive regulation of neurotransmitter transport (GO:0051590)3.41925930
61neuron recognition (GO:0008038)3.41874383
62negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.41095644
63regulation of neurotransmitter transport (GO:0051588)3.40380421
64C4-dicarboxylate transport (GO:0015740)3.40123306
65membrane depolarization (GO:0051899)3.35672048
66regulation of neurotransmitter levels (GO:0001505)3.35518571
67membrane hyperpolarization (GO:0060081)3.33889535
68auditory behavior (GO:0031223)3.33528744
69regulation of dendritic spine morphogenesis (GO:0061001)3.31721049
70behavioral fear response (GO:0001662)3.30159434
71behavioral defense response (GO:0002209)3.30159434
72startle response (GO:0001964)3.29550806
73positive regulation of synaptic transmission (GO:0050806)3.29287115
74behavioral response to cocaine (GO:0048148)3.29187300
75positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.29014674
76innervation (GO:0060384)3.28697333
77serotonin metabolic process (GO:0042428)3.26852360
78regulation of vesicle fusion (GO:0031338)3.25903320
79membrane depolarization during action potential (GO:0086010)3.24610896
80transmission of nerve impulse (GO:0019226)3.23844362
81mechanosensory behavior (GO:0007638)3.23601350
82dendritic spine morphogenesis (GO:0060997)3.22626218
83sodium ion export (GO:0071436)3.21676114
84potassium ion homeostasis (GO:0055075)3.20991801
85regulation of voltage-gated calcium channel activity (GO:1901385)3.20330325
86response to auditory stimulus (GO:0010996)3.20152394
87long term synaptic depression (GO:0060292)3.18314676
88activation of protein kinase A activity (GO:0034199)3.16484560
89fear response (GO:0042596)3.15111403
90synaptic transmission (GO:0007268)3.14248557
91cellular sodium ion homeostasis (GO:0006883)3.14207448
92learning (GO:0007612)3.13284250
93chemosensory behavior (GO:0007635)3.12647395
94positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12103295
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11993342
96axonal fasciculation (GO:0007413)3.11696705
97synapse assembly (GO:0007416)3.10333913
98potassium ion import (GO:0010107)3.09710093
99regulation of synaptic transmission (GO:0050804)3.09417727
100positive regulation of dendritic spine development (GO:0060999)3.08258090
101neuromuscular process controlling posture (GO:0050884)3.07752501
102amino acid import (GO:0043090)3.07501283
103sleep (GO:0030431)3.07047792
104cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.04408548
105adult walking behavior (GO:0007628)2.99540419
106regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.99173676
107neuronal ion channel clustering (GO:0045161)2.99022213
108positive regulation of dendritic spine morphogenesis (GO:0061003)2.97371391
109neuromuscular process controlling balance (GO:0050885)2.96609659
110acidic amino acid transport (GO:0015800)2.96276130
111regulation of calcium ion-dependent exocytosis (GO:0017158)2.96166288
112positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.95612231
113synaptic vesicle transport (GO:0048489)2.94966905
114establishment of synaptic vesicle localization (GO:0097480)2.94966905
115striatum development (GO:0021756)2.94834398
116primary amino compound metabolic process (GO:1901160)2.94124489
117regulation of dendritic spine development (GO:0060998)2.92424554
118regulation of ARF protein signal transduction (GO:0032012)2.92206721
119positive regulation of potassium ion transmembrane transport (GO:1901381)2.91562998
120cell differentiation in hindbrain (GO:0021533)2.89609575
121glycosphingolipid biosynthetic process (GO:0006688)2.88714604
122negative regulation of dendrite morphogenesis (GO:0050774)2.86061210
123negative regulation of dendrite development (GO:2000171)2.85870096

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.45062933
2GBX2_23144817_ChIP-Seq_PC3_Human4.32863333
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13817452
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05404135
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.95692843
6REST_21632747_ChIP-Seq_MESCs_Mouse2.74358257
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59962549
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59133645
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59133645
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50975981
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50574274
12* RARB_27405468_Chip-Seq_BRAIN_Mouse2.43455847
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.42651798
14DROSHA_22980978_ChIP-Seq_HELA_Human2.42591858
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41471143
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.39107902
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36437188
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.29296013
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27225048
20TAF15_26573619_Chip-Seq_HEK293_Human2.24386032
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.21869671
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17153675
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.14471717
24SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11077728
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.10065188
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.06094517
27IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03891494
28* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.93559704
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.93126150
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.90234293
31AR_21572438_ChIP-Seq_LNCaP_Human1.89336949
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.86842650
33* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.83509490
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.82096077
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.68197441
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.67450161
37P300_19829295_ChIP-Seq_ESCs_Human1.64642612
38SMAD_19615063_ChIP-ChIP_OVARY_Human1.60216506
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57903580
40* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52497428
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.47312411
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44779419
43EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44385918
44FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.44231745
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.44182085
46* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.40972842
47MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40507346
48* AR_25329375_ChIP-Seq_VCAP_Human1.39894722
49* SOX2_21211035_ChIP-Seq_LN229_Gbm1.39572817
50CBX2_27304074_Chip-Seq_ESCs_Mouse1.36882690
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.35723998
52STAT3_23295773_ChIP-Seq_U87_Human1.35600482
53* PIAS1_25552417_ChIP-Seq_VCAP_Human1.35229721
54CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33709088
55FUS_26573619_Chip-Seq_HEK293_Human1.31894504
56ERG_21242973_ChIP-ChIP_JURKAT_Human1.30903856
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30806623
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30180751
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29326299
60ZNF274_21170338_ChIP-Seq_K562_Hela1.29219682
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27996940
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.25783153
63* TCF4_23295773_ChIP-Seq_U87_Human1.25004775
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.24477913
65PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.24067864
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23917498
67* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22948545
68* AR_19668381_ChIP-Seq_PC3_Human1.22825992
69RNF2_27304074_Chip-Seq_NSC_Mouse1.18447704
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.15552980
71RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14992014
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14571154
73LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14125551
74RING1B_27294783_Chip-Seq_ESCs_Mouse1.13985515
75PCGF2_27294783_Chip-Seq_ESCs_Mouse1.13044606
76IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.10442305
77CBP_20019798_ChIP-Seq_JUKART_Human1.10442305
78FLI1_21867929_ChIP-Seq_TH2_Mouse1.07105187
79VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.06951303
80* P53_22387025_ChIP-Seq_ESCs_Mouse1.06638962
81ER_23166858_ChIP-Seq_MCF-7_Human1.06605247
82* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05961951
83YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05825979
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.04839769
85* BCAT_22108803_ChIP-Seq_LS180_Human1.04192422
86RUNX2_22187159_ChIP-Seq_PCA_Human1.04006990
87* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03776094
88UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03472054
89AHR_22903824_ChIP-Seq_MCF-7_Human1.03372892
90IGF1R_20145208_ChIP-Seq_DFB_Human1.02012000
91WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01497636
92* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01294163
93* NANOG_18555785_Chip-Seq_ESCs_Mouse1.00852781
94* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99829359
95DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99621804
96KDM2B_26808549_Chip-Seq_REH_Human0.98312393
97TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.97983598
98VDR_22108803_ChIP-Seq_LS180_Human0.97755306
99SUZ12_27294783_Chip-Seq_NPCs_Mouse0.97743662
100CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97175013
101SMAD3_21741376_ChIP-Seq_HESCs_Human0.96578002
102* CMYC_18555785_Chip-Seq_ESCs_Mouse0.96033957
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.95827042
104FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95701810
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95289035
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.94312306
107TAL1_26923725_Chip-Seq_HPCs_Mouse0.94136261
108SMAD4_21741376_ChIP-Seq_EPCs_Human0.94099886
109SMAD3_21741376_ChIP-Seq_ESCs_Human0.93817361
110TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93697112
111POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93697112
112* TP53_16413492_ChIP-PET_HCT116_Human0.93217112
113JUN_21703547_ChIP-Seq_K562_Human0.93176866
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92852049
115CDX2_19796622_ChIP-Seq_MESCs_Mouse0.91808405
116MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91428984
117SMAD4_21741376_ChIP-Seq_HESCs_Human0.89689918
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89486921
119* SOX9_26525672_Chip-Seq_HEART_Mouse0.88064807
120ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.87969310

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.17191768
2MP0003880_abnormal_central_pattern5.27957568
3MP0003635_abnormal_synaptic_transmissio4.21822793
4* MP0009745_abnormal_behavioral_response3.55550725
5MP0009046_muscle_twitch3.47578370
6MP0004270_analgesia3.41956215
7* MP0002063_abnormal_learning/memory/cond3.37177638
8* MP0002064_seizures3.36012470
9MP0001968_abnormal_touch/_nociception3.27578336
10* MP0002572_abnormal_emotion/affect_behav2.91627110
11MP0002272_abnormal_nervous_system2.76706003
12MP0002736_abnormal_nociception_after2.68744210
13MP0002822_catalepsy2.65368704
14MP0001486_abnormal_startle_reflex2.63873997
15MP0002734_abnormal_mechanical_nocicepti2.59986870
16MP0001501_abnormal_sleep_pattern2.51489549
17MP0005423_abnormal_somatic_nervous2.46832614
18MP0002735_abnormal_chemical_nociception2.27426814
19MP0002067_abnormal_sensory_capabilities2.25081841
20MP0001440_abnormal_grooming_behavior2.15905733
21MP0009780_abnormal_chondrocyte_physiolo2.02507422
22MP0003879_abnormal_hair_cell2.00393892
23MP0008569_lethality_at_weaning1.97790139
24MP0005646_abnormal_pituitary_gland1.93971722
25MP0001970_abnormal_pain_threshold1.85874995
26MP0001984_abnormal_olfaction1.80976702
27MP0002733_abnormal_thermal_nociception1.80845259
28MP0002184_abnormal_innervation1.79122467
29MP0004924_abnormal_behavior1.77927680
30MP0005386_behavior/neurological_phenoty1.77927680
31MP0002557_abnormal_social/conspecific_i1.74196596
32MP0003787_abnormal_imprinting1.70371552
33MP0002909_abnormal_adrenal_gland1.65039995
34MP0005551_abnormal_eye_electrophysiolog1.62978452
35* MP0004811_abnormal_neuron_physiology1.56059771
36MP0000778_abnormal_nervous_system1.55090339
37MP0003329_amyloid_beta_deposits1.54440214
38MP0001502_abnormal_circadian_rhythm1.50976773
39MP0001188_hyperpigmentation1.45115836
40MP0002066_abnormal_motor_capabilities/c1.40781374
41MP0000955_abnormal_spinal_cord1.38398808
42MP0002882_abnormal_neuron_morphology1.38302399
43MP0001529_abnormal_vocalization1.37963573
44MP0003633_abnormal_nervous_system1.36867399
45MP0006276_abnormal_autonomic_nervous1.33698710
46MP0004142_abnormal_muscle_tone1.29971664
47MP0001986_abnormal_taste_sensitivity1.29956093
48MP0004147_increased_porphyrin_level1.26865806
49MP0003195_calcinosis1.21991338
50MP0003122_maternal_imprinting1.20725625
51MP0004858_abnormal_nervous_system1.20118667
52MP0004885_abnormal_endolymph1.19252307
53MP0010386_abnormal_urinary_bladder1.18895415
54MP0001905_abnormal_dopamine_level1.17057981
55MP0003631_nervous_system_phenotype1.13759656
56MP0008872_abnormal_physiological_respon1.12022978
57MP0004145_abnormal_muscle_electrophysio1.11216989
58MP0005645_abnormal_hypothalamus_physiol1.10779357
59MP0002229_neurodegeneration1.07271151
60MP0002090_abnormal_vision1.02233692
61MP0002837_dystrophic_cardiac_calcinosis1.01193716
62* MP0002152_abnormal_brain_morphology1.00714876
63MP0004742_abnormal_vestibular_system1.00618018
64MP0000751_myopathy0.98668915
65MP0003283_abnormal_digestive_organ0.98187000
66MP0002876_abnormal_thyroid_physiology0.93850807
67MP0008874_decreased_physiological_sensi0.93780044
68MP0002069_abnormal_eating/drinking_beha0.92930668
69MP0000013_abnormal_adipose_tissue0.92914784
70MP0004215_abnormal_myocardial_fiber0.92523129
71MP0001963_abnormal_hearing_physiology0.90406468
72MP0004085_abnormal_heartbeat0.89110879
73MP0004233_abnormal_muscle_weight0.84263513
74MP0000569_abnormal_digit_pigmentation0.84179769
75MP0005499_abnormal_olfactory_system0.81936002
76MP0005394_taste/olfaction_phenotype0.81936002
77MP0003121_genomic_imprinting0.81796092
78MP0001177_atelectasis0.81563887
79MP0005535_abnormal_body_temperature0.81405071
80MP0000631_abnormal_neuroendocrine_gland0.79714168
81MP0006072_abnormal_retinal_apoptosis0.78966740
82MP0002752_abnormal_somatic_nervous0.78569844
83MP0003632_abnormal_nervous_system0.75135855
84MP0003183_abnormal_peptide_metabolism0.74736567
85MP0004484_altered_response_of0.72804948
86MP0004130_abnormal_muscle_cell0.71898123
87MP0001664_abnormal_digestion0.71804886
88MP0001765_abnormal_ion_homeostasis0.71398069
89MP0005253_abnormal_eye_physiology0.69966061
90MP0002693_abnormal_pancreas_physiology0.67580826
91MP0003634_abnormal_glial_cell0.67235402
92MP0003690_abnormal_glial_cell0.65308609
93MP0005171_absent_coat_pigmentation0.64483353
94MP0003075_altered_response_to0.62888847
95MP0000604_amyloidosis0.62595301
96MP0001485_abnormal_pinna_reflex0.61414843
97MP0001944_abnormal_pancreas_morphology0.58819200
98MP0003137_abnormal_impulse_conducting0.58328212
99MP0005167_abnormal_blood-brain_barrier0.57493874
100MP0002638_abnormal_pupillary_reflex0.56723793
101MP0000639_abnormal_adrenal_gland0.56657477
102MP0002102_abnormal_ear_morphology0.56638069
103MP0001943_abnormal_respiration0.54281380
104MP0008004_abnormal_stomach_pH0.53973280
105MP0002078_abnormal_glucose_homeostasis0.53952622
106MP0005448_abnormal_energy_balance0.53476383
107MP0000920_abnormal_myelination0.53276428
108MP0008961_abnormal_basal_metabolism0.52312560
109MP0010770_preweaning_lethality0.52204626
110MP0002082_postnatal_lethality0.52204626
111MP0003123_paternal_imprinting0.52182899
112MP0010769_abnormal_survival0.52177388
113MP0008877_abnormal_DNA_methylation0.51909567
114MP0000427_abnormal_hair_cycle0.50871353
115MP0000026_abnormal_inner_ear0.49525877

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.86334735
2Epileptic encephalopathy (HP:0200134)6.26286723
3Focal seizures (HP:0007359)6.03090309
4Atonic seizures (HP:0010819)5.84084703
5Myokymia (HP:0002411)5.78970954
6Febrile seizures (HP:0002373)5.49199517
7Absence seizures (HP:0002121)5.08441797
8Visual hallucinations (HP:0002367)4.98298962
9Dialeptic seizures (HP:0011146)4.72611316
10Hyperventilation (HP:0002883)4.59627028
11Progressive cerebellar ataxia (HP:0002073)4.52580763
12Generalized tonic-clonic seizures (HP:0002069)4.20538146
13Gaze-evoked nystagmus (HP:0000640)4.15482341
14Broad-based gait (HP:0002136)4.14629928
15Dysdiadochokinesis (HP:0002075)3.48492197
16Dysmetric saccades (HP:0000641)3.46456754
17Poor eye contact (HP:0000817)3.44731244
18Action tremor (HP:0002345)3.39819440
19Truncal ataxia (HP:0002078)3.36579252
20Impaired vibration sensation in the lower limbs (HP:0002166)3.23504170
21Depression (HP:0000716)3.11276315
22Impaired social interactions (HP:0000735)3.07511207
23Abnormal social behavior (HP:0012433)3.07511207
24Impaired smooth pursuit (HP:0007772)3.06502768
25Drooling (HP:0002307)3.04137964
26Excessive salivation (HP:0003781)3.04137964
27Dysmetria (HP:0001310)3.03067156
28Abnormal eating behavior (HP:0100738)3.00434407
29Limb dystonia (HP:0002451)2.96794389
30Amblyopia (HP:0000646)2.96408481
31Urinary bladder sphincter dysfunction (HP:0002839)2.93855412
32Epileptiform EEG discharges (HP:0011182)2.91991015
33Scanning speech (HP:0002168)2.87221945
34Postural instability (HP:0002172)2.76848428
35Anxiety (HP:0000739)2.74244896
36Abnormality of the lower motor neuron (HP:0002366)2.73860715
37Abnormality of ocular smooth pursuit (HP:0000617)2.69494020
38Genetic anticipation (HP:0003743)2.69326234
39Hemiparesis (HP:0001269)2.69039256
40Protruding tongue (HP:0010808)2.66725550
41EEG with generalized epileptiform discharges (HP:0011198)2.63513324
42Ankle clonus (HP:0011448)2.63455775
43Absent speech (HP:0001344)2.60347366
44Amyotrophic lateral sclerosis (HP:0007354)2.60043178
45Diplopia (HP:0000651)2.59715351
46Abnormality of binocular vision (HP:0011514)2.59715351
47Supranuclear gaze palsy (HP:0000605)2.59667442
48Status epilepticus (HP:0002133)2.56669825
49Congenital stationary night blindness (HP:0007642)2.53252381
50Akinesia (HP:0002304)2.50157117
51Fetal akinesia sequence (HP:0001989)2.47207925
52Mutism (HP:0002300)2.45491311
53Increased circulating renin level (HP:0000848)2.44873227
54Impaired vibratory sensation (HP:0002495)2.43140684
55Tetraplegia (HP:0002445)2.42337341
56Bradykinesia (HP:0002067)2.38131924
57Hemiplegia (HP:0002301)2.37494614
58Inability to walk (HP:0002540)2.37124489
59Stereotypic behavior (HP:0000733)2.35886902
60Hypsarrhythmia (HP:0002521)2.30834794
61Blue irides (HP:0000635)2.30125345
62Progressive inability to walk (HP:0002505)2.29483872
63Spastic gait (HP:0002064)2.27933648
64Central scotoma (HP:0000603)2.27120148
65Polyphagia (HP:0002591)2.26996736
66Gait imbalance (HP:0002141)2.26235986
67Urinary urgency (HP:0000012)2.21831336
68Muscular hypotonia of the trunk (HP:0008936)2.20898566
69Torticollis (HP:0000473)2.20728600
70Gait ataxia (HP:0002066)2.13416024
71Hypoglycemic seizures (HP:0002173)2.13122133
72Generalized myoclonic seizures (HP:0002123)2.12972945
73Degeneration of the lateral corticospinal tracts (HP:0002314)2.12944570
74Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.12944570
75Intention tremor (HP:0002080)2.12688845
76Abnormality of macular pigmentation (HP:0008002)2.11831567
77Incomplete penetrance (HP:0003829)2.11236789
78Focal dystonia (HP:0004373)2.09217435
79Cerebral hypomyelination (HP:0006808)2.07676099
80Pheochromocytoma (HP:0002666)2.07327370
81Hyperinsulinemic hypoglycemia (HP:0000825)2.07244981
82Spastic tetraplegia (HP:0002510)2.04666918
83Delusions (HP:0000746)2.04027492
84Ventricular fibrillation (HP:0001663)2.02132452
85Abnormality of salivation (HP:0100755)2.01035128
86Insidious onset (HP:0003587)2.00885844
87Termporal pattern (HP:0011008)2.00885844
88Congenital primary aphakia (HP:0007707)2.00012849
89Abnormal EKG (HP:0003115)1.99037339
90Hypoglycemic coma (HP:0001325)1.94872800
91Abnormality of saccadic eye movements (HP:0000570)1.94446493
92Papilledema (HP:0001085)1.94233400
93Medial flaring of the eyebrow (HP:0010747)1.91779652
94Abnormal hair whorl (HP:0010721)1.91748571
95Clonus (HP:0002169)1.91713997
96Abnormality of the corticospinal tract (HP:0002492)1.90671864
97Generalized hypopigmentation of hair (HP:0011358)1.88259477
98Lower limb muscle weakness (HP:0007340)1.87780273
99Specific learning disability (HP:0001328)1.87226662
100Cerebral inclusion bodies (HP:0100314)1.87092229
101Syncope (HP:0001279)1.86627673
102Ketoacidosis (HP:0001993)1.85415521
103Limb ataxia (HP:0002070)1.85257330
104Nephrogenic diabetes insipidus (HP:0009806)1.84114019
105Sleep apnea (HP:0010535)1.82828437
106Morphological abnormality of the pyramidal tract (HP:0002062)1.81759813
107Craniofacial dystonia (HP:0012179)1.80507386
108Insulin-resistant diabetes mellitus (HP:0000831)1.80255840
109Resting tremor (HP:0002322)1.79315924
110Neuroendocrine neoplasm (HP:0100634)1.79000917
111Prolonged QT interval (HP:0001657)1.78949640
112Bundle branch block (HP:0011710)1.77665384
113Diminished movement (HP:0002374)1.77484402
114Widely spaced teeth (HP:0000687)1.77436571
115Fair hair (HP:0002286)1.77216681
116Failure to thrive in infancy (HP:0001531)1.76203677
117Spastic tetraparesis (HP:0001285)1.76165492
118Neuronal loss in central nervous system (HP:0002529)1.75219137
119Rigidity (HP:0002063)1.74870633
120Hypoventilation (HP:0002791)1.73187302
121Psychosis (HP:0000709)1.72446816
122Neurofibrillary tangles (HP:0002185)1.71455650
123Annular pancreas (HP:0001734)1.70676466
124Inappropriate behavior (HP:0000719)1.70141979
125Postural tremor (HP:0002174)1.68797087
126Thickened helices (HP:0000391)1.67329905
127Agitation (HP:0000713)1.67162130

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.34727725
2CASK4.27026272
3NTRK34.27000451
4MAP3K43.33513537
5MAP3K93.21438983
6DAPK22.98282308
7MAP2K72.92291545
8FRK2.52423413
9CDK192.47119576
10MAP3K122.23895686
11MINK12.23429227
12MARK12.18912910
13PAK62.10413003
14PRPF4B2.09230471
15DAPK12.01132052
16MAP2K41.94914447
17PLK21.93399497
18RIPK41.87963130
19TAOK31.79516052
20CAMKK11.72545715
21NTRK21.72189184
22CAMKK21.72167483
23AKT31.63192882
24TNIK1.58935849
25KSR21.57926326
26MAP4K21.56415904
27CCNB11.49322939
28KSR11.45417861
29CDK51.39149140
30OXSR11.37243117
31FGFR21.34929330
32GRK51.32649515
33STK381.29229274
34TXK1.25289528
35MAPK131.25149029
36PRKCG1.22364660
37NTRK11.16749923
38PRKD31.16243974
39MAP3K131.15582731
40ARAF1.15335911
41FES1.13306697
42SGK21.12819223
43SGK2231.12304725
44SGK4941.12304725
45CAMK2A1.11802323
46PTK2B1.02767386
47PNCK0.98608591
48CAMK10.95995137
49SIK20.95835426
50CAMK2B0.95009024
51BMPR20.87921905
52CDK180.87321033
53CDK150.83387879
54SGK30.81338517
55STK110.79900034
56CSNK1G30.78577254
57CDK140.78273905
58MAP3K20.76382407
59DYRK1A0.75134915
60NME10.74272788
61UHMK10.73633222
62SGK10.73270896
63BCR0.72462993
64CSNK1A1L0.71923178
65CDK11A0.71377034
66SIK30.70256863
67PRKCH0.67387657
68BRAF0.66977896
69RAF10.65793224
70TYRO30.64711221
71PDK10.64365949
72TNK20.64351769
73CSNK1G10.63863942
74CAMK2D0.63443480
75ADRBK20.62100760
76PINK10.60831359
77PRKCE0.60536006
78CAMK40.58337575
79PHKG20.56408862
80PHKG10.56408862
81RET0.56052617
82MAP2K60.55754617
83PDPK10.55632848
84TAOK10.54275520
85PKN10.54182947
86FGR0.53103384
87DAPK30.52008389
88FER0.51144674
89PRKCA0.47871148
90CAMK2G0.47788769
91PRKG10.47788377
92CSNK1D0.47746662
93TSSK60.45809506
94MUSK0.45618765
95RPS6KA30.45614141
96NEK60.45143778
97MARK20.44892088
98PAK30.44780731
99MAP3K70.44776626
100PRKACA0.44037493
101PDK30.43561124
102PDK40.43561124
103MAP3K10.43291655
104STK390.42925572
105TRIM280.42197219
106LIMK10.42068915
107GRK60.41958992
108CDC42BPA0.41785440
109PRKAA10.40999301
110NEK10.40971858
111MAP3K60.40670417
112JAK10.38889430
113WNK10.38811251
114MAPK70.38439740
115PRKCB0.38402534
116MAPK120.38025668
117CSNK1G20.37601477
118WNK30.37286616
119CSNK1A10.36494795
120ERBB30.35413758
121PRKCZ0.35071773
122INSRR0.35030136
123MAP2K10.34196000
124GRK10.34162431
125MAPK100.34111246
126FYN0.33857154
127CAMK1G0.33038212
128ADRBK10.33035390

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.40729551
2Synaptic vesicle cycle_Homo sapiens_hsa047213.73198413
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.01303967
4GABAergic synapse_Homo sapiens_hsa047272.90680462
5Circadian entrainment_Homo sapiens_hsa047132.79103583
6Morphine addiction_Homo sapiens_hsa050322.77398189
7Olfactory transduction_Homo sapiens_hsa047402.73068365
8Long-term potentiation_Homo sapiens_hsa047202.68456199
9Glutamatergic synapse_Homo sapiens_hsa047242.65485721
10Amphetamine addiction_Homo sapiens_hsa050312.54565096
11Salivary secretion_Homo sapiens_hsa049702.24167432
12Insulin secretion_Homo sapiens_hsa049112.15794212
13Collecting duct acid secretion_Homo sapiens_hsa049662.11963996
14Dopaminergic synapse_Homo sapiens_hsa047282.09904468
15Taste transduction_Homo sapiens_hsa047421.98633128
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94999460
17Renin secretion_Homo sapiens_hsa049241.81674181
18Gastric acid secretion_Homo sapiens_hsa049711.79278495
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78075389
20Cholinergic synapse_Homo sapiens_hsa047251.77065362
21Long-term depression_Homo sapiens_hsa047301.76617302
22Serotonergic synapse_Homo sapiens_hsa047261.72643729
23Calcium signaling pathway_Homo sapiens_hsa040201.67277253
24Oxytocin signaling pathway_Homo sapiens_hsa049211.65322842
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53555026
26Cocaine addiction_Homo sapiens_hsa050301.49610306
27Vitamin B6 metabolism_Homo sapiens_hsa007501.37420269
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.35102364
29cAMP signaling pathway_Homo sapiens_hsa040241.29103984
30GnRH signaling pathway_Homo sapiens_hsa049121.28909075
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27118786
32Vibrio cholerae infection_Homo sapiens_hsa051101.26006616
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24861852
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23813031
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21761744
36Gap junction_Homo sapiens_hsa045401.21085649
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17718680
38Phototransduction_Homo sapiens_hsa047441.15273630
39Type II diabetes mellitus_Homo sapiens_hsa049301.14934346
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13909447
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09441754
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05834389
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.00637602
44Cardiac muscle contraction_Homo sapiens_hsa042600.98297580
45Regulation of autophagy_Homo sapiens_hsa041400.98231879
46Estrogen signaling pathway_Homo sapiens_hsa049150.95766039
47ErbB signaling pathway_Homo sapiens_hsa040120.93598743
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.92905636
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92394773
50Glioma_Homo sapiens_hsa052140.90994771
51Axon guidance_Homo sapiens_hsa043600.90132763
52Butanoate metabolism_Homo sapiens_hsa006500.87177196
53Pancreatic secretion_Homo sapiens_hsa049720.85043201
54Melanogenesis_Homo sapiens_hsa049160.82998494
55Circadian rhythm_Homo sapiens_hsa047100.78956027
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76027653
57Dilated cardiomyopathy_Homo sapiens_hsa054140.75397087
58Oocyte meiosis_Homo sapiens_hsa041140.69730557
59MAPK signaling pathway_Homo sapiens_hsa040100.69332274
60Thyroid hormone synthesis_Homo sapiens_hsa049180.68441413
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65886429
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.64057961
63Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60221517
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59239299
65Dorso-ventral axis formation_Homo sapiens_hsa043200.58781724
66Choline metabolism in cancer_Homo sapiens_hsa052310.58267177
67Inositol phosphate metabolism_Homo sapiens_hsa005620.58006621
68Ether lipid metabolism_Homo sapiens_hsa005650.55394500
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54792335
70Glucagon signaling pathway_Homo sapiens_hsa049220.54658895
71Type I diabetes mellitus_Homo sapiens_hsa049400.54098942
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51575136
73Fatty acid biosynthesis_Homo sapiens_hsa000610.50975233
74Ras signaling pathway_Homo sapiens_hsa040140.50753226
75Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.50463455
76ABC transporters_Homo sapiens_hsa020100.47612166
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47463590
78Rheumatoid arthritis_Homo sapiens_hsa053230.46343684
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46212192
80mTOR signaling pathway_Homo sapiens_hsa041500.44362295
81Rap1 signaling pathway_Homo sapiens_hsa040150.43856660
82Alcoholism_Homo sapiens_hsa050340.41444130
83Alzheimers disease_Homo sapiens_hsa050100.40577034
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40233175
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40209320
86Mineral absorption_Homo sapiens_hsa049780.40053454
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.38672541
88VEGF signaling pathway_Homo sapiens_hsa043700.38455232
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38366728
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.37739754
91Bile secretion_Homo sapiens_hsa049760.36865930
92African trypanosomiasis_Homo sapiens_hsa051430.36169512
93Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.33962760
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.33559565
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32956449
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.31626674
97Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31234761
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31078617
99Oxidative phosphorylation_Homo sapiens_hsa001900.30093833
100Wnt signaling pathway_Homo sapiens_hsa043100.29905997
101beta-Alanine metabolism_Homo sapiens_hsa004100.29720254
102Endocytosis_Homo sapiens_hsa041440.29321201
103Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.29066312
104Ovarian steroidogenesis_Homo sapiens_hsa049130.28374077
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28343293
106Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27662051
107Renal cell carcinoma_Homo sapiens_hsa052110.27160358
108Nitrogen metabolism_Homo sapiens_hsa009100.26832605
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25712401
110Prion diseases_Homo sapiens_hsa050200.25628995
111Insulin signaling pathway_Homo sapiens_hsa049100.25229090
112Chemokine signaling pathway_Homo sapiens_hsa040620.23723097
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.23509932
114Sphingolipid metabolism_Homo sapiens_hsa006000.19378423
115AMPK signaling pathway_Homo sapiens_hsa041520.18125074
116Arginine biosynthesis_Homo sapiens_hsa002200.18053271
117Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17372425
118Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.17072556

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