CERS1

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 ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.31171127
2locomotory exploration behavior (GO:0035641)6.22451744
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.21034658
4central nervous system myelination (GO:0022010)5.70579408
5axon ensheathment in central nervous system (GO:0032291)5.70579408
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.61737398
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.45709489
8vocalization behavior (GO:0071625)5.33145123
9synaptic vesicle exocytosis (GO:0016079)5.22105604
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.22080103
11glutamate secretion (GO:0014047)5.10898631
12regulation of glutamate receptor signaling pathway (GO:1900449)4.88866343
13regulation of synaptic vesicle exocytosis (GO:2000300)4.84181283
14regulation of synapse structural plasticity (GO:0051823)4.82026326
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.76125127
16layer formation in cerebral cortex (GO:0021819)4.66035310
17cellular potassium ion homeostasis (GO:0030007)4.63605390
18sodium ion export (GO:0071436)4.62030297
19exploration behavior (GO:0035640)4.61250431
20neurotransmitter-gated ion channel clustering (GO:0072578)4.60222297
21regulation of neuronal synaptic plasticity (GO:0048168)4.59948199
22protein localization to synapse (GO:0035418)4.47651143
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.46138428
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.42590002
25neurotransmitter secretion (GO:0007269)4.40444848
26gamma-aminobutyric acid transport (GO:0015812)4.34137559
27regulation of synaptic vesicle transport (GO:1902803)4.33292936
28cerebellar granule cell differentiation (GO:0021707)4.21235817
29neuron cell-cell adhesion (GO:0007158)4.20560085
30dendritic spine morphogenesis (GO:0060997)4.18255393
31presynaptic membrane organization (GO:0097090)4.13278646
32proline transport (GO:0015824)4.10348434
33neuronal action potential propagation (GO:0019227)4.09488519
34synaptic transmission, glutamatergic (GO:0035249)4.07356525
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.07153398
36glutamate receptor signaling pathway (GO:0007215)4.02822794
37presynaptic membrane assembly (GO:0097105)3.96958407
38cell communication by electrical coupling (GO:0010644)3.94090237
39response to auditory stimulus (GO:0010996)3.92297038
40long-term memory (GO:0007616)3.90262097
41cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.84430286
42positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.83420027
43auditory behavior (GO:0031223)3.81634046
44regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.81150282
45neuron-neuron synaptic transmission (GO:0007270)3.73417817
46regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.70915556
47transmission of nerve impulse (GO:0019226)3.69678224
48establishment of mitochondrion localization (GO:0051654)3.68654027
49neuromuscular process controlling balance (GO:0050885)3.68435938
50positive regulation of membrane potential (GO:0045838)3.66734276
51prepulse inhibition (GO:0060134)3.64776702
52regulation of dendritic spine morphogenesis (GO:0061001)3.62414958
53positive regulation of synapse maturation (GO:0090129)3.59925321
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.58930832
55L-amino acid import (GO:0043092)3.53831154
56regulation of synaptic plasticity (GO:0048167)3.53514931
57dendrite morphogenesis (GO:0048813)3.51226672
58positive regulation of synaptic transmission, GABAergic (GO:0032230)3.50614050
59neurotransmitter transport (GO:0006836)3.50477630
60alanine transport (GO:0032328)3.46321661
61regulation of synaptic transmission, glutamatergic (GO:0051966)3.44808320
62regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43093951
63regulation of postsynaptic membrane potential (GO:0060078)3.41441567
64glycine transport (GO:0015816)3.41213699
65activation of protein kinase A activity (GO:0034199)3.41163002
66regulation of synapse maturation (GO:0090128)3.39511525
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.39420410
68synaptic vesicle endocytosis (GO:0048488)3.32456961
69neuromuscular process controlling posture (GO:0050884)3.32402749
70G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.31226047
71regulation of neurotransmitter levels (GO:0001505)3.29709287
72cellular sodium ion homeostasis (GO:0006883)3.29637927
73neurotransmitter uptake (GO:0001504)3.29209538
74astrocyte development (GO:0014002)3.26844856
75positive regulation of dendritic spine development (GO:0060999)3.26817413
76long-term synaptic potentiation (GO:0060291)3.26517989
77regulation of neurotransmitter secretion (GO:0046928)3.26506406
78neuron recognition (GO:0008038)3.26340238
79postsynaptic membrane organization (GO:0001941)3.25069641
80cerebellar Purkinje cell layer development (GO:0021680)3.23484294
81regulation of voltage-gated calcium channel activity (GO:1901385)3.22894250
82innervation (GO:0060384)3.22542824
83axonal fasciculation (GO:0007413)3.21618633
84acidic amino acid transport (GO:0015800)3.21566621
85potassium ion import (GO:0010107)3.21272240
86negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.18908546
87positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.14588137
88cerebellar Purkinje cell differentiation (GO:0021702)3.14128118
89potassium ion homeostasis (GO:0055075)3.13882757
90neuronal ion channel clustering (GO:0045161)3.12442140
91regulation of neurotransmitter transport (GO:0051588)3.09915635
92regulation of vesicle fusion (GO:0031338)3.09891519
93membrane depolarization during action potential (GO:0086010)3.06636383
94membrane hyperpolarization (GO:0060081)3.06601583
95regulation of dendritic spine development (GO:0060998)3.06407230
96synapse assembly (GO:0007416)3.05456296
97neuromuscular synaptic transmission (GO:0007274)3.05410151
98positive regulation of neurotransmitter transport (GO:0051590)3.03358686
99learning (GO:0007612)3.01680325
100dendritic spine organization (GO:0097061)3.01165444
101mitochondrion transport along microtubule (GO:0047497)3.00083213
102establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.00083213
103amino acid import (GO:0043090)2.99366513
104cell migration in hindbrain (GO:0021535)2.99223716
105positive regulation of dendritic spine morphogenesis (GO:0061003)2.97031678
106regulation of ARF protein signal transduction (GO:0032012)2.96912220
107astrocyte differentiation (GO:0048708)2.96528360
108negative regulation of synaptic transmission, GABAergic (GO:0032229)2.96456193
109regulation of respiratory system process (GO:0044065)2.96186543
110membrane depolarization (GO:0051899)2.96004240
111positive regulation of dendrite development (GO:1900006)2.95536599
112positive regulation of synaptic transmission (GO:0050806)2.95287955
113G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.94888244
114negative regulation of cytosolic calcium ion concentration (GO:0051481)2.94306708
115regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.93703935
116regulation of synaptic transmission (GO:0050804)2.92781616
117behavioral fear response (GO:0001662)2.92657942
118behavioral defense response (GO:0002209)2.92657942
119neuromuscular process (GO:0050905)2.92452731
120response to pheromone (GO:0019236)2.92135021
121L-glutamate transport (GO:0015813)2.89997512
122adult walking behavior (GO:0007628)2.80020308
123substantia nigra development (GO:0021762)2.79357279
124mechanosensory behavior (GO:0007638)2.79097133

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.55546779
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14182481
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.11956879
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07150354
5GBX2_23144817_ChIP-Seq_PC3_Human2.98383028
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.88696350
7REST_21632747_ChIP-Seq_MESCs_Mouse2.83288732
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81872996
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81872996
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.78456103
11DROSHA_22980978_ChIP-Seq_HELA_Human2.72299069
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63962625
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.63942169
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.63342904
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57153524
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.54348080
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47390646
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.41842748
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.40748348
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.36872085
21EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.36433762
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.35282878
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.34027273
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31385457
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.31327156
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.27857402
27TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.17777164
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.04446204
29AR_21572438_ChIP-Seq_LNCaP_Human2.00030276
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91593345
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.75083050
32LXR_22292898_ChIP-Seq_THP-1_Human1.59822888
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.58534697
34DNAJC2_21179169_ChIP-ChIP_NT2_Human1.52072439
35RING1B_27294783_Chip-Seq_ESCs_Mouse1.49822457
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44033756
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43048334
38RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.42098719
39ZFP281_18757296_ChIP-ChIP_E14_Mouse1.41290534
40GATA1_26923725_Chip-Seq_HPCs_Mouse1.38894864
41KDM2B_26808549_Chip-Seq_K562_Human1.37682308
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.36126440
43SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.33622565
44SMAD4_21799915_ChIP-Seq_A2780_Human1.32295526
45WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29080803
46EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.28802142
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28176229
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27486071
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27318858
50AR_19668381_ChIP-Seq_PC3_Human1.26998614
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.24989281
52TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.23478786
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.23378905
54ZNF274_21170338_ChIP-Seq_K562_Hela1.21386211
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19017879
56SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.18787939
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18404473
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17877056
59EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13904767
60SMC4_20622854_ChIP-Seq_HELA_Human1.13478541
61SRY_22984422_ChIP-ChIP_TESTIS_Rat1.11030596
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10079707
63AR_25329375_ChIP-Seq_VCAP_Human1.09661732
64SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09062756
65P68_20966046_ChIP-Seq_HELA_Human1.09003529
66VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08763029
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08731319
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07798846
69SMAD3_21741376_ChIP-Seq_EPCs_Human1.07749024
70THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07739877
71OCT4_19829295_ChIP-Seq_ESCs_Human1.06511730
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.06136344
73ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04904545
74SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.04873608
75RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.04627172
76ZFP281_27345836_Chip-Seq_ESCs_Mouse1.04452486
77STAT3_23295773_ChIP-Seq_U87_Human1.03891903
78SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.03096467
79TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.02610834
80TET1_21451524_ChIP-Seq_MESCs_Mouse1.01521254
81SMAD_19615063_ChIP-ChIP_OVARY_Human1.01048272
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00443182
83TET1_21490601_ChIP-Seq_MESCs_Mouse1.00000645
84YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99003785
85ESR2_21235772_ChIP-Seq_MCF-7_Human0.97943586
86CREB1_26743006_Chip-Seq_LNCaP_Human0.97728105
87P300_19829295_ChIP-Seq_ESCs_Human0.97339274
88GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97071345
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.96843951
90MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96839771
91CTCF_27219007_Chip-Seq_Bcells_Human0.96283570
92KDM2B_26808549_Chip-Seq_DND41_Human0.96006249
93ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95892333
94SMAD3_21741376_ChIP-Seq_ESCs_Human0.95808295
95MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95682343
96UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.95653119
97RUNX1_26923725_Chip-Seq_HPCs_Mouse0.92583150
98SMAD3_21741376_ChIP-Seq_HESCs_Human0.92202232
99SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91629299
100DPY_21335234_ChIP-Seq_ESCs_Mouse0.91318621
101CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90923376
102SOX3_22085726_ChIP-Seq_NPCs_Mouse0.90744273
103TP53_20018659_ChIP-ChIP_R1E_Mouse0.90410431
104OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.90183472
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89573783
106TRIM28_21343339_ChIP-Seq_HEK293_Human0.89404131
107TOP2B_26459242_ChIP-Seq_MCF-7_Human0.88635664
108OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88615829
109TCF4_23295773_ChIP-Seq_U87_Human0.88334587
110RXR_22108803_ChIP-Seq_LS180_Human0.87493803
111DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87472919
112KDM2B_26808549_Chip-Seq_JURKAT_Human0.87329842
113ARNT_22903824_ChIP-Seq_MCF-7_Human0.87320869
114KDM2B_26808549_Chip-Seq_SUP-B15_Human0.86766332
115NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.86679303
116PIAS1_25552417_ChIP-Seq_VCAP_Human0.85684138
117PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85457751
118ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85016890
119SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.85013474
120KLF4_19829295_ChIP-Seq_ESCs_Human0.84944384
121SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82883480
122AHR_22903824_ChIP-Seq_MCF-7_Human0.82807570
123TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82574853
124TP53_23651856_ChIP-Seq_MEFs_Mouse0.82551325
125IGF1R_20145208_ChIP-Seq_DFB_Human0.82389937
126TP53_16413492_ChIP-PET_HCT116_Human0.81351802
127POU5F1_16518401_ChIP-PET_MESCs_Mouse0.80540025
128SA1_27219007_Chip-Seq_ERYTHROID_Human0.80443786
129RNF2_27304074_Chip-Seq_NSC_Mouse0.80262764
130ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.80217434
131CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.78855749
132SMAD4_21741376_ChIP-Seq_ESCs_Human0.76090408
133PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.72244685
134SA1_27219007_Chip-Seq_Bcells_Human0.72099096
135MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.72078924
136TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71991996

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.92806673
2MP0003635_abnormal_synaptic_transmissio4.23129563
3MP0003880_abnormal_central_pattern4.02396309
4MP0004270_analgesia3.63369114
5MP0002063_abnormal_learning/memory/cond3.37488542
6MP0009745_abnormal_behavioral_response3.32390386
7MP0002822_catalepsy3.09924172
8MP0002064_seizures3.09415596
9MP0005423_abnormal_somatic_nervous3.06078485
10MP0009046_muscle_twitch2.90866008
11MP0001486_abnormal_startle_reflex2.79762726
12MP0002572_abnormal_emotion/affect_behav2.72909566
13MP0001968_abnormal_touch/_nociception2.62384129
14MP0002734_abnormal_mechanical_nocicepti2.47214253
15MP0002272_abnormal_nervous_system2.40468262
16MP0004858_abnormal_nervous_system2.33525507
17MP0003329_amyloid_beta_deposits2.26479276
18MP0009780_abnormal_chondrocyte_physiolo2.09175261
19MP0008569_lethality_at_weaning2.08987349
20MP0001440_abnormal_grooming_behavior2.07148780
21MP0001501_abnormal_sleep_pattern2.03637242
22MP0002733_abnormal_thermal_nociception1.97783354
23MP0003123_paternal_imprinting1.93203528
24MP0004885_abnormal_endolymph1.90681337
25MP0005646_abnormal_pituitary_gland1.90175949
26MP0002736_abnormal_nociception_after1.90158502
27MP0002909_abnormal_adrenal_gland1.89805440
28MP0001970_abnormal_pain_threshold1.84853559
29MP0000778_abnormal_nervous_system1.84531621
30MP0002735_abnormal_chemical_nociception1.82210791
31MP0004811_abnormal_neuron_physiology1.81552414
32MP0002067_abnormal_sensory_capabilities1.80695627
33MP0002557_abnormal_social/conspecific_i1.80053932
34MP0001984_abnormal_olfaction1.71309710
35MP0005386_behavior/neurological_phenoty1.67979595
36MP0004924_abnormal_behavior1.67979595
37MP0002184_abnormal_innervation1.67470372
38MP0000955_abnormal_spinal_cord1.63453522
39MP0001502_abnormal_circadian_rhythm1.63029311
40MP0002882_abnormal_neuron_morphology1.47933149
41MP0003633_abnormal_nervous_system1.44335554
42MP0003690_abnormal_glial_cell1.42209794
43MP0002066_abnormal_motor_capabilities/c1.41221015
44MP0003879_abnormal_hair_cell1.38462960
45MP0001529_abnormal_vocalization1.38437772
46MP0005645_abnormal_hypothalamus_physiol1.30784677
47MP0000566_synostosis1.25113460
48MP0004142_abnormal_muscle_tone1.23471525
49MP0003075_altered_response_to1.22441981
50MP0003631_nervous_system_phenotype1.21490964
51MP0000751_myopathy1.20139657
52MP0002152_abnormal_brain_morphology1.19655163
53MP0006276_abnormal_autonomic_nervous1.16701580
54MP0005551_abnormal_eye_electrophysiolog1.13701687
55MP0002090_abnormal_vision1.13193839
56MP0003634_abnormal_glial_cell1.11400435
57MP0003787_abnormal_imprinting1.10322435
58MP0003122_maternal_imprinting1.08207622
59MP0001177_atelectasis1.08157981
60MP0001905_abnormal_dopamine_level1.07372129
61MP0002249_abnormal_larynx_morphology1.06321590
62MP0003283_abnormal_digestive_organ1.04449133
63MP0000604_amyloidosis1.04217917
64MP0008961_abnormal_basal_metabolism1.02828290
65MP0009379_abnormal_foot_pigmentation1.02381276
66MP0004233_abnormal_muscle_weight1.00823186
67MP0001346_abnormal_lacrimal_gland1.00797334
68MP0000569_abnormal_digit_pigmentation0.98961245
69MP0002229_neurodegeneration0.97020723
70MP0002069_abnormal_eating/drinking_beha0.96367819
71MP0003136_yellow_coat_color0.95290921
72MP0002638_abnormal_pupillary_reflex0.94469405
73MP0003632_abnormal_nervous_system0.93015942
74MP0003121_genomic_imprinting0.92769018
75MP0003137_abnormal_impulse_conducting0.92652828
76MP0004145_abnormal_muscle_electrophysio0.91493394
77MP0008872_abnormal_physiological_respon0.90415815
78MP0000026_abnormal_inner_ear0.88580978
79MP0000920_abnormal_myelination0.86278682
80MP0003938_abnormal_ear_development0.85963654
81MP0004133_heterotaxia0.84459625
82MP0008874_decreased_physiological_sensi0.83467757
83MP0005167_abnormal_blood-brain_barrier0.82182597
84MP0000631_abnormal_neuroendocrine_gland0.79448607
85MP0005499_abnormal_olfactory_system0.76911955
86MP0005394_taste/olfaction_phenotype0.76911955
87MP0004215_abnormal_myocardial_fiber0.76619202
88MP0004085_abnormal_heartbeat0.76615105
89MP0001299_abnormal_eye_distance/0.76412804
90MP0002752_abnormal_somatic_nervous0.76226142
91MP0005623_abnormal_meninges_morphology0.76145355
92MP0001963_abnormal_hearing_physiology0.74935205
93MP0000579_abnormal_nail_morphology0.74476945
94MP0000013_abnormal_adipose_tissue0.73151443
95MP0005535_abnormal_body_temperature0.73087273
96MP0003172_abnormal_lysosome_physiology0.71231877
97MP0002089_abnormal_postnatal_growth/wei0.70742979
98MP0000462_abnormal_digestive_system0.69865792
99MP0005171_absent_coat_pigmentation0.68570683
100MP0001485_abnormal_pinna_reflex0.67243067
101MP0004742_abnormal_vestibular_system0.66426138
102MP0001348_abnormal_lacrimal_gland0.65868134
103MP0003861_abnormal_nervous_system0.64562343
104MP0002653_abnormal_ependyma_morphology0.64203940
105MP0003119_abnormal_digestive_system0.64169160
106MP0001188_hyperpigmentation0.62030680
107MP0006292_abnormal_olfactory_placode0.61741688
108MP0006072_abnormal_retinal_apoptosis0.61318847
109MP0004130_abnormal_muscle_cell0.60515596
110MP0005409_darkened_coat_color0.59125328
111MP0002234_abnormal_pharynx_morphology0.58692187
112MP0000049_abnormal_middle_ear0.57669924
113MP0001943_abnormal_respiration0.56463252
114MP0010769_abnormal_survival0.55801759
115MP0010386_abnormal_urinary_bladder0.54653018
116MP0005253_abnormal_eye_physiology0.53569404
117MP0003646_muscle_fatigue0.52233926
118MP0010768_mortality/aging0.51841455
119MP0000747_muscle_weakness0.51760517

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.29171055
2Focal motor seizures (HP:0011153)6.63926312
3Focal seizures (HP:0007359)5.13296242
4Visual hallucinations (HP:0002367)4.73194173
5Epileptic encephalopathy (HP:0200134)4.45285171
6Action tremor (HP:0002345)4.11618459
7Progressive cerebellar ataxia (HP:0002073)3.95299886
8Supranuclear gaze palsy (HP:0000605)3.95034074
9Ankle clonus (HP:0011448)3.86999574
10Megalencephaly (HP:0001355)3.81821286
11Febrile seizures (HP:0002373)3.62497344
12Generalized tonic-clonic seizures (HP:0002069)3.48260214
13Depression (HP:0000716)3.47514516
14Atonic seizures (HP:0010819)3.36341043
15Peripheral hypomyelination (HP:0007182)3.35712914
16Absence seizures (HP:0002121)3.35590550
17Abnormality of the lower motor neuron (HP:0002366)3.29246483
18Postural instability (HP:0002172)3.27754491
19Mutism (HP:0002300)3.27562113
20Neurofibrillary tangles (HP:0002185)3.27319936
21Double outlet right ventricle (HP:0001719)3.25863788
22Congenital malformation of the right heart (HP:0011723)3.25863788
23Poor eye contact (HP:0000817)3.22292741
24Impaired vibration sensation in the lower limbs (HP:0002166)3.21844461
25Dysdiadochokinesis (HP:0002075)3.19744951
26Abnormal eating behavior (HP:0100738)3.13508820
27Dialeptic seizures (HP:0011146)3.11194936
28Urinary bladder sphincter dysfunction (HP:0002839)3.08018019
29Impaired social interactions (HP:0000735)2.97901634
30Abnormal social behavior (HP:0012433)2.97901634
31Anomalous pulmonary venous return (HP:0010772)2.96244182
32Hemiparesis (HP:0001269)2.94860189
33Hemiplegia (HP:0002301)2.94597309
34Broad-based gait (HP:0002136)2.94238302
35Cerebral hypomyelination (HP:0006808)2.93236653
36Anxiety (HP:0000739)2.90703723
37Torticollis (HP:0000473)2.89242627
38Cerebral inclusion bodies (HP:0100314)2.89176495
39Turricephaly (HP:0000262)2.88866475
40Dysmetria (HP:0001310)2.88272985
41Papilledema (HP:0001085)2.80402614
42Truncal ataxia (HP:0002078)2.79673261
43Sleep apnea (HP:0010535)2.78936583
44Gaze-evoked nystagmus (HP:0000640)2.78019302
45Akinesia (HP:0002304)2.77583120
46Diplopia (HP:0000651)2.72677335
47Abnormality of binocular vision (HP:0011514)2.72677335
48Genetic anticipation (HP:0003743)2.67713052
49Focal dystonia (HP:0004373)2.63596928
50Urinary urgency (HP:0000012)2.63096416
51Bradykinesia (HP:0002067)2.60476430
52Spastic gait (HP:0002064)2.60441860
53Truncus arteriosus (HP:0001660)2.59363927
54Intention tremor (HP:0002080)2.57716071
55Aplasia involving bones of the extremities (HP:0009825)2.54167367
56Aplasia involving bones of the upper limbs (HP:0009823)2.54167367
57Aplasia of the phalanges of the hand (HP:0009802)2.54167367
58Abnormality of the pulmonary veins (HP:0011718)2.53714951
59Insomnia (HP:0100785)2.53026022
60Stereotypic behavior (HP:0000733)2.45982094
61Annular pancreas (HP:0001734)2.44135822
62Pointed chin (HP:0000307)2.41875606
63Ventricular fibrillation (HP:0001663)2.41501334
64Split foot (HP:0001839)2.40371679
65Lower limb muscle weakness (HP:0007340)2.37824514
66Overriding aorta (HP:0002623)2.35576529
67Excessive salivation (HP:0003781)2.35532785
68Drooling (HP:0002307)2.35532785
69Craniofacial dystonia (HP:0012179)2.34577541
70Impaired smooth pursuit (HP:0007772)2.34232344
71Amblyopia (HP:0000646)2.33358268
72Polyphagia (HP:0002591)2.33095072
73Status epilepticus (HP:0002133)2.33018719
74Epileptiform EEG discharges (HP:0011182)2.25619428
75EEG with generalized epileptiform discharges (HP:0011198)2.24395881
76Hyperacusis (HP:0010780)2.20590541
77Delusions (HP:0000746)2.18294208
78Impaired vibratory sensation (HP:0002495)2.17410889
79Abnormality of ocular smooth pursuit (HP:0000617)2.17068706
80Hyperventilation (HP:0002883)2.16772212
81Hypsarrhythmia (HP:0002521)2.16579051
82Morphological abnormality of the inner ear (HP:0011390)2.14991891
83Degeneration of the lateral corticospinal tracts (HP:0002314)2.14986464
84Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.14986464
85Increased circulating renin level (HP:0000848)2.14752575
86Clonus (HP:0002169)2.13371446
87Fetal akinesia sequence (HP:0001989)2.13194912
88Scanning speech (HP:0002168)2.11690065
89Obstructive sleep apnea (HP:0002870)2.09539099
90Elfin facies (HP:0004428)2.09197551
91Progressive inability to walk (HP:0002505)2.07746947
92Rigidity (HP:0002063)2.05643570
93Ankyloglossia (HP:0010296)2.04918332
94Limb dystonia (HP:0002451)2.04694188
95Dysmetric saccades (HP:0000641)2.04587393
96Spastic tetraparesis (HP:0001285)2.03586753
97Abnormal ventriculo-arterial connection (HP:0011563)1.99239210
98Transposition of the great arteries (HP:0001669)1.99239210
99Abnormal connection of the cardiac segments (HP:0011545)1.99239210
100Abnormal EKG (HP:0003115)1.97346223
101Abnormality of the corticospinal tract (HP:0002492)1.92887725
102Incomplete penetrance (HP:0003829)1.92712895
103Insidious onset (HP:0003587)1.91857374
104Termporal pattern (HP:0011008)1.91857374
105Generalized myoclonic seizures (HP:0002123)1.90668775
106Pheochromocytoma (HP:0002666)1.89020547
107Apathy (HP:0000741)1.87944919
108Neuronal loss in central nervous system (HP:0002529)1.87262122
109Choreoathetosis (HP:0001266)1.87127890
110Bundle branch block (HP:0011710)1.86682226
111CNS hypomyelination (HP:0003429)1.85347780
112Amyotrophic lateral sclerosis (HP:0007354)1.84366441
113Bronchomalacia (HP:0002780)1.83413827
114Hyperthyroidism (HP:0000836)1.80402522
115Abnormality of cochlea (HP:0000375)1.79677314
116Abnormality of the diencephalon (HP:0010662)1.78166913
117Prolonged QT interval (HP:0001657)1.76165743
118Resting tremor (HP:0002322)1.75374106
119Renovascular hypertension (HP:0100817)1.75143315
120Partial duplication of thumb phalanx (HP:0009944)1.75109332
121Morphological abnormality of the pyramidal tract (HP:0002062)1.74507847
122Lower limb amyotrophy (HP:0007210)1.74431483
123Agitation (HP:0000713)1.74268394
124Gait ataxia (HP:0002066)1.73631946
125Absent speech (HP:0001344)1.72384082
126Abnormality of saccadic eye movements (HP:0000570)1.71534623
127Clumsiness (HP:0002312)1.70148252
128Rapidly progressive (HP:0003678)1.69606942
129Tetraplegia (HP:0002445)1.68731711
130Neoplasm of the heart (HP:0100544)1.68195846
131Hypoventilation (HP:0002791)1.66624710
132Diminished motivation (HP:0000745)1.65926322

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.14445089
2NTRK34.05251785
3MAP3K94.04830445
4MARK13.28233330
5MINK12.79152608
6NTRK22.69971734
7PAK62.54256427
8PRKD32.52918773
9MAP3K42.48976567
10DAPK22.30591286
11KSR22.22149817
12CAMKK12.01627635
13PHKG21.93985031
14PHKG11.93985031
15MAP2K71.86009749
16LMTK21.81033939
17NTRK11.79852372
18KSR11.73001035
19TNIK1.63077896
20CDK51.59909394
21STK381.47524943
22PRPF4B1.44052042
23MAP2K41.43639228
24TYRO31.42258499
25TAOK11.32328367
26PKN11.30452036
27SIK21.21010117
28PRKCG1.20845928
29MAPK131.19993700
30DAPK11.19098711
31MAP3K131.18983006
32ARAF1.13950957
33LATS21.12768682
34RIPK41.08813601
35UHMK11.08551037
36FES1.04811950
37MAP3K21.04737083
38SGK4941.02547127
39SGK2231.02547127
40CDK191.02212701
41MAP3K121.01302602
42CDK180.99586033
43CDK150.98355113
44PLK20.97998456
45GRK50.97222274
46CAMK10.97019951
47PRKCH0.96115330
48CAMKK20.92967446
49CDK140.91305077
50PINK10.89578109
51DYRK20.89319960
52NEK10.88103081
53ALK0.86550791
54CDK11A0.86545436
55STK110.85548424
56CASK0.82824012
57SGK20.82557587
58CAMK2D0.81711147
59CAMK2A0.80721730
60BRAF0.79919220
61SGK30.79784145
62RET0.77655162
63MARK20.75349320
64PAK30.74518487
65RIPK10.74100870
66RAF10.70091636
67DYRK1A0.69261714
68LIMK10.67949443
69PNCK0.65850839
70SGK10.64521180
71PDK10.59889314
72TAOK20.58349365
73PDPK10.58037061
74MAP3K70.57858657
75TNK20.56365868
76CSNK1G20.55841075
77CAMK2B0.55630169
78DDR20.54639299
79RPS6KA30.54368216
80PRKCZ0.52358390
81CAMK1G0.52250492
82MAP3K110.51730731
83CDC42BPA0.51098562
84CAMK1D0.51091146
85BRSK10.49632403
86DMPK0.49330549
87PTK2B0.49229510
88CSNK1G30.48835703
89NEK60.48603838
90DAPK30.48404463
91ERBB20.47511612
92MAP3K10.47167463
93MAPK100.46510604
94FYN0.45994260
95SCYL20.45286992
96CAMK40.44434004
97FGFR20.42523074
98CSNK1A1L0.41958595
99MAP2K60.41351546
100MAPKAPK50.40559938
101MAPK120.40072753
102CSNK1E0.39740565
103ICK0.39448034
104AKT20.38592256
105ROCK10.37753916
106PDGFRA0.37075984
107DYRK1B0.36637255
108MAP2K10.36585285
109WNK10.36531977
110OXSR10.35936126
111TRIB30.35788885
112PRKG10.35615989
113PRKCE0.35553223
114GSK3B0.35439881
115CAMK2G0.35263423
116MAPK80.35229129
117CSNK1D0.33788868
118BMX0.33302261
119FGR0.32966146
120PRKDC0.32786377
121MAPK40.32457353
122ROCK20.32336046

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.40594871
2Synaptic vesicle cycle_Homo sapiens_hsa047213.15848574
3Olfactory transduction_Homo sapiens_hsa047402.78093950
4GABAergic synapse_Homo sapiens_hsa047272.73489217
5Circadian entrainment_Homo sapiens_hsa047132.65542894
6Glutamatergic synapse_Homo sapiens_hsa047242.53280082
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41746123
8Morphine addiction_Homo sapiens_hsa050322.41411589
9Long-term potentiation_Homo sapiens_hsa047202.40081277
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.38130019
11Amphetamine addiction_Homo sapiens_hsa050312.26962480
12Salivary secretion_Homo sapiens_hsa049702.15998543
13Insulin secretion_Homo sapiens_hsa049112.09983267
14Nitrogen metabolism_Homo sapiens_hsa009102.06620447
15Dopaminergic synapse_Homo sapiens_hsa047282.02609380
16Gastric acid secretion_Homo sapiens_hsa049711.93379933
17Cholinergic synapse_Homo sapiens_hsa047251.92019891
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84904609
19Cocaine addiction_Homo sapiens_hsa050301.79129592
20Vitamin B6 metabolism_Homo sapiens_hsa007501.78526466
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74627733
22Oxytocin signaling pathway_Homo sapiens_hsa049211.61483821
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.60968327
24Renin secretion_Homo sapiens_hsa049241.54983931
25Calcium signaling pathway_Homo sapiens_hsa040201.53646220
26Long-term depression_Homo sapiens_hsa047301.46619175
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.45727849
28GnRH signaling pathway_Homo sapiens_hsa049121.44456656
29Serotonergic synapse_Homo sapiens_hsa047261.43152453
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43059309
31Taste transduction_Homo sapiens_hsa047421.38435695
32Gap junction_Homo sapiens_hsa045401.35108890
33cAMP signaling pathway_Homo sapiens_hsa040241.29841427
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22465682
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.16201983
36Glioma_Homo sapiens_hsa052141.15147266
37Axon guidance_Homo sapiens_hsa043601.13681338
38Type II diabetes mellitus_Homo sapiens_hsa049301.12669613
39Melanogenesis_Homo sapiens_hsa049161.09951175
40Estrogen signaling pathway_Homo sapiens_hsa049151.08773531
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03048625
42Arginine and proline metabolism_Homo sapiens_hsa003301.00061118
43ErbB signaling pathway_Homo sapiens_hsa040120.98684365
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98438117
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.96997338
46Fatty acid biosynthesis_Homo sapiens_hsa000610.96067326
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91269141
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.91113141
49Collecting duct acid secretion_Homo sapiens_hsa049660.90303718
50Cardiac muscle contraction_Homo sapiens_hsa042600.87318181
51Dorso-ventral axis formation_Homo sapiens_hsa043200.86112101
52Dilated cardiomyopathy_Homo sapiens_hsa054140.83723832
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83430553
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.83183445
55Oocyte meiosis_Homo sapiens_hsa041140.81420649
56Pancreatic secretion_Homo sapiens_hsa049720.80225411
57Thyroid hormone synthesis_Homo sapiens_hsa049180.79735331
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77287830
59Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76789774
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74092424
61Choline metabolism in cancer_Homo sapiens_hsa052310.71130117
62Alzheimers disease_Homo sapiens_hsa050100.70270749
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70006606
64Hippo signaling pathway_Homo sapiens_hsa043900.69899281
65Bile secretion_Homo sapiens_hsa049760.69255313
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.69245835
67MAPK signaling pathway_Homo sapiens_hsa040100.68439353
68Circadian rhythm_Homo sapiens_hsa047100.66662075
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65813144
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63764348
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63216444
72Glucagon signaling pathway_Homo sapiens_hsa049220.61496028
73Vibrio cholerae infection_Homo sapiens_hsa051100.59083225
74Rap1 signaling pathway_Homo sapiens_hsa040150.58487924
75mTOR signaling pathway_Homo sapiens_hsa041500.58019714
76Histidine metabolism_Homo sapiens_hsa003400.57870833
77beta-Alanine metabolism_Homo sapiens_hsa004100.57643940
78VEGF signaling pathway_Homo sapiens_hsa043700.56186253
79Endocytosis_Homo sapiens_hsa041440.55800075
80Alcoholism_Homo sapiens_hsa050340.55751347
81Notch signaling pathway_Homo sapiens_hsa043300.54792731
82Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54213361
83Sulfur relay system_Homo sapiens_hsa041220.54131247
84Endometrial cancer_Homo sapiens_hsa052130.52967483
85Ras signaling pathway_Homo sapiens_hsa040140.51715534
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50934353
87Phototransduction_Homo sapiens_hsa047440.49749290
88* Sphingolipid signaling pathway_Homo sapiens_hsa040710.49168703
89Oxidative phosphorylation_Homo sapiens_hsa001900.48298569
90Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47296269
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47146616
92Prion diseases_Homo sapiens_hsa050200.46180534
93Insulin signaling pathway_Homo sapiens_hsa049100.46024216
94Renal cell carcinoma_Homo sapiens_hsa052110.45834802
95Wnt signaling pathway_Homo sapiens_hsa043100.45501935
96Non-small cell lung cancer_Homo sapiens_hsa052230.44586371
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44108121
98Hedgehog signaling pathway_Homo sapiens_hsa043400.43963350
99Type I diabetes mellitus_Homo sapiens_hsa049400.43616600
100Parkinsons disease_Homo sapiens_hsa050120.43572835
101Tight junction_Homo sapiens_hsa045300.43239278
102Basal cell carcinoma_Homo sapiens_hsa052170.43096301
103Arginine biosynthesis_Homo sapiens_hsa002200.42426257
104Inositol phosphate metabolism_Homo sapiens_hsa005620.41633593
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.39411124
1062-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.39163899
107AMPK signaling pathway_Homo sapiens_hsa041520.38029545
108Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.37106528
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.36841036
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32877758
111Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32616727
112Ovarian steroidogenesis_Homo sapiens_hsa049130.31173233
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.31099324
114Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.30611644
115Chemokine signaling pathway_Homo sapiens_hsa040620.29747115
116Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.28361693
117Mineral absorption_Homo sapiens_hsa049780.28002168
118Colorectal cancer_Homo sapiens_hsa052100.27590797

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