PNMA3

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: The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.46100520
2synaptic vesicle maturation (GO:0016188)6.09295384
3locomotory exploration behavior (GO:0035641)5.81011958
4vocalization behavior (GO:0071625)5.71564895
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.71188293
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.53693951
7synaptic vesicle exocytosis (GO:0016079)5.34398625
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.31019856
9glutamate secretion (GO:0014047)5.28011931
10regulation of synaptic vesicle exocytosis (GO:2000300)5.27724141
11neuron cell-cell adhesion (GO:0007158)5.18984281
12regulation of glutamate receptor signaling pathway (GO:1900449)5.17375325
13ionotropic glutamate receptor signaling pathway (GO:0035235)5.02570561
14exploration behavior (GO:0035640)4.70888750
15neurotransmitter secretion (GO:0007269)4.70028631
16protein localization to synapse (GO:0035418)4.69199123
17synaptic vesicle docking involved in exocytosis (GO:0016081)4.67730274
18regulation of synaptic vesicle transport (GO:1902803)4.67458791
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.66882711
20cerebellar granule cell differentiation (GO:0021707)4.54863400
21regulation of neuronal synaptic plasticity (GO:0048168)4.52403187
22neuronal action potential propagation (GO:0019227)4.49673111
23gamma-aminobutyric acid transport (GO:0015812)4.48421877
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.43785875
25layer formation in cerebral cortex (GO:0021819)4.43308782
26amino acid import (GO:0043090)4.37349927
27glutamate receptor signaling pathway (GO:0007215)4.37236422
28dendritic spine morphogenesis (GO:0060997)4.21355611
29regulation of voltage-gated calcium channel activity (GO:1901385)4.18106239
30synaptic transmission, glutamatergic (GO:0035249)4.17615512
31proline transport (GO:0015824)4.15584619
32neuron recognition (GO:0008038)4.12767807
33cellular potassium ion homeostasis (GO:0030007)4.04843024
34regulation of ARF protein signal transduction (GO:0032012)4.00947241
35neurotransmitter transport (GO:0006836)4.00452887
36long-term memory (GO:0007616)3.95751369
37positive regulation of neurotransmitter secretion (GO:0001956)3.95532096
38synaptic vesicle endocytosis (GO:0048488)3.95094705
39neuron-neuron synaptic transmission (GO:0007270)3.90342239
40positive regulation of synaptic transmission, GABAergic (GO:0032230)3.90043485
41postsynaptic membrane organization (GO:0001941)3.88732485
42neurotransmitter-gated ion channel clustering (GO:0072578)3.85682063
43axonal fasciculation (GO:0007413)3.84991014
44neuromuscular process controlling posture (GO:0050884)3.82035045
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.76513815
46regulation of synapse structural plasticity (GO:0051823)3.74075067
47negative regulation of dendrite morphogenesis (GO:0050774)3.71401875
48positive regulation of membrane potential (GO:0045838)3.70382919
49sodium ion export (GO:0071436)3.69364970
50regulation of excitatory postsynaptic membrane potential (GO:0060079)3.69073035
51transmission of nerve impulse (GO:0019226)3.68428470
52regulation of synapse maturation (GO:0090128)3.67967638
53regulation of neurotransmitter levels (GO:0001505)3.67790447
54potassium ion homeostasis (GO:0055075)3.67089780
55positive regulation of dendritic spine morphogenesis (GO:0061003)3.64850146
56dendritic spine organization (GO:0097061)3.64289308
57activation of protein kinase A activity (GO:0034199)3.57955957
58cerebellar Purkinje cell differentiation (GO:0021702)3.57593967
59central nervous system myelination (GO:0022010)3.56683553
60axon ensheathment in central nervous system (GO:0032291)3.56683553
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.55202620
62potassium ion import (GO:0010107)3.55099558
63regulation of postsynaptic membrane potential (GO:0060078)3.54152538
64regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.51259774
65negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.49327912
66membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.49139817
67presynaptic membrane assembly (GO:0097105)3.48232619
68regulation of synaptic plasticity (GO:0048167)3.47896917
69neuromuscular synaptic transmission (GO:0007274)3.47734434
70acidic amino acid transport (GO:0015800)3.47223606
71establishment of synaptic vesicle localization (GO:0097480)3.45969796
72synaptic vesicle transport (GO:0048489)3.45969796
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43478623
74regulation of neurotransmitter secretion (GO:0046928)3.42245602
75cell communication by electrical coupling (GO:0010644)3.41280130
76regulation of dendritic spine morphogenesis (GO:0061001)3.41236899
77regulation of vesicle fusion (GO:0031338)3.40255477
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37287641
79long-term synaptic potentiation (GO:0060291)3.37211127
80G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.37123339
81positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.35172521
82neurotransmitter uptake (GO:0001504)3.34641400
83response to auditory stimulus (GO:0010996)3.33889235
84neuromuscular process controlling balance (GO:0050885)3.31867860
85negative regulation of synaptic transmission, GABAergic (GO:0032229)3.31691831
86glycine transport (GO:0015816)3.29994994
87vesicle docking involved in exocytosis (GO:0006904)3.27206782
88cellular sodium ion homeostasis (GO:0006883)3.26860489
89regulation of synaptic transmission, glutamatergic (GO:0051966)3.26395762
90regulation of dendritic spine development (GO:0060998)3.25236570
91presynaptic membrane organization (GO:0097090)3.25200926
92dendrite morphogenesis (GO:0048813)3.24868280
93positive regulation of synapse maturation (GO:0090129)3.19304390
94cell differentiation in hindbrain (GO:0021533)3.19223845
95vesicle transport along microtubule (GO:0047496)3.18010777
96regulation of neurotransmitter transport (GO:0051588)3.17596311
97intraspecies interaction between organisms (GO:0051703)3.16580210
98social behavior (GO:0035176)3.16580210
99positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.16159207
100neuronal ion channel clustering (GO:0045161)3.15583415
101auditory behavior (GO:0031223)3.12900949
102membrane depolarization during action potential (GO:0086010)3.11813089
103prepulse inhibition (GO:0060134)3.10771434
104membrane depolarization (GO:0051899)3.10547435
105membrane hyperpolarization (GO:0060081)3.10217553
106behavioral defense response (GO:0002209)3.09074255
107behavioral fear response (GO:0001662)3.09074255
108response to histamine (GO:0034776)3.09016372
109regulation of exocytosis (GO:0017157)3.08879169
110G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08307507
111cell migration in hindbrain (GO:0021535)3.06660034
112mating behavior (GO:0007617)3.05733136
113regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.05254732
114regulation of respiratory system process (GO:0044065)3.04573672
115L-amino acid import (GO:0043092)3.04456530
116positive regulation of synaptic transmission (GO:0050806)3.04385663
117synapse assembly (GO:0007416)3.04371887
118vesicle docking (GO:0048278)3.04056255
119regulation of synaptic transmission (GO:0050804)3.03791480
120regulation of female receptivity (GO:0045924)3.03450787
121L-glutamate transport (GO:0015813)3.03127083
122learning (GO:0007612)3.03093801
123positive regulation of potassium ion transmembrane transport (GO:1901381)3.02255683
124signal release (GO:0023061)3.02100342
125synaptic transmission (GO:0007268)3.01914055
126positive regulation of dendritic spine development (GO:0060999)3.00516674
127cerebellar Purkinje cell layer development (GO:0021680)2.99805350
128adult walking behavior (GO:0007628)2.98719901
129innervation (GO:0060384)2.97258272
130positive regulation of neurotransmitter transport (GO:0051590)2.97001790

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.51071524
2GBX2_23144817_ChIP-Seq_PC3_Human3.31702081
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15922450
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08835888
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07546255
6REST_21632747_ChIP-Seq_MESCs_Mouse2.85680395
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76312029
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76312029
9THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.71110869
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68748717
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63235364
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.60706874
13DROSHA_22980978_ChIP-Seq_HELA_Human2.58965897
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55629126
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54282061
16CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.51645514
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.51061297
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.48404630
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47956648
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.41430457
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.36283953
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.33661287
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.29149517
24SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26839201
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.22922523
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.21954411
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.12067709
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.92820012
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86162055
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.79774014
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76864075
32AR_21572438_ChIP-Seq_LNCaP_Human1.76391907
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72370983
34ZNF274_21170338_ChIP-Seq_K562_Hela1.72299694
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.67700081
36TAF15_26573619_Chip-Seq_HEK293_Human1.66312864
37SMAD4_21799915_ChIP-Seq_A2780_Human1.62595099
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52630671
39IGF1R_20145208_ChIP-Seq_DFB_Human1.52195781
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.40606239
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37389347
42ZFP281_27345836_Chip-Seq_ESCs_Mouse1.36539128
43TET1_21490601_ChIP-Seq_MESCs_Mouse1.36480762
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.34289221
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32207290
46DNAJC2_21179169_ChIP-ChIP_NT2_Human1.30205559
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.29782126
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.29283192
49SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28847864
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.28828412
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28550961
52P300_19829295_ChIP-Seq_ESCs_Human1.28206127
53GATA1_26923725_Chip-Seq_HPCs_Mouse1.26289130
54SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.25529679
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25254318
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.23013770
57SRY_22984422_ChIP-ChIP_TESTIS_Rat1.21925913
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.21886307
59AR_25329375_ChIP-Seq_VCAP_Human1.21737164
60OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.21410825
61AR_19668381_ChIP-Seq_PC3_Human1.18767490
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.18414754
63TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15094345
64RNF2_27304074_Chip-Seq_NSC_Mouse1.12637601
65WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11677809
66RING1B_27294783_Chip-Seq_NPCs_Mouse1.11604658
67ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.11252676
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10302921
69STAT3_23295773_ChIP-Seq_U87_Human1.09968092
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09498227
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09201096
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.08042325
73OCT4_19829295_ChIP-Seq_ESCs_Human1.07993367
74MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07966263
75* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07305128
76CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.07104229
77STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06869966
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.05085432
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04995019
80OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04303852
81LXR_22292898_ChIP-Seq_THP-1_Human1.03501708
82* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.02522410
83TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01920205
84SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00640165
85TCF4_23295773_ChIP-Seq_U87_Human1.00566651
86DPY_21335234_ChIP-Seq_ESCs_Mouse1.00463974
87ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99705451
88SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99462065
89WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.98833935
90YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97638080
91KDM2B_26808549_Chip-Seq_K562_Human0.97443049
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97229987
93SMC4_20622854_ChIP-Seq_HELA_Human0.96756597
94P53_22127205_ChIP-Seq_FIBROBLAST_Human0.96406067
95NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95921338
96TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94632361
97RUNX2_22187159_ChIP-Seq_PCA_Human0.93647730
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92768182
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92450557
100ARNT_22903824_ChIP-Seq_MCF-7_Human0.92312899
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.91446134
102ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91155217
103PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90704608
104VDR_22108803_ChIP-Seq_LS180_Human0.89838270
105KDM2B_26808549_Chip-Seq_DND41_Human0.89480098
106EGR1_19032775_ChIP-ChIP_M12_Human0.87327327
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.87323873
108KLF4_19829295_ChIP-Seq_ESCs_Human0.86312310
109FUS_26573619_Chip-Seq_HEK293_Human0.86202207
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86046896
111AHR_22903824_ChIP-Seq_MCF-7_Human0.85654439
112CTCF_27219007_Chip-Seq_Bcells_Human0.84917787
113GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84734629
114RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.84384396
115RXR_22108803_ChIP-Seq_LS180_Human0.84219122
116CREB1_26743006_Chip-Seq_LNCaP_Human0.83780340
117AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83280384
118TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.82993531
119JUN_21703547_ChIP-Seq_K562_Human0.82879443
120* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82303216
121UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.81852438
122POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81797738
123TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81797738
124DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79934049
125SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79812129
126KDM2B_26808549_Chip-Seq_JURKAT_Human0.79353305
127P68_20966046_ChIP-Seq_HELA_Human0.78813877
128SMAD4_21741376_ChIP-Seq_ESCs_Human0.75475063
129RUNX1_26923725_Chip-Seq_HPCs_Mouse0.75167234
130TP53_20018659_ChIP-ChIP_R1E_Mouse0.72701721
131MYC_19915707_ChIP-ChIP_AK7_Human0.71845377
132LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.69175446
133EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.68283337

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.50701730
2MP0003880_abnormal_central_pattern5.56444203
3MP0003635_abnormal_synaptic_transmissio4.14534667
4MP0009745_abnormal_behavioral_response3.41943140
5MP0004270_analgesia3.31982571
6MP0002064_seizures3.23682627
7MP0009046_muscle_twitch3.22924873
8MP0002063_abnormal_learning/memory/cond3.17639242
9MP0005423_abnormal_somatic_nervous3.13177304
10MP0001968_abnormal_touch/_nociception2.97249838
11MP0002572_abnormal_emotion/affect_behav2.78635384
12MP0002272_abnormal_nervous_system2.59596141
13MP0001486_abnormal_startle_reflex2.52142126
14MP0001501_abnormal_sleep_pattern2.48174551
15MP0002734_abnormal_mechanical_nocicepti2.47872414
16MP0001440_abnormal_grooming_behavior2.21059867
17MP0003122_maternal_imprinting2.12523106
18MP0002736_abnormal_nociception_after2.11274216
19MP0003787_abnormal_imprinting2.08097127
20MP0006276_abnormal_autonomic_nervous2.01696056
21MP0002733_abnormal_thermal_nociception1.99543327
22MP0005645_abnormal_hypothalamus_physiol1.98808596
23MP0002735_abnormal_chemical_nociception1.97832266
24MP0002067_abnormal_sensory_capabilities1.97134363
25MP0003329_amyloid_beta_deposits1.92380208
26MP0001970_abnormal_pain_threshold1.90303698
27MP0000778_abnormal_nervous_system1.88680348
28MP0005646_abnormal_pituitary_gland1.84858505
29MP0002184_abnormal_innervation1.81014123
30MP0002557_abnormal_social/conspecific_i1.79774121
31MP0004924_abnormal_behavior1.74543743
32MP0005386_behavior/neurological_phenoty1.74543743
33MP0004858_abnormal_nervous_system1.73383537
34MP0008569_lethality_at_weaning1.73190670
35MP0004811_abnormal_neuron_physiology1.68895912
36MP0002822_catalepsy1.67761625
37MP0009780_abnormal_chondrocyte_physiolo1.65934881
38MP0000955_abnormal_spinal_cord1.62336599
39MP0002909_abnormal_adrenal_gland1.62131551
40MP0004142_abnormal_muscle_tone1.57580666
41MP0001984_abnormal_olfaction1.53231537
42MP0004885_abnormal_endolymph1.45811909
43MP0002066_abnormal_motor_capabilities/c1.42573269
44MP0002882_abnormal_neuron_morphology1.41067717
45MP0001905_abnormal_dopamine_level1.31797274
46MP0001529_abnormal_vocalization1.29655750
47MP0003879_abnormal_hair_cell1.29219573
48MP0003633_abnormal_nervous_system1.29198449
49MP0001502_abnormal_circadian_rhythm1.18060480
50MP0003123_paternal_imprinting1.14886390
51MP0002152_abnormal_brain_morphology1.13021042
52MP0003631_nervous_system_phenotype1.10902219
53MP0003690_abnormal_glial_cell1.05629102
54MP0008872_abnormal_physiological_respon1.05135319
55MP0005499_abnormal_olfactory_system1.04811769
56MP0005394_taste/olfaction_phenotype1.04811769
57MP0002638_abnormal_pupillary_reflex1.04073312
58MP0000751_myopathy1.01656737
59MP0003283_abnormal_digestive_organ1.00232017
60MP0002229_neurodegeneration0.99240131
61MP0001177_atelectasis0.97472039
62MP0004145_abnormal_muscle_electrophysio0.94113968
63MP0003121_genomic_imprinting0.93427486
64MP0000569_abnormal_digit_pigmentation0.93067719
65MP0005551_abnormal_eye_electrophysiolog0.92578846
66MP0001986_abnormal_taste_sensitivity0.92563831
67MP0003634_abnormal_glial_cell0.92485540
68MP0002069_abnormal_eating/drinking_beha0.92315303
69MP0002837_dystrophic_cardiac_calcinosis0.90134265
70MP0000920_abnormal_myelination0.88063903
71MP0003632_abnormal_nervous_system0.86246089
72MP0004147_increased_porphyrin_level0.85961369
73MP0000631_abnormal_neuroendocrine_gland0.80857010
74MP0000604_amyloidosis0.80831870
75MP0003075_altered_response_to0.80501866
76MP0008874_decreased_physiological_sensi0.79806627
77MP0004742_abnormal_vestibular_system0.78160348
78MP0000013_abnormal_adipose_tissue0.77319461
79MP0002752_abnormal_somatic_nervous0.75903334
80MP0001963_abnormal_hearing_physiology0.75372234
81MP0005535_abnormal_body_temperature0.75259203
82MP0001188_hyperpigmentation0.74005766
83MP0001346_abnormal_lacrimal_gland0.73591610
84MP0004085_abnormal_heartbeat0.72514029
85MP0010386_abnormal_urinary_bladder0.71469696
86MP0008961_abnormal_basal_metabolism0.70339819
87MP0003137_abnormal_impulse_conducting0.67453675
88MP0006072_abnormal_retinal_apoptosis0.66876347
89MP0002090_abnormal_vision0.65940733
90MP0001348_abnormal_lacrimal_gland0.65177570
91MP0003172_abnormal_lysosome_physiology0.64049588
92MP0006292_abnormal_olfactory_placode0.63817746
93MP0001943_abnormal_respiration0.61138963
94MP0002102_abnormal_ear_morphology0.59425404
95MP0005167_abnormal_blood-brain_barrier0.58066008
96MP0001664_abnormal_digestion0.57591858
97MP0004130_abnormal_muscle_cell0.57528426
98MP0003861_abnormal_nervous_system0.57391954
99MP0010769_abnormal_survival0.55723310
100MP0002653_abnormal_ependyma_morphology0.55662080
101MP0008877_abnormal_DNA_methylation0.55608751
102MP0004233_abnormal_muscle_weight0.55262186
103MP0010770_preweaning_lethality0.55081806
104MP0002082_postnatal_lethality0.55081806
105MP0001485_abnormal_pinna_reflex0.54744040
106MP0005623_abnormal_meninges_morphology0.54374864
107MP0010768_mortality/aging0.52389348
108MP0000026_abnormal_inner_ear0.50331278
109MP0003938_abnormal_ear_development0.50059942
110MP0003956_abnormal_body_size0.49671710
111MP0002873_normal_phenotype0.47138666
112MP0003183_abnormal_peptide_metabolism0.47003826
113MP0002169_no_abnormal_phenotype0.45791018
114MP0000639_abnormal_adrenal_gland0.42364078

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.53093880
2Myokymia (HP:0002411)6.54733387
3Focal seizures (HP:0007359)5.65608515
4Visual hallucinations (HP:0002367)5.58082715
5Progressive cerebellar ataxia (HP:0002073)4.70307284
6Epileptic encephalopathy (HP:0200134)4.64799390
7Atonic seizures (HP:0010819)4.32903283
8Febrile seizures (HP:0002373)4.31152031
9Absence seizures (HP:0002121)4.20218476
10Supranuclear gaze palsy (HP:0000605)4.07658132
11Generalized tonic-clonic seizures (HP:0002069)4.00051760
12Dialeptic seizures (HP:0011146)3.77012959
13Action tremor (HP:0002345)3.74496849
14Annular pancreas (HP:0001734)3.62682541
15Abnormal eating behavior (HP:0100738)3.59070467
16Broad-based gait (HP:0002136)3.48005759
17Ankle clonus (HP:0011448)3.45764172
18Mutism (HP:0002300)3.42416974
19Depression (HP:0000716)3.33701351
20Tetraplegia (HP:0002445)3.32276947
21Dysmetria (HP:0001310)3.27885203
22Dysdiadochokinesis (HP:0002075)3.26883894
23Impaired vibration sensation in the lower limbs (HP:0002166)3.24857870
24Anxiety (HP:0000739)3.22925965
25Urinary bladder sphincter dysfunction (HP:0002839)3.18574148
26Postural instability (HP:0002172)3.16926805
27Cerebral hypomyelination (HP:0006808)3.16747378
28Gaze-evoked nystagmus (HP:0000640)3.10532765
29Poor eye contact (HP:0000817)3.09377376
30Papilledema (HP:0001085)3.08190746
31Truncal ataxia (HP:0002078)3.04046716
32Polyphagia (HP:0002591)3.02332093
33Neurofibrillary tangles (HP:0002185)2.98432846
34Cerebral inclusion bodies (HP:0100314)2.91676458
35Akinesia (HP:0002304)2.90531862
36Hemiparesis (HP:0001269)2.86126652
37Hemiplegia (HP:0002301)2.82960614
38Impaired social interactions (HP:0000735)2.80766128
39Abnormal social behavior (HP:0012433)2.80766128
40Amblyopia (HP:0000646)2.74890701
41Genetic anticipation (HP:0003743)2.70360081
42Apathy (HP:0000741)2.68358018
43Megalencephaly (HP:0001355)2.64597796
44Impaired smooth pursuit (HP:0007772)2.62657659
45Abnormality of the lower motor neuron (HP:0002366)2.62127058
46Progressive inability to walk (HP:0002505)2.61240426
47Hyperventilation (HP:0002883)2.60773770
48Intention tremor (HP:0002080)2.60695808
49Bradykinesia (HP:0002067)2.59798086
50Drooling (HP:0002307)2.59561362
51Excessive salivation (HP:0003781)2.59561362
52Spastic gait (HP:0002064)2.57899733
53Morphological abnormality of the pyramidal tract (HP:0002062)2.56527552
54Agitation (HP:0000713)2.56472619
55Urinary urgency (HP:0000012)2.55288559
56Diplopia (HP:0000651)2.50808024
57Abnormality of binocular vision (HP:0011514)2.50808024
58Abnormality of ocular smooth pursuit (HP:0000617)2.49797711
59Ventricular fibrillation (HP:0001663)2.48141504
60Scanning speech (HP:0002168)2.44620077
61Insomnia (HP:0100785)2.43599869
62Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.43076607
63Degeneration of the lateral corticospinal tracts (HP:0002314)2.43076607
64Epileptiform EEG discharges (HP:0011182)2.41492547
65Status epilepticus (HP:0002133)2.40930607
66Torticollis (HP:0000473)2.40727550
67Diminished motivation (HP:0000745)2.39808684
68Fetal akinesia sequence (HP:0001989)2.38263259
69EEG with generalized epileptiform discharges (HP:0011198)2.35111692
70Abnormality of the corticospinal tract (HP:0002492)2.34418716
71Limb dystonia (HP:0002451)2.29018162
72Psychosis (HP:0000709)2.27631823
73Pheochromocytoma (HP:0002666)2.26744472
74Hypsarrhythmia (HP:0002521)2.23723664
75Lower limb muscle weakness (HP:0007340)2.22248803
76Focal dystonia (HP:0004373)2.21323263
77Generalized myoclonic seizures (HP:0002123)2.18871328
78Absent speech (HP:0001344)2.15965535
79Split foot (HP:0001839)2.12434014
80Stereotypic behavior (HP:0000733)2.12047067
81CNS hypomyelination (HP:0003429)2.10527388
82Insidious onset (HP:0003587)2.10508985
83Termporal pattern (HP:0011008)2.10508985
84Choreoathetosis (HP:0001266)2.07012974
85Spastic tetraparesis (HP:0001285)2.06922421
86Impaired vibratory sensation (HP:0002495)2.04234951
87Abnormality of saccadic eye movements (HP:0000570)2.04011258
88Neuronal loss in central nervous system (HP:0002529)2.03443325
89Aplasia involving bones of the extremities (HP:0009825)2.02565301
90Aplasia involving bones of the upper limbs (HP:0009823)2.02565301
91Aplasia of the phalanges of the hand (HP:0009802)2.02565301
92Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.00661732
93Lower limb asymmetry (HP:0100559)1.99960327
94Delusions (HP:0000746)1.98697076
95Hypoventilation (HP:0002791)1.98434353
96Obstructive sleep apnea (HP:0002870)1.95954234
97Spinal canal stenosis (HP:0003416)1.95508952
98Craniofacial dystonia (HP:0012179)1.95169339
99Blue irides (HP:0000635)1.94720775
100Amyotrophic lateral sclerosis (HP:0007354)1.93694206
101Gait ataxia (HP:0002066)1.92515655
102Neuroendocrine neoplasm (HP:0100634)1.91389683
103Gait imbalance (HP:0002141)1.90785130
104Memory impairment (HP:0002354)1.88597391
105Postural tremor (HP:0002174)1.86995859
106Abnormal EKG (HP:0003115)1.86902017
107Rigidity (HP:0002063)1.86045487
108Specific learning disability (HP:0001328)1.84658008
109Clonus (HP:0002169)1.84441128
110Sleep apnea (HP:0010535)1.84372212
111Incomplete penetrance (HP:0003829)1.83498998
112Slow saccadic eye movements (HP:0000514)1.83364723
113Inability to walk (HP:0002540)1.82641623
114Rapidly progressive (HP:0003678)1.82164543
115Peripheral hypomyelination (HP:0007182)1.81143863
116Dysmetric saccades (HP:0000641)1.79733715
117Pointed chin (HP:0000307)1.79072646
118Abnormality of salivation (HP:0100755)1.78851805
119Lower limb amyotrophy (HP:0007210)1.78125533
120Bronchomalacia (HP:0002780)1.77760598
121Increased circulating renin level (HP:0000848)1.75643103
122Unsteady gait (HP:0002317)1.74911747
123Hand muscle atrophy (HP:0009130)1.73106425

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK194.84515041
2NTRK34.83661382
3EPHA43.96133433
4MAP3K93.76718626
5MARK13.05455797
6MAP3K43.00813425
7MINK12.59960249
8PAK62.51750425
9NTRK22.46479638
10MAP2K72.34178312
11MAP3K122.23635144
12MAP2K42.15942090
13KSR21.92647567
14DAPK21.83234021
15PNCK1.77247654
16PRKD31.66581410
17NTRK11.64563832
18TNIK1.64035407
19SIK21.61456591
20STK381.55746585
21KSR11.48850211
22CAMKK11.47507927
23RIPK41.46752523
24GRK51.45504937
25CDK51.45254309
26PLK21.38203209
27CASK1.37342087
28PHKG11.32323085
29PHKG21.32323085
30ARAF1.31501350
31MAPK131.30295790
32PRPF4B1.29647159
33LATS21.28655259
34FES1.24754779
35PRKCG1.23121109
36DAPK11.18482718
37MAP3K131.15741582
38UHMK11.13902592
39LMTK21.10533333
40TYRO31.04173724
41CAMK2A0.98302936
42MAP3K110.90833829
43CDK11A0.90568088
44RIPK10.90443249
45PAK30.85780071
46PRKCH0.85209936
47CAMK10.84852392
48CDK180.83722245
49CDK150.83432919
50CDK140.80462507
51SGK4940.79146562
52SGK2230.79146562
53STK110.79018407
54OXSR10.78580116
55ALK0.74465629
56TNK20.74383002
57MAP3K20.74189314
58CAMK40.72885822
59CAMK2B0.71130718
60DYRK1A0.70653276
61CSNK1G20.70350776
62MAPKAPK50.68024667
63CAMKK20.67788355
64RAF10.67087276
65TAOK10.66922540
66DAPK30.62902440
67SGK10.59003702
68PKN10.58854683
69NEK60.58342556
70FGFR20.58193098
71FGR0.58110771
72PINK10.57750061
73SGK20.56233826
74CDC42BPA0.54054433
75RET0.50220405
76MAP3K10.49723869
77WNK30.49190268
78RPS6KA30.48594154
79PTK2B0.48059168
80SGK30.47308185
81MARK20.46833960
82PDK10.46771654
83CAMK1G0.46728222
84MAPK100.46619756
85CAMK2D0.43992695
86CAMK2G0.43003078
87GRK70.42998463
88BRAF0.42935953
89PRKCZ0.42575284
90PDPK10.42442325
91WNK10.40013815
92NME10.39558548
93LIMK10.39114836
94PRKCE0.38767667
95CCNB10.37594380
96BRSK10.36699532
97TESK10.36544326
98FYN0.36348156
99BMPR20.35421767
100ROCK20.34943388
101FER0.32930602
102MAPK120.31575664
103MAP2K60.30402957
104PRKCA0.30357318
105MAP3K70.30013314
106MAPK80.29155511
107DYRK1B0.28681765
108PRKCB0.28648788
109DDR20.28219118
110MOS0.28103806
111CSNK1E0.28032708
112CSNK1G30.27616432
113JAK20.27427916
114MUSK0.26761612
115PRKG10.26339028
116DYRK20.24409259
117MAPK40.23446163
118SRC0.21499733
119CSNK1D0.20476048

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.23741345
2Synaptic vesicle cycle_Homo sapiens_hsa047213.42020015
3GABAergic synapse_Homo sapiens_hsa047273.03021271
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.76764545
5Circadian entrainment_Homo sapiens_hsa047132.69006620
6Olfactory transduction_Homo sapiens_hsa047402.66384743
7Glutamatergic synapse_Homo sapiens_hsa047242.65473833
8Long-term potentiation_Homo sapiens_hsa047202.59624762
9Morphine addiction_Homo sapiens_hsa050322.55306543
10Amphetamine addiction_Homo sapiens_hsa050312.46138694
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.33606169
12Salivary secretion_Homo sapiens_hsa049702.19315689
13Dopaminergic synapse_Homo sapiens_hsa047282.14339093
14Insulin secretion_Homo sapiens_hsa049112.02021730
15Taste transduction_Homo sapiens_hsa047421.97250584
16Gastric acid secretion_Homo sapiens_hsa049711.92428470
17Serotonergic synapse_Homo sapiens_hsa047261.79783588
18Cholinergic synapse_Homo sapiens_hsa047251.77084694
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.76900185
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74696697
21Long-term depression_Homo sapiens_hsa047301.73960628
22Cocaine addiction_Homo sapiens_hsa050301.70947864
23Renin secretion_Homo sapiens_hsa049241.63462404
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59675702
25Calcium signaling pathway_Homo sapiens_hsa040201.58769982
26Oxytocin signaling pathway_Homo sapiens_hsa049211.56620582
27Collecting duct acid secretion_Homo sapiens_hsa049661.53337898
28GnRH signaling pathway_Homo sapiens_hsa049121.49602133
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.35007459
30Vitamin B6 metabolism_Homo sapiens_hsa007501.34526613
31Gap junction_Homo sapiens_hsa045401.32231202
32cAMP signaling pathway_Homo sapiens_hsa040241.25277043
33Nitrogen metabolism_Homo sapiens_hsa009101.24460260
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24427285
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21650814
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17329890
37Axon guidance_Homo sapiens_hsa043601.15318229
38Type II diabetes mellitus_Homo sapiens_hsa049301.13804384
39Cardiac muscle contraction_Homo sapiens_hsa042601.13547091
40Estrogen signaling pathway_Homo sapiens_hsa049151.13468103
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10920855
42Melanogenesis_Homo sapiens_hsa049161.01867243
43Vibrio cholerae infection_Homo sapiens_hsa051100.97798728
44Phosphatidylinositol signaling system_Homo sapiens_hsa040700.96901737
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95961583
46Glioma_Homo sapiens_hsa052140.95909007
47ErbB signaling pathway_Homo sapiens_hsa040120.93350488
48Oocyte meiosis_Homo sapiens_hsa041140.89413313
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87292140
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.84809659
51Dorso-ventral axis formation_Homo sapiens_hsa043200.83148066
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.82224381
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81966681
54Pancreatic secretion_Homo sapiens_hsa049720.80464901
55Thyroid hormone synthesis_Homo sapiens_hsa049180.76461181
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76205003
57MAPK signaling pathway_Homo sapiens_hsa040100.72785827
58Dilated cardiomyopathy_Homo sapiens_hsa054140.70787291
59Phototransduction_Homo sapiens_hsa047440.68158929
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66819349
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66592742
62Type I diabetes mellitus_Homo sapiens_hsa049400.66473353
63Choline metabolism in cancer_Homo sapiens_hsa052310.66188314
64African trypanosomiasis_Homo sapiens_hsa051430.64807876
65Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59317736
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58882910
67Bile secretion_Homo sapiens_hsa049760.57917747
68Glucagon signaling pathway_Homo sapiens_hsa049220.55664914
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.54526735
70Ras signaling pathway_Homo sapiens_hsa040140.53997260
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52982722
72Prion diseases_Homo sapiens_hsa050200.52569661
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52001129
74Alcoholism_Homo sapiens_hsa050340.51782367
75Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51345166
76Mineral absorption_Homo sapiens_hsa049780.51319597
77VEGF signaling pathway_Homo sapiens_hsa043700.49449402
78Alzheimers disease_Homo sapiens_hsa050100.44989720
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.44104522
80Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43832846
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42617312
82Rap1 signaling pathway_Homo sapiens_hsa040150.42541161
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42256878
84Ovarian steroidogenesis_Homo sapiens_hsa049130.42186089
85Endocytosis_Homo sapiens_hsa041440.40394229
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39846176
87Wnt signaling pathway_Homo sapiens_hsa043100.39628764
88Inositol phosphate metabolism_Homo sapiens_hsa005620.37786749
89Insulin signaling pathway_Homo sapiens_hsa049100.35513255
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34230740
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.33296291
92Butanoate metabolism_Homo sapiens_hsa006500.32657621
93Fatty acid biosynthesis_Homo sapiens_hsa000610.31781841
94Arginine and proline metabolism_Homo sapiens_hsa003300.31552798
95Renal cell carcinoma_Homo sapiens_hsa052110.31308651
96Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29733583
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29244491
98Oxidative phosphorylation_Homo sapiens_hsa001900.27541263
99Regulation of autophagy_Homo sapiens_hsa041400.26540021
100AMPK signaling pathway_Homo sapiens_hsa041520.25904947
101Histidine metabolism_Homo sapiens_hsa003400.24415054
102mTOR signaling pathway_Homo sapiens_hsa041500.23887705
103SNARE interactions in vesicular transport_Homo sapiens_hsa041300.23739714
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.23384085
105Circadian rhythm_Homo sapiens_hsa047100.23020642
106Endometrial cancer_Homo sapiens_hsa052130.22603931
107Chemokine signaling pathway_Homo sapiens_hsa040620.21893273
108Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.19543877
109Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.18662228
1102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.17329386
111Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.16346101
112Arginine biosynthesis_Homo sapiens_hsa002200.15485522

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