NPTXR

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 protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.23622609
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.97955634
3locomotory exploration behavior (GO:0035641)6.85323757
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.24904017
5glutamate secretion (GO:0014047)6.17209125
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.95675738
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.94463161
8vocalization behavior (GO:0071625)5.83643478
9synaptic vesicle exocytosis (GO:0016079)5.81881523
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.63432598
11regulation of synaptic vesicle exocytosis (GO:2000300)5.53305811
12regulation of glutamate receptor signaling pathway (GO:1900449)5.34290159
13exploration behavior (GO:0035640)5.15657689
14regulation of neuronal synaptic plasticity (GO:0048168)5.00698716
15protein localization to synapse (GO:0035418)4.99550427
16regulation of synaptic vesicle transport (GO:1902803)4.93488011
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.80046678
18layer formation in cerebral cortex (GO:0021819)4.78558752
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.77521244
20dendritic spine morphogenesis (GO:0060997)4.68351145
21neurotransmitter secretion (GO:0007269)4.67979145
22cerebellar granule cell differentiation (GO:0021707)4.55308579
23proline transport (GO:0015824)4.49986059
24neuronal action potential propagation (GO:0019227)4.47720355
25synaptic transmission, glutamatergic (GO:0035249)4.36462220
26neuron cell-cell adhesion (GO:0007158)4.35620197
27amino acid import (GO:0043090)4.35438196
28regulation of synapse structural plasticity (GO:0051823)4.27470573
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.26327111
30neurotransmitter-gated ion channel clustering (GO:0072578)4.24439918
31positive regulation of membrane potential (GO:0045838)4.15351447
32long-term memory (GO:0007616)4.15007110
33cellular potassium ion homeostasis (GO:0030007)4.11772857
34glutamate receptor signaling pathway (GO:0007215)4.08648100
35sodium ion export (GO:0071436)4.06653660
36negative regulation of dendrite morphogenesis (GO:0050774)3.98954043
37regulation of excitatory postsynaptic membrane potential (GO:0060079)3.95503213
38gamma-aminobutyric acid transport (GO:0015812)3.91392724
39potassium ion homeostasis (GO:0055075)3.87563768
40regulation of synaptic plasticity (GO:0048167)3.87083671
41regulation of voltage-gated calcium channel activity (GO:1901385)3.85540980
42activation of protein kinase A activity (GO:0034199)3.80709561
43positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.79803235
44regulation of synapse maturation (GO:0090128)3.79263542
45neuron-neuron synaptic transmission (GO:0007270)3.78886043
46regulation of dendritic spine morphogenesis (GO:0061001)3.76509444
47positive regulation of synapse maturation (GO:0090129)3.75036883
48regulation of postsynaptic membrane potential (GO:0060078)3.72149308
49neurotransmitter transport (GO:0006836)3.68514989
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.66346167
51regulation of neurotransmitter secretion (GO:0046928)3.66058330
52potassium ion import (GO:0010107)3.65064985
53neuromuscular process controlling balance (GO:0050885)3.64623812
54membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.64008337
55synaptic vesicle endocytosis (GO:0048488)3.61424010
56regulation of ARF protein signal transduction (GO:0032012)3.56857837
57G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.53846363
58cell communication by electrical coupling (GO:0010644)3.52793426
59dendritic spine organization (GO:0097061)3.52124647
60dendrite morphogenesis (GO:0048813)3.48706636
61axon ensheathment in central nervous system (GO:0032291)3.46707465
62central nervous system myelination (GO:0022010)3.46707465
63L-amino acid import (GO:0043092)3.44531213
64neuron recognition (GO:0008038)3.42072051
65chemosensory behavior (GO:0007635)3.41040192
66regulation of neurotransmitter levels (GO:0001505)3.39512973
67long-term synaptic potentiation (GO:0060291)3.39485571
68postsynaptic membrane organization (GO:0001941)3.38280651
69innervation (GO:0060384)3.36455945
70positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34667475
71regulation of vesicle fusion (GO:0031338)3.33230264
72positive regulation of neurotransmitter secretion (GO:0001956)3.28525946
73regulation of neurotransmitter transport (GO:0051588)3.26894576
74positive regulation of synaptic transmission, GABAergic (GO:0032230)3.26143055
75acidic amino acid transport (GO:0015800)3.25966000
76positive regulation of dendritic spine development (GO:0060999)3.25604997
77axonal fasciculation (GO:0007413)3.25448322
78cerebellar Purkinje cell differentiation (GO:0021702)3.24468919
79neuromuscular synaptic transmission (GO:0007274)3.23478430
80glycine transport (GO:0015816)3.22882216
81regulation of dendritic spine development (GO:0060998)3.20643607
82cytoskeletal anchoring at plasma membrane (GO:0007016)3.18309974
83vesicle transport along microtubule (GO:0047496)3.15370206
84neuromuscular process controlling posture (GO:0050884)3.15149869
85auditory behavior (GO:0031223)3.14685231
86transmission of nerve impulse (GO:0019226)3.14254821
87regulation of synaptic transmission, glutamatergic (GO:0051966)3.14217834
88positive regulation of dendrite development (GO:1900006)3.12755581
89membrane depolarization (GO:0051899)3.12504770
90regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.12079384
91vesicle docking involved in exocytosis (GO:0006904)3.10771306
92regulation of synaptic transmission (GO:0050804)3.10654286
93gamma-aminobutyric acid signaling pathway (GO:0007214)3.09425494
94intraspecies interaction between organisms (GO:0051703)3.09164039
95social behavior (GO:0035176)3.09164039
96regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.08660097
97positive regulation of dendritic spine morphogenesis (GO:0061003)3.07947597
98negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.07163148
99response to auditory stimulus (GO:0010996)3.05342106
100cerebellar Purkinje cell layer development (GO:0021680)3.04284963
101positive regulation of synaptic transmission (GO:0050806)3.03723733
102serotonin metabolic process (GO:0042428)3.03333974
103synaptic vesicle transport (GO:0048489)3.01247209
104establishment of synaptic vesicle localization (GO:0097480)3.01247209
105positive regulation of neurotransmitter transport (GO:0051590)3.00992188
106neuronal ion channel clustering (GO:0045161)3.00598779
107detection of calcium ion (GO:0005513)3.00539363
108learning (GO:0007612)3.00509580
109neurotransmitter uptake (GO:0001504)3.00507382
110membrane depolarization during action potential (GO:0086010)3.00492018
111regulation of exocytosis (GO:0017157)2.97987646
112regulation of dendrite morphogenesis (GO:0048814)2.97853693
113positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.97089485
114neuromuscular process (GO:0050905)2.96449245
115negative regulation of synaptic transmission, GABAergic (GO:0032229)2.96367895
116regulation of calcium ion-dependent exocytosis (GO:0017158)2.95515210
117synaptic transmission (GO:0007268)2.93607714
118regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.93601065
119cellular sodium ion homeostasis (GO:0006883)2.91870549
120regulation of clathrin-mediated endocytosis (GO:2000369)2.88998390
121alanine transport (GO:0032328)2.87786189
122membrane hyperpolarization (GO:0060081)2.86517947

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.20968739
2* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09565779
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05870791
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02897854
5GBX2_23144817_ChIP-Seq_PC3_Human2.94054471
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.86631117
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.81035743
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80461373
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80461373
10DROSHA_22980978_ChIP-Seq_HELA_Human2.79986845
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.64837346
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59441326
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59232916
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.55855519
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53608178
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.39721096
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.37775775
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.36212930
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33886349
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.31682695
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.28242050
22EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.28150334
23* RNF2_27304074_Chip-Seq_ESCs_Mouse2.23852011
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.23300785
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.19129384
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.08918761
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.96198372
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95964341
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.74240657
30AR_21572438_ChIP-Seq_LNCaP_Human1.72939336
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67690027
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50081930
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46920190
34* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44992310
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44830931
36SMAD4_21799915_ChIP-Seq_A2780_Human1.44751779
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.41915397
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.41022296
39KDM2B_26808549_Chip-Seq_K562_Human1.41007353
40WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.33908416
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32883508
42EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.32173042
43ZNF274_21170338_ChIP-Seq_K562_Hela1.30833671
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.29858246
45NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27692181
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.27454721
47* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.26820769
48AR_19668381_ChIP-Seq_PC3_Human1.23767307
49GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21077835
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20052429
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.19786811
52SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19266757
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18821000
54RING1B_27294783_Chip-Seq_NPCs_Mouse1.18037858
55OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.17695452
56ESR2_21235772_ChIP-Seq_MCF-7_Human1.15781348
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14794039
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13444744
59AR_25329375_ChIP-Seq_VCAP_Human1.12797534
60TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.11631290
61ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08653725
62ZFP281_27345836_Chip-Seq_ESCs_Mouse1.07313260
63ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07312493
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.06989383
65STAT3_23295773_ChIP-Seq_U87_Human1.06941093
66* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.06535698
67RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05345810
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03802483
69RNF2_27304074_Chip-Seq_NSC_Mouse1.03279943
70CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02513982
71THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.01473704
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01361258
73GATA1_26923725_Chip-Seq_HPCs_Mouse1.00950045
74P300_19829295_ChIP-Seq_ESCs_Human0.99805870
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98120021
76TP53_20018659_ChIP-ChIP_R1E_Mouse0.97794006
77OCT4_19829295_ChIP-Seq_ESCs_Human0.97671142
78KDM2B_26808549_Chip-Seq_SUP-B15_Human0.97434190
79SMC4_20622854_ChIP-Seq_HELA_Human0.97035794
80TET1_21490601_ChIP-Seq_MESCs_Mouse0.96959423
81ARNT_22903824_ChIP-Seq_MCF-7_Human0.96865299
82SMAD3_21741376_ChIP-Seq_ESCs_Human0.95602573
83RXR_22108803_ChIP-Seq_LS180_Human0.94689836
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94553919
85SMAD4_21741376_ChIP-Seq_HESCs_Human0.94288817
86SMAD3_21741376_ChIP-Seq_HESCs_Human0.94004725
87TCF4_23295773_ChIP-Seq_U87_Human0.93416746
88AHR_22903824_ChIP-Seq_MCF-7_Human0.92489292
89TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92350155
90TAF15_26573619_Chip-Seq_HEK293_Human0.92250037
91CTCF_27219007_Chip-Seq_Bcells_Human0.92089117
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91690748
93SRY_22984422_ChIP-ChIP_TESTIS_Rat0.91588183
94DPY_21335234_ChIP-Seq_ESCs_Mouse0.90928311
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90680309
96TP53_16413492_ChIP-PET_HCT116_Human0.90490144
97CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90102733
98* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88609646
99PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87689806
100DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87410088
101ZFP57_27257070_Chip-Seq_ESCs_Mouse0.87127837
102CBX2_27304074_Chip-Seq_ESCs_Mouse0.86919748
103PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86763406
104SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86302328
105SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86284315
106KLF4_19829295_ChIP-Seq_ESCs_Human0.85867033
107PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85866889
108SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85428964
109PIAS1_25552417_ChIP-Seq_VCAP_Human0.83814557
110PRDM14_20953172_ChIP-Seq_ESCs_Human0.82439492
111SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82168966
112CREB1_26743006_Chip-Seq_LNCaP_Human0.81444577
113* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81387678
114SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.80931739
115CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80622024
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.80046045
117ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.79723288
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.79346344
119RUNX1_26923725_Chip-Seq_HPCs_Mouse0.78953876
120LXR_22292898_ChIP-Seq_THP-1_Human0.78886417
121EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.78796788
122TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76130439
123TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75608433
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.74426196
125TP53_23651856_ChIP-Seq_MEFs_Mouse0.73659362
126TRIM28_21343339_ChIP-Seq_HEK293_Human0.73004572
127MYC_19915707_ChIP-ChIP_AK7_Human0.71588346
128EGR1_19032775_ChIP-ChIP_M12_Human0.70978737
129P68_20966046_ChIP-Seq_HELA_Human0.70099300
130BMI1_23680149_ChIP-Seq_NPCS_Mouse0.68966335

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.99117739
2MP0003635_abnormal_synaptic_transmissio4.47820629
3MP0003880_abnormal_central_pattern4.44463085
4MP0004270_analgesia4.21823566
5MP0002063_abnormal_learning/memory/cond3.54635405
6MP0009745_abnormal_behavioral_response3.43503806
7MP0002064_seizures3.23185098
8MP0001968_abnormal_touch/_nociception3.00424528
9MP0009046_muscle_twitch2.88688419
10MP0005423_abnormal_somatic_nervous2.83698312
11MP0002572_abnormal_emotion/affect_behav2.80481413
12MP0002734_abnormal_mechanical_nocicepti2.76558229
13MP0009780_abnormal_chondrocyte_physiolo2.53012728
14MP0001486_abnormal_startle_reflex2.50359891
15MP0002272_abnormal_nervous_system2.49422186
16MP0004858_abnormal_nervous_system2.32713971
17MP0001501_abnormal_sleep_pattern2.18914715
18MP0002735_abnormal_chemical_nociception2.18512529
19MP0002736_abnormal_nociception_after2.18157380
20MP0001440_abnormal_grooming_behavior2.07181333
21MP0008569_lethality_at_weaning2.04493905
22MP0003329_amyloid_beta_deposits2.04125420
23MP0002733_abnormal_thermal_nociception2.01006978
24MP0002822_catalepsy2.00663918
25MP0004811_abnormal_neuron_physiology1.97827494
26MP0001970_abnormal_pain_threshold1.94885346
27MP0003879_abnormal_hair_cell1.79121461
28MP0002067_abnormal_sensory_capabilities1.78662059
29MP0000778_abnormal_nervous_system1.76320539
30MP0002909_abnormal_adrenal_gland1.73569636
31MP0002557_abnormal_social/conspecific_i1.70515603
32MP0003123_paternal_imprinting1.68944270
33* MP0002184_abnormal_innervation1.60835422
34MP0004885_abnormal_endolymph1.59900809
35MP0000955_abnormal_spinal_cord1.59326938
36MP0005386_behavior/neurological_phenoty1.54862562
37MP0004924_abnormal_behavior1.54862562
38MP0003633_abnormal_nervous_system1.50934408
39MP0002882_abnormal_neuron_morphology1.42527697
40MP0002066_abnormal_motor_capabilities/c1.42232974
41MP0003787_abnormal_imprinting1.40636097
42MP0005646_abnormal_pituitary_gland1.36837066
43MP0003075_altered_response_to1.30276846
44MP0005645_abnormal_hypothalamus_physiol1.26362167
45MP0003631_nervous_system_phenotype1.25011963
46MP0000569_abnormal_digit_pigmentation1.19309679
47MP0001984_abnormal_olfaction1.17666334
48MP0003283_abnormal_digestive_organ1.16695905
49MP0001502_abnormal_circadian_rhythm1.13918791
50MP0008961_abnormal_basal_metabolism1.13214818
51MP0002152_abnormal_brain_morphology1.12842902
52MP0006276_abnormal_autonomic_nervous1.09106688
53MP0001905_abnormal_dopamine_level0.99350723
54MP0001177_atelectasis0.97536569
55MP0002069_abnormal_eating/drinking_beha0.96184508
56MP0008872_abnormal_physiological_respon0.95845019
57MP0003122_maternal_imprinting0.95160751
58MP0004510_myositis0.95033107
59MP0000751_myopathy0.94932378
60MP0000604_amyloidosis0.93645312
61MP0004142_abnormal_muscle_tone0.91807387
62MP0003690_abnormal_glial_cell0.91227041
63MP0008874_decreased_physiological_sensi0.90383385
64MP0003172_abnormal_lysosome_physiology0.88871106
65MP0001346_abnormal_lacrimal_gland0.86742010
66MP0003632_abnormal_nervous_system0.86708992
67MP0010234_abnormal_vibrissa_follicle0.85982926
68MP0002229_neurodegeneration0.84855602
69MP0002638_abnormal_pupillary_reflex0.84500365
70MP0003634_abnormal_glial_cell0.84055621
71MP0004145_abnormal_muscle_electrophysio0.83072683
72MP0005535_abnormal_body_temperature0.82175854
73MP0000920_abnormal_myelination0.80721463
74MP0005167_abnormal_blood-brain_barrier0.79543575
75MP0010386_abnormal_urinary_bladder0.79466097
76MP0005623_abnormal_meninges_morphology0.77683267
77MP0000013_abnormal_adipose_tissue0.76527705
78MP0004085_abnormal_heartbeat0.73216446
79MP0001963_abnormal_hearing_physiology0.72235436
80MP0001529_abnormal_vocalization0.71677600
81MP0002090_abnormal_vision0.71138392
82MP0001986_abnormal_taste_sensitivity0.69552924
83MP0003121_genomic_imprinting0.67717900
84MP0004484_altered_response_of0.66897639
85MP0008877_abnormal_DNA_methylation0.66568939
86MP0004233_abnormal_muscle_weight0.66541087
87MP0005499_abnormal_olfactory_system0.64923591
88MP0005394_taste/olfaction_phenotype0.64923591
89MP0004742_abnormal_vestibular_system0.63795850
90MP0004130_abnormal_muscle_cell0.63075945
91MP0004147_increased_porphyrin_level0.61872774
92MP0005551_abnormal_eye_electrophysiolog0.60184368
93MP0002752_abnormal_somatic_nervous0.59512836
94MP0003183_abnormal_peptide_metabolism0.59452841
95MP0000631_abnormal_neuroendocrine_gland0.59003031
96MP0004215_abnormal_myocardial_fiber0.58671226
97MP0001664_abnormal_digestion0.58529732
98MP0003861_abnormal_nervous_system0.57231373
99MP0000579_abnormal_nail_morphology0.56824269
100MP0004043_abnormal_pH_regulation0.55623976
101MP0001299_abnormal_eye_distance/0.55189335
102MP0002089_abnormal_postnatal_growth/wei0.55056486
103MP0005187_abnormal_penis_morphology0.54849254
104MP0010769_abnormal_survival0.54173149
105MP0003137_abnormal_impulse_conducting0.53499404
106MP0000026_abnormal_inner_ear0.53010230
107MP0010768_mortality/aging0.52729554
108MP0005166_decreased_susceptibility_to0.52216397
109MP0010770_preweaning_lethality0.52034392
110MP0002082_postnatal_lethality0.52034392
111MP0001348_abnormal_lacrimal_gland0.51301282
112MP0001485_abnormal_pinna_reflex0.50958701
113MP0001943_abnormal_respiration0.50443832
114MP0003956_abnormal_body_size0.50407577
115MP0003938_abnormal_ear_development0.50383077
116MP0001188_hyperpigmentation0.46839451
117MP0002876_abnormal_thyroid_physiology0.45996582
118MP0005409_darkened_coat_color0.43275618

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.58617884
2Focal motor seizures (HP:0011153)7.26917342
3Focal seizures (HP:0007359)5.73154279
4Visual hallucinations (HP:0002367)5.71598861
5Epileptic encephalopathy (HP:0200134)4.73471480
6Progressive cerebellar ataxia (HP:0002073)4.55259763
7Action tremor (HP:0002345)4.30576696
8Atonic seizures (HP:0010819)4.29295493
9Papilledema (HP:0001085)4.09363672
10Febrile seizures (HP:0002373)4.04907185
11Absence seizures (HP:0002121)3.97527352
12Generalized tonic-clonic seizures (HP:0002069)3.84720972
13Supranuclear gaze palsy (HP:0000605)3.82039712
14Ankle clonus (HP:0011448)3.76587753
15Impaired vibration sensation in the lower limbs (HP:0002166)3.71404903
16Dialeptic seizures (HP:0011146)3.60725034
17Poor eye contact (HP:0000817)3.52129321
18Depression (HP:0000716)3.49719607
19Mutism (HP:0002300)3.47761547
20Urinary bladder sphincter dysfunction (HP:0002839)3.33317806
21Abnormality of the lower motor neuron (HP:0002366)3.32826144
22Postural instability (HP:0002172)3.32565373
23Broad-based gait (HP:0002136)3.31761577
24Gaze-evoked nystagmus (HP:0000640)3.25366046
25Dysmetria (HP:0001310)3.21906771
26Tetraplegia (HP:0002445)3.18637257
27Abnormal social behavior (HP:0012433)3.15730780
28Impaired social interactions (HP:0000735)3.15730780
29Dysdiadochokinesis (HP:0002075)3.13231239
30Akinesia (HP:0002304)3.12404347
31Cerebral hypomyelination (HP:0006808)3.03396622
32Genetic anticipation (HP:0003743)3.02622683
33Abnormal eating behavior (HP:0100738)2.94499600
34Amblyopia (HP:0000646)2.92504027
35Anxiety (HP:0000739)2.92304031
36Impaired smooth pursuit (HP:0007772)2.86620370
37Ventricular fibrillation (HP:0001663)2.84221504
38Truncal ataxia (HP:0002078)2.83951951
39Urinary urgency (HP:0000012)2.82270544
40Intention tremor (HP:0002080)2.78115951
41Hemiplegia (HP:0002301)2.77692345
42Megalencephaly (HP:0001355)2.74766204
43Torticollis (HP:0000473)2.73459595
44Focal dystonia (HP:0004373)2.69210477
45Spastic gait (HP:0002064)2.66268122
46Sleep apnea (HP:0010535)2.64175225
47Bradykinesia (HP:0002067)2.60707794
48Hyperventilation (HP:0002883)2.59706749
49Excessive salivation (HP:0003781)2.59480544
50Drooling (HP:0002307)2.59480544
51Neurofibrillary tangles (HP:0002185)2.58302301
52Cerebral inclusion bodies (HP:0100314)2.57159410
53Stereotypic behavior (HP:0000733)2.56261393
54Abnormality of binocular vision (HP:0011514)2.53783517
55Diplopia (HP:0000651)2.53783517
56Hemiparesis (HP:0001269)2.53109167
57Abnormality of ocular smooth pursuit (HP:0000617)2.52275331
58Bundle branch block (HP:0011710)2.50599678
59Impaired vibratory sensation (HP:0002495)2.48390175
60Obstructive sleep apnea (HP:0002870)2.47211601
61Insomnia (HP:0100785)2.41557853
62Annular pancreas (HP:0001734)2.41112655
63Epileptiform EEG discharges (HP:0011182)2.41052911
64Spastic tetraparesis (HP:0001285)2.38281181
65Peripheral hypomyelination (HP:0007182)2.34290793
66EEG with generalized epileptiform discharges (HP:0011198)2.34024775
67Pointed chin (HP:0000307)2.31986138
68Progressive inability to walk (HP:0002505)2.31597430
69Termporal pattern (HP:0011008)2.28281717
70Insidious onset (HP:0003587)2.28281717
71Scanning speech (HP:0002168)2.27358893
72Hypsarrhythmia (HP:0002521)2.27265277
73Dysmetric saccades (HP:0000641)2.24837870
74Craniofacial dystonia (HP:0012179)2.22161286
75Lower limb muscle weakness (HP:0007340)2.21707211
76Agitation (HP:0000713)2.21373853
77Fetal akinesia sequence (HP:0001989)2.20776846
78Abnormality of the corticospinal tract (HP:0002492)2.17173570
79Generalized myoclonic seizures (HP:0002123)2.16498497
80Status epilepticus (HP:0002133)2.15759771
81Amyotrophic lateral sclerosis (HP:0007354)2.12442589
82Absent speech (HP:0001344)2.11061887
83Morphological abnormality of the pyramidal tract (HP:0002062)2.08018200
84Clonus (HP:0002169)2.02691609
85Bronchomalacia (HP:0002780)2.00986500
86Apathy (HP:0000741)1.98478554
87Gait ataxia (HP:0002066)1.97115277
88Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.96569598
89Degeneration of the lateral corticospinal tracts (HP:0002314)1.96569598
90CNS hypomyelination (HP:0003429)1.96142336
91Intellectual disability, profound (HP:0002187)1.92858459
92Incomplete penetrance (HP:0003829)1.92514473
93Rapidly progressive (HP:0003678)1.92421191
94Choreoathetosis (HP:0001266)1.92227020
95Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.91564964
96Lower limb asymmetry (HP:0100559)1.90898475
97Ankyloglossia (HP:0010296)1.90043517
98Inappropriate behavior (HP:0000719)1.89673505
99Inability to walk (HP:0002540)1.88607933
100Split foot (HP:0001839)1.86603663
101Aplasia involving bones of the upper limbs (HP:0009823)1.86202884
102Aplasia of the phalanges of the hand (HP:0009802)1.86202884
103Aplasia involving bones of the extremities (HP:0009825)1.86202884
104Rigidity (HP:0002063)1.86125402
105Delusions (HP:0000746)1.86077417
106Pheochromocytoma (HP:0002666)1.85538829
107Abnormality of the periventricular white matter (HP:0002518)1.84080690
108Spinal canal stenosis (HP:0003416)1.83893329
109Polyphagia (HP:0002591)1.83624480
110Neuronal loss in central nervous system (HP:0002529)1.83215969
111Lower limb amyotrophy (HP:0007210)1.81284778
112Abnormality of saccadic eye movements (HP:0000570)1.79571997
113Increased circulating renin level (HP:0000848)1.78333687
114Hand muscle atrophy (HP:0009130)1.76913999
115Abnormality of salivation (HP:0100755)1.75015141
116Abnormal EKG (HP:0003115)1.73949069
117Diminished motivation (HP:0000745)1.72565693
118Limb dystonia (HP:0002451)1.72517911
119Anosmia (HP:0000458)1.71164554

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.43123555
2MAP3K94.29619696
3EPHA43.89089867
4MARK13.24463760
5DAPK23.04145631
6PRKD32.88748808
7MINK12.80767035
8PAK62.78141281
9MAP3K42.71755578
10KSR22.45220429
11CAMKK12.24497847
12MAP2K72.11904607
13NTRK22.08918687
14NTRK12.03791351
15DAPK11.78245446
16MAP2K41.74589558
17KSR11.67299880
18CDK51.62739608
19STK381.55095307
20MAP3K21.48785390
21MAP3K121.48253413
22PRPF4B1.45679903
23GRK51.38777102
24PLK21.38559047
25CDK191.37693316
26RIPK41.33618875
27TYRO31.32672782
28LATS21.29788108
29TAOK11.27327441
30PRKCG1.25852146
31SIK21.24953171
32ARAF1.22618605
33UHMK11.22542264
34CAMK11.18679002
35ALK1.13531624
36MAP3K131.12828546
37MAPK131.11147235
38TNIK1.08653696
39FES1.03024698
40PRKCH1.02283812
41PHKG11.00663767
42PHKG21.00663767
43STK110.99458968
44PAK30.96497382
45CDK180.95963628
46CDK150.95774597
47CAMKK20.95438791
48RET0.94177916
49CDK140.90147126
50RAF10.88657737
51CAMK2A0.86878014
52PDK10.85764872
53PNCK0.85478676
54CDK11A0.83757396
55CASK0.82197727
56LMTK20.80303585
57RIPK10.77957052
58PTK2B0.77054481
59SGK2230.73465541
60SGK4940.73465541
61MARK20.70621706
62PDPK10.70244691
63MAP3K10.69201730
64PKN10.67460062
65PINK10.67190772
66BRSK10.65428555
67SGK30.64967736
68MAP3K70.64736711
69LIMK10.63710459
70SGK10.63515000
71SCYL20.63496341
72CAMK2B0.62939323
73DYRK1A0.62648230
74NEK10.61791442
75CSNK1G20.59879762
76TESK10.57775021
77SGK20.56332050
78CAMK40.54715831
79OXSR10.53315309
80CAMK1G0.52020501
81DMPK0.51168044
82MAP3K110.51061894
83RPS6KA30.50845243
84CDC42BPA0.50573017
85DAPK30.50402667
86PRKCZ0.48795858
87BRAF0.47361629
88CAMK1D0.47056644
89FGFR20.47053553
90FYN0.45535392
91DDR20.42282219
92FER0.41745074
93TNK20.40940729
94ROCK20.40834166
95MAPK100.40664009
96CCNB10.40626979
97NEK60.40356144
98MAP2K10.40182084
99ERBB20.39433673
100RPS6KA20.33910949
101PRKCE0.33616159
102PRKCA0.33198115
103CAMK2G0.31721540
104BMPR20.31667485
105MAP2K60.31088736
106CAMK2D0.29906050
107ROCK10.29295274
108MAPK120.27895386
109PRKCB0.27875609
110PDGFRA0.27457858
111MAPK80.27330496
112WNK10.26816105
113MAP3K60.26536311
114PRKG20.25122663
115SRC0.23325751

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.33292450
2Synaptic vesicle cycle_Homo sapiens_hsa047213.30402951
3Olfactory transduction_Homo sapiens_hsa047402.72970549
4Long-term potentiation_Homo sapiens_hsa047202.72813570
5Circadian entrainment_Homo sapiens_hsa047132.69235631
6Glutamatergic synapse_Homo sapiens_hsa047242.57177175
7GABAergic synapse_Homo sapiens_hsa047272.51455139
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.48162486
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.43399207
10Amphetamine addiction_Homo sapiens_hsa050312.39303903
11Morphine addiction_Homo sapiens_hsa050322.26829900
12Salivary secretion_Homo sapiens_hsa049702.20517087
13Insulin secretion_Homo sapiens_hsa049112.19028468
14Dopaminergic synapse_Homo sapiens_hsa047282.04235026
15Gastric acid secretion_Homo sapiens_hsa049712.03046229
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.99110817
17Cholinergic synapse_Homo sapiens_hsa047251.94738979
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75138071
19Vitamin B6 metabolism_Homo sapiens_hsa007501.72916981
20Oxytocin signaling pathway_Homo sapiens_hsa049211.67947642
21Nitrogen metabolism_Homo sapiens_hsa009101.63849162
22Long-term depression_Homo sapiens_hsa047301.60378308
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.57143902
24GnRH signaling pathway_Homo sapiens_hsa049121.54762670
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50759524
26Calcium signaling pathway_Homo sapiens_hsa040201.50399357
27Renin secretion_Homo sapiens_hsa049241.46690724
28Taste transduction_Homo sapiens_hsa047421.45075803
29Type II diabetes mellitus_Homo sapiens_hsa049301.40852558
30Cocaine addiction_Homo sapiens_hsa050301.38816034
31Serotonergic synapse_Homo sapiens_hsa047261.38740943
32Glioma_Homo sapiens_hsa052141.38553910
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33858002
34Gap junction_Homo sapiens_hsa045401.30702560
35Estrogen signaling pathway_Homo sapiens_hsa049151.26394471
36cAMP signaling pathway_Homo sapiens_hsa040241.25250768
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.24778573
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17423511
39ErbB signaling pathway_Homo sapiens_hsa040121.14732373
40Melanogenesis_Homo sapiens_hsa049161.11716561
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11086845
42Axon guidance_Homo sapiens_hsa043601.09167122
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05348859
44Collecting duct acid secretion_Homo sapiens_hsa049661.03498283
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98324695
46Oocyte meiosis_Homo sapiens_hsa041140.94804071
47Dorso-ventral axis formation_Homo sapiens_hsa043200.94412424
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.92687672
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.90325416
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.88643968
51Pancreatic secretion_Homo sapiens_hsa049720.88459542
52Thyroid hormone synthesis_Homo sapiens_hsa049180.86786118
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80782315
54Neurotrophin signaling pathway_Homo sapiens_hsa047220.80420074
55VEGF signaling pathway_Homo sapiens_hsa043700.79958758
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79854303
57Choline metabolism in cancer_Homo sapiens_hsa052310.77327167
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.76858765
59Vibrio cholerae infection_Homo sapiens_hsa051100.72916415
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.72438791
61MAPK signaling pathway_Homo sapiens_hsa040100.71791293
62Dilated cardiomyopathy_Homo sapiens_hsa054140.70854361
63mTOR signaling pathway_Homo sapiens_hsa041500.70232855
64Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68804174
65Cardiac muscle contraction_Homo sapiens_hsa042600.68454090
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65131631
67Glucagon signaling pathway_Homo sapiens_hsa049220.64851800
68Endocytosis_Homo sapiens_hsa041440.63190316
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.61145060
70Ras signaling pathway_Homo sapiens_hsa040140.60529605
71Bile secretion_Homo sapiens_hsa049760.59566222
72Rap1 signaling pathway_Homo sapiens_hsa040150.59023545
73Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58791007
74Endometrial cancer_Homo sapiens_hsa052130.57488011
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56649304
76Non-small cell lung cancer_Homo sapiens_hsa052230.53816873
77Type I diabetes mellitus_Homo sapiens_hsa049400.52430664
78Prion diseases_Homo sapiens_hsa050200.50881885
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49531688
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48645156
81Inositol phosphate metabolism_Homo sapiens_hsa005620.47857301
82Insulin signaling pathway_Homo sapiens_hsa049100.47786798
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47135106
84Renal cell carcinoma_Homo sapiens_hsa052110.46175934
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45383601
86Wnt signaling pathway_Homo sapiens_hsa043100.44577851
87Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.44271266
88Arginine biosynthesis_Homo sapiens_hsa002200.43896377
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40861640
90Alcoholism_Homo sapiens_hsa050340.40401416
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39620519
92Chemokine signaling pathway_Homo sapiens_hsa040620.38236874
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38134517
94Phototransduction_Homo sapiens_hsa047440.37938669
95Arginine and proline metabolism_Homo sapiens_hsa003300.37250819
96Circadian rhythm_Homo sapiens_hsa047100.35943773
97African trypanosomiasis_Homo sapiens_hsa051430.35395044
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35043914
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34026792
100Ovarian steroidogenesis_Homo sapiens_hsa049130.32073097
101Prolactin signaling pathway_Homo sapiens_hsa049170.31764955
102Hippo signaling pathway_Homo sapiens_hsa043900.31504329
103AMPK signaling pathway_Homo sapiens_hsa041520.31251025
104Colorectal cancer_Homo sapiens_hsa052100.31141568
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.31106019
106SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30217845
107Tight junction_Homo sapiens_hsa045300.28486697
108Fatty acid biosynthesis_Homo sapiens_hsa000610.27905566
109Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.27834832
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.27501869
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.21583673
112Alzheimers disease_Homo sapiens_hsa050100.21187774
113HIF-1 signaling pathway_Homo sapiens_hsa040660.20864743

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