PTPRT

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 is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)6.58995804
2axonemal dynein complex assembly (GO:0070286)6.56375624
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.23138505
4synaptic vesicle maturation (GO:0016188)5.68820678
5locomotory exploration behavior (GO:0035641)5.61377798
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.48214341
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.47596219
8cilium movement (GO:0003341)5.46216855
9vocalization behavior (GO:0071625)5.39447402
10synaptic vesicle exocytosis (GO:0016079)5.32840802
11epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.10305745
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.04893934
13regulation of synaptic vesicle exocytosis (GO:2000300)5.03010255
14glutamate secretion (GO:0014047)4.94848815
15regulation of glutamate receptor signaling pathway (GO:1900449)4.84363027
16motile cilium assembly (GO:0044458)4.71846694
17neuron cell-cell adhesion (GO:0007158)4.71112789
18synaptic vesicle docking involved in exocytosis (GO:0016081)4.68524674
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.56248067
20protein localization to synapse (GO:0035418)4.55727831
21layer formation in cerebral cortex (GO:0021819)4.45982840
22epithelial cilium movement (GO:0003351)4.44843876
23neurotransmitter secretion (GO:0007269)4.44505262
24exploration behavior (GO:0035640)4.43960402
25regulation of synaptic vesicle transport (GO:1902803)4.41852841
26neuronal action potential propagation (GO:0019227)4.38761741
27regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.29509560
28regulation of synapse structural plasticity (GO:0051823)4.22390420
29regulation of neuronal synaptic plasticity (GO:0048168)4.19727881
30glutamate receptor signaling pathway (GO:0007215)4.17606523
31regulation of long-term neuronal synaptic plasticity (GO:0048169)4.15234275
32proline transport (GO:0015824)4.13998276
33neurotransmitter-gated ion channel clustering (GO:0072578)4.11130419
34synaptic transmission, glutamatergic (GO:0035249)4.11113897
35gamma-aminobutyric acid transport (GO:0015812)4.04892292
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.00844652
37cerebellar granule cell differentiation (GO:0021707)4.00186051
38axoneme assembly (GO:0035082)3.95460477
39dendritic spine morphogenesis (GO:0060997)3.94033541
40cellular potassium ion homeostasis (GO:0030007)3.93638822
41neuron-neuron synaptic transmission (GO:0007270)3.93011857
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.90821699
43sodium ion export (GO:0071436)3.88222812
44long-term memory (GO:0007616)3.84563862
45neurotransmitter transport (GO:0006836)3.71371293
46potassium ion homeostasis (GO:0055075)3.70853353
47positive regulation of membrane potential (GO:0045838)3.66906451
48positive regulation of synaptic transmission, GABAergic (GO:0032230)3.66218501
49regulation of excitatory postsynaptic membrane potential (GO:0060079)3.61379904
50positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.53921584
51activation of protein kinase A activity (GO:0034199)3.53711194
52amino acid import (GO:0043090)3.52263859
53neuron recognition (GO:0008038)3.49912156
54regulation of postsynaptic membrane potential (GO:0060078)3.48930232
55G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.47658665
56positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.45003026
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.44618190
58transmission of nerve impulse (GO:0019226)3.44140394
59cerebellar Purkinje cell differentiation (GO:0021702)3.44078926
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43434636
61synaptic vesicle endocytosis (GO:0048488)3.41548247
62regulation of neurotransmitter secretion (GO:0046928)3.41090263
63prepulse inhibition (GO:0060134)3.39602088
64dendrite morphogenesis (GO:0048813)3.38545910
65postsynaptic membrane organization (GO:0001941)3.37468351
66response to auditory stimulus (GO:0010996)3.35959018
67regulation of neurotransmitter levels (GO:0001505)3.35271292
68positive regulation of synapse maturation (GO:0090129)3.35179801
69startle response (GO:0001964)3.35015139
70potassium ion import (GO:0010107)3.34608065
71membrane depolarization during action potential (GO:0086010)3.34502251
72axon ensheathment in central nervous system (GO:0032291)3.33838387
73central nervous system myelination (GO:0022010)3.33838387
74regulation of dendritic spine morphogenesis (GO:0061001)3.33723535
75regulation of synaptic plasticity (GO:0048167)3.33069057
76regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.32587142
77neuromuscular process controlling balance (GO:0050885)3.31405927
78gamma-aminobutyric acid signaling pathway (GO:0007214)3.30415100
79detection of calcium ion (GO:0005513)3.29566788
80cell communication by electrical coupling (GO:0010644)3.27818654
81auditory behavior (GO:0031223)3.27174087
82long-term synaptic potentiation (GO:0060291)3.26446692
83membrane hyperpolarization (GO:0060081)3.25559890
84negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.21297749
85regulation of neurotransmitter transport (GO:0051588)3.20881258
86regulation of cilium movement (GO:0003352)3.20745168
87synapse assembly (GO:0007416)3.20683143
88regulation of vesicle fusion (GO:0031338)3.19071872
89glycine transport (GO:0015816)3.18974243
90negative regulation of synaptic transmission, GABAergic (GO:0032229)3.18792897
91regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.17180392
92regulation of voltage-gated calcium channel activity (GO:1901385)3.16291334
93neuromuscular process controlling posture (GO:0050884)3.16259501
94axonal fasciculation (GO:0007413)3.15705117
95presynaptic membrane assembly (GO:0097105)3.14321599
96membrane depolarization (GO:0051899)3.11814967
97neuronal ion channel clustering (GO:0045161)3.10809556
98microtubule bundle formation (GO:0001578)3.10355682
99cellular sodium ion homeostasis (GO:0006883)3.09823770
100left/right pattern formation (GO:0060972)3.06987239
101innervation (GO:0060384)3.05066811
102negative regulation of cytosolic calcium ion concentration (GO:0051481)3.02271860
103positive regulation of neurotransmitter transport (GO:0051590)3.01764481
104ventricular system development (GO:0021591)3.01250767
105response to histamine (GO:0034776)2.97290715
106regulation of ARF protein signal transduction (GO:0032012)2.97215247
107positive regulation of neurotransmitter secretion (GO:0001956)2.97030761
108L-amino acid import (GO:0043092)2.96435961
109regulation of synapse maturation (GO:0090128)2.96001960
110protein localization to cilium (GO:0061512)2.95699283
111positive regulation of synaptic transmission (GO:0050806)2.94310879
112synaptic transmission (GO:0007268)2.94293574
113intraspecies interaction between organisms (GO:0051703)2.94094961
114social behavior (GO:0035176)2.94094961
115presynaptic membrane organization (GO:0097090)2.93045501
116learning (GO:0007612)2.92927785
117negative regulation of dendrite morphogenesis (GO:0050774)2.92608694
118positive regulation of potassium ion transmembrane transport (GO:1901381)2.92481348
119positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.91999273
120regulation of synaptic transmission (GO:0050804)2.91542210
121G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.91286922
122positive regulation of dendritic spine development (GO:0060999)2.90678814
123retinal cone cell development (GO:0046549)2.90667622
124vesicle transport along microtubule (GO:0047496)2.90374665
125mechanosensory behavior (GO:0007638)2.89192445
126behavioral fear response (GO:0001662)2.88957471
127behavioral defense response (GO:0002209)2.88957471
128positive regulation of dendritic spine morphogenesis (GO:0061003)2.88275067
129regulation of calcium ion-dependent exocytosis (GO:0017158)2.87742059
130serotonin metabolic process (GO:0042428)2.76011424

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.66985027
2GBX2_23144817_ChIP-Seq_PC3_Human3.57126250
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08266915
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.00208649
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.93237424
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.71261436
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61300386
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61300386
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59024162
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53680284
11DROSHA_22980978_ChIP-Seq_HELA_Human2.52129886
12* EZH2_27304074_Chip-Seq_ESCs_Mouse2.49527099
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48392225
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47436538
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46996322
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42471753
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.34696529
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21624855
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.20376816
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19787369
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.19593162
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19396152
23* EED_16625203_ChIP-ChIP_MESCs_Mouse2.18838190
24* REST_18959480_ChIP-ChIP_MESCs_Mouse2.13131862
25AR_21572438_ChIP-Seq_LNCaP_Human1.95638975
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.95144656
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.89511774
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.89381256
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86965815
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76572904
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.70905416
32* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.67685100
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.65697930
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65603008
35TAF15_26573619_Chip-Seq_HEK293_Human1.62272178
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.51356370
37* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49633003
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.43107794
39P300_19829295_ChIP-Seq_ESCs_Human1.39630930
40ZNF274_21170338_ChIP-Seq_K562_Hela1.36802147
41* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35475690
42* SOX2_21211035_ChIP-Seq_LN229_Gbm1.35320759
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.35177650
44BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34143098
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33852172
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32321024
47* STAT3_23295773_ChIP-Seq_U87_Human1.30803374
48* SMAD3_21741376_ChIP-Seq_EPCs_Human1.30636099
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.29563822
50* RING1B_27294783_Chip-Seq_ESCs_Mouse1.29353010
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29330910
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.28754133
53IGF1R_20145208_ChIP-Seq_DFB_Human1.25847134
54* AR_25329375_ChIP-Seq_VCAP_Human1.25534353
55* AR_19668381_ChIP-Seq_PC3_Human1.23992759
56* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23854117
57CTNNB1_20460455_ChIP-Seq_HCT116_Human1.23104721
58* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22919774
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22835924
60* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22653963
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22579280
62TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21875481
63ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18754885
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15703518
65* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13857948
66YAP1_20516196_ChIP-Seq_MESCs_Mouse1.13840225
67* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13724643
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13608114
69* TCF4_23295773_ChIP-Seq_U87_Human1.12441632
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12024219
71TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11072107
72RNF2_27304074_Chip-Seq_NSC_Mouse1.11035542
73* RING1B_27294783_Chip-Seq_NPCs_Mouse1.10086433
74ARNT_22903824_ChIP-Seq_MCF-7_Human1.09642988
75MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.08241068
76* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06501438
77POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06273484
78AHR_22903824_ChIP-Seq_MCF-7_Human1.05684976
79DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04288916
80TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04025262
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.02170108
82RUNX2_22187159_ChIP-Seq_PCA_Human1.00852886
83FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.00503505
84PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00372256
85* SMAD3_21741376_ChIP-Seq_ESCs_Human0.99226753
86BCAT_22108803_ChIP-Seq_LS180_Human0.98058174
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97741344
88* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96693659
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96601974
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95383190
91* SMAD4_21741376_ChIP-Seq_HESCs_Human0.94877441
92FUS_26573619_Chip-Seq_HEK293_Human0.94839247
93KDM2B_26808549_Chip-Seq_K562_Human0.94523697
94TP53_16413492_ChIP-PET_HCT116_Human0.93236696
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.93109923
96* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93075772
97UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92500352
98* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92298564
99CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91960733
100VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91560827
101* NANOG_18555785_Chip-Seq_ESCs_Mouse0.91262252
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90637911
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90637911
104* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90112742
105* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.89527725
106STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.89297767
107EP300_21415370_ChIP-Seq_HL-1_Mouse0.89265514
108* SMAD3_21741376_ChIP-Seq_HESCs_Human0.89035004
109ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88518248
110* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.88224068
111RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88213375
112ER_23166858_ChIP-Seq_MCF-7_Human0.88150047
113JUN_21703547_ChIP-Seq_K562_Human0.86012156
114TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.85528090

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.01809899
2MP0003880_abnormal_central_pattern4.13641582
3MP0003635_abnormal_synaptic_transmissio4.05394194
4MP0004270_analgesia3.65841417
5MP0009745_abnormal_behavioral_response3.30685828
6MP0009046_muscle_twitch3.19028617
7MP0001968_abnormal_touch/_nociception3.17700173
8MP0002063_abnormal_learning/memory/cond3.17028489
9MP0002064_seizures3.12332532
10MP0005423_abnormal_somatic_nervous2.91151600
11MP0002734_abnormal_mechanical_nocicepti2.79793557
12MP0002572_abnormal_emotion/affect_behav2.77909822
13MP0002272_abnormal_nervous_system2.64955334
14MP0001486_abnormal_startle_reflex2.63955834
15MP0002822_catalepsy2.59052886
16MP0002736_abnormal_nociception_after2.38507007
17MP0001501_abnormal_sleep_pattern2.37459704
18MP0002735_abnormal_chemical_nociception2.33778033
19MP0002733_abnormal_thermal_nociception2.19342776
20MP0001440_abnormal_grooming_behavior2.10590464
21MP0009780_abnormal_chondrocyte_physiolo2.09500782
22MP0001970_abnormal_pain_threshold2.05024903
23MP0002067_abnormal_sensory_capabilities2.02899395
24MP0008569_lethality_at_weaning1.93171361
25MP0002909_abnormal_adrenal_gland1.92954454
26MP0004858_abnormal_nervous_system1.91574606
27MP0002184_abnormal_innervation1.89118680
28MP0002557_abnormal_social/conspecific_i1.83233612
29MP0003329_amyloid_beta_deposits1.75329268
30MP0005646_abnormal_pituitary_gland1.73465224
31MP0006276_abnormal_autonomic_nervous1.72017705
32MP0005645_abnormal_hypothalamus_physiol1.71993368
33MP0005386_behavior/neurological_phenoty1.71170620
34MP0004924_abnormal_behavior1.71170620
35MP0000778_abnormal_nervous_system1.71088853
36MP0004811_abnormal_neuron_physiology1.70830890
37MP0002653_abnormal_ependyma_morphology1.68625097
38MP0003879_abnormal_hair_cell1.66503076
39MP0000955_abnormal_spinal_cord1.59785470
40MP0001984_abnormal_olfaction1.57970806
41MP0003787_abnormal_imprinting1.53692336
42MP0004885_abnormal_endolymph1.51231156
43MP0002882_abnormal_neuron_morphology1.42046941
44MP0003633_abnormal_nervous_system1.40291084
45MP0001502_abnormal_circadian_rhythm1.39717753
46MP0002066_abnormal_motor_capabilities/c1.37359119
47MP0004142_abnormal_muscle_tone1.32888610
48MP0003122_maternal_imprinting1.25865656
49MP0001529_abnormal_vocalization1.21230585
50MP0005551_abnormal_eye_electrophysiolog1.18787373
51MP0008875_abnormal_xenobiotic_pharmacok1.18527082
52MP0003283_abnormal_digestive_organ1.17113850
53MP0001188_hyperpigmentation1.16921997
54MP0003631_nervous_system_phenotype1.15479770
55MP0000569_abnormal_digit_pigmentation1.11169162
56MP0001905_abnormal_dopamine_level1.07758302
57MP0000566_synostosis1.07045812
58MP0010386_abnormal_urinary_bladder1.07006375
59MP0002152_abnormal_brain_morphology1.06554781
60MP0004133_heterotaxia1.01768047
61MP0004145_abnormal_muscle_electrophysio1.01195248
62MP0004742_abnormal_vestibular_system1.00273805
63MP0003690_abnormal_glial_cell1.00246496
64MP0002229_neurodegeneration0.99279733
65MP0008961_abnormal_basal_metabolism0.99127439
66MP0000013_abnormal_adipose_tissue0.97636212
67MP0002090_abnormal_vision0.95573436
68MP0008872_abnormal_physiological_respon0.93198230
69MP0003634_abnormal_glial_cell0.92211021
70MP0004043_abnormal_pH_regulation0.91872957
71MP0002069_abnormal_eating/drinking_beha0.91081580
72MP0000631_abnormal_neuroendocrine_gland0.90686018
73MP0005535_abnormal_body_temperature0.88448906
74MP0002638_abnormal_pupillary_reflex0.87551525
75MP0006072_abnormal_retinal_apoptosis0.86749614
76MP0005499_abnormal_olfactory_system0.85705965
77MP0005394_taste/olfaction_phenotype0.85705965
78MP0004085_abnormal_heartbeat0.84715568
79MP0001963_abnormal_hearing_physiology0.84150679
80MP0001177_atelectasis0.83271830
81MP0001765_abnormal_ion_homeostasis0.81353306
82MP0003632_abnormal_nervous_system0.81225201
83MP0004233_abnormal_muscle_weight0.78935737
84MP0008874_decreased_physiological_sensi0.78553957
85MP0002752_abnormal_somatic_nervous0.78346895
86MP0003075_altered_response_to0.77099293
87MP0000920_abnormal_myelination0.76285805
88MP0001485_abnormal_pinna_reflex0.75624852
89MP0000751_myopathy0.75316402
90MP0001986_abnormal_taste_sensitivity0.74848467
91MP0003172_abnormal_lysosome_physiology0.74260293
92MP0000026_abnormal_inner_ear0.73727632
93MP0005167_abnormal_blood-brain_barrier0.73722434
94MP0001346_abnormal_lacrimal_gland0.70942217
95MP0000604_amyloidosis0.70476046
96MP0008877_abnormal_DNA_methylation0.67308450
97MP0004147_increased_porphyrin_level0.67201605
98MP0004215_abnormal_myocardial_fiber0.66851077
99MP0001299_abnormal_eye_distance/0.66747248
100MP0001944_abnormal_pancreas_morphology0.66610797
101MP0002837_dystrophic_cardiac_calcinosis0.63189147
102MP0005409_darkened_coat_color0.63003581
103MP0001664_abnormal_digestion0.62246258
104MP0003123_paternal_imprinting0.60760684
105MP0004019_abnormal_vitamin_homeostasis0.60579491
106MP0003045_fibrosis0.59906886
107MP0002876_abnormal_thyroid_physiology0.58743253
108MP0005253_abnormal_eye_physiology0.57798051
109MP0003137_abnormal_impulse_conducting0.57306879
110MP0005248_abnormal_Harderian_gland0.56629835
111MP0010770_preweaning_lethality0.56410037
112MP0002082_postnatal_lethality0.56410037
113MP0010769_abnormal_survival0.55947547
114MP0001943_abnormal_respiration0.55706114
115MP0005623_abnormal_meninges_morphology0.53575125
116MP0004484_altered_response_of0.51690518
117MP0003861_abnormal_nervous_system0.51490060

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.37044230
2Absent/shortened dynein arms (HP:0200106)7.31410360
3Dynein arm defect of respiratory motile cilia (HP:0012255)7.31410360
4Focal motor seizures (HP:0011153)7.18254376
5Abnormal respiratory motile cilium morphology (HP:0005938)6.98480374
6Abnormal respiratory epithelium morphology (HP:0012253)6.98480374
7Abnormal ciliary motility (HP:0012262)6.96530003
8Abnormal respiratory motile cilium physiology (HP:0012261)6.73867675
9Myokymia (HP:0002411)6.37458627
10Rhinitis (HP:0012384)6.10945287
11Focal seizures (HP:0007359)5.71715068
12Visual hallucinations (HP:0002367)5.19639890
13Epileptic encephalopathy (HP:0200134)4.82513850
14Febrile seizures (HP:0002373)4.50878834
15Progressive cerebellar ataxia (HP:0002073)4.38686104
16Chronic bronchitis (HP:0004469)4.36259496
17Atonic seizures (HP:0010819)4.29571675
18Action tremor (HP:0002345)4.24632149
19Bronchiectasis (HP:0002110)4.21628452
20Absence seizures (HP:0002121)4.17435396
21Generalized tonic-clonic seizures (HP:0002069)3.92354674
22Dialeptic seizures (HP:0011146)3.82450291
23Ankle clonus (HP:0011448)3.64085681
24Nasal polyposis (HP:0100582)3.56593618
25Supranuclear gaze palsy (HP:0000605)3.53687997
26Papilledema (HP:0001085)3.40171327
27Broad-based gait (HP:0002136)3.39416060
28Gaze-evoked nystagmus (HP:0000640)3.30329261
29Dysdiadochokinesis (HP:0002075)3.26128321
30Depression (HP:0000716)3.21138060
31Poor eye contact (HP:0000817)3.18421735
32Urinary bladder sphincter dysfunction (HP:0002839)3.13650372
33Mutism (HP:0002300)3.10746227
34Hemiparesis (HP:0001269)3.10178903
35Impaired vibration sensation in the lower limbs (HP:0002166)3.04843226
36Truncal ataxia (HP:0002078)3.01837866
37Postural instability (HP:0002172)2.98260160
38Genetic anticipation (HP:0003743)2.96751424
39Abnormal eating behavior (HP:0100738)2.93322916
40Dysmetria (HP:0001310)2.92528535
41Abnormal social behavior (HP:0012433)2.91981894
42Impaired social interactions (HP:0000735)2.91981894
43Anxiety (HP:0000739)2.90605271
44Amblyopia (HP:0000646)2.83068552
45Abnormality of the nasal mucosa (HP:0000433)2.81857878
46Hyperventilation (HP:0002883)2.78068571
47Drooling (HP:0002307)2.76823116
48Excessive salivation (HP:0003781)2.76823116
49Progressive inability to walk (HP:0002505)2.71864316
50Impaired smooth pursuit (HP:0007772)2.67968620
51Spastic gait (HP:0002064)2.61899868
52Epileptiform EEG discharges (HP:0011182)2.58292869
53Infertility (HP:0000789)2.56595311
54EEG with generalized epileptiform discharges (HP:0011198)2.55833533
55Diplopia (HP:0000651)2.55815370
56Abnormality of binocular vision (HP:0011514)2.55815370
57Termporal pattern (HP:0011008)2.53463948
58Insidious onset (HP:0003587)2.53463948
59Agitation (HP:0000713)2.51548464
60Urinary urgency (HP:0000012)2.49863021
61Intention tremor (HP:0002080)2.47614615
62Megalencephaly (HP:0001355)2.47508352
63Neurofibrillary tangles (HP:0002185)2.47483905
64Hemiplegia (HP:0002301)2.45196215
65Hypsarrhythmia (HP:0002521)2.42353519
66Torticollis (HP:0000473)2.42313044
67Bradykinesia (HP:0002067)2.38775634
68Absent speech (HP:0001344)2.37932273
69Scanning speech (HP:0002168)2.37534710
70Abnormality of ocular smooth pursuit (HP:0000617)2.34065583
71Pheochromocytoma (HP:0002666)2.30445137
72Status epilepticus (HP:0002133)2.30233262
73Stereotypic behavior (HP:0000733)2.28732794
74Cerebral inclusion bodies (HP:0100314)2.27881812
75Polyphagia (HP:0002591)2.27542237
76Nephronophthisis (HP:0000090)2.26021404
77Tubulointerstitial nephritis (HP:0001970)2.25229143
78Fetal akinesia sequence (HP:0001989)2.24068308
79Limb dystonia (HP:0002451)2.22932577
80Sleep apnea (HP:0010535)2.21776159
81Akinesia (HP:0002304)2.21699561
82Ventricular fibrillation (HP:0001663)2.21157286
83Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.20539944
84Chronic sinusitis (HP:0011109)2.19334583
85Lower limb muscle weakness (HP:0007340)2.19189589
86Dysmetric saccades (HP:0000641)2.18674788
87Abnormality of the corticospinal tract (HP:0002492)2.18516208
88Pancreatic fibrosis (HP:0100732)2.18139453
89Recurrent sinusitis (HP:0011108)2.17288523
90Focal dystonia (HP:0004373)2.16229022
91Bronchitis (HP:0012387)2.15605833
92True hermaphroditism (HP:0010459)2.15492138
93Impaired vibratory sensation (HP:0002495)2.13282844
94Abnormality of the lower motor neuron (HP:0002366)2.12133979
95Male infertility (HP:0003251)2.12065294
96Gait imbalance (HP:0002141)2.09307730
97Blue irides (HP:0000635)2.06897489
98Recurrent otitis media (HP:0000403)2.03613323
99Clonus (HP:0002169)2.02483557
100Inability to walk (HP:0002540)2.01559042
101Occipital encephalocele (HP:0002085)2.01176383
102Generalized myoclonic seizures (HP:0002123)2.00278692
103Abnormality of midbrain morphology (HP:0002418)1.99884657
104Molar tooth sign on MRI (HP:0002419)1.99884657
105Aplasia involving bones of the extremities (HP:0009825)1.98614470
106Aplasia involving bones of the upper limbs (HP:0009823)1.98614470
107Aplasia of the phalanges of the hand (HP:0009802)1.98614470
108Cystic liver disease (HP:0006706)1.95001706
109Neuroendocrine neoplasm (HP:0100634)1.92880518
110Abnormality of salivation (HP:0100755)1.90949847
111Craniofacial dystonia (HP:0012179)1.89398978
112Chronic hepatic failure (HP:0100626)1.88390201
113Neuronal loss in central nervous system (HP:0002529)1.87724463
114Gait ataxia (HP:0002066)1.86851406
115Postural tremor (HP:0002174)1.86610893
116Hyperactive renin-angiotensin system (HP:0000841)1.85385284
117Inappropriate behavior (HP:0000719)1.84081276
118Abnormal EKG (HP:0003115)1.81892012
119Prolonged QT interval (HP:0001657)1.81113450
120Failure to thrive in infancy (HP:0001531)1.79080823
121Obstructive sleep apnea (HP:0002870)1.78993030
122Abnormality of saccadic eye movements (HP:0000570)1.77910091
123Medial flaring of the eyebrow (HP:0010747)1.77780506
124Amyotrophic lateral sclerosis (HP:0007354)1.76841692
125Abnormality of the renal medulla (HP:0100957)1.76532255
126Pointed chin (HP:0000307)1.76029858
127Psychosis (HP:0000709)1.75869775
128Insomnia (HP:0100785)1.74481306
129Tetraplegia (HP:0002445)1.73853893
130Specific learning disability (HP:0001328)1.73492474
131Protruding tongue (HP:0010808)1.73230732
132Resting tremor (HP:0002322)1.73036056
133Incomplete penetrance (HP:0003829)1.72645316
134Ankyloglossia (HP:0010296)1.72519654
135Pancreatic cysts (HP:0001737)1.72320256
136Hyperaldosteronism (HP:0000859)1.71203806
137Syncope (HP:0001279)1.70566180
138Decreased circulating renin level (HP:0003351)1.64989046

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.51814434
2MAP3K94.05629241
3EPHA43.63543098
4MARK13.50326564
5MAP3K43.15486675
6MAPK153.08101273
7MAP2K72.60441493
8MINK12.57934101
9DAPK22.49274953
10NTRK22.43092380
11PAK62.23406913
12NTRK12.10422527
13PRKD32.07549115
14KSR21.94845610
15CASK1.93425674
16MAP2K41.89792411
17CAMKK11.85326265
18RIPK41.80163558
19TNIK1.75149234
20FRK1.65129025
21MAP3K121.61640279
22CDK51.54537507
23MAPK131.49171431
24MAP3K21.49037457
25KSR11.34622082
26PNCK1.34585691
27SIK21.33263501
28STK381.32371366
29DAPK11.29269851
30MAP3K131.25487463
31GRK51.25390314
32PHKG11.25112760
33PHKG21.25112760
34UHMK11.19646839
35FES1.18787687
36CAMKK21.16433320
37PRKCG1.13463098
38ARAF1.13291925
39PLK21.08112377
40LATS21.07427971
41TYRO31.07318578
42TAOK11.03960500
43PRPF4B1.03768304
44SGK4941.02024203
45SGK2231.02024203
46CDK191.00426626
47CAMK10.98392365
48CAMK2A0.95495005
49FGFR20.91146341
50RET0.90012082
51SGK20.89991271
52STK110.87235764
53LMTK20.85924923
54PRKCH0.81664016
55PAK30.80433003
56CSNK1G20.80357596
57WNK30.74243915
58CDK150.73496099
59MARK20.73493241
60CDK180.73474599
61SGK10.72992492
62CDK140.72782460
63SGK30.72722236
64CAMK1G0.72323883
65BMPR20.71220734
66ALK0.71217969
67PINK10.66964675
68CDC42BPA0.66127350
69RAF10.65935955
70PKN10.64240932
71INSRR0.64106231
72CAMK2B0.64007927
73DYRK1A0.63114787
74CDK11A0.62906716
75PRKCE0.61911638
76OXSR10.60756123
77MAP3K10.60740796
78MAPK120.58818090
79SCYL20.57955525
80NEK60.56524687
81MST40.55245807
82RPS6KA30.54525154
83PRKCZ0.53828599
84WNK10.53334946
85PDK10.49405278
86ROCK20.47791179
87CAMK40.47252211
88ERBB20.46776769
89MAPK100.46289731
90PDPK10.46004161
91ROCK10.45963581
92MAP3K70.44012082
93MAP2K60.43315500
94PRKACA0.43061182
95MAP3K60.42835518
96STK390.42540034
97PTK2B0.42368135
98CAMK2D0.42190651
99RPS6KA20.41052753
100AKT30.39696134
101TNK20.39663212
102CAMK2G0.37907434
103EPHA30.37808264
104* FYN0.37644033
105FER0.37478480
106RIPK10.37131160
107CAMK1D0.36781878
108MAP2K10.34877226
109PRKCB0.34484597
110MUSK0.34458022
111DYRK20.33235474
112PRKG10.32025763
113FGR0.30860252
114PRKCA0.30689372
115CCNB10.30661961

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.56532606
2Synaptic vesicle cycle_Homo sapiens_hsa047213.20908599
3GABAergic synapse_Homo sapiens_hsa047272.79736763
4Circadian entrainment_Homo sapiens_hsa047132.65673676
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.64470296
6Olfactory transduction_Homo sapiens_hsa047402.64293885
7Glutamatergic synapse_Homo sapiens_hsa047242.59960518
8Morphine addiction_Homo sapiens_hsa050322.52907964
9Long-term potentiation_Homo sapiens_hsa047202.41602416
10Amphetamine addiction_Homo sapiens_hsa050312.29787529
11Insulin secretion_Homo sapiens_hsa049112.25234395
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23553900
13Salivary secretion_Homo sapiens_hsa049702.16764327
14Dopaminergic synapse_Homo sapiens_hsa047282.10348569
15Cholinergic synapse_Homo sapiens_hsa047251.95942379
16Taste transduction_Homo sapiens_hsa047421.83898378
17Gastric acid secretion_Homo sapiens_hsa049711.83419981
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.81354371
19Serotonergic synapse_Homo sapiens_hsa047261.79751096
20Cocaine addiction_Homo sapiens_hsa050301.72971054
21Long-term depression_Homo sapiens_hsa047301.69102817
22Renin secretion_Homo sapiens_hsa049241.67605667
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64467950
24Oxytocin signaling pathway_Homo sapiens_hsa049211.59236325
25Calcium signaling pathway_Homo sapiens_hsa040201.53952077
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.52358378
27Type II diabetes mellitus_Homo sapiens_hsa049301.44560003
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39415799
29GnRH signaling pathway_Homo sapiens_hsa049121.39199818
30Histidine metabolism_Homo sapiens_hsa003401.37302107
31Gap junction_Homo sapiens_hsa045401.36857289
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28135706
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.27772675
34Collecting duct acid secretion_Homo sapiens_hsa049661.26303477
35cAMP signaling pathway_Homo sapiens_hsa040241.25443104
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.24467021
37Estrogen signaling pathway_Homo sapiens_hsa049151.15385447
38beta-Alanine metabolism_Homo sapiens_hsa004101.13946705
39Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.10196414
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09508286
41Nitrogen metabolism_Homo sapiens_hsa009101.07521324
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05554017
43Axon guidance_Homo sapiens_hsa043601.03526137
44Glioma_Homo sapiens_hsa052141.03469357
45Vitamin B6 metabolism_Homo sapiens_hsa007501.01075893
46ErbB signaling pathway_Homo sapiens_hsa040120.99756060
47Melanogenesis_Homo sapiens_hsa049160.97635695
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.94823821
49Pancreatic secretion_Homo sapiens_hsa049720.94328884
50Cardiac muscle contraction_Homo sapiens_hsa042600.93792252
51Dorso-ventral axis formation_Homo sapiens_hsa043200.93167888
52Vibrio cholerae infection_Homo sapiens_hsa051100.87969312
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.87040688
54Thyroid hormone synthesis_Homo sapiens_hsa049180.86374662
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84582644
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82428067
57Phenylalanine metabolism_Homo sapiens_hsa003600.81250520
58Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77970330
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.77598090
60Dilated cardiomyopathy_Homo sapiens_hsa054140.76169429
61Phototransduction_Homo sapiens_hsa047440.75347676
62Choline metabolism in cancer_Homo sapiens_hsa052310.73930924
63Type I diabetes mellitus_Homo sapiens_hsa049400.73152960
64Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72333933
65MAPK signaling pathway_Homo sapiens_hsa040100.71250240
66Butanoate metabolism_Homo sapiens_hsa006500.70747132
67Oocyte meiosis_Homo sapiens_hsa041140.70745017
68ABC transporters_Homo sapiens_hsa020100.68985658
69Circadian rhythm_Homo sapiens_hsa047100.66341407
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65976612
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64976329
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61777381
73Tight junction_Homo sapiens_hsa045300.61130747
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60397974
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.59554668
76Ras signaling pathway_Homo sapiens_hsa040140.59037913
77mTOR signaling pathway_Homo sapiens_hsa041500.58323311
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58113875
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57695938
80Chemical carcinogenesis_Homo sapiens_hsa052040.56803861
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56479640
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55140876
83Glucagon signaling pathway_Homo sapiens_hsa049220.55026536
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.54041475
85Alcoholism_Homo sapiens_hsa050340.53312175
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52573671
87VEGF signaling pathway_Homo sapiens_hsa043700.52215317
88Bile secretion_Homo sapiens_hsa049760.51877351
89Maturity onset diabetes of the young_Homo sapiens_hsa049500.51671007
90Rap1 signaling pathway_Homo sapiens_hsa040150.51125953
91Endometrial cancer_Homo sapiens_hsa052130.49918587
92Inositol phosphate metabolism_Homo sapiens_hsa005620.47831967
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47474414
94Fatty acid biosynthesis_Homo sapiens_hsa000610.46934641
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.46239013
96Ovarian steroidogenesis_Homo sapiens_hsa049130.44848780
97Insulin signaling pathway_Homo sapiens_hsa049100.44365277
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43590956
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42461243
100Huntingtons disease_Homo sapiens_hsa050160.42259836
101Prion diseases_Homo sapiens_hsa050200.42021506
102Renal cell carcinoma_Homo sapiens_hsa052110.41790911
103Endocytosis_Homo sapiens_hsa041440.41750944
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41689419
105Tyrosine metabolism_Homo sapiens_hsa003500.41300246
106Arginine biosynthesis_Homo sapiens_hsa002200.39382649
107Wnt signaling pathway_Homo sapiens_hsa043100.38885573
108Sphingolipid metabolism_Homo sapiens_hsa006000.37217453
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36554162
110Non-small cell lung cancer_Homo sapiens_hsa052230.36090093
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35252806
112Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32819746
113Chemokine signaling pathway_Homo sapiens_hsa040620.32713467
114Linoleic acid metabolism_Homo sapiens_hsa005910.32308910
115Mineral absorption_Homo sapiens_hsa049780.30260682
116Prolactin signaling pathway_Homo sapiens_hsa049170.29408203
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.27369766
118Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26946598
119African trypanosomiasis_Homo sapiens_hsa051430.26785427
120Alzheimers disease_Homo sapiens_hsa050100.24067559

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