PITPNM3

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 member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple 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)6.28869960
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.08829360
3synaptic vesicle maturation (GO:0016188)6.04464771
4regulation of rhodopsin mediated signaling pathway (GO:0022400)5.70297264
5rhodopsin mediated signaling pathway (GO:0016056)5.57114116
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.44323663
7retinal cone cell development (GO:0046549)5.40388581
8locomotory exploration behavior (GO:0035641)5.27001700
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.25430345
10synaptic vesicle exocytosis (GO:0016079)5.08177369
11glutamate secretion (GO:0014047)4.96040044
12regulation of synaptic vesicle exocytosis (GO:2000300)4.92928057
13photoreceptor cell development (GO:0042461)4.76490728
14vocalization behavior (GO:0071625)4.66772918
15regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.62761864
16cerebellar granule cell differentiation (GO:0021707)4.61272682
17eye photoreceptor cell development (GO:0042462)4.55189506
18regulation of synaptic vesicle transport (GO:1902803)4.34543390
19L-amino acid import (GO:0043092)4.32459457
20cellular potassium ion homeostasis (GO:0030007)4.32430301
21protein localization to synapse (GO:0035418)4.28927530
22neurotransmitter secretion (GO:0007269)4.25366301
23photoreceptor cell maintenance (GO:0045494)4.24264523
24sodium ion export (GO:0071436)4.21766212
25cytoskeletal anchoring at plasma membrane (GO:0007016)4.18946008
26amino acid import (GO:0043090)4.18466844
27regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.13406554
28regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.11265909
29positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.09259742
30retinal rod cell development (GO:0046548)4.05171989
31neuronal action potential propagation (GO:0019227)3.97980132
32regulation of glutamate receptor signaling pathway (GO:1900449)3.97449786
33negative regulation of synaptic transmission, GABAergic (GO:0032229)3.93822405
34detection of light stimulus involved in visual perception (GO:0050908)3.92695563
35detection of light stimulus involved in sensory perception (GO:0050962)3.92695563
36regulation of synapse maturation (GO:0090128)3.90063009
37positive regulation of dendritic spine development (GO:0060999)3.87000999
38neuronal ion channel clustering (GO:0045161)3.77197835
39positive regulation of membrane potential (GO:0045838)3.76394582
40regulation of clathrin-mediated endocytosis (GO:2000369)3.75271028
41postsynaptic membrane organization (GO:0001941)3.73760811
42regulation of neuronal synaptic plasticity (GO:0048168)3.71631733
43layer formation in cerebral cortex (GO:0021819)3.70095246
44dendritic spine organization (GO:0097061)3.69682601
45negative regulation of dendrite morphogenesis (GO:0050774)3.69288010
46positive regulation of guanylate cyclase activity (GO:0031284)3.68206122
47ionotropic glutamate receptor signaling pathway (GO:0035235)3.68007892
48synaptic transmission, glutamatergic (GO:0035249)3.66289986
49chemosensory behavior (GO:0007635)3.65039999
50regulation of long-term neuronal synaptic plasticity (GO:0048169)3.64669121
51cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.64318531
52exploration behavior (GO:0035640)3.64176912
53phototransduction (GO:0007602)3.63949668
54neurotransmitter transport (GO:0006836)3.61515944
55response to pheromone (GO:0019236)3.60608619
56regulation of voltage-gated calcium channel activity (GO:1901385)3.59241427
57membrane hyperpolarization (GO:0060081)3.56736437
58positive regulation of neurotransmitter transport (GO:0051590)3.54307732
59neuron-neuron synaptic transmission (GO:0007270)3.51250218
60gamma-aminobutyric acid transport (GO:0015812)3.50629912
61detection of light stimulus (GO:0009583)3.50437405
62cerebellar Purkinje cell differentiation (GO:0021702)3.49356915
63regulation of neurotransmitter secretion (GO:0046928)3.48579041
64long-term memory (GO:0007616)3.46888465
65dendritic spine morphogenesis (GO:0060997)3.45702201
66regulation of excitatory postsynaptic membrane potential (GO:0060079)3.44986234
67regulation of postsynaptic membrane potential (GO:0060078)3.42906366
68central nervous system myelination (GO:0022010)3.42299985
69axon ensheathment in central nervous system (GO:0032291)3.42299985
70positive regulation of dendritic spine morphogenesis (GO:0061003)3.40468490
71regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.39058085
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.38087001
73neurotransmitter-gated ion channel clustering (GO:0072578)3.37234666
74glutamate receptor signaling pathway (GO:0007215)3.35014011
75G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.33701726
76activation of protein kinase A activity (GO:0034199)3.30430730
77regulation of guanylate cyclase activity (GO:0031282)3.29429829
78regulation of dendritic spine morphogenesis (GO:0061001)3.28404785
79cell communication by electrical coupling (GO:0010644)3.27152217
80neuromuscular process controlling posture (GO:0050884)3.26169722
81phototransduction, visible light (GO:0007603)3.24205604
82detection of visible light (GO:0009584)3.24050569
83potassium ion import (GO:0010107)3.23976624
84cell communication involved in cardiac conduction (GO:0086065)3.23011260
85regulation of vesicle fusion (GO:0031338)3.22602537
86neuron cell-cell adhesion (GO:0007158)3.20065851
87synaptic vesicle endocytosis (GO:0048488)3.20024140
88regulation of synapse structural plasticity (GO:0051823)3.19155309
89regulation of dendritic spine development (GO:0060998)3.18687555
90positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.16644056
91potassium ion homeostasis (GO:0055075)3.16630367
92regulation of ARF protein signal transduction (GO:0032012)3.15370234
93visual perception (GO:0007601)3.14548624
94regulation of neurotransmitter transport (GO:0051588)3.13964520
95sensory perception of light stimulus (GO:0050953)3.11434399
96response to histamine (GO:0034776)3.11315886
97long-term synaptic potentiation (GO:0060291)3.10243204
98regulation of neurotransmitter levels (GO:0001505)3.08928606
99positive regulation of neurotransmitter secretion (GO:0001956)3.06949610
100auditory behavior (GO:0031223)3.05943975
101regulation of synaptic transmission (GO:0050804)3.02727390
102proline transport (GO:0015824)3.01810650
103regulation of calcium ion-dependent exocytosis (GO:0017158)3.01659143
104neuromuscular process controlling balance (GO:0050885)3.00834532
105positive regulation of vesicle fusion (GO:0031340)3.00640403
106photoreceptor cell differentiation (GO:0046530)3.00621366
107eye photoreceptor cell differentiation (GO:0001754)3.00621366
108regulation of synaptic plasticity (GO:0048167)2.95970662
109neuromuscular synaptic transmission (GO:0007274)2.95825845
110protein-chromophore linkage (GO:0018298)2.94547122
111membrane depolarization during action potential (GO:0086010)2.93733434
112glycine transport (GO:0015816)2.93241870
113acidic amino acid transport (GO:0015800)2.93079105
114synaptic transmission (GO:0007268)2.92883923
115positive regulation of dendrite development (GO:1900006)2.91888089
116neuromuscular process (GO:0050905)2.90860409
117positive regulation of synapse maturation (GO:0090129)2.90482776
118innervation (GO:0060384)2.89896566
119G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.86964191
120membrane depolarization (GO:0051899)2.86430691
121serotonin metabolic process (GO:0042428)2.82897253
122cell migration in hindbrain (GO:0021535)2.82454430
123mating behavior (GO:0007617)2.81512204
124behavioral response to cocaine (GO:0048148)2.80901359
125gamma-aminobutyric acid signaling pathway (GO:0007214)2.78519040
126calcium ion-dependent exocytosis (GO:0017156)2.78214366
127acid secretion (GO:0046717)2.78162865
128positive regulation of synaptic transmission (GO:0050806)2.77536309
129cellular sodium ion homeostasis (GO:0006883)2.77235956
130establishment of synaptic vesicle localization (GO:0097480)2.76145991
131synaptic vesicle transport (GO:0048489)2.76145991
132behavioral response to ethanol (GO:0048149)2.75717014
133transmission of nerve impulse (GO:0019226)2.75037670
134cell differentiation in hindbrain (GO:0021533)2.74331405

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.89789351
2GBX2_23144817_ChIP-Seq_PC3_Human2.89632257
3* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.83299214
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.79640557
5* DROSHA_22980978_ChIP-Seq_HELA_Human2.72018426
6REST_21632747_ChIP-Seq_MESCs_Mouse2.61506314
7* RARB_27405468_Chip-Seq_BRAIN_Mouse2.56522640
8* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.56212554
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52581933
10* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52581933
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.50512092
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45281483
13* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43989857
14THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.30783813
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.27188360
16* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.26391095
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24338433
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.23550556
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.22544752
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.20007284
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.18526853
22TP63_17297297_ChIP-ChIP_HaCaT_Human2.13840504
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.10969507
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.09090301
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.05282985
26* RNF2_27304074_Chip-Seq_ESCs_Mouse2.04784778
27EED_16625203_ChIP-ChIP_MESCs_Mouse1.95429010
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.84555385
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.77998469
30RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.68678695
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68210958
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.59744511
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.59536387
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58460638
35AR_21572438_ChIP-Seq_LNCaP_Human1.57303132
36* SMAD4_21799915_ChIP-Seq_A2780_Human1.50691794
37* ERG_21242973_ChIP-ChIP_JURKAT_Human1.50223087
38KDM2B_26808549_Chip-Seq_K562_Human1.46692555
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41356409
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.40560632
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33938600
42LXR_22292898_ChIP-Seq_THP-1_Human1.33394667
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.33364219
44* AR_19668381_ChIP-Seq_PC3_Human1.33291113
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31845429
46* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27772794
47RING1B_27294783_Chip-Seq_ESCs_Mouse1.25476264
48DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23894310
49SOX2_21211035_ChIP-Seq_LN229_Gbm1.23756571
50ZNF274_21170338_ChIP-Seq_K562_Hela1.23058430
51* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21824954
52GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21692208
53STAT3_23295773_ChIP-Seq_U87_Human1.20964339
54GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20845299
55ZNF217_24962896_ChIP-Seq_MCF-7_Human1.19448984
56CTBP1_25329375_ChIP-Seq_LNCAP_Human1.19206900
57* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.18424318
58NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18407189
59CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.17436545
60SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16408994
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16244515
62* RING1B_27294783_Chip-Seq_NPCs_Mouse1.16037858
63CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15990036
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13436320
65SMAD3_21741376_ChIP-Seq_HESCs_Human1.12588939
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12193122
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08704261
68OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.06107376
69* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05803109
70TRIM28_21343339_ChIP-Seq_HEK293_Human1.05170850
71BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05040386
72* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04916342
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04478489
74SMAD3_21741376_ChIP-Seq_EPCs_Human1.03971761
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.03501994
76AR_25329375_ChIP-Seq_VCAP_Human1.02825020
77AHR_22903824_ChIP-Seq_MCF-7_Human1.02533588
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02115275
79PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.02111708
80TOP2B_26459242_ChIP-Seq_MCF-7_Human1.01731984
81P300_19829295_ChIP-Seq_ESCs_Human1.01659593
82PIAS1_25552417_ChIP-Seq_VCAP_Human1.01637579
83PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01429822
84ARNT_22903824_ChIP-Seq_MCF-7_Human1.01386398
85* TCF4_23295773_ChIP-Seq_U87_Human1.00218180
86SMAD4_21741376_ChIP-Seq_HESCs_Human0.99911296
87SMAD_19615063_ChIP-ChIP_OVARY_Human0.99839743
88SMAD3_21741376_ChIP-Seq_ESCs_Human0.99283852
89* CTCF_27219007_Chip-Seq_Bcells_Human0.99053183
90CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.97565339
91DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.96567263
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96493447
93UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.95689667
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94475282
95TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94110000
96ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93773825
97TET1_21490601_ChIP-Seq_MESCs_Mouse0.93576293
98BCAT_22108803_ChIP-Seq_LS180_Human0.90493022
99PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90225523
100SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90128193
101OCT4_19829295_ChIP-Seq_ESCs_Human0.90072906
102PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89893627
103CREB1_26743006_Chip-Seq_LNCaP_Human0.89406672
104EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.89250797
105GATA1_26923725_Chip-Seq_HPCs_Mouse0.89147335
106SRY_22984422_ChIP-ChIP_TESTIS_Rat0.88428000
107EP300_21415370_ChIP-Seq_HL-1_Mouse0.87806783
108* TP53_23651856_ChIP-Seq_MEFs_Mouse0.87698536
109TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87124911
110TAF15_26573619_Chip-Seq_HEK293_Human0.87102389
111ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.86997792
112SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86921878
113OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86854531
114CBX2_27304074_Chip-Seq_ESCs_Mouse0.86747179
115SMC4_20622854_ChIP-Seq_HELA_Human0.85698755
116RXR_22108803_ChIP-Seq_LS180_Human0.85667685
117ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85556870
118SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84496669
119RARG_19884340_ChIP-ChIP_MEFs_Mouse0.84439171
120SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84175338
121NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84029270
122BMI1_23680149_ChIP-Seq_NPCS_Mouse0.83988159
123TP63_22573176_ChIP-Seq_HFKS_Human0.83329991
124TP53_20018659_ChIP-ChIP_R1E_Mouse0.82935414
125VDR_22108803_ChIP-Seq_LS180_Human0.82836167
126* KLF4_19829295_ChIP-Seq_ESCs_Human0.82794055
127ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.82537387
128CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.80239799
129P68_20966046_ChIP-Seq_HELA_Human0.79240176
130RNF2_27304074_Chip-Seq_NSC_Mouse0.77864503
131ESR1_21235772_ChIP-Seq_MCF-7_Human0.75581425

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.31918064
2MP0005551_abnormal_eye_electrophysiolog4.89316839
3MP0003011_delayed_dark_adaptation3.60868909
4MP0003635_abnormal_synaptic_transmissio3.56034791
5MP0003880_abnormal_central_pattern3.54709282
6MP0005423_abnormal_somatic_nervous3.39814801
7MP0006072_abnormal_retinal_apoptosis3.39625841
8MP0004270_analgesia3.38527810
9MP0005253_abnormal_eye_physiology3.24138535
10MP0009046_muscle_twitch2.91982499
11MP0009745_abnormal_behavioral_response2.79585294
12MP0002064_seizures2.73993842
13MP0002063_abnormal_learning/memory/cond2.70684133
14MP0002272_abnormal_nervous_system2.43794445
15MP0002734_abnormal_mechanical_nocicepti2.35723454
16MP0001486_abnormal_startle_reflex2.33432494
17MP0002572_abnormal_emotion/affect_behav2.32566721
18MP0001968_abnormal_touch/_nociception2.28733822
19MP0000579_abnormal_nail_morphology2.24567536
20MP0009780_abnormal_chondrocyte_physiolo2.18024741
21MP0002822_catalepsy2.13431565
22MP0002909_abnormal_adrenal_gland2.01087408
23MP0002229_neurodegeneration1.95098908
24MP0001501_abnormal_sleep_pattern1.93689937
25MP0008569_lethality_at_weaning1.91925079
26MP0005195_abnormal_posterior_eye1.84579860
27MP0002090_abnormal_vision1.79596797
28MP0001502_abnormal_circadian_rhythm1.74257582
29MP0002067_abnormal_sensory_capabilities1.70522452
30MP0004885_abnormal_endolymph1.69303855
31MP0002638_abnormal_pupillary_reflex1.68935704
32MP0002882_abnormal_neuron_morphology1.68399042
33MP0001440_abnormal_grooming_behavior1.61556231
34MP0001984_abnormal_olfaction1.57871509
35MP0003283_abnormal_digestive_organ1.55832647
36MP0001970_abnormal_pain_threshold1.52725291
37MP0002733_abnormal_thermal_nociception1.48220543
38MP0005386_behavior/neurological_phenoty1.45712332
39MP0004924_abnormal_behavior1.45712332
40MP0002184_abnormal_innervation1.44887464
41MP0004811_abnormal_neuron_physiology1.44465996
42MP0005646_abnormal_pituitary_gland1.44160235
43MP0002557_abnormal_social/conspecific_i1.43117331
44MP0003329_amyloid_beta_deposits1.42241745
45MP0002736_abnormal_nociception_after1.41825773
46MP0003879_abnormal_hair_cell1.39525916
47MP0001324_abnormal_eye_pigmentation1.37360780
48MP0000013_abnormal_adipose_tissue1.33273361
49MP0004145_abnormal_muscle_electrophysio1.33060734
50MP0002752_abnormal_somatic_nervous1.32754833
51MP0005391_vision/eye_phenotype1.30823001
52MP0002653_abnormal_ependyma_morphology1.29549258
53MP0004858_abnormal_nervous_system1.28086884
54MP0000955_abnormal_spinal_cord1.25567301
55MP0002735_abnormal_chemical_nociception1.25210864
56MP0010234_abnormal_vibrissa_follicle1.24937317
57MP0003633_abnormal_nervous_system1.24297108
58MP0001348_abnormal_lacrimal_gland1.22072787
59MP0002066_abnormal_motor_capabilities/c1.20839954
60MP0005409_darkened_coat_color1.16585910
61MP0000778_abnormal_nervous_system1.15692270
62MP0004043_abnormal_pH_regulation1.13283287
63MP0000566_synostosis1.11827496
64MP0010386_abnormal_urinary_bladder1.06732847
65MP0008961_abnormal_basal_metabolism1.05831291
66MP0004233_abnormal_muscle_weight1.03072497
67MP0003705_abnormal_hypodermis_morpholog1.02796551
68MP0001986_abnormal_taste_sensitivity1.01841797
69MP0003631_nervous_system_phenotype0.98565557
70MP0005499_abnormal_olfactory_system0.98474213
71MP0005394_taste/olfaction_phenotype0.98474213
72MP0004142_abnormal_muscle_tone0.96764921
73MP0003634_abnormal_glial_cell0.96471743
74MP0005645_abnormal_hypothalamus_physiol0.96305578
75MP0002152_abnormal_brain_morphology0.94131921
76MP0003123_paternal_imprinting0.89840227
77MP0003787_abnormal_imprinting0.89340247
78MP0000604_amyloidosis0.87366106
79MP0001177_atelectasis0.87036835
80MP0005187_abnormal_penis_morphology0.86288990
81MP0004085_abnormal_heartbeat0.85956136
82MP0006276_abnormal_autonomic_nervous0.85119729
83MP0001485_abnormal_pinna_reflex0.84701790
84MP0003950_abnormal_plasma_membrane0.84490712
85MP0001346_abnormal_lacrimal_gland0.83593984
86MP0002069_abnormal_eating/drinking_beha0.82586241
87MP0004742_abnormal_vestibular_system0.81533104
88MP0008872_abnormal_physiological_respon0.79836777
89MP0000751_myopathy0.79649404
90MP0003122_maternal_imprinting0.79039298
91MP0000631_abnormal_neuroendocrine_gland0.76655629
92MP0000569_abnormal_digit_pigmentation0.76088692
93MP0001963_abnormal_hearing_physiology0.75704933
94MP0003045_fibrosis0.75104387
95MP0003632_abnormal_nervous_system0.73849911
96MP0004215_abnormal_myocardial_fiber0.73772605
97MP0003075_altered_response_to0.70999203
98MP0005535_abnormal_body_temperature0.68988430
99MP0002234_abnormal_pharynx_morphology0.68144652
100MP0001905_abnormal_dopamine_level0.67721881
101MP0003690_abnormal_glial_cell0.67503941
102MP0001765_abnormal_ion_homeostasis0.65237894
103MP0002089_abnormal_postnatal_growth/wei0.62673333
104MP0002249_abnormal_larynx_morphology0.61047740
105MP0000026_abnormal_inner_ear0.58852216
106MP0008874_decreased_physiological_sensi0.58515112
107MP0001299_abnormal_eye_distance/0.57656163
108MP0004147_increased_porphyrin_level0.57506442
109MP0010769_abnormal_survival0.57128399
110MP0000920_abnormal_myelination0.56454641
111MP0006292_abnormal_olfactory_placode0.56437211
112MP0000762_abnormal_tongue_morphology0.55918355
113MP0005623_abnormal_meninges_morphology0.55318398
114MP0001944_abnormal_pancreas_morphology0.55097590
115MP0004130_abnormal_muscle_cell0.54103728
116MP0002796_impaired_skin_barrier0.53195802
117MP0003137_abnormal_impulse_conducting0.53172383
118MP0003861_abnormal_nervous_system0.53147067
119MP0010768_mortality/aging0.53032716
120MP0002082_postnatal_lethality0.52757054
121MP0010770_preweaning_lethality0.52757054
122MP0001943_abnormal_respiration0.52574439
123MP0001188_hyperpigmentation0.52565261
124MP0010771_integument_phenotype0.52479000
125MP0003172_abnormal_lysosome_physiology0.51811180
126MP0010678_abnormal_skin_adnexa0.47839208
127MP0000467_abnormal_esophagus_morphology0.47328600
128MP0005167_abnormal_blood-brain_barrier0.46449112
129MP0003956_abnormal_body_size0.45148333

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)8.57322101
2Absent rod-and cone-mediated responses on ERG (HP:0007688)7.03025969
3Bony spicule pigmentary retinopathy (HP:0007737)6.66387737
4Abnormal rod and cone electroretinograms (HP:0008323)6.56804914
5Central scotoma (HP:0000603)6.45957505
6Abnormality of macular pigmentation (HP:0008002)5.50419907
7Scotoma (HP:0000575)5.20831605
8Pigmentary retinal degeneration (HP:0001146)5.17335230
9Focal motor seizures (HP:0011153)4.92780547
10Dyschromatopsia (HP:0007641)4.90721537
11Chorioretinal atrophy (HP:0000533)4.84748958
12Pendular nystagmus (HP:0012043)4.83996769
13Abolished electroretinogram (ERG) (HP:0000550)4.65526400
14Myokymia (HP:0002411)4.56435835
15Visual hallucinations (HP:0002367)4.51975157
16Neurofibrillary tangles (HP:0002185)4.33994679
17Attenuation of retinal blood vessels (HP:0007843)4.26756277
18Focal seizures (HP:0007359)4.07207316
19Obstructive sleep apnea (HP:0002870)3.94427300
20Type II diabetes mellitus (HP:0005978)3.82654406
21Severe visual impairment (HP:0001141)3.79342323
22Epileptic encephalopathy (HP:0200134)3.74272187
23Posterior subcapsular cataract (HP:0007787)3.72258286
24Progressive cerebellar ataxia (HP:0002073)3.64477777
25Cerebral inclusion bodies (HP:0100314)3.50546963
26Febrile seizures (HP:0002373)3.41862317
27* Decreased central vision (HP:0007663)3.41237148
28* Photophobia (HP:0000613)3.37894926
29Action tremor (HP:0002345)3.37466235
30Annular pancreas (HP:0001734)3.10448036
31Increased corneal curvature (HP:0100692)3.08627043
32Keratoconus (HP:0000563)3.08627043
33Atonic seizures (HP:0010819)3.08346991
34Choroideremia (HP:0001139)3.05583365
35Dysdiadochokinesis (HP:0002075)3.04768572
36Limb dystonia (HP:0002451)3.04574140
37Cone-rod dystrophy (HP:0000548)3.04333390
38* Macular degeneration (HP:0000608)3.01723690
39Akinesia (HP:0002304)2.96802791
40Absence seizures (HP:0002121)2.85384211
41Vitreoretinal degeneration (HP:0000655)2.84451368
42Gaze-evoked nystagmus (HP:0000640)2.80055686
43Constricted visual fields (HP:0001133)2.75110927
44Retinitis pigmentosa (HP:0000510)2.73087597
45Generalized tonic-clonic seizures (HP:0002069)2.71326132
46Supranuclear gaze palsy (HP:0000605)2.67714454
47Depression (HP:0000716)2.65065004
48Broad-based gait (HP:0002136)2.64709604
49Focal dystonia (HP:0004373)2.62092356
50Genetic anticipation (HP:0003743)2.61366190
51Truncal ataxia (HP:0002078)2.60512206
52Cerebral hypomyelination (HP:0006808)2.56042711
53Poor eye contact (HP:0000817)2.55548682
54Tetraplegia (HP:0002445)2.53209106
55Neuronal loss in central nervous system (HP:0002529)2.52598679
56Dialeptic seizures (HP:0011146)2.52041340
57Decreased electroretinogram (ERG) amplitude (HP:0000654)2.46996182
58Urinary urgency (HP:0000012)2.44878956
59Postural instability (HP:0002172)2.44873781
60Impaired smooth pursuit (HP:0007772)2.44519283
61Sleep apnea (HP:0010535)2.44248983
62Craniofacial dystonia (HP:0012179)2.41629755
63Bronchomalacia (HP:0002780)2.38439999
64Apathy (HP:0000741)2.37337457
65Impaired social interactions (HP:0000735)2.37099458
66Abnormal social behavior (HP:0012433)2.37099458
67Lower limb muscle weakness (HP:0007340)2.35024647
68Clonus (HP:0002169)2.35008593
69Dysmetric saccades (HP:0000641)2.34922452
70Anxiety (HP:0000739)2.34603296
71Aplasia involving bones of the extremities (HP:0009825)2.34574393
72Aplasia involving bones of the upper limbs (HP:0009823)2.34574393
73Aplasia of the phalanges of the hand (HP:0009802)2.34574393
74Ankle clonus (HP:0011448)2.33941340
75Delusions (HP:0000746)2.32363258
76Subcapsular cataract (HP:0000523)2.28968644
77Dysmetria (HP:0001310)2.28607836
78Abnormality of nail color (HP:0100643)2.27881555
79Lower limb amyotrophy (HP:0007210)2.24182271
80Hemiplegia (HP:0002301)2.22109982
81Rigidity (HP:0002063)2.20428351
82Papilledema (HP:0001085)2.20251580
83Milia (HP:0001056)2.20095053
84Gait imbalance (HP:0002141)2.19861237
85Urinary bladder sphincter dysfunction (HP:0002839)2.19403913
86Abnormality of ocular smooth pursuit (HP:0000617)2.17392922
87Abnormality of the corticospinal tract (HP:0002492)2.16598065
88Abnormality of the lower motor neuron (HP:0002366)2.16242307
89Intention tremor (HP:0002080)2.14972856
90Retinal atrophy (HP:0001105)2.12178445
91Ventricular fibrillation (HP:0001663)2.10303694
92Distal upper limb amyotrophy (HP:0007149)2.09931805
93Upper limb amyotrophy (HP:0009129)2.09931805
94Scanning speech (HP:0002168)2.05719325
95Onycholysis (HP:0001806)2.02875252
96Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.01919190
97Plantar hyperkeratosis (HP:0007556)2.01041402
98Diminished motivation (HP:0000745)2.00655277
99Rapidly progressive (HP:0003678)2.00527741
100Hemiparesis (HP:0001269)2.00179329
101Impaired vibration sensation in the lower limbs (HP:0002166)1.99999019
102Impaired vibratory sensation (HP:0002495)1.99876830
103Congenital primary aphakia (HP:0007707)1.99277004
104Spastic tetraparesis (HP:0001285)1.98326249
105Hand muscle atrophy (HP:0009130)1.97688907
106Mutism (HP:0002300)1.95629283
107Atrophic scars (HP:0001075)1.93770670
108Amblyopia (HP:0000646)1.91877471
109Bradykinesia (HP:0002067)1.90766865
110Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.88578257
111Abnormality of binocular vision (HP:0011514)1.88139321
112Diplopia (HP:0000651)1.88139321
113Epileptiform EEG discharges (HP:0011182)1.88118832
114EEG with generalized epileptiform discharges (HP:0011198)1.87528619
115Horizontal nystagmus (HP:0000666)1.87049291
116Incomplete penetrance (HP:0003829)1.86144598
117Hyperventilation (HP:0002883)1.83838256
118Split foot (HP:0001839)1.83529005
119Abnormal eating behavior (HP:0100738)1.79992563
120Agitation (HP:0000713)1.79891485
121Fragile nails (HP:0001808)1.78868236
122Fetal akinesia sequence (HP:0001989)1.78741573
123Hypsarrhythmia (HP:0002521)1.78708055
124Excessive salivation (HP:0003781)1.76820804
125Drooling (HP:0002307)1.76820804
126Prolonged QT interval (HP:0001657)1.75258687
127Insomnia (HP:0100785)1.74523761
128Morphological abnormality of the pyramidal tract (HP:0002062)1.74440072
129Spastic gait (HP:0002064)1.73996575
130Peripheral hypomyelination (HP:0007182)1.72889025
131Abnormality of saccadic eye movements (HP:0000570)1.72760575
132* Progressive visual loss (HP:0000529)1.71802296
133Nephrogenic diabetes insipidus (HP:0009806)1.71634165
134Wide nasal bridge (HP:0000431)1.71562187
135Status epilepticus (HP:0002133)1.71459541
136Torticollis (HP:0000473)1.70946264
137Stereotypic behavior (HP:0000733)1.70673167
138Hyperacusis (HP:0010780)1.68883531
139Pheochromocytoma (HP:0002666)1.66712755
140Medial flaring of the eyebrow (HP:0010747)1.65335151
141Syncope (HP:0001279)1.64881414
142Megalencephaly (HP:0001355)1.64738534
143Palmoplantar hyperkeratosis (HP:0000972)1.63359607
144Abnormal EKG (HP:0003115)1.63002623
145Congenital sensorineural hearing impairment (HP:0008527)1.62319720
146Absent speech (HP:0001344)1.58479512
147Bundle branch block (HP:0011710)1.57680194

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.86254982
2MAP3K93.44716298
3EPHA43.31370688
4MAP3K42.81586388
5DAPK22.64934747
6PRKD32.64706880
7PAK62.42384842
8MARK12.31130185
9GRK12.24106576
10CAMKK12.24059095
11MINK12.22816125
12LATS22.17112290
13MAP2K72.06688634
14STK381.88133244
15NTRK21.84889421
16NTRK11.73815719
17KSR21.73203778
18PNCK1.72883352
19MAP2K41.72768283
20PINK11.69221840
21CAMKK21.60900067
22MAP3K21.54447367
23SIK21.53549500
24CDK51.51180679
25GRK51.44490474
26INSRR1.42752620
27CAMK1G1.40238752
28PRKCH1.36720007
29RIPK11.34212963
30RIPK41.34075658
31SGK4941.31867438
32SGK2231.31867438
33MST1R1.27998622
34DAPK11.23178067
35TAOK11.17126146
36PRKCG1.13640751
37CDK191.13450373
38STK111.13088573
39CAMK11.12406440
40UHMK11.10783399
41MAP3K121.09518665
42WNK11.08795306
43PLK21.08701903
44SGK21.07237090
45SGK31.03922174
46KSR11.02228377
47PRPF4B1.01810886
48TYRO31.00832410
49FES0.97946766
50TNIK0.97736508
51ALK0.95425515
52CDC42BPA0.90885756
53PHKG10.89007322
54PHKG20.89007322
55HIPK20.88840885
56RET0.87149507
57CASK0.86135173
58CAMK2A0.85512818
59IRAK20.82685779
60SGK10.82150698
61MAPK130.81240578
62CAMK2G0.79117782
63BRAF0.78807262
64MAP3K10.78435032
65TESK10.78291724
66DYRK1A0.76509116
67PAK30.75512203
68CDK150.75183772
69BRSK10.74809087
70SCYL20.74653425
71CDK180.73724362
72MET0.73437179
73MARK20.71703909
74CAMK40.69273017
75CDK140.67740490
76RPS6KA30.67012586
77PRKG20.65951917
78ICK0.64939410
79EPHA20.64219319
80MAP3K130.64107593
81CDK11A0.63466582
82OXSR10.62432662
83CAMK2D0.61960263
84PDK10.61288740
85MAP3K70.61238773
86NEK10.60086048
87PRKCZ0.59894065
88NEK60.59515241
89PDPK10.58311069
90PKN10.57894571
91CAMK2B0.57418118
92DAPK30.57268074
93CAMK1D0.56927446
94TNK20.55650791
95ADRBK10.54799321
96PRKD20.54698934
97ARAF0.54697363
98PTK20.54330623
99LIMK10.53036507
100LMTK20.52371844
101MAPK100.51153688
102MAPK150.49795136
103CCNB10.49188630
104ERBB20.49070527
105MAPK70.48796494
106TRIB30.48143908
107PRKCB0.47234215
108FYN0.46588873
109AKT30.45567930
110ROCK20.45415376
111CDK120.45310199
112MAPK120.45281796
113WNK40.44133513
114CSNK1G20.43767223
115PRKCE0.43426605
116FER0.42239264
117MAPKAPK50.40114685
118BMPR20.39472192
119MAP2K60.37865432
120ROCK10.37593100
121MAP2K10.36252446
122PDGFRA0.34663377
123RPS6KA20.33988779
124MAPK80.32591974

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047446.53503274
2Synaptic vesicle cycle_Homo sapiens_hsa047213.28093313
3Nicotine addiction_Homo sapiens_hsa050332.87132140
4Olfactory transduction_Homo sapiens_hsa047402.60373749
5GABAergic synapse_Homo sapiens_hsa047272.55657907
6Circadian entrainment_Homo sapiens_hsa047132.40882745
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.33614650
8Glutamatergic synapse_Homo sapiens_hsa047242.30488856
9Insulin secretion_Homo sapiens_hsa049112.19976916
10Morphine addiction_Homo sapiens_hsa050322.19125260
11Long-term potentiation_Homo sapiens_hsa047202.15804421
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.15400611
13Amphetamine addiction_Homo sapiens_hsa050311.99896029
14Dopaminergic synapse_Homo sapiens_hsa047281.92559619
15Cholinergic synapse_Homo sapiens_hsa047251.85759970
16Salivary secretion_Homo sapiens_hsa049701.85338834
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76458087
18Gastric acid secretion_Homo sapiens_hsa049711.69487852
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53546726
20Taste transduction_Homo sapiens_hsa047421.50984747
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.48604688
22Cocaine addiction_Homo sapiens_hsa050301.48235382
23Type II diabetes mellitus_Homo sapiens_hsa049301.44304338
24Oxytocin signaling pathway_Homo sapiens_hsa049211.43987143
25Renin secretion_Homo sapiens_hsa049241.41101099
26Serotonergic synapse_Homo sapiens_hsa047261.39983015
27Vitamin B6 metabolism_Homo sapiens_hsa007501.39865915
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.37938930
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.33745921
30Long-term depression_Homo sapiens_hsa047301.30466682
31Nitrogen metabolism_Homo sapiens_hsa009101.30463156
32Calcium signaling pathway_Homo sapiens_hsa040201.24774600
33cAMP signaling pathway_Homo sapiens_hsa040241.20039185
34GnRH signaling pathway_Homo sapiens_hsa049121.19397236
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16678587
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.12457537
37Gap junction_Homo sapiens_hsa045401.02786357
38Collecting duct acid secretion_Homo sapiens_hsa049661.02754948
39Carbohydrate digestion and absorption_Homo sapiens_hsa049731.01590497
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.99245840
41Pancreatic secretion_Homo sapiens_hsa049720.97249169
42Circadian rhythm_Homo sapiens_hsa047100.96289670
43Estrogen signaling pathway_Homo sapiens_hsa049150.96207470
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93645381
45Thyroid hormone synthesis_Homo sapiens_hsa049180.88339412
46Cardiac muscle contraction_Homo sapiens_hsa042600.86574469
47Dilated cardiomyopathy_Homo sapiens_hsa054140.84751641
48Glioma_Homo sapiens_hsa052140.83301730
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.81817376
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80451744
51Melanogenesis_Homo sapiens_hsa049160.79827104
52Vibrio cholerae infection_Homo sapiens_hsa051100.76773900
53ErbB signaling pathway_Homo sapiens_hsa040120.72761195
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.70032826
55mTOR signaling pathway_Homo sapiens_hsa041500.69072849
56Inositol phosphate metabolism_Homo sapiens_hsa005620.68328658
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.67784056
58Axon guidance_Homo sapiens_hsa043600.67283800
59Histidine metabolism_Homo sapiens_hsa003400.67002244
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.66156721
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65839560
62Glucagon signaling pathway_Homo sapiens_hsa049220.64524015
63Dorso-ventral axis formation_Homo sapiens_hsa043200.61999219
64Maturity onset diabetes of the young_Homo sapiens_hsa049500.61150640
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.59495867
66MAPK signaling pathway_Homo sapiens_hsa040100.58959616
67Bile secretion_Homo sapiens_hsa049760.58882354
68Oocyte meiosis_Homo sapiens_hsa041140.56720475
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54791735
70Choline metabolism in cancer_Homo sapiens_hsa052310.54767931
71Fatty acid biosynthesis_Homo sapiens_hsa000610.54458851
72Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54032228
73Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50740139
74Type I diabetes mellitus_Homo sapiens_hsa049400.49550391
75Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48341806
76Hippo signaling pathway_Homo sapiens_hsa043900.47987320
77Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47068681
78Arginine biosynthesis_Homo sapiens_hsa002200.46211971
79Neurotrophin signaling pathway_Homo sapiens_hsa047220.44331094
80VEGF signaling pathway_Homo sapiens_hsa043700.43852117
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42200168
82Ras signaling pathway_Homo sapiens_hsa040140.41698685
83ECM-receptor interaction_Homo sapiens_hsa045120.41292393
84Alcoholism_Homo sapiens_hsa050340.41150927
85Endocytosis_Homo sapiens_hsa041440.40017950
86Renal cell carcinoma_Homo sapiens_hsa052110.38843786
87Arginine and proline metabolism_Homo sapiens_hsa003300.37987892
88Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.37915136
89Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37915110
90Rap1 signaling pathway_Homo sapiens_hsa040150.37278439
91Ovarian steroidogenesis_Homo sapiens_hsa049130.36590084
92Insulin signaling pathway_Homo sapiens_hsa049100.36293062
93Focal adhesion_Homo sapiens_hsa045100.34194974
94Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34086971
95Endometrial cancer_Homo sapiens_hsa052130.33684165
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33388299
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33262803
98Wnt signaling pathway_Homo sapiens_hsa043100.33234889
99beta-Alanine metabolism_Homo sapiens_hsa004100.32819637
100Phenylalanine metabolism_Homo sapiens_hsa003600.30944451
101Sphingolipid signaling pathway_Homo sapiens_hsa040710.30879379
102Mineral absorption_Homo sapiens_hsa049780.30683631
103Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.30630218
104Chemokine signaling pathway_Homo sapiens_hsa040620.30088111
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.28993908
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28388331
107Non-small cell lung cancer_Homo sapiens_hsa052230.28144345
108Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27972565
109Tight junction_Homo sapiens_hsa045300.27148772
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.26712688
111Prion diseases_Homo sapiens_hsa050200.25752242
112Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.23551092
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23070554

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