FREM3

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 an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.43793835
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.58107341
3vocalization behavior (GO:0071625)5.44086746
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.40609953
5synaptic vesicle maturation (GO:0016188)5.13017925
6gamma-aminobutyric acid transport (GO:0015812)5.05078078
7locomotory exploration behavior (GO:0035641)4.94488412
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.90633923
9regulation of glutamate receptor signaling pathway (GO:1900449)4.78417052
10regulation of synaptic vesicle exocytosis (GO:2000300)4.69738615
11protein localization to synapse (GO:0035418)4.67243038
12acrosome assembly (GO:0001675)4.67041291
13positive regulation of synaptic transmission, GABAergic (GO:0032230)4.65268397
14neuron cell-cell adhesion (GO:0007158)4.61945444
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.56109386
16regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.40222885
17neuromuscular process controlling posture (GO:0050884)4.36869968
18L-amino acid import (GO:0043092)4.20354686
19regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.18795815
20synaptic vesicle exocytosis (GO:0016079)4.16742503
21dendritic spine morphogenesis (GO:0060997)4.15600498
22regulation of voltage-gated calcium channel activity (GO:1901385)4.15499739
23long-term memory (GO:0007616)4.14458697
24neurotransmitter secretion (GO:0007269)4.12360503
25regulation of synaptic vesicle transport (GO:1902803)4.06122354
26glutamate secretion (GO:0014047)3.92693837
27glutamate receptor signaling pathway (GO:0007215)3.91582085
28regulation of neuronal synaptic plasticity (GO:0048168)3.91527617
29serotonin metabolic process (GO:0042428)3.91035883
30transmission of nerve impulse (GO:0019226)3.87057111
31glycine transport (GO:0015816)3.82615274
32neuronal action potential propagation (GO:0019227)3.80032806
33layer formation in cerebral cortex (GO:0021819)3.78372697
34positive regulation of dendritic spine development (GO:0060999)3.75918927
35regulation of long-term neuronal synaptic plasticity (GO:0048169)3.75136098
36activation of protein kinase A activity (GO:0034199)3.74318789
37membrane depolarization during action potential (GO:0086010)3.70309955
38neurotransmitter transport (GO:0006836)3.69234193
39response to auditory stimulus (GO:0010996)3.69216721
40regulation of neurotransmitter transport (GO:0051588)3.67756833
41synaptic vesicle endocytosis (GO:0048488)3.67569515
42neurotransmitter-gated ion channel clustering (GO:0072578)3.66526042
43positive regulation of membrane potential (GO:0045838)3.65341140
44exploration behavior (GO:0035640)3.65096597
45synaptic transmission, glutamatergic (GO:0035249)3.63013305
46neuron recognition (GO:0008038)3.62314358
47regulation of protein kinase A signaling (GO:0010738)3.62147213
48synaptic vesicle docking involved in exocytosis (GO:0016081)3.61006975
49proline transport (GO:0015824)3.59902765
50amino acid import (GO:0043090)3.57556512
51behavioral response to cocaine (GO:0048148)3.57548971
52neuronal ion channel clustering (GO:0045161)3.55265427
53postsynaptic membrane organization (GO:0001941)3.55013335
54primary amino compound metabolic process (GO:1901160)3.52952799
55phosphorelay signal transduction system (GO:0000160)3.49227480
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.48919849
57cilium or flagellum-dependent cell motility (GO:0001539)3.45519914
58chemosensory behavior (GO:0007635)3.43059745
59neuron-neuron synaptic transmission (GO:0007270)3.43010957
60dendritic spine organization (GO:0097061)3.41901397
61calcium ion-dependent exocytosis (GO:0017156)3.41714439
62auditory behavior (GO:0031223)3.40833915
63regulation of excitatory postsynaptic membrane potential (GO:0060079)3.40355742
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.38702995
65neuromuscular process controlling balance (GO:0050885)3.38199338
66negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.36017394
67regulation of postsynaptic membrane potential (GO:0060078)3.34278360
68cerebellar Purkinje cell differentiation (GO:0021702)3.33125189
69positive regulation of potassium ion transmembrane transport (GO:1901381)3.31413605
70mating behavior (GO:0007617)3.31397965
71negative regulation of cytosolic calcium ion concentration (GO:0051481)3.30998707
72G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.29918046
73regulation of synapse structural plasticity (GO:0051823)3.29458199
74vesicle transport along microtubule (GO:0047496)3.26402973
75neuromuscular synaptic transmission (GO:0007274)3.26188409
76ventricular system development (GO:0021591)3.25951197
77regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.25811073
78cellular potassium ion homeostasis (GO:0030007)3.23884078
79regulation of neurotransmitter levels (GO:0001505)3.23509551
80negative regulation of synaptic transmission, GABAergic (GO:0032229)3.21108241
81acrosome reaction (GO:0007340)3.18648995
82membrane depolarization (GO:0051899)3.17803449
83negative regulation of dendrite morphogenesis (GO:0050774)3.17322389
84presynaptic membrane assembly (GO:0097105)3.16900825
85regulation of dendritic spine morphogenesis (GO:0061001)3.15805080
86neurotransmitter catabolic process (GO:0042135)3.13339986
87righting reflex (GO:0060013)3.13213778
88cerebellar granule cell differentiation (GO:0021707)3.11970501
89regulation of dendritic spine development (GO:0060998)3.10355340
90regulation of synaptic transmission, glutamatergic (GO:0051966)3.10312997
91calcium ion import (GO:0070509)3.09938734
92adult walking behavior (GO:0007628)3.07663138
93cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.06965139
94positive regulation of synapse assembly (GO:0051965)3.06584460
95regulation of neurotransmitter secretion (GO:0046928)3.06508957
96membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.05554956
97sodium ion export (GO:0071436)3.04077629
98regulation of synaptic transmission (GO:0050804)3.03678576
99potassium ion homeostasis (GO:0055075)3.02267505
100membrane hyperpolarization (GO:0060081)3.00701046
101startle response (GO:0001964)3.00301623
102potassium ion transmembrane transport (GO:0071805)2.99170638
103cellular potassium ion transport (GO:0071804)2.99170638
104neurotransmitter uptake (GO:0001504)2.98711962
105long-term synaptic potentiation (GO:0060291)2.98453402
106negative regulation of cAMP biosynthetic process (GO:0030818)2.97710569
107axonal fasciculation (GO:0007413)2.96684788
108regulation of dendrite morphogenesis (GO:0048814)2.96356757
109synaptic transmission (GO:0007268)2.96242510
110organelle transport along microtubule (GO:0072384)2.93670116
111vesicle docking involved in exocytosis (GO:0006904)2.91722593
112cerebellar Purkinje cell layer development (GO:0021680)2.90849267
113positive regulation of dendritic spine morphogenesis (GO:0061003)2.90373062
114regulation of cAMP-dependent protein kinase activity (GO:2000479)2.90069860
115prepulse inhibition (GO:0060134)2.90064745
116positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.89646609
117cell migration in hindbrain (GO:0021535)2.89249929
118acidic amino acid transport (GO:0015800)2.88839495
119synapse assembly (GO:0007416)2.87983564
120presynaptic membrane organization (GO:0097090)2.87721851
121positive regulation of neurotransmitter transport (GO:0051590)2.86532239
122positive regulation of neurotransmitter secretion (GO:0001956)2.86177028
123regulation of vesicle fusion (GO:0031338)2.85968791
124positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.85718484
125negative regulation of cyclic nucleotide biosynthetic process (GO:0030803)2.84668816
126regulation of synaptic plasticity (GO:0048167)2.84651769
127cell communication by electrical coupling (GO:0010644)2.83595026
128neuromuscular process (GO:0050905)2.83473756
129sleep (GO:0030431)2.80149172
130retinal cone cell development (GO:0046549)2.79752470
131positive regulation of dendrite development (GO:1900006)2.74738335
132negative regulation of cAMP metabolic process (GO:0030815)2.73344283
133regulation of exocytosis (GO:0017157)2.72895844
134negative regulation of nucleotide biosynthetic process (GO:0030809)2.72784319
135negative regulation of purine nucleotide biosynthetic process (GO:1900372)2.72784319
136regulation of sensory perception (GO:0051931)2.72226288
137regulation of sensory perception of pain (GO:0051930)2.72226288

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.64634982
2GBX2_23144817_ChIP-Seq_PC3_Human3.72827457
3ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.38611063
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.84116738
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.75902208
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.73520547
7REST_21632747_ChIP-Seq_MESCs_Mouse2.56268563
8DROSHA_22980978_ChIP-Seq_HELA_Human2.56231740
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.42569514
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.39702281
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.39702281
12NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.38216170
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.28483502
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.25611415
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24814845
16CTBP2_25329375_ChIP-Seq_LNCAP_Human2.20641117
17MTF2_20144788_ChIP-Seq_MESCs_Mouse2.19434175
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.18144732
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.15338927
20JARID2_20075857_ChIP-Seq_MESCs_Mouse2.14809937
21SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.14769052
22TAF15_26573619_Chip-Seq_HEK293_Human2.13607242
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.12635923
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.10456852
25CBX2_27304074_Chip-Seq_ESCs_Mouse2.05904786
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.04212291
27RNF2_27304074_Chip-Seq_ESCs_Mouse1.94726776
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.90757100
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.89304029
30RARB_27405468_Chip-Seq_BRAIN_Mouse1.83895255
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82078909
32TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.76198092
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72749125
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72417656
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.66498840
36SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.63764742
37IKZF1_21737484_ChIP-ChIP_HCT116_Human1.60007926
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.55212823
39SMAD4_21799915_ChIP-Seq_A2780_Human1.50355075
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.48660866
41P300_19829295_ChIP-Seq_ESCs_Human1.47547251
42RNF2_27304074_Chip-Seq_NSC_Mouse1.47027912
43ZNF274_21170338_ChIP-Seq_K562_Hela1.45964884
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45134204
45AR_21572438_ChIP-Seq_LNCaP_Human1.44350324
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40338890
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.36762934
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.29267398
49STAT3_23295773_ChIP-Seq_U87_Human1.28598621
50RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.25476044
51KDM2B_26808549_Chip-Seq_REH_Human1.22865485
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.22703289
53PCGF2_27294783_Chip-Seq_ESCs_Mouse1.22622755
54RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21761918
55NANOG_18555785_Chip-Seq_ESCs_Mouse1.21479148
56TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21136464
57CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20919588
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19891614
59PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.18600469
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.18233266
61* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17673830
62TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16992925
63EGR1_19032775_ChIP-ChIP_M12_Human1.16822927
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16060274
65SOX2_21211035_ChIP-Seq_LN229_Gbm1.15738749
66CBP_20019798_ChIP-Seq_JUKART_Human1.13138127
67IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13138127
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12118537
69KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.11316269
70TCF4_23295773_ChIP-Seq_U87_Human1.11252736
71MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10874773
72AR_19668381_ChIP-Seq_PC3_Human1.09024108
73PIAS1_25552417_ChIP-Seq_VCAP_Human1.08388435
74DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06723094
75THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.06491999
76ER_23166858_ChIP-Seq_MCF-7_Human1.05165462
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04372184
78EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03914800
79RUNX2_22187159_ChIP-Seq_PCA_Human1.02592993
80AR_25329375_ChIP-Seq_VCAP_Human1.02060130
81MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02037194
82E2F1_18555785_Chip-Seq_ESCs_Mouse1.01830983
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.01681274
84CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01375997
85HTT_18923047_ChIP-ChIP_STHdh_Human1.01256165
86NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00761897
87CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00753140
88SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00105886
89* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99447735
90ARNT_22903824_ChIP-Seq_MCF-7_Human0.99152634
91NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98760197
92FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98520679
93SMAD4_21741376_ChIP-Seq_HESCs_Human0.98439704
94P53_22387025_ChIP-Seq_ESCs_Mouse0.98039838
95CMYC_18555785_Chip-Seq_ESCs_Mouse0.97847986
96SMAD_19615063_ChIP-ChIP_OVARY_Human0.97600816
97FLI1_27457419_Chip-Seq_LIVER_Mouse0.97345598
98PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96897764
99POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96512297
100ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95971584
101ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95948090
102SMAD3_21741376_ChIP-Seq_HESCs_Human0.95947716
103FLI1_21867929_ChIP-Seq_TH2_Mouse0.95630187
104P300_18555785_Chip-Seq_ESCs_Mouse0.95156802
105AHR_22903824_ChIP-Seq_MCF-7_Human0.94927796
106POU3F2_20337985_ChIP-ChIP_501MEL_Human0.94422261
107RING1B_27294783_Chip-Seq_NPCs_Mouse0.94282423
108SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94088419
109TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93592018
110P53_22127205_ChIP-Seq_FIBROBLAST_Human0.93449136
111WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93395888
112SUZ12_18555785_Chip-Seq_ESCs_Mouse0.92945573
113YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92603730
114OCT4_18555785_Chip-Seq_ESCs_Mouse0.92378086
115EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.92273942
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91471712
117PRDM14_20953172_ChIP-Seq_ESCs_Human0.91101448
118SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88214140
119SMAD3_21741376_ChIP-Seq_ESCs_Human0.84727532
120LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83918529
121SMAD4_21741376_ChIP-Seq_EPCs_Human0.83234343
122GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83153401
123BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82955401
124PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.80338345
125TET1_21490601_ChIP-Seq_MESCs_Mouse0.80269779
126GATA2_21666600_ChIP-Seq_HMVEC_Human0.79526468
127ESR1_20079471_ChIP-ChIP_T-47D_Human0.78600233

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern6.21711668
2MP0004859_abnormal_synaptic_plasticity5.16479139
3MP0009046_muscle_twitch4.49848125
4MP0003635_abnormal_synaptic_transmissio3.77970925
5MP0009745_abnormal_behavioral_response3.41238905
6MP0002064_seizures3.26070806
7MP0001968_abnormal_touch/_nociception2.91874256
8MP0006276_abnormal_autonomic_nervous2.74407897
9MP0005423_abnormal_somatic_nervous2.72873059
10MP0002063_abnormal_learning/memory/cond2.64903362
11MP0004270_analgesia2.62632615
12MP0001486_abnormal_startle_reflex2.56455992
13MP0002572_abnormal_emotion/affect_behav2.51426417
14MP0002272_abnormal_nervous_system2.37263540
15MP0004142_abnormal_muscle_tone2.35738455
16MP0005623_abnormal_meninges_morphology2.32683493
17MP0001440_abnormal_grooming_behavior2.29846400
18MP0002736_abnormal_nociception_after2.20911809
19MP0001501_abnormal_sleep_pattern2.20669279
20MP0002734_abnormal_mechanical_nocicepti2.14490812
21MP0005410_abnormal_fertilization2.04504926
22MP0003122_maternal_imprinting2.03433623
23MP0002067_abnormal_sensory_capabilities1.95560194
24MP0002822_catalepsy1.70200422
25MP0003787_abnormal_imprinting1.69921555
26MP0002557_abnormal_social/conspecific_i1.68761020
27MP0002733_abnormal_thermal_nociception1.66553801
28MP0000778_abnormal_nervous_system1.65355917
29MP0005646_abnormal_pituitary_gland1.64716683
30MP0001970_abnormal_pain_threshold1.62346330
31MP0002184_abnormal_innervation1.59585950
32MP0001529_abnormal_vocalization1.54513487
33MP0002735_abnormal_chemical_nociception1.52878700
34MP0003633_abnormal_nervous_system1.49672373
35MP0004924_abnormal_behavior1.49034083
36MP0005386_behavior/neurological_phenoty1.49034083
37MP0002638_abnormal_pupillary_reflex1.48255554
38MP0008569_lethality_at_weaning1.48060686
39MP0003183_abnormal_peptide_metabolism1.46921239
40MP0004811_abnormal_neuron_physiology1.40278553
41MP0002066_abnormal_motor_capabilities/c1.37780437
42MP0000751_myopathy1.37662917
43MP0000955_abnormal_spinal_cord1.32617257
44MP0002882_abnormal_neuron_morphology1.30353034
45MP0002909_abnormal_adrenal_gland1.29901483
46MP0005167_abnormal_blood-brain_barrier1.29823388
47MP0003283_abnormal_digestive_organ1.28928428
48MP0004130_abnormal_muscle_cell1.27415933
49MP0001984_abnormal_olfaction1.27188791
50MP0004215_abnormal_myocardial_fiber1.25937929
51MP0002837_dystrophic_cardiac_calcinosis1.25084251
52MP0003075_altered_response_to1.24356632
53MP0005645_abnormal_hypothalamus_physiol1.20111479
54MP0004147_increased_porphyrin_level1.17610533
55MP0004885_abnormal_endolymph1.16737171
56MP0005551_abnormal_eye_electrophysiolog1.14592872
57MP0003631_nervous_system_phenotype1.12638874
58MP0002229_neurodegeneration1.11308622
59MP0009780_abnormal_chondrocyte_physiolo1.10641938
60MP0003123_paternal_imprinting1.10393206
61MP0001485_abnormal_pinna_reflex1.07331050
62MP0004145_abnormal_muscle_electrophysio1.06532038
63MP0002102_abnormal_ear_morphology1.05657738
64MP0003121_genomic_imprinting1.04931831
65MP0002152_abnormal_brain_morphology1.04831615
66MP0010386_abnormal_urinary_bladder1.04747054
67MP0003698_abnormal_male_reproductive1.04370082
68MP0001502_abnormal_circadian_rhythm1.04156934
69MP0006072_abnormal_retinal_apoptosis1.01795229
70MP0008877_abnormal_DNA_methylation1.01624949
71MP0004742_abnormal_vestibular_system0.99320353
72MP0004858_abnormal_nervous_system0.96937052
73MP0008874_decreased_physiological_sensi0.96438462
74MP0003879_abnormal_hair_cell0.96265574
75MP0002653_abnormal_ependyma_morphology0.93273705
76MP0008872_abnormal_physiological_respon0.93226232
77MP0004133_heterotaxia0.90636291
78MP0004085_abnormal_heartbeat0.89084635
79MP0000631_abnormal_neuroendocrine_gland0.86024838
80MP0003634_abnormal_glial_cell0.85054987
81MP0003329_amyloid_beta_deposits0.84777461
82MP0000920_abnormal_myelination0.83490992
83MP0002752_abnormal_somatic_nervous0.83372710
84MP0003690_abnormal_glial_cell0.82902811
85MP0008004_abnormal_stomach_pH0.81568082
86MP0001905_abnormal_dopamine_level0.81034562
87MP0001986_abnormal_taste_sensitivity0.80753641
88MP0000604_amyloidosis0.79561745
89MP0002069_abnormal_eating/drinking_beha0.78305482
90MP0005535_abnormal_body_temperature0.77525484
91MP0003632_abnormal_nervous_system0.76899256
92MP0001756_abnormal_urination0.75784100
93MP0001177_atelectasis0.75550067
94MP0004510_myositis0.75196022
95MP0008961_abnormal_basal_metabolism0.74918328
96MP0003137_abnormal_impulse_conducting0.73970651
97MP0001963_abnormal_hearing_physiology0.73607798
98MP0004484_altered_response_of0.72899731
99MP0001664_abnormal_digestion0.70737281
100MP0004043_abnormal_pH_regulation0.70292551
101MP0000747_muscle_weakness0.70067260
102MP0005377_hearing/vestibular/ear_phenot0.69768260
103MP0003878_abnormal_ear_physiology0.69768260
104MP0002876_abnormal_thyroid_physiology0.69439154
105MP0005394_taste/olfaction_phenotype0.67840016
106MP0005499_abnormal_olfactory_system0.67840016
107MP0005464_abnormal_platelet_physiology0.67771198
108MP0005253_abnormal_eye_physiology0.67578144
109MP0001188_hyperpigmentation0.67010232
110MP0002089_abnormal_postnatal_growth/wei0.65360193
111MP0004233_abnormal_muscle_weight0.64254409
112MP0000230_abnormal_systemic_arterial0.63284948
113MP0000013_abnormal_adipose_tissue0.61515036
114MP0000639_abnormal_adrenal_gland0.60065045
115MP0003045_fibrosis0.57438999
116MP0000026_abnormal_inner_ear0.57388096
117MP0005166_decreased_susceptibility_to0.56641051
118MP0003136_yellow_coat_color0.53921308
119MP0005388_respiratory_system_phenotype0.47188848
120MP0002133_abnormal_respiratory_system0.47188848
121MP0000569_abnormal_digit_pigmentation0.46244624

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.81244998
2Myokymia (HP:0002411)5.17274397
3Focal seizures (HP:0007359)4.66891280
4Supranuclear gaze palsy (HP:0000605)4.59194483
5Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.52268213
6Visual hallucinations (HP:0002367)3.98629361
7Abnormal ciliary motility (HP:0012262)3.93233728
8Progressive inability to walk (HP:0002505)3.82916733
9Generalized tonic-clonic seizures (HP:0002069)3.81083147
10Ventricular fibrillation (HP:0001663)3.75025787
11Genetic anticipation (HP:0003743)3.73729628
12Abnormal respiratory motile cilium physiology (HP:0012261)3.70994327
13Febrile seizures (HP:0002373)3.49658232
14Epileptic encephalopathy (HP:0200134)3.39693057
15Progressive cerebellar ataxia (HP:0002073)3.32474954
16Absence seizures (HP:0002121)3.30972167
17Absent/shortened dynein arms (HP:0200106)3.23580327
18Dynein arm defect of respiratory motile cilia (HP:0012255)3.23580327
19Atonic seizures (HP:0010819)3.17451338
20Anxiety (HP:0000739)3.12187127
21Insomnia (HP:0100785)3.11901592
22Neurofibrillary tangles (HP:0002185)3.03884466
23Epileptiform EEG discharges (HP:0011182)2.98069755
24Urinary bladder sphincter dysfunction (HP:0002839)2.95965328
25Broad-based gait (HP:0002136)2.93658853
26Prolonged QT interval (HP:0001657)2.93412603
27Dysdiadochokinesis (HP:0002075)2.92124028
28Craniofacial dystonia (HP:0012179)2.91782268
29Ankle clonus (HP:0011448)2.86843610
30Impaired vibration sensation in the lower limbs (HP:0002166)2.85183197
31Dialeptic seizures (HP:0011146)2.85095426
32Postural instability (HP:0002172)2.85048319
33Annular pancreas (HP:0001734)2.84955813
34Inability to walk (HP:0002540)2.83170534
35Abnormality of the corticospinal tract (HP:0002492)2.81257225
36Dysmetria (HP:0001310)2.72324597
37Impaired smooth pursuit (HP:0007772)2.69347366
38Lower limb amyotrophy (HP:0007210)2.65331513
39Depression (HP:0000716)2.65073035
40Abnormal eating behavior (HP:0100738)2.62972530
41Spastic gait (HP:0002064)2.62920153
42Rhinitis (HP:0012384)2.61841851
43Action tremor (HP:0002345)2.61646077
44Mutism (HP:0002300)2.60044193
45Slow saccadic eye movements (HP:0000514)2.59702408
46Poor eye contact (HP:0000817)2.57740713
47Abnormal EKG (HP:0003115)2.56987697
48Abnormality of saccadic eye movements (HP:0000570)2.55437353
49EEG with generalized epileptiform discharges (HP:0011198)2.52278615
50Status epilepticus (HP:0002133)2.50281719
51Decreased central vision (HP:0007663)2.48900354
52Impaired vibratory sensation (HP:0002495)2.48358991
53Drooling (HP:0002307)2.42858348
54Excessive salivation (HP:0003781)2.42858348
55Hypsarrhythmia (HP:0002521)2.42028863
56Papilledema (HP:0001085)2.40481708
57Akinesia (HP:0002304)2.37991460
58Cerebral inclusion bodies (HP:0100314)2.36837405
59Intention tremor (HP:0002080)2.36525628
60Truncal ataxia (HP:0002078)2.35177029
61Obstructive sleep apnea (HP:0002870)2.32352351
62Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.30309778
63Gaze-evoked nystagmus (HP:0000640)2.29874433
64Impaired social interactions (HP:0000735)2.26870822
65Abnormal social behavior (HP:0012433)2.26870822
66Degeneration of the lateral corticospinal tracts (HP:0002314)2.26759256
67Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.26759256
68Increased circulating renin level (HP:0000848)2.25298660
69Apathy (HP:0000741)2.25119333
70Urinary urgency (HP:0000012)2.24906964
71Abnormal respiratory epithelium morphology (HP:0012253)2.23083033
72Abnormal respiratory motile cilium morphology (HP:0005938)2.23083033
73Esotropia (HP:0000565)2.21100213
74Molar tooth sign on MRI (HP:0002419)2.19084462
75Abnormality of midbrain morphology (HP:0002418)2.19084462
76Abnormality of ocular smooth pursuit (HP:0000617)2.17556782
77Shoulder girdle muscle weakness (HP:0003547)2.17155759
78Dysmetric saccades (HP:0000641)2.15589815
79Peripheral hypomyelination (HP:0007182)2.15389289
80Bronchomalacia (HP:0002780)2.14312939
81Delusions (HP:0000746)2.12682128
82Calf muscle hypertrophy (HP:0008981)2.11220529
83Torticollis (HP:0000473)2.11139309
84Dyskinesia (HP:0100660)2.10016695
85Incomplete penetrance (HP:0003829)2.08020877
86Amblyopia (HP:0000646)2.07975841
87Abnormality of the lower motor neuron (HP:0002366)2.07295761
88Hemiparesis (HP:0001269)2.07278602
89Syncope (HP:0001279)2.05162686
90Overriding aorta (HP:0002623)2.03842348
91Onion bulb formation (HP:0003383)2.01360366
92Abnormality of binocular vision (HP:0011514)2.00019560
93Diplopia (HP:0000651)2.00019560
94Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.99667222
95Rigidity (HP:0002063)1.98929576
96Tracheomalacia (HP:0002779)1.98874096
97Hemiplegia (HP:0002301)1.98650116
98Focal dystonia (HP:0004373)1.96103929
99Polyphagia (HP:0002591)1.96094264
100Nonprogressive disorder (HP:0003680)1.95776424
101Muscle hypertrophy of the lower extremities (HP:0008968)1.95576754
102Menorrhagia (HP:0000132)1.94092901
103Morphological abnormality of the pyramidal tract (HP:0002062)1.93696897
104Diminished motivation (HP:0000745)1.93600511
105Lower limb muscle weakness (HP:0007340)1.93077327
106Clonus (HP:0002169)1.92935662
107Stereotypic behavior (HP:0000733)1.91980776
108Upper limb muscle weakness (HP:0003484)1.89693392
109Elfin facies (HP:0004428)1.89503027
110Male infertility (HP:0003251)1.89185878
111Gait imbalance (HP:0002141)1.86552741
112Bradykinesia (HP:0002067)1.86500529
113Hyperventilation (HP:0002883)1.85462060
114Aplasia involving bones of the upper limbs (HP:0009823)1.85085095
115Aplasia of the phalanges of the hand (HP:0009802)1.85085095
116Aplasia involving bones of the extremities (HP:0009825)1.85085095
117Decreased motor nerve conduction velocity (HP:0003431)1.84913326
118Anomalous pulmonary venous return (HP:0010772)1.84648998
119Psychosis (HP:0000709)1.83950249
120Generalized myoclonic seizures (HP:0002123)1.83617178
121Hypoventilation (HP:0002791)1.82061308
122Limb dystonia (HP:0002451)1.79608527
123Blue irides (HP:0000635)1.79605286
124Type II lissencephaly (HP:0007260)1.79017638
125Absent speech (HP:0001344)1.78501865
126Hyperacusis (HP:0010780)1.77385472
127Hypocalcemia (HP:0002901)1.77331372
128Neuronal loss in central nervous system (HP:0002529)1.76433134
129Tetraplegia (HP:0002445)1.75490324
130Amyotrophic lateral sclerosis (HP:0007354)1.73542521
131Prolonged bleeding time (HP:0003010)1.73365641
132Sleep apnea (HP:0010535)1.73353261
133Intellectual disability, profound (HP:0002187)1.72519442
134Spastic tetraparesis (HP:0001285)1.68023591
135Split foot (HP:0001839)1.67288195
136Thyroid-stimulating hormone excess (HP:0002925)1.65553779
137Metabolic alkalosis (HP:0200114)1.65544812
138Paraplegia (HP:0010550)1.61357785
139Attenuation of retinal blood vessels (HP:0007843)1.60738859
140Rapidly progressive (HP:0003678)1.60319955
141Spastic paraplegia (HP:0001258)1.59696882

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.54986391
2MAP3K94.46206187
3TNIK3.86509619
4EPHA42.91004176
5FRK2.72168754
6MARK12.71449850
7NTRK12.70817446
8NTRK22.64199485
9PAK62.49382667
10MAP3K42.48436306
11MINK12.44456051
12MAP2K72.35226610
13SIK22.22301951
14MAP3K122.00703088
15MAP3K131.92709466
16STK381.90824638
17PNCK1.88785590
18FES1.83920477
19DAPK11.75113780
20MAP2K41.67792746
21STK391.65807717
22PRKD31.58976074
23TNK21.56910559
24CDK51.45463025
25CASK1.45451611
26LMTK21.44815727
27LATS21.42043607
28KSR21.28512700
29RIPK41.27710008
30PTK2B1.26055386
31ACVR1B1.24862248
32NEK61.24084704
33STK161.23964247
34UHMK11.23086487
35CAMKK11.15529582
36PINK11.15139671
37OXSR11.13340031
38BMPR21.13319998
39MAPK131.10109229
40SIK31.06704829
41PRKCG1.06221762
42BMPR1B1.05919785
43DAPK21.04303903
44ARAF1.01252724
45STK111.01012427
46CAMK2A1.00489828
47TIE11.00263384
48CAMKK21.00160022
49PRKCH0.97461667
50CAMK40.94120277
51ALK0.92016788
52GRK50.91676309
53WNK40.91528357
54FGR0.90163177
55KSR10.90083435
56CDK190.88261319
57PDK30.84573364
58PDK40.84573364
59CDK150.83180830
60TYRO30.82469170
61PHKG20.81432115
62PHKG10.81432115
63GRK10.80907104
64DYRK1A0.80899366
65CDC42BPA0.80647076
66CDK180.79855013
67CDK140.76558541
68PDK10.74109442
69CAMK10.73200591
70ADRBK10.72453692
71WNK10.72348465
72MAP3K10.72151870
73DAPK30.70782577
74CDK11A0.70285457
75SGK2230.69382102
76SGK4940.69382102
77MAPK120.68769137
78MAPK100.66121804
79MARK20.64256698
80CAMK2B0.63292314
81PDPK10.62955167
82FER0.62231269
83PLK20.61947421
84PAK30.59777306
85BRSK10.59312309
86RET0.57458155
87BRAF0.56938873
88MUSK0.56422587
89CAMK2D0.56346173
90SGK10.56137381
91RPS6KA30.55657166
92ADRBK20.55183150
93MAP3K20.53234258
94SCYL20.51115616
95MAP3K70.50017300
96PKN10.49687890
97BMX0.49025548
98FYN0.46097199
99MAPKAPK50.45770532
100PRKCZ0.44404386
101SGK20.42977732
102MAP2K10.42718082
103PRKCE0.42443839
104MAP3K110.41523296
105ROCK20.41360237
106ERBB20.40942376
107MOS0.40888353
108CSNK1D0.39204514
109PRKCB0.38084819
110CSNK1G20.37926484
111PRKG10.36898552
112PDK20.36551780
113ROCK10.35678883
114CAMK2G0.35385194
115DYRK1B0.33320742
116RPS6KA20.33209572
117SGK30.33034844
118CSNK1E0.32942779
119JAK10.32678443
120PRKCA0.32400985
121INSRR0.32360659
122CAMK1G0.32293599
123PRKAA10.31552601
124JAK20.30748048
125CSNK1A1L0.30701008
126EIF2AK20.30039024
127SRC0.29507699

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.24991443
2GABAergic synapse_Homo sapiens_hsa047273.10588467
3Synaptic vesicle cycle_Homo sapiens_hsa047212.95080335
4Olfactory transduction_Homo sapiens_hsa047402.85654839
5Morphine addiction_Homo sapiens_hsa050322.67942364
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63295373
7Glutamatergic synapse_Homo sapiens_hsa047242.56276258
8Circadian entrainment_Homo sapiens_hsa047132.45246427
9Amphetamine addiction_Homo sapiens_hsa050312.32093277
10Taste transduction_Homo sapiens_hsa047422.25047378
11Long-term potentiation_Homo sapiens_hsa047202.16602730
12Salivary secretion_Homo sapiens_hsa049702.08142485
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.07699219
14Nitrogen metabolism_Homo sapiens_hsa009102.03518290
15Cocaine addiction_Homo sapiens_hsa050302.03235632
16Insulin secretion_Homo sapiens_hsa049111.91905980
17Dopaminergic synapse_Homo sapiens_hsa047281.86511925
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85546273
19Renin secretion_Homo sapiens_hsa049241.81300166
20Cardiac muscle contraction_Homo sapiens_hsa042601.77178930
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76466767
22Gastric acid secretion_Homo sapiens_hsa049711.72360636
23Phototransduction_Homo sapiens_hsa047441.64310068
24Cholinergic synapse_Homo sapiens_hsa047251.63980325
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.63357027
26Calcium signaling pathway_Homo sapiens_hsa040201.60440272
27Serotonergic synapse_Homo sapiens_hsa047261.59794695
28Oxytocin signaling pathway_Homo sapiens_hsa049211.39832883
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37349367
30Estrogen signaling pathway_Homo sapiens_hsa049151.29496615
31Long-term depression_Homo sapiens_hsa047301.29367713
32Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.28911893
33Gap junction_Homo sapiens_hsa045401.28885473
34cAMP signaling pathway_Homo sapiens_hsa040241.22682910
35Oocyte meiosis_Homo sapiens_hsa041141.20834478
36Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.19215279
37GnRH signaling pathway_Homo sapiens_hsa049121.18948573
38Melanogenesis_Homo sapiens_hsa049161.18932516
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.17754296
40Axon guidance_Homo sapiens_hsa043601.16581838
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.16435161
42Oxidative phosphorylation_Homo sapiens_hsa001901.16303595
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.15915846
44Collecting duct acid secretion_Homo sapiens_hsa049661.10442809
45Dorso-ventral axis formation_Homo sapiens_hsa043201.02343932
46Parkinsons disease_Homo sapiens_hsa050120.99999551
47Huntingtons disease_Homo sapiens_hsa050160.99843513
48Alzheimers disease_Homo sapiens_hsa050100.97909260
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.95898163
50Cyanoamino acid metabolism_Homo sapiens_hsa004600.95878839
51Phosphatidylinositol signaling system_Homo sapiens_hsa040700.91445218
52Dilated cardiomyopathy_Homo sapiens_hsa054140.91420143
53SNARE interactions in vesicular transport_Homo sapiens_hsa041300.90413050
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85881891
55Type II diabetes mellitus_Homo sapiens_hsa049300.85176865
56cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84966993
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82215165
58Bile secretion_Homo sapiens_hsa049760.81286285
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78896942
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.78524144
61Glucagon signaling pathway_Homo sapiens_hsa049220.78034154
62Thyroid hormone synthesis_Homo sapiens_hsa049180.72881600
63Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71274425
64ABC transporters_Homo sapiens_hsa020100.70255567
65Pancreatic secretion_Homo sapiens_hsa049720.69593809
66Prion diseases_Homo sapiens_hsa050200.69302720
67Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68308426
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67888805
69Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.67596776
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66659404
71Butanoate metabolism_Homo sapiens_hsa006500.64194025
72Vibrio cholerae infection_Homo sapiens_hsa051100.61369954
73Ovarian steroidogenesis_Homo sapiens_hsa049130.61054693
74Fatty acid biosynthesis_Homo sapiens_hsa000610.60634747
75VEGF signaling pathway_Homo sapiens_hsa043700.60342601
76Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59817456
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58756231
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58680555
79ErbB signaling pathway_Homo sapiens_hsa040120.57644237
80Glioma_Homo sapiens_hsa052140.54495822
81Lysine degradation_Homo sapiens_hsa003100.54244492
82Alcoholism_Homo sapiens_hsa050340.53932185
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.52338382
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.50533044
85Arginine biosynthesis_Homo sapiens_hsa002200.49474382
86MAPK signaling pathway_Homo sapiens_hsa040100.46804637
87Ras signaling pathway_Homo sapiens_hsa040140.45548746
88Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45393501
89Vitamin B6 metabolism_Homo sapiens_hsa007500.44892564
90Type I diabetes mellitus_Homo sapiens_hsa049400.44353081
91Wnt signaling pathway_Homo sapiens_hsa043100.42343646
92Hedgehog signaling pathway_Homo sapiens_hsa043400.40530458
93Ether lipid metabolism_Homo sapiens_hsa005650.40014085
94Choline metabolism in cancer_Homo sapiens_hsa052310.39936296
95Rap1 signaling pathway_Homo sapiens_hsa040150.39285396
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.39004822
97Endocytosis_Homo sapiens_hsa041440.34527302
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34452395
99Chemokine signaling pathway_Homo sapiens_hsa040620.34062541
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31898323
101Regulation of autophagy_Homo sapiens_hsa041400.31840784
102Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.31696723
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31537178
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.31203606
105Tight junction_Homo sapiens_hsa045300.30632524
106Inositol phosphate metabolism_Homo sapiens_hsa005620.30287402
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29589915
108Circadian rhythm_Homo sapiens_hsa047100.27926129
109Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26204583
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25792901
111Primary bile acid biosynthesis_Homo sapiens_hsa001200.25654695
112Platelet activation_Homo sapiens_hsa046110.24308818
113AMPK signaling pathway_Homo sapiens_hsa041520.19950431
114beta-Alanine metabolism_Homo sapiens_hsa004100.19787471
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.19591100
116HIF-1 signaling pathway_Homo sapiens_hsa040660.19510172
117Renal cell carcinoma_Homo sapiens_hsa052110.18598048
118mTOR signaling pathway_Homo sapiens_hsa041500.18577987
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.18161669
120Insulin signaling pathway_Homo sapiens_hsa049100.18065167
121Protein digestion and absorption_Homo sapiens_hsa049740.17921390
122Glycerolipid metabolism_Homo sapiens_hsa005610.17629889

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