SRRM4

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: SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.39174076
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.28337750
3vocalization behavior (GO:0071625)5.15948928
4neuron cell-cell adhesion (GO:0007158)4.88092716
5protein localization to synapse (GO:0035418)4.86651298
6synaptic vesicle exocytosis (GO:0016079)4.83958119
7synaptic vesicle maturation (GO:0016188)4.82792288
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.72859469
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.68324479
10behavioral response to nicotine (GO:0035095)4.55183358
11locomotory exploration behavior (GO:0035641)4.53701624
12layer formation in cerebral cortex (GO:0021819)4.40961632
13dendritic spine morphogenesis (GO:0060997)4.40892183
14axonal fasciculation (GO:0007413)4.40137513
15neuron recognition (GO:0008038)4.37399894
16regulation of glutamate receptor signaling pathway (GO:1900449)4.37088458
17response to pheromone (GO:0019236)4.36775262
18pyrimidine nucleobase catabolic process (GO:0006208)4.34706008
19glutamate secretion (GO:0014047)4.28465722
20regulation of synaptic vesicle exocytosis (GO:2000300)4.25990605
21positive regulation of synapse maturation (GO:0090129)4.23131130
22G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.21757849
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.13859592
24glutamate receptor signaling pathway (GO:0007215)4.13245993
25cell migration in hindbrain (GO:0021535)4.11946855
26regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.09892828
27synaptic vesicle docking involved in exocytosis (GO:0016081)3.98297367
28cerebellar Purkinje cell differentiation (GO:0021702)3.98156964
29neurotransmitter secretion (GO:0007269)3.86828151
30synaptic transmission, glutamatergic (GO:0035249)3.81684990
31regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.78406129
32regulation of synaptic vesicle transport (GO:1902803)3.74526302
33exploration behavior (GO:0035640)3.74281109
34central nervous system projection neuron axonogenesis (GO:0021952)3.73208898
35establishment of mitochondrion localization (GO:0051654)3.68474360
36neuromuscular synaptic transmission (GO:0007274)3.65488087
37dendrite morphogenesis (GO:0048813)3.63311785
38neuron-neuron synaptic transmission (GO:0007270)3.62640016
39negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.61439154
40synaptic vesicle endocytosis (GO:0048488)3.56450278
41neurotransmitter-gated ion channel clustering (GO:0072578)3.54941937
42cerebellar granule cell differentiation (GO:0021707)3.52164875
43regulation of synapse structural plasticity (GO:0051823)3.49107848
44nucleobase catabolic process (GO:0046113)3.48962186
45regulation of synapse maturation (GO:0090128)3.48685161
46regulation of neuronal synaptic plasticity (GO:0048168)3.45770729
47cellular potassium ion homeostasis (GO:0030007)3.42452776
48gamma-aminobutyric acid transport (GO:0015812)3.40186021
49cell communication by electrical coupling (GO:0010644)3.40044560
50long-term memory (GO:0007616)3.39053885
51neuronal action potential propagation (GO:0019227)3.37484766
52neuronal ion channel clustering (GO:0045161)3.37330292
53auditory behavior (GO:0031223)3.35355882
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.34597701
55regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.32372405
56regulation of long-term neuronal synaptic plasticity (GO:0048169)3.30859036
57regulation of postsynaptic membrane potential (GO:0060078)3.29905969
58mitochondrion transport along microtubule (GO:0047497)3.28807203
59establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.28807203
60innervation (GO:0060384)3.26184411
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.25817654
62regulation of neurotransmitter secretion (GO:0046928)3.24691994
63regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24675189
64neurotransmitter transport (GO:0006836)3.23476019
65membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.22568873
66postsynaptic membrane organization (GO:0001941)3.22147862
67positive regulation of dendritic spine morphogenesis (GO:0061003)3.19607605
68cell differentiation in hindbrain (GO:0021533)3.19440992
69transmission of nerve impulse (GO:0019226)3.18748787
70mating behavior (GO:0007617)3.16648076
71positive regulation of synapse assembly (GO:0051965)3.14444508
72response to auditory stimulus (GO:0010996)3.13734554
73membrane hyperpolarization (GO:0060081)3.13488389
74positive regulation of membrane potential (GO:0045838)3.13442370
75membrane depolarization during action potential (GO:0086010)3.11542902
76neurofilament cytoskeleton organization (GO:0060052)3.11511867
77synapse assembly (GO:0007416)3.08968759
78positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.08763667
79regulation of vesicle fusion (GO:0031338)3.08141722
80sodium ion export (GO:0071436)3.07663512
81regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.07579597
82serotonin metabolic process (GO:0042428)3.05547700
83righting reflex (GO:0060013)3.05078302
84behavioral defense response (GO:0002209)3.04642382
85behavioral fear response (GO:0001662)3.04642382
86fear response (GO:0042596)2.98155234
87cerebellum development (GO:0021549)2.98123958
88central nervous system neuron axonogenesis (GO:0021955)2.97447348
89response to histamine (GO:0034776)2.96233043
90primary amino compound metabolic process (GO:1901160)2.94282625
91positive regulation of dendritic spine development (GO:0060999)2.92151942
92presynaptic membrane organization (GO:0097090)2.91969423
93membrane depolarization (GO:0051899)2.89973956
94regulation of synaptic transmission, glutamatergic (GO:0051966)2.89887517
95regulation of neurotransmitter transport (GO:0051588)2.89806539
96regulation of voltage-gated calcium channel activity (GO:1901385)2.89297542
97presynaptic membrane assembly (GO:0097105)2.89132730
98cochlea development (GO:0090102)2.86782474
99dendritic spine organization (GO:0097061)2.86645092
100hippocampus development (GO:0021766)2.86505439
101mechanosensory behavior (GO:0007638)2.86476736
102regulation of respiratory system process (GO:0044065)2.85942328
103synapse organization (GO:0050808)2.85864073
104adult behavior (GO:0030534)2.85838634
105learning (GO:0007612)2.85459751
106axon ensheathment in central nervous system (GO:0032291)2.84488674
107central nervous system myelination (GO:0022010)2.84488674
108positive regulation of neurotransmitter transport (GO:0051590)2.83409508
109regulation of neurotransmitter levels (GO:0001505)2.81812673
110adult walking behavior (GO:0007628)2.81744935
111regulation of dendritic spine morphogenesis (GO:0061001)2.81599739
112negative regulation of synaptic transmission, GABAergic (GO:0032229)2.81376205
113startle response (GO:0001964)2.80884169
114regulation of synaptic plasticity (GO:0048167)2.80424816
115regulation of synapse assembly (GO:0051963)2.79424296
116proline transport (GO:0015824)2.78891841
117positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.77799715
118regulation of synapse organization (GO:0050807)2.77768694

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.17333503
2GBX2_23144817_ChIP-Seq_PC3_Human3.65906235
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02231808
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.97122179
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85327334
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.84187760
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73100391
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73100391
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67386237
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.65031148
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55861632
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.45561295
13EZH2_27294783_Chip-Seq_ESCs_Mouse2.44698401
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.41884975
15SUZ12_27294783_Chip-Seq_ESCs_Mouse2.37403372
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.33092589
17RNF2_27304074_Chip-Seq_ESCs_Mouse2.32449509
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.32122545
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.30629741
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.30266735
21* DROSHA_22980978_ChIP-Seq_HELA_Human2.29784973
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.29425233
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.19585798
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.16052300
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.13951754
26RARB_27405468_Chip-Seq_BRAIN_Mouse1.97663591
27TAF15_26573619_Chip-Seq_HEK293_Human1.85254530
28CBX2_27304074_Chip-Seq_ESCs_Mouse1.83668458
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.83369771
30BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74467898
31PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.71122663
32* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70064972
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.68046115
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.67648007
35* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66518238
36AR_21572438_ChIP-Seq_LNCaP_Human1.65945748
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65311255
38RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.54316048
39* SMAD4_21799915_ChIP-Seq_A2780_Human1.53431104
40ZNF274_21170338_ChIP-Seq_K562_Hela1.50803807
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.49828480
42IKZF1_21737484_ChIP-ChIP_HCT116_Human1.47957292
43RNF2_27304074_Chip-Seq_NSC_Mouse1.47932922
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.44703609
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.41570639
46* P300_19829295_ChIP-Seq_ESCs_Human1.38247704
47RBPJ_22232070_ChIP-Seq_NCS_Mouse1.35921030
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.34286122
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30443995
50* SMAD3_21741376_ChIP-Seq_EPCs_Human1.27882293
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27329470
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.24689197
53IGF1R_20145208_ChIP-Seq_DFB_Human1.22019278
54* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.21497827
55AR_19668381_ChIP-Seq_PC3_Human1.21231329
56* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20273596
57* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18726243
58* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.18200254
59CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17619358
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15316994
61TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14935583
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.14935583
63* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14826710
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.12732364
65STAT3_23295773_ChIP-Seq_U87_Human1.12612401
66VDR_22108803_ChIP-Seq_LS180_Human1.11839599
67GATA1_26923725_Chip-Seq_HPCs_Mouse1.11775423
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11457780
69AR_25329375_ChIP-Seq_VCAP_Human1.11431187
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.10616961
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08257161
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.07924557
73RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07674717
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07202590
75YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06034936
76AHR_22903824_ChIP-Seq_MCF-7_Human1.05917479
77ZFP281_18757296_ChIP-ChIP_E14_Mouse1.03983135
78TCF4_23295773_ChIP-Seq_U87_Human1.02110674
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02013483
80* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00883689
81SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99832909
82SMAD4_21741376_ChIP-Seq_HESCs_Human0.99354313
83TP53_20018659_ChIP-ChIP_R1E_Mouse0.98039791
84* SMAD3_21741376_ChIP-Seq_ESCs_Human0.97991865
85KDM2B_26808549_Chip-Seq_K562_Human0.97242529
86MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.97005819
87* RUNX2_22187159_ChIP-Seq_PCA_Human0.96888009
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96675312
89CBP_20019798_ChIP-Seq_JUKART_Human0.96675312
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96241218
91LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96220178
92* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94607902
93CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94194838
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94155248
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93369044
96FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.92690026
97* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91998211
98TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91104040
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90953497
100* PRDM14_20953172_ChIP-Seq_ESCs_Human0.90151083
101TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89350243
102UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89113292
103* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.88931691
104ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88928719
105CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.88772929
106KDM2B_26808549_Chip-Seq_REH_Human0.88620317
107DNAJC2_21179169_ChIP-ChIP_NT2_Human0.87583460
108STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.87041703
109SOX9_26525672_Chip-Seq_HEART_Mouse0.86812918
110SMAD3_21741376_ChIP-Seq_HESCs_Human0.86572364
111ER_23166858_ChIP-Seq_MCF-7_Human0.86497817
112NANOG_18555785_Chip-Seq_ESCs_Mouse0.86469334
113* CTCF_27219007_Chip-Seq_Bcells_Human0.85097911
114FUS_26573619_Chip-Seq_HEK293_Human0.84999426
115BCAT_22108803_ChIP-Seq_LS180_Human0.84971532

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.74660048
2MP0003880_abnormal_central_pattern3.79250795
3MP0003635_abnormal_synaptic_transmissio3.35185807
4MP0005423_abnormal_somatic_nervous3.02977778
5MP0004270_analgesia2.93624711
6MP0002653_abnormal_ependyma_morphology2.86466917
7MP0002063_abnormal_learning/memory/cond2.74473655
8MP0009046_muscle_twitch2.64076276
9MP0009745_abnormal_behavioral_response2.62285411
10MP0005551_abnormal_eye_electrophysiolog2.51541006
11MP0002064_seizures2.49413211
12MP0000778_abnormal_nervous_system2.40594973
13MP0001984_abnormal_olfaction2.37703670
14MP0001968_abnormal_touch/_nociception2.33558706
15MP0006276_abnormal_autonomic_nervous2.29096843
16MP0002734_abnormal_mechanical_nocicepti2.27319269
17MP0002572_abnormal_emotion/affect_behav2.26804851
18MP0002184_abnormal_innervation2.25855283
19MP0001486_abnormal_startle_reflex2.20740996
20MP0006072_abnormal_retinal_apoptosis2.11582080
21MP0002272_abnormal_nervous_system2.10703623
22MP0005394_taste/olfaction_phenotype2.08466861
23MP0005499_abnormal_olfactory_system2.08466861
24MP0006292_abnormal_olfactory_placode1.95297036
25MP0001440_abnormal_grooming_behavior1.88275347
26MP0002067_abnormal_sensory_capabilities1.87498456
27MP0008789_abnormal_olfactory_epithelium1.85817913
28MP0005645_abnormal_hypothalamus_physiol1.85270833
29MP0002557_abnormal_social/conspecific_i1.84806855
30MP0002735_abnormal_chemical_nociception1.83132599
31MP0002638_abnormal_pupillary_reflex1.81215392
32MP0010386_abnormal_urinary_bladder1.74676685
33MP0002736_abnormal_nociception_after1.68524960
34MP0008569_lethality_at_weaning1.66398338
35MP0002882_abnormal_neuron_morphology1.65811695
36MP0001502_abnormal_circadian_rhythm1.64968048
37MP0002733_abnormal_thermal_nociception1.62749207
38MP0005253_abnormal_eye_physiology1.61557582
39MP0004811_abnormal_neuron_physiology1.56749398
40MP0001970_abnormal_pain_threshold1.54722691
41MP0003787_abnormal_imprinting1.54125549
42MP0000955_abnormal_spinal_cord1.51594207
43MP0005646_abnormal_pituitary_gland1.47616947
44MP0004924_abnormal_behavior1.46624191
45MP0005386_behavior/neurological_phenoty1.46624191
46MP0008877_abnormal_DNA_methylation1.45639817
47MP0001501_abnormal_sleep_pattern1.45265524
48MP0003122_maternal_imprinting1.41436577
49MP0002752_abnormal_somatic_nervous1.40084850
50MP0002822_catalepsy1.37272892
51MP0000569_abnormal_digit_pigmentation1.34245560
52MP0004145_abnormal_muscle_electrophysio1.29319641
53MP0002152_abnormal_brain_morphology1.29304019
54MP0001529_abnormal_vocalization1.29190596
55MP0002909_abnormal_adrenal_gland1.27703063
56MP0002751_abnormal_autonomic_nervous1.27623256
57MP0002066_abnormal_motor_capabilities/c1.27471616
58MP0000631_abnormal_neuroendocrine_gland1.27360593
59MP0004142_abnormal_muscle_tone1.26279217
60MP0004885_abnormal_endolymph1.24600826
61MP0000751_myopathy1.23145014
62MP0003137_abnormal_impulse_conducting1.23085204
63MP0004858_abnormal_nervous_system1.22670047
64MP0008961_abnormal_basal_metabolism1.22467811
65MP0003879_abnormal_hair_cell1.20705976
66MP0002229_neurodegeneration1.16619375
67MP0001485_abnormal_pinna_reflex1.15094919
68MP0004742_abnormal_vestibular_system1.14078667
69MP0001188_hyperpigmentation1.10507527
70MP0002102_abnormal_ear_morphology1.10260044
71MP0002234_abnormal_pharynx_morphology1.09420953
72MP0005195_abnormal_posterior_eye1.09371354
73MP0002837_dystrophic_cardiac_calcinosis1.08229130
74MP0003890_abnormal_embryonic-extraembry1.06626887
75MP0009780_abnormal_chondrocyte_physiolo1.04268305
76MP0004085_abnormal_heartbeat1.04035786
77MP0003861_abnormal_nervous_system1.01764705
78MP0004147_increased_porphyrin_level0.97208555
79MP0004215_abnormal_myocardial_fiber0.96355359
80MP0005187_abnormal_penis_morphology0.95646692
81MP0002069_abnormal_eating/drinking_beha0.94688832
82MP0000026_abnormal_inner_ear0.93800807
83MP0003123_paternal_imprinting0.93326460
84MP0002090_abnormal_vision0.91569703
85MP0003329_amyloid_beta_deposits0.88091200
86MP0005377_hearing/vestibular/ear_phenot0.87717170
87MP0003878_abnormal_ear_physiology0.87717170
88MP0001963_abnormal_hearing_physiology0.87664985
89MP0004233_abnormal_muscle_weight0.87372182
90MP0008872_abnormal_physiological_respon0.86497318
91MP0001177_atelectasis0.85504272
92MP0004133_heterotaxia0.84788137
93MP0003283_abnormal_digestive_organ0.84337035
94MP0001905_abnormal_dopamine_level0.83534791
95MP0001299_abnormal_eye_distance/0.78086485
96MP0003633_abnormal_nervous_system0.77590444
97MP0001986_abnormal_taste_sensitivity0.75415830
98MP0003631_nervous_system_phenotype0.74476781
99MP0000566_synostosis0.73053868
100MP0005248_abnormal_Harderian_gland0.72157608
101MP0003938_abnormal_ear_development0.71889676
102MP0000049_abnormal_middle_ear0.71075273
103MP0002928_abnormal_bile_duct0.70989480
104MP0003121_genomic_imprinting0.70560192
105MP0003136_yellow_coat_color0.68681624
106MP0003634_abnormal_glial_cell0.68520908
107MP0001348_abnormal_lacrimal_gland0.68286593
108MP0005391_vision/eye_phenotype0.68203455
109MP0003119_abnormal_digestive_system0.68115255
110MP0008995_early_reproductive_senescence0.66808574
111MP0010770_preweaning_lethality0.66440953
112MP0002082_postnatal_lethality0.66440953
113MP0010769_abnormal_survival0.65064730
114MP0003011_delayed_dark_adaptation0.65023049
115MP0003698_abnormal_male_reproductive0.64153243
116MP0003632_abnormal_nervous_system0.63729820
117MP0010768_mortality/aging0.62421501

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.42333287
2Congenital stationary night blindness (HP:0007642)4.75879839
3Epileptic encephalopathy (HP:0200134)4.48855379
4Focal seizures (HP:0007359)4.44571362
5Progressive cerebellar ataxia (HP:0002073)4.44412691
6Febrile seizures (HP:0002373)4.29622458
7Myokymia (HP:0002411)4.19319553
8Central scotoma (HP:0000603)3.93207055
9Visual hallucinations (HP:0002367)3.79917780
10Atonic seizures (HP:0010819)3.55960105
11Absence seizures (HP:0002121)3.43708760
12Abnormality of macular pigmentation (HP:0008002)3.39883269
13Broad-based gait (HP:0002136)3.38017480
14Hyperventilation (HP:0002883)3.28415330
15Genetic anticipation (HP:0003743)3.14999287
16Amblyopia (HP:0000646)3.11539085
17Dialeptic seizures (HP:0011146)3.09350523
18Pendular nystagmus (HP:0012043)3.05585582
19Decreased central vision (HP:0007663)3.02994457
20Absent rod-and cone-mediated responses on ERG (HP:0007688)3.02793842
21Severe visual impairment (HP:0001141)3.02367992
22Abnormal rod and cone electroretinograms (HP:0008323)3.01931015
23Agitation (HP:0000713)2.98071236
24Excessive salivation (HP:0003781)2.94116518
25Drooling (HP:0002307)2.94116518
26Bony spicule pigmentary retinopathy (HP:0007737)2.92338276
27Generalized tonic-clonic seizures (HP:0002069)2.89428720
28Scotoma (HP:0000575)2.77678279
29Gaze-evoked nystagmus (HP:0000640)2.75032991
30Action tremor (HP:0002345)2.73247025
31Epileptiform EEG discharges (HP:0011182)2.62214515
32Dysdiadochokinesis (HP:0002075)2.62020195
33Supranuclear gaze palsy (HP:0000605)2.61840029
34EEG with generalized epileptiform discharges (HP:0011198)2.57196700
35Truncal ataxia (HP:0002078)2.54765586
36Hemiparesis (HP:0001269)2.54009024
37Poor eye contact (HP:0000817)2.52649842
38Chorioretinal atrophy (HP:0000533)2.52126444
39Exotropia (HP:0000577)2.48598743
40Gait imbalance (HP:0002141)2.47909694
41Abolished electroretinogram (ERG) (HP:0000550)2.47780115
42Retinal dysplasia (HP:0007973)2.47611045
43Polyphagia (HP:0002591)2.45663694
44Hypsarrhythmia (HP:0002521)2.35060780
45Dyschromatopsia (HP:0007641)2.34369219
46Ankle clonus (HP:0011448)2.32484461
47Depression (HP:0000716)2.31368331
48Abnormal eating behavior (HP:0100738)2.30204161
49Mutism (HP:0002300)2.29543586
50Status epilepticus (HP:0002133)2.28744387
51Abnormal social behavior (HP:0012433)2.28743359
52Impaired social interactions (HP:0000735)2.28743359
53Impaired smooth pursuit (HP:0007772)2.27391527
54Pachygyria (HP:0001302)2.26580587
55Septo-optic dysplasia (HP:0100842)2.25526494
56Limb dystonia (HP:0002451)2.25173709
57Protruding tongue (HP:0010808)2.25117089
58Specific learning disability (HP:0001328)2.24788600
59Impaired vibration sensation in the lower limbs (HP:0002166)2.24749513
60Cerebral hypomyelination (HP:0006808)2.22467084
61Failure to thrive in infancy (HP:0001531)2.21916348
62Urinary bladder sphincter dysfunction (HP:0002839)2.21562689
63Absent speech (HP:0001344)2.20699535
64Morphological abnormality of the pyramidal tract (HP:0002062)2.18009410
65Progressive inability to walk (HP:0002505)2.15545501
66Megalencephaly (HP:0001355)2.14565239
67Increased corneal curvature (HP:0100692)2.13707498
68Keratoconus (HP:0000563)2.13707498
69Focal dystonia (HP:0004373)2.13500256
70Anxiety (HP:0000739)2.11158064
71Abnormality of the corticospinal tract (HP:0002492)2.10797473
72Dysmetria (HP:0001310)2.09833504
73Nephronophthisis (HP:0000090)2.07843339
74Molar tooth sign on MRI (HP:0002419)2.06055780
75Abnormality of midbrain morphology (HP:0002418)2.06055780
76Amyotrophic lateral sclerosis (HP:0007354)2.05601136
77Esotropia (HP:0000565)2.04433749
78Abnormality of the lower motor neuron (HP:0002366)2.01458382
79Spastic gait (HP:0002064)2.00478688
80Hypoplasia of the brainstem (HP:0002365)1.99733138
81Aplasia/Hypoplasia of the brainstem (HP:0007362)1.99733138
82Hemiplegia (HP:0002301)1.98909814
83Congenital primary aphakia (HP:0007707)1.98795219
84Abnormality of ocular smooth pursuit (HP:0000617)1.97925178
85Scanning speech (HP:0002168)1.97399021
86Type II diabetes mellitus (HP:0005978)1.94129796
87Medial flaring of the eyebrow (HP:0010747)1.93437829
88Stereotypic behavior (HP:0000733)1.92377254
89Nephrogenic diabetes insipidus (HP:0009806)1.91708385
90Spastic tetraplegia (HP:0002510)1.91280643
91Pancreatic fibrosis (HP:0100732)1.90590140
92Inability to walk (HP:0002540)1.89051086
93True hermaphroditism (HP:0010459)1.87767187
94Aqueductal stenosis (HP:0002410)1.87602916
95Type II lissencephaly (HP:0007260)1.87356822
96Prolonged QT interval (HP:0001657)1.86964032
97Abnormality of salivation (HP:0100755)1.86875792
98Genital tract atresia (HP:0001827)1.86642773
99Oligodactyly (hands) (HP:0001180)1.85417710
100Urinary urgency (HP:0000012)1.85258060
101Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.85203904
102Degeneration of the lateral corticospinal tracts (HP:0002314)1.85203904
103Sleep apnea (HP:0010535)1.85087742
104Vaginal atresia (HP:0000148)1.84718518
105Spastic tetraparesis (HP:0001285)1.84277703
106Optic nerve hypoplasia (HP:0000609)1.83990639
107Abnormal EKG (HP:0003115)1.83055221
108Hepatoblastoma (HP:0002884)1.82964135
109Chronic hepatic failure (HP:0100626)1.82671556
110Hypoventilation (HP:0002791)1.81798393
111CNS hypomyelination (HP:0003429)1.81260293
112Craniofacial dystonia (HP:0012179)1.81037788
113Pancreatic cysts (HP:0001737)1.78629490
114Hypoplasia of the corpus callosum (HP:0002079)1.77891494
115Neurofibrillary tangles (HP:0002185)1.77531854
116Attenuation of retinal blood vessels (HP:0007843)1.76204162
117Dysmetric saccades (HP:0000641)1.76039556
118Abnormality of the labia minora (HP:0012880)1.75723229
119Postural instability (HP:0002172)1.75538638
120Autism (HP:0000717)1.75513138
121Lissencephaly (HP:0001339)1.74411607
122Lower limb muscle weakness (HP:0007340)1.73802439
123Anosmia (HP:0000458)1.73733078
124Pheochromocytoma (HP:0002666)1.72955365
125Impaired vibratory sensation (HP:0002495)1.72474611
126Torticollis (HP:0000473)1.71934176
127Intellectual disability, severe (HP:0010864)1.71705214
128Short 4th metacarpal (HP:0010044)1.71602164
129Incomplete penetrance (HP:0003829)1.68384752
130Abnormality of binocular vision (HP:0011514)1.68237825
131Diplopia (HP:0000651)1.68237825

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.70555420
2NTRK33.58849729
3MAP3K93.20600972
4NTRK23.10290235
5MAP3K42.85684367
6EPHA42.55461299
7MAP2K72.52309275
8MINK12.36706721
9CASK2.18888807
10PAK62.01662860
11KSR11.99247947
12MAPK131.94923068
13PNCK1.87525463
14FRK1.77146665
15TNIK1.76175183
16MAP2K41.73554873
17SIK21.72779406
18DAPK21.65637198
19FGFR21.64053901
20PHKG21.59539168
21PHKG11.59539168
22UHMK11.53045639
23EPHB21.37834536
24TYRO31.37493972
25PRPF4B1.34030862
26ICK1.33039236
27SIK31.31080264
28CDK51.30569447
29CDK191.28111335
30CAMK1G1.26768672
31BRD41.23298964
32ERBB31.23184423
33ADRBK21.16885514
34PRKCG1.15371103
35SGK4941.14745198
36SGK2231.14745198
37DYRK1A1.13506953
38STK381.12606161
39DYRK21.10567815
40PLK21.10553059
41MARK21.06095174
42WNK31.04699696
43INSRR1.03552974
44PRKD30.98811541
45CCNB10.93487466
46PAK30.93211197
47CAMK2A0.92667189
48BCR0.91887190
49GRK50.90390753
50MAP4K20.88650351
51CDC42BPA0.88604359
52MAP3K120.88504336
53SGK20.88436580
54CSNK1G20.87288184
55CDK180.87027640
56CAMK10.87001370
57CAMKK10.80809111
58CDK150.79884289
59DAPK10.79189483
60TRIM280.76954141
61PINK10.76793066
62CAMK40.75550463
63CAMK2B0.75030538
64BMPR1B0.73314377
65PRKCZ0.73199200
66CDK140.73042603
67NTRK10.70721022
68NEK60.70597434
69CDK11A0.69350552
70IRAK20.68236436
71RET0.65945027
72STK110.65776865
73FES0.65607162
74LATS20.65200668
75AKT30.64828124
76SGK10.64181028
77PKN10.64027292
78PRKCE0.63596373
79DYRK1B0.62808378
80WNK40.60003161
81CAMK2D0.59140140
82KSR20.57756217
83GRK10.57534676
84MAP3K130.53980932
85ERBB20.53394293
86WNK10.51030059
87CSNK1G10.50905815
88MAP3K60.49824593
89CAMKK20.49558700
90NEK10.49521318
91OXSR10.49130930
92SGK30.48908448
93CSNK1D0.47247332
94ADRBK10.46497897
95PRKCH0.45869863
96PRKACA0.44387039
97FER0.44106161
98RPS6KA30.43154032
99MKNK20.43010515
100DDR20.41985049
101RPS6KA20.41236037
102CAMK1D0.40975346
103MAPK80.40566359
104PRKAA10.40054735
105CSNK1E0.39679348
106PRKCB0.39489304
107CSNK1A10.39486446
108CSNK1G30.39483345
109ROCK20.39243940
110CAMK2G0.39138560
111NME10.39004123
112MAP3K70.38757203
113GSK3B0.38545140
114CSNK1A1L0.37661656
115CDK30.37661374
116ROCK10.37334495
117PRKG10.37041835
118MAPK150.33029559
119MAPK120.31504949
120PRKCA0.31493416
121MAPK100.30306096

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.17059128
2Synaptic vesicle cycle_Homo sapiens_hsa047213.27563888
3Phototransduction_Homo sapiens_hsa047443.01983963
4GABAergic synapse_Homo sapiens_hsa047272.93654986
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.90350275
6Circadian entrainment_Homo sapiens_hsa047132.71095670
7Glutamatergic synapse_Homo sapiens_hsa047242.63943566
8Olfactory transduction_Homo sapiens_hsa047402.63222263
9Morphine addiction_Homo sapiens_hsa050322.58809215
10Long-term potentiation_Homo sapiens_hsa047202.14559275
11Dopaminergic synapse_Homo sapiens_hsa047282.13763766
12Taste transduction_Homo sapiens_hsa047422.07592295
13Insulin secretion_Homo sapiens_hsa049112.04224971
14Amphetamine addiction_Homo sapiens_hsa050311.96975120
15Cholinergic synapse_Homo sapiens_hsa047251.95320931
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.92007585
17Salivary secretion_Homo sapiens_hsa049701.87125579
18Serotonergic synapse_Homo sapiens_hsa047261.77586942
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68598291
20Axon guidance_Homo sapiens_hsa043601.63807867
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.62603946
22Oxytocin signaling pathway_Homo sapiens_hsa049211.55496504
23Long-term depression_Homo sapiens_hsa047301.55185274
24Cocaine addiction_Homo sapiens_hsa050301.49873512
25Renin secretion_Homo sapiens_hsa049241.49338408
26Calcium signaling pathway_Homo sapiens_hsa040201.48031343
27Gastric acid secretion_Homo sapiens_hsa049711.46538054
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.38462921
29Cardiac muscle contraction_Homo sapiens_hsa042601.37239092
30Collecting duct acid secretion_Homo sapiens_hsa049661.31862987
31Type II diabetes mellitus_Homo sapiens_hsa049301.31574369
32Gap junction_Homo sapiens_hsa045401.27243565
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22560783
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20802671
35cAMP signaling pathway_Homo sapiens_hsa040241.17656161
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.16055033
37GnRH signaling pathway_Homo sapiens_hsa049121.14674529
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12439960
39ErbB signaling pathway_Homo sapiens_hsa040121.09116405
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06052575
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.04310663
42Dilated cardiomyopathy_Homo sapiens_hsa054141.03703239
43Circadian rhythm_Homo sapiens_hsa047101.03575822
44Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.92383968
45Melanogenesis_Homo sapiens_hsa049160.91885183
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.91760463
47Estrogen signaling pathway_Homo sapiens_hsa049150.91752885
48Glioma_Homo sapiens_hsa052140.87755290
49Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.85778214
50Vibrio cholerae infection_Homo sapiens_hsa051100.84459659
51Parkinsons disease_Homo sapiens_hsa050120.82071697
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.78132210
53Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.74215158
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70799272
55Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70459125
56Fatty acid biosynthesis_Homo sapiens_hsa000610.69655056
57MAPK signaling pathway_Homo sapiens_hsa040100.69441533
58Pancreatic secretion_Homo sapiens_hsa049720.66865719
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.66047535
60Oocyte meiosis_Homo sapiens_hsa041140.65966155
61Choline metabolism in cancer_Homo sapiens_hsa052310.65628081
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.65159849
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64954515
64Wnt signaling pathway_Homo sapiens_hsa043100.63323815
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63080642
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62660205
67Ether lipid metabolism_Homo sapiens_hsa005650.58819422
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57221923
69Glucagon signaling pathway_Homo sapiens_hsa049220.56806601
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56696213
71mTOR signaling pathway_Homo sapiens_hsa041500.55657063
72Nitrogen metabolism_Homo sapiens_hsa009100.54995001
73Renal cell carcinoma_Homo sapiens_hsa052110.54640009
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.53448689
75Ras signaling pathway_Homo sapiens_hsa040140.53179862
76Linoleic acid metabolism_Homo sapiens_hsa005910.53039350
77Inositol phosphate metabolism_Homo sapiens_hsa005620.53029531
78Endometrial cancer_Homo sapiens_hsa052130.52082516
79Notch signaling pathway_Homo sapiens_hsa043300.50834716
80Thyroid hormone synthesis_Homo sapiens_hsa049180.50432727
81Colorectal cancer_Homo sapiens_hsa052100.48709939
82Alcoholism_Homo sapiens_hsa050340.48341849
83alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.48326912
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.46966093
85VEGF signaling pathway_Homo sapiens_hsa043700.46408522
86Hippo signaling pathway_Homo sapiens_hsa043900.46239936
87Huntingtons disease_Homo sapiens_hsa050160.45961943
88Basal cell carcinoma_Homo sapiens_hsa052170.44435638
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44332003
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43430263
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43328386
92ABC transporters_Homo sapiens_hsa020100.42476803
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41328267
94Insulin signaling pathway_Homo sapiens_hsa049100.41040845
95Butanoate metabolism_Homo sapiens_hsa006500.40632625
96Dorso-ventral axis formation_Homo sapiens_hsa043200.40356744
97Rap1 signaling pathway_Homo sapiens_hsa040150.40173396
98Alzheimers disease_Homo sapiens_hsa050100.39820772
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39743344
100Bile secretion_Homo sapiens_hsa049760.38477277
101Hedgehog signaling pathway_Homo sapiens_hsa043400.37999282
102Maturity onset diabetes of the young_Homo sapiens_hsa049500.37099593
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34981522
104Ovarian steroidogenesis_Homo sapiens_hsa049130.33524434
105Prion diseases_Homo sapiens_hsa050200.29535503
106Non-small cell lung cancer_Homo sapiens_hsa052230.29522805
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28586075
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27739577
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.27655505
110Regulation of autophagy_Homo sapiens_hsa041400.27084498
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.26425618
112Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.26325437
113Tight junction_Homo sapiens_hsa045300.26251902
114Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26111228
115Oxidative phosphorylation_Homo sapiens_hsa001900.24465570
116Melanoma_Homo sapiens_hsa052180.24228638
117Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.23970612
118Tryptophan metabolism_Homo sapiens_hsa003800.20145823

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