KIRREL3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced 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
1protein localization to synapse (GO:0035418)5.85243167
2exploration behavior (GO:0035640)5.41206126
3synaptic vesicle exocytosis (GO:0016079)5.40173526
4vocalization behavior (GO:0071625)5.32420358
5neuron cell-cell adhesion (GO:0007158)5.13626724
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.09464200
7locomotory exploration behavior (GO:0035641)4.90240954
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.86751204
9regulation of short-term neuronal synaptic plasticity (GO:0048172)4.86566114
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.68639576
11gamma-aminobutyric acid signaling pathway (GO:0007214)4.67211791
12behavioral response to nicotine (GO:0035095)4.49917052
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.46112909
14synaptic vesicle maturation (GO:0016188)4.41991783
15gamma-aminobutyric acid transport (GO:0015812)4.39640888
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.34709988
17response to pheromone (GO:0019236)4.30358508
18glutamate receptor signaling pathway (GO:0007215)4.20103611
19synaptic vesicle endocytosis (GO:0048488)4.11594764
20regulation of synaptic vesicle exocytosis (GO:2000300)4.07472674
21G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.06657342
22synaptic transmission, glutamatergic (GO:0035249)4.04883985
23cellular potassium ion homeostasis (GO:0030007)4.04341087
24glutamate secretion (GO:0014047)4.00118049
25neuronal action potential propagation (GO:0019227)3.98940854
26regulation of glutamate receptor signaling pathway (GO:1900449)3.97925395
27sodium ion export (GO:0071436)3.83819777
28neuron-neuron synaptic transmission (GO:0007270)3.83343468
29transmission of nerve impulse (GO:0019226)3.79031415
30positive regulation of synapse maturation (GO:0090129)3.78414033
31regulation of synapse structural plasticity (GO:0051823)3.77954794
32neurotransmitter secretion (GO:0007269)3.71594206
33cerebellar granule cell differentiation (GO:0021707)3.71404355
34long-term synaptic potentiation (GO:0060291)3.69416324
35regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.67585408
36presynaptic membrane assembly (GO:0097105)3.65743529
37dendritic spine morphogenesis (GO:0060997)3.60410491
38layer formation in cerebral cortex (GO:0021819)3.58348624
39dendrite morphogenesis (GO:0048813)3.56407801
40regulation of synaptic vesicle transport (GO:1902803)3.55316964
41neuromuscular synaptic transmission (GO:0007274)3.53929653
42central nervous system myelination (GO:0022010)3.51698452
43axon ensheathment in central nervous system (GO:0032291)3.51698452
44L-amino acid import (GO:0043092)3.51605536
45regulation of long-term neuronal synaptic plasticity (GO:0048169)3.46550506
46presynaptic membrane organization (GO:0097090)3.42309788
47regulation of neuronal synaptic plasticity (GO:0048168)3.39484629
48regulation of voltage-gated calcium channel activity (GO:1901385)3.36547921
49startle response (GO:0001964)3.35266922
50pyrimidine nucleobase catabolic process (GO:0006208)3.35061864
51neuron recognition (GO:0008038)3.34953510
52C4-dicarboxylate transport (GO:0015740)3.34735713
53response to gravity (GO:0009629)3.34724180
54positive regulation of membrane potential (GO:0045838)3.31809378
55postsynaptic membrane organization (GO:0001941)3.31674935
56membrane hyperpolarization (GO:0060081)3.30617910
57long-term memory (GO:0007616)3.29647891
58regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.29276109
59neurotransmitter-gated ion channel clustering (GO:0072578)3.28769288
60cell communication by electrical coupling (GO:0010644)3.26443648
61synapse assembly (GO:0007416)3.25676983
62regulation of excitatory postsynaptic membrane potential (GO:0060079)3.25647227
63cell migration in hindbrain (GO:0021535)3.23630977
64acidic amino acid transport (GO:0015800)3.21595645
65membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.19710075
66synapse organization (GO:0050808)3.18665128
67neuroblast proliferation (GO:0007405)3.17416274
68neurotransmitter transport (GO:0006836)3.16730846
69negative regulation of synaptic transmission, GABAergic (GO:0032229)3.15141943
70cerebellar Purkinje cell differentiation (GO:0021702)3.14759867
71alanine transport (GO:0032328)3.14741941
72negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.14477386
73regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.14007195
74neuronal ion channel clustering (GO:0045161)3.12989696
75cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.12258027
76amino acid import (GO:0043090)3.11430311
77regulation of synaptic transmission, glutamatergic (GO:0051966)3.10683358
78regulation of postsynaptic membrane potential (GO:0060078)3.10094486
79regulation of neurotransmitter secretion (GO:0046928)3.09925891
80adult walking behavior (GO:0007628)3.09641659
81serotonin metabolic process (GO:0042428)3.09354821
82axonal fasciculation (GO:0007413)3.09259470
83proline transport (GO:0015824)3.09045422
84potassium ion homeostasis (GO:0055075)3.07493709
85regulation of dendritic spine morphogenesis (GO:0061001)3.06458366
86auditory behavior (GO:0031223)3.06446460
87establishment of synaptic vesicle localization (GO:0097480)3.06108904
88synaptic vesicle transport (GO:0048489)3.06108904
89regulation of synapse maturation (GO:0090128)3.05851107
90positive regulation of synaptic transmission, GABAergic (GO:0032230)3.05786843
91regulation of vesicle fusion (GO:0031338)3.05263343
92retinal cone cell development (GO:0046549)3.04132045
93primary amino compound metabolic process (GO:1901160)3.02639052
94response to auditory stimulus (GO:0010996)3.02479054
95L-glutamate transport (GO:0015813)3.02189940
96positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.01915000
97regulation of synaptic plasticity (GO:0048167)3.01034646
98positive regulation of synapse assembly (GO:0051965)3.00165326
99membrane depolarization (GO:0051899)2.99525089
100innervation (GO:0060384)2.99430630
101potassium ion import (GO:0010107)2.96021909
102neuromuscular process controlling balance (GO:0050885)2.94906491
103prepulse inhibition (GO:0060134)2.93782451
104learning (GO:0007612)2.93538006
105central nervous system projection neuron axonogenesis (GO:0021952)2.93510870
106positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.93017577
107regulation of neurotransmitter uptake (GO:0051580)2.92064772
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.92001108
109nucleobase catabolic process (GO:0046113)2.91792021
110regulation of neurotransmitter levels (GO:0001505)2.91530415
111membrane depolarization during action potential (GO:0086010)2.91459342
112neuronal action potential (GO:0019228)2.88167435
113regulation of neurotransmitter transport (GO:0051588)2.86788832
114urinary tract smooth muscle contraction (GO:0014848)2.83934895
115synaptic transmission (GO:0007268)2.82097445
116protein polyglutamylation (GO:0018095)2.79062376
117negative regulation of axon extension (GO:0030517)2.77168470
118positive regulation of dendritic spine development (GO:0060999)2.74544286
119cyclic nucleotide catabolic process (GO:0009214)2.74144216
120nephron epithelium morphogenesis (GO:0072088)2.71294462
121nephron tubule morphogenesis (GO:0072078)2.71294462
122protein import into peroxisome matrix (GO:0016558)2.71046041
123calcium ion-dependent exocytosis (GO:0017156)2.69969752
124positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.69305389
125regulation of synapse assembly (GO:0051963)2.68425485
126adult behavior (GO:0030534)2.64933774
127detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.62899708
128regulation of respiratory system process (GO:0044065)2.62637258
129cochlea development (GO:0090102)2.62480568
130cAMP catabolic process (GO:0006198)2.61533374
131potassium ion transmembrane transport (GO:0071805)2.60896954
132cellular potassium ion transport (GO:0071804)2.60896954
133glycosphingolipid biosynthetic process (GO:0006688)2.57715141

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.83341026
2GBX2_23144817_ChIP-Seq_PC3_Human3.53095087
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08535756
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06881868
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.90660354
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.72375458
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.68894005
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.68894005
9DROSHA_22980978_ChIP-Seq_HELA_Human2.66222210
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.64975942
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62529596
12* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.62043348
13REST_21632747_ChIP-Seq_MESCs_Mouse2.60413260
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51557888
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.50799087
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48138081
17* EZH2_27294783_Chip-Seq_ESCs_Mouse2.45498753
18* EED_16625203_ChIP-ChIP_MESCs_Mouse2.39860903
19* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.39158598
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29260563
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.25938647
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.15412367
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.12185598
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.11314315
25* REST_18959480_ChIP-ChIP_MESCs_Mouse2.05839272
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90372817
27AR_21572438_ChIP-Seq_LNCaP_Human1.87370046
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81212419
29* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80368568
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67427366
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67172286
32* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64200835
33TAF15_26573619_Chip-Seq_HEK293_Human1.63738752
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62172315
35* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60396118
36VDR_22108803_ChIP-Seq_LS180_Human1.60046584
37* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.59513274
38SMAD_19615063_ChIP-ChIP_OVARY_Human1.57278514
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.53374986
40SMAD4_21799915_ChIP-Seq_A2780_Human1.52978925
41* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52895120
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50503134
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.44602878
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.42770077
45* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41309331
46BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40864863
47VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.40384935
48* SMAD3_21741376_ChIP-Seq_EPCs_Human1.39205874
49RING1B_27294783_Chip-Seq_ESCs_Mouse1.38661860
50P53_22127205_ChIP-Seq_FIBROBLAST_Human1.38452350
51P300_19829295_ChIP-Seq_ESCs_Human1.35446331
52ZNF274_21170338_ChIP-Seq_K562_Hela1.34434911
53CDX2_19796622_ChIP-Seq_MESCs_Mouse1.29897620
54* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28840381
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.26968059
56* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26963823
57MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.24387978
58* PIAS1_25552417_ChIP-Seq_VCAP_Human1.24160322
59PCGF2_27294783_Chip-Seq_ESCs_Mouse1.23884010
60* RNF2_27304074_Chip-Seq_NSC_Mouse1.23313247
61* AR_19668381_ChIP-Seq_PC3_Human1.22683301
62* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22099347
63* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22057656
64RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.20395573
65AR_25329375_ChIP-Seq_VCAP_Human1.17907650
66IGF1R_20145208_ChIP-Seq_DFB_Human1.16870829
67* STAT3_23295773_ChIP-Seq_U87_Human1.16331783
68* RING1B_27294783_Chip-Seq_NPCs_Mouse1.15949636
69* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14557012
70MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.12555707
71POU3F2_20337985_ChIP-ChIP_501MEL_Human1.09313759
72CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09299889
73MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08627668
74RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08553703
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07075844
76* TCF4_23295773_ChIP-Seq_U87_Human1.06364914
77* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05832734
78AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04622566
79TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04299245
80POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04299245
81BCAT_22108803_ChIP-Seq_LS180_Human1.03816598
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03759424
83PCGF2_27294783_Chip-Seq_NPCs_Mouse1.03624651
84TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02878324
85* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02657541
86NR3C1_23031785_ChIP-Seq_PC12_Mouse1.01856484
87ARNT_22903824_ChIP-Seq_MCF-7_Human1.01771196
88TP53_16413492_ChIP-PET_HCT116_Human1.00957869
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.99872242
90AHR_22903824_ChIP-Seq_MCF-7_Human0.99179970
91DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98352515
92RUNX2_22187159_ChIP-Seq_PCA_Human0.97049081
93FUS_26573619_Chip-Seq_HEK293_Human0.96671598
94ER_23166858_ChIP-Seq_MCF-7_Human0.96403923
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96113082
96* PRDM14_20953172_ChIP-Seq_ESCs_Human0.95108005
97TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94976159
98EWS_26573619_Chip-Seq_HEK293_Human0.94831694
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94704852
100CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94473632
101TP53_20018659_ChIP-ChIP_R1E_Mouse0.93529639
102TP53_22573176_ChIP-Seq_HFKS_Human0.92638183
103* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92558456
104LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92503576
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.91960196
106NANOG_18555785_Chip-Seq_ESCs_Mouse0.91942105
107* SOX2_19829295_ChIP-Seq_ESCs_Human0.91327768
108* NANOG_19829295_ChIP-Seq_ESCs_Human0.91327768
109ETV2_25802403_ChIP-Seq_MESCs_Mouse0.90991080
110* KDM2B_26808549_Chip-Seq_REH_Human0.90255392
111CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89692956
112SMAD4_21741376_ChIP-Seq_EPCs_Human0.89533807
113IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.89087542
114CBP_20019798_ChIP-Seq_JUKART_Human0.89087542
115TP53_18474530_ChIP-ChIP_U2OS_Human0.89007974
116FLI1_21867929_ChIP-Seq_TH2_Mouse0.88379456
117TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.88238421
118* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.88090451
119JUN_21703547_ChIP-Seq_K562_Human0.87257776
120SOX9_26525672_Chip-Seq_HEART_Mouse0.85324989

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.13697259
2MP0003880_abnormal_central_pattern4.22258504
3MP0003635_abnormal_synaptic_transmissio3.66981325
4MP0004270_analgesia3.43042083
5MP0009046_muscle_twitch3.25659841
6MP0001486_abnormal_startle_reflex3.18104891
7MP0009745_abnormal_behavioral_response3.17153855
8MP0002064_seizures3.09131868
9MP0002063_abnormal_learning/memory/cond2.88568173
10MP0005423_abnormal_somatic_nervous2.81046391
11MP0001968_abnormal_touch/_nociception2.64297432
12MP0002572_abnormal_emotion/affect_behav2.61225022
13MP0002272_abnormal_nervous_system2.59007002
14MP0002734_abnormal_mechanical_nocicepti2.51088051
15MP0001984_abnormal_olfaction2.32453867
16MP0002736_abnormal_nociception_after2.28549928
17MP0000778_abnormal_nervous_system2.21475362
18MP0003283_abnormal_digestive_organ2.20829087
19MP0001440_abnormal_grooming_behavior2.18062119
20MP0004885_abnormal_endolymph2.09024180
21MP0002067_abnormal_sensory_capabilities2.08888876
22MP0008569_lethality_at_weaning1.93643068
23MP0002102_abnormal_ear_morphology1.92821842
24MP0005551_abnormal_eye_electrophysiolog1.91905069
25MP0002735_abnormal_chemical_nociception1.88669704
26MP0009780_abnormal_chondrocyte_physiolo1.88336994
27MP0003329_amyloid_beta_deposits1.87101223
28MP0001529_abnormal_vocalization1.86846226
29MP0002184_abnormal_innervation1.86308104
30MP0010386_abnormal_urinary_bladder1.84835402
31MP0001970_abnormal_pain_threshold1.80553879
32MP0004142_abnormal_muscle_tone1.77819378
33MP0001502_abnormal_circadian_rhythm1.77818876
34MP0002733_abnormal_thermal_nociception1.76144923
35MP0001501_abnormal_sleep_pattern1.74690437
36MP0002557_abnormal_social/conspecific_i1.74667612
37MP0002822_catalepsy1.71779709
38MP0008877_abnormal_DNA_methylation1.70849797
39MP0000920_abnormal_myelination1.69021895
40MP0005386_behavior/neurological_phenoty1.65282140
41MP0004924_abnormal_behavior1.65282140
42MP0005171_absent_coat_pigmentation1.60147440
43MP0000955_abnormal_spinal_cord1.59054897
44MP0002882_abnormal_neuron_morphology1.58842941
45MP0003137_abnormal_impulse_conducting1.53311724
46MP0002638_abnormal_pupillary_reflex1.51629680
47MP0003136_yellow_coat_color1.50161150
48MP0003690_abnormal_glial_cell1.49292930
49MP0004742_abnormal_vestibular_system1.48317243
50MP0002066_abnormal_motor_capabilities/c1.47844611
51MP0003634_abnormal_glial_cell1.45074594
52MP0001485_abnormal_pinna_reflex1.44456584
53MP0004811_abnormal_neuron_physiology1.37238262
54MP0002876_abnormal_thyroid_physiology1.36258781
55MP0004858_abnormal_nervous_system1.35971651
56MP0003879_abnormal_hair_cell1.34652478
57MP0006276_abnormal_autonomic_nervous1.33379387
58MP0002090_abnormal_vision1.30050528
59MP0002152_abnormal_brain_morphology1.27730943
60MP0002229_neurodegeneration1.26378608
61MP0001905_abnormal_dopamine_level1.24624099
62MP0000631_abnormal_neuroendocrine_gland1.23159285
63MP0005503_abnormal_tendon_morphology1.20552334
64MP0004145_abnormal_muscle_electrophysio1.18957431
65MP0004215_abnormal_myocardial_fiber1.18545477
66MP0005499_abnormal_olfactory_system1.17487855
67MP0005394_taste/olfaction_phenotype1.17487855
68MP0002752_abnormal_somatic_nervous1.15233780
69MP0003633_abnormal_nervous_system1.12520681
70MP0005646_abnormal_pituitary_gland1.11655609
71MP0003632_abnormal_nervous_system1.09321102
72MP0008872_abnormal_physiological_respon1.09308590
73MP0003631_nervous_system_phenotype1.08863069
74MP0001963_abnormal_hearing_physiology1.06760877
75MP0002837_dystrophic_cardiac_calcinosis1.06733303
76MP0005084_abnormal_gallbladder_morpholo1.06711465
77MP0004133_heterotaxia1.05282726
78MP0002928_abnormal_bile_duct1.03545198
79MP0002069_abnormal_eating/drinking_beha1.03038516
80MP0001958_emphysema0.96970424
81MP0006072_abnormal_retinal_apoptosis0.95793607
82MP0005409_darkened_coat_color0.95730525
83MP0002909_abnormal_adrenal_gland0.94612926
84MP0002653_abnormal_ependyma_morphology0.88536923
85MP0006292_abnormal_olfactory_placode0.87887748
86MP0005645_abnormal_hypothalamus_physiol0.87346467
87MP0001188_hyperpigmentation0.87053511
88MP0005195_abnormal_posterior_eye0.85741744
89MP0009384_cardiac_valve_regurgitation0.85019872
90MP0001177_atelectasis0.83303963
91MP0002751_abnormal_autonomic_nervous0.81382254
92MP0005253_abnormal_eye_physiology0.80891098
93MP0000026_abnormal_inner_ear0.79154442
94MP0000751_myopathy0.77002682
95MP0004043_abnormal_pH_regulation0.75549780
96MP0001299_abnormal_eye_distance/0.74700919
97MP0000604_amyloidosis0.74085676
98MP0008789_abnormal_olfactory_epithelium0.73171842
99MP0004085_abnormal_heartbeat0.71945772
100MP0000427_abnormal_hair_cycle0.71338131
101MP0003787_abnormal_imprinting0.70432153
102MP0003861_abnormal_nervous_system0.69573992
103MP0003122_maternal_imprinting0.67983280
104MP0004233_abnormal_muscle_weight0.66914236
105MP0000534_abnormal_ureter_morphology0.66874830
106MP0000230_abnormal_systemic_arterial0.65346862
107MP0002938_white_spotting0.64789949
108MP0005410_abnormal_fertilization0.64587187
109MP0000049_abnormal_middle_ear0.64277021
110MP0000538_abnormal_urinary_bladder0.63974181
111MP0010769_abnormal_survival0.63902335
112MP0003195_calcinosis0.63208232
113MP0002082_postnatal_lethality0.62433883
114MP0010770_preweaning_lethality0.62433883
115MP0005595_abnormal_vascular_smooth0.60683930
116MP0004782_abnormal_surfactant_physiolog0.60376332
117MP0010768_mortality/aging0.59882852
118MP0008874_decreased_physiological_sensi0.58235637
119MP0001986_abnormal_taste_sensitivity0.57599897
120MP0002089_abnormal_postnatal_growth/wei0.55747555
121MP0000462_abnormal_digestive_system0.55575164
122MP0005623_abnormal_meninges_morphology0.54274092
123MP0001664_abnormal_digestion0.54085055
124MP0000569_abnormal_digit_pigmentation0.54048854

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.34355599
2Myokymia (HP:0002411)5.95926149
3Visual hallucinations (HP:0002367)5.17918806
4Focal seizures (HP:0007359)4.89809100
5Progressive cerebellar ataxia (HP:0002073)4.82765420
6Febrile seizures (HP:0002373)4.61005255
7Epileptic encephalopathy (HP:0200134)4.49276162
8Action tremor (HP:0002345)4.34403202
9Atonic seizures (HP:0010819)4.06725637
10Absence seizures (HP:0002121)4.03878506
11Septo-optic dysplasia (HP:0100842)3.89502845
12Type II lissencephaly (HP:0007260)3.70923096
13Dialeptic seizures (HP:0011146)3.63451080
14Neurofibrillary tangles (HP:0002185)3.57991407
15Dysdiadochokinesis (HP:0002075)3.42261248
16Ankle clonus (HP:0011448)3.35034039
17Supranuclear gaze palsy (HP:0000605)3.34353595
18Dysmetria (HP:0001310)3.26920969
19Gaze-evoked nystagmus (HP:0000640)3.26283000
20Scanning speech (HP:0002168)3.04157282
21Mutism (HP:0002300)3.00105746
22Molar tooth sign on MRI (HP:0002419)2.98732021
23Abnormality of midbrain morphology (HP:0002418)2.98732021
24Generalized tonic-clonic seizures (HP:0002069)2.98629167
25Spastic gait (HP:0002064)2.93544159
26Cerebral inclusion bodies (HP:0100314)2.91573664
27Hemiparesis (HP:0001269)2.88749844
28True hermaphroditism (HP:0010459)2.88544229
29Broad-based gait (HP:0002136)2.80196275
30Hemiplegia (HP:0002301)2.79551470
31Depression (HP:0000716)2.79048290
32Abnormality of the corticospinal tract (HP:0002492)2.77493073
33Truncal ataxia (HP:0002078)2.77003184
34Absent septum pellucidum (HP:0001331)2.72940518
35Megalencephaly (HP:0001355)2.71741603
36Nephronophthisis (HP:0000090)2.68907510
37Pancreatic fibrosis (HP:0100732)2.66109636
38Abnormal eating behavior (HP:0100738)2.64217876
39Congenital stationary night blindness (HP:0007642)2.63503230
40Central scotoma (HP:0000603)2.62699184
41Intention tremor (HP:0002080)2.58663597
42Pancreatic cysts (HP:0001737)2.56520430
43Urinary bladder sphincter dysfunction (HP:0002839)2.54694478
44Cerebellar dysplasia (HP:0007033)2.53357519
45Postural instability (HP:0002172)2.48957657
46Impaired vibration sensation in the lower limbs (HP:0002166)2.48830568
47Aplasia involving bones of the upper limbs (HP:0009823)2.44276360
48Aplasia of the phalanges of the hand (HP:0009802)2.44276360
49Aplasia involving bones of the extremities (HP:0009825)2.44276360
50Excessive salivation (HP:0003781)2.43910937
51Drooling (HP:0002307)2.43910937
52Polyphagia (HP:0002591)2.43768184
53Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.42324010
54Degeneration of the lateral corticospinal tracts (HP:0002314)2.42324010
55Fetal akinesia sequence (HP:0001989)2.42036350
56Medial flaring of the eyebrow (HP:0010747)2.41811711
57Anxiety (HP:0000739)2.40639786
58Lissencephaly (HP:0001339)2.38204991
59Abnormality of macular pigmentation (HP:0008002)2.36894135
60Cerebral hypomyelination (HP:0006808)2.36173446
61Genetic anticipation (HP:0003743)2.33431718
62Increased corneal curvature (HP:0100692)2.32860959
63Keratoconus (HP:0000563)2.32860959
64Hyperventilation (HP:0002883)2.32401300
65Large for gestational age (HP:0001520)2.32366757
66Poor eye contact (HP:0000817)2.30163218
67Polydipsia (HP:0001959)2.28224313
68Abnormal drinking behavior (HP:0030082)2.28224313
69Inability to walk (HP:0002540)2.26436595
70Abnormality of the septum pellucidum (HP:0007375)2.25727810
71Gait imbalance (HP:0002141)2.24490164
72Abnormal social behavior (HP:0012433)2.23083378
73Impaired social interactions (HP:0000735)2.23083378
74Pheochromocytoma (HP:0002666)2.18512504
75Optic nerve hypoplasia (HP:0000609)2.17961865
76Blue irides (HP:0000635)2.16480437
77Abnormality of the renal medulla (HP:0100957)2.14922146
78Torticollis (HP:0000473)2.13420216
79Lower limb muscle weakness (HP:0007340)2.06310416
80Growth hormone deficiency (HP:0000824)2.04219210
81Abnormality of the lower motor neuron (HP:0002366)2.03790049
82Hypoventilation (HP:0002791)2.03589061
83Diplopia (HP:0000651)2.01467502
84Abnormality of binocular vision (HP:0011514)2.01467502
85Thyroid-stimulating hormone excess (HP:0002925)2.01237971
86Clonus (HP:0002169)1.99814897
87Urinary urgency (HP:0000012)1.99789699
88Attenuation of retinal blood vessels (HP:0007843)1.97237504
89Generalized myoclonic seizures (HP:0002123)1.96762951
90Retinal dysplasia (HP:0007973)1.94967199
91Alacrima (HP:0000522)1.94037819
92Cystic liver disease (HP:0006706)1.93840260
93Decreased central vision (HP:0007663)1.93637406
94Termporal pattern (HP:0011008)1.93606400
95Insidious onset (HP:0003587)1.93606400
96Limb dystonia (HP:0002451)1.91965859
97Specific learning disability (HP:0001328)1.91513032
98Pachygyria (HP:0001302)1.91004722
99Sleep apnea (HP:0010535)1.88029395
100Severe muscular hypotonia (HP:0006829)1.86286202
101Congenital primary aphakia (HP:0007707)1.86271023
102Abnormality of the sella turcica (HP:0002679)1.85995865
103Morphological abnormality of the pyramidal tract (HP:0002062)1.85953064
104Narrow nasal bridge (HP:0000446)1.85805674
105Decreased lacrimation (HP:0000633)1.85149401
106Neuroendocrine neoplasm (HP:0100634)1.84466279
107Abnormality of ocular smooth pursuit (HP:0000617)1.84154410
108Abnormality of the renal cortex (HP:0011035)1.83918949
109Focal dystonia (HP:0004373)1.83538534
110Neuronal loss in central nervous system (HP:0002529)1.83170133
111Epileptiform EEG discharges (HP:0011182)1.81536754
112Vaginal atresia (HP:0000148)1.81262019
113Abnormal auditory evoked potentials (HP:0006958)1.80779795
114Aplasia/Hypoplasia of the tibia (HP:0005772)1.80771898
115Agitation (HP:0000713)1.80629814
116Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.80587631
117EEG with generalized epileptiform discharges (HP:0011198)1.80260315
118Progressive inability to walk (HP:0002505)1.80211267
119Prolonged QT interval (HP:0001657)1.78962086
120Genital tract atresia (HP:0001827)1.77577499
121Spastic tetraplegia (HP:0002510)1.76903219
122Intestinal atresia (HP:0011100)1.75848326
123Amblyopia (HP:0000646)1.75375690
124CNS hypomyelination (HP:0003429)1.74968885
125Chronic hepatic failure (HP:0100626)1.74866534
126Absent speech (HP:0001344)1.74860280
127Delusions (HP:0000746)1.74579791
128Status epilepticus (HP:0002133)1.74280162
129Hypsarrhythmia (HP:0002521)1.73814826
130Incomplete penetrance (HP:0003829)1.73789684
131Bradykinesia (HP:0002067)1.73105840
132Acute necrotizing encephalopathy (HP:0006965)1.72318242
133Amyotrophic lateral sclerosis (HP:0007354)1.72230047
134Esotropia (HP:0000565)1.72100771
135Akinesia (HP:0002304)1.71592608
136Progressive macrocephaly (HP:0004481)1.71422827
137Scotoma (HP:0000575)1.70382074
138Peripheral hypomyelination (HP:0007182)1.70132908
139Impaired smooth pursuit (HP:0007772)1.69772477
140Abnormality of the labia minora (HP:0012880)1.69314297
141Chorioretinal atrophy (HP:0000533)1.69277259
142Nephrogenic diabetes insipidus (HP:0009806)1.69046701
143Short tibia (HP:0005736)1.67404454
144Craniofacial dystonia (HP:0012179)1.66813416
145Polyuria (HP:0000103)1.65116977
146Prominent supraorbital ridges (HP:0000336)1.63949049
147Synostosis involving the elbow (HP:0003938)1.62403282
148Humeroradial synostosis (HP:0003041)1.62403282
149Oligodactyly (hands) (HP:0001180)1.59646258

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK4.62744653
2EPHA43.61379367
3NTRK33.39220589
4MARK12.91881480
5PAK62.77157566
6PRPF4B2.61802487
7INSRR2.53440614
8MAP4K22.44586641
9NTRK22.42978345
10FRK2.25063272
11MAP3K92.16007155
12MINK12.09976608
13MAPK152.09408701
14MAP3K42.05866114
15ADRBK21.98741784
16MAP2K71.85875554
17PHKG21.82935687
18PHKG11.82935687
19MAPK131.78681547
20STK391.73091481
21CASK1.68527441
22OXSR11.64164173
23GRK11.51424582
24PRKD31.49078483
25CDK51.44267077
26NTRK11.43993938
27MAP3K121.43890318
28TYRO31.39761032
29UHMK11.35924027
30DAPK21.32885512
31KSR11.32176306
32PRKCG1.30713881
33KSR21.28430871
34BMPR1B1.28312003
35CDK191.26901317
36MUSK1.26084386
37MAP2K41.19322563
38ADRBK11.17221483
39PKN11.16881348
40WNK11.16835567
41CDK181.15021899
42ARAF1.14595288
43FES1.13767581
44CDK151.13332646
45BCR1.10527214
46GRK51.09643999
47NEK61.09422764
48CDK141.07529251
49SIK21.07191491
50CAMKK11.06334708
51PNCK1.05133589
52ICK1.01946578
53DYRK1A1.00918889
54CAMKK21.00451974
55CAMK2B1.00409022
56SGK2231.00050937
57SGK4941.00050937
58CDK11A0.99314013
59PLK20.98730702
60CSNK1G20.98059624
61ZAK0.95402750
62MARK20.94693225
63PAK30.94307363
64CAMK2A0.93826651
65ROCK20.90883470
66FGFR20.86567072
67NUAK10.86178783
68PRKCH0.86169581
69SIK30.86162837
70LMTK20.85956687
71PTK2B0.84215151
72PRKCE0.81784418
73CAMK2D0.81416359
74TAOK20.77463588
75RIPK40.75750244
76STK380.73905753
77LIMK10.71063657
78CAMK2G0.70702618
79PRKCI0.70381754
80TAOK10.69243894
81WNK30.69229896
82MYLK0.68505588
83SGK10.68264264
84DAPK10.67427821
85CSNK1A1L0.67286691
86AKT30.66954157
87STK110.65212088
88RIPK10.65005425
89CAMK10.63432809
90DAPK30.62976435
91CSNK1G30.62280491
92PRKD20.60933064
93PAK20.60511172
94SGK20.60242507
95TSSK60.59680411
96EPHB10.58919510
97TNK20.58347390
98TLK10.58058892
99BCKDK0.57832111
100BMPR20.57560918
101FYN0.57273492
102ROCK10.55914579
103MAPK100.53479500
104CSNK1G10.52398360
105GRK70.50445819
106MKNK20.50266283
107LATS20.50203125
108FER0.48467781
109RPS6KA30.48324707
110WNK40.48160914
111RAF10.47893880
112CAMK1G0.47856582
113CDC42BPA0.47733960
114SGK30.47604195
115PINK10.47317256
116PRKCZ0.46864334
117PRKCA0.46390692
118TESK10.45131498
119MAP3K20.44973848
120PRKG10.44498311
121MAP2K60.42341643
122DDR20.42288339
123PRKACB0.41570611
124PDPK10.41520009
125PRKACA0.41458375
126ACVR1B0.41450856
127MAP2K10.40387022
128DYRK20.39969162
129RET0.39348442
130VRK10.32975341
131CSNK1A10.30956346
132PRKG20.29549839
133MAPKAPK50.29252566
134TRIM280.27864886

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.55713282
2GABAergic synapse_Homo sapiens_hsa047273.24400301
3Synaptic vesicle cycle_Homo sapiens_hsa047213.03188075
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.03072301
5Morphine addiction_Homo sapiens_hsa050322.83132285
6Glutamatergic synapse_Homo sapiens_hsa047242.68057635
7Circadian entrainment_Homo sapiens_hsa047132.64373438
8Olfactory transduction_Homo sapiens_hsa047402.18306910
9Salivary secretion_Homo sapiens_hsa049702.04038426
10Long-term potentiation_Homo sapiens_hsa047201.96600553
11Cholinergic synapse_Homo sapiens_hsa047251.89452477
12Dopaminergic synapse_Homo sapiens_hsa047281.86792302
13Serotonergic synapse_Homo sapiens_hsa047261.79313271
14Taste transduction_Homo sapiens_hsa047421.74776932
15Insulin secretion_Homo sapiens_hsa049111.72341450
16Amphetamine addiction_Homo sapiens_hsa050311.72226543
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.69585576
18Long-term depression_Homo sapiens_hsa047301.65610317
19Axon guidance_Homo sapiens_hsa043601.59721352
20Gastric acid secretion_Homo sapiens_hsa049711.57222229
21Oxytocin signaling pathway_Homo sapiens_hsa049211.55008469
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53628607
23Maturity onset diabetes of the young_Homo sapiens_hsa049501.50023780
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.49235043
25Calcium signaling pathway_Homo sapiens_hsa040201.47763722
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46790607
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.46059654
28Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.45807782
29Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.45105838
30Cocaine addiction_Homo sapiens_hsa050301.36650933
31Renin secretion_Homo sapiens_hsa049241.34789473
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.33939038
33Cardiac muscle contraction_Homo sapiens_hsa042601.31030616
34Collecting duct acid secretion_Homo sapiens_hsa049661.26166162
35Protein export_Homo sapiens_hsa030601.25482707
36Parkinsons disease_Homo sapiens_hsa050121.24440469
37Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.24113656
38Gap junction_Homo sapiens_hsa045401.18547593
39cAMP signaling pathway_Homo sapiens_hsa040241.16709731
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.16633554
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12081484
42Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.11377002
43GnRH signaling pathway_Homo sapiens_hsa049121.10610113
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.09583319
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08680878
46Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05677609
47Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.05277496
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.04458693
49Type II diabetes mellitus_Homo sapiens_hsa049300.99834321
50Regulation of autophagy_Homo sapiens_hsa041400.97822967
51Phosphatidylinositol signaling system_Homo sapiens_hsa040700.97484336
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.95080789
53ErbB signaling pathway_Homo sapiens_hsa040120.94131013
54Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.92904801
55Linoleic acid metabolism_Homo sapiens_hsa005910.92895557
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.90295395
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87324042
58Dilated cardiomyopathy_Homo sapiens_hsa054140.86752563
59Estrogen signaling pathway_Homo sapiens_hsa049150.86086412
60Pancreatic secretion_Homo sapiens_hsa049720.84016240
61Vibrio cholerae infection_Homo sapiens_hsa051100.83002571
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80515005
63Melanogenesis_Homo sapiens_hsa049160.80004955
64Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.78361939
65Huntingtons disease_Homo sapiens_hsa050160.76362389
66Vascular smooth muscle contraction_Homo sapiens_hsa042700.76009389
67Phototransduction_Homo sapiens_hsa047440.75231003
68Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.75175171
69Choline metabolism in cancer_Homo sapiens_hsa052310.74475201
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74401478
71Glioma_Homo sapiens_hsa052140.70479642
72RNA polymerase_Homo sapiens_hsa030200.66427070
73Fatty acid biosynthesis_Homo sapiens_hsa000610.66215229
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65648394
75MAPK signaling pathway_Homo sapiens_hsa040100.65012048
76Thyroid hormone synthesis_Homo sapiens_hsa049180.62064815
77Ether lipid metabolism_Homo sapiens_hsa005650.61601614
78Vitamin B6 metabolism_Homo sapiens_hsa007500.61284393
79Peroxisome_Homo sapiens_hsa041460.58423092
80Renal cell carcinoma_Homo sapiens_hsa052110.58324661
81Ras signaling pathway_Homo sapiens_hsa040140.58310449
82Steroid biosynthesis_Homo sapiens_hsa001000.57979967
83beta-Alanine metabolism_Homo sapiens_hsa004100.57020382
84Sulfur relay system_Homo sapiens_hsa041220.56460719
85Hippo signaling pathway_Homo sapiens_hsa043900.56098004
86Bile secretion_Homo sapiens_hsa049760.54691105
87Endometrial cancer_Homo sapiens_hsa052130.53650922
88Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.52750959
89Alzheimers disease_Homo sapiens_hsa050100.51939727
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51112530
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.50148678
92Dorso-ventral axis formation_Homo sapiens_hsa043200.50085918
93Circadian rhythm_Homo sapiens_hsa047100.49590551
94Rap1 signaling pathway_Homo sapiens_hsa040150.48629502
95Selenocompound metabolism_Homo sapiens_hsa004500.48536058
96Endocytosis_Homo sapiens_hsa041440.47068816
97Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46901026
98Alcoholism_Homo sapiens_hsa050340.46731100
99Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.44709165
100Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42148656
101Ovarian steroidogenesis_Homo sapiens_hsa049130.41604182
102Butanoate metabolism_Homo sapiens_hsa006500.41127284
103SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40842601
104Mineral absorption_Homo sapiens_hsa049780.40823027
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.40483098
106Protein digestion and absorption_Homo sapiens_hsa049740.40366815
107ABC transporters_Homo sapiens_hsa020100.40358020
108Oocyte meiosis_Homo sapiens_hsa041140.39400137
109Wnt signaling pathway_Homo sapiens_hsa043100.38896295
110Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37055194
111Tryptophan metabolism_Homo sapiens_hsa003800.36847457
112VEGF signaling pathway_Homo sapiens_hsa043700.35983487
113Purine metabolism_Homo sapiens_hsa002300.35335116
114Basal cell carcinoma_Homo sapiens_hsa052170.34725794
115mTOR signaling pathway_Homo sapiens_hsa041500.33198858
116Inositol phosphate metabolism_Homo sapiens_hsa005620.33173944
117Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33112697
118Tight junction_Homo sapiens_hsa045300.32463746
119Oxidative phosphorylation_Homo sapiens_hsa001900.32067260
120Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31472251
121Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29409822
122Arachidonic acid metabolism_Homo sapiens_hsa005900.28879226
123Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.28511715
124Nitrogen metabolism_Homo sapiens_hsa009100.28150648
125Hedgehog signaling pathway_Homo sapiens_hsa043400.26852435
126Fatty acid elongation_Homo sapiens_hsa000620.25038731

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