PCDHGC5

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 is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.21457855
2locomotory exploration behavior (GO:0035641)6.14619361
3synaptic vesicle maturation (GO:0016188)6.00908089
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.99888099
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.46778399
6synaptic vesicle docking involved in exocytosis (GO:0016081)5.42714402
7vocalization behavior (GO:0071625)5.40801376
8glutamate secretion (GO:0014047)5.26112973
9synaptic vesicle exocytosis (GO:0016079)5.19303621
10regulation of glutamate receptor signaling pathway (GO:1900449)5.16290021
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.91966171
12ionotropic glutamate receptor signaling pathway (GO:0035235)4.89239972
13amino acid import (GO:0043090)4.84074346
14regulation of synaptic vesicle exocytosis (GO:2000300)4.81545172
15neuronal action potential propagation (GO:0019227)4.80275709
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.78451592
17regulation of neuronal synaptic plasticity (GO:0048168)4.77722847
18regulation of synapse structural plasticity (GO:0051823)4.69307637
19protein localization to synapse (GO:0035418)4.63195947
20exploration behavior (GO:0035640)4.58982385
21neurotransmitter-gated ion channel clustering (GO:0072578)4.41477638
22synaptic transmission, glutamatergic (GO:0035249)4.37632754
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.34746264
24regulation of synaptic vesicle transport (GO:1902803)4.31774939
25regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.26983449
26glutamate receptor signaling pathway (GO:0007215)4.26863190
27neurotransmitter secretion (GO:0007269)4.22418151
28dendritic spine morphogenesis (GO:0060997)4.22127901
29membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.21931397
30neuron cell-cell adhesion (GO:0007158)4.12917645
31long-term memory (GO:0007616)4.10927312
32neuron-neuron synaptic transmission (GO:0007270)4.10763585
33regulation of excitatory postsynaptic membrane potential (GO:0060079)4.09000844
34positive regulation of membrane potential (GO:0045838)4.07572194
35negative regulation of dendrite morphogenesis (GO:0050774)4.07210865
36regulation of dendritic spine morphogenesis (GO:0061001)4.01479858
37potassium ion homeostasis (GO:0055075)3.96450389
38regulation of postsynaptic membrane potential (GO:0060078)3.92511175
39regulation of synaptic plasticity (GO:0048167)3.90435779
40regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.87987467
41cellular potassium ion homeostasis (GO:0030007)3.85051898
42long-term synaptic potentiation (GO:0060291)3.81660535
43positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.76903579
44potassium ion import (GO:0010107)3.71997360
45gamma-aminobutyric acid transport (GO:0015812)3.71885024
46layer formation in cerebral cortex (GO:0021819)3.69920521
47cytoskeletal anchoring at plasma membrane (GO:0007016)3.69032876
48regulation of ARF protein signal transduction (GO:0032012)3.67305010
49neuromuscular process controlling balance (GO:0050885)3.64462892
50auditory behavior (GO:0031223)3.63471464
51G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.50308136
52regulation of synaptic transmission, glutamatergic (GO:0051966)3.50233240
53L-amino acid import (GO:0043092)3.48801447
54sodium ion export (GO:0071436)3.48569362
55response to histamine (GO:0034776)3.46295223
56innervation (GO:0060384)3.44286993
57positive regulation of dendritic spine morphogenesis (GO:0061003)3.43194526
58postsynaptic membrane organization (GO:0001941)3.40828448
59regulation of dendritic spine development (GO:0060998)3.39771042
60cellular sodium ion homeostasis (GO:0006883)3.39609204
61behavioral fear response (GO:0001662)3.39376976
62behavioral defense response (GO:0002209)3.39376976
63positive regulation of neurotransmitter transport (GO:0051590)3.38068940
64proline transport (GO:0015824)3.37877199
65positive regulation of neurotransmitter secretion (GO:0001956)3.36217496
66acidic amino acid transport (GO:0015800)3.36151740
67regulation of neurotransmitter secretion (GO:0046928)3.35517749
68chemosensory behavior (GO:0007635)3.34845068
69cell communication involved in cardiac conduction (GO:0086065)3.34781859
70fear response (GO:0042596)3.34633872
71regulation of synapse maturation (GO:0090128)3.34575759
72negative regulation of synaptic transmission, GABAergic (GO:0032229)3.34219467
73presynaptic membrane assembly (GO:0097105)3.33373901
74membrane hyperpolarization (GO:0060081)3.32877993
75response to auditory stimulus (GO:0010996)3.32695969
76neurotransmitter transport (GO:0006836)3.31638321
77positive regulation of synapse maturation (GO:0090129)3.31015269
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.29672451
79activation of protein kinase A activity (GO:0034199)3.27640681
80prepulse inhibition (GO:0060134)3.20749859
81positive regulation of synaptic transmission (GO:0050806)3.19342587
82gamma-aminobutyric acid signaling pathway (GO:0007214)3.18581150
83vesicle docking involved in exocytosis (GO:0006904)3.18140974
84membrane depolarization (GO:0051899)3.17631310
85dendritic spine organization (GO:0097061)3.17298295
86cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16880582
87central nervous system myelination (GO:0022010)3.16691623
88axon ensheathment in central nervous system (GO:0032291)3.16691623
89positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.15892583
90neuron recognition (GO:0008038)3.15046998
91transmission of nerve impulse (GO:0019226)3.14270063
92regulation of neurotransmitter transport (GO:0051588)3.14193343
93neuronal ion channel clustering (GO:0045161)3.13711025
94learning (GO:0007612)3.12933455
95positive regulation of dendritic spine development (GO:0060999)3.12382796
96regulation of neurotransmitter levels (GO:0001505)3.12122498
97axonal fasciculation (GO:0007413)3.10760848
98negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.10668353
99regulation of vesicle fusion (GO:0031338)3.09271925
100G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08476300
101behavioral response to cocaine (GO:0048148)3.07464818
102regulation of synaptic transmission (GO:0050804)3.06385106
103cell communication by electrical coupling (GO:0010644)3.06195320
104detection of calcium ion (GO:0005513)3.05149890
105synaptic vesicle endocytosis (GO:0048488)3.02408965
106presynaptic membrane organization (GO:0097090)3.02188888
107mechanosensory behavior (GO:0007638)3.01539496
108cerebellar Purkinje cell differentiation (GO:0021702)3.01044255
109neurotransmitter uptake (GO:0001504)3.00950158
110regulation of voltage-gated calcium channel activity (GO:1901385)3.00154864
111response to gravity (GO:0009629)2.99185757
112neuromuscular process (GO:0050905)2.98927460
113visual learning (GO:0008542)2.98703757
114L-glutamate transport (GO:0015813)2.97599407
115neuromuscular synaptic transmission (GO:0007274)2.97515005
116vesicle docking (GO:0048278)2.95420373
117positive regulation of dendrite development (GO:1900006)2.93289173
118synaptic transmission (GO:0007268)2.93075031
119dendrite morphogenesis (GO:0048813)2.92247437
120membrane depolarization during action potential (GO:0086010)2.91950044
121glycine transport (GO:0015816)2.90744655
122long term synaptic depression (GO:0060292)2.90621722
123cerebellar granule cell differentiation (GO:0021707)2.90461434
124serotonin metabolic process (GO:0042428)2.90273278
125neuromuscular process controlling posture (GO:0050884)2.89419560
126regulation of dendrite morphogenesis (GO:0048814)2.87127055

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.88746364
2GBX2_23144817_ChIP-Seq_PC3_Human3.40565043
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17667504
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.15977308
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10678069
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83050793
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83050793
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.79557848
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74419568
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.71883134
11DROSHA_22980978_ChIP-Seq_HELA_Human2.60023119
12* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.59996604
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55601536
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.55587458
15REST_21632747_ChIP-Seq_MESCs_Mouse2.54054309
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.52567795
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.52227265
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49043290
19* EED_16625203_ChIP-ChIP_MESCs_Mouse2.41085467
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28064322
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.27244926
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.19332435
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.18995100
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.16238431
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.06174596
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94913934
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.90121572
28AR_21572438_ChIP-Seq_LNCaP_Human1.82919635
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.74828391
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.67959188
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.66961892
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64917576
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62649150
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59560479
35PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.56215238
36SMAD4_21799915_ChIP-Seq_A2780_Human1.55187264
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.49950933
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41298420
39* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37197985
40TAF15_26573619_Chip-Seq_HEK293_Human1.36845773
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.35649910
42TET1_21490601_ChIP-Seq_MESCs_Mouse1.34694268
43* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34473623
44TP53_16413492_ChIP-PET_HCT116_Human1.31682111
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31477965
46TRIM28_21343339_ChIP-Seq_HEK293_Human1.30945914
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.28171338
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.27987566
49P300_19829295_ChIP-Seq_ESCs_Human1.27806238
50SMAD_19615063_ChIP-ChIP_OVARY_Human1.27094315
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25804811
52AR_19668381_ChIP-Seq_PC3_Human1.25621428
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.25506418
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23943637
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.22482808
56ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21980277
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21439245
58AR_25329375_ChIP-Seq_VCAP_Human1.20874645
59WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20660452
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20654817
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.18789021
62RING1B_27294783_Chip-Seq_NPCs_Mouse1.16248111
63STAT3_23295773_ChIP-Seq_U87_Human1.13410664
64RXR_22108803_ChIP-Seq_LS180_Human1.12217866
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11724763
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11350591
67EP300_21415370_ChIP-Seq_HL-1_Mouse1.09991230
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09897293
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.09362935
70KDM2B_26808549_Chip-Seq_K562_Human1.08834676
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.08551743
72AHR_22903824_ChIP-Seq_MCF-7_Human1.07743887
73SMAD3_21741376_ChIP-Seq_HESCs_Human1.05888243
74* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05816078
75CBX2_27304074_Chip-Seq_ESCs_Mouse1.05678508
76EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05659851
77VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.05170473
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.04845343
79EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03827620
80OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.03779426
81ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03630366
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02501497
83SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.02106275
84LXR_22292898_ChIP-Seq_THP-1_Human1.01299995
85TCF4_23295773_ChIP-Seq_U87_Human1.01227951
86ZNF274_21170338_ChIP-Seq_K562_Hela1.01156924
87YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01068171
88* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00906848
89* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99473665
90NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97655609
91* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97228305
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96732764
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96011656
94TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.95674968
95ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95570755
96TP53_18474530_ChIP-ChIP_U2OS_Human0.95085751
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94912502
98SMAD4_21741376_ChIP-Seq_HESCs_Human0.94111941
99PRDM14_20953172_ChIP-Seq_ESCs_Human0.93646279
100SMAD3_21741376_ChIP-Seq_ESCs_Human0.93206132
101DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.92398672
102PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91861432
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91569901
104* TP53_23651856_ChIP-Seq_MEFs_Mouse0.91396852
105RUNX2_22187159_ChIP-Seq_PCA_Human0.91366121
106CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.91213051
107* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.89979029
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88922989
109TP53_20018659_ChIP-ChIP_R1E_Mouse0.87551865
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87255221
111TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86608213
112CTNNB1_20460455_ChIP-Seq_HCT116_Human0.86198360
113SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85292671
114TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.85189692
115* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85006566
116GATA1_26923725_Chip-Seq_HPCs_Mouse0.84490694
117BCAT_22108803_ChIP-Seq_LS180_Human0.84460513
118TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84396061
119TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82830538
120POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.82830538
121CTCF_27219007_Chip-Seq_Bcells_Human0.81092352
122SRY_22984422_ChIP-ChIP_TESTIS_Rat0.79650297
123EGR1_19032775_ChIP-ChIP_M12_Human0.79532847
124UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.78732729
125RUNX1_26923725_Chip-Seq_HPCs_Mouse0.77891693
126LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77817903
127SMC4_20622854_ChIP-Seq_HELA_Human0.76652434
128DPY_21335234_ChIP-Seq_ESCs_Mouse0.76068965
129MYC_19915707_ChIP-ChIP_AK7_Human0.76063346

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.54634967
2MP0003880_abnormal_central_pattern4.84924978
3MP0003635_abnormal_synaptic_transmissio4.43034003
4MP0002822_catalepsy3.91321454
5MP0004270_analgesia3.84687861
6MP0009745_abnormal_behavioral_response3.63012444
7MP0002063_abnormal_learning/memory/cond3.57099770
8MP0002064_seizures3.27720456
9MP0009046_muscle_twitch2.99071843
10MP0002572_abnormal_emotion/affect_behav2.90379868
11MP0001968_abnormal_touch/_nociception2.78280946
12MP0001486_abnormal_startle_reflex2.73696239
13MP0002272_abnormal_nervous_system2.59776172
14MP0005423_abnormal_somatic_nervous2.47702285
15MP0009780_abnormal_chondrocyte_physiolo2.41666764
16MP0002734_abnormal_mechanical_nocicepti2.40689982
17MP0001501_abnormal_sleep_pattern2.22403078
18MP0002736_abnormal_nociception_after2.06572366
19MP0008569_lethality_at_weaning1.98100059
20MP0001440_abnormal_grooming_behavior1.96432871
21MP0004858_abnormal_nervous_system1.86592997
22MP0005646_abnormal_pituitary_gland1.81482441
23MP0002067_abnormal_sensory_capabilities1.76469159
24MP0004811_abnormal_neuron_physiology1.74131608
25MP0001970_abnormal_pain_threshold1.73976653
26MP0003879_abnormal_hair_cell1.73182303
27MP0003329_amyloid_beta_deposits1.72211869
28MP0002735_abnormal_chemical_nociception1.70557881
29MP0002733_abnormal_thermal_nociception1.68236845
30MP0002557_abnormal_social/conspecific_i1.65105942
31MP0002909_abnormal_adrenal_gland1.59361172
32MP0002184_abnormal_innervation1.57382059
33MP0000778_abnormal_nervous_system1.56476091
34MP0004924_abnormal_behavior1.52659814
35MP0005386_behavior/neurological_phenoty1.52659814
36MP0004885_abnormal_endolymph1.48960327
37MP0003633_abnormal_nervous_system1.48820160
38MP0000955_abnormal_spinal_cord1.42063762
39MP0001984_abnormal_olfaction1.39432279
40MP0001188_hyperpigmentation1.36710503
41MP0002066_abnormal_motor_capabilities/c1.36012320
42MP0002882_abnormal_neuron_morphology1.33914593
43MP0000579_abnormal_nail_morphology1.32802109
44MP0003787_abnormal_imprinting1.24128525
45MP0003075_altered_response_to1.21240049
46MP0003631_nervous_system_phenotype1.20028547
47MP0001177_atelectasis1.15693307
48MP0001529_abnormal_vocalization1.15042563
49MP0003123_paternal_imprinting1.13379661
50MP0008872_abnormal_physiological_respon1.12993482
51MP0001905_abnormal_dopamine_level1.12010904
52MP0001502_abnormal_circadian_rhythm1.09925254
53MP0000751_myopathy1.06627292
54MP0001348_abnormal_lacrimal_gland1.05795998
55MP0002152_abnormal_brain_morphology1.04192157
56MP0008874_decreased_physiological_sensi1.01803860
57MP0004085_abnormal_heartbeat1.00834293
58MP0004142_abnormal_muscle_tone0.99635099
59MP0003705_abnormal_hypodermis_morpholog0.98203819
60MP0000569_abnormal_digit_pigmentation0.97665730
61MP0003690_abnormal_glial_cell0.96327615
62MP0002069_abnormal_eating/drinking_beha0.92129469
63MP0005623_abnormal_meninges_morphology0.89668743
64MP0001346_abnormal_lacrimal_gland0.86656537
65MP0002090_abnormal_vision0.86519490
66MP0003283_abnormal_digestive_organ0.86173014
67MP0005645_abnormal_hypothalamus_physiol0.85952771
68MP0000013_abnormal_adipose_tissue0.85239621
69MP0006276_abnormal_autonomic_nervous0.83552555
70MP0005167_abnormal_blood-brain_barrier0.81363451
71MP0003634_abnormal_glial_cell0.81011718
72MP0005409_darkened_coat_color0.80331799
73MP0005535_abnormal_body_temperature0.79326650
74MP0001958_emphysema0.78775203
75MP0003122_maternal_imprinting0.78675647
76MP0008961_abnormal_basal_metabolism0.77889215
77MP0003632_abnormal_nervous_system0.75619700
78MP0004130_abnormal_muscle_cell0.75431357
79MP0002229_neurodegeneration0.75048838
80MP0000604_amyloidosis0.74613598
81MP0000920_abnormal_myelination0.74217364
82MP0004145_abnormal_muscle_electrophysio0.73714816
83MP0001963_abnormal_hearing_physiology0.73712631
84MP0005551_abnormal_eye_electrophysiolog0.73081540
85MP0004742_abnormal_vestibular_system0.72903690
86MP0004484_altered_response_of0.70711916
87MP0004215_abnormal_myocardial_fiber0.69464787
88MP0010386_abnormal_urinary_bladder0.69206191
89MP0001485_abnormal_pinna_reflex0.68721580
90MP0000631_abnormal_neuroendocrine_gland0.67758756
91MP0003172_abnormal_lysosome_physiology0.67655295
92MP0003045_fibrosis0.67029408
93MP0003137_abnormal_impulse_conducting0.66996552
94MP0004043_abnormal_pH_regulation0.64482780
95MP0004147_increased_porphyrin_level0.64352182
96MP0004233_abnormal_muscle_weight0.63497210
97MP0005394_taste/olfaction_phenotype0.62063560
98MP0005499_abnormal_olfactory_system0.62063560
99MP0001664_abnormal_digestion0.60154184
100MP0002133_abnormal_respiratory_system0.58013344
101MP0005388_respiratory_system_phenotype0.58013344
102MP0010234_abnormal_vibrissa_follicle0.58006962
103MP0002752_abnormal_somatic_nervous0.56943737
104MP0001299_abnormal_eye_distance/0.56484506
105MP0004510_myositis0.55062403
106MP0001986_abnormal_taste_sensitivity0.54978177
107MP0002089_abnormal_postnatal_growth/wei0.53684106
108MP0001943_abnormal_respiration0.52952100
109MP0010769_abnormal_survival0.51960647
110MP0002837_dystrophic_cardiac_calcinosis0.50767159
111MP0000747_muscle_weakness0.50197657
112MP0000749_muscle_degeneration0.49305463
113MP0002082_postnatal_lethality0.48825421
114MP0010770_preweaning_lethality0.48825421
115MP0005166_decreased_susceptibility_to0.48339220
116MP0010768_mortality/aging0.48016305
117MP0008438_abnormal_cutaneous_collagen0.47900238
118MP0005595_abnormal_vascular_smooth0.47824231
119MP0002295_abnormal_pulmonary_circulatio0.47395738
120MP0003183_abnormal_peptide_metabolism0.46533771
121MP0005165_increased_susceptibility_to0.45842698

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.13221527
2Myokymia (HP:0002411)7.70946597
3Focal seizures (HP:0007359)5.84963630
4Epileptic encephalopathy (HP:0200134)5.00119620
5Visual hallucinations (HP:0002367)4.51544577
6Progressive cerebellar ataxia (HP:0002073)4.25945017
7Atonic seizures (HP:0010819)4.25399374
8Febrile seizures (HP:0002373)4.20218165
9Impaired vibration sensation in the lower limbs (HP:0002166)3.93800579
10Action tremor (HP:0002345)3.92719751
11Absence seizures (HP:0002121)3.91984095
12Generalized tonic-clonic seizures (HP:0002069)3.69608666
13Dialeptic seizures (HP:0011146)3.60635347
14Broad-based gait (HP:0002136)3.47968454
15Poor eye contact (HP:0000817)3.32677599
16Gaze-evoked nystagmus (HP:0000640)3.31724826
17Urinary bladder sphincter dysfunction (HP:0002839)3.29665320
18Depression (HP:0000716)3.28451869
19Hyperventilation (HP:0002883)3.25635308
20Dysdiadochokinesis (HP:0002075)3.20544334
21Dysmetria (HP:0001310)3.12144876
22Tetraplegia (HP:0002445)3.11285065
23Postural instability (HP:0002172)3.02379528
24Anxiety (HP:0000739)3.01986696
25Abnormal social behavior (HP:0012433)2.96339265
26Impaired social interactions (HP:0000735)2.96339265
27Torticollis (HP:0000473)2.95095446
28Ankle clonus (HP:0011448)2.94936425
29Supranuclear gaze palsy (HP:0000605)2.90127175
30Genetic anticipation (HP:0003743)2.84388739
31Stereotypic behavior (HP:0000733)2.84054848
32Neuronal loss in central nervous system (HP:0002529)2.83959556
33Papilledema (HP:0001085)2.82684321
34Abnormal eating behavior (HP:0100738)2.82532396
35Annular pancreas (HP:0001734)2.81227470
36Amblyopia (HP:0000646)2.81017466
37Megalencephaly (HP:0001355)2.79092316
38Impaired vibratory sensation (HP:0002495)2.75885608
39Truncal ataxia (HP:0002078)2.74995383
40Focal dystonia (HP:0004373)2.74510503
41Impaired smooth pursuit (HP:0007772)2.71174059
42Urinary urgency (HP:0000012)2.68072171
43Aplasia involving bones of the extremities (HP:0009825)2.66799025
44Aplasia involving bones of the upper limbs (HP:0009823)2.66799025
45Aplasia of the phalanges of the hand (HP:0009802)2.66799025
46Scanning speech (HP:0002168)2.60742590
47Cerebral hypomyelination (HP:0006808)2.60257881
48Dysmetric saccades (HP:0000641)2.58687764
49Hemiplegia (HP:0002301)2.58589241
50Spastic gait (HP:0002064)2.56256011
51Mutism (HP:0002300)2.55861978
52Apathy (HP:0000741)2.53195939
53Akinesia (HP:0002304)2.51191079
54Abnormality of the lower motor neuron (HP:0002366)2.46651035
55Hemiparesis (HP:0001269)2.46184361
56Epileptiform EEG discharges (HP:0011182)2.44380315
57Delusions (HP:0000746)2.42196713
58Pointed chin (HP:0000307)2.40024767
59Ankyloglossia (HP:0010296)2.38754429
60Intention tremor (HP:0002080)2.38120094
61Craniofacial dystonia (HP:0012179)2.36057183
62Excessive salivation (HP:0003781)2.35841248
63Drooling (HP:0002307)2.35841248
64Peripheral hypomyelination (HP:0007182)2.35377934
65Limb dystonia (HP:0002451)2.34548225
66Clonus (HP:0002169)2.32221518
67Obstructive sleep apnea (HP:0002870)2.30998264
68Termporal pattern (HP:0011008)2.29693626
69Insidious onset (HP:0003587)2.29693626
70Status epilepticus (HP:0002133)2.27162095
71Abnormality of ocular smooth pursuit (HP:0000617)2.25870835
72EEG with generalized epileptiform discharges (HP:0011198)2.24870285
73Thickened helices (HP:0000391)2.24826436
74Upper limb amyotrophy (HP:0009129)2.23300814
75Distal upper limb amyotrophy (HP:0007149)2.23300814
76Sleep apnea (HP:0010535)2.21873824
77Diminished motivation (HP:0000745)2.21857063
78Rigidity (HP:0002063)2.21061845
79Diplopia (HP:0000651)2.19103194
80Abnormality of binocular vision (HP:0011514)2.19103194
81Bradykinesia (HP:0002067)2.19075625
82Rapidly progressive (HP:0003678)2.19071719
83Absent speech (HP:0001344)2.18382603
84Ventricular fibrillation (HP:0001663)2.16952975
85Neurofibrillary tangles (HP:0002185)2.16529018
86Hypsarrhythmia (HP:0002521)2.14521004
87Lower limb muscle weakness (HP:0007340)2.13469325
88Incomplete penetrance (HP:0003829)2.13408463
89Hand muscle atrophy (HP:0009130)2.12586695
90Cerebral inclusion bodies (HP:0100314)2.09120360
91Progressive inability to walk (HP:0002505)2.07532697
92Spastic tetraparesis (HP:0001285)2.03552906
93Lower limb amyotrophy (HP:0007210)2.02110394
94Fetal akinesia sequence (HP:0001989)2.00796459
95Bronchomalacia (HP:0002780)1.95980072
96Mild short stature (HP:0003502)1.95936545
97Resting tremor (HP:0002322)1.94516568
98Bundle branch block (HP:0011710)1.93542980
99Sudden death (HP:0001699)1.93156451
100Abnormality of the corticospinal tract (HP:0002492)1.92202311
101Gait ataxia (HP:0002066)1.91399780
102Inability to walk (HP:0002540)1.90793245
103Generalized myoclonic seizures (HP:0002123)1.90373003
104Lower limb asymmetry (HP:0100559)1.89059394
105Heart block (HP:0012722)1.87982377
106Abnormal EKG (HP:0003115)1.87037674
107Abnormal atrioventricular conduction (HP:0005150)1.85537504
108Atrophic scars (HP:0001075)1.84900987
109Turricephaly (HP:0000262)1.84819136
110Shallow orbits (HP:0000586)1.83283604
111Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.80954293
112Spinal canal stenosis (HP:0003416)1.76212395
113Insomnia (HP:0100785)1.76085456
114Atrioventricular block (HP:0001678)1.75578776
115Hammertoe (HP:0001765)1.73233459
116Abnormality of oral frenula (HP:0000190)1.72686898
117Hyperacusis (HP:0010780)1.72627127
118Abnormality of the periventricular white matter (HP:0002518)1.70841919
119Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.70675314
120Degeneration of the lateral corticospinal tracts (HP:0002314)1.70675314
121Deep palmar crease (HP:0006191)1.69118641
122Deeply set eye (HP:0000490)1.68928981
123Blue irides (HP:0000635)1.68675090
124Hypoplastic nipples (HP:0002557)1.68325695
125Split foot (HP:0001839)1.67725791
126Abnormality of salivation (HP:0100755)1.64043368
127Abnormality of saccadic eye movements (HP:0000570)1.62892922
128Bowel incontinence (HP:0002607)1.62153717
129Agitation (HP:0000713)1.58339030

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.76191126
2NTRK34.69945023
3MAP3K93.50408563
4DAPK22.80386353
5PRKD32.50450063
6KSR22.37200432
7MAP3K42.35622861
8PAK62.30028327
9MINK12.27148927
10NTRK22.12180420
11MAP2K72.07418359
12NTRK12.07133074
13MAP3K132.06683865
14CAMKK12.06406394
15KSR12.04795020
16CASK1.87659033
17RIPK41.79316689
18DAPK11.74042457
19TNIK1.70742968
20MARK11.69140691
21CDK51.58018347
22PRPF4B1.53985412
23CDK191.49555977
24CAMKK21.40666774
25MAP3K21.40154490
26AKT31.39387978
27MAP2K41.33758475
28STK381.33691072
29ARAF1.22654873
30PLK21.20799989
31FES1.20390400
32CAMK11.15257352
33MAP3K121.13698074
34PRKCG1.13253072
35PTK2B1.11521510
36TYRO31.10773892
37SGK21.08610965
38TAOK11.08234879
39SGK4941.06971543
40SGK2231.06971543
41UHMK11.05103486
42SIK21.04002129
43GRK51.01264475
44RAF10.98519317
45MAPK130.98225190
46CAMK2A0.97470359
47SGK30.93352797
48STK110.91897674
49LIMK10.90209534
50CDK180.89138027
51PRKCH0.87549430
52PAK30.85164193
53CDK150.84574961
54CAMK2B0.82465009
55MAPK120.81364535
56SGK10.81204262
57TESK10.80425254
58PDGFRA0.79752345
59PDK10.78622510
60CDK140.76884312
61ROCK20.76408130
62PNCK0.75816521
63MAP3K10.74886448
64CAMK1G0.73752333
65CDK11A0.73748274
66PINK10.73541400
67MAP3K70.72950869
68PDPK10.72501035
69DMPK0.71436680
70OXSR10.70458221
71ALK0.69226093
72BRAF0.68349607
73SIK30.67336477
74BMPR20.66481785
75CAMK40.65173237
76RET0.63757261
77NEK60.63360100
78BRSK10.62967521
79LMTK20.61059821
80DYRK1A0.60885305
81WNK10.60417558
82PHKG10.57582516
83PHKG20.57582516
84MARK20.54799809
85ROCK10.54542447
86DDR20.54534759
87TNK20.53744001
88LATS20.52843433
89MAP2K10.52120598
90RPS6KA30.51720201
91PKN10.51604883
92FER0.51172017
93PTK20.50993651
94FGR0.49091572
95CDC42BPA0.48744608
96PRKCE0.48269400
97PRKCZ0.47338106
98DAPK30.45307771
99MAP3K110.44387303
100ICK0.40853066
101FYN0.40543343
102RIPK10.38169120
103CAMK1D0.37928268
104CAMK2D0.37806465
105CCNB10.37705564
106MAPK100.37694220
107CAMK2G0.37349767
108NEK10.35538881
109BMX0.35408070
110FGFR20.34830133
111MOS0.33105746
112PRKD20.31940622
113ERBB20.31160537
114PRKG20.31105686
115PRKCB0.31025528
116PRKCA0.29767597
117SRC0.29395398

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.52228619
2Synaptic vesicle cycle_Homo sapiens_hsa047212.95172375
3Olfactory transduction_Homo sapiens_hsa047402.88732389
4Long-term potentiation_Homo sapiens_hsa047202.77533330
5Circadian entrainment_Homo sapiens_hsa047132.73190460
6Glutamatergic synapse_Homo sapiens_hsa047242.58124925
7Amphetamine addiction_Homo sapiens_hsa050312.57321645
8GABAergic synapse_Homo sapiens_hsa047272.52084901
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.49963925
10Morphine addiction_Homo sapiens_hsa050322.43506243
11Salivary secretion_Homo sapiens_hsa049702.35423101
12Insulin secretion_Homo sapiens_hsa049112.04198481
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02801892
14Dopaminergic synapse_Homo sapiens_hsa047282.02360677
15Gastric acid secretion_Homo sapiens_hsa049711.97814013
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.95273337
17Cholinergic synapse_Homo sapiens_hsa047251.94527981
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76216231
19Calcium signaling pathway_Homo sapiens_hsa040201.74238768
20Oxytocin signaling pathway_Homo sapiens_hsa049211.71838358
21Renin secretion_Homo sapiens_hsa049241.70625916
22Cocaine addiction_Homo sapiens_hsa050301.68770858
23Long-term depression_Homo sapiens_hsa047301.59105712
24Nitrogen metabolism_Homo sapiens_hsa009101.56069966
25Serotonergic synapse_Homo sapiens_hsa047261.51188869
26Taste transduction_Homo sapiens_hsa047421.48592074
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.47570398
28GnRH signaling pathway_Homo sapiens_hsa049121.45965027
29cAMP signaling pathway_Homo sapiens_hsa040241.40088573
30Gap junction_Homo sapiens_hsa045401.37646249
31Glioma_Homo sapiens_hsa052141.37337734
32Vitamin B6 metabolism_Homo sapiens_hsa007501.27240298
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24705572
34Type II diabetes mellitus_Homo sapiens_hsa049301.19622367
35ErbB signaling pathway_Homo sapiens_hsa040121.18118686
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14196756
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13848620
38Melanogenesis_Homo sapiens_hsa049161.13428614
39Collecting duct acid secretion_Homo sapiens_hsa049661.12357749
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10848490
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.10005023
42Estrogen signaling pathway_Homo sapiens_hsa049151.09423268
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09209062
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06747176
45Axon guidance_Homo sapiens_hsa043601.02610475
46Vascular smooth muscle contraction_Homo sapiens_hsa042701.01966295
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97390030
48Dorso-ventral axis formation_Homo sapiens_hsa043200.96925277
49Dilated cardiomyopathy_Homo sapiens_hsa054140.94591599
50Pancreatic secretion_Homo sapiens_hsa049720.89196511
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.87736162
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79794029
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79235504
54Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78524857
55Oocyte meiosis_Homo sapiens_hsa041140.78481582
56Thyroid hormone synthesis_Homo sapiens_hsa049180.77584166
57Cardiac muscle contraction_Homo sapiens_hsa042600.75228242
58Vibrio cholerae infection_Homo sapiens_hsa051100.72691823
59MAPK signaling pathway_Homo sapiens_hsa040100.71966293
60Choline metabolism in cancer_Homo sapiens_hsa052310.71758999
61Rap1 signaling pathway_Homo sapiens_hsa040150.69646198
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68850987
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.64648064
64VEGF signaling pathway_Homo sapiens_hsa043700.63708628
65Ras signaling pathway_Homo sapiens_hsa040140.62601447
66Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.61786926
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61329652
68Glucagon signaling pathway_Homo sapiens_hsa049220.61088917
69Phototransduction_Homo sapiens_hsa047440.60926183
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60093783
71Non-small cell lung cancer_Homo sapiens_hsa052230.58751043
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58077485
73ECM-receptor interaction_Homo sapiens_hsa045120.56353921
74mTOR signaling pathway_Homo sapiens_hsa041500.55683362
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.54498266
76Bile secretion_Homo sapiens_hsa049760.53893458
77Focal adhesion_Homo sapiens_hsa045100.53173712
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.52088258
79Wnt signaling pathway_Homo sapiens_hsa043100.48436711
80Endocytosis_Homo sapiens_hsa041440.47740603
81Alcoholism_Homo sapiens_hsa050340.47099872
82Renal cell carcinoma_Homo sapiens_hsa052110.46052313
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45670251
84Inositol phosphate metabolism_Homo sapiens_hsa005620.44994358
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44945672
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.44839195
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44659109
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44138877
89Prion diseases_Homo sapiens_hsa050200.43371263
90African trypanosomiasis_Homo sapiens_hsa051430.42517650
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41794988
92Fatty acid biosynthesis_Homo sapiens_hsa000610.40412065
93Type I diabetes mellitus_Homo sapiens_hsa049400.40231053
94Chemokine signaling pathway_Homo sapiens_hsa040620.40149414
95Endometrial cancer_Homo sapiens_hsa052130.39947578
96Circadian rhythm_Homo sapiens_hsa047100.39931198
97Amoebiasis_Homo sapiens_hsa051460.39353987
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38269224
99Tight junction_Homo sapiens_hsa045300.37491245
100Ovarian steroidogenesis_Homo sapiens_hsa049130.36225910
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35612213
102Hippo signaling pathway_Homo sapiens_hsa043900.35248187
103Insulin signaling pathway_Homo sapiens_hsa049100.34843170
104Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33877027
105Protein digestion and absorption_Homo sapiens_hsa049740.32467684
106Proteoglycans in cancer_Homo sapiens_hsa052050.30778067
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.29571098
108Arginine biosynthesis_Homo sapiens_hsa002200.29270633
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27999022
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.26998610
111Platelet activation_Homo sapiens_hsa046110.26447433
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26410910

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