CDH20

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 type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)6.32814908
2central nervous system myelination (GO:0022010)6.32814908
3L-amino acid import (GO:0043092)5.67008205
4amino acid import (GO:0043090)5.09049860
5neuron cell-cell adhesion (GO:0007158)4.83839636
6locomotory exploration behavior (GO:0035641)4.64935455
7presynaptic membrane assembly (GO:0097105)4.42841286
8presynaptic membrane organization (GO:0097090)4.33543226
9negative regulation of cytosolic calcium ion concentration (GO:0051481)4.12305852
10vocalization behavior (GO:0071625)4.06407760
11positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.01916543
12myelination (GO:0042552)3.98924887
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.93017772
14gamma-aminobutyric acid transport (GO:0015812)3.92613897
15ionotropic glutamate receptor signaling pathway (GO:0035235)3.92381275
16axon ensheathment (GO:0008366)3.88448036
17ensheathment of neurons (GO:0007272)3.88448036
18cerebellar granule cell differentiation (GO:0021707)3.87071097
19regulation of short-term neuronal synaptic plasticity (GO:0048172)3.84548995
20glutamate receptor signaling pathway (GO:0007215)3.83752072
21G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.81984302
22neuronal action potential propagation (GO:0019227)3.73785297
23C4-dicarboxylate transport (GO:0015740)3.64377280
24negative regulation of neurotransmitter transport (GO:0051589)3.63068840
25negative regulation of synaptic transmission, GABAergic (GO:0032229)3.62085983
26transmission of nerve impulse (GO:0019226)3.61062929
27synaptic transmission, glutamatergic (GO:0035249)3.57992879
28postsynaptic membrane organization (GO:0001941)3.55414922
29regulation of synapse structural plasticity (GO:0051823)3.52983003
30cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.51764446
31neurotransmitter-gated ion channel clustering (GO:0072578)3.49825037
32regulation of synaptic vesicle exocytosis (GO:2000300)3.45499881
33regulation of glutamate receptor signaling pathway (GO:1900449)3.41897258
34glutamate secretion (GO:0014047)3.39998129
35cerebral cortex radially oriented cell migration (GO:0021799)3.38540240
36synaptic vesicle exocytosis (GO:0016079)3.34854134
37cellular potassium ion homeostasis (GO:0030007)3.33707913
38adult walking behavior (GO:0007628)3.33393883
39synaptic vesicle maturation (GO:0016188)3.31200099
40neurotransmitter uptake (GO:0001504)3.29340912
41negative regulation of neurotransmitter secretion (GO:0046929)3.27616941
42gamma-aminobutyric acid signaling pathway (GO:0007214)3.27436509
43fatty acid elongation (GO:0030497)3.26398946
44long-chain fatty acid biosynthetic process (GO:0042759)3.25783252
45neuron-neuron synaptic transmission (GO:0007270)3.25529418
46dendritic spine morphogenesis (GO:0060997)3.24854381
47neuronal ion channel clustering (GO:0045161)3.24616039
48protein localization to synapse (GO:0035418)3.24445967
49membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.23673626
50peripheral nervous system axon ensheathment (GO:0032292)3.22841828
51myelination in peripheral nervous system (GO:0022011)3.22841828
52cell communication by electrical coupling (GO:0010644)3.22812707
53regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.21812877
54neuron recognition (GO:0008038)3.20800118
55neuromuscular process controlling balance (GO:0050885)3.19959386
56cellular sodium ion homeostasis (GO:0006883)3.19346265
57establishment of mitochondrion localization (GO:0051654)3.18348753
58pyrimidine nucleobase catabolic process (GO:0006208)3.16199461
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.14889563
60glycine transport (GO:0015816)3.11838495
61regulation of neurotransmitter secretion (GO:0046928)3.11324726
62exploration behavior (GO:0035640)3.10184928
63regulation of synaptic transmission, glutamatergic (GO:0051966)3.08465555
64acidic amino acid transport (GO:0015800)3.06675231
65response to auditory stimulus (GO:0010996)3.04941243
66negative regulation of protein localization to cell surface (GO:2000009)3.04902272
67dendrite morphogenesis (GO:0048813)3.03875711
68axonal fasciculation (GO:0007413)3.03737328
69negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.03007993
70regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.02743977
71astrocyte differentiation (GO:0048708)3.01610055
72long-term synaptic potentiation (GO:0060291)3.00308172
73regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.99580508
74regulation of neurotransmitter transport (GO:0051588)2.99293396
75auditory behavior (GO:0031223)2.99261992
76positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.98599033
77neurotransmitter secretion (GO:0007269)2.98372561
78regulation of female receptivity (GO:0045924)2.97886413
79regulation of neuronal synaptic plasticity (GO:0048168)2.94192374
80positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.94171030
81astrocyte development (GO:0014002)2.92437448
82regulation of respiratory system process (GO:0044065)2.91081630
83synaptic vesicle endocytosis (GO:0048488)2.90790189
84oligodendrocyte differentiation (GO:0048709)2.90678580
85membrane depolarization during action potential (GO:0086010)2.90663641
86positive regulation of neurotransmitter secretion (GO:0001956)2.90058201
87central nervous system projection neuron axonogenesis (GO:0021952)2.89370606
88sodium ion export (GO:0071436)2.88903400
89positive regulation of synapse assembly (GO:0051965)2.88083339
90mechanosensory behavior (GO:0007638)2.88017165
91regulation of synaptic vesicle transport (GO:1902803)2.87714424
92innervation (GO:0060384)2.87431090
93negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.87097857
94eye photoreceptor cell differentiation (GO:0001754)2.86823100
95photoreceptor cell differentiation (GO:0046530)2.86823100
96potassium ion homeostasis (GO:0055075)2.85720028
97long-term memory (GO:0007616)2.84791326
98synapse assembly (GO:0007416)2.83354468
99membrane assembly (GO:0071709)2.82410436
100regulation of long-term neuronal synaptic plasticity (GO:0048169)2.82183725
101positive regulation of neurotransmitter transport (GO:0051590)2.82031435
102positive regulation of dendritic spine development (GO:0060999)2.81707859
103membrane hyperpolarization (GO:0060081)2.81400400
104regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81377783
105L-glutamate transport (GO:0015813)2.81126639
106response to methylmercury (GO:0051597)2.80938184
107neurotransmitter transport (GO:0006836)2.78971167
108synaptic vesicle docking involved in exocytosis (GO:0016081)2.78479046
109neuromuscular process (GO:0050905)2.77802539
110potassium ion import (GO:0010107)2.73988442
111cerebellar Purkinje cell differentiation (GO:0021702)2.72941244
112regulation of neurotransmitter levels (GO:0001505)2.72433942
113synapse organization (GO:0050808)2.72075305
114regulation of excitatory postsynaptic membrane potential (GO:0060079)2.71954726
115layer formation in cerebral cortex (GO:0021819)2.70743042
116positive regulation of synaptic transmission, GABAergic (GO:0032230)2.69929272
117nerve growth factor signaling pathway (GO:0038180)2.63911186
118positive regulation of membrane potential (GO:0045838)2.63792617
119neuron remodeling (GO:0016322)2.63426875
120regulation of respiratory gaseous exchange (GO:0043576)2.63416087
121positive regulation of neurological system process (GO:0031646)2.63202180
122startle response (GO:0001964)2.60860025
123negative regulation of synaptic transmission (GO:0050805)2.59635156
124apical protein localization (GO:0045176)2.58211068
125asymmetric protein localization (GO:0008105)2.57908235

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.17471094
2GBX2_23144817_ChIP-Seq_PC3_Human3.91122433
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.78275182
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.75559165
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.75380826
6* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.39480488
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.39157260
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.38934587
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.38934587
10EED_16625203_ChIP-ChIP_MESCs_Mouse2.35407820
11AR_21572438_ChIP-Seq_LNCaP_Human2.30774668
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.26467564
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.24057229
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.19408821
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.17794499
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.13979573
17DROSHA_22980978_ChIP-Seq_HELA_Human2.11370671
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10443367
19* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.10305013
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.09986268
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.04618351
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.02813267
23REST_21632747_ChIP-Seq_MESCs_Mouse2.02039362
24* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.95001371
25* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.94011657
26* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.92934094
27* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81031135
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.80659845
29PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.79011520
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.75814077
31CBX2_27304074_Chip-Seq_ESCs_Mouse1.74057881
32* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.70206341
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69320008
34TAF15_26573619_Chip-Seq_HEK293_Human1.68679171
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67971478
36SMAD4_21799915_ChIP-Seq_A2780_Human1.67886451
37OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.66080567
38* P300_19829295_ChIP-Seq_ESCs_Human1.64298167
39POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61166422
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.57473167
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.57467871
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.57442613
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.56868179
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52989268
45IGF1R_20145208_ChIP-Seq_DFB_Human1.52755095
46* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.52706957
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.51145388
48STAT3_23295773_ChIP-Seq_U87_Human1.46664100
49VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.45850883
50RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.44999627
51* REST_18959480_ChIP-ChIP_MESCs_Mouse1.44406684
52CDX2_19796622_ChIP-Seq_MESCs_Mouse1.41211066
53FUS_26573619_Chip-Seq_HEK293_Human1.40315659
54ER_23166858_ChIP-Seq_MCF-7_Human1.39082869
55EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.38580003
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37988811
57AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.30283005
58SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.29744423
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29533174
60* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29407697
61NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29272118
62PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.27900720
63ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27294184
64TCF4_23295773_ChIP-Seq_U87_Human1.26915131
65CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.25925975
66TP53_16413492_ChIP-PET_HCT116_Human1.25335201
67SOX2_21211035_ChIP-Seq_LN229_Gbm1.25153157
68AR_25329375_ChIP-Seq_VCAP_Human1.24214507
69* NANOG_18555785_Chip-Seq_ESCs_Mouse1.24104532
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22475093
71TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21345982
72* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21223334
73OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.20827225
74* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20645944
75* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20645944
76* RING1B_27294783_Chip-Seq_ESCs_Mouse1.19599378
77VDR_22108803_ChIP-Seq_LS180_Human1.18780384
78NR3C1_21868756_ChIP-Seq_MCF10A_Human1.17917507
79RNF2_27304074_Chip-Seq_NSC_Mouse1.16821375
80TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.15947100
81GATA1_26923725_Chip-Seq_HPCs_Mouse1.15585709
82* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.15395679
83CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15221747
84* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14336532
85BMI1_23680149_ChIP-Seq_NPCS_Mouse1.13579385
86* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12439971
87* E2F1_18555785_Chip-Seq_ESCs_Mouse1.12313574
88* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12005100
89* RUNX2_22187159_ChIP-Seq_PCA_Human1.11529364
90NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11286800
91WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10920062
92IKZF1_21737484_ChIP-ChIP_HCT116_Human1.10869947
93RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10138073
94ERG_21242973_ChIP-ChIP_JURKAT_Human1.09055768
95P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08841350
96* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08762251
97AR_19668381_ChIP-Seq_PC3_Human1.08214827
98* CMYC_18555785_Chip-Seq_ESCs_Mouse1.07995341
99* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07414553
100* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06452181
101* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06330772
102RING1B_27294783_Chip-Seq_NPCs_Mouse1.05309180
103* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04009412
104* P53_22387025_ChIP-Seq_ESCs_Mouse1.03292231
105ARNT_22903824_ChIP-Seq_MCF-7_Human1.03142407
106* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.01507200
107TP53_18474530_ChIP-ChIP_U2OS_Human1.00844722
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.99980787
109AHR_22903824_ChIP-Seq_MCF-7_Human0.98384539
110* PRDM14_20953172_ChIP-Seq_ESCs_Human0.98351465
111CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97943984
112* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96747891
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.94971178
114* ISL1_27105846_Chip-Seq_CPCs_Mouse0.93994292
115SMAD3_21741376_ChIP-Seq_ESCs_Human0.93660247
116* P300_18555785_Chip-Seq_ESCs_Mouse0.93298018
117CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93102866
118STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.92013974
119KDM2B_26808549_Chip-Seq_REH_Human0.92007318
120SOX9_26525672_Chip-Seq_HEART_Mouse0.91244056
121KDM2B_26808549_Chip-Seq_K562_Human0.88198225
122WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88155150

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.13443021
2MP0004859_abnormal_synaptic_plasticity4.06908995
3MP0005423_abnormal_somatic_nervous3.14058097
4MP0003635_abnormal_synaptic_transmissio3.06529488
5MP0001486_abnormal_startle_reflex2.99453338
6MP0002064_seizures2.80309862
7MP0009745_abnormal_behavioral_response2.76135339
8MP0004270_analgesia2.75892390
9MP0009046_muscle_twitch2.72765310
10MP0003136_yellow_coat_color2.64142357
11MP0002272_abnormal_nervous_system2.55786261
12MP0000920_abnormal_myelination2.54097148
13MP0004742_abnormal_vestibular_system2.47436026
14MP0002063_abnormal_learning/memory/cond2.44563273
15MP0004885_abnormal_endolymph2.40522896
16MP0003690_abnormal_glial_cell2.35466193
17MP0000778_abnormal_nervous_system2.30741517
18MP0002572_abnormal_emotion/affect_behav2.30295654
19MP0005171_absent_coat_pigmentation2.17864772
20MP0002653_abnormal_ependyma_morphology2.16325026
21MP0002734_abnormal_mechanical_nocicepti2.15615474
22MP0001968_abnormal_touch/_nociception2.07229057
23MP0005646_abnormal_pituitary_gland2.04868411
24MP0001440_abnormal_grooming_behavior2.03821101
25MP0004142_abnormal_muscle_tone2.02791070
26MP0002067_abnormal_sensory_capabilities1.99802673
27MP0003122_maternal_imprinting1.96559516
28MP0001485_abnormal_pinna_reflex1.95463514
29MP0001502_abnormal_circadian_rhythm1.91381566
30MP0004858_abnormal_nervous_system1.74526712
31MP0005551_abnormal_eye_electrophysiolog1.74171206
32MP0003329_amyloid_beta_deposits1.71732759
33MP0008569_lethality_at_weaning1.70574976
34MP0002736_abnormal_nociception_after1.69642034
35MP0003634_abnormal_glial_cell1.67421996
36MP0005645_abnormal_hypothalamus_physiol1.67110929
37MP0002557_abnormal_social/conspecific_i1.66693324
38MP0000955_abnormal_spinal_cord1.58395169
39MP0001970_abnormal_pain_threshold1.56482481
40MP0002184_abnormal_innervation1.54546566
41MP0001501_abnormal_sleep_pattern1.51164441
42MP0002882_abnormal_neuron_morphology1.51043159
43MP0001529_abnormal_vocalization1.49803450
44MP0002733_abnormal_thermal_nociception1.47628176
45MP0002735_abnormal_chemical_nociception1.46190304
46MP0001905_abnormal_dopamine_level1.42923260
47MP0003950_abnormal_plasma_membrane1.42550259
48MP0005386_behavior/neurological_phenoty1.42255869
49MP0004924_abnormal_behavior1.42255869
50MP0003633_abnormal_nervous_system1.41054815
51MP0001188_hyperpigmentation1.40329850
52MP0001984_abnormal_olfaction1.39816409
53MP0010030_abnormal_orbit_morphology1.38464800
54MP0001963_abnormal_hearing_physiology1.37285340
55MP0002229_neurodegeneration1.36516405
56MP0002066_abnormal_motor_capabilities/c1.36294447
57MP0003632_abnormal_nervous_system1.36124822
58MP0009780_abnormal_chondrocyte_physiolo1.33776534
59MP0003631_nervous_system_phenotype1.33271891
60MP0005248_abnormal_Harderian_gland1.28694940
61MP0001299_abnormal_eye_distance/1.28669092
62MP0000631_abnormal_neuroendocrine_gland1.27284646
63MP0005409_darkened_coat_color1.21999180
64MP0006276_abnormal_autonomic_nervous1.18850056
65MP0000566_synostosis1.18184493
66MP0002752_abnormal_somatic_nervous1.16910518
67MP0004145_abnormal_muscle_electrophysio1.16482171
68MP0005167_abnormal_blood-brain_barrier1.15578820
69MP0002152_abnormal_brain_morphology1.15424061
70MP0004134_abnormal_chest_morphology1.14563554
71MP0005253_abnormal_eye_physiology1.13351913
72MP0004811_abnormal_neuron_physiology1.08908401
73MP0005499_abnormal_olfactory_system1.08419988
74MP0005394_taste/olfaction_phenotype1.08419988
75MP0002638_abnormal_pupillary_reflex1.08187011
76MP0003879_abnormal_hair_cell1.06424178
77MP0000026_abnormal_inner_ear1.05771196
78MP0009379_abnormal_foot_pigmentation1.04940879
79MP0006072_abnormal_retinal_apoptosis1.03100476
80MP0006292_abnormal_olfactory_placode1.00554501
81MP0001346_abnormal_lacrimal_gland1.00245937
82MP0001177_atelectasis1.00075065
83MP0002822_catalepsy0.97272500
84MP0002090_abnormal_vision0.93194003
85MP0003121_genomic_imprinting0.89869102
86MP0000579_abnormal_nail_morphology0.89351572
87MP0003787_abnormal_imprinting0.88576069
88MP0008789_abnormal_olfactory_epithelium0.87562662
89MP0009278_abnormal_bone_marrow0.86476400
90MP0005195_abnormal_posterior_eye0.85139490
91MP0003938_abnormal_ear_development0.83810906
92MP0003878_abnormal_ear_physiology0.83767270
93MP0005377_hearing/vestibular/ear_phenot0.83767270
94MP0003283_abnormal_digestive_organ0.82647101
95MP0004130_abnormal_muscle_cell0.81930251
96MP0004133_heterotaxia0.80781367
97MP0003137_abnormal_impulse_conducting0.79721220
98MP0002909_abnormal_adrenal_gland0.78875487
99MP0000462_abnormal_digestive_system0.77165717
100MP0000049_abnormal_middle_ear0.76154724
101MP0002069_abnormal_eating/drinking_beha0.73137268
102MP0003937_abnormal_limbs/digits/tail_de0.72466497
103MP0005379_endocrine/exocrine_gland_phen0.70752773
104MP0002233_abnormal_nose_morphology0.70648035
105MP0005623_abnormal_meninges_morphology0.68936131
106MP0001986_abnormal_taste_sensitivity0.68095937
107MP0003861_abnormal_nervous_system0.66693579
108MP0005410_abnormal_fertilization0.65943859
109MP0010386_abnormal_urinary_bladder0.65219997
110MP0010678_abnormal_skin_adnexa0.64972291
111MP0004043_abnormal_pH_regulation0.64947978
112MP0001293_anophthalmia0.64305812
113MP0004085_abnormal_heartbeat0.64099921
114MP0000534_abnormal_ureter_morphology0.62986130
115MP0001943_abnormal_respiration0.61458889
116MP0010769_abnormal_survival0.60629535
117MP0005187_abnormal_penis_morphology0.60497573
118MP0004147_increased_porphyrin_level0.59839714
119MP0002102_abnormal_ear_morphology0.58272499
120MP0004233_abnormal_muscle_weight0.57690751
121MP0000751_myopathy0.57128748
122MP0002249_abnormal_larynx_morphology0.57109875
123MP0009250_abnormal_appendicular_skeleto0.56821015
124MP0004215_abnormal_myocardial_fiber0.56220036

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.40007940
2Degeneration of the lateral corticospinal tracts (HP:0002314)4.14518003
3Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.14518003
4Epileptic encephalopathy (HP:0200134)4.03751864
5Neurofibrillary tangles (HP:0002185)4.00425504
6Myokymia (HP:0002411)3.85182206
7Focal seizures (HP:0007359)3.64303217
8Abnormality of the corticospinal tract (HP:0002492)3.53107443
9Supranuclear gaze palsy (HP:0000605)3.44769493
10Febrile seizures (HP:0002373)3.36558453
11Aplasia involving bones of the extremities (HP:0009825)3.34617406
12Aplasia involving bones of the upper limbs (HP:0009823)3.34617406
13Aplasia of the phalanges of the hand (HP:0009802)3.34617406
14Parakeratosis (HP:0001036)3.33748162
15Megalencephaly (HP:0001355)3.22257419
16Hyperventilation (HP:0002883)3.20346305
17Progressive cerebellar ataxia (HP:0002073)3.15819911
18Action tremor (HP:0002345)3.01870194
19Hemiparesis (HP:0001269)2.95609838
20Atonic seizures (HP:0010819)2.92399379
21Cerebral inclusion bodies (HP:0100314)2.85584256
22Septo-optic dysplasia (HP:0100842)2.83296765
23Peripheral hypomyelination (HP:0007182)2.82158068
24Dysmetria (HP:0001310)2.75176237
25Dysdiadochokinesis (HP:0002075)2.73724042
26Insidious onset (HP:0003587)2.70692951
27Termporal pattern (HP:0011008)2.70692951
28Abnormality of the 4th metacarpal (HP:0010012)2.65383936
29Scanning speech (HP:0002168)2.62130377
30Broad-based gait (HP:0002136)2.61618311
31Intention tremor (HP:0002080)2.61377727
32Spastic gait (HP:0002064)2.60007741
33Oligodactyly (hands) (HP:0001180)2.58633551
34Absent septum pellucidum (HP:0001331)2.54863919
35Alacrima (HP:0000522)2.52976309
36Dialeptic seizures (HP:0011146)2.51787962
37Abnormality of the diencephalon (HP:0010662)2.47642420
38Gaze-evoked nystagmus (HP:0000640)2.39764164
39Oligodactyly (HP:0012165)2.38757761
40Status epilepticus (HP:0002133)2.37687346
41Absence seizures (HP:0002121)2.37644472
42Generalized tonic-clonic seizures (HP:0002069)2.35914101
43Truncal ataxia (HP:0002078)2.34113766
44Thickened helices (HP:0000391)2.33368240
45Pheochromocytoma (HP:0002666)2.31297544
46Clumsiness (HP:0002312)2.30638440
47Fibular hypoplasia (HP:0003038)2.30053548
48Diplopia (HP:0000651)2.28288801
49Abnormality of binocular vision (HP:0011514)2.28288801
50Absent speech (HP:0001344)2.27853831
51Akinesia (HP:0002304)2.26361259
52Postural instability (HP:0002172)2.26121889
53Mixed hearing impairment (HP:0000410)2.22229650
54Sleep apnea (HP:0010535)2.22037896
55Abnormality of cochlea (HP:0000375)2.21679157
56Abnormality of the parathyroid morphology (HP:0011766)2.20270727
57Lower limb muscle weakness (HP:0007340)2.19896263
58Abnormal eating behavior (HP:0100738)2.18552033
59Decreased lacrimation (HP:0000633)2.18448988
60Retinal dysplasia (HP:0007973)2.17572874
61Ankle clonus (HP:0011448)2.17038382
62Urinary bladder sphincter dysfunction (HP:0002839)2.15778365
63Aqueductal stenosis (HP:0002410)2.15422666
64Anteriorly placed anus (HP:0001545)2.15367595
65Onion bulb formation (HP:0003383)2.14904202
66Obstructive sleep apnea (HP:0002870)2.13550634
67Split foot (HP:0001839)2.13533643
68Blue irides (HP:0000635)2.13525574
69Abnormality of the septum pellucidum (HP:0007375)2.10662612
70Increased circulating renin level (HP:0000848)2.09562160
71Abnormality of the ischium (HP:0003174)2.06722265
72Impaired vibration sensation in the lower limbs (HP:0002166)2.06124972
73Optic nerve hypoplasia (HP:0000609)2.05160460
74Intestinal atresia (HP:0011100)2.04957126
75Cutaneous finger syndactyly (HP:0010554)2.03700047
76Gait imbalance (HP:0002141)2.03127755
77Excessive salivation (HP:0003781)2.01360167
78Drooling (HP:0002307)2.01360167
79Abnormal auditory evoked potentials (HP:0006958)2.00935079
80Amblyopia (HP:0000646)2.00465867
81Annular pancreas (HP:0001734)1.98756978
82Dynein arm defect of respiratory motile cilia (HP:0012255)1.98076878
83Absent/shortened dynein arms (HP:0200106)1.98076878
84Cupped ear (HP:0000378)1.98059510
85Visual hallucinations (HP:0002367)1.97310133
86Vitreoretinal degeneration (HP:0000655)1.96045564
87Relative macrocephaly (HP:0004482)1.94911668
88Esophageal atresia (HP:0002032)1.94348978
89Bowel incontinence (HP:0002607)1.94127742
90Metabolic alkalosis (HP:0200114)1.93733797
91Turricephaly (HP:0000262)1.93556356
92Neuroendocrine neoplasm (HP:0100634)1.91499351
93Abnormality of the axillary hair (HP:0100134)1.91115895
94Abnormality of secondary sexual hair (HP:0009888)1.91115895
95Morphological abnormality of the inner ear (HP:0011390)1.90972564
96Cutaneous syndactyly (HP:0012725)1.90357245
97Thyroid-stimulating hormone excess (HP:0002925)1.89775925
98Depression (HP:0000716)1.88077016
99Hemiplegia (HP:0002301)1.87662547
100Fetal akinesia sequence (HP:0001989)1.85721373
101Synostosis involving the elbow (HP:0003938)1.85021230
102Humeroradial synostosis (HP:0003041)1.85021230
103Slow saccadic eye movements (HP:0000514)1.84324261
104Papilledema (HP:0001085)1.83895871
105Poor eye contact (HP:0000817)1.83768377
106Generalized myoclonic seizures (HP:0002123)1.82381783
107Neonatal short-limb short stature (HP:0008921)1.81804125
108Abnormality of the aortic arch (HP:0012303)1.80079772
109Coronal craniosynostosis (HP:0004440)1.78819546
110Short 4th metacarpal (HP:0010044)1.78187541
111Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.78187541
112Rib fusion (HP:0000902)1.77897521
113Abnormal large intestine physiology (HP:0012700)1.77482329
114Stereotypic behavior (HP:0000733)1.77433455
115Torticollis (HP:0000473)1.76662440
116Abnormal ciliary motility (HP:0012262)1.76516630
117Impaired social interactions (HP:0000735)1.75658587
118Abnormal social behavior (HP:0012433)1.75658587
119Widely spaced teeth (HP:0000687)1.73254147
120Trigonocephaly (HP:0000243)1.73233989
121Intellectual disability, moderate (HP:0002342)1.73188870
122Morphological abnormality of the pyramidal tract (HP:0002062)1.71947095
123Genetic anticipation (HP:0003743)1.70546229
124Urinary urgency (HP:0000012)1.70186462
125Abolished electroretinogram (ERG) (HP:0000550)1.69717150
126Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.68878168
127Hypoplastic left heart (HP:0004383)1.68875727
128Anxiety (HP:0000739)1.68809580
129High anterior hairline (HP:0009890)1.68609914
130Chin dimple (HP:0010751)1.68495354
131Anophthalmia (HP:0000528)1.67473488
132Specific learning disability (HP:0001328)1.66659262
133Polyphagia (HP:0002591)1.66192634
134Hypoplasia of the ulna (HP:0003022)1.66192071
135Epileptiform EEG discharges (HP:0011182)1.64786327
136Progressive inability to walk (HP:0002505)1.63948961
137Hypoplasia of the corpus callosum (HP:0002079)1.62736852
138Bronchomalacia (HP:0002780)1.62285716
139Spastic tetraplegia (HP:0002510)1.61417704
140Hypoplastic pelvis (HP:0008839)1.61256099
141EEG with generalized epileptiform discharges (HP:0011198)1.60678103
142Limb dystonia (HP:0002451)1.60374683
143Tetraplegia (HP:0002445)1.59605263

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK4.26699997
2CASK4.15808533
3STK392.65483513
4EPHA42.60755005
5MARK12.56779958
6NTRK22.48834405
7NTRK32.45838825
8OXSR12.24927266
9PKN12.17028095
10TYRO32.14862555
11MAPK132.12123717
12MUSK1.93625415
13PHKG21.85886961
14PHKG11.85886961
15MAP3K41.79733495
16PAK61.76631468
17MAP2K71.70001447
18SGK4941.68593119
19SGK2231.68593119
20UHMK11.62913221
21NTRK11.58957670
22PRPF4B1.53291274
23PRKD31.52898814
24FES1.40954149
25MAP3K91.39908238
26NEK61.36028146
27EPHB21.35337535
28MINK11.33175808
29EPHB11.30878988
30ICK1.29332682
31BCR1.29040050
32MAPKAPK51.27048468
33FGFR21.22976831
34FGR1.13723544
35CDK51.13433735
36WNK11.10825934
37MARK21.07693996
38CDK191.06938582
39PNCK1.03290348
40CAMK2A1.02660564
41SGK21.02274959
42DAPK21.00862050
43PAK30.95516154
44ERBB40.95115145
45ROCK20.94200856
46PLK20.94022953
47IRAK20.93956386
48MAP3K130.92696254
49SIK20.92435210
50RIPK10.90767273
51CAMK2B0.87596783
52PRKCE0.87297869
53SIK10.86221311
54PRKCG0.84801436
55INSRR0.83208365
56CSNK1G20.79775041
57LATS20.78691663
58MAPK100.78086412
59LMTK20.77002480
60CAMK2D0.74415956
61CAMK40.73324073
62MAP2K40.72435368
63DYRK1A0.71105981
64SGK30.69671379
65BMPR20.69607776
66SGK10.66876361
67SIK30.66611605
68CDK150.66038775
69CAMK2G0.65533787
70ERBB20.64690495
71BMX0.64252979
72MAPK150.64059915
73CDK140.63879495
74CDK180.63745799
75ARAF0.63149945
76CAMKK20.62753558
77KSR10.62252590
78DYRK20.61662471
79WNK40.60153385
80PRKCH0.60128872
81PBK0.59874529
82PRKCQ0.59628063
83BMPR1B0.58126245
84ROCK10.57790453
85PRKG10.56826628
86WNK30.56347281
87CDK30.56104478
88TNK20.55800776
89CSNK1A1L0.55110793
90KSR20.54724035
91CDK11A0.54623404
92CSNK1G30.54542113
93ADRBK20.53718032
94BRD40.53643045
95YES10.53633514
96CAMK1G0.52808142
97CAMK1D0.52591225
98STK380.52568496
99PINK10.52227157
100PRKCZ0.51276682
101MOS0.50126530
102CAMKK10.49966034
103CLK10.48869044
104RET0.48488002
105RAF10.47958031
106AKT30.46252139
107FYN0.45965804
108CSNK1D0.45414037
109PRKD10.45279550
110CDC42BPA0.45195333
111PDGFRB0.44286759
112CAMK10.43679526
113DMPK0.43620527
114STK110.43342747
115PIK3CA0.42956684
116RPS6KA30.42692631
117GRK50.41843623
118MAP3K70.41759873
119CSNK1A10.40282895
120PRKACA0.39525037
121MKNK20.39255665
122MAPK120.37029349
123DYRK1B0.34792850
124STK38L0.34576346
125PRKDC0.34552004
126GSK3B0.31135102
127PRKCA0.30803073
128CSNK1E0.30528677

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.36871986
2GABAergic synapse_Homo sapiens_hsa047272.72338480
3Glutamatergic synapse_Homo sapiens_hsa047242.64215389
4Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.48732731
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41812878
6Morphine addiction_Homo sapiens_hsa050322.39354296
7Synaptic vesicle cycle_Homo sapiens_hsa047212.24075178
8Circadian entrainment_Homo sapiens_hsa047132.17988008
9Steroid biosynthesis_Homo sapiens_hsa001002.04908726
10Salivary secretion_Homo sapiens_hsa049701.83972815
11Axon guidance_Homo sapiens_hsa043601.77055310
12Serotonergic synapse_Homo sapiens_hsa047261.74723901
13Olfactory transduction_Homo sapiens_hsa047401.68492555
14Long-term depression_Homo sapiens_hsa047301.67684246
15Cholinergic synapse_Homo sapiens_hsa047251.65237457
16Nitrogen metabolism_Homo sapiens_hsa009101.64901971
17Ether lipid metabolism_Homo sapiens_hsa005651.64274802
18Gastric acid secretion_Homo sapiens_hsa049711.58152824
19Insulin secretion_Homo sapiens_hsa049111.58145587
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.56847085
21Fatty acid elongation_Homo sapiens_hsa000621.56457314
22Long-term potentiation_Homo sapiens_hsa047201.54213060
23Dopaminergic synapse_Homo sapiens_hsa047281.53243931
24Taste transduction_Homo sapiens_hsa047421.52198164
25Amphetamine addiction_Homo sapiens_hsa050311.43334563
26Fatty acid biosynthesis_Homo sapiens_hsa000611.42668205
27Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.40573528
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37116024
29Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.35003599
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.33762183
31Cocaine addiction_Homo sapiens_hsa050301.32867876
32Renin secretion_Homo sapiens_hsa049241.32345027
33Calcium signaling pathway_Homo sapiens_hsa040201.31674908
34Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.25131503
35Collecting duct acid secretion_Homo sapiens_hsa049661.23337769
36Bile secretion_Homo sapiens_hsa049761.18376750
37Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.16607821
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.16462943
39Oxytocin signaling pathway_Homo sapiens_hsa049211.14086238
40cAMP signaling pathway_Homo sapiens_hsa040241.10304616
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.09974216
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06035669
43ErbB signaling pathway_Homo sapiens_hsa040121.04863681
44Dorso-ventral axis formation_Homo sapiens_hsa043201.03613929
45Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.03206710
46Aldosterone synthesis and secretion_Homo sapiens_hsa049251.02942724
47Gap junction_Homo sapiens_hsa045401.01762195
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.99851587
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.99764281
50Phototransduction_Homo sapiens_hsa047440.99665130
51Hippo signaling pathway_Homo sapiens_hsa043900.98012299
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96922447
53Sphingolipid metabolism_Homo sapiens_hsa006000.94829108
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.94493436
55Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.93694278
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.93462879
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92307494
58GnRH signaling pathway_Homo sapiens_hsa049120.90081628
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89184043
60Phosphatidylinositol signaling system_Homo sapiens_hsa040700.88955510
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86852869
62Circadian rhythm_Homo sapiens_hsa047100.86347111
63cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83863095
64Renal cell carcinoma_Homo sapiens_hsa052110.83376542
65Choline metabolism in cancer_Homo sapiens_hsa052310.82047159
66Type II diabetes mellitus_Homo sapiens_hsa049300.80586172
67Ras signaling pathway_Homo sapiens_hsa040140.79870129
68Melanogenesis_Homo sapiens_hsa049160.79155001
69Notch signaling pathway_Homo sapiens_hsa043300.78885252
70Pancreatic secretion_Homo sapiens_hsa049720.77809610
71Vitamin B6 metabolism_Homo sapiens_hsa007500.76879748
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.76188248
73beta-Alanine metabolism_Homo sapiens_hsa004100.75981836
74Cardiac muscle contraction_Homo sapiens_hsa042600.75682172
75Vibrio cholerae infection_Homo sapiens_hsa051100.72768277
76Ovarian steroidogenesis_Homo sapiens_hsa049130.72343594
77Glioma_Homo sapiens_hsa052140.72050638
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72023960
79Estrogen signaling pathway_Homo sapiens_hsa049150.70119870
80Mineral absorption_Homo sapiens_hsa049780.65250491
81Sulfur relay system_Homo sapiens_hsa041220.63775233
82Histidine metabolism_Homo sapiens_hsa003400.62953239
83Butanoate metabolism_Homo sapiens_hsa006500.62521510
84MAPK signaling pathway_Homo sapiens_hsa040100.62520292
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62234323
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62063660
87Dilated cardiomyopathy_Homo sapiens_hsa054140.61691035
88Arginine and proline metabolism_Homo sapiens_hsa003300.60755132
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.59885154
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57212968
91Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.56460963
92Fatty acid metabolism_Homo sapiens_hsa012120.55412714
93Alcoholism_Homo sapiens_hsa050340.55106524
94Wnt signaling pathway_Homo sapiens_hsa043100.54321264
95Hedgehog signaling pathway_Homo sapiens_hsa043400.53849977
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.52098068
97Tight junction_Homo sapiens_hsa045300.47648269
98Thyroid hormone synthesis_Homo sapiens_hsa049180.46472355
99Endometrial cancer_Homo sapiens_hsa052130.46208298
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46184380
101alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.46163782
102Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45618909
103Rheumatoid arthritis_Homo sapiens_hsa053230.44775971
104Rap1 signaling pathway_Homo sapiens_hsa040150.44063056
105Glycerolipid metabolism_Homo sapiens_hsa005610.43845043
106VEGF signaling pathway_Homo sapiens_hsa043700.43774726
107Basal cell carcinoma_Homo sapiens_hsa052170.43575254
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42929743
109Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42786067
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41312337
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40206430
112Inositol phosphate metabolism_Homo sapiens_hsa005620.39321440
113Prion diseases_Homo sapiens_hsa050200.38246767
114Glycosaminoglycan degradation_Homo sapiens_hsa005310.37386870
115Glucagon signaling pathway_Homo sapiens_hsa049220.36663481
116Oocyte meiosis_Homo sapiens_hsa041140.36426275
117Colorectal cancer_Homo sapiens_hsa052100.35468642
118Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35091588
119PPAR signaling pathway_Homo sapiens_hsa033200.34602926
120Melanoma_Homo sapiens_hsa052180.33535776
121Endocytosis_Homo sapiens_hsa041440.32903880
122Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32749412

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