TSPAN5

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 transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.47375281
2synaptic vesicle exocytosis (GO:0016079)5.07969398
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.04473121
4vocalization behavior (GO:0071625)5.01617387
5synaptic vesicle maturation (GO:0016188)5.00577260
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.90322925
7glutamate secretion (GO:0014047)4.74860999
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.72635896
9regulation of synaptic vesicle exocytosis (GO:2000300)4.68300075
10locomotory exploration behavior (GO:0035641)4.65628524
11neuron cell-cell adhesion (GO:0007158)4.61500990
12neuronal action potential propagation (GO:0019227)4.58693093
13protein localization to synapse (GO:0035418)4.40745324
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.40698826
15regulation of glutamate receptor signaling pathway (GO:1900449)4.34243005
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.24899134
17regulation of synaptic vesicle transport (GO:1902803)4.09485209
18glutamate receptor signaling pathway (GO:0007215)4.04777427
19pyrimidine nucleobase catabolic process (GO:0006208)4.04154871
20regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.00348665
21regulation of long-term neuronal synaptic plasticity (GO:0048169)3.99421593
22regulation of neuronal synaptic plasticity (GO:0048168)3.97080608
23synaptic transmission, glutamatergic (GO:0035249)3.96399528
24presynaptic membrane assembly (GO:0097105)3.92462422
25neurotransmitter secretion (GO:0007269)3.84834261
26cerebral cortex radially oriented cell migration (GO:0021799)3.83711463
27negative regulation of synaptic transmission, GABAergic (GO:0032229)3.82886247
28exploration behavior (GO:0035640)3.82355302
29neuron-neuron synaptic transmission (GO:0007270)3.82099452
30cellular potassium ion homeostasis (GO:0030007)3.78077733
31layer formation in cerebral cortex (GO:0021819)3.77738995
32presynaptic membrane organization (GO:0097090)3.77562480
33gamma-aminobutyric acid transport (GO:0015812)3.75283654
34dendritic spine morphogenesis (GO:0060997)3.71994352
35neurotransmitter-gated ion channel clustering (GO:0072578)3.69171603
36positive regulation of synapse assembly (GO:0051965)3.66730663
37gamma-aminobutyric acid signaling pathway (GO:0007214)3.65509895
38neuron recognition (GO:0008038)3.62741883
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.60783615
40positive regulation of membrane potential (GO:0045838)3.58127255
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.56881167
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.55556965
43postsynaptic membrane organization (GO:0001941)3.52499981
44positive regulation of synapse maturation (GO:0090129)3.49298472
45long-term memory (GO:0007616)3.46509390
46central nervous system projection neuron axonogenesis (GO:0021952)3.44325841
47long-term synaptic potentiation (GO:0060291)3.42742737
48regulation of postsynaptic membrane potential (GO:0060078)3.41071132
49regulation of synaptic plasticity (GO:0048167)3.37838896
50regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.29555266
51regulation of synapse structural plasticity (GO:0051823)3.28301834
52regulation of vesicle fusion (GO:0031338)3.24859672
53axonal fasciculation (GO:0007413)3.23546844
54proline transport (GO:0015824)3.23387989
55neurotransmitter transport (GO:0006836)3.21986672
56regulation of neurotransmitter secretion (GO:0046928)3.20637191
57amino acid import (GO:0043090)3.18362611
58axon extension (GO:0048675)3.15762716
59regulation of dendritic spine morphogenesis (GO:0061001)3.15392609
60detection of calcium ion (GO:0005513)3.10874258
61chemosensory behavior (GO:0007635)3.10617802
62transmission of nerve impulse (GO:0019226)3.10288330
63regulation of synaptic transmission, glutamatergic (GO:0051966)3.08947638
64neuron projection extension (GO:1990138)3.07607509
65cerebellar Purkinje cell differentiation (GO:0021702)3.06361069
66sodium ion export (GO:0071436)3.06340652
67innervation (GO:0060384)3.05665572
68positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.05596314
69positive regulation of dendritic spine development (GO:0060999)3.05466647
70central nervous system myelination (GO:0022010)3.04442027
71axon ensheathment in central nervous system (GO:0032291)3.04442027
72synaptic vesicle endocytosis (GO:0048488)3.03444752
73nucleobase catabolic process (GO:0046113)3.03261541
74startle response (GO:0001964)3.01352531
75G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.00303566
76positive regulation of dendritic spine morphogenesis (GO:0061003)2.99906328
77auditory behavior (GO:0031223)2.98262124
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.97882750
79activation of protein kinase A activity (GO:0034199)2.97357647
80regulation of synapse assembly (GO:0051963)2.97083006
81dendritic spine organization (GO:0097061)2.95873769
82cerebellar granule cell differentiation (GO:0021707)2.94642211
83learning (GO:0007612)2.94044421
84dendrite morphogenesis (GO:0048813)2.93021055
85positive regulation of synaptic transmission, GABAergic (GO:0032230)2.91762808
86membrane depolarization (GO:0051899)2.91605141
87synapse assembly (GO:0007416)2.91436659
88regulation of neurotransmitter transport (GO:0051588)2.91161912
89retinal cone cell development (GO:0046549)2.87867070
90G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.86971945
91membrane hyperpolarization (GO:0060081)2.85770038
92regulation of neurotransmitter levels (GO:0001505)2.85290259
93regulation of neurotransmitter uptake (GO:0051580)2.83770682
94positive regulation of neurotransmitter secretion (GO:0001956)2.83634418
95response to gravity (GO:0009629)2.83598653
96response to histamine (GO:0034776)2.82705083
97mechanosensory behavior (GO:0007638)2.82506658
98regulation of synaptic transmission (GO:0050804)2.82056253
99positive regulation of synaptic transmission (GO:0050806)2.81969776
100regulation of dendritic spine development (GO:0060998)2.80801282
101long term synaptic depression (GO:0060292)2.80232534
102regulation of respiratory system process (GO:0044065)2.80098287
103response to auditory stimulus (GO:0010996)2.80044532
104negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.79797002
105central nervous system neuron axonogenesis (GO:0021955)2.79622196
106neuromuscular process controlling balance (GO:0050885)2.79138091
107regulation of synaptic transmission, GABAergic (GO:0032228)2.77425860
108synaptic transmission (GO:0007268)2.76816123
109L-amino acid import (GO:0043092)2.76521694
110cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.75186145
111positive regulation of neurotransmitter transport (GO:0051590)2.74351642
112establishment of mitochondrion localization (GO:0051654)2.73670487
113vesicle transport along microtubule (GO:0047496)2.73277352
114membrane depolarization during action potential (GO:0086010)2.72889687
115neuronal ion channel clustering (GO:0045161)2.72552547
116regulation of synapse maturation (GO:0090128)2.71826436
117regulation of synapse organization (GO:0050807)2.70907749
118fear response (GO:0042596)2.70511911
119behavioral defense response (GO:0002209)2.70510028
120regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.69642926
121cell migration in hindbrain (GO:0021535)2.69300552
122negative regulation of neurotransmitter transport (GO:0051589)2.66301421
123membrane assembly (GO:0071709)2.66120072
124behavioral fear response (GO:0001662)2.64273060
125potassium ion homeostasis (GO:0055075)2.60281998
126neuromuscular synaptic transmission (GO:0007274)2.52942991
127glycine transport (GO:0015816)2.49995813
128cerebral cortex cell migration (GO:0021795)2.48393330
129behavioral response to cocaine (GO:0048148)2.46940491

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.88252252
2GBX2_23144817_ChIP-Seq_PC3_Human3.73299273
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11191025
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04559908
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01413968
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62271775
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61139521
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61139521
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57961421
10SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.55254345
11REST_21632747_ChIP-Seq_MESCs_Mouse2.52904576
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.51739555
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.51091442
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46618424
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.44471746
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.31233589
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.23444769
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.19767986
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19428349
20* EZH2_27294783_Chip-Seq_ESCs_Mouse2.15544198
21DROSHA_22980978_ChIP-Seq_HELA_Human2.13033849
22RBPJ_22232070_ChIP-Seq_NCS_Mouse2.11080969
23REST_18959480_ChIP-ChIP_MESCs_Mouse1.99543885
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99058222
25CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94188052
26AR_21572438_ChIP-Seq_LNCaP_Human1.81911976
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77846420
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.70808204
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.68860565
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68854131
31SMAD4_21799915_ChIP-Seq_A2780_Human1.68372971
32TAF15_26573619_Chip-Seq_HEK293_Human1.68244094
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.68088064
34TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64448399
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.61752088
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59398330
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57701009
38P300_19829295_ChIP-Seq_ESCs_Human1.55284106
39EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.51175447
40WT1_19549856_ChIP-ChIP_CCG9911_Human1.47713143
41OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45564865
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.44513566
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.42614850
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.42545388
45VDR_22108803_ChIP-Seq_LS180_Human1.40950247
46ZNF274_21170338_ChIP-Seq_K562_Hela1.40846422
47EP300_21415370_ChIP-Seq_HL-1_Mouse1.40627239
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39603877
49SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39186700
50PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.39098951
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38383123
52* PIAS1_25552417_ChIP-Seq_VCAP_Human1.37401117
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35919857
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.34977494
55SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34397070
56MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.33495751
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.33226163
58POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32607880
59IGF1R_20145208_ChIP-Seq_DFB_Human1.31712823
60AR_25329375_ChIP-Seq_VCAP_Human1.29891893
61STAT3_23295773_ChIP-Seq_U87_Human1.29038100
62ERG_21242973_ChIP-ChIP_JURKAT_Human1.28656315
63SOX2_21211035_ChIP-Seq_LN229_Gbm1.28475082
64GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27472475
65* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27096305
66* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.26395148
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.23235028
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22287659
69CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21836341
70FUS_26573619_Chip-Seq_HEK293_Human1.20867724
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.17512778
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16414627
73SALL1_21062744_ChIP-ChIP_HESCs_Human1.16121541
74KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.15921602
75* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15910600
76* RNF2_27304074_Chip-Seq_NSC_Mouse1.15631653
77LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14358083
78TRIM28_21343339_ChIP-Seq_HEK293_Human1.13425644
79AR_19668381_ChIP-Seq_PC3_Human1.13118100
80ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12707648
81STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.12592915
82GATA1_26923725_Chip-Seq_HPCs_Mouse1.11276429
83RING1B_27294783_Chip-Seq_NPCs_Mouse1.11183077
84TCF4_23295773_ChIP-Seq_U87_Human1.11120663
85* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10715541
86AHR_22903824_ChIP-Seq_MCF-7_Human1.10227121
87* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09812024
88TBX3_20139965_ChIP-Seq_MESCs_Mouse1.09178810
89SOX9_26525672_Chip-Seq_HEART_Mouse1.08662726
90TBX3_20139965_ChIP-Seq_ESCs_Mouse1.08559568
91BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07818802
92CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.07606181
93TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07180944
94* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.06510526
95* KDM2B_26808549_Chip-Seq_REH_Human1.05994349
96* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.05979811
97* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04761810
98TP53_20018659_ChIP-ChIP_R1E_Mouse1.04424091
99RUNX2_22187159_ChIP-Seq_PCA_Human1.04226503
100TP53_18474530_ChIP-ChIP_U2OS_Human1.03801195
101TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.03650495
102P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03603562
103* PRDM14_20953172_ChIP-Seq_ESCs_Human1.03484486
104NRF2_20460467_ChIP-Seq_MEFs_Mouse1.03372198
105NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.03372198
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01800648
107UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01017600
108MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00233605
109* NANOG_18555785_Chip-Seq_ESCs_Mouse0.99524922
110SMAD3_21741376_ChIP-Seq_ESCs_Human0.99356599
111* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98307661
112BCAT_22108803_ChIP-Seq_LS180_Human0.97564364
113* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96998690
114TP53_16413492_ChIP-PET_HCT116_Human0.94300899
115ER_23166858_ChIP-Seq_MCF-7_Human0.94113600
116* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94009308
117SMAD3_21741376_ChIP-Seq_HESCs_Human0.93319176
118* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.92872551
119JUN_21703547_ChIP-Seq_K562_Human0.91303297
120VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91180514
121TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90065485
122POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90065485
123TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89995202
124* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89131702
125RXR_22108803_ChIP-Seq_LS180_Human0.88839993

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.75935457
2MP0003880_abnormal_central_pattern4.55275646
3MP0004270_analgesia4.07690332
4MP0003635_abnormal_synaptic_transmissio3.88505445
5MP0002063_abnormal_learning/memory/cond3.13808137
6MP0009745_abnormal_behavioral_response3.13329907
7MP0002064_seizures2.98098012
8MP0001968_abnormal_touch/_nociception2.96220118
9MP0009046_muscle_twitch2.87039991
10MP0005423_abnormal_somatic_nervous2.74309188
11MP0002734_abnormal_mechanical_nocicepti2.74081866
12MP0002572_abnormal_emotion/affect_behav2.72405381
13MP0002272_abnormal_nervous_system2.59122025
14MP0002736_abnormal_nociception_after2.46148690
15MP0001486_abnormal_startle_reflex2.45787609
16MP0002735_abnormal_chemical_nociception2.35451998
17MP0009780_abnormal_chondrocyte_physiolo2.25023909
18MP0001501_abnormal_sleep_pattern2.11453198
19MP0002733_abnormal_thermal_nociception2.10936140
20MP0001440_abnormal_grooming_behavior2.01756728
21MP0001970_abnormal_pain_threshold2.01109919
22MP0003329_amyloid_beta_deposits1.95274654
23MP0006292_abnormal_olfactory_placode1.94913975
24MP0002067_abnormal_sensory_capabilities1.91626174
25MP0000778_abnormal_nervous_system1.87489151
26MP0008569_lethality_at_weaning1.83651153
27MP0002909_abnormal_adrenal_gland1.76716915
28MP0002184_abnormal_innervation1.76379361
29MP0004147_increased_porphyrin_level1.76082101
30MP0004858_abnormal_nervous_system1.75257396
31MP0002557_abnormal_social/conspecific_i1.68861334
32MP0010386_abnormal_urinary_bladder1.68345761
33MP0000569_abnormal_digit_pigmentation1.66001850
34MP0002822_catalepsy1.64860507
35MP0004885_abnormal_endolymph1.62397067
36MP0008438_abnormal_cutaneous_collagen1.60154570
37MP0004811_abnormal_neuron_physiology1.59059464
38MP0006276_abnormal_autonomic_nervous1.52078548
39MP0001984_abnormal_olfaction1.51242927
40MP0000955_abnormal_spinal_cord1.51120220
41MP0004924_abnormal_behavior1.49469224
42MP0005386_behavior/neurological_phenoty1.49469224
43MP0003879_abnormal_hair_cell1.48091972
44MP0001188_hyperpigmentation1.46141504
45MP0003787_abnormal_imprinting1.45653989
46MP0005646_abnormal_pituitary_gland1.43575275
47MP0002882_abnormal_neuron_morphology1.42627713
48MP0005503_abnormal_tendon_morphology1.41058685
49MP0001958_emphysema1.38685298
50MP0002066_abnormal_motor_capabilities/c1.35327187
51MP0003705_abnormal_hypodermis_morpholog1.29939339
52MP0003633_abnormal_nervous_system1.28517831
53MP0000013_abnormal_adipose_tissue1.27208421
54MP0001529_abnormal_vocalization1.26893177
55MP0000534_abnormal_ureter_morphology1.26889391
56MP0001502_abnormal_circadian_rhythm1.26885557
57MP0005645_abnormal_hypothalamus_physiol1.24621913
58MP0010368_abnormal_lymphatic_system1.19887170
59MP0008789_abnormal_olfactory_epithelium1.19125771
60MP0001905_abnormal_dopamine_level1.18501826
61MP0005551_abnormal_eye_electrophysiolog1.17901802
62MP0004142_abnormal_muscle_tone1.15373883
63MP0004742_abnormal_vestibular_system1.14453846
64MP0010030_abnormal_orbit_morphology1.13348718
65MP0003631_nervous_system_phenotype1.12458537
66MP0000049_abnormal_middle_ear1.12456691
67MP0003283_abnormal_digestive_organ1.11215484
68MP0002152_abnormal_brain_morphology1.07073809
69MP0001986_abnormal_taste_sensitivity1.06910415
70MP0003122_maternal_imprinting1.06682832
71MP0004043_abnormal_pH_regulation1.04710854
72MP0005187_abnormal_penis_morphology1.02204215
73MP0002653_abnormal_ependyma_morphology1.02189661
74MP0003634_abnormal_glial_cell1.02064988
75MP0002229_neurodegeneration1.01950293
76MP0000920_abnormal_myelination1.01775088
77MP0005171_absent_coat_pigmentation1.00863002
78MP0003183_abnormal_peptide_metabolism1.00290693
79MP0009053_abnormal_anal_canal0.97496922
80MP0000566_synostosis0.97203005
81MP0001485_abnormal_pinna_reflex0.94939183
82MP0002638_abnormal_pupillary_reflex0.92537517
83MP0002837_dystrophic_cardiac_calcinosis0.92514163
84MP0006072_abnormal_retinal_apoptosis0.92109934
85MP0001963_abnormal_hearing_physiology0.91324890
86MP0004145_abnormal_muscle_electrophysio0.90815542
87MP0003279_aneurysm0.90309152
88MP0000631_abnormal_neuroendocrine_gland0.89171681
89MP0003385_abnormal_body_wall0.88580797
90MP0002069_abnormal_eating/drinking_beha0.87395756
91MP0003755_abnormal_palate_morphology0.86884212
92MP0003121_genomic_imprinting0.86614024
93MP0003632_abnormal_nervous_system0.86296219
94MP0000428_abnormal_craniofacial_morphol0.85927931
95MP0001879_abnormal_lymphatic_vessel0.85287303
96MP0005257_abnormal_intraocular_pressure0.83531280
97MP0003950_abnormal_plasma_membrane0.82679753
98MP0009250_abnormal_appendicular_skeleto0.82422813
99MP0003942_abnormal_urinary_system0.80748645
100MP0005595_abnormal_vascular_smooth0.80240758
101MP0001177_atelectasis0.79382975
102MP0002752_abnormal_somatic_nervous0.79247599
103MP0000604_amyloidosis0.78945164
104MP0008877_abnormal_DNA_methylation0.77362718
105MP0005499_abnormal_olfactory_system0.77141756
106MP0005394_taste/olfaction_phenotype0.77141756
107MP0003119_abnormal_digestive_system0.76957156
108MP0004085_abnormal_heartbeat0.75611219
109MP0005409_darkened_coat_color0.73635538
110MP0005379_endocrine/exocrine_gland_phen0.73449459
111MP0002751_abnormal_autonomic_nervous0.72971375
112MP0005623_abnormal_meninges_morphology0.71839530
113MP0001299_abnormal_eye_distance/0.71031299
114MP0003690_abnormal_glial_cell0.69993114
115MP0001664_abnormal_digestion0.69947676
116MP0002233_abnormal_nose_morphology0.69497755
117MP0000427_abnormal_hair_cycle0.69348484
118MP0002295_abnormal_pulmonary_circulatio0.68487495
119MP0005535_abnormal_body_temperature0.66639458
120MP0002693_abnormal_pancreas_physiology0.66265780
121MP0005253_abnormal_eye_physiology0.65994223
122MP0002090_abnormal_vision0.65670191
123MP0004484_altered_response_of0.64967077
124MP0000026_abnormal_inner_ear0.61055788
125MP0003075_altered_response_to0.60626868
126MP0002234_abnormal_pharynx_morphology0.60249700
127MP0008961_abnormal_basal_metabolism0.57128335
128MP0008874_decreased_physiological_sensi0.56879299
129MP0001943_abnormal_respiration0.56499795
130MP0002876_abnormal_thyroid_physiology0.56004355
131MP0010234_abnormal_vibrissa_follicle0.55296124
132MP0003861_abnormal_nervous_system0.55247765
133MP0001765_abnormal_ion_homeostasis0.55039125

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.63090207
2Myokymia (HP:0002411)5.54897337
3Focal seizures (HP:0007359)5.23617036
4Visual hallucinations (HP:0002367)5.05939675
5Epileptic encephalopathy (HP:0200134)4.91424178
6Atonic seizures (HP:0010819)4.71228057
7Absence seizures (HP:0002121)4.02204040
8Febrile seizures (HP:0002373)4.02200870
9Progressive cerebellar ataxia (HP:0002073)3.97566232
10Dialeptic seizures (HP:0011146)3.79609939
11Generalized tonic-clonic seizures (HP:0002069)3.64846611
12Supranuclear gaze palsy (HP:0000605)3.43899190
13Action tremor (HP:0002345)3.41130885
14Broad-based gait (HP:0002136)3.37445428
15Hyperventilation (HP:0002883)3.32918504
16Hemiparesis (HP:0001269)3.13941260
17Amblyopia (HP:0000646)3.11245682
18Abnormality of binocular vision (HP:0011514)3.11186685
19Diplopia (HP:0000651)3.11186685
20Ankle clonus (HP:0011448)3.06669294
21Neurofibrillary tangles (HP:0002185)3.06607233
22Truncal ataxia (HP:0002078)3.05989589
23Gaze-evoked nystagmus (HP:0000640)2.97976369
24Cerebral inclusion bodies (HP:0100314)2.97557070
25Dysmetria (HP:0001310)2.93284393
26Dysdiadochokinesis (HP:0002075)2.88300400
27Impaired vibration sensation in the lower limbs (HP:0002166)2.85099149
28Depression (HP:0000716)2.84386715
29Megalencephaly (HP:0001355)2.82045960
30Papilledema (HP:0001085)2.81052136
31Coronal craniosynostosis (HP:0004440)2.76233469
32Poor eye contact (HP:0000817)2.75388289
33Epileptiform EEG discharges (HP:0011182)2.73061755
34Drooling (HP:0002307)2.68757979
35Excessive salivation (HP:0003781)2.68757979
36Abnormal eating behavior (HP:0100738)2.61347357
37Termporal pattern (HP:0011008)2.58213249
38Insidious onset (HP:0003587)2.58213249
39EEG with generalized epileptiform discharges (HP:0011198)2.56939707
40Anxiety (HP:0000739)2.56424102
41Impaired smooth pursuit (HP:0007772)2.53853867
42Shallow orbits (HP:0000586)2.50646037
43Urinary bladder sphincter dysfunction (HP:0002839)2.48726619
44Genetic anticipation (HP:0003743)2.46248532
45Abnormal social behavior (HP:0012433)2.44432459
46Impaired social interactions (HP:0000735)2.44432459
47Absent speech (HP:0001344)2.44328678
48Vascular tortuosity (HP:0004948)2.44212425
49Premature rupture of membranes (HP:0001788)2.43182026
50Hypsarrhythmia (HP:0002521)2.42386263
51Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.41106779
52Follicular hyperkeratosis (HP:0007502)2.40938623
53Neonatal short-limb short stature (HP:0008921)2.40796191
54Scanning speech (HP:0002168)2.39887669
55Protrusio acetabuli (HP:0003179)2.39790434
56Broad metatarsal (HP:0001783)2.34010557
57Abnormality of the corticospinal tract (HP:0002492)2.34003713
58Mutism (HP:0002300)2.33181658
59Hemiplegia (HP:0002301)2.32264642
60Spastic gait (HP:0002064)2.31010554
61Stereotypic behavior (HP:0000733)2.30527617
62Intention tremor (HP:0002080)2.28396642
63Progressive inability to walk (HP:0002505)2.27764460
64Agitation (HP:0000713)2.27490795
65Hypoventilation (HP:0002791)2.26074034
66Abnormality of the lower motor neuron (HP:0002366)2.25442645
67Retinal dysplasia (HP:0007973)2.24021896
68Insomnia (HP:0100785)2.21280513
69Short 4th metacarpal (HP:0010044)2.20441543
70Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.20441543
71Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.19622002
72Degeneration of the lateral corticospinal tracts (HP:0002314)2.19622002
73Pheochromocytoma (HP:0002666)2.15578326
74Postural instability (HP:0002172)2.14966715
75Split foot (HP:0001839)2.14722051
76Urinary urgency (HP:0000012)2.12024067
77Ankle contracture (HP:0006466)2.11727213
78Abnormality of ocular smooth pursuit (HP:0000617)2.10694305
79Arterial tortuosity (HP:0005116)2.08830235
80Gait imbalance (HP:0002141)2.08391846
81Thickened helices (HP:0000391)2.06483022
82Generalized myoclonic seizures (HP:0002123)2.01307586
83Obstructive sleep apnea (HP:0002870)2.01111882
84Bradykinesia (HP:0002067)1.99087729
85Lower limb muscle weakness (HP:0007340)1.97223223
86Bladder diverticulum (HP:0000015)1.95461930
87Soft skin (HP:0000977)1.94919480
88Inability to walk (HP:0002540)1.94210530
89Type II lissencephaly (HP:0007260)1.93699877
90Gait ataxia (HP:0002066)1.93378200
91Protruding tongue (HP:0010808)1.92697945
92Turricephaly (HP:0000262)1.92320900
93Limb dystonia (HP:0002451)1.92131083
94Polyphagia (HP:0002591)1.91537875
95Lissencephaly (HP:0001339)1.91377726
96Neuronal loss in central nervous system (HP:0002529)1.90850652
97Blue irides (HP:0000635)1.90672249
98Sleep apnea (HP:0010535)1.90411756
99Annular pancreas (HP:0001734)1.88680516
100Aplasia involving bones of the upper limbs (HP:0009823)1.88676020
101Aplasia of the phalanges of the hand (HP:0009802)1.88676020
102Aplasia involving bones of the extremities (HP:0009825)1.88676020
103Abnormality of salivation (HP:0100755)1.88130724
104Impaired vibratory sensation (HP:0002495)1.86675204
105Specific learning disability (HP:0001328)1.85621881
106Septo-optic dysplasia (HP:0100842)1.85558793
107Optic nerve hypoplasia (HP:0000609)1.82115751
108Hyperthyroidism (HP:0000836)1.81222959
109Akinesia (HP:0002304)1.80783253
110Spinal rigidity (HP:0003306)1.80710962
111Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.79903290
112Neuroendocrine neoplasm (HP:0100634)1.79107692
113Bowel diverticulosis (HP:0005222)1.78273456
114Hydroureter (HP:0000072)1.75149758
115Torticollis (HP:0000473)1.74982701
116Psychosis (HP:0000709)1.74621119
117Palpebral edema (HP:0100540)1.74589580
118Limb-girdle muscle weakness (HP:0003325)1.73486527
119Focal dystonia (HP:0004373)1.72609143
120Postural tremor (HP:0002174)1.72318743
121Congenital primary aphakia (HP:0007707)1.70330927
122Abnormality of the heme biosynthetic pathway (HP:0010472)1.69944213
123Widely spaced teeth (HP:0000687)1.69616463
124Anterior segment dysgenesis (HP:0007700)1.69598753
125Genu recurvatum (HP:0002816)1.67785098
126Medial flaring of the eyebrow (HP:0010747)1.67205233
127Increased circulating renin level (HP:0000848)1.66364652
128Lower limb asymmetry (HP:0100559)1.66150291
129Pachygyria (HP:0001302)1.65979383
130Aortic dissection (HP:0002647)1.65830645
131Abnormality of dentin (HP:0010299)1.65233396
132Morphological abnormality of the pyramidal tract (HP:0002062)1.65184785
133Peripheral hypomyelination (HP:0007182)1.64083304
134Ventricular fibrillation (HP:0001663)1.63997502
135Hypoplasia of the corpus callosum (HP:0002079)1.63436904
136Vaginal atresia (HP:0000148)1.63344641
137Incomplete penetrance (HP:0003829)1.63203004
138Clonus (HP:0002169)1.62878576
139Hypoplasia of the brainstem (HP:0002365)1.59707972
140Aplasia/Hypoplasia of the brainstem (HP:0007362)1.59707972
141Overgrowth (HP:0001548)1.59052713

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.24089776
2EPHA43.85879261
3MAP3K93.18411733
4MARK12.97645958
5CASK2.94195080
6EPHB22.80449864
7MAP3K42.76700341
8MAP2K72.49333985
9RIPK42.47326505
10DAPK22.44576310
11PRKD32.43242487
12MINK12.33979559
13PAK62.16037814
14NTRK12.02109622
15NTRK21.96259343
16KSR21.90440637
17MAP3K121.85160608
18PLK21.75918238
19MAP3K21.60604156
20GRK51.58332650
21CDK51.56261874
22DAPK11.56188871
23MAP4K21.55757730
24CDK191.53717194
25MAP2K41.51013321
26PNCK1.46984989
27KSR11.44223960
28CAMKK11.40851504
29MAPK131.37457765
30LIMK11.34299770
31BMPR21.33761860
32UHMK11.32457204
33DYRK21.30152493
34CAMKK21.27046491
35ARAF1.26009531
36OXSR11.24526743
37PRPF4B1.22785490
38PRKCG1.19388443
39FES1.11234215
40NEK11.10087815
41CAMK2A1.08382047
42CAMK2B1.07994909
43SGK4941.07977735
44SGK2231.07977735
45TNIK1.03201093
46TYRO31.01080021
47PINK11.00032028
48PTK20.98562012
49PDGFRA0.97160783
50SIK20.96189515
51INSRR0.94119541
52CDK140.91964427
53CDK180.88610043
54PRKCH0.87633508
55TIE10.87019113
56CDK150.86232552
57DYRK1A0.84378147
58STK110.83707442
59PRKCE0.83447674
60NEK20.82780579
61PAK30.80888268
62BCR0.80442603
63STK380.79564724
64MARK20.78732121
65PTK2B0.77923360
66MOS0.74513470
67CAMK40.74470104
68CDK11A0.74287403
69MAP3K10.73852388
70SGK20.73374383
71MET0.71705341
72FGR0.71618429
73AKT30.71329181
74SGK10.71308249
75RET0.69209761
76TSSK60.69199538
77STK390.68055859
78PHKG10.67544702
79PHKG20.67544702
80CSNK1G20.67296466
81FER0.67052364
82CCNB10.66872114
83WNK40.66505183
84WNK30.66444414
85CAMK10.64577470
86BRSK10.64360863
87MAP3K130.63621517
88PLK30.63222695
89WNK10.62341815
90CAMK2D0.61954449
91NME10.61083046
92RAF10.60661752
93FGFR20.60257312
94MAPKAPK50.56882573
95DYRK1B0.56456949
96HIPK20.56265969
97BMPR1B0.56084321
98CAMK1G0.55042014
99LATS20.53889481
100PRKD20.53203986
101BRAF0.52382153
102ROCK10.51097223
103PAK20.50404653
104FYN0.49685880
105ROCK20.49519627
106NEK60.48919943
107SGK30.48233256
108PDPK10.47324163
109PDK10.46282091
110PKN10.46031715
111ADRBK20.44979724
112MAP2K10.44585549
113TRIM280.43776753
114PRKCZ0.43767483
115SCYL20.43096656
116RPS6KA30.43049450
117MAPK150.42979686
118DAPK30.42513892
119FRK0.42506793
120CDK80.42268561
121TAOK10.42223577
122LMTK20.41207733
123DYRK30.41188371
124STK38L0.41057160
125CAMK2G0.40904168
126ADRBK10.40798332
127TESK10.39960158
128MAP3K60.39488367
129CDC42BPA0.39231372
130CSNK1D0.39093628
131MAPK100.38802526
132PDGFRB0.38068430
133BMX0.35025983

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.33318927
2Synaptic vesicle cycle_Homo sapiens_hsa047213.05761063
3Long-term potentiation_Homo sapiens_hsa047202.64278334
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.59107620
5GABAergic synapse_Homo sapiens_hsa047272.55457804
6Circadian entrainment_Homo sapiens_hsa047132.52109195
7Glutamatergic synapse_Homo sapiens_hsa047242.49001901
8Morphine addiction_Homo sapiens_hsa050322.35902489
9Amphetamine addiction_Homo sapiens_hsa050312.31375455
10Insulin secretion_Homo sapiens_hsa049112.27998888
11Olfactory transduction_Homo sapiens_hsa047402.23474587
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10528722
13Dopaminergic synapse_Homo sapiens_hsa047282.07813952
14Salivary secretion_Homo sapiens_hsa049702.05783494
15Taste transduction_Homo sapiens_hsa047421.88512858
16Collecting duct acid secretion_Homo sapiens_hsa049661.85979549
17Gastric acid secretion_Homo sapiens_hsa049711.81618069
18Serotonergic synapse_Homo sapiens_hsa047261.81535712
19Long-term depression_Homo sapiens_hsa047301.80577127
20Cholinergic synapse_Homo sapiens_hsa047251.80120079
21Renin secretion_Homo sapiens_hsa049241.72271353
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.66932945
23Cocaine addiction_Homo sapiens_hsa050301.57125913
24Oxytocin signaling pathway_Homo sapiens_hsa049211.47727910
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.46489966
26Vibrio cholerae infection_Homo sapiens_hsa051101.45438361
27Phototransduction_Homo sapiens_hsa047441.41046995
28Calcium signaling pathway_Homo sapiens_hsa040201.40560325
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.38603124
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38196830
31GnRH signaling pathway_Homo sapiens_hsa049121.32865814
32Gap junction_Homo sapiens_hsa045401.31534479
33Hippo signaling pathway_Homo sapiens_hsa043901.25475346
34Type II diabetes mellitus_Homo sapiens_hsa049301.22419391
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20934365
36cAMP signaling pathway_Homo sapiens_hsa040241.19814799
37Axon guidance_Homo sapiens_hsa043601.18852441
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17509282
39Pancreatic secretion_Homo sapiens_hsa049721.15848982
40Estrogen signaling pathway_Homo sapiens_hsa049151.14881064
41Melanogenesis_Homo sapiens_hsa049161.11402225
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06285783
43Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.05983505
44Glioma_Homo sapiens_hsa052141.04916669
45Basal cell carcinoma_Homo sapiens_hsa052171.04749879
46ErbB signaling pathway_Homo sapiens_hsa040121.01483036
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00069294
48Type I diabetes mellitus_Homo sapiens_hsa049400.98661350
49ECM-receptor interaction_Homo sapiens_hsa045120.96897718
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.96802932
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96629896
52Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.94334606
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.87668822
54Cardiac muscle contraction_Homo sapiens_hsa042600.85289000
55Thyroid hormone synthesis_Homo sapiens_hsa049180.85215361
56Dorso-ventral axis formation_Homo sapiens_hsa043200.85204896
57Focal adhesion_Homo sapiens_hsa045100.83200538
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.77618580
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74426568
60Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73900284
61Vitamin B6 metabolism_Homo sapiens_hsa007500.73136641
62Melanoma_Homo sapiens_hsa052180.72573826
63MAPK signaling pathway_Homo sapiens_hsa040100.70537954
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70203124
65Choline metabolism in cancer_Homo sapiens_hsa052310.69876264
66Ras signaling pathway_Homo sapiens_hsa040140.69409232
67Oocyte meiosis_Homo sapiens_hsa041140.68990142
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.67344765
69Alzheimers disease_Homo sapiens_hsa050100.66524000
70VEGF signaling pathway_Homo sapiens_hsa043700.65923255
71Regulation of actin cytoskeleton_Homo sapiens_hsa048100.65861749
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.65046949
73Adherens junction_Homo sapiens_hsa045200.63215699
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62471124
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59593458
76PI3K-Akt signaling pathway_Homo sapiens_hsa041510.59137262
77Maturity onset diabetes of the young_Homo sapiens_hsa049500.58174943
78Inositol phosphate metabolism_Homo sapiens_hsa005620.57787539
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57687360
80Renal cell carcinoma_Homo sapiens_hsa052110.57375000
81Proteoglycans in cancer_Homo sapiens_hsa052050.56834670
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.55804242
83Rap1 signaling pathway_Homo sapiens_hsa040150.55675698
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55129434
85Wnt signaling pathway_Homo sapiens_hsa043100.55071467
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.54748506
87Dilated cardiomyopathy_Homo sapiens_hsa054140.54374057
88MicroRNAs in cancer_Homo sapiens_hsa052060.53443960
89Protein digestion and absorption_Homo sapiens_hsa049740.53375888
90TGF-beta signaling pathway_Homo sapiens_hsa043500.53304937
91Alcoholism_Homo sapiens_hsa050340.53261484
92Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.53070848
93Rheumatoid arthritis_Homo sapiens_hsa053230.52857853
94Nitrogen metabolism_Homo sapiens_hsa009100.52567178
95Tight junction_Homo sapiens_hsa045300.52491531
96Oxidative phosphorylation_Homo sapiens_hsa001900.52456315
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51228491
98Glucagon signaling pathway_Homo sapiens_hsa049220.49506104
99Circadian rhythm_Homo sapiens_hsa047100.49480138
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.47979130
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47475385
102Endocytosis_Homo sapiens_hsa041440.47141499
103Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46102960
104Pathways in cancer_Homo sapiens_hsa052000.45865261
105Bile secretion_Homo sapiens_hsa049760.45409348
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44378580
107Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40480598
108mTOR signaling pathway_Homo sapiens_hsa041500.40366888
109Endometrial cancer_Homo sapiens_hsa052130.39486642
110Basal transcription factors_Homo sapiens_hsa030220.39484781
111Ether lipid metabolism_Homo sapiens_hsa005650.38226805
112Phagosome_Homo sapiens_hsa041450.37505310
113Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37067156
114Ovarian steroidogenesis_Homo sapiens_hsa049130.36837009
115Sphingolipid metabolism_Homo sapiens_hsa006000.36325877
116African trypanosomiasis_Homo sapiens_hsa051430.36315464
117Mineral absorption_Homo sapiens_hsa049780.36037617
118Chemokine signaling pathway_Homo sapiens_hsa040620.35451100
119Hedgehog signaling pathway_Homo sapiens_hsa043400.32004768
120Non-small cell lung cancer_Homo sapiens_hsa052230.31624946
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31384003
122Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30768140
123Prion diseases_Homo sapiens_hsa050200.30548035
124Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.29364225

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