SPTAN1

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: Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)5.80638286
2synaptic vesicle maturation (GO:0016188)5.67416209
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.65627441
4layer formation in cerebral cortex (GO:0021819)5.17095622
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.09975912
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.95370696
7vocalization behavior (GO:0071625)4.79724060
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.66260096
9glutamate secretion (GO:0014047)4.53135842
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.46569712
11regulation of synaptic vesicle exocytosis (GO:2000300)4.33109944
12synaptic vesicle exocytosis (GO:0016079)4.31628989
13exploration behavior (GO:0035640)4.28500943
14sodium ion export (GO:0071436)4.21074040
15regulation of glutamate receptor signaling pathway (GO:1900449)4.17848569
16regulation of synapse structural plasticity (GO:0051823)4.06996219
17positive regulation of synapse maturation (GO:0090129)3.98671557
18cellular potassium ion homeostasis (GO:0030007)3.95002879
19protein localization to synapse (GO:0035418)3.93070901
20neurotransmitter secretion (GO:0007269)3.91053359
21ionotropic glutamate receptor signaling pathway (GO:0035235)3.90931545
22proline transport (GO:0015824)3.90778951
23establishment of nucleus localization (GO:0040023)3.89674252
24dendritic spine morphogenesis (GO:0060997)3.89343656
25dendrite morphogenesis (GO:0048813)3.84166745
26cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.78239250
27regulation of long-term neuronal synaptic plasticity (GO:0048169)3.72767976
28amino acid import (GO:0043090)3.72616798
29regulation of synaptic vesicle transport (GO:1902803)3.71683395
30activation of protein kinase A activity (GO:0034199)3.71517134
31regulation of neuronal synaptic plasticity (GO:0048168)3.70049565
32L-amino acid import (GO:0043092)3.69187159
33cell communication by electrical coupling (GO:0010644)3.67959600
34gamma-aminobutyric acid transport (GO:0015812)3.62607204
35neuromuscular process controlling balance (GO:0050885)3.58332435
36synaptic transmission, glutamatergic (GO:0035249)3.51638530
37cerebellar Purkinje cell differentiation (GO:0021702)3.49726098
38glutamate receptor signaling pathway (GO:0007215)3.48244665
39neurotransmitter-gated ion channel clustering (GO:0072578)3.44930801
40cell migration in hindbrain (GO:0021535)3.38432292
41cytoskeletal anchoring at plasma membrane (GO:0007016)3.38424096
42neuron cell-cell adhesion (GO:0007158)3.38421178
43neuronal ion channel clustering (GO:0045161)3.34926193
44long-term memory (GO:0007616)3.34811423
45regulation of dendritic spine morphogenesis (GO:0061001)3.33328030
46membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.32467254
47neuronal action potential propagation (GO:0019227)3.31538085
48axonal fasciculation (GO:0007413)3.24938881
49cerebellar granule cell differentiation (GO:0021707)3.24869873
50regulation of ARF protein signal transduction (GO:0032012)3.22918028
51neuron recognition (GO:0008038)3.18659167
52neuron-neuron synaptic transmission (GO:0007270)3.17590874
53regulation of excitatory postsynaptic membrane potential (GO:0060079)3.17274089
54vesicle transport along microtubule (GO:0047496)3.15111030
55regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.15088963
56regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.13702780
57positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.10224492
58clathrin coat assembly (GO:0048268)3.08172625
59innervation (GO:0060384)3.07398450
60positive regulation of membrane potential (GO:0045838)3.05312481
61regulation of postsynaptic membrane potential (GO:0060078)3.04854182
62organelle transport along microtubule (GO:0072384)3.00833780
63synaptic vesicle endocytosis (GO:0048488)2.98337331
64regulation of synaptic plasticity (GO:0048167)2.93561679
65neurotransmitter transport (GO:0006836)2.93419001
66prepulse inhibition (GO:0060134)2.90931192
67mating behavior (GO:0007617)2.90907907
68positive regulation of dendritic spine morphogenesis (GO:0061003)2.90902219
69cell communication involved in cardiac conduction (GO:0086065)2.90558903
70auditory behavior (GO:0031223)2.90200957
71negative regulation of dendrite morphogenesis (GO:0050774)2.89993485
72cellular sodium ion homeostasis (GO:0006883)2.89060186
73membrane depolarization during action potential (GO:0086010)2.88643114
74central nervous system projection neuron axonogenesis (GO:0021952)2.85830001
75regulation of clathrin-mediated endocytosis (GO:2000369)2.85350872
76regulation of neurotransmitter secretion (GO:0046928)2.84810574
77regulation of synapse maturation (GO:0090128)2.84601771
78dendritic spine organization (GO:0097061)2.82271995
79regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81639314
80glycine transport (GO:0015816)2.80053262
81negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.79650379
82potassium ion import (GO:0010107)2.79470541
83positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.77283798
84axon extension (GO:0048675)2.76380795
85cerebellar Purkinje cell layer development (GO:0021680)2.75195174
86axon cargo transport (GO:0008088)2.74209574
87postsynaptic membrane organization (GO:0001941)2.74169133
88nerve growth factor signaling pathway (GO:0038180)2.73008294
89membrane assembly (GO:0071709)2.72822380
90G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.72314701
91positive regulation of axon extension (GO:0045773)2.71746065
92regulation of vesicle fusion (GO:0031338)2.71508218
93presynaptic membrane assembly (GO:0097105)2.71352299
94regulation of synaptic transmission, glutamatergic (GO:0051966)2.70993235
95transmission of nerve impulse (GO:0019226)2.70844785
96neuromuscular process (GO:0050905)2.70476906
97synapse assembly (GO:0007416)2.69919174
98potassium ion homeostasis (GO:0055075)2.69723067
99regulation of neurotransmitter levels (GO:0001505)2.69525912
100regulation of dendritic spine development (GO:0060998)2.69190542
101response to auditory stimulus (GO:0010996)2.68546431
102synapse organization (GO:0050808)2.68100012
103positive regulation of fibroblast migration (GO:0010763)2.67418425
104response to pheromone (GO:0019236)2.66921186
105membrane depolarization (GO:0051899)2.65244137
106positive regulation of potassium ion transmembrane transport (GO:1901381)2.64173713
107regulation of NFAT protein import into nucleus (GO:0051532)2.64136150
108presynaptic membrane organization (GO:0097090)2.63116948
109positive regulation of dendritic spine development (GO:0060999)2.62885938
110G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.61111154
111cell differentiation in hindbrain (GO:0021533)2.60710488
112semaphorin-plexin signaling pathway (GO:0071526)2.53527316
113protein targeting to plasma membrane (GO:0072661)2.51322076
114positive regulation of dendrite development (GO:1900006)2.50515622
115central nervous system myelination (GO:0022010)2.48318719
116axon ensheathment in central nervous system (GO:0032291)2.48318719
117establishment of mitochondrion localization (GO:0051654)2.47426685
118cellular response to monoamine stimulus (GO:0071868)2.46253675
119cellular response to catecholamine stimulus (GO:0071870)2.46253675
120regulation of dendrite morphogenesis (GO:0048814)2.45570696
121regulation of voltage-gated calcium channel activity (GO:1901385)2.45402468
122dopamine receptor signaling pathway (GO:0007212)2.44933954
123myelination in peripheral nervous system (GO:0022011)2.44881486
124peripheral nervous system axon ensheathment (GO:0032292)2.44881486
125negative regulation of synaptic transmission, GABAergic (GO:0032229)2.44345005
126suckling behavior (GO:0001967)2.42151730
127regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.39852547
128adherens junction assembly (GO:0034333)2.39414436

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.86563880
2DROSHA_22980978_ChIP-Seq_HELA_Human2.72706670
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.62382974
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.58053638
5EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.56926369
6GBX2_23144817_ChIP-Seq_PC3_Human2.51247224
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.49287102
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44456628
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44456628
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.43714644
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.38931519
12REST_21632747_ChIP-Seq_MESCs_Mouse2.24748674
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.23799131
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.17398105
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.17332104
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.17121896
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.12547905
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.08956636
19SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.05512651
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.01095434
21RNF2_27304074_Chip-Seq_ESCs_Mouse1.98173682
22EZH2_27304074_Chip-Seq_ESCs_Mouse1.97807668
23EZH2_27294783_Chip-Seq_ESCs_Mouse1.94067749
24TP63_17297297_ChIP-ChIP_HaCaT_Human1.90303922
25TRIM28_21343339_ChIP-Seq_HEK293_Human1.88626079
26SUZ12_27294783_Chip-Seq_ESCs_Mouse1.85249750
27REST_18959480_ChIP-ChIP_MESCs_Mouse1.83820182
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.75633391
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73969319
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71923304
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.71818702
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.70343301
33WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.68644174
34* KDM2B_26808549_Chip-Seq_K562_Human1.64816258
35TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.62994340
36AR_21572438_ChIP-Seq_LNCaP_Human1.60749515
37ZFP281_18757296_ChIP-ChIP_E14_Mouse1.58974173
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.54412919
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53461697
40ZNF274_21170338_ChIP-Seq_K562_Hela1.50099464
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.48016951
42ZNF217_24962896_ChIP-Seq_MCF-7_Human1.41162786
43WT1_25993318_ChIP-Seq_PODOCYTE_Human1.40253017
44SMAD4_21799915_ChIP-Seq_A2780_Human1.38108566
45* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.37097837
46ZFP281_27345836_Chip-Seq_ESCs_Mouse1.37006929
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.37006512
48SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.35187541
49AR_19668381_ChIP-Seq_PC3_Human1.34971951
50DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.33280095
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.32874184
52TP53_16413492_ChIP-PET_HCT116_Human1.29575248
53RARG_19884340_ChIP-ChIP_MEFs_Mouse1.29401047
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.28635830
55PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.27307346
56* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.26871412
57AHR_22903824_ChIP-Seq_MCF-7_Human1.25373053
58DNAJC2_21179169_ChIP-ChIP_NT2_Human1.24917544
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23310294
60CTBP2_25329375_ChIP-Seq_LNCAP_Human1.22637298
61ARNT_22903824_ChIP-Seq_MCF-7_Human1.21990863
62LXR_22292898_ChIP-Seq_THP-1_Human1.21979889
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.21079586
64OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.21057940
65GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20442890
66SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20148158
67PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19780683
68RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.19765252
69STAT3_23295773_ChIP-Seq_U87_Human1.16530644
70YAP1_20516196_ChIP-Seq_MESCs_Mouse1.16276752
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15699078
72ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.15329677
73EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.14677490
74SOX9_24532713_ChIP-Seq_HFSC_Mouse1.14481907
75ISL1_27105846_Chip-Seq_CPCs_Mouse1.13009623
76P300_27058665_Chip-Seq_ZR-75-30cells_Human1.11819969
77CTNNB1_20460455_ChIP-Seq_HCT116_Human1.10773357
78CLOCK_20551151_ChIP-Seq_293T_Human1.09787843
79TP53_23651856_ChIP-Seq_MEFs_Mouse1.08817896
80NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.08207182
81RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07990690
82SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.07741789
83KDM2B_26808549_Chip-Seq_JURKAT_Human1.06640080
84KDM2B_26808549_Chip-Seq_DND41_Human1.05856578
85EP300_21415370_ChIP-Seq_HL-1_Mouse1.05556098
86KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.05208241
87CTBP1_25329375_ChIP-Seq_LNCAP_Human1.03476968
88* SMAD4_21741376_ChIP-Seq_HESCs_Human1.02942079
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01963005
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01915229
91AR_25329375_ChIP-Seq_VCAP_Human1.00210494
92* SMAD3_21741376_ChIP-Seq_ESCs_Human0.99511541
93SMAD3_21741376_ChIP-Seq_HESCs_Human0.98950233
94NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.98514996
95RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.97905950
96TCF7_22412390_ChIP-Seq_EML_Mouse0.97299998
97TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97288596
98* TCF4_23295773_ChIP-Seq_U87_Human0.96586727
99NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96392284
100SMAD3_21741376_ChIP-Seq_EPCs_Human0.96078579
101* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.95495340
102CTCF_27219007_Chip-Seq_Bcells_Human0.95137841
103TET1_21490601_ChIP-Seq_MESCs_Mouse0.94882918
104TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.93785433
105FOXA2_19822575_ChIP-Seq_HepG2_Human0.92820652
106STAT6_21828071_ChIP-Seq_BEAS2B_Human0.92395957
107ZNF263_19887448_ChIP-Seq_K562_Human0.91955961
108TCF4_18268006_ChIP-ChIP_LS174T_Human0.91033937
109* SMC4_20622854_ChIP-Seq_HELA_Human0.90362878
110BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90069693
111* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89709225
112RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89499191
113PIAS1_25552417_ChIP-Seq_VCAP_Human0.89411134
114TBX20_22328084_ChIP-Seq_HEART_Mouse0.89342734
115TBX20_22080862_ChIP-Seq_HEART_Mouse0.89342734
116RXR_22108803_ChIP-Seq_LS180_Human0.88808903
117ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.88748729
118PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.88006239
119* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87732050
120ESR1_20079471_ChIP-ChIP_T-47D_Human0.86827444
121PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86405258
122ESR2_21235772_ChIP-Seq_MCF-7_Human0.86399823
123P53_22127205_ChIP-Seq_FIBROBLAST_Human0.86388306
124VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86299864
125MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.85353700
126TP53_20018659_ChIP-ChIP_R1E_Mouse0.84862419

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.74534605
2MP0003635_abnormal_synaptic_transmissio3.90876565
3MP0004270_analgesia3.77187719
4MP0003880_abnormal_central_pattern3.08541692
5MP0002063_abnormal_learning/memory/cond3.06906873
6MP0009046_muscle_twitch3.00025509
7MP0009745_abnormal_behavioral_response2.81931667
8MP0009780_abnormal_chondrocyte_physiolo2.79474484
9MP0005423_abnormal_somatic_nervous2.61385398
10MP0002064_seizures2.59363296
11MP0000569_abnormal_digit_pigmentation2.56622162
12MP0002734_abnormal_mechanical_nocicepti2.56249546
13MP0001968_abnormal_touch/_nociception2.49503409
14MP0004858_abnormal_nervous_system2.45623305
15MP0002572_abnormal_emotion/affect_behav2.31381234
16MP0005409_darkened_coat_color2.20656649
17MP0008438_abnormal_cutaneous_collagen2.11499355
18MP0001486_abnormal_startle_reflex2.05433464
19MP0002735_abnormal_chemical_nociception2.05350060
20MP0000778_abnormal_nervous_system2.04962438
21MP0002272_abnormal_nervous_system2.03055507
22MP0008569_lethality_at_weaning1.99926183
23MP0003329_amyloid_beta_deposits1.98997279
24MP0004811_abnormal_neuron_physiology1.96267725
25MP0001440_abnormal_grooming_behavior1.93632698
26MP0002184_abnormal_innervation1.92446599
27MP0002733_abnormal_thermal_nociception1.87876586
28MP0002909_abnormal_adrenal_gland1.84234035
29MP0001958_emphysema1.79490156
30MP0004885_abnormal_endolymph1.77356445
31MP0005623_abnormal_meninges_morphology1.73733009
32MP0002736_abnormal_nociception_after1.73344994
33MP0002067_abnormal_sensory_capabilities1.72709716
34MP0000955_abnormal_spinal_cord1.67957486
35MP0001970_abnormal_pain_threshold1.63898598
36MP0001501_abnormal_sleep_pattern1.61951725
37MP0010234_abnormal_vibrissa_follicle1.60764660
38MP0003283_abnormal_digestive_organ1.60023109
39MP0002822_catalepsy1.58876304
40MP0002557_abnormal_social/conspecific_i1.55841889
41MP0005386_behavior/neurological_phenoty1.55109764
42MP0004924_abnormal_behavior1.55109764
43MP0000920_abnormal_myelination1.55101695
44MP0000751_myopathy1.45144896
45MP0003566_abnormal_cell_adhesion1.41181352
46MP0003787_abnormal_imprinting1.41018082
47MP0000579_abnormal_nail_morphology1.39666171
48MP0003879_abnormal_hair_cell1.37277202
49MP0002882_abnormal_neuron_morphology1.37218191
50MP0003633_abnormal_nervous_system1.33407323
51MP0008961_abnormal_basal_metabolism1.30722956
52MP0004272_abnormal_basement_membrane1.30601736
53MP0002066_abnormal_motor_capabilities/c1.29013021
54MP0010368_abnormal_lymphatic_system1.24429061
55MP0002152_abnormal_brain_morphology1.23757718
56MP0003631_nervous_system_phenotype1.17964933
57MP0003705_abnormal_hypodermis_morpholog1.17437590
58MP0005187_abnormal_penis_morphology1.16024535
59MP0001299_abnormal_eye_distance/1.14960145
60MP0001849_ear_inflammation1.14802218
61MP0004233_abnormal_muscle_weight1.13999653
62MP0004145_abnormal_muscle_electrophysio1.13185652
63MP0003045_fibrosis1.11237967
64MP0003279_aneurysm1.09354720
65MP0005275_abnormal_skin_tensile1.09279543
66MP0005167_abnormal_blood-brain_barrier1.08584310
67MP0003632_abnormal_nervous_system1.08359186
68MP0005257_abnormal_intraocular_pressure1.07399445
69MP0000013_abnormal_adipose_tissue1.04530461
70MP0001177_atelectasis1.03811123
71MP0003634_abnormal_glial_cell0.95803107
72MP0004215_abnormal_myocardial_fiber0.93457423
73MP0004130_abnormal_muscle_cell0.91853582
74MP0002877_abnormal_melanocyte_morpholog0.91288575
75MP0001348_abnormal_lacrimal_gland0.89188917
76MP0004085_abnormal_heartbeat0.88210728
77MP0000537_abnormal_urethra_morphology0.88063060
78MP0003861_abnormal_nervous_system0.85141001
79MP0000604_amyloidosis0.84444607
80MP0003690_abnormal_glial_cell0.83283879
81MP0001502_abnormal_circadian_rhythm0.83132401
82MP0002896_abnormal_bone_mineralization0.82890594
83MP0003385_abnormal_body_wall0.82403208
84MP0000566_synostosis0.81605338
85MP0002089_abnormal_postnatal_growth/wei0.81516863
86MP0001984_abnormal_olfaction0.80827105
87MP0005503_abnormal_tendon_morphology0.80058534
88MP0000462_abnormal_digestive_system0.78817848
89MP0005388_respiratory_system_phenotype0.78325209
90MP0002133_abnormal_respiratory_system0.78325209
91MP0000733_abnormal_muscle_development0.77989279
92MP0003123_paternal_imprinting0.77650207
93MP0003115_abnormal_respiratory_system0.76158585
94MP0004510_myositis0.75957264
95MP0004084_abnormal_cardiac_muscle0.75753417
96MP0002249_abnormal_larynx_morphology0.75630780
97MP0003137_abnormal_impulse_conducting0.75323864
98MP0002229_neurodegeneration0.74773242
99MP0004484_altered_response_of0.74435552
100MP0000534_abnormal_ureter_morphology0.74090309
101MP0002069_abnormal_eating/drinking_beha0.73789569
102MP0002090_abnormal_vision0.73436083
103MP0005645_abnormal_hypothalamus_physiol0.73223267
104MP0006276_abnormal_autonomic_nervous0.71715948
105MP0003091_abnormal_cell_migration0.70801070
106MP0002234_abnormal_pharynx_morphology0.69714901
107MP0003122_maternal_imprinting0.68660670
108MP0001915_intracranial_hemorrhage0.67490189
109MP0002081_perinatal_lethality0.67066008
110MP0005076_abnormal_cell_differentiation0.66738016
111MP0008874_decreased_physiological_sensi0.66569946
112MP0004742_abnormal_vestibular_system0.63438487
113MP0000747_muscle_weakness0.62745153
114MP0003075_altered_response_to0.62060348
115MP0005646_abnormal_pituitary_gland0.60615007
116MP0010769_abnormal_survival0.60344848
117MP0001943_abnormal_respiration0.60115623
118MP0003119_abnormal_digestive_system0.59798388
119MP0004087_abnormal_muscle_fiber0.59480331
120MP0010770_preweaning_lethality0.56219463
121MP0002082_postnatal_lethality0.56219463
122MP0002752_abnormal_somatic_nervous0.55732588
123MP0010768_mortality/aging0.55584693
124MP0005551_abnormal_eye_electrophysiolog0.55533944
125MP0008872_abnormal_physiological_respon0.55003324
126MP0000003_abnormal_adipose_tissue0.54611953

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.07323011
2Focal motor seizures (HP:0011153)4.45608418
3Focal seizures (HP:0007359)4.34040485
4Action tremor (HP:0002345)4.28380578
5Visual hallucinations (HP:0002367)4.19878074
6Abnormality of the lower motor neuron (HP:0002366)3.72854837
7Progressive cerebellar ataxia (HP:0002073)3.67971285
8Supranuclear gaze palsy (HP:0000605)3.17976108
9Ankle clonus (HP:0011448)3.11797426
10Epileptic encephalopathy (HP:0200134)3.10223556
11Genetic anticipation (HP:0003743)2.95999615
12Dysmetric saccades (HP:0000641)2.88674771
13Termporal pattern (HP:0011008)2.87830038
14Insidious onset (HP:0003587)2.87830038
15Urinary bladder sphincter dysfunction (HP:0002839)2.86049420
16Poor eye contact (HP:0000817)2.83542289
17Atonic seizures (HP:0010819)2.83245030
18Gaze-evoked nystagmus (HP:0000640)2.82812222
19Impaired vibration sensation in the lower limbs (HP:0002166)2.80834986
20Protrusio acetabuli (HP:0003179)2.80151342
21Dysdiadochokinesis (HP:0002075)2.78790630
22Hemiplegia (HP:0002301)2.77245701
23Mutism (HP:0002300)2.76106627
24Amyotrophic lateral sclerosis (HP:0007354)2.74455556
25Papilledema (HP:0001085)2.73557421
26Impaired smooth pursuit (HP:0007772)2.70850702
27Impaired social interactions (HP:0000735)2.70289450
28Abnormal social behavior (HP:0012433)2.70289450
29Depression (HP:0000716)2.67722738
30Broad-based gait (HP:0002136)2.67498455
31Absence seizures (HP:0002121)2.67465748
32Urinary urgency (HP:0000012)2.65726875
33Febrile seizures (HP:0002373)2.62596304
34Truncal ataxia (HP:0002078)2.58102380
35Pointed chin (HP:0000307)2.55790735
36Premature rupture of membranes (HP:0001788)2.52884772
37Bronchomalacia (HP:0002780)2.51034369
38Generalized tonic-clonic seizures (HP:0002069)2.49785584
39Abnormality of ocular smooth pursuit (HP:0000617)2.49617727
40Insomnia (HP:0100785)2.48147858
41Abnormality of the corticospinal tract (HP:0002492)2.46625759
42Intention tremor (HP:0002080)2.44899253
43Postural instability (HP:0002172)2.44683877
44Arterial tortuosity (HP:0005116)2.42155186
45Drooling (HP:0002307)2.40540872
46Excessive salivation (HP:0003781)2.40540872
47Macroorchidism (HP:0000053)2.39903013
48Dysmetria (HP:0001310)2.36050909
49Scanning speech (HP:0002168)2.35842910
50Hyperacusis (HP:0010780)2.35784215
51Hemiparesis (HP:0001269)2.35054998
52Vascular tortuosity (HP:0004948)2.33219284
53Broad face (HP:0000283)2.33218930
54Atrophic scars (HP:0001075)2.32712149
55Cerebral inclusion bodies (HP:0100314)2.31052088
56Dialeptic seizures (HP:0011146)2.30522752
57Megalencephaly (HP:0001355)2.29777858
58Aplasia involving bones of the extremities (HP:0009825)2.27043478
59Aplasia involving bones of the upper limbs (HP:0009823)2.27043478
60Aplasia of the phalanges of the hand (HP:0009802)2.27043478
61Amblyopia (HP:0000646)2.24345791
62Ventricular fibrillation (HP:0001663)2.23516391
63Aqueductal stenosis (HP:0002410)2.22038331
64Turricephaly (HP:0000262)2.21702160
65Shallow orbits (HP:0000586)2.20028214
66Diplopia (HP:0000651)2.19035907
67Abnormality of binocular vision (HP:0011514)2.19035907
68Spastic gait (HP:0002064)2.15880330
69Lower limb amyotrophy (HP:0007210)2.15394927
70Elfin facies (HP:0004428)2.14341665
71Inappropriate behavior (HP:0000719)2.13773652
72Upper limb amyotrophy (HP:0009129)2.10913635
73Distal upper limb amyotrophy (HP:0007149)2.10913635
74Bundle branch block (HP:0011710)2.10665885
75Annular pancreas (HP:0001734)2.10105032
76Bladder diverticulum (HP:0000015)2.10102483
77Abnormal eating behavior (HP:0100738)2.08820504
78Lower limb muscle weakness (HP:0007340)2.08308703
79Hand muscle atrophy (HP:0009130)2.07945294
80Ulnar bowing (HP:0003031)2.06510233
81Torticollis (HP:0000473)2.05334346
82Stereotypic behavior (HP:0000733)2.02931941
83Akinesia (HP:0002304)2.02061453
84Apathy (HP:0000741)2.01747496
85Wormian bones (HP:0002645)2.01507271
86Vertebral arch anomaly (HP:0008438)2.00527842
87Subacute progressive viral hepatitis (HP:0006572)1.99663632
88Neonatal short-limb short stature (HP:0008921)1.95649274
89Astrocytoma (HP:0009592)1.93492621
90Abnormality of the astrocytes (HP:0100707)1.93492621
91Lower limb asymmetry (HP:0100559)1.93031583
92Broad metatarsal (HP:0001783)1.91179537
93Anxiety (HP:0000739)1.90994804
94Bradykinesia (HP:0002067)1.90791350
95Resting tremor (HP:0002322)1.90691689
96Neurofibrillary tangles (HP:0002185)1.90148188
97Mitral regurgitation (HP:0001653)1.89011937
98Mild short stature (HP:0003502)1.88476899
99Obstructive sleep apnea (HP:0002870)1.88295279
100Mitral valve prolapse (HP:0001634)1.86911444
101Difficulty running (HP:0009046)1.86465530
102Impaired vibratory sensation (HP:0002495)1.84688001
103Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.84671483
104Ankyloglossia (HP:0010296)1.84410603
105Agitation (HP:0000713)1.84023095
106Renovascular hypertension (HP:0100817)1.83318539
107Distal lower limb amyotrophy (HP:0008944)1.81036332
108Clonus (HP:0002169)1.80607417
109Cerebral aneurysm (HP:0004944)1.80228343
110Aortic dissection (HP:0002647)1.80022430
111Decreased motor nerve conduction velocity (HP:0003431)1.77439997
112Diminished motivation (HP:0000745)1.77029326
113Aortic aneurysm (HP:0004942)1.76576619
114Bowel diverticulosis (HP:0005222)1.76229361
115Postural tremor (HP:0002174)1.76113918
116Focal dystonia (HP:0004373)1.73887245
117Rapidly progressive (HP:0003678)1.71932976
118Overriding aorta (HP:0002623)1.71837661
119Enlarged penis (HP:0000040)1.71313940
120Renal duplication (HP:0000075)1.70508937
121Arnold-Chiari malformation (HP:0002308)1.69219000
122Difficulty climbing stairs (HP:0003551)1.68782738
123Hammertoe (HP:0001765)1.68130114
124Neoplasm of the heart (HP:0100544)1.68000793
125Neuronal loss in central nervous system (HP:0002529)1.67974935
126Heterotopia (HP:0002282)1.67706998
127Fragile skin (HP:0001030)1.67198898
128Hypoventilation (HP:0002791)1.66603974
129Gait ataxia (HP:0002066)1.66571365
130Overgrowth (HP:0001548)1.66064647
131Onion bulb formation (HP:0003383)1.62662614
132Hypoplasia of the iris (HP:0007676)1.62287641
133Distal sensory impairment (HP:0002936)1.61894959
134Wide anterior fontanel (HP:0000260)1.61412613
135Tetraplegia (HP:0002445)1.60377041
136Flat cornea (HP:0007720)1.59728600
137Peripheral hypomyelination (HP:0007182)1.58186152
138Tracheomalacia (HP:0002779)1.54681459
139Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.54171924

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.41438305
2MAP3K93.90363229
3NTRK33.49551350
4MAP3K42.70883645
5EPHA42.62251968
6MINK12.56674249
7PAK62.45829865
8DAPK22.42684565
9CASK2.24320416
10RIPK12.22735885
11PRKD32.18997567
12NTRK22.17008773
13CAMKK12.15955269
14KSR22.09429390
15CDK122.08235118
16NTRK11.92457169
17KSR11.65955152
18TYRO31.64912418
19LATS21.58056634
20TRIB31.52393954
21STK381.50686652
22SCYL21.49216804
23MAP2K41.46021364
24MAP2K71.45405387
25SIK21.45384013
26PHKG11.45077966
27PHKG21.45077966
28MAP3K21.39875510
29CDK51.38937474
30LMTK21.37077744
31RET1.33613803
32CAMK1G1.22712239
33ALK1.19096326
34CAMKK21.18884043
35FGFR41.17598011
36PDGFRA1.12764068
37DAPK11.10274370
38PKN21.10046843
39TAOK11.08207202
40CAMK2B1.04617550
41PRKCH1.04532654
42STK111.02716741
43MAPK131.00178361
44PAK30.98440587
45PNCK0.94183671
46SGK30.92921910
47PLK20.90808722
48MARK20.88801209
49PRKCG0.88253781
50NEK60.84957764
51ARAF0.82498789
52MET0.81140368
53SGK2230.79905252
54SGK4940.79905252
55FGFR20.79453658
56CDK150.79396672
57WNK10.79245962
58NEK10.78016744
59CDK180.76783603
60SGK20.76732154
61ICK0.75953060
62SIK10.75735588
63MAPK120.75692242
64DDR20.74844087
65CAMK1D0.74761128
66FGFR30.74675600
67CDC42BPA0.73856193
68FER0.73338206
69DMPK0.73201768
70BRD40.73027252
71RIPK40.72592514
72CDK140.72404585
73PAK20.72298885
74CSNK1G20.72252949
75MAP3K130.71949472
76SGK10.70638433
77PTK2B0.70449150
78SMG10.70165215
79UHMK10.70099467
80GRK50.67561773
81CAMK10.67482067
82PRPF4B0.65772541
83CDK11A0.65539045
84ERBB30.62253549
85BMX0.61334088
86LATS10.61022214
87MAP3K60.59856890
88PDK10.59328573
89DYRK1A0.59139822
90CAMK2G0.57280566
91RPS6KA20.56729339
92CAMK2A0.56668667
93PTK20.56228535
94PRKCZ0.55630487
95RPS6KA30.55597565
96MST1R0.55215875
97PTK60.54796534
98MAP3K70.54614719
99TTN0.53796142
100FYN0.53141389
101PDPK10.53075133
102MAP3K100.52085159
103PDGFRB0.51479792
104EEF2K0.50402816
105CAMK40.50079808
106MOS0.47578996
107MAPK100.46752936
108AKT30.46624677
109EPHA30.46363174
110RAF10.45351303
111JAK10.45072499
112FES0.45010196
113ROCK10.44491629
114FGFR10.40569807
115PDK40.40486286
116PDK30.40486286
117TNIK0.39616136
118EPHB20.37786217
119MAPK80.37670286
120MAP2K10.36597414
121MAP3K120.35710435
122MTOR0.35481083
123ROCK20.34503050

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.63225984
2Synaptic vesicle cycle_Homo sapiens_hsa047212.47701587
3Long-term potentiation_Homo sapiens_hsa047202.36294609
4Circadian entrainment_Homo sapiens_hsa047132.31792528
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27789888
6Glutamatergic synapse_Homo sapiens_hsa047242.16260946
7Olfactory transduction_Homo sapiens_hsa047402.12623655
8GABAergic synapse_Homo sapiens_hsa047272.07800011
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.04458448
10Morphine addiction_Homo sapiens_hsa050321.91209595
11Salivary secretion_Homo sapiens_hsa049701.90358069
12Amphetamine addiction_Homo sapiens_hsa050311.83474018
13Dopaminergic synapse_Homo sapiens_hsa047281.81348734
14Gastric acid secretion_Homo sapiens_hsa049711.78702957
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75849225
16Cholinergic synapse_Homo sapiens_hsa047251.71542994
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67216256
18Insulin secretion_Homo sapiens_hsa049111.65466635
19Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.64014466
20Oxytocin signaling pathway_Homo sapiens_hsa049211.55273204
21Long-term depression_Homo sapiens_hsa047301.53493464
22Renin secretion_Homo sapiens_hsa049241.51838855
23Type II diabetes mellitus_Homo sapiens_hsa049301.49741512
24GnRH signaling pathway_Homo sapiens_hsa049121.42928088
25Glioma_Homo sapiens_hsa052141.42626720
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.42146357
27Gap junction_Homo sapiens_hsa045401.41708762
28Estrogen signaling pathway_Homo sapiens_hsa049151.40723602
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.37427333
30Axon guidance_Homo sapiens_hsa043601.32553045
31Taste transduction_Homo sapiens_hsa047421.29662069
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.27027407
33Dorso-ventral axis formation_Homo sapiens_hsa043201.21973738
34ECM-receptor interaction_Homo sapiens_hsa045121.21687427
35Calcium signaling pathway_Homo sapiens_hsa040201.21603248
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.21324982
37cAMP signaling pathway_Homo sapiens_hsa040241.20436638
38Cocaine addiction_Homo sapiens_hsa050301.18284235
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18011907
40ErbB signaling pathway_Homo sapiens_hsa040121.14013119
41Prion diseases_Homo sapiens_hsa050201.13916026
42Nitrogen metabolism_Homo sapiens_hsa009101.13531816
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.12183779
44Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.11387831
45Melanogenesis_Homo sapiens_hsa049161.09778483
46mTOR signaling pathway_Homo sapiens_hsa041501.06837937
47Serotonergic synapse_Homo sapiens_hsa047261.04689176
48Dilated cardiomyopathy_Homo sapiens_hsa054141.04414261
49Endometrial cancer_Homo sapiens_hsa052131.03984053
50Phospholipase D signaling pathway_Homo sapiens_hsa040721.03401834
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.96478927
52Oocyte meiosis_Homo sapiens_hsa041140.95357492
53Thyroid hormone signaling pathway_Homo sapiens_hsa049190.95278593
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.92452773
55VEGF signaling pathway_Homo sapiens_hsa043700.90346119
56Thyroid hormone synthesis_Homo sapiens_hsa049180.87380344
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.85747507
58Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84568387
59Choline metabolism in cancer_Homo sapiens_hsa052310.83081383
60Rap1 signaling pathway_Homo sapiens_hsa040150.77691824
61Pancreatic secretion_Homo sapiens_hsa049720.76922971
62Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.76237945
63Renal cell carcinoma_Homo sapiens_hsa052110.75945467
64Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75669863
65MAPK signaling pathway_Homo sapiens_hsa040100.75166827
66Non-small cell lung cancer_Homo sapiens_hsa052230.73138165
67Colorectal cancer_Homo sapiens_hsa052100.71860276
68Notch signaling pathway_Homo sapiens_hsa043300.69963664
69Bile secretion_Homo sapiens_hsa049760.69788620
70Glucagon signaling pathway_Homo sapiens_hsa049220.69762801
71Insulin signaling pathway_Homo sapiens_hsa049100.69594480
72Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.69449099
73Central carbon metabolism in cancer_Homo sapiens_hsa052300.69326988
74Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.68925358
75Focal adhesion_Homo sapiens_hsa045100.68501757
76Vibrio cholerae infection_Homo sapiens_hsa051100.67675741
77Endocytosis_Homo sapiens_hsa041440.67353343
78MicroRNAs in cancer_Homo sapiens_hsa052060.65319584
79Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64707784
80Proteoglycans in cancer_Homo sapiens_hsa052050.63886033
81Inositol phosphate metabolism_Homo sapiens_hsa005620.62963787
82Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.62767747
83Protein digestion and absorption_Homo sapiens_hsa049740.61633881
84Pancreatic cancer_Homo sapiens_hsa052120.61446456
85Ras signaling pathway_Homo sapiens_hsa040140.61027563
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.60715789
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58701104
88Vitamin B6 metabolism_Homo sapiens_hsa007500.57773412
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57349840
90Leukocyte transendothelial migration_Homo sapiens_hsa046700.57315578
91Hippo signaling pathway_Homo sapiens_hsa043900.55524719
92Wnt signaling pathway_Homo sapiens_hsa043100.54326290
93* Tight junction_Homo sapiens_hsa045300.54242114
94Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52964625
95Platelet activation_Homo sapiens_hsa046110.51863553
96Amoebiasis_Homo sapiens_hsa051460.50838058
97Alcoholism_Homo sapiens_hsa050340.50468122
98Regulation of actin cytoskeleton_Homo sapiens_hsa048100.49549714
99Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49381024
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49152483
101Prolactin signaling pathway_Homo sapiens_hsa049170.49018212
102Adherens junction_Homo sapiens_hsa045200.48580859
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.48537084
104Chronic myeloid leukemia_Homo sapiens_hsa052200.48247096
105AMPK signaling pathway_Homo sapiens_hsa041520.48158621
106Fatty acid biosynthesis_Homo sapiens_hsa000610.47546294
107Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.46995131
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.44921353
109Insulin resistance_Homo sapiens_hsa049310.43102433
110Phototransduction_Homo sapiens_hsa047440.42441456

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