SPTBN4

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: Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.88102900
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.61105831
3locomotory exploration behavior (GO:0035641)6.48329472
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.05296163
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.04420858
6vocalization behavior (GO:0071625)5.50083797
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.36713295
8synaptic vesicle exocytosis (GO:0016079)5.28002014
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.27118530
10regulation of synaptic vesicle exocytosis (GO:2000300)5.13918234
11glutamate secretion (GO:0014047)5.07188067
12cerebellar granule cell differentiation (GO:0021707)5.04016215
13regulation of glutamate receptor signaling pathway (GO:1900449)4.97794695
14regulation of synapse structural plasticity (GO:0051823)4.86788497
15regulation of neuronal synaptic plasticity (GO:0048168)4.85262922
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.80068527
17neurotransmitter secretion (GO:0007269)4.78903940
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.74143676
19neuronal action potential propagation (GO:0019227)4.69486910
20exploration behavior (GO:0035640)4.63535356
21regulation of synaptic vesicle transport (GO:1902803)4.58330465
22gamma-aminobutyric acid transport (GO:0015812)4.45203460
23layer formation in cerebral cortex (GO:0021819)4.44274174
24protein localization to synapse (GO:0035418)4.38256751
25dendritic spine morphogenesis (GO:0060997)4.35903971
26synaptic transmission, glutamatergic (GO:0035249)4.32190657
27amino acid import (GO:0043090)4.29728344
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.27629611
29potassium ion homeostasis (GO:0055075)4.23812103
30long-term memory (GO:0007616)4.21071213
31cellular potassium ion homeostasis (GO:0030007)4.21063191
32sodium ion export (GO:0071436)4.16800114
33neuromuscular process controlling balance (GO:0050885)4.16782717
34neurotransmitter-gated ion channel clustering (GO:0072578)4.15381204
35postsynaptic membrane organization (GO:0001941)4.14940722
36regulation of synapse maturation (GO:0090128)4.05364400
37glutamate receptor signaling pathway (GO:0007215)4.04675537
38negative regulation of synaptic transmission, GABAergic (GO:0032229)4.03901866
39positive regulation of membrane potential (GO:0045838)4.03111395
40neuron-neuron synaptic transmission (GO:0007270)3.98282690
41central nervous system myelination (GO:0022010)3.96093045
42axon ensheathment in central nervous system (GO:0032291)3.96093045
43prepulse inhibition (GO:0060134)3.95126744
44neuromuscular process controlling posture (GO:0050884)3.92595609
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.89832547
46glycine transport (GO:0015816)3.89821934
47activation of protein kinase A activity (GO:0034199)3.85918835
48auditory behavior (GO:0031223)3.84474071
49proline transport (GO:0015824)3.81935712
50negative regulation of dendrite morphogenesis (GO:0050774)3.80897912
51regulation of dendritic spine morphogenesis (GO:0061001)3.79346306
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.77059459
53neurotransmitter transport (GO:0006836)3.75472585
54regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.74838138
55positive regulation of synaptic transmission, GABAergic (GO:0032230)3.74578487
56regulation of synaptic plasticity (GO:0048167)3.69912772
57cerebellar Purkinje cell differentiation (GO:0021702)3.68076162
58regulation of postsynaptic membrane potential (GO:0060078)3.65910134
59positive regulation of synapse maturation (GO:0090129)3.64975133
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.63657772
61positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.61158715
62neuron cell-cell adhesion (GO:0007158)3.61117451
63cellular sodium ion homeostasis (GO:0006883)3.57886105
64regulation of neurotransmitter levels (GO:0001505)3.53226083
65response to auditory stimulus (GO:0010996)3.52278867
66regulation of ARF protein signal transduction (GO:0032012)3.47956619
67regulation of neurotransmitter secretion (GO:0046928)3.47829021
68positive regulation of neurotransmitter transport (GO:0051590)3.45045847
69cell communication by electrical coupling (GO:0010644)3.43956081
70gamma-aminobutyric acid signaling pathway (GO:0007214)3.43235370
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43154194
72membrane depolarization during action potential (GO:0086010)3.39574079
73synaptic vesicle endocytosis (GO:0048488)3.38995733
74regulation of synaptic transmission, glutamatergic (GO:0051966)3.35626839
75positive regulation of neurotransmitter secretion (GO:0001956)3.34844484
76regulation of neurotransmitter transport (GO:0051588)3.29272729
77acidic amino acid transport (GO:0015800)3.29228752
78neuromuscular process (GO:0050905)3.25446123
79G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.24878355
80long-term synaptic potentiation (GO:0060291)3.23757676
81neurotransmitter uptake (GO:0001504)3.23568865
82dendritic spine organization (GO:0097061)3.23244411
83membrane depolarization (GO:0051899)3.23096553
84chemosensory behavior (GO:0007635)3.22575092
85neuromuscular synaptic transmission (GO:0007274)3.20567796
86membrane hyperpolarization (GO:0060081)3.20495639
87regulation of vesicle fusion (GO:0031338)3.20391790
88cell differentiation in hindbrain (GO:0021533)3.20153409
89vesicle transport along microtubule (GO:0047496)3.18676633
90dendrite morphogenesis (GO:0048813)3.18400095
91cerebellar Purkinje cell layer development (GO:0021680)3.18396529
92positive regulation of dendritic spine development (GO:0060999)3.16343821
93potassium ion import (GO:0010107)3.13977013
94* neuronal ion channel clustering (GO:0045161)3.12016895
95regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09388002
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.07360275
97establishment of synaptic vesicle localization (GO:0097480)3.07292325
98synaptic vesicle transport (GO:0048489)3.07292325
99vesicle docking involved in exocytosis (GO:0006904)3.06867465
100positive regulation of dendritic spine morphogenesis (GO:0061003)3.06672663
101signal release (GO:0023061)3.04956629
102learning (GO:0007612)3.04826978
103L-amino acid import (GO:0043092)3.04080433
104positive regulation of dendrite development (GO:1900006)3.02997676
105regulation of dendritic spine development (GO:0060998)3.02586483
106regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.02564170
107G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.02418247
108positive regulation of synaptic transmission (GO:0050806)3.02066860
109regulation of female receptivity (GO:0045924)3.01546702
110regulation of voltage-gated calcium channel activity (GO:1901385)3.01088337
111regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.00726204
112regulation of exocytosis (GO:0017157)3.00009786
113regulation of synaptic transmission (GO:0050804)2.99483113
114regulation of calcium ion-dependent exocytosis (GO:0017158)2.98719723
115visual learning (GO:0008542)2.97611883
116* transmission of nerve impulse (GO:0019226)2.97229578
117mating behavior (GO:0007617)2.96290004
118neuron recognition (GO:0008038)2.94883851
119social behavior (GO:0035176)2.94638894
120intraspecies interaction between organisms (GO:0051703)2.94638894
121mechanosensory behavior (GO:0007638)2.93790487
122dopamine receptor signaling pathway (GO:0007212)2.93079952
123striatum development (GO:0021756)2.92863365
124synaptic transmission (GO:0007268)2.92500025

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.80826286
2RARB_27405468_Chip-Seq_BRAIN_Mouse3.33764635
3REST_21632747_ChIP-Seq_MESCs_Mouse3.02657766
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.94560861
5* DROSHA_22980978_ChIP-Seq_HELA_Human2.93290837
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.90950948
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84496800
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.79550111
9MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.72063736
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67989396
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67989396
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59088502
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.58377421
14GBX2_23144817_ChIP-Seq_PC3_Human2.55949497
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53925964
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.51218354
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.43872796
18SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37012581
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.33009054
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32578533
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.31509633
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.28164519
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.24507402
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.20059206
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.13085598
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.09896923
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.98068898
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.97431658
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.93488963
30RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.69982325
31KDM2B_26808549_Chip-Seq_K562_Human1.62853687
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.61617838
33ZFP281_18757296_ChIP-ChIP_E14_Mouse1.55355262
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.51853795
35* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.46526455
36AR_21572438_ChIP-Seq_LNCaP_Human1.45115364
37CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.43399633
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42334635
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.38616755
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.38270344
41GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35262862
42RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.31713436
43WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31231608
44ZFP281_27345836_Chip-Seq_ESCs_Mouse1.29757110
45* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.29029666
46SMAD4_21799915_ChIP-Seq_A2780_Human1.28677228
47AR_19668381_ChIP-Seq_PC3_Human1.25749603
48ZNF274_21170338_ChIP-Seq_K562_Hela1.24437181
49SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.23307005
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.20485810
51SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19602959
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18778494
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.18186189
54RING1B_27294783_Chip-Seq_NPCs_Mouse1.17753430
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.14733735
56TET1_21490601_ChIP-Seq_MESCs_Mouse1.11124121
57CTCF_27219007_Chip-Seq_Bcells_Human1.09036765
58PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08830293
59TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08233130
60SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.07895037
61STAT3_23295773_ChIP-Seq_U87_Human1.06449177
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05509676
63KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05218940
64DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.05043339
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03596452
66CTBP1_25329375_ChIP-Seq_LNCAP_Human1.01740459
67YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97415246
68MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97345072
69RNF2_27304074_Chip-Seq_NSC_Mouse0.96842916
70KLF4_19829295_ChIP-Seq_ESCs_Human0.96640227
71SMAD3_21741376_ChIP-Seq_ESCs_Human0.95321606
72PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94375725
73ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93754859
74THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.93462122
75SMAD3_21741376_ChIP-Seq_HESCs_Human0.93117216
76SMAD3_21741376_ChIP-Seq_EPCs_Human0.92982929
77SMC4_20622854_ChIP-Seq_HELA_Human0.92609171
78LXR_22292898_ChIP-Seq_THP-1_Human0.92462811
79SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92391019
80AR_25329375_ChIP-Seq_VCAP_Human0.91044276
81TCF4_23295773_ChIP-Seq_U87_Human0.90969179
82PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.90943409
83ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.90239008
84CBX2_27304074_Chip-Seq_ESCs_Mouse0.90016936
85SMAD4_21741376_ChIP-Seq_HESCs_Human0.89884979
86PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89810971
87TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.87771970
88TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.87538563
89SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86808279
90OCT4_19829295_ChIP-Seq_ESCs_Human0.86740298
91KDM2B_26808549_Chip-Seq_JURKAT_Human0.85887427
92KDM2B_26808549_Chip-Seq_DND41_Human0.85800911
93RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.85729543
94TP53_20018659_ChIP-ChIP_R1E_Mouse0.84477598
95EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.84424814
96OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84285771
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84213907
98VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83978486
99AHR_22903824_ChIP-Seq_MCF-7_Human0.82573239
100SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.81981962
101TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.81963728
102SRY_22984422_ChIP-ChIP_TESTIS_Rat0.81592205
103ARNT_22903824_ChIP-Seq_MCF-7_Human0.80602935
104* CREB1_26743006_Chip-Seq_LNCaP_Human0.80505780
105SMAD_19615063_ChIP-ChIP_OVARY_Human0.80449447
106P68_20966046_ChIP-Seq_HELA_Human0.80247465
107SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.79816575
108RXR_22108803_ChIP-Seq_LS180_Human0.78815233
109CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77939220
110RUNX1_26923725_Chip-Seq_HPCs_Mouse0.77792712
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.77659661
112DPY_21335234_ChIP-Seq_ESCs_Mouse0.77602367
113MYC_19915707_ChIP-ChIP_AK7_Human0.75278808
114TP53_23651856_ChIP-Seq_MEFs_Mouse0.74900086
115SMAD4_21741376_ChIP-Seq_ESCs_Human0.73279718
116GATA1_26923725_Chip-Seq_HPCs_Mouse0.72990901
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72769414
118TOP2B_26459242_ChIP-Seq_MCF-7_Human0.72494312
119NR3C1_21868756_ChIP-Seq_MCF10A_Human0.71829846
120CDX2_19796622_ChIP-Seq_MESCs_Mouse0.69141284

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.20348577
2MP0003635_abnormal_synaptic_transmissio4.35227245
3MP0002822_catalepsy4.10079358
4MP0003880_abnormal_central_pattern4.09181673
5MP0004270_analgesia3.76271149
6MP0009745_abnormal_behavioral_response3.50707719
7MP0002063_abnormal_learning/memory/cond3.40729858
8MP0009046_muscle_twitch3.35371543
9MP0002064_seizures3.21102471
10MP0005423_abnormal_somatic_nervous2.96868270
11MP0002572_abnormal_emotion/affect_behav2.76945557
12MP0002272_abnormal_nervous_system2.67184738
13MP0001968_abnormal_touch/_nociception2.64356889
14MP0001486_abnormal_startle_reflex2.62459100
15MP0002734_abnormal_mechanical_nocicepti2.57497018
16MP0002909_abnormal_adrenal_gland2.30232292
17MP0008569_lethality_at_weaning2.25383551
18MP0001501_abnormal_sleep_pattern2.24902007
19MP0009780_abnormal_chondrocyte_physiolo2.09546785
20MP0002733_abnormal_thermal_nociception1.96234964
21MP0001970_abnormal_pain_threshold1.91260064
22MP0004811_abnormal_neuron_physiology1.90076904
23MP0003283_abnormal_digestive_organ1.90071229
24MP0001440_abnormal_grooming_behavior1.88501352
25MP0002736_abnormal_nociception_after1.84165434
26MP0002067_abnormal_sensory_capabilities1.81061843
27MP0004858_abnormal_nervous_system1.78646229
28MP0003329_amyloid_beta_deposits1.75943837
29MP0002735_abnormal_chemical_nociception1.75906616
30MP0002557_abnormal_social/conspecific_i1.73786475
31MP0005386_behavior/neurological_phenoty1.67351569
32MP0004924_abnormal_behavior1.67351569
33MP0005646_abnormal_pituitary_gland1.67293327
34MP0002184_abnormal_innervation1.66998916
35MP0004885_abnormal_endolymph1.66881431
36MP0003879_abnormal_hair_cell1.65083138
37MP0000955_abnormal_spinal_cord1.63136110
38MP0001984_abnormal_olfaction1.52050744
39MP0003633_abnormal_nervous_system1.48425632
40MP0003787_abnormal_imprinting1.46442881
41MP0002066_abnormal_motor_capabilities/c1.44359866
42MP0000778_abnormal_nervous_system1.39390879
43MP0002882_abnormal_neuron_morphology1.37301615
44MP0005645_abnormal_hypothalamus_physiol1.32113020
45MP0008961_abnormal_basal_metabolism1.26549900
46MP0003123_paternal_imprinting1.24236747
47MP0003075_altered_response_to1.21688164
48MP0003631_nervous_system_phenotype1.20688528
49MP0001502_abnormal_circadian_rhythm1.16473053
50MP0004142_abnormal_muscle_tone1.15860148
51MP0000013_abnormal_adipose_tissue1.14202814
52MP0008872_abnormal_physiological_respon1.13075943
53MP0004145_abnormal_muscle_electrophysio1.10282720
54MP0002152_abnormal_brain_morphology1.09831069
55MP0001348_abnormal_lacrimal_gland1.06615173
56MP0002638_abnormal_pupillary_reflex1.04997416
57MP0005167_abnormal_blood-brain_barrier1.03968033
58MP0000569_abnormal_digit_pigmentation1.03714483
59MP0003690_abnormal_glial_cell1.02108715
60MP0004147_increased_porphyrin_level1.02078889
61MP0001177_atelectasis1.01277579
62MP0001529_abnormal_vocalization1.01107336
63MP0008874_decreased_physiological_sensi0.99799191
64MP0002069_abnormal_eating/drinking_beha0.97234156
65MP0002229_neurodegeneration0.96784958
66MP0003122_maternal_imprinting0.91942288
67MP0004043_abnormal_pH_regulation0.88746797
68MP0005394_taste/olfaction_phenotype0.88576697
69MP0005499_abnormal_olfactory_system0.88576697
70MP0003632_abnormal_nervous_system0.88576608
71MP0010234_abnormal_vibrissa_follicle0.87211125
72MP0003172_abnormal_lysosome_physiology0.86969510
73MP0006276_abnormal_autonomic_nervous0.85754560
74MP0005535_abnormal_body_temperature0.84682550
75MP0000920_abnormal_myelination0.83711672
76MP0004085_abnormal_heartbeat0.83441974
77MP0000751_myopathy0.82834291
78MP0003634_abnormal_glial_cell0.82583676
79MP0001905_abnormal_dopamine_level0.81918433
80MP0001346_abnormal_lacrimal_gland0.75288614
81MP0004130_abnormal_muscle_cell0.74692198
82MP0000604_amyloidosis0.72123950
83MP0003137_abnormal_impulse_conducting0.70901986
84MP0004233_abnormal_muscle_weight0.70817281
85MP0005551_abnormal_eye_electrophysiolog0.68800420
86MP0000631_abnormal_neuroendocrine_gland0.67531280
87MP0001188_hyperpigmentation0.66368806
88MP0004742_abnormal_vestibular_system0.66271332
89MP0002090_abnormal_vision0.65753451
90MP0010386_abnormal_urinary_bladder0.64832990
91MP0001485_abnormal_pinna_reflex0.64742147
92MP0004510_myositis0.62599371
93MP0001963_abnormal_hearing_physiology0.61929637
94MP0005623_abnormal_meninges_morphology0.61363524
95MP0002752_abnormal_somatic_nervous0.59103871
96MP0008877_abnormal_DNA_methylation0.58159707
97MP0001986_abnormal_taste_sensitivity0.57306905
98MP0002653_abnormal_ependyma_morphology0.56999393
99MP0001299_abnormal_eye_distance/0.56284215
100MP0010769_abnormal_survival0.55937799
101MP0005409_darkened_coat_color0.54289441
102MP0005410_abnormal_fertilization0.53834357
103MP0003045_fibrosis0.53765733
104MP0010768_mortality/aging0.52477395
105MP0001943_abnormal_respiration0.52185361
106MP0003956_abnormal_body_size0.52012955
107MP0005187_abnormal_penis_morphology0.51690036
108MP0003861_abnormal_nervous_system0.51514458
109MP0010770_preweaning_lethality0.51365010
110MP0002082_postnatal_lethality0.51365010
111MP0000579_abnormal_nail_morphology0.49324170
112MP0000747_muscle_weakness0.49121979
113MP0005166_decreased_susceptibility_to0.46904845
114MP0000026_abnormal_inner_ear0.44672486

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.70987136
2Focal motor seizures (HP:0011153)6.90142490
3Focal seizures (HP:0007359)5.58344452
4Visual hallucinations (HP:0002367)5.54193260
5Action tremor (HP:0002345)4.73541566
6Progressive cerebellar ataxia (HP:0002073)4.34302164
7Epileptic encephalopathy (HP:0200134)4.09984485
8Febrile seizures (HP:0002373)3.92390892
9Ankle clonus (HP:0011448)3.90160236
10Atonic seizures (HP:0010819)3.87432384
11Supranuclear gaze palsy (HP:0000605)3.66746699
12Absence seizures (HP:0002121)3.65876986
13Abnormality of the lower motor neuron (HP:0002366)3.63427310
14Poor eye contact (HP:0000817)3.62309143
15Gaze-evoked nystagmus (HP:0000640)3.62026869
16Generalized tonic-clonic seizures (HP:0002069)3.58805811
17Depression (HP:0000716)3.57402151
18Impaired vibration sensation in the lower limbs (HP:0002166)3.50301010
19Dysdiadochokinesis (HP:0002075)3.49676884
20Papilledema (HP:0001085)3.38867872
21Cerebral hypomyelination (HP:0006808)3.36898588
22Annular pancreas (HP:0001734)3.34776500
23Postural instability (HP:0002172)3.32124350
24Dialeptic seizures (HP:0011146)3.31777094
25Abnormal social behavior (HP:0012433)3.30567539
26Impaired social interactions (HP:0000735)3.30567539
27Impaired smooth pursuit (HP:0007772)3.27417703
28Broad-based gait (HP:0002136)3.26429540
29Dysmetria (HP:0001310)3.25312254
30Urinary bladder sphincter dysfunction (HP:0002839)3.24108505
31Anxiety (HP:0000739)3.20235806
32Hemiplegia (HP:0002301)3.09145070
33Intention tremor (HP:0002080)3.04666364
34Torticollis (HP:0000473)3.03168113
35Mutism (HP:0002300)3.02284939
36Ventricular fibrillation (HP:0001663)2.97770316
37Genetic anticipation (HP:0003743)2.97193924
38Delusions (HP:0000746)2.93862119
39Truncal ataxia (HP:0002078)2.91019466
40Abnormality of ocular smooth pursuit (HP:0000617)2.89723309
41Akinesia (HP:0002304)2.89048009
42Dysmetric saccades (HP:0000641)2.88410971
43Hemiparesis (HP:0001269)2.79092484
44Abnormal eating behavior (HP:0100738)2.78284947
45Focal dystonia (HP:0004373)2.76740319
46Scanning speech (HP:0002168)2.76675205
47Urinary urgency (HP:0000012)2.72299805
48Spastic gait (HP:0002064)2.72218018
49Pointed chin (HP:0000307)2.66083317
50Insomnia (HP:0100785)2.59508493
51Bradykinesia (HP:0002067)2.59121292
52Bundle branch block (HP:0011710)2.57886730
53Stereotypic behavior (HP:0000733)2.57876353
54Sleep apnea (HP:0010535)2.56709196
55Resting tremor (HP:0002322)2.53066280
56Diplopia (HP:0000651)2.48670239
57Abnormality of binocular vision (HP:0011514)2.48670239
58Craniofacial dystonia (HP:0012179)2.48588638
59Amblyopia (HP:0000646)2.44917589
60Spastic tetraparesis (HP:0001285)2.43615169
61Clonus (HP:0002169)2.43451444
62Peripheral hypomyelination (HP:0007182)2.42033500
63Status epilepticus (HP:0002133)2.39358406
64Impaired vibratory sensation (HP:0002495)2.39306074
65Megalencephaly (HP:0001355)2.39089453
66Diminished motivation (HP:0000745)2.32549640
67Tetraplegia (HP:0002445)2.27750924
68Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.26482926
69Choreoathetosis (HP:0001266)2.25813764
70Ankyloglossia (HP:0010296)2.22081058
71Lower limb muscle weakness (HP:0007340)2.21278874
72Neurofibrillary tangles (HP:0002185)2.18225668
73Epileptiform EEG discharges (HP:0011182)2.16262956
74EEG with generalized epileptiform discharges (HP:0011198)2.15853527
75Neuronal loss in central nervous system (HP:0002529)2.14298017
76Abnormality of saccadic eye movements (HP:0000570)2.12955236
77Excessive salivation (HP:0003781)2.12092875
78Drooling (HP:0002307)2.12092875
79Hypsarrhythmia (HP:0002521)2.12083208
80Cerebral inclusion bodies (HP:0100314)2.10838321
81Abnormal EKG (HP:0003115)2.09549155
82Progressive inability to walk (HP:0002505)2.07850296
83Amyotrophic lateral sclerosis (HP:0007354)2.07616424
84CNS hypomyelination (HP:0003429)2.05342753
85Obstructive sleep apnea (HP:0002870)2.05212222
86Agitation (HP:0000713)2.04561734
87Morphological abnormality of the pyramidal tract (HP:0002062)2.02809405
88Polyphagia (HP:0002591)2.00865393
89Increased circulating renin level (HP:0000848)1.98422894
90Gait ataxia (HP:0002066)1.95881995
91Lower limb amyotrophy (HP:0007210)1.95402086
92Abnormality of the periventricular white matter (HP:0002518)1.94825248
93Abnormality of the corticospinal tract (HP:0002492)1.93857080
94Postural tremor (HP:0002174)1.91793078
95Incomplete penetrance (HP:0003829)1.91042428
96Neoplasm of the heart (HP:0100544)1.90044563
97Heart block (HP:0012722)1.88605330
98Limb dystonia (HP:0002451)1.88245013
99Fetal akinesia sequence (HP:0001989)1.88033804
100Lower limb asymmetry (HP:0100559)1.87011228
101Aplasia involving bones of the extremities (HP:0009825)1.86786352
102Aplasia involving bones of the upper limbs (HP:0009823)1.86786352
103Aplasia of the phalanges of the hand (HP:0009802)1.86786352
104Rigidity (HP:0002063)1.86355745
105Apathy (HP:0000741)1.83732891
106Prolonged QT interval (HP:0001657)1.83530755
107Degeneration of the lateral corticospinal tracts (HP:0002314)1.82750392
108Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.82750392
109Hyperventilation (HP:0002883)1.82594966
110Distal upper limb amyotrophy (HP:0007149)1.82319699
111Upper limb amyotrophy (HP:0009129)1.82319699
112Spinal canal stenosis (HP:0003416)1.81948870
113Insidious onset (HP:0003587)1.81332567
114Termporal pattern (HP:0011008)1.81332567
115Limb ataxia (HP:0002070)1.76858289
116Rapidly progressive (HP:0003678)1.75690340
117Dementia (HP:0000726)1.74900528
118Generalized myoclonic seizures (HP:0002123)1.74441205
119Slow progression (HP:0003677)1.72768079
120Absent speech (HP:0001344)1.72373178
121Unsteady gait (HP:0002317)1.72077504

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.66175376
2NTRK34.37462366
3MAP3K94.19884304
4PRKD33.06074335
5DAPK22.80075062
6MINK12.59726858
7MARK12.54353060
8MAP3K42.51141088
9PAK62.46460437
10CAMKK12.43257144
11KSR22.40774500
12NTRK22.11293846
13NTRK12.00964243
14STK381.87804119
15MAP2K71.73894793
16RIPK41.72612001
17CASK1.64378145
18TYRO31.61319270
19CDK51.59592945
20DAPK11.54755915
21TAOK11.54060596
22MAP2K41.53653458
23CAMKK21.45661212
24MAP3K21.43501519
25KSR11.42031145
26SIK21.39344036
27RIPK11.36455413
28UHMK11.35131372
29PRPF4B1.29781483
30ALK1.28486223
31PINK11.25439776
32GRK51.23645905
33FES1.23163764
34ARAF1.21257862
35TNIK1.20420234
36MAP3K131.20137317
37PRKCH1.19837362
38PRKCG1.15212730
39STK111.07675864
40CDK191.05243960
41CAMK11.03599132
42MAPK120.92887189
43PNCK0.91749695
44SGK4940.90730381
45SGK2230.90730381
46PHKG20.90718656
47PHKG10.90718656
48CDK150.89919348
49CDK180.87955897
50MARK20.87718586
51MAPK130.87641411
52RET0.86581106
53SGK30.85815461
54MAP3K120.83999543
55PKN10.83903255
56WNK10.82979184
57PDK10.80934353
58CDK140.80715145
59MAP3K10.80171166
60CDK11A0.78800891
61RAF10.78640857
62LATS20.78558780
63NEK10.78302040
64PLK20.78277577
65CDC42BPA0.77733381
66LMTK20.77132981
67SGK20.76096954
68BRSK10.74152453
69CAMK2A0.74054476
70PDPK10.73209757
71TNK20.73016375
72SCYL20.72105067
73SGK10.70717266
74MAP3K110.70477053
75ICK0.65394364
76CAMK2B0.65071016
77PAK30.61740954
78NEK60.61566653
79CAMK40.60736757
80FGFR20.59619207
81BRAF0.58155039
82* RPS6KA30.57302634
83LIMK10.55611988
84PTK2B0.54039227
85MAPK100.53811869
86DYRK1A0.53223158
87TESK10.53086621
88PRKD20.52426333
89CAMK1G0.51251917
90ROCK20.50478177
91FYN0.47157569
92PDGFRA0.46877047
93PRKG20.46546004
94PRKCZ0.46033493
95MAP3K70.44580576
96TRIB30.42936614
97CSNK1G20.42620392
98DAPK30.41829323
99CAMK2G0.40719883
100DDR20.40402086
101MAP2K60.40251985
102BMPR20.40173349
103BMX0.39629415
104ROCK10.39164364
105CAMK2D0.36669509
106HIPK20.34744475
107OXSR10.34569755
108PRKCA0.32906508
109PRKCB0.32802902
110DMPK0.32030067
111MAP2K10.31908357
112MAPK80.31484622
113RPS6KA20.30441738
114ERBB20.29966401
115MAPKAPK50.29713722
116CAMK1D0.27763506
117PRKG10.24417568
118PRKAA10.24065940
119SRC0.23714434

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.25352216
2Synaptic vesicle cycle_Homo sapiens_hsa047213.18668557
3Olfactory transduction_Homo sapiens_hsa047403.03154710
4Circadian entrainment_Homo sapiens_hsa047132.73199711
5Long-term potentiation_Homo sapiens_hsa047202.69010958
6GABAergic synapse_Homo sapiens_hsa047272.67617749
7Glutamatergic synapse_Homo sapiens_hsa047242.61250128
8Amphetamine addiction_Homo sapiens_hsa050312.50205011
9Morphine addiction_Homo sapiens_hsa050322.47579393
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.42859678
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.37392489
12Insulin secretion_Homo sapiens_hsa049112.21000749
13Salivary secretion_Homo sapiens_hsa049702.15638626
14Dopaminergic synapse_Homo sapiens_hsa047282.15146580
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.99552942
16Cholinergic synapse_Homo sapiens_hsa047251.96731292
17Gastric acid secretion_Homo sapiens_hsa049711.96023577
18Cocaine addiction_Homo sapiens_hsa050301.83491775
19Nitrogen metabolism_Homo sapiens_hsa009101.78680805
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75868457
21Long-term depression_Homo sapiens_hsa047301.64037694
22Oxytocin signaling pathway_Homo sapiens_hsa049211.63631859
23Taste transduction_Homo sapiens_hsa047421.63094492
24Renin secretion_Homo sapiens_hsa049241.58453036
25Vitamin B6 metabolism_Homo sapiens_hsa007501.56620369
26Calcium signaling pathway_Homo sapiens_hsa040201.55420379
27Type II diabetes mellitus_Homo sapiens_hsa049301.52681366
28GnRH signaling pathway_Homo sapiens_hsa049121.49178035
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.47244118
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.45304715
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.39346772
32Serotonergic synapse_Homo sapiens_hsa047261.38791186
33Gap junction_Homo sapiens_hsa045401.37197133
34cAMP signaling pathway_Homo sapiens_hsa040241.33807434
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.30056296
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.28137247
37Estrogen signaling pathway_Homo sapiens_hsa049151.23162536
38Glioma_Homo sapiens_hsa052141.16614405
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05332178
40Melanogenesis_Homo sapiens_hsa049161.00078233
41Pancreatic secretion_Homo sapiens_hsa049720.99684039
42Oocyte meiosis_Homo sapiens_hsa041140.98199556
43ErbB signaling pathway_Homo sapiens_hsa040120.98108786
44Phospholipase D signaling pathway_Homo sapiens_hsa040720.94736186
45Dorso-ventral axis formation_Homo sapiens_hsa043200.93922502
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.92939807
47Thyroid hormone synthesis_Homo sapiens_hsa049180.92277110
48Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89163512
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87999220
50Collecting duct acid secretion_Homo sapiens_hsa049660.86383181
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.84956024
52Axon guidance_Homo sapiens_hsa043600.82399304
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76632192
54mTOR signaling pathway_Homo sapiens_hsa041500.76110740
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74388022
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72811631
57Cardiac muscle contraction_Homo sapiens_hsa042600.72664010
58Type I diabetes mellitus_Homo sapiens_hsa049400.72424716
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.72390014
60MAPK signaling pathway_Homo sapiens_hsa040100.71441930
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.71103944
62Dilated cardiomyopathy_Homo sapiens_hsa054140.70912497
63Choline metabolism in cancer_Homo sapiens_hsa052310.70294222
64VEGF signaling pathway_Homo sapiens_hsa043700.67463082
65Bile secretion_Homo sapiens_hsa049760.66509158
66Glucagon signaling pathway_Homo sapiens_hsa049220.65732535
67Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65211643
68Alcoholism_Homo sapiens_hsa050340.62885928
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62498662
70Inositol phosphate metabolism_Homo sapiens_hsa005620.61279625
71Longevity regulating pathway - mammal_Homo sapiens_hsa042110.60357584
72Endocytosis_Homo sapiens_hsa041440.60035295
73Rap1 signaling pathway_Homo sapiens_hsa040150.59426535
74Vibrio cholerae infection_Homo sapiens_hsa051100.59168271
75Non-small cell lung cancer_Homo sapiens_hsa052230.55724817
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53461921
77Phototransduction_Homo sapiens_hsa047440.53404862
78Ras signaling pathway_Homo sapiens_hsa040140.50231572
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.50217311
80Circadian rhythm_Homo sapiens_hsa047100.49953167
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.49595174
82Arginine and proline metabolism_Homo sapiens_hsa003300.49513276
83Endometrial cancer_Homo sapiens_hsa052130.49447203
84Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48317375
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46715491
86Prion diseases_Homo sapiens_hsa050200.44502697
87Insulin signaling pathway_Homo sapiens_hsa049100.44405811
88Fatty acid biosynthesis_Homo sapiens_hsa000610.42765298
89Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42694190
90Chemokine signaling pathway_Homo sapiens_hsa040620.41266674
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39685313
92Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35999175
93Ovarian steroidogenesis_Homo sapiens_hsa049130.35960561
94Wnt signaling pathway_Homo sapiens_hsa043100.35516562
95Renal cell carcinoma_Homo sapiens_hsa052110.35172693
96Mineral absorption_Homo sapiens_hsa049780.32677094
97AMPK signaling pathway_Homo sapiens_hsa041520.32372599
98Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30969043
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.29534549
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29456686
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29406728
102Central carbon metabolism in cancer_Homo sapiens_hsa052300.29070115
103Histidine metabolism_Homo sapiens_hsa003400.28973470
104Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.28620808
105Prolactin signaling pathway_Homo sapiens_hsa049170.28050378
106Platelet activation_Homo sapiens_hsa046110.26400740
107Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25800580
108Arginine biosynthesis_Homo sapiens_hsa002200.25737738
109Tight junction_Homo sapiens_hsa045300.24807672
110HIF-1 signaling pathway_Homo sapiens_hsa040660.24674329
111beta-Alanine metabolism_Homo sapiens_hsa004100.19527337
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.17482259
113ABC transporters_Homo sapiens_hsa020100.17186074

Most similar genes based on co-expression Upload to Enrichr

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