ELAVL2

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 neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.96420527
2vocalization behavior (GO:0071625)5.15481662
3synaptic vesicle exocytosis (GO:0016079)5.15356089
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.94906972
5protein localization to synapse (GO:0035418)4.69357539
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.66361645
7cell migration in hindbrain (GO:0021535)4.65987662
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.64290087
9neuron recognition (GO:0008038)4.59003162
10negative regulation of microtubule polymerization (GO:0031115)4.45517067
11layer formation in cerebral cortex (GO:0021819)4.29723623
12glutamate secretion (GO:0014047)4.25614459
13regulation of synaptic vesicle exocytosis (GO:2000300)4.24322787
14neuronal action potential propagation (GO:0019227)4.20505289
15regulation of glutamate receptor signaling pathway (GO:1900449)4.17302949
16axonal fasciculation (GO:0007413)4.16693629
17neurotransmitter secretion (GO:0007269)4.15804269
18proline transport (GO:0015824)4.14638762
19positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.11034419
20ionotropic glutamate receptor signaling pathway (GO:0035235)3.96673250
21auditory behavior (GO:0031223)3.87776685
22pyrimidine nucleobase catabolic process (GO:0006208)3.87263388
23dendritic spine morphogenesis (GO:0060997)3.85407840
24establishment of mitochondrion localization (GO:0051654)3.78779147
25positive regulation of dendritic spine morphogenesis (GO:0061003)3.74612777
26regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.73989889
27positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.72138983
28regulation of synaptic vesicle transport (GO:1902803)3.70143975
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.69485027
30synaptic vesicle maturation (GO:0016188)3.68902828
31glutamate receptor signaling pathway (GO:0007215)3.61436788
32exploration behavior (GO:0035640)3.56958638
33neuron-neuron synaptic transmission (GO:0007270)3.56500017
34neurotransmitter transport (GO:0006836)3.54627963
35positive regulation of synapse assembly (GO:0051965)3.52801084
36synaptic transmission, glutamatergic (GO:0035249)3.46904310
37mechanosensory behavior (GO:0007638)3.46324420
38behavioral response to nicotine (GO:0035095)3.45757501
39gamma-aminobutyric acid transport (GO:0015812)3.41564340
40cerebellar Purkinje cell differentiation (GO:0021702)3.40295168
41presynaptic membrane assembly (GO:0097105)3.37013948
42piRNA metabolic process (GO:0034587)3.36702949
43mating behavior (GO:0007617)3.35236607
44regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.34275689
45locomotory exploration behavior (GO:0035641)3.32775691
46transmission of nerve impulse (GO:0019226)3.32748722
47synapse assembly (GO:0007416)3.32504936
48postsynaptic membrane organization (GO:0001941)3.30346721
49regulation of neurotransmitter levels (GO:0001505)3.30329877
50regulation of long-term neuronal synaptic plasticity (GO:0048169)3.30042616
51central nervous system projection neuron axonogenesis (GO:0021952)3.29707516
52regulation of vesicle fusion (GO:0031338)3.29322870
53regulation of neuronal synaptic plasticity (GO:0048168)3.28502431
54nucleobase catabolic process (GO:0046113)3.28254519
55synaptic transmission, cholinergic (GO:0007271)3.27792296
56presynaptic membrane organization (GO:0097090)3.21751707
57negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.20488592
58startle response (GO:0001964)3.19352053
59behavioral response to ethanol (GO:0048149)3.18821374
60central nervous system neuron axonogenesis (GO:0021955)3.17958839
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.16945483
62regulation of synapse structural plasticity (GO:0051823)3.16500973
63response to auditory stimulus (GO:0010996)3.15154449
64neuromuscular synaptic transmission (GO:0007274)3.15041592
65establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.14569083
66mitochondrion transport along microtubule (GO:0047497)3.14569083
67dendrite morphogenesis (GO:0048813)3.12585740
68neuronal action potential (GO:0019228)3.11174031
69retinal ganglion cell axon guidance (GO:0031290)3.10898960
70negative regulation of dendrite morphogenesis (GO:0050774)3.09857630
71prepulse inhibition (GO:0060134)3.09832802
72negative regulation of dendrite development (GO:2000171)3.09441209
73gamma-aminobutyric acid signaling pathway (GO:0007214)3.06228179
74cerebral cortex radially oriented cell migration (GO:0021799)3.05699507
75membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.05480283
76regulation of meiosis I (GO:0060631)3.05039436
77regulation of neurotransmitter secretion (GO:0046928)3.04259919
78synaptic vesicle endocytosis (GO:0048488)3.03218855
79hippocampus development (GO:0021766)3.02447949
80regulation of excitatory postsynaptic membrane potential (GO:0060079)3.01721567
81dendrite development (GO:0016358)3.01215836
82synaptic vesicle docking involved in exocytosis (GO:0016081)3.00337127
83regulation of postsynaptic membrane potential (GO:0060078)3.00334340
84response to histamine (GO:0034776)3.00224638
85axon extension (GO:0048675)2.99442630
86intraspecies interaction between organisms (GO:0051703)2.99200645
87social behavior (GO:0035176)2.99200645
88positive regulation of synaptic transmission, GABAergic (GO:0032230)2.98900540
89maternal behavior (GO:0042711)2.98786560
90neurofilament cytoskeleton organization (GO:0060052)2.98653217
91positive regulation of synapse maturation (GO:0090129)2.98258198
92regulation of cAMP-dependent protein kinase activity (GO:2000479)2.96402545
93regulation of synapse assembly (GO:0051963)2.95860473
94serotonin metabolic process (GO:0042428)2.94079486
95membrane hyperpolarization (GO:0060081)2.93634972
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.93364072
97G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.93002424
98innervation (GO:0060384)2.92592475
99regulation of synaptic transmission, glutamatergic (GO:0051966)2.92276783
100sympathetic nervous system development (GO:0048485)2.92114574
101neurotransmitter-gated ion channel clustering (GO:0072578)2.91824208
102establishment of synaptic vesicle localization (GO:0097480)2.91751087
103synaptic vesicle transport (GO:0048489)2.91751087
104dopamine biosynthetic process (GO:0042416)2.91686030
105membrane depolarization during action potential (GO:0086010)2.91322456
106protein localization to cilium (GO:0061512)2.90885777
107regulation of neurotransmitter transport (GO:0051588)2.90086518
108regulation of respiratory system process (GO:0044065)2.89521363
109catecholamine transport (GO:0051937)2.87580999
110synapse organization (GO:0050808)2.87011630
111adult walking behavior (GO:0007628)2.86888104
112membrane depolarization (GO:0051899)2.85308797
113limb bud formation (GO:0060174)2.84874691
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.83856134
115neuronal ion channel clustering (GO:0045161)2.83811366
116positive regulation of potassium ion transmembrane transport (GO:1901381)2.81784334
117phenol-containing compound catabolic process (GO:0019336)2.81560293
118regulation of respiratory gaseous exchange (GO:0043576)2.81239499
119positive regulation of membrane potential (GO:0045838)2.80739780
120synaptic transmission (GO:0007268)2.80372816
121regulation of dendritic spine morphogenesis (GO:0061001)2.79893608
122regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.79480013
123regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.79480013
124neural tube formation (GO:0001841)2.77373054
125ganglion development (GO:0061548)2.75077999
126adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.74485818
127spinal cord development (GO:0021510)2.73611760
128positive regulation of dendritic spine development (GO:0060999)2.72702174
129neuron migration (GO:0001764)2.70732866
130primary amino compound metabolic process (GO:1901160)2.70687024
131olfactory bulb development (GO:0021772)2.69762924
132positive regulation of meiosis (GO:0045836)2.65779658
133adult behavior (GO:0030534)2.64450485
134calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.63979966
135protein polyglutamylation (GO:0018095)2.63501158
136substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.62769917
137substrate-independent telencephalic tangential migration (GO:0021826)2.62769917
138axonogenesis (GO:0007409)2.62033884
139negative regulation of cytosolic calcium ion concentration (GO:0051481)2.61291661

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.59427619
2GBX2_23144817_ChIP-Seq_PC3_Human3.76015930
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97990155
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.89607370
5NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.77770811
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71228881
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.69240997
8* TAF15_26573619_Chip-Seq_HEK293_Human2.67485564
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.53041105
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.47523098
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.47523098
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.47056641
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.38860475
14* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.37946011
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.36861488
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.31367216
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.31224777
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27357585
19* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.24073501
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.18330145
21ZFP57_27257070_Chip-Seq_ESCs_Mouse2.12033576
22* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11885428
23MTF2_20144788_ChIP-Seq_MESCs_Mouse2.10085192
24IGF1R_20145208_ChIP-Seq_DFB_Human2.09892777
25* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.07659012
26* REST_18959480_ChIP-ChIP_MESCs_Mouse2.02650099
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02058484
28SUZ12_27294783_Chip-Seq_ESCs_Mouse2.00044173
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.99368706
30* CBX2_27304074_Chip-Seq_ESCs_Mouse1.97901185
31EZH2_27294783_Chip-Seq_ESCs_Mouse1.97498024
32RNF2_27304074_Chip-Seq_NSC_Mouse1.91500051
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.90666997
34P300_19829295_ChIP-Seq_ESCs_Human1.80777393
35* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71393460
36* SMAD4_21799915_ChIP-Seq_A2780_Human1.70186188
37FUS_26573619_Chip-Seq_HEK293_Human1.67880739
38* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.65745955
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64939823
40RARB_27405468_Chip-Seq_BRAIN_Mouse1.60780851
41ZNF274_21170338_ChIP-Seq_K562_Hela1.58671201
42* AR_21572438_ChIP-Seq_LNCaP_Human1.56344059
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.55914267
44* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55885659
45* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.55071016
46IKZF1_21737484_ChIP-ChIP_HCT116_Human1.46253037
47* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45250034
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44778328
49VDR_22108803_ChIP-Seq_LS180_Human1.43893976
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42414861
51DROSHA_22980978_ChIP-Seq_HELA_Human1.42050967
52* PIAS1_25552417_ChIP-Seq_VCAP_Human1.37700459
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.37563713
54MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.37542091
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37038754
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36493597
57CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35953794
58* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34828007
59RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.33626320
60* AR_25329375_ChIP-Seq_VCAP_Human1.33566596
61* SOX2_21211035_ChIP-Seq_LN229_Gbm1.31940456
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29303596
63ERG_21242973_ChIP-ChIP_JURKAT_Human1.27036363
64AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24743863
65MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23047189
66STAT3_23295773_ChIP-Seq_U87_Human1.21999288
67TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20960594
68POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20960594
69RING1B_27294783_Chip-Seq_ESCs_Mouse1.19988115
70SMAD_19615063_ChIP-ChIP_OVARY_Human1.19910979
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.19776421
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19599475
73CBP_20019798_ChIP-Seq_JUKART_Human1.19599475
74JUN_21703547_ChIP-Seq_K562_Human1.18826644
75RUNX2_22187159_ChIP-Seq_PCA_Human1.18401392
76GATA1_26923725_Chip-Seq_HPCs_Mouse1.16444109
77CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15497187
78TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14554718
79EWS_26573619_Chip-Seq_HEK293_Human1.13582041
80ER_23166858_ChIP-Seq_MCF-7_Human1.13492431
81RING1B_27294783_Chip-Seq_NPCs_Mouse1.10387503
82MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.09273692
83CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08996143
84* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08509595
85TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07969088
86* TCF4_23295773_ChIP-Seq_U87_Human1.06539039
87* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04654887
88* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04483835
89* NANOG_18555785_Chip-Seq_ESCs_Mouse1.04458561
90P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04378119
91* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04334828
92PRDM14_20953172_ChIP-Seq_ESCs_Human1.04237456
93MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04111179
94SOX9_26525672_Chip-Seq_HEART_Mouse1.03075420
95TAL1_26923725_Chip-Seq_HPCs_Mouse1.01917934
96AR_19668381_ChIP-Seq_PC3_Human1.00786174
97FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.00431724
98EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99889862
99* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99406497
100FLI1_27457419_Chip-Seq_LIVER_Mouse0.98957757
101KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98239438
102ARNT_22903824_ChIP-Seq_MCF-7_Human0.97582648
103IRF1_19129219_ChIP-ChIP_H3396_Human0.97155585
104* BCAT_22108803_ChIP-Seq_LS180_Human0.97153196
105BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96469719
106AHR_22903824_ChIP-Seq_MCF-7_Human0.95019414
107GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.94868972
108KLF5_20875108_ChIP-Seq_MESCs_Mouse0.94829796
109SALL1_21062744_ChIP-ChIP_HESCs_Human0.94592780
110TP63_19390658_ChIP-ChIP_HaCaT_Human0.94454352
111* POU5F1_16153702_ChIP-ChIP_HESCs_Human0.94191410
112NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92812377
113KDM2B_26808549_Chip-Seq_REH_Human0.92747410
114* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.92602776

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.66643949
2MP0004859_abnormal_synaptic_plasticity4.09061806
3MP0004270_analgesia3.61300257
4MP0006276_abnormal_autonomic_nervous3.53829651
5MP0003635_abnormal_synaptic_transmissio3.38315617
6MP0001968_abnormal_touch/_nociception3.01750696
7MP0002734_abnormal_mechanical_nocicepti2.94191944
8MP0002735_abnormal_chemical_nociception2.85896395
9MP0009745_abnormal_behavioral_response2.83987115
10MP0009046_muscle_twitch2.78259480
11MP0002063_abnormal_learning/memory/cond2.76047548
12MP0005423_abnormal_somatic_nervous2.70956765
13MP0002064_seizures2.61800622
14MP0002572_abnormal_emotion/affect_behav2.54732220
15MP0000778_abnormal_nervous_system2.48798002
16MP0002736_abnormal_nociception_after2.44911213
17MP0002822_catalepsy2.44259146
18MP0002733_abnormal_thermal_nociception2.44060824
19MP0002184_abnormal_innervation2.39175071
20MP0002272_abnormal_nervous_system2.33209926
21MP0001529_abnormal_vocalization2.25370593
22MP0001486_abnormal_startle_reflex2.22468387
23MP0001970_abnormal_pain_threshold2.19109850
24MP0001440_abnormal_grooming_behavior2.12503112
25MP0002067_abnormal_sensory_capabilities2.03267937
26MP0001905_abnormal_dopamine_level1.99680283
27MP0001501_abnormal_sleep_pattern1.90245930
28MP0005386_behavior/neurological_phenoty1.86782023
29MP0004924_abnormal_behavior1.86782023
30MP0003122_maternal_imprinting1.84931309
31MP0001188_hyperpigmentation1.79789728
32MP0002557_abnormal_social/conspecific_i1.78869459
33MP0000955_abnormal_spinal_cord1.73518910
34MP0004811_abnormal_neuron_physiology1.66509876
35MP0003787_abnormal_imprinting1.63845699
36MP0001984_abnormal_olfaction1.62682649
37MP0004133_heterotaxia1.56788757
38MP0010386_abnormal_urinary_bladder1.55358765
39MP0004858_abnormal_nervous_system1.54722572
40MP0005645_abnormal_hypothalamus_physiol1.53509217
41MP0002882_abnormal_neuron_morphology1.50917799
42MP0004142_abnormal_muscle_tone1.48342384
43MP0002638_abnormal_pupillary_reflex1.47667479
44MP0002751_abnormal_autonomic_nervous1.41358715
45MP0000569_abnormal_digit_pigmentation1.38144083
46MP0005646_abnormal_pituitary_gland1.37245952
47MP0002066_abnormal_motor_capabilities/c1.35534289
48MP0005499_abnormal_olfactory_system1.31892868
49MP0005394_taste/olfaction_phenotype1.31892868
50MP0002102_abnormal_ear_morphology1.29059829
51MP0003329_amyloid_beta_deposits1.26732634
52MP0008569_lethality_at_weaning1.26585528
53MP0002152_abnormal_brain_morphology1.23794947
54MP0003121_genomic_imprinting1.18686735
55MP0000566_synostosis1.17029026
56MP0002909_abnormal_adrenal_gland1.16789077
57MP0004742_abnormal_vestibular_system1.16583766
58MP0005253_abnormal_eye_physiology1.12940854
59MP0000631_abnormal_neuroendocrine_gland1.12589363
60MP0002752_abnormal_somatic_nervous1.12293189
61MP0003119_abnormal_digestive_system1.08313080
62MP0000049_abnormal_middle_ear1.08226891
63MP0002837_dystrophic_cardiac_calcinosis1.07911287
64MP0008789_abnormal_olfactory_epithelium1.07100730
65MP0009379_abnormal_foot_pigmentation1.03811312
66MP0003861_abnormal_nervous_system1.00087090
67MP0001502_abnormal_circadian_rhythm0.98139790
68MP0000751_myopathy0.96802194
69MP0002234_abnormal_pharynx_morphology0.95815773
70MP0008872_abnormal_physiological_respon0.95179561
71MP0004885_abnormal_endolymph0.92524467
72MP0002938_white_spotting0.92008483
73MP0000538_abnormal_urinary_bladder0.91463667
74MP0001963_abnormal_hearing_physiology0.90900570
75MP0003567_abnormal_fetal_cardiomyocyte0.86678157
76MP0005195_abnormal_posterior_eye0.85906758
77MP0003937_abnormal_limbs/digits/tail_de0.84332977
78MP0002229_neurodegeneration0.83519158
79MP0006292_abnormal_olfactory_placode0.83468037
80MP0003879_abnormal_hair_cell0.83243893
81MP0003698_abnormal_male_reproductive0.82971039
82MP0002069_abnormal_eating/drinking_beha0.82520520
83MP0008877_abnormal_DNA_methylation0.81459262
84MP0005409_darkened_coat_color0.79316132
85MP0002163_abnormal_gland_morphology0.79201267
86MP0003123_paternal_imprinting0.78593430
87MP0006072_abnormal_retinal_apoptosis0.78551801
88MP0003631_nervous_system_phenotype0.78339287
89MP0001293_anophthalmia0.78047984
90MP0001986_abnormal_taste_sensitivity0.77617827
91MP0002081_perinatal_lethality0.77026022
92MP0000026_abnormal_inner_ear0.76603522
93MP0002210_abnormal_sex_determination0.76431631
94MP0004085_abnormal_heartbeat0.75911551
95MP0005551_abnormal_eye_electrophysiolog0.75451439
96MP0002653_abnormal_ependyma_morphology0.73432248
97MP0003632_abnormal_nervous_system0.71533947
98MP0002928_abnormal_bile_duct0.71185694
99MP0003633_abnormal_nervous_system0.70661508
100MP0003938_abnormal_ear_development0.69302366
101MP0001485_abnormal_pinna_reflex0.68521061
102MP0002233_abnormal_nose_morphology0.68241613
103MP0005391_vision/eye_phenotype0.67773322
104MP0003634_abnormal_glial_cell0.67520838
105MP0009780_abnormal_chondrocyte_physiolo0.67271124
106MP0005187_abnormal_penis_morphology0.67141798
107MP0003315_abnormal_perineum_morphology0.66993817
108MP0001943_abnormal_respiration0.66524669
109MP0001299_abnormal_eye_distance/0.66284508
110MP0000647_abnormal_sebaceous_gland0.65249482
111MP0003890_abnormal_embryonic-extraembry0.64223202
112MP0010770_preweaning_lethality0.62129978
113MP0002082_postnatal_lethality0.62129978
114MP0003137_abnormal_impulse_conducting0.60438202
115MP0002876_abnormal_thyroid_physiology0.59838666
116MP0001177_atelectasis0.58720444
117MP0010769_abnormal_survival0.58675346
118MP0005535_abnormal_body_temperature0.58148054
119MP0004145_abnormal_muscle_electrophysio0.58138398

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.96118714
2Myokymia (HP:0002411)5.32496359
3Atonic seizures (HP:0010819)4.85003369
4Focal seizures (HP:0007359)4.78294629
5Limb dystonia (HP:0002451)4.60452999
6Febrile seizures (HP:0002373)4.20429352
7Progressive cerebellar ataxia (HP:0002073)3.96802225
8Visual hallucinations (HP:0002367)3.95481595
9Epileptic encephalopathy (HP:0200134)3.68929685
10Absence seizures (HP:0002121)3.60913278
11Hypothermia (HP:0002045)3.40037055
12Amblyopia (HP:0000646)3.34153391
13Generalized tonic-clonic seizures (HP:0002069)3.26899289
14Dialeptic seizures (HP:0011146)3.20686669
15Progressive inability to walk (HP:0002505)3.19370849
16Failure to thrive in infancy (HP:0001531)3.09751183
17Insidious onset (HP:0003587)2.93811026
18Termporal pattern (HP:0011008)2.93811026
19Broad-based gait (HP:0002136)2.92420402
20Polyphagia (HP:0002591)2.90939034
21Pheochromocytoma (HP:0002666)2.89712046
22Abnormality of the labia minora (HP:0012880)2.87768965
23Hyperventilation (HP:0002883)2.85176112
24Excessive salivation (HP:0003781)2.78579870
25Drooling (HP:0002307)2.78579870
26Ankle clonus (HP:0011448)2.72083311
27Abnormal hair whorl (HP:0010721)2.68253220
28Abnormality of the corticospinal tract (HP:0002492)2.66919406
29Mutism (HP:0002300)2.63514771
30Ulnar claw (HP:0001178)2.62415101
31Nephronophthisis (HP:0000090)2.61561020
32Action tremor (HP:0002345)2.60122640
33Neuroendocrine neoplasm (HP:0100634)2.59406917
34Fetal akinesia sequence (HP:0001989)2.58299068
35Retinal dysplasia (HP:0007973)2.50965681
36Volvulus (HP:0002580)2.50673873
37Supranuclear gaze palsy (HP:0000605)2.50302116
38Exotropia (HP:0000577)2.48547037
39Abnormal eating behavior (HP:0100738)2.48527385
40Hypoplasia of the brainstem (HP:0002365)2.48205017
41Aplasia/Hypoplasia of the brainstem (HP:0007362)2.48205017
42Gait imbalance (HP:0002141)2.47262316
43Hyperthyroidism (HP:0000836)2.44852090
44Amyotrophic lateral sclerosis (HP:0007354)2.43194034
45Pachygyria (HP:0001302)2.42812320
46Inability to walk (HP:0002540)2.42171188
47Impaired vibration sensation in the lower limbs (HP:0002166)2.41432596
48Truncal ataxia (HP:0002078)2.37594850
49Molar tooth sign on MRI (HP:0002419)2.37463095
50Abnormality of midbrain morphology (HP:0002418)2.37463095
51Agitation (HP:0000713)2.36673399
52Esotropia (HP:0000565)2.34952311
53Urinary urgency (HP:0000012)2.34848190
54Urinary bladder sphincter dysfunction (HP:0002839)2.33564077
55Epileptiform EEG discharges (HP:0011182)2.31483774
56EEG with generalized epileptiform discharges (HP:0011198)2.30857596
57Pancreatic fibrosis (HP:0100732)2.28380836
58Intestinal atresia (HP:0011100)2.28069464
59Pancreatic cysts (HP:0001737)2.26383042
60Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.25832822
61Oligodactyly (hands) (HP:0001180)2.25775782
62Specific learning disability (HP:0001328)2.24784034
63Hypsarrhythmia (HP:0002521)2.22603142
64Acute necrotizing encephalopathy (HP:0006965)2.21577713
65Abnormality of the lower motor neuron (HP:0002366)2.19276688
66True hermaphroditism (HP:0010459)2.18551094
67Type II lissencephaly (HP:0007260)2.18243815
68Absent speech (HP:0001344)2.15663060
69Abnormality of the renal medulla (HP:0100957)2.15477078
70Progressive macrocephaly (HP:0004481)2.14362330
71Hypoventilation (HP:0002791)2.12339584
72Optic nerve hypoplasia (HP:0000609)2.09898439
73Anxiety (HP:0000739)2.09788776
74Spastic gait (HP:0002064)2.09296657
75Cortical dysplasia (HP:0002539)2.07071755
76Hepatoblastoma (HP:0002884)2.06535433
77Gaze-evoked nystagmus (HP:0000640)2.06530638
78Poor suck (HP:0002033)2.06317290
79Genital tract atresia (HP:0001827)2.05740802
80Spastic tetraplegia (HP:0002510)2.04312938
81Lissencephaly (HP:0001339)2.04116841
82Chronic hepatic failure (HP:0100626)2.03616877
83Shoulder girdle muscle weakness (HP:0003547)2.01653338
84Dysdiadochokinesis (HP:0002075)1.97474582
85Morphological abnormality of the pyramidal tract (HP:0002062)1.97273060
86Hemiparesis (HP:0001269)1.96948843
87Impaired pain sensation (HP:0007328)1.95038972
88Abnormality of pain sensation (HP:0010832)1.95038972
89Poor eye contact (HP:0000817)1.93831749
90Abnormality of salivation (HP:0100755)1.93795452
91Medial flaring of the eyebrow (HP:0010747)1.93392517
92Depression (HP:0000716)1.92980631
93Protruding tongue (HP:0010808)1.91804643
94Akinesia (HP:0002304)1.90493454
95Vaginal atresia (HP:0000148)1.89297513
96Congenital primary aphakia (HP:0007707)1.88426724
97Papilledema (HP:0001085)1.88057311
98Abnormal mitochondria in muscle tissue (HP:0008316)1.87758623
99Degeneration of the lateral corticospinal tracts (HP:0002314)1.87111702
100Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.87111702
101Cutaneous finger syndactyly (HP:0010554)1.87035411
102Cerebral inclusion bodies (HP:0100314)1.86873020
103Anencephaly (HP:0002323)1.82994159
104Narrow forehead (HP:0000341)1.82911345
105Megalencephaly (HP:0001355)1.82733297
106Pendular nystagmus (HP:0012043)1.82005779
107Impaired social interactions (HP:0000735)1.81075421
108Abnormal social behavior (HP:0012433)1.81075421
109Dysmetria (HP:0001310)1.80575841
110Aplasia/Hypoplasia of the tibia (HP:0005772)1.80061419
111Orthostatic hypotension (HP:0001278)1.79879428
112Generalized hypotonia (HP:0001290)1.78642130
113Genetic anticipation (HP:0003743)1.76960353
114Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.75744100
115Abnormality of binocular vision (HP:0011514)1.75649089
116Diplopia (HP:0000651)1.75649089
117Status epilepticus (HP:0002133)1.75206696
118Thyroid-stimulating hormone excess (HP:0002925)1.74463040
119Nephrogenic diabetes insipidus (HP:0009806)1.74163402
120Delayed gross motor development (HP:0002194)1.73585068
121Facial hemangioma (HP:0000329)1.73450465
122Incomplete penetrance (HP:0003829)1.73260388
123Postaxial hand polydactyly (HP:0001162)1.73007110
124Abnormal respiratory epithelium morphology (HP:0012253)1.72447589
125Abnormal respiratory motile cilium morphology (HP:0005938)1.72447589
126Morphological abnormality of the middle ear (HP:0008609)1.72367937
127Patellar aplasia (HP:0006443)1.72097787
128Thyroid carcinoma (HP:0002890)1.71417528
129Sleep apnea (HP:0010535)1.70856506
130Abnormality of the vocal cords (HP:0008777)1.70170009
131Poor coordination (HP:0002370)1.69644243
132Lower limb muscle weakness (HP:0007340)1.69575623
133Gastroesophageal reflux (HP:0002020)1.69558807
134Renal hypoplasia (HP:0000089)1.69347029
135Sporadic (HP:0003745)1.69272790
136Short tibia (HP:0005736)1.68012412
137Micropenis (HP:0000054)1.67365873
138Abnormal ciliary motility (HP:0012262)1.65208110
139Hypoplasia of the corpus callosum (HP:0002079)1.64893925
140Muscular hypotonia of the trunk (HP:0008936)1.64383559
141Bony spicule pigmentary retinopathy (HP:0007737)1.59356557
142Aplasia/Hypoplasia of the patella (HP:0006498)1.58216453

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.68968204
2NTRK33.74364125
3MAP3K43.56775065
4MAP3K93.13040922
5MAP2K73.11523975
6CASK3.10218894
7MAP3K122.78973956
8MINK12.75534083
9PNCK2.72378057
10MAPK132.33402583
11NTRK22.32206495
12LATS22.10326066
13MAP2K42.05227073
14NTRK12.04991806
15EPHA41.98437223
16GRK51.83768166
17KSR11.77532680
18PAK61.73488792
19DYRK21.66242056
20PLK21.60022665
21SIK21.58925571
22TRIM281.51288958
23PINK11.51019303
24CSNK1G21.43804717
25KSR21.40063292
26UHMK11.39927156
27DAPK21.28092983
28PHKG11.27450032
29PHKG21.27450032
30CSNK1G31.26570952
31CDK51.25922794
32GRK71.22499907
33TNIK1.18452335
34DYRK31.16508918
35MAP4K21.15138786
36WNK31.14262228
37BCR1.04492111
38PRKCG1.03816379
39CAMK2A1.03517347
40MAP3K61.02596392
41CDK190.99991404
42EPHA30.99505284
43DAPK10.98224719
44LIMK10.97285942
45FRK0.96554301
46CDK140.94008258
47NME10.93382690
48CDK180.91176615
49ERBB40.90891586
50BMPR1B0.90183215
51PAK30.86541567
52CDK150.86266761
53DYRK1A0.85644122
54CSNK1G10.82733073
55SGK4940.82467229
56SGK2230.82467229
57CAMK1G0.81911630
58INSRR0.81533855
59ADRBK10.80670149
60FGR0.78749367
61RET0.75579525
62CDK11A0.74884011
63ARAF0.72836036
64MUSK0.72328000
65CAMK10.71410757
66ERBB30.70834469
67CAMK2B0.70711893
68DYRK1B0.68976225
69MKNK20.68741840
70ACVR1B0.67974737
71SGK20.67068674
72RIPK40.66282936
73WNK40.65488802
74OXSR10.64618964
75EPHB20.63859686
76CSNK1A1L0.62154796
77STK110.61535071
78ADRBK20.60443118
79CDK30.60011983
80PRKCE0.59663562
81ZAK0.59192466
82CAMK40.58436064
83PRPF4B0.57064228
84FES0.56856778
85SIK30.55913148
86MAP3K20.55306748
87PRKCZ0.54761394
88TYRO30.54619103
89LMTK20.54323173
90MAP2K10.52719083
91AKT30.51115549
92CAMKK20.49932467
93RPS6KA20.49471234
94GRK10.48967678
95BRAF0.47209040
96TLK10.47009284
97CAMK2D0.46705370
98STK38L0.46602779
99PLK40.46331666
100ERBB20.46037446
101CSNK1E0.44951158
102MARK20.44179234
103RPS6KA40.43517522
104ROCK20.43416058
105LATS10.42749980
106STK380.42616579
107BMPR20.42096565
108PRKG10.41649394
109CDK80.41627111
110MAPK150.40508011
111PLK30.40487798
112CAMKK10.38173374
113PTK2B0.38156075
114CSNK1D0.37834696
115NUAK10.37569479
116MKNK10.37457410
117PKN10.35843494
118CAMK2G0.35414371
119SGK10.35353751
120PRKACA0.35144233
121MAPK100.34985756
122TAF10.34813320
123MAPKAPK50.34233734
124STK390.34106492
125TSSK60.33642622
126SRPK10.33570357
127PRKACB0.33315648
128FER0.32200582
129GSK3B0.31857563
130RAF10.31841406
131MATK0.31378151
132RPS6KA30.30111705
133YES10.29925400
134MAPK90.29067782

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.06764307
2Synaptic vesicle cycle_Homo sapiens_hsa047213.71977404
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.65691976
4GABAergic synapse_Homo sapiens_hsa047272.49783858
5Dopaminergic synapse_Homo sapiens_hsa047282.36120320
6Oxidative phosphorylation_Homo sapiens_hsa001902.29153030
7Amphetamine addiction_Homo sapiens_hsa050312.27369959
8Collecting duct acid secretion_Homo sapiens_hsa049662.26040854
9Glutamatergic synapse_Homo sapiens_hsa047242.23988430
10Serotonergic synapse_Homo sapiens_hsa047262.23513921
11Olfactory transduction_Homo sapiens_hsa047402.20952123
12Long-term potentiation_Homo sapiens_hsa047202.20293419
13Taste transduction_Homo sapiens_hsa047422.15107867
14Morphine addiction_Homo sapiens_hsa050322.15056264
15Circadian entrainment_Homo sapiens_hsa047132.13881502
16Cocaine addiction_Homo sapiens_hsa050301.97929689
17Parkinsons disease_Homo sapiens_hsa050121.94210350
18Cholinergic synapse_Homo sapiens_hsa047251.94023800
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.84754197
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.83947052
21Long-term depression_Homo sapiens_hsa047301.83939870
22Alzheimers disease_Homo sapiens_hsa050101.65264650
23Axon guidance_Homo sapiens_hsa043601.64032731
24Insulin secretion_Homo sapiens_hsa049111.62988941
25Cardiac muscle contraction_Homo sapiens_hsa042601.58694399
26Salivary secretion_Homo sapiens_hsa049701.55869551
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.46782451
28Gap junction_Homo sapiens_hsa045401.45072155
29Renin secretion_Homo sapiens_hsa049241.44211609
30Huntingtons disease_Homo sapiens_hsa050161.42663683
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.41200317
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39846588
33Vibrio cholerae infection_Homo sapiens_hsa051101.37588802
34Gastric acid secretion_Homo sapiens_hsa049711.37548708
35GnRH signaling pathway_Homo sapiens_hsa049121.35448008
36Oxytocin signaling pathway_Homo sapiens_hsa049211.32856420
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32565089
38Calcium signaling pathway_Homo sapiens_hsa040201.25659608
39Aldosterone synthesis and secretion_Homo sapiens_hsa049251.25400981
40Basal transcription factors_Homo sapiens_hsa030221.22777434
41Oocyte meiosis_Homo sapiens_hsa041141.21902468
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18603848
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.17934912
44Steroid biosynthesis_Homo sapiens_hsa001001.17325775
45ErbB signaling pathway_Homo sapiens_hsa040121.13952431
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10713531
47Estrogen signaling pathway_Homo sapiens_hsa049151.08422334
48Phototransduction_Homo sapiens_hsa047441.00400276
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99619173
50Protein export_Homo sapiens_hsa030600.97683786
51Melanogenesis_Homo sapiens_hsa049160.96315933
52Dorso-ventral axis formation_Homo sapiens_hsa043200.95796848
53Regulation of autophagy_Homo sapiens_hsa041400.93494195
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.88091710
55cAMP signaling pathway_Homo sapiens_hsa040240.87707707
56Glioma_Homo sapiens_hsa052140.86866743
57Alcoholism_Homo sapiens_hsa050340.84731412
58Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.84389907
59Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.83747261
60Ether lipid metabolism_Homo sapiens_hsa005650.75087679
61Type II diabetes mellitus_Homo sapiens_hsa049300.73940993
62Hippo signaling pathway_Homo sapiens_hsa043900.73283529
63Linoleic acid metabolism_Homo sapiens_hsa005910.72411050
64Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72146524
65Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.71726917
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69494262
67Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.69220675
68Colorectal cancer_Homo sapiens_hsa052100.68744628
69MAPK signaling pathway_Homo sapiens_hsa040100.66891400
70Vascular smooth muscle contraction_Homo sapiens_hsa042700.66715337
71cGMP-PKG signaling pathway_Homo sapiens_hsa040220.66520457
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66396615
73Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.66094656
74Basal cell carcinoma_Homo sapiens_hsa052170.64445579
75Choline metabolism in cancer_Homo sapiens_hsa052310.63625572
76Maturity onset diabetes of the young_Homo sapiens_hsa049500.62642213
77Endometrial cancer_Homo sapiens_hsa052130.60041413
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.59750786
79Selenocompound metabolism_Homo sapiens_hsa004500.59554145
80Wnt signaling pathway_Homo sapiens_hsa043100.59324777
81Butanoate metabolism_Homo sapiens_hsa006500.57379898
82Renal cell carcinoma_Homo sapiens_hsa052110.57162158
83Ras signaling pathway_Homo sapiens_hsa040140.56865018
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.56353582
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.54217212
86Fanconi anemia pathway_Homo sapiens_hsa034600.54139161
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53658583
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51886125
89Phagosome_Homo sapiens_hsa041450.51662932
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50399175
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48215371
92Tryptophan metabolism_Homo sapiens_hsa003800.48068147
93Ovarian steroidogenesis_Homo sapiens_hsa049130.46449427
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.44451366
95Thyroid hormone synthesis_Homo sapiens_hsa049180.44187161
96Type I diabetes mellitus_Homo sapiens_hsa049400.43925243
97Hedgehog signaling pathway_Homo sapiens_hsa043400.43420510
98Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43182430
99mRNA surveillance pathway_Homo sapiens_hsa030150.42253593
100Insulin signaling pathway_Homo sapiens_hsa049100.40368917
101Dilated cardiomyopathy_Homo sapiens_hsa054140.40124665
102Pancreatic secretion_Homo sapiens_hsa049720.40018827
103Rap1 signaling pathway_Homo sapiens_hsa040150.39811173
104Melanoma_Homo sapiens_hsa052180.39088535
105Glucagon signaling pathway_Homo sapiens_hsa049220.38928719
106Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.38376095
107Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38040161
108Rheumatoid arthritis_Homo sapiens_hsa053230.37829968
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37668218
110VEGF signaling pathway_Homo sapiens_hsa043700.36162623
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35859230
112Nitrogen metabolism_Homo sapiens_hsa009100.34882332
113RNA degradation_Homo sapiens_hsa030180.34085197
114Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.33775651
115mTOR signaling pathway_Homo sapiens_hsa041500.33607068
116Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32450100
117Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32034564
118Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31733146
119Prion diseases_Homo sapiens_hsa050200.28695875
120Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.28624014
121Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.28124635
122Fatty acid biosynthesis_Homo sapiens_hsa000610.27739812
123Tyrosine metabolism_Homo sapiens_hsa003500.27197373
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27108530
125Prolactin signaling pathway_Homo sapiens_hsa049170.26664963
126Circadian rhythm_Homo sapiens_hsa047100.25225190

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