LRP1B

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.52032100
2ionotropic glutamate receptor signaling pathway (GO:0035235)5.45309212
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.03111901
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.00166330
5presynaptic membrane assembly (GO:0097105)4.99896431
6glutamate receptor signaling pathway (GO:0007215)4.98193278
7vocalization behavior (GO:0071625)4.93621215
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.91623463
9synaptic transmission, glutamatergic (GO:0035249)4.67511047
10presynaptic membrane organization (GO:0097090)4.61103985
11neuronal action potential propagation (GO:0019227)4.46580585
12regulation of glutamate receptor signaling pathway (GO:1900449)4.45536588
13locomotory exploration behavior (GO:0035641)4.45254150
14neuron-neuron synaptic transmission (GO:0007270)4.41065058
15neurotransmitter-gated ion channel clustering (GO:0072578)4.32171883
16protein localization to synapse (GO:0035418)4.29753216
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.23500789
18synaptic vesicle exocytosis (GO:0016079)4.19018150
19G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.16238357
20startle response (GO:0001964)4.08393344
21regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.08205458
22postsynaptic membrane organization (GO:0001941)3.99236586
23glutamate secretion (GO:0014047)3.97977098
24positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.94956960
25transmission of nerve impulse (GO:0019226)3.89978070
26gamma-aminobutyric acid signaling pathway (GO:0007214)3.88448375
27membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.87616192
28central nervous system myelination (GO:0022010)3.85240314
29axon ensheathment in central nervous system (GO:0032291)3.85240314
30neuron recognition (GO:0008038)3.81951456
31negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.80164061
32regulation of neuronal synaptic plasticity (GO:0048168)3.74702021
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.74575006
34exploration behavior (GO:0035640)3.69942423
35regulation of synaptic transmission, glutamatergic (GO:0051966)3.68833765
36regulation of excitatory postsynaptic membrane potential (GO:0060079)3.68729535
37sodium ion export (GO:0071436)3.61985063
38long-term memory (GO:0007616)3.60999281
39auditory behavior (GO:0031223)3.60112645
40synaptic vesicle maturation (GO:0016188)3.60054898
41L-amino acid import (GO:0043092)3.57754459
42regulation of synaptic vesicle exocytosis (GO:2000300)3.57158682
43axonal fasciculation (GO:0007413)3.55512644
44regulation of postsynaptic membrane potential (GO:0060078)3.55108569
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.52290827
46positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.51762832
47negative regulation of neurotransmitter transport (GO:0051589)3.49881853
48positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.49840813
49mechanosensory behavior (GO:0007638)3.48854247
50synaptic vesicle docking involved in exocytosis (GO:0016081)3.48493381
51behavioral fear response (GO:0001662)3.45316542
52behavioral defense response (GO:0002209)3.45316542
53membrane assembly (GO:0071709)3.44989211
54long-term synaptic potentiation (GO:0060291)3.44010972
55negative regulation of cytosolic calcium ion concentration (GO:0051481)3.42185831
56positive regulation of membrane potential (GO:0045838)3.41419615
57response to histamine (GO:0034776)3.40828206
58gamma-aminobutyric acid transport (GO:0015812)3.38278434
59cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37869064
60cerebellar granule cell differentiation (GO:0021707)3.35602438
61neurotransmitter secretion (GO:0007269)3.33186967
62positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.32913167
63positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.31450933
64regulation of synaptic vesicle transport (GO:1902803)3.29501316
65regulation of synaptic plasticity (GO:0048167)3.29042542
66adult walking behavior (GO:0007628)3.28291345
67regulation of synapse structural plasticity (GO:0051823)3.27024332
68positive regulation of synapse maturation (GO:0090129)3.26015524
69regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.23599772
70membrane hyperpolarization (GO:0060081)3.21626635
71C4-dicarboxylate transport (GO:0015740)3.21256156
72regulation of dendritic spine morphogenesis (GO:0061001)3.20210211
73fear response (GO:0042596)3.17493609
74regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.16879292
75dendritic spine morphogenesis (GO:0060997)3.16645971
76regulation of glutamate secretion (GO:0014048)3.16359215
77response to auditory stimulus (GO:0010996)3.16090074
78neurotransmitter uptake (GO:0001504)3.14915342
79membrane depolarization (GO:0051899)3.14780262
80potassium ion import (GO:0010107)3.11677731
81membrane depolarization during action potential (GO:0086010)3.11544494
82cellular sodium ion homeostasis (GO:0006883)3.11349793
83cellular potassium ion homeostasis (GO:0030007)3.07114549
84innervation (GO:0060384)3.05448889
85learning (GO:0007612)3.04555119
86nerve growth factor signaling pathway (GO:0038180)3.04135507
87negative regulation of amino acid transport (GO:0051956)3.03748760
88potassium ion homeostasis (GO:0055075)3.02898609
89positive regulation of synapse assembly (GO:0051965)3.01735392
90synapse assembly (GO:0007416)3.01728438
91cerebellar Purkinje cell differentiation (GO:0021702)2.98902879
92positive regulation of dendritic spine development (GO:0060999)2.98094948
93neurotransmitter transport (GO:0006836)2.97994602
94negative regulation of neurotransmitter secretion (GO:0046929)2.97824618
95neuronal ion channel clustering (GO:0045161)2.96908476
96positive regulation of synaptic transmission, GABAergic (GO:0032230)2.96605828
97regulation of neuron projection regeneration (GO:0070570)2.95028414
98regulation of axon regeneration (GO:0048679)2.95028414
99serotonin metabolic process (GO:0042428)2.94199660
100dendrite morphogenesis (GO:0048813)2.93893480
101cochlea development (GO:0090102)2.92725664
102neuromuscular process controlling posture (GO:0050884)2.92124682
103regulation of dendritic spine development (GO:0060998)2.90776950
104central nervous system projection neuron axonogenesis (GO:0021952)2.90726393
105cell communication by electrical coupling (GO:0010644)2.90487927
106neuronal action potential (GO:0019228)2.87766240
107regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.87507562
108regulation of vesicle fusion (GO:0031338)2.86634959
109phosphorelay signal transduction system (GO:0000160)2.86282563
110regulation of cell communication by electrical coupling (GO:0010649)2.86249076
111cilium or flagellum-dependent cell motility (GO:0001539)2.86052042
112long-chain fatty acid biosynthetic process (GO:0042759)2.85938803
113regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.84910090
114synaptic transmission (GO:0007268)2.83422859
115negative regulation of synaptic transmission (GO:0050805)2.83211771
116positive regulation of potassium ion transmembrane transport (GO:1901381)2.82151191
117regulation of synaptic transmission (GO:0050804)2.81471928
118amino acid import (GO:0043090)2.79875104
119regulation of respiratory system process (GO:0044065)2.79720294
120layer formation in cerebral cortex (GO:0021819)2.79567368
121synaptic vesicle endocytosis (GO:0048488)2.78750663
122dendrite development (GO:0016358)2.77644249
123righting reflex (GO:0060013)2.77422186
124synapse organization (GO:0050808)2.76465212
125regulation of synaptic transmission, GABAergic (GO:0032228)2.75878412
126astrocyte development (GO:0014002)2.74306673
127regulation of neurotransmitter secretion (GO:0046928)2.74089535
128acidic amino acid transport (GO:0015800)2.72148811
129neuromuscular process (GO:0050905)2.69815051
130positive regulation of potassium ion transport (GO:0043268)2.69462207
131regulation of cardiac muscle cell contraction (GO:0086004)2.69185104

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.63620714
2GBX2_23144817_ChIP-Seq_PC3_Human4.59947811
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93050032
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.91430249
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.87599460
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.50713072
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.43818913
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.43818913
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.41836532
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.39926061
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.37212912
12* EZH2_27304074_Chip-Seq_ESCs_Mouse2.36606347
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.36606104
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.32427464
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.25628287
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.17703598
17REST_21632747_ChIP-Seq_MESCs_Mouse2.16361158
18TAF15_26573619_Chip-Seq_HEK293_Human2.14795631
19* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.11951975
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.10092158
21DROSHA_22980978_ChIP-Seq_HELA_Human2.08178284
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.02471294
23AR_21572438_ChIP-Seq_LNCaP_Human2.02356026
24* ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98045181
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.97889538
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.96838775
27SUZ12_27294783_Chip-Seq_ESCs_Mouse1.94906371
28EZH2_27294783_Chip-Seq_ESCs_Mouse1.94535844
29TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.93402690
30* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90806834
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86543969
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.84819056
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.80509090
34P300_19829295_ChIP-Seq_ESCs_Human1.75870801
35* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72559948
36IKZF1_21737484_ChIP-ChIP_HCT116_Human1.64876226
37* REST_18959480_ChIP-ChIP_MESCs_Mouse1.63209179
38* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.58896696
39* CBX2_27304074_Chip-Seq_ESCs_Mouse1.58884111
40* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58657411
41PIAS1_25552417_ChIP-Seq_VCAP_Human1.58570002
42CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.57908337
43* SMAD3_21741376_ChIP-Seq_EPCs_Human1.56478410
44* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52707733
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49213835
46* STAT3_23295773_ChIP-Seq_U87_Human1.45594797
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.45303738
48* FUS_26573619_Chip-Seq_HEK293_Human1.45105590
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.44767755
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42506305
51NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.42317758
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38885383
53CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38583998
54* AR_25329375_ChIP-Seq_VCAP_Human1.37037892
55VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.35294362
56IGF1R_20145208_ChIP-Seq_DFB_Human1.32269782
57* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.31747661
58* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30361210
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.29585343
60VDR_22108803_ChIP-Seq_LS180_Human1.29517629
61* TCF4_23295773_ChIP-Seq_U87_Human1.27983189
62RNF2_27304074_Chip-Seq_NSC_Mouse1.27056677
63TP53_16413492_ChIP-PET_HCT116_Human1.26975509
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26116655
65LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24780425
66ZNF274_21170338_ChIP-Seq_K562_Hela1.24507514
67* ARNT_22903824_ChIP-Seq_MCF-7_Human1.23953817
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23660486
69CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22705284
70CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22211159
71ER_23166858_ChIP-Seq_MCF-7_Human1.22194631
72* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21133677
73* NANOG_18555785_Chip-Seq_ESCs_Mouse1.20128703
74UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17951805
75NR3C1_21868756_ChIP-Seq_MCF10A_Human1.17910990
76BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.16533295
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16278329
78TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16278329
79* AHR_22903824_ChIP-Seq_MCF-7_Human1.15573345
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.15100839
81* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.14510302
82* SOX9_26525672_Chip-Seq_HEART_Mouse1.14351337
83RBPJ_22232070_ChIP-Seq_NCS_Mouse1.14298819
84* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14094108
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13879327
86CBP_20019798_ChIP-Seq_JUKART_Human1.13879327
87* RUNX2_22187159_ChIP-Seq_PCA_Human1.12912652
88TAL1_26923725_Chip-Seq_HPCs_Mouse1.12214682
89CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.11991818
90EP300_21415370_ChIP-Seq_HL-1_Mouse1.11213342
91ERG_21242973_ChIP-ChIP_JURKAT_Human1.11084774
92* AR_19668381_ChIP-Seq_PC3_Human1.10619628
93PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09001842
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08877781
95* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08412847
96NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08059286
97NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08059286
98* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.07853031
99* RING1B_27294783_Chip-Seq_ESCs_Mouse1.07577506
100TP53_18474530_ChIP-ChIP_U2OS_Human1.07058890
101CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06670719
102BCAT_22108803_ChIP-Seq_LS180_Human1.05811679
103* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05283252
104YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05102351
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02979977
106* E2F1_18555785_Chip-Seq_ESCs_Mouse1.02569256
107MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01836244
108JUN_21703547_ChIP-Seq_K562_Human1.01511102
109* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.00900256
110* CMYC_18555785_Chip-Seq_ESCs_Mouse1.00826584
111PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00653493
112FLI1_27457419_Chip-Seq_LIVER_Mouse1.00063992
113* EWS_26573619_Chip-Seq_HEK293_Human0.99912369
114* P53_22387025_ChIP-Seq_ESCs_Mouse0.99411830
115WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98879079
116P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98808264

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.60699018
2MP0003880_abnormal_central_pattern5.55051695
3MP0003635_abnormal_synaptic_transmissio3.79762947
4MP0009745_abnormal_behavioral_response3.42956619
5MP0004270_analgesia3.33670767
6MP0002064_seizures3.14352877
7MP0002063_abnormal_learning/memory/cond3.05790852
8MP0009046_muscle_twitch2.98697406
9MP0002822_catalepsy2.92878253
10MP0001968_abnormal_touch/_nociception2.91745758
11MP0002572_abnormal_emotion/affect_behav2.84518627
12MP0002272_abnormal_nervous_system2.81309214
13MP0001486_abnormal_startle_reflex2.75863423
14MP0005423_abnormal_somatic_nervous2.60600791
15MP0001501_abnormal_sleep_pattern2.55687017
16MP0002736_abnormal_nociception_after2.53623873
17MP0002735_abnormal_chemical_nociception2.42893506
18MP0002734_abnormal_mechanical_nocicepti2.26998811
19MP0001440_abnormal_grooming_behavior2.17478459
20MP0002067_abnormal_sensory_capabilities2.10384005
21MP0001529_abnormal_vocalization2.05894366
22MP0000566_synostosis2.01230854
23MP0005646_abnormal_pituitary_gland1.99422860
24MP0000778_abnormal_nervous_system1.98755532
25MP0006276_abnormal_autonomic_nervous1.88191433
26MP0001905_abnormal_dopamine_level1.83930751
27MP0002733_abnormal_thermal_nociception1.82575206
28MP0001970_abnormal_pain_threshold1.82203092
29MP0004142_abnormal_muscle_tone1.71797091
30MP0003787_abnormal_imprinting1.71528929
31MP0002184_abnormal_innervation1.66103547
32MP0002557_abnormal_social/conspecific_i1.65532014
33MP0005386_behavior/neurological_phenoty1.64966615
34MP0004924_abnormal_behavior1.64966615
35MP0003329_amyloid_beta_deposits1.64900744
36MP0008569_lethality_at_weaning1.63237612
37MP0001188_hyperpigmentation1.62004909
38MP0005171_absent_coat_pigmentation1.60831621
39MP0000920_abnormal_myelination1.60291946
40MP0000955_abnormal_spinal_cord1.44733147
41MP0004742_abnormal_vestibular_system1.44233522
42MP0002882_abnormal_neuron_morphology1.42026883
43MP0005645_abnormal_hypothalamus_physiol1.42019737
44MP0004885_abnormal_endolymph1.41706739
45MP0001502_abnormal_circadian_rhythm1.40847021
46MP0002066_abnormal_motor_capabilities/c1.39842753
47MP0003136_yellow_coat_color1.38928485
48MP0005409_darkened_coat_color1.36145692
49MP0001984_abnormal_olfaction1.35348009
50MP0003879_abnormal_hair_cell1.31835196
51MP0003690_abnormal_glial_cell1.26239469
52MP0004811_abnormal_neuron_physiology1.25174146
53MP0003633_abnormal_nervous_system1.24170067
54MP0009780_abnormal_chondrocyte_physiolo1.23750967
55MP0003631_nervous_system_phenotype1.19668449
56MP0003122_maternal_imprinting1.16681437
57MP0004858_abnormal_nervous_system1.16676697
58MP0000579_abnormal_nail_morphology1.15355668
59MP0005551_abnormal_eye_electrophysiolog1.13201690
60MP0001485_abnormal_pinna_reflex1.13035218
61MP0002229_neurodegeneration1.11689797
62MP0003632_abnormal_nervous_system1.10220907
63MP0002152_abnormal_brain_morphology1.05600816
64MP0001963_abnormal_hearing_physiology1.03447698
65MP0003634_abnormal_glial_cell0.99476636
66MP0002909_abnormal_adrenal_gland0.96437263
67MP0002234_abnormal_pharynx_morphology0.96350402
68MP0001177_atelectasis0.95773558
69MP0004145_abnormal_muscle_electrophysio0.94895723
70MP0002752_abnormal_somatic_nervous0.91354608
71MP0002876_abnormal_thyroid_physiology0.91155892
72MP0005187_abnormal_penis_morphology0.87988396
73MP0004130_abnormal_muscle_cell0.85230107
74MP0000631_abnormal_neuroendocrine_gland0.84743741
75MP0002102_abnormal_ear_morphology0.83312470
76MP0004085_abnormal_heartbeat0.82917908
77MP0000749_muscle_degeneration0.81341324
78MP0005623_abnormal_meninges_morphology0.79315308
79MP0002069_abnormal_eating/drinking_beha0.78560957
80MP0000026_abnormal_inner_ear0.77769781
81MP0001299_abnormal_eye_distance/0.73588862
82MP0008874_decreased_physiological_sensi0.72318420
83MP0003137_abnormal_impulse_conducting0.71861232
84MP0005410_abnormal_fertilization0.69560580
85MP0001986_abnormal_taste_sensitivity0.69366596
86MP0008872_abnormal_physiological_respon0.68413173
87MP0000751_myopathy0.67804883
88MP0000427_abnormal_hair_cycle0.67586671
89MP0001346_abnormal_lacrimal_gland0.66274204
90MP0004147_increased_porphyrin_level0.66059077
91MP0000383_abnormal_hair_follicle0.65682961
92MP0006292_abnormal_olfactory_placode0.65033699
93MP0003121_genomic_imprinting0.64785478
94MP0004043_abnormal_pH_regulation0.64340138
95MP0002653_abnormal_ependyma_morphology0.64278270
96MP0004215_abnormal_myocardial_fiber0.64090155
97MP0005167_abnormal_blood-brain_barrier0.63058697
98MP0002751_abnormal_autonomic_nervous0.63052045
99MP0000604_amyloidosis0.62272023
100MP0008877_abnormal_DNA_methylation0.61776430
101* MP0010769_abnormal_survival0.61741891
102MP0001664_abnormal_digestion0.61117562
103MP0010386_abnormal_urinary_bladder0.60733713
104MP0005248_abnormal_Harderian_gland0.58713491
105* MP0010768_mortality/aging0.57838029
106MP0003938_abnormal_ear_development0.57803118
107MP0000534_abnormal_ureter_morphology0.57330569
108MP0005535_abnormal_body_temperature0.56549063
109MP0004133_heterotaxia0.56265319
110MP0005253_abnormal_eye_physiology0.56117319
111MP0003861_abnormal_nervous_system0.55809258
112MP0002638_abnormal_pupillary_reflex0.55055357
113MP0001943_abnormal_respiration0.54285807
114MP0004484_altered_response_of0.53462338
115MP0006072_abnormal_retinal_apoptosis0.53372069
116MP0003950_abnormal_plasma_membrane0.53013141
117MP0000569_abnormal_digit_pigmentation0.50894188
118* MP0010770_preweaning_lethality0.49936855
119* MP0002082_postnatal_lethality0.49936855
120MP0003123_paternal_imprinting0.49788060

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.47134142
2Myokymia (HP:0002411)5.60789569
3Focal seizures (HP:0007359)5.60685735
4Epileptic encephalopathy (HP:0200134)4.88518612
5Febrile seizures (HP:0002373)4.39499862
6Atonic seizures (HP:0010819)4.38295850
7Hyperventilation (HP:0002883)4.10251514
8Broad-based gait (HP:0002136)3.96647924
9Dialeptic seizures (HP:0011146)3.95783424
10Progressive cerebellar ataxia (HP:0002073)3.84571617
11Absence seizures (HP:0002121)3.71404501
12Generalized tonic-clonic seizures (HP:0002069)3.55114538
13Dysmetria (HP:0001310)3.45317563
14Gaze-evoked nystagmus (HP:0000640)3.39497485
15Neurofibrillary tangles (HP:0002185)3.33202855
16Visual hallucinations (HP:0002367)3.21603750
17Supranuclear gaze palsy (HP:0000605)3.15461624
18Scanning speech (HP:0002168)3.09581242
19Dysdiadochokinesis (HP:0002075)3.09146004
20Excessive salivation (HP:0003781)3.05963591
21Drooling (HP:0002307)3.05963591
22Action tremor (HP:0002345)3.05874550
23Degeneration of the lateral corticospinal tracts (HP:0002314)3.00784077
24Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.00784077
25Abnormality of the corticospinal tract (HP:0002492)2.98988198
26Truncal ataxia (HP:0002078)2.95472807
27Spastic gait (HP:0002064)2.84021668
28Hemiparesis (HP:0001269)2.82512120
29Cerebral inclusion bodies (HP:0100314)2.77807381
30Blue irides (HP:0000635)2.72863167
31Protruding tongue (HP:0010808)2.67889869
32Clumsiness (HP:0002312)2.64615129
33Absent speech (HP:0001344)2.64393241
34Impaired vibration sensation in the lower limbs (HP:0002166)2.64026328
35Ankle clonus (HP:0011448)2.53556480
36Thickened helices (HP:0000391)2.52445783
37Amblyopia (HP:0000646)2.48874716
38Epileptiform EEG discharges (HP:0011182)2.44379345
39Megalencephaly (HP:0001355)2.42387639
40Fair hair (HP:0002286)2.39975195
41Intention tremor (HP:0002080)2.39676389
42Progressive inability to walk (HP:0002505)2.39659492
43Abnormality of binocular vision (HP:0011514)2.39267513
44Diplopia (HP:0000651)2.39267513
45Postural instability (HP:0002172)2.37406485
46Alacrima (HP:0000522)2.37163294
47Urinary bladder sphincter dysfunction (HP:0002839)2.36596102
48Termporal pattern (HP:0011008)2.33693144
49Insidious onset (HP:0003587)2.33693144
50Increased circulating renin level (HP:0000848)2.32015006
51Aplasia involving bones of the extremities (HP:0009825)2.31516405
52Aplasia involving bones of the upper limbs (HP:0009823)2.31516405
53Aplasia of the phalanges of the hand (HP:0009802)2.31516405
54Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.30195183
55Anxiety (HP:0000739)2.27734678
56Retinal dysplasia (HP:0007973)2.27498323
57Abnormal eating behavior (HP:0100738)2.27430973
58Poor eye contact (HP:0000817)2.26389212
59Split foot (HP:0001839)2.23961299
60Decreased lacrimation (HP:0000633)2.22357407
61Urinary urgency (HP:0000012)2.19807690
62Widely spaced teeth (HP:0000687)2.17854637
63Papillary thyroid carcinoma (HP:0002895)2.17669153
64Peripheral hypomyelination (HP:0007182)2.17558906
65Abnormality of salivation (HP:0100755)2.16851029
66Gait imbalance (HP:0002141)2.15837556
67EEG with generalized epileptiform discharges (HP:0011198)2.14488693
68Dysmetric saccades (HP:0000641)2.14164729
69Cutaneous finger syndactyly (HP:0010554)2.13867044
70Generalized hypopigmentation of hair (HP:0011358)2.09098773
71Bell-shaped thorax (HP:0001591)2.07927540
72Sensory axonal neuropathy (HP:0003390)2.05016356
73Difficulty running (HP:0009046)2.04716309
74Genital tract atresia (HP:0001827)2.04433002
75Impaired social interactions (HP:0000735)2.04121051
76Abnormal social behavior (HP:0012433)2.04121051
77Generalized myoclonic seizures (HP:0002123)2.03066134
78Depression (HP:0000716)2.01695224
79Lower limb muscle weakness (HP:0007340)2.00889786
80Fetal akinesia sequence (HP:0001989)2.00353401
81Onion bulb formation (HP:0003383)1.99734625
82Vaginal atresia (HP:0000148)1.99355974
83Dynein arm defect of respiratory motile cilia (HP:0012255)1.99279810
84Absent/shortened dynein arms (HP:0200106)1.99279810
85Abnormality of the ischium (HP:0003174)1.97651829
86Impaired smooth pursuit (HP:0007772)1.97048390
87Pheochromocytoma (HP:0002666)1.96409923
88Hypsarrhythmia (HP:0002521)1.94934806
89Hemiplegia (HP:0002301)1.94667762
90Gait ataxia (HP:0002066)1.93529011
91Morphological abnormality of the pyramidal tract (HP:0002062)1.93305928
92Inability to walk (HP:0002540)1.93197310
93Gastroesophageal reflux (HP:0002020)1.93004702
94Stereotypic behavior (HP:0000733)1.90533387
95Medial flaring of the eyebrow (HP:0010747)1.90300587
96Genetic anticipation (HP:0003743)1.90019263
97Turricephaly (HP:0000262)1.89603299
98Congenital primary aphakia (HP:0007707)1.89226171
99Intellectual disability, moderate (HP:0002342)1.88170089
100Abnormality of the labia minora (HP:0012880)1.85864759
101Abnormality of ocular smooth pursuit (HP:0000617)1.85493326
102Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.85441355
103Incomplete penetrance (HP:0003829)1.84828054
104Neuroendocrine neoplasm (HP:0100634)1.84207257
105Torticollis (HP:0000473)1.84161960
106Mutism (HP:0002300)1.83682042
107Abnormal hair whorl (HP:0010721)1.80832629
108Specific learning disability (HP:0001328)1.79238472
109Esotropia (HP:0000565)1.78895315
110Polyphagia (HP:0002591)1.78708612
111Bradykinesia (HP:0002067)1.77055261
112Limb dystonia (HP:0002451)1.76819398
113Pancreatic fibrosis (HP:0100732)1.76322501
114Abnormal ciliary motility (HP:0012262)1.76158302
115Impaired vibratory sensation (HP:0002495)1.75435484
116True hermaphroditism (HP:0010459)1.75300023
117Nephrogenic diabetes insipidus (HP:0009806)1.75285285
118Akinesia (HP:0002304)1.74851996
119Short chin (HP:0000331)1.74435962
120Oligodactyly (hands) (HP:0001180)1.74401724
121Cutaneous syndactyly (HP:0012725)1.73448146
122Status epilepticus (HP:0002133)1.73446095
123Volvulus (HP:0002580)1.73075054
124Paraplegia (HP:0010550)1.69291780
125Spastic paraplegia (HP:0001258)1.67959511
126Inappropriate behavior (HP:0000719)1.63847240
127Hypoplasia of the corpus callosum (HP:0002079)1.63677169
128Optic nerve hypoplasia (HP:0000609)1.61547291
129Tented upper lip vermilion (HP:0010804)1.60932057

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.47158768
2EPHA44.59070695
3CASK3.80969375
4TNIK3.67365287
5MAP3K42.50200130
6MAP2K72.35458140
7NTRK22.24937986
8MAP3K92.16459191
9MARK12.01443440
10PRPF4B1.90991282
11MAPK131.89754943
12OXSR11.79988196
13FRK1.69460554
14MAP3K121.67704476
15PNCK1.67396848
16DAPK21.64256346
17OBSCN1.62279829
18STK391.62212074
19MINK11.59004535
20PAK61.58490858
21MAP2K41.55956328
22RIPK41.45118859
23CDK191.41977819
24CAMK2B1.41339934
25NTRK11.40271987
26CAMK2A1.36322411
27CDK51.31419497
28ERBB31.24472192
29KSR11.20916989
30SGK2231.20782759
31SGK4941.20782759
32FGR1.19090841
33MAP3K131.18747492
34FES1.17319098
35KSR21.17030988
36MUSK1.11657434
37PLK21.10118828
38CCNB11.01954091
39PRKCG1.01421720
40PRKD31.00720286
41DAPK11.00423719
42BCR1.00008732
43MARK20.97616366
44NEK60.97522380
45PKN10.97291482
46CSNK1G20.97193261
47ARAF0.94668986
48BMPR20.93715934
49UHMK10.92489570
50AKT30.90139408
51SIK20.89246721
52SGK20.88409199
53MAP4K20.87955053
54TYRO30.87919652
55GRK50.85753013
56PTK2B0.83607000
57PHKG10.82185454
58PHKG20.82185454
59CAMK2D0.81526936
60PIK3CA0.80440889
61MAPKAPK50.79932477
62SGK10.78518571
63CSNK1A1L0.78500904
64CAMK10.78126300
65WNK10.76673606
66CDK180.76555647
67STK110.76443618
68PAK30.75806206
69MAP3K60.74700409
70CAMKK20.73443263
71CAMK1G0.73377927
72CDK150.73351896
73BRD40.71287855
74MET0.71032591
75RET0.70327400
76CDK30.69985750
77CAMK2G0.69102669
78CAMK40.68807914
79MAPK120.66954706
80CDK140.66855983
81PRKCE0.65679876
82STK380.65468767
83CSNK1G10.65254279
84CDK11A0.61104481
85FGFR20.59835141
86CAMKK10.59834411
87DYRK1A0.58149568
88EPHA30.57904436
89WNK40.57789225
90CDC42BPA0.57763211
91SGK30.57053638
92SIK30.56118033
93ROCK20.55597088
94MKNK20.54802365
95NME10.54081940
96ADRBK20.53639327
97STK38L0.53078065
98PRKCZ0.52949202
99PRKACB0.52206013
100ROCK10.51423168
101BRAF0.51222556
102FER0.50779008
103INSRR0.49961652
104ERBB40.48198151
105CSNK1G30.48138759
106LATS20.47963370
107CSNK1D0.47809624
108PRKCH0.47276178
109RAF10.46310443
110RPS6KA30.45567269
111WNK30.45266171
112PRKG10.44964154
113DYRK20.44872360
114FYN0.44626306
115PDGFRB0.43268450
116PINK10.42316586
117TNK20.42197181
118PDPK10.42049341
119PRKCB0.41932575
120PRKCQ0.41874780
121PRKACA0.41105425
122DDR20.40225305
123CSNK1A10.39743634
124GRK70.39352789
125MAPK70.39063787
126MAPK100.37870589
127GSK3B0.37191463
128RPS6KB10.36328666
129PRKCA0.33598101
130CSNK1E0.33571215

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.57765709
2Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.02971500
3Glutamatergic synapse_Homo sapiens_hsa047242.94890453
4Circadian entrainment_Homo sapiens_hsa047132.90573286
5GABAergic synapse_Homo sapiens_hsa047272.86902941
6Morphine addiction_Homo sapiens_hsa050322.71311107
7Synaptic vesicle cycle_Homo sapiens_hsa047212.59910898
8Long-term potentiation_Homo sapiens_hsa047202.57220484
9Amphetamine addiction_Homo sapiens_hsa050312.56087737
10Olfactory transduction_Homo sapiens_hsa047402.31578786
11Salivary secretion_Homo sapiens_hsa049702.18550400
12Dopaminergic synapse_Homo sapiens_hsa047282.11788955
13Serotonergic synapse_Homo sapiens_hsa047262.11622484
14Taste transduction_Homo sapiens_hsa047422.08673208
15Insulin secretion_Homo sapiens_hsa049111.88911917
16Long-term depression_Homo sapiens_hsa047301.88302012
17Cocaine addiction_Homo sapiens_hsa050301.86390719
18Calcium signaling pathway_Homo sapiens_hsa040201.81944007
19Cholinergic synapse_Homo sapiens_hsa047251.70902933
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.69683327
21Gastric acid secretion_Homo sapiens_hsa049711.66769346
22Renin secretion_Homo sapiens_hsa049241.66338091
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.59770493
24Collecting duct acid secretion_Homo sapiens_hsa049661.57714073
25Oxytocin signaling pathway_Homo sapiens_hsa049211.49439122
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.47225072
27Axon guidance_Homo sapiens_hsa043601.42850884
28cAMP signaling pathway_Homo sapiens_hsa040241.38285233
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.33267738
30GnRH signaling pathway_Homo sapiens_hsa049121.31905963
31Gap junction_Homo sapiens_hsa045401.22864098
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21849309
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11252810
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10290351
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06346527
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.05507156
37Vascular smooth muscle contraction_Homo sapiens_hsa042701.05030036
38ErbB signaling pathway_Homo sapiens_hsa040121.00517060
39Dorso-ventral axis formation_Homo sapiens_hsa043200.97685874
40Cardiac muscle contraction_Homo sapiens_hsa042600.95943097
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.95751791
42Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.95317657
43Vibrio cholerae infection_Homo sapiens_hsa051100.92550995
44Phospholipase D signaling pathway_Homo sapiens_hsa040720.92203921
45Pancreatic secretion_Homo sapiens_hsa049720.91886704
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91161967
47Type II diabetes mellitus_Homo sapiens_hsa049300.90108754
48Phototransduction_Homo sapiens_hsa047440.89664014
49Ether lipid metabolism_Homo sapiens_hsa005650.89459167
50ABC transporters_Homo sapiens_hsa020100.89325624
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89072446
52Melanogenesis_Homo sapiens_hsa049160.88970784
53Estrogen signaling pathway_Homo sapiens_hsa049150.87789566
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.87106189
55Histidine metabolism_Homo sapiens_hsa003400.86310246
56Choline metabolism in cancer_Homo sapiens_hsa052310.81593981
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.78580257
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76546894
59Dilated cardiomyopathy_Homo sapiens_hsa054140.75884260
60Glioma_Homo sapiens_hsa052140.75519930
61beta-Alanine metabolism_Homo sapiens_hsa004100.74671067
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72957935
63Ovarian steroidogenesis_Homo sapiens_hsa049130.69979065
64Ras signaling pathway_Homo sapiens_hsa040140.69047466
65MAPK signaling pathway_Homo sapiens_hsa040100.68776188
66Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65548580
67Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65167785
68Circadian rhythm_Homo sapiens_hsa047100.64910217
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63665630
70Tight junction_Homo sapiens_hsa045300.63618911
71Alzheimers disease_Homo sapiens_hsa050100.63217112
72Thyroid hormone synthesis_Homo sapiens_hsa049180.60479457
73Oxidative phosphorylation_Homo sapiens_hsa001900.59018856
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58865113
75Hippo signaling pathway_Homo sapiens_hsa043900.56206668
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.55779597
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54845731
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54543737
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54522338
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.54384885
81Oocyte meiosis_Homo sapiens_hsa041140.54314222
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53239624
83Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.52356744
84Propanoate metabolism_Homo sapiens_hsa006400.51118185
85Inositol phosphate metabolism_Homo sapiens_hsa005620.50392571
86Fatty acid elongation_Homo sapiens_hsa000620.49975971
87Sphingolipid metabolism_Homo sapiens_hsa006000.49935345
88Rap1 signaling pathway_Homo sapiens_hsa040150.49758449
89Glycerolipid metabolism_Homo sapiens_hsa005610.47293006
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47232079
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.45991728
92Hedgehog signaling pathway_Homo sapiens_hsa043400.45879461
93Endometrial cancer_Homo sapiens_hsa052130.44043070
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.43633691
95Alcoholism_Homo sapiens_hsa050340.42346548
96Wnt signaling pathway_Homo sapiens_hsa043100.42321412
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41217247
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.39132098
99Rheumatoid arthritis_Homo sapiens_hsa053230.38912958
100Bile secretion_Homo sapiens_hsa049760.38774818
101Nitrogen metabolism_Homo sapiens_hsa009100.37555130
102Steroid biosynthesis_Homo sapiens_hsa001000.37199061
103African trypanosomiasis_Homo sapiens_hsa051430.36308778
104Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33640815
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33273036
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31812226
107Type I diabetes mellitus_Homo sapiens_hsa049400.31344496
108Primary bile acid biosynthesis_Homo sapiens_hsa001200.31241588
109Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30935509
110Fatty acid biosynthesis_Homo sapiens_hsa000610.28147631
111Renal cell carcinoma_Homo sapiens_hsa052110.27901830
112Prion diseases_Homo sapiens_hsa050200.27606127
113AMPK signaling pathway_Homo sapiens_hsa041520.27293227
114Basal cell carcinoma_Homo sapiens_hsa052170.26650156
115Glucagon signaling pathway_Homo sapiens_hsa049220.25473046
116Mineral absorption_Homo sapiens_hsa049780.24412718
117VEGF signaling pathway_Homo sapiens_hsa043700.24295479
118Butanoate metabolism_Homo sapiens_hsa006500.24131558

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