L1CAM

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 an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.06243461
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.01304304
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.60549612
4locomotory exploration behavior (GO:0035641)5.52874240
5vocalization behavior (GO:0071625)5.46794843
6layer formation in cerebral cortex (GO:0021819)5.38869515
7neuron cell-cell adhesion (GO:0007158)5.17788052
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.10813196
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.08147157
10synaptic vesicle exocytosis (GO:0016079)4.96461492
11protein localization to synapse (GO:0035418)4.95679981
12glutamate secretion (GO:0014047)4.94188608
13regulation of synaptic vesicle exocytosis (GO:2000300)4.81181554
14exploration behavior (GO:0035640)4.73450126
15pyrimidine nucleobase catabolic process (GO:0006208)4.71373130
16proline transport (GO:0015824)4.70222080
17regulation of glutamate receptor signaling pathway (GO:1900449)4.67563512
18cell migration in hindbrain (GO:0021535)4.40779302
19synaptic vesicle docking involved in exocytosis (GO:0016081)4.37825000
20regulation of synapse structural plasticity (GO:0051823)4.35687351
21neurotransmitter secretion (GO:0007269)4.28757991
22ionotropic glutamate receptor signaling pathway (GO:0035235)4.19806183
23dendritic spine morphogenesis (GO:0060997)4.19717350
24regulation of synaptic vesicle transport (GO:1902803)4.18726358
25dendrite morphogenesis (GO:0048813)4.07025301
26postsynaptic membrane organization (GO:0001941)4.03200650
27gamma-aminobutyric acid transport (GO:0015812)3.99978441
28nucleobase catabolic process (GO:0046113)3.98752522
29regulation of long-term neuronal synaptic plasticity (GO:0048169)3.97048569
30neuron recognition (GO:0008038)3.96749965
31regulation of neuronal synaptic plasticity (GO:0048168)3.95774727
32neuronal ion channel clustering (GO:0045161)3.87805142
33regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.80441766
34neurotransmitter-gated ion channel clustering (GO:0072578)3.78810029
35axonal fasciculation (GO:0007413)3.77954762
36cerebellar granule cell differentiation (GO:0021707)3.76940271
37glutamate receptor signaling pathway (GO:0007215)3.69253468
38positive regulation of synapse maturation (GO:0090129)3.68660715
39activation of protein kinase A activity (GO:0034199)3.68266526
40synaptic transmission, glutamatergic (GO:0035249)3.66715626
41negative regulation of microtubule polymerization (GO:0031115)3.57033069
42positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.55586313
43positive regulation of synaptic transmission, GABAergic (GO:0032230)3.54998833
44cytoskeletal anchoring at plasma membrane (GO:0007016)3.53173434
45positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.51885368
46neuronal action potential propagation (GO:0019227)3.49272234
47mitochondrion transport along microtubule (GO:0047497)3.48480513
48establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.48480513
49cellular potassium ion homeostasis (GO:0030007)3.46610626
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.44036208
51central nervous system projection neuron axonogenesis (GO:0021952)3.43700602
52auditory behavior (GO:0031223)3.43112229
53axon cargo transport (GO:0008088)3.43095464
54sodium ion export (GO:0071436)3.41760638
55neurotransmitter transport (GO:0006836)3.41587004
56neuron-neuron synaptic transmission (GO:0007270)3.40299307
57positive regulation of membrane potential (GO:0045838)3.39541110
58neuromuscular process controlling balance (GO:0050885)3.38307022
59organelle transport along microtubule (GO:0072384)3.36851601
60clathrin coat assembly (GO:0048268)3.36457744
61long-term memory (GO:0007616)3.34541831
62synapse assembly (GO:0007416)3.32594504
63establishment of mitochondrion localization (GO:0051654)3.31564950
64regulation of synapse maturation (GO:0090128)3.29151386
65mating behavior (GO:0007617)3.27773891
66response to auditory stimulus (GO:0010996)3.27702595
67regulation of excitatory postsynaptic membrane potential (GO:0060079)3.27265366
68vesicle transport along microtubule (GO:0047496)3.23554350
69cerebellar Purkinje cell differentiation (GO:0021702)3.23503940
70regulation of neurotransmitter secretion (GO:0046928)3.21737583
71regulation of dendritic spine morphogenesis (GO:0061001)3.20343660
72transmission of nerve impulse (GO:0019226)3.20331173
73regulation of vesicle fusion (GO:0031338)3.19673624
74membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.18821316
75response to pheromone (GO:0019236)3.18045477
76neuromuscular synaptic transmission (GO:0007274)3.17659278
77regulation of postsynaptic membrane potential (GO:0060078)3.17603158
78dopamine receptor signaling pathway (GO:0007212)3.17572868
79synaptic vesicle endocytosis (GO:0048488)3.17379214
80regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.17020751
81membrane depolarization during action potential (GO:0086010)3.15546018
82axon extension (GO:0048675)3.15487209
83negative regulation of synaptic transmission, GABAergic (GO:0032229)3.14451262
84regulation of neurotransmitter levels (GO:0001505)3.13909544
85positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.13842350
86cell communication by electrical coupling (GO:0010644)3.13180535
87innervation (GO:0060384)3.13058534
88cerebellar Purkinje cell layer development (GO:0021680)3.11616257
89glycine transport (GO:0015816)3.06477455
90regulation of synaptic transmission, glutamatergic (GO:0051966)3.03764698
91cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.03308890
92regulation of synaptic plasticity (GO:0048167)3.03212973
93positive regulation of synapse assembly (GO:0051965)3.03200688
94dendritic spine organization (GO:0097061)3.02799008
95prepulse inhibition (GO:0060134)3.02586284
96presynaptic membrane assembly (GO:0097105)3.02052976
97potassium ion homeostasis (GO:0055075)3.01898894
98presynaptic membrane organization (GO:0097090)3.01812926
99social behavior (GO:0035176)3.00473020
100intraspecies interaction between organisms (GO:0051703)3.00473020
101adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.99748362
102regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.98725553
103regulation of cAMP-dependent protein kinase activity (GO:2000479)2.97219762
104positive regulation of neurotransmitter transport (GO:0051590)2.94560510
105positive regulation of axon extension (GO:0045773)2.94264463
106positive regulation of dendritic spine development (GO:0060999)2.93366369
107G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.91394520
108regulation of neurotransmitter transport (GO:0051588)2.90891290
109membrane depolarization (GO:0051899)2.90348676
110synapse organization (GO:0050808)2.89516029
111regulation of ARF protein signal transduction (GO:0032012)2.88313663
112positive regulation of dendritic spine morphogenesis (GO:0061003)2.87840847
113learning (GO:0007612)2.87522443
114neuron projection extension (GO:1990138)2.87312835
115amino acid import (GO:0043090)2.85078358
116protein retention in ER lumen (GO:0006621)2.74933292
117cellular sodium ion homeostasis (GO:0006883)2.73149658
118neuromuscular process (GO:0050905)2.72726075
119regulation of voltage-gated calcium channel activity (GO:1901385)2.66326441
120negative regulation of dendrite morphogenesis (GO:0050774)2.65027199
121membrane assembly (GO:0071709)2.64172135
122cell communication involved in cardiac conduction (GO:0086065)2.62911990

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.76790255
2GBX2_23144817_ChIP-Seq_PC3_Human3.18745298
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06553482
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02543817
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.87969637
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.73025945
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67636872
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67636872
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62109340
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.55655631
11TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.53268385
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.51505107
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.49406312
14DROSHA_22980978_ChIP-Seq_HELA_Human2.49263190
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47402776
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46106729
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43162439
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.38337169
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.33414311
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29311330
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.28322496
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.22953891
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.22911899
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.17853177
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.17477551
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.16881981
27EED_16625203_ChIP-ChIP_MESCs_Mouse2.12181246
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.09927403
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.08903213
30ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.05916209
31AR_21572438_ChIP-Seq_LNCaP_Human2.03948384
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.94044310
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.69641628
34TRIM28_21343339_ChIP-Seq_HEK293_Human1.68302076
35* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.64256101
36TP63_17297297_ChIP-ChIP_HaCaT_Human1.58874148
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.54865884
38ZNF274_21170338_ChIP-Seq_K562_Hela1.53188145
39SMAD4_21799915_ChIP-Seq_A2780_Human1.51405924
40EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.50155115
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48561515
42LXR_22292898_ChIP-Seq_THP-1_Human1.48382208
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47751998
44TP53_20018659_ChIP-ChIP_R1E_Mouse1.45743892
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43687190
46TAF15_26573619_Chip-Seq_HEK293_Human1.43346086
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.41458089
48RING1B_27294783_Chip-Seq_ESCs_Mouse1.39500671
49ESR2_21235772_ChIP-Seq_MCF-7_Human1.38331595
50KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35658723
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.34803937
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.33169380
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29591263
54* KDM2B_26808549_Chip-Seq_K562_Human1.29028061
55ZFP281_18757296_ChIP-ChIP_E14_Mouse1.28667095
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.28448530
57* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27384230
58ESR1_15608294_ChIP-ChIP_MCF-7_Human1.26665642
59PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.26537602
60IGF1R_20145208_ChIP-Seq_DFB_Human1.25723961
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.24418871
62PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24250862
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.23307508
64UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.22982670
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.20356295
66GATA1_26923725_Chip-Seq_HPCs_Mouse1.20201064
67AR_19668381_ChIP-Seq_PC3_Human1.19559007
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19166126
69AR_25329375_ChIP-Seq_VCAP_Human1.19114649
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18788654
71DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.18248846
72P300_19829295_ChIP-Seq_ESCs_Human1.17835310
73WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17007306
74ZNF263_19887448_ChIP-Seq_K562_Human1.16992346
75TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16458359
76* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16298014
77RARG_19884340_ChIP-ChIP_MEFs_Mouse1.16158434
78CBX2_27304074_Chip-Seq_ESCs_Mouse1.15771952
79TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.15633900
80SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14811509
81SMC4_20622854_ChIP-Seq_HELA_Human1.14592867
82AHR_22903824_ChIP-Seq_MCF-7_Human1.14551752
83STAT3_23295773_ChIP-Seq_U87_Human1.13779370
84TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13583044
85ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12779093
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.12755877
87EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.12182736
88ARNT_22903824_ChIP-Seq_MCF-7_Human1.10968793
89RNF2_27304074_Chip-Seq_NSC_Mouse1.10951849
90OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10882717
91P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09533417
92YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08709646
93SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07921812
94P300_27058665_Chip-Seq_ZR-75-30cells_Human1.05123662
95ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04034786
96TP53_23651856_ChIP-Seq_MEFs_Mouse1.03481129
97SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03393723
98TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02963145
99KDM2B_26808549_Chip-Seq_DND41_Human1.02259416
100SMAD4_21741376_ChIP-Seq_HESCs_Human1.02174491
101SMAD3_21741376_ChIP-Seq_ESCs_Human1.01387512
102AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.00234853
103RBPJ_22232070_ChIP-Seq_NCS_Mouse1.00206659
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99287808
105PIAS1_25552417_ChIP-Seq_VCAP_Human0.99234804
106KDM2B_26808549_Chip-Seq_JURKAT_Human0.98689183
107CREB1_26743006_Chip-Seq_LNCaP_Human0.98081047
108TCF4_23295773_ChIP-Seq_U87_Human0.96937556
109RACK7_27058665_Chip-Seq_MCF-7_Human0.96087024
110SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95758681
111MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94949980
112TET1_21451524_ChIP-Seq_MESCs_Mouse0.94461812
113* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93303310
114PRDM14_20953172_ChIP-Seq_ESCs_Human0.91979930
115TET1_21490601_ChIP-Seq_MESCs_Mouse0.91741456
116CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90765014
117MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.90177071
118ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90037611
119OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89812312
120GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89623579
121SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.89503365
122SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89347283
123TP53_22127205_ChIP-Seq_IMR90_Human0.89276599
124CTCF_27219007_Chip-Seq_Bcells_Human0.88874717
125TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88634465
126RUNX2_22187159_ChIP-Seq_PCA_Human0.88609890
127ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88532360
128TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88467564
129POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88467564
130CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87981985
131* RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.85903746
132JUN_21703547_ChIP-Seq_K562_Human0.85549141
133ISL1_27105846_Chip-Seq_CPCs_Mouse0.85297494
134CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.84563272
135NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83757264
136TP53_16413492_ChIP-PET_HCT116_Human0.83617640
137CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.83598367
138SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82490837
139SMAD3_21741376_ChIP-Seq_HESCs_Human0.82465886
140P68_20966046_ChIP-Seq_HELA_Human0.81969987
141CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.80854349
142RUNX1_26923725_Chip-Seq_HPCs_Mouse0.80840812
143KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.80714605
144NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.80666668
145CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80499744

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.18026412
2MP0004270_analgesia4.37298871
3MP0003880_abnormal_central_pattern4.05166375
4* MP0003635_abnormal_synaptic_transmissio4.00931162
5MP0001968_abnormal_touch/_nociception3.61998583
6MP0002735_abnormal_chemical_nociception3.22640984
7* MP0002063_abnormal_learning/memory/cond3.21554458
8MP0009745_abnormal_behavioral_response3.13734894
9* MP0002734_abnormal_mechanical_nocicepti3.04087026
10MP0009046_muscle_twitch2.85043468
11MP0002064_seizures2.81330167
12MP0002736_abnormal_nociception_after2.72420136
13MP0004858_abnormal_nervous_system2.71554715
14* MP0002733_abnormal_thermal_nociception2.60034279
15* MP0002572_abnormal_emotion/affect_behav2.59516524
16MP0001970_abnormal_pain_threshold2.43385416
17MP0006276_abnormal_autonomic_nervous2.41307092
18* MP0000778_abnormal_nervous_system2.30691872
19MP0002272_abnormal_nervous_system2.28674039
20MP0001486_abnormal_startle_reflex2.25757702
21* MP0002184_abnormal_innervation2.22389947
22MP0001440_abnormal_grooming_behavior2.21158026
23MP0002822_catalepsy2.15694452
24MP0009780_abnormal_chondrocyte_physiolo2.14733389
25MP0004811_abnormal_neuron_physiology2.11522948
26MP0003329_amyloid_beta_deposits2.09106670
27MP0002067_abnormal_sensory_capabilities2.00838869
28* MP0005423_abnormal_somatic_nervous2.00796546
29MP0001501_abnormal_sleep_pattern2.00506268
30MP0000569_abnormal_digit_pigmentation1.93372911
31MP0003123_paternal_imprinting1.91432707
32MP0004924_abnormal_behavior1.84574159
33MP0005386_behavior/neurological_phenoty1.84574159
34* MP0002557_abnormal_social/conspecific_i1.83008724
35* MP0000955_abnormal_spinal_cord1.79044501
36MP0002909_abnormal_adrenal_gland1.77845443
37MP0008569_lethality_at_weaning1.73317038
38MP0005645_abnormal_hypothalamus_physiol1.70767985
39MP0005257_abnormal_intraocular_pressure1.61124856
40* MP0002882_abnormal_neuron_morphology1.55596601
41MP0001984_abnormal_olfaction1.51483033
42MP0004885_abnormal_endolymph1.46045071
43* MP0002066_abnormal_motor_capabilities/c1.42221887
44MP0003879_abnormal_hair_cell1.40901897
45MP0002877_abnormal_melanocyte_morpholog1.35318559
46MP0003705_abnormal_hypodermis_morpholog1.34734547
47MP0003787_abnormal_imprinting1.34712242
48MP0003121_genomic_imprinting1.31627207
49MP0003122_maternal_imprinting1.26700477
50MP0003633_abnormal_nervous_system1.25920382
51MP0005171_absent_coat_pigmentation1.22185435
52MP0000537_abnormal_urethra_morphology1.21329290
53* MP0002152_abnormal_brain_morphology1.19993984
54MP0005646_abnormal_pituitary_gland1.15889659
55MP0001905_abnormal_dopamine_level1.10288928
56MP0001502_abnormal_circadian_rhythm1.09508638
57MP0004142_abnormal_muscle_tone1.08943397
58MP0003631_nervous_system_phenotype1.08633974
59* MP0000579_abnormal_nail_morphology1.06997372
60MP0001529_abnormal_vocalization1.02375925
61MP0010386_abnormal_urinary_bladder1.01866024
62MP0001188_hyperpigmentation1.00660581
63MP0000604_amyloidosis0.98028262
64MP0008961_abnormal_basal_metabolism0.97535236
65MP0003942_abnormal_urinary_system0.96624428
66MP0002229_neurodegeneration0.95680677
67MP0002069_abnormal_eating/drinking_beha0.93275280
68MP0000751_myopathy0.92715251
69MP0008438_abnormal_cutaneous_collagen0.91375290
70MP0004742_abnormal_vestibular_system0.90925935
71MP0008872_abnormal_physiological_respon0.89860185
72MP0002751_abnormal_autonomic_nervous0.88400827
73* MP0003634_abnormal_glial_cell0.87874297
74MP0002081_perinatal_lethality0.86319111
75* MP0002752_abnormal_somatic_nervous0.84671297
76MP0005394_taste/olfaction_phenotype0.84273370
77MP0005499_abnormal_olfactory_system0.84273370
78MP0003283_abnormal_digestive_organ0.83152981
79MP0000462_abnormal_digestive_system0.82816992
80MP0002089_abnormal_postnatal_growth/wei0.82377647
81MP0003385_abnormal_body_wall0.81757375
82MP0000631_abnormal_neuroendocrine_gland0.81291328
83MP0003632_abnormal_nervous_system0.80261460
84MP0008874_decreased_physiological_sensi0.79326986
85MP0005187_abnormal_penis_morphology0.79303064
86MP0004085_abnormal_heartbeat0.76911148
87MP0002638_abnormal_pupillary_reflex0.76665061
88* MP0003861_abnormal_nervous_system0.76465275
89MP0001177_atelectasis0.76442018
90MP0001849_ear_inflammation0.74746123
91MP0003172_abnormal_lysosome_physiology0.73268404
92MP0004145_abnormal_muscle_electrophysio0.69218506
93MP0002249_abnormal_larynx_morphology0.67945525
94MP0004510_myositis0.67876225
95MP0005535_abnormal_body_temperature0.67568955
96MP0001963_abnormal_hearing_physiology0.67175536
97MP0003303_peritoneal_inflammation0.66326904
98MP0000920_abnormal_myelination0.66252588
99MP0004233_abnormal_muscle_weight0.65149322
100MP0003137_abnormal_impulse_conducting0.64486026
101MP0001664_abnormal_digestion0.63908789
102* MP0001299_abnormal_eye_distance/0.63602368
103MP0001986_abnormal_taste_sensitivity0.62106724
104MP0000003_abnormal_adipose_tissue0.58270630
105MP0005623_abnormal_meninges_morphology0.58134622
106MP0005551_abnormal_eye_electrophysiolog0.57657285
107MP0001943_abnormal_respiration0.57072889
108* MP0010769_abnormal_survival0.56975278
109MP0003115_abnormal_respiratory_system0.56741866
110MP0003690_abnormal_glial_cell0.56257962
111MP0002090_abnormal_vision0.56105013
112* MP0010770_preweaning_lethality0.55915126
113* MP0002082_postnatal_lethality0.55915126
114MP0000534_abnormal_ureter_morphology0.55628900
115MP0005409_darkened_coat_color0.53369692
116MP0000049_abnormal_middle_ear0.53032180
117MP0004130_abnormal_muscle_cell0.52757216
118* MP0010768_mortality/aging0.52689785
119MP0002177_abnormal_outer_ear0.51398149
120MP0004484_altered_response_of0.50778364
121MP0003075_altered_response_to0.49770606

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.34422566
2Focal motor seizures (HP:0011153)5.47257519
3Focal seizures (HP:0007359)5.07886856
4Visual hallucinations (HP:0002367)4.81753077
5Supranuclear gaze palsy (HP:0000605)4.60429249
6Mutism (HP:0002300)4.54284246
7Epileptic encephalopathy (HP:0200134)4.12357780
8Ankle clonus (HP:0011448)4.08092260
9Action tremor (HP:0002345)4.04203862
10Progressive cerebellar ataxia (HP:0002073)4.01849716
11Papilledema (HP:0001085)3.87482424
12Amyotrophic lateral sclerosis (HP:0007354)3.44629636
13Limb dystonia (HP:0002451)3.43540870
14Febrile seizures (HP:0002373)3.43021824
15Atonic seizures (HP:0010819)3.40197894
16Broad-based gait (HP:0002136)3.38852680
17Insidious onset (HP:0003587)3.32109568
18Termporal pattern (HP:0011008)3.32109568
19Urinary bladder sphincter dysfunction (HP:0002839)3.31424643
20Absence seizures (HP:0002121)3.29256394
21Generalized tonic-clonic seizures (HP:0002069)3.24827496
22Poor eye contact (HP:0000817)3.23491376
23Hyperacusis (HP:0010780)3.20097637
24Neurofibrillary tangles (HP:0002185)3.11744407
25Drooling (HP:0002307)3.07290795
26Excessive salivation (HP:0003781)3.07290795
27Abnormal eating behavior (HP:0100738)3.07181292
28Polyphagia (HP:0002591)3.06341399
29Genetic anticipation (HP:0003743)3.03009323
30Akinesia (HP:0002304)3.02353345
31Urinary urgency (HP:0000012)2.98274120
32Cerebral inclusion bodies (HP:0100314)2.98146117
33Depression (HP:0000716)2.96437173
34Dialeptic seizures (HP:0011146)2.95217936
35Abnormal social behavior (HP:0012433)2.94763676
36Impaired social interactions (HP:0000735)2.94763676
37Impaired vibration sensation in the lower limbs (HP:0002166)2.88766288
38Progressive inability to walk (HP:0002505)2.85531080
39Torticollis (HP:0000473)2.85294564
40Abnormality of binocular vision (HP:0011514)2.78332132
41Diplopia (HP:0000651)2.78332132
42Pheochromocytoma (HP:0002666)2.78046737
43Inappropriate behavior (HP:0000719)2.76676350
44Amblyopia (HP:0000646)2.75589114
45Agitation (HP:0000713)2.75151689
46Spastic gait (HP:0002064)2.72404641
47Truncal ataxia (HP:0002078)2.71602843
48Upper limb amyotrophy (HP:0009129)2.65687786
49Distal upper limb amyotrophy (HP:0007149)2.65687786
50Hand muscle atrophy (HP:0009130)2.61945611
51Abnormality of the lower motor neuron (HP:0002366)2.58893437
52Postural instability (HP:0002172)2.58111432
53Hemiparesis (HP:0001269)2.53448511
54Anxiety (HP:0000739)2.52070336
55Apathy (HP:0000741)2.51499291
56Obstructive sleep apnea (HP:0002870)2.48344593
57Lower limb muscle weakness (HP:0007340)2.47347718
58Gaze-evoked nystagmus (HP:0000640)2.45753476
59Focal dystonia (HP:0004373)2.44697563
60Dysdiadochokinesis (HP:0002075)2.44525336
61Fetal akinesia sequence (HP:0001989)2.41606620
62Hyperventilation (HP:0002883)2.39783863
63Dysmetria (HP:0001310)2.39688384
64Aplasia/Hypoplasia of the brainstem (HP:0007362)2.38460444
65Hypoplasia of the brainstem (HP:0002365)2.38460444
66Insomnia (HP:0100785)2.37323866
67Megalencephaly (HP:0001355)2.37074021
68EEG with generalized epileptiform discharges (HP:0011198)2.34909523
69Neuroendocrine neoplasm (HP:0100634)2.33838325
70Epileptiform EEG discharges (HP:0011182)2.33786649
71Stereotypic behavior (HP:0000733)2.33269978
72Craniofacial dystonia (HP:0012179)2.31759837
73Ulnar claw (HP:0001178)2.30508902
74Hypsarrhythmia (HP:0002521)2.29199522
75Inability to walk (HP:0002540)2.25691000
76Failure to thrive in infancy (HP:0001531)2.25131162
77Bradykinesia (HP:0002067)2.24972631
78Diminished motivation (HP:0000745)2.23306838
79Premature rupture of membranes (HP:0001788)2.21953929
80Shallow orbits (HP:0000586)2.21405391
81Impaired smooth pursuit (HP:0007772)2.21093787
82Annular pancreas (HP:0001734)2.18463769
83Hypoventilation (HP:0002791)2.18033681
84Lower limb amyotrophy (HP:0007210)2.17138245
85Intention tremor (HP:0002080)2.12735709
86Neuronal loss in central nervous system (HP:0002529)2.11322306
87Atrophic scars (HP:0001075)2.07627074
88Absent speech (HP:0001344)2.06851649
89Abnormality of salivation (HP:0100755)2.05589744
90Clonus (HP:0002169)2.05506000
91Hemiplegia (HP:0002301)2.04577611
92Turricephaly (HP:0000262)2.04087480
93Pointed chin (HP:0000307)2.03572009
94Elfin facies (HP:0004428)2.00891576
95Pachygyria (HP:0001302)1.99614857
96Lissencephaly (HP:0001339)1.99122822
97Overriding aorta (HP:0002623)1.97374897
98Abnormality of ocular smooth pursuit (HP:0000617)1.95340224
99Sleep apnea (HP:0010535)1.94827488
100Ventricular fibrillation (HP:0001663)1.94695717
101Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.93811463
102Heterochromia iridis (HP:0001100)1.92548560
103Scanning speech (HP:0002168)1.91785057
104Renal duplication (HP:0000075)1.91469148
105Exotropia (HP:0000577)1.90079894
106Cerebral hypomyelination (HP:0006808)1.90052073
107Neoplasm of the peripheral nervous system (HP:0100007)1.89634939
108Hypercortisolism (HP:0001578)1.88161061
109Bowel diverticulosis (HP:0005222)1.87306909
110Long palpebral fissure (HP:0000637)1.86378308
111Broad face (HP:0000283)1.85707389
112Macroorchidism (HP:0000053)1.84110451
113Rapidly progressive (HP:0003678)1.82972709
114Disinhibition (HP:0000734)1.81210482
115Tetraplegia (HP:0002445)1.80516730
116Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.79797450
117Achilles tendon contracture (HP:0001771)1.79419751
118Hammertoe (HP:0001765)1.78928519
119Cerebral aneurysm (HP:0004944)1.78665759
120Impaired vibratory sensation (HP:0002495)1.78050035
121Abnormality of pain sensation (HP:0010832)1.73889448
122Impaired pain sensation (HP:0007328)1.73889448
123Bronchomalacia (HP:0002780)1.73017786
124Peripheral hypomyelination (HP:0007182)1.70578454
125Spastic tetraplegia (HP:0002510)1.69980848
126Heterotopia (HP:0002282)1.69301965
127Buphthalmos (HP:0000557)1.69201472
128Bladder diverticulum (HP:0000015)1.68005454
129Ulnar bowing (HP:0003031)1.67744817
130Generalized hypotonia (HP:0001290)1.65037491
131Open mouth (HP:0000194)1.62873964
132Protrusio acetabuli (HP:0003179)1.61839972
133Distal sensory impairment (HP:0002936)1.61476390
134Status epilepticus (HP:0002133)1.61208718
135Aplasia involving bones of the upper limbs (HP:0009823)1.59390745
136Aplasia of the phalanges of the hand (HP:0009802)1.59390745
137Aplasia involving bones of the extremities (HP:0009825)1.59390745

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK16.24658036
2MAP3K94.27985271
3NTRK33.69253717
4MINK13.12524641
5MAP3K42.84641609
6MAP2K72.39751759
7NTRK22.39571415
8EPHA42.30538268
9NTRK12.25780692
10PAK62.25761516
11DAPK22.18119170
12ICK2.09040154
13PHKG12.03044081
14PHKG22.03044081
15TRIB31.97887758
16LATS21.95395687
17MAPK131.92499106
18KSR21.87927519
19MAP2K41.74960853
20MAP3K121.72694282
21CAMKK11.66030965
22SIK21.65101925
23CASK1.60742028
24KSR11.54776871
25CDK51.53272726
26DYRK21.43693613
27MAP3K21.28171744
28TNIK1.27517678
29GRK51.27260652
30RET1.26162354
31TESK11.25220572
32PTK21.24999839
33PRKD31.22434050
34CSNK1G21.13767296
35RIPK41.12573293
36DAPK11.12482527
37PLK21.09741014
38TAOK11.07542207
39ERBB31.07276845
40TTN1.07203679
41LMTK21.06111507
42PNCK1.05805686
43BRSK11.04754622
44PRKCG1.04604433
45SIK11.04230775
46UHMK11.04100822
47MARK20.94875342
48PDGFRA0.93047568
49CDK140.91464838
50STK380.90890387
51CDK180.90715316
52ALK0.89262654
53LIMK10.88831273
54STK110.88770369
55CDK150.88606287
56PAK30.88455217
57CAMKK20.88296068
58TYRO30.87669677
59SCYL20.81886790
60CAMK2G0.81277177
61EEF2K0.78421009
62CDK11A0.77345032
63DYRK1A0.77052762
64CAMK2A0.76526204
65FES0.73177721
66SGK2230.71674262
67SGK4940.71674262
68PRKCZ0.70938871
69PRPF4B0.69251503
70PRKCH0.68143995
71BRAF0.67881662
72PKN10.66112422
73PKN20.65612338
74MTOR0.63915084
75NEK60.63166453
76MAP2K60.63150540
77CDK190.62912333
78CAMK10.62340851
79CDK120.61937266
80CSNK1G30.61809827
81PAK20.60686540
82CAMK1G0.60418026
83MST1R0.57312708
84RIPK10.57213596
85ROCK20.56173431
86FYN0.55846902
87SGK20.54063517
88SGK10.52994724
89SGK30.52744611
90WNK30.52419589
91CSNK1A1L0.51894200
92CAMK2D0.50117850
93CDC42BPA0.49189880
94MAPK120.48787564
95PRKCE0.48439995
96EPHB20.48396144
97MAP3K60.48280245
98MET0.46037292
99* RPS6KA20.44864701
100SMG10.42223657
101EPHA20.41929368
102CCNB10.40909297
103RPS6KA30.40793263
104CSNK1E0.40787417
105CAMK2B0.40423637
106AKT30.39305180
107DDR20.39230311
108ARAF0.39120079
109FER0.38125249
110PDK10.37927023
111CAMK1D0.37682822
112MAP2K10.36580840
113MAPK100.35089247
114DYRK1B0.34630239
115MAP3K10.34526225
116NEK10.34255145
117RAF10.33672123
118BCR0.32731336
119PDPK10.32646384
120MAPK80.32163687
121MAPK90.30662883
122ROCK10.30186585
123PRKCB0.29958389
124SIK30.28774816
125ERBB20.28700202
126FGFR20.28351440
127CSNK1G10.26729852
128ADRBK10.24213214

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.22996149
2Synaptic vesicle cycle_Homo sapiens_hsa047213.18486067
3Olfactory transduction_Homo sapiens_hsa047402.50771156
4Circadian entrainment_Homo sapiens_hsa047132.48977040
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45268581
6GABAergic synapse_Homo sapiens_hsa047272.45001054
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.35842378
8Glutamatergic synapse_Homo sapiens_hsa047242.32825383
9Long-term potentiation_Homo sapiens_hsa047202.27564252
10Morphine addiction_Homo sapiens_hsa050322.24543217
11Dopaminergic synapse_Homo sapiens_hsa047282.16309353
12Amphetamine addiction_Homo sapiens_hsa050312.00911719
13Cholinergic synapse_Homo sapiens_hsa047251.97770043
14Salivary secretion_Homo sapiens_hsa049701.95639530
15Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.86896066
16Insulin secretion_Homo sapiens_hsa049111.79650454
17Gastric acid secretion_Homo sapiens_hsa049711.71383758
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65691786
19Taste transduction_Homo sapiens_hsa047421.64882858
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.64820642
21Long-term depression_Homo sapiens_hsa047301.64075087
22Cocaine addiction_Homo sapiens_hsa050301.60983570
23Serotonergic synapse_Homo sapiens_hsa047261.60627936
24Renin secretion_Homo sapiens_hsa049241.57097191
25* Axon guidance_Homo sapiens_hsa043601.55120344
26Oxytocin signaling pathway_Homo sapiens_hsa049211.50386158
27Gap junction_Homo sapiens_hsa045401.47369610
28GnRH signaling pathway_Homo sapiens_hsa049121.44422010
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39049938
30Type II diabetes mellitus_Homo sapiens_hsa049301.38919159
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.38839745
32Estrogen signaling pathway_Homo sapiens_hsa049151.30028094
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.29626164
34Calcium signaling pathway_Homo sapiens_hsa040201.27133664
35Glioma_Homo sapiens_hsa052141.22250601
36ErbB signaling pathway_Homo sapiens_hsa040121.18519142
37cAMP signaling pathway_Homo sapiens_hsa040241.12885264
38Collecting duct acid secretion_Homo sapiens_hsa049661.06957421
39Melanogenesis_Homo sapiens_hsa049161.06136400
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05476711
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03022357
42Neurotrophin signaling pathway_Homo sapiens_hsa047221.00280349
43Hippo signaling pathway_Homo sapiens_hsa043900.99707876
44Endometrial cancer_Homo sapiens_hsa052130.96370097
45Dorso-ventral axis formation_Homo sapiens_hsa043200.94781835
46Oocyte meiosis_Homo sapiens_hsa041140.91281870
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90901446
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.89734607
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85677128
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.84690807
51Vitamin B6 metabolism_Homo sapiens_hsa007500.82940836
52VEGF signaling pathway_Homo sapiens_hsa043700.80403697
53ECM-receptor interaction_Homo sapiens_hsa045120.79072520
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78850094
55Choline metabolism in cancer_Homo sapiens_hsa052310.78560722
56MAPK signaling pathway_Homo sapiens_hsa040100.77717057
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77409046
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76173070
59Vascular smooth muscle contraction_Homo sapiens_hsa042700.75847575
60Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75804169
61Vibrio cholerae infection_Homo sapiens_hsa051100.75411450
62Focal adhesion_Homo sapiens_hsa045100.74816454
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.73685366
64Colorectal cancer_Homo sapiens_hsa052100.71652832
65Cardiac muscle contraction_Homo sapiens_hsa042600.70519359
66Phototransduction_Homo sapiens_hsa047440.69296289
67Pancreatic secretion_Homo sapiens_hsa049720.68810014
68Tight junction_Homo sapiens_hsa045300.68440499
69Thyroid hormone synthesis_Homo sapiens_hsa049180.68055528
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.68033730
71mTOR signaling pathway_Homo sapiens_hsa041500.67769052
72* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.67263018
73Adherens junction_Homo sapiens_hsa045200.66893233
74Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.66784853
75Dilated cardiomyopathy_Homo sapiens_hsa054140.66728097
76Ras signaling pathway_Homo sapiens_hsa040140.66560716
77Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.66341215
78Renal cell carcinoma_Homo sapiens_hsa052110.65353562
79Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64446487
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64279369
81AMPK signaling pathway_Homo sapiens_hsa041520.64268403
82Insulin signaling pathway_Homo sapiens_hsa049100.63274701
83Endocytosis_Homo sapiens_hsa041440.62807756
84Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62636070
85Rap1 signaling pathway_Homo sapiens_hsa040150.60841203
86Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.60681983
87Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56915181
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56458719
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56281858
90Alcoholism_Homo sapiens_hsa050340.54840852
91Non-small cell lung cancer_Homo sapiens_hsa052230.54495786
92Proteoglycans in cancer_Homo sapiens_hsa052050.53753104
93Hedgehog signaling pathway_Homo sapiens_hsa043400.53150645
94Prolactin signaling pathway_Homo sapiens_hsa049170.52416276
95Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52020997
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51087514
97Thyroid cancer_Homo sapiens_hsa052160.50957498
98Chronic myeloid leukemia_Homo sapiens_hsa052200.50317448
99Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49832358
100Melanoma_Homo sapiens_hsa052180.49664145
101Bile secretion_Homo sapiens_hsa049760.49500792
102Wnt signaling pathway_Homo sapiens_hsa043100.48813343
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48046828
104Chemokine signaling pathway_Homo sapiens_hsa040620.47971126
105Biosynthesis of amino acids_Homo sapiens_hsa012300.46759364
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46293016
107Basal cell carcinoma_Homo sapiens_hsa052170.45333776
108Glucagon signaling pathway_Homo sapiens_hsa049220.43908925
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.40752521
110Prion diseases_Homo sapiens_hsa050200.40728730
111Salmonella infection_Homo sapiens_hsa051320.36870680
112Platelet activation_Homo sapiens_hsa046110.35494449
113Type I diabetes mellitus_Homo sapiens_hsa049400.34784266
114Inositol phosphate metabolism_Homo sapiens_hsa005620.34751514
115SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34594513
116Ovarian steroidogenesis_Homo sapiens_hsa049130.34145446
117Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.34057863
118Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.33704492

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