ADGRL3

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 latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.12994787
2pyrimidine nucleobase catabolic process (GO:0006208)5.02081848
3vocalization behavior (GO:0071625)4.98343054
4locomotory exploration behavior (GO:0035641)4.91696431
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.91214972
6ionotropic glutamate receptor signaling pathway (GO:0035235)4.85443356
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.76422536
8regulation of short-term neuronal synaptic plasticity (GO:0048172)4.55400168
9glutamate receptor signaling pathway (GO:0007215)4.50150729
10regulation of glutamate receptor signaling pathway (GO:1900449)4.43514896
11protein localization to synapse (GO:0035418)4.23616087
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.09628065
13exploration behavior (GO:0035640)3.98884884
14membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.97829226
15synaptic transmission, glutamatergic (GO:0035249)3.96039412
16nucleobase catabolic process (GO:0046113)3.95034643
17neuron recognition (GO:0008038)3.90362841
18presynaptic membrane assembly (GO:0097105)3.89282494
19dendritic spine morphogenesis (GO:0060997)3.88531535
20positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.86376663
21postsynaptic membrane organization (GO:0001941)3.81927147
22synaptic vesicle exocytosis (GO:0016079)3.79740192
23G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.79021314
24regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.68445957
25neuron-neuron synaptic transmission (GO:0007270)3.68246042
26neurotransmitter-gated ion channel clustering (GO:0072578)3.68015766
27axonal fasciculation (GO:0007413)3.67908166
28synaptic vesicle maturation (GO:0016188)3.66630989
29regulation of synaptic vesicle exocytosis (GO:2000300)3.59813753
30dendrite morphogenesis (GO:0048813)3.55280875
31layer formation in cerebral cortex (GO:0021819)3.54469122
32gamma-aminobutyric acid signaling pathway (GO:0007214)3.54130534
33negative regulation of synaptic transmission, GABAergic (GO:0032229)3.51642095
34cellular potassium ion homeostasis (GO:0030007)3.49900016
35presynaptic membrane organization (GO:0097090)3.47520008
36regulation of long-term neuronal synaptic plasticity (GO:0048169)3.47115767
37regulation of synaptic transmission, glutamatergic (GO:0051966)3.42271378
38startle response (GO:0001964)3.42059495
39glutamate secretion (GO:0014047)3.41033798
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.36489416
41long-term memory (GO:0007616)3.35115461
42synaptic vesicle docking involved in exocytosis (GO:0016081)3.32560475
43neuronal action potential propagation (GO:0019227)3.31309218
44positive regulation of dendritic spine morphogenesis (GO:0061003)3.30782408
45transmission of nerve impulse (GO:0019226)3.30089489
46regulation of neuronal synaptic plasticity (GO:0048168)3.30055104
47negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.28902750
48regulation of postsynaptic membrane potential (GO:0060078)3.28449878
49negative regulation of cytosolic calcium ion concentration (GO:0051481)3.27842373
50retinal ganglion cell axon guidance (GO:0031290)3.27592278
51regulation of synapse structural plasticity (GO:0051823)3.25219353
52positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.25002816
53innervation (GO:0060384)3.22310925
54central nervous system projection neuron axonogenesis (GO:0021952)3.21010435
55positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.18490856
56neurotransmitter secretion (GO:0007269)3.17805781
57synaptic vesicle endocytosis (GO:0048488)3.15980235
58establishment of mitochondrion localization (GO:0051654)3.15647446
59regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.15393482
60gamma-aminobutyric acid transport (GO:0015812)3.13211494
61regulation of synaptic vesicle transport (GO:1902803)3.09141766
62response to auditory stimulus (GO:0010996)3.08263548
63response to histamine (GO:0034776)3.08194091
64positive regulation of membrane potential (GO:0045838)3.07973648
65cerebellar Purkinje cell differentiation (GO:0021702)3.07962975
66synapse assembly (GO:0007416)3.04694799
67auditory behavior (GO:0031223)3.03635651
68long-term synaptic potentiation (GO:0060291)3.02101825
69positive regulation of synapse assembly (GO:0051965)3.01854493
70regulation of axon guidance (GO:1902667)2.99093441
71proline transport (GO:0015824)2.97001552
72positive regulation of synapse maturation (GO:0090129)2.96058849
73cerebellar granule cell differentiation (GO:0021707)2.95638033
74membrane depolarization during action potential (GO:0086010)2.94169214
75limb bud formation (GO:0060174)2.93609169
76membrane hyperpolarization (GO:0060081)2.93494972
77membrane assembly (GO:0071709)2.93033903
78axon ensheathment in central nervous system (GO:0032291)2.90883927
79central nervous system myelination (GO:0022010)2.90883927
80membrane depolarization (GO:0051899)2.89228510
81regulation of dendritic spine morphogenesis (GO:0061001)2.89004720
82positive regulation of synaptic transmission, GABAergic (GO:0032230)2.88329139
83adult walking behavior (GO:0007628)2.87390480
84dendritic spine organization (GO:0097061)2.84337891
85prepulse inhibition (GO:0060134)2.83756912
86regulation of synaptic plasticity (GO:0048167)2.81900399
87regulation of synapse assembly (GO:0051963)2.81592713
88learning (GO:0007612)2.81240926
89calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.81058067
90behavioral fear response (GO:0001662)2.80603799
91behavioral defense response (GO:0002209)2.80603799
92heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)2.79791013
93negative regulation of dendrite development (GO:2000171)2.78949762
94cochlea development (GO:0090102)2.76769097
95neurotransmitter transport (GO:0006836)2.75207212
96positive regulation of potassium ion transmembrane transport (GO:1901381)2.74582498
97regulation of neurotransmitter secretion (GO:0046928)2.74125831
98cell migration in hindbrain (GO:0021535)2.73084137
99regulation of synapse maturation (GO:0090128)2.71798239
100neuronal ion channel clustering (GO:0045161)2.71534057
101neuron migration (GO:0001764)2.70615914
102regulation of dendritic spine development (GO:0060998)2.69068958
103axonogenesis (GO:0007409)2.68756872
104fear response (GO:0042596)2.68249783
105synapse organization (GO:0050808)2.67355164
106L-amino acid import (GO:0043092)2.67148553
107response to pheromone (GO:0019236)2.66015714
108regulation of axon extension involved in axon guidance (GO:0048841)2.65928546
109regulation of respiratory system process (GO:0044065)2.65337539
110cerebral cortex radially oriented cell migration (GO:0021799)2.65021390
111axon extension (GO:0048675)2.65012723
112righting reflex (GO:0060013)2.64487977
113neuronal stem cell maintenance (GO:0097150)2.64351061
114regulation of synapse organization (GO:0050807)2.64260366
115regulation of vesicle fusion (GO:0031338)2.62734438
116mechanosensory behavior (GO:0007638)2.62596282
117establishment of nucleus localization (GO:0040023)2.62523547
118regulation of synaptic transmission, GABAergic (GO:0032228)2.62169795
119positive regulation of dendritic spine development (GO:0060999)2.61887279
120cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.59513142
121neuromuscular process controlling balance (GO:0050885)2.59415428
122establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.59395857
123mitochondrion transport along microtubule (GO:0047497)2.59395857
124cell communication by electrical coupling (GO:0010644)2.58764846
125cilium movement (GO:0003341)2.58315344
126central nervous system neuron axonogenesis (GO:0021955)2.58098883
127nerve growth factor signaling pathway (GO:0038180)2.58011272

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.08363161
2GBX2_23144817_ChIP-Seq_PC3_Human3.96693356
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.98385125
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86833151
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.71777250
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.67135754
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.54433794
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.43372558
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.42715778
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.38912226
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.38912226
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.38516683
13RBPJ_22232070_ChIP-Seq_NCS_Mouse2.37256630
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.34114554
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.33984322
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.27915559
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.18709927
18AR_21572438_ChIP-Seq_LNCaP_Human2.17671477
19TAF15_26573619_Chip-Seq_HEK293_Human2.11435664
20MTF2_20144788_ChIP-Seq_MESCs_Mouse2.10026418
21ZFP57_27257070_Chip-Seq_ESCs_Mouse2.07870714
22REST_21632747_ChIP-Seq_MESCs_Mouse2.05351018
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.04074285
24SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.02666772
25CTBP2_25329375_ChIP-Seq_LNCAP_Human1.93195505
26EZH2_27294783_Chip-Seq_ESCs_Mouse1.91054356
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.89306399
28SUZ12_27294783_Chip-Seq_ESCs_Mouse1.87446778
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.83034886
30IGF1R_20145208_ChIP-Seq_DFB_Human1.81752620
31DROSHA_22980978_ChIP-Seq_HELA_Human1.81541078
32PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80509670
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78315161
34IKZF1_21737484_ChIP-ChIP_HCT116_Human1.76020619
35SMAD4_21799915_ChIP-Seq_A2780_Human1.75356667
36P300_19829295_ChIP-Seq_ESCs_Human1.72649511
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.71832811
38CBX2_27304074_Chip-Seq_ESCs_Mouse1.66955046
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.62249727
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.61352174
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60953371
42CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.60645689
43RARB_27405468_Chip-Seq_BRAIN_Mouse1.54081080
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.52937359
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.52552299
46NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.50447558
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.49791486
48ZNF274_21170338_ChIP-Seq_K562_Hela1.47127514
49FUS_26573619_Chip-Seq_HEK293_Human1.46664134
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.46525952
51CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42203929
52REST_18959480_ChIP-ChIP_MESCs_Mouse1.40605661
53STAT3_23295773_ChIP-Seq_U87_Human1.39627840
54ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39433986
55AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36721767
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36674253
57AR_25329375_ChIP-Seq_VCAP_Human1.36061154
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35842200
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35487210
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34786094
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34569796
62RNF2_27304074_Chip-Seq_NSC_Mouse1.33818546
63BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33471999
64TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.33241555
65VDR_22108803_ChIP-Seq_LS180_Human1.31919728
66SALL1_21062744_ChIP-ChIP_HESCs_Human1.28144238
67TP53_16413492_ChIP-PET_HCT116_Human1.27478251
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.27350734
69SOX2_21211035_ChIP-Seq_LN229_Gbm1.26152738
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.25776867
71LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24441072
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.24313688
73TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24313688
74SOX9_26525672_Chip-Seq_HEART_Mouse1.24174283
75TCF4_23295773_ChIP-Seq_U87_Human1.22875181
76ER_23166858_ChIP-Seq_MCF-7_Human1.21183967
77NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21085318
78KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.19617158
79POU5F1_16153702_ChIP-ChIP_HESCs_Human1.19146987
80NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18938435
81RING1B_27294783_Chip-Seq_ESCs_Mouse1.18853632
82STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.18060434
83CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17284505
84P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16811653
85YAP1_20516196_ChIP-Seq_MESCs_Mouse1.16571520
86RUNX2_22187159_ChIP-Seq_PCA_Human1.16157309
87AHR_22903824_ChIP-Seq_MCF-7_Human1.15851038
88AR_19668381_ChIP-Seq_PC3_Human1.15535050
89TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14431808
90TP53_18474530_ChIP-ChIP_U2OS_Human1.13883093
91UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13524098
92E2F1_18555785_Chip-Seq_ESCs_Mouse1.12524560
93RING1B_27294783_Chip-Seq_NPCs_Mouse1.12262025
94EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09750925
95RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09703919
96EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.08615408
97VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07369137
98EWS_26573619_Chip-Seq_HEK293_Human1.06939788
99WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06894378
100GATA1_26923725_Chip-Seq_HPCs_Mouse1.06649967
101TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05447808
102TAL1_26923725_Chip-Seq_HPCs_Mouse1.05051593
103SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04381823
104PCGF2_27294783_Chip-Seq_ESCs_Mouse1.04197362
105CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04160722
106EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03196050
107FLI1_27457419_Chip-Seq_LIVER_Mouse1.02241523
108SMAD3_21741376_ChIP-Seq_ESCs_Human1.01962808
109MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01076259
110ISL1_27105846_Chip-Seq_CPCs_Mouse1.00868700
111CMYC_18555785_Chip-Seq_ESCs_Mouse1.00761965
112MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00384974
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99748548
114TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99747767
115P53_22387025_ChIP-Seq_ESCs_Mouse0.99390463
116RXR_22108803_ChIP-Seq_LS180_Human0.97579507
117ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95384024

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.11212315
2MP0003880_abnormal_central_pattern4.33335223
3MP0003635_abnormal_synaptic_transmissio3.57390957
4MP0004270_analgesia3.37870234
5MP0009745_abnormal_behavioral_response2.99035257
6MP0002063_abnormal_learning/memory/cond2.90472612
7MP0001486_abnormal_startle_reflex2.83305184
8MP0001968_abnormal_touch/_nociception2.71811334
9MP0002064_seizures2.64684379
10MP0002572_abnormal_emotion/affect_behav2.64409265
11MP0009046_muscle_twitch2.64164110
12MP0005423_abnormal_somatic_nervous2.50797978
13MP0002734_abnormal_mechanical_nocicepti2.48376756
14MP0000778_abnormal_nervous_system2.31299439
15MP0002736_abnormal_nociception_after2.24690491
16MP0002272_abnormal_nervous_system2.23312911
17MP0001501_abnormal_sleep_pattern2.18312978
18MP0003787_abnormal_imprinting2.13336916
19MP0001440_abnormal_grooming_behavior2.09171978
20MP0002735_abnormal_chemical_nociception1.99948450
21MP0002184_abnormal_innervation1.99761436
22MP0001188_hyperpigmentation1.96343798
23MP0005646_abnormal_pituitary_gland1.94060411
24MP0002067_abnormal_sensory_capabilities1.92089143
25MP0005645_abnormal_hypothalamus_physiol1.89772842
26MP0000569_abnormal_digit_pigmentation1.85924307
27MP0002557_abnormal_social/conspecific_i1.81881149
28MP0006276_abnormal_autonomic_nervous1.72167335
29MP0001970_abnormal_pain_threshold1.69771481
30MP0003122_maternal_imprinting1.67480135
31MP0001984_abnormal_olfaction1.67168762
32MP0002733_abnormal_thermal_nociception1.66387117
33MP0005257_abnormal_intraocular_pressure1.63187128
34MP0000566_synostosis1.53432727
35MP0004885_abnormal_endolymph1.52573982
36MP0004858_abnormal_nervous_system1.46945514
37MP0000955_abnormal_spinal_cord1.45589829
38MP0003890_abnormal_embryonic-extraembry1.45452962
39MP0008569_lethality_at_weaning1.42698622
40MP0003136_yellow_coat_color1.41892350
41MP0001299_abnormal_eye_distance/1.41507848
42MP0002882_abnormal_neuron_morphology1.40154743
43MP0005386_behavior/neurological_phenoty1.36049864
44MP0004924_abnormal_behavior1.36049864
45MP0006292_abnormal_olfactory_placode1.35919114
46MP0002653_abnormal_ependyma_morphology1.35780844
47MP0004811_abnormal_neuron_physiology1.34799430
48MP0002822_catalepsy1.32016105
49MP0004742_abnormal_vestibular_system1.31921269
50MP0009780_abnormal_chondrocyte_physiolo1.31135842
51MP0001529_abnormal_vocalization1.30503988
52MP0005551_abnormal_eye_electrophysiolog1.28317773
53MP0005409_darkened_coat_color1.27942919
54MP0003119_abnormal_digestive_system1.26535512
55MP0002066_abnormal_motor_capabilities/c1.24318094
56MP0001502_abnormal_circadian_rhythm1.23092625
57MP0000631_abnormal_neuroendocrine_gland1.18494996
58MP0002152_abnormal_brain_morphology1.17912892
59MP0004133_heterotaxia1.17881048
60MP0000537_abnormal_urethra_morphology1.17239410
61MP0005253_abnormal_eye_physiology1.15435330
62MP0004142_abnormal_muscle_tone1.14562794
63MP0003937_abnormal_limbs/digits/tail_de1.11103278
64MP0003879_abnormal_hair_cell1.10231793
65MP0001293_anophthalmia1.09783480
66MP0002938_white_spotting1.08427461
67MP0002751_abnormal_autonomic_nervous1.04057939
68MP0000534_abnormal_ureter_morphology1.03311079
69MP0005171_absent_coat_pigmentation1.02844731
70MP0003633_abnormal_nervous_system1.02099691
71MP0010030_abnormal_orbit_morphology1.00018134
72MP0001963_abnormal_hearing_physiology0.99493062
73MP0004145_abnormal_muscle_electrophysio0.98650519
74MP0002909_abnormal_adrenal_gland0.98499635
75MP0003121_genomic_imprinting0.98043933
76MP0002234_abnormal_pharynx_morphology0.97814056
77MP0003283_abnormal_digestive_organ0.97234718
78MP0004085_abnormal_heartbeat0.96718777
79MP0002752_abnormal_somatic_nervous0.96469250
80MP0009250_abnormal_appendicular_skeleto0.95864133
81MP0002233_abnormal_nose_morphology0.93713279
82MP0002102_abnormal_ear_morphology0.92579442
83MP0010386_abnormal_urinary_bladder0.91914551
84MP0003631_nervous_system_phenotype0.89146323
85MP0001346_abnormal_lacrimal_gland0.86777872
86MP0002697_abnormal_eye_size0.86590189
87MP0001177_atelectasis0.86396439
88MP0003011_delayed_dark_adaptation0.85708641
89MP0003942_abnormal_urinary_system0.85100577
90MP0001905_abnormal_dopamine_level0.84935877
91MP0002638_abnormal_pupillary_reflex0.84466921
92MP0005391_vision/eye_phenotype0.83915316
93MP0003634_abnormal_glial_cell0.83189230
94MP0002163_abnormal_gland_morphology0.82609369
95MP0000026_abnormal_inner_ear0.82521290
96MP0003861_abnormal_nervous_system0.82397009
97MP0005195_abnormal_posterior_eye0.81949978
98MP0002081_perinatal_lethality0.80313074
99MP0003385_abnormal_body_wall0.79976747
100MP0002069_abnormal_eating/drinking_beha0.79505132
101MP0002249_abnormal_larynx_morphology0.78845153
102MP0001286_abnormal_eye_development0.78829604
103MP0003938_abnormal_ear_development0.78679254
104MP0005248_abnormal_Harderian_gland0.77496916
105MP0005379_endocrine/exocrine_gland_phen0.76728597
106MP0002090_abnormal_vision0.76412204
107MP0002229_neurodegeneration0.74989681
108MP0001485_abnormal_pinna_reflex0.74086253
109MP0000049_abnormal_middle_ear0.74065889
110MP0003329_amyloid_beta_deposits0.73889600
111MP0005394_taste/olfaction_phenotype0.73552845
112MP0005499_abnormal_olfactory_system0.73552845
113MP0006072_abnormal_retinal_apoptosis0.72918630
114MP0003137_abnormal_impulse_conducting0.72312032
115MP0003755_abnormal_palate_morphology0.70059380
116MP0003045_fibrosis0.66788052
117MP0003632_abnormal_nervous_system0.66731100
118MP0000920_abnormal_myelination0.66366204
119MP0001943_abnormal_respiration0.66228145
120MP0004484_altered_response_of0.62520789
121MP0005187_abnormal_penis_morphology0.61551332
122MP0004215_abnormal_myocardial_fiber0.61318496
123MP0002082_postnatal_lethality0.60788372
124MP0010770_preweaning_lethality0.60788372

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.71540679
2Focal seizures (HP:0007359)4.62899077
3Febrile seizures (HP:0002373)4.60967159
4Epileptic encephalopathy (HP:0200134)4.39136514
5Myokymia (HP:0002411)4.06566195
6Atonic seizures (HP:0010819)3.81377127
7Progressive cerebellar ataxia (HP:0002073)3.76589290
8Absence seizures (HP:0002121)3.42646439
9Action tremor (HP:0002345)3.32675694
10Broad-based gait (HP:0002136)3.25772923
11Visual hallucinations (HP:0002367)3.24829892
12Vitreoretinal degeneration (HP:0000655)3.16873583
13Dialeptic seizures (HP:0011146)3.10860431
14Hyperventilation (HP:0002883)3.10549108
15Generalized tonic-clonic seizures (HP:0002069)3.03405075
16Excessive salivation (HP:0003781)2.99186233
17Drooling (HP:0002307)2.99186233
18Short 4th metacarpal (HP:0010044)2.89955949
19Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.89955949
20Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.81435357
21Absent speech (HP:0001344)2.77072677
22Gaze-evoked nystagmus (HP:0000640)2.72714516
23Genetic anticipation (HP:0003743)2.70898196
24Chronic hepatic failure (HP:0100626)2.69746821
25Hepatoblastoma (HP:0002884)2.66082135
26Truncal ataxia (HP:0002078)2.45815598
27Hemiparesis (HP:0001269)2.41116923
28Anophthalmia (HP:0000528)2.35063329
29Abnormality of the 4th metacarpal (HP:0010012)2.33129332
30Pancreatic fibrosis (HP:0100732)2.33002517
31Dysdiadochokinesis (HP:0002075)2.31539260
32True hermaphroditism (HP:0010459)2.29739054
33Widely spaced teeth (HP:0000687)2.24711680
34Mutism (HP:0002300)2.23226858
35Supranuclear gaze palsy (HP:0000605)2.22933287
36Renal hypoplasia (HP:0000089)2.22545102
37Fetal akinesia sequence (HP:0001989)2.22115713
38Genital tract atresia (HP:0001827)2.21997933
39Nephronophthisis (HP:0000090)2.21898684
40Midline defect of the nose (HP:0004122)2.21387915
41Urinary bladder sphincter dysfunction (HP:0002839)2.20809085
42Vaginal atresia (HP:0000148)2.20408022
43Split foot (HP:0001839)2.17120172
44Aplasia involving bones of the upper limbs (HP:0009823)2.14300949
45Aplasia of the phalanges of the hand (HP:0009802)2.14300949
46Aplasia involving bones of the extremities (HP:0009825)2.14300949
47Occipital encephalocele (HP:0002085)2.11547666
48Amblyopia (HP:0000646)2.11078799
49Abnormality of the nasal septum (HP:0000419)2.10736896
50Dysmetria (HP:0001310)2.09489093
51Abnormality of salivation (HP:0100755)2.08811232
52Dynein arm defect of respiratory motile cilia (HP:0012255)2.07870939
53Absent/shortened dynein arms (HP:0200106)2.07870939
54Epileptiform EEG discharges (HP:0011182)2.05147841
55Poor eye contact (HP:0000817)2.02785461
56Blue irides (HP:0000635)2.02651323
57Pancreatic cysts (HP:0001737)2.01699563
58Intellectual disability, moderate (HP:0002342)2.01420978
59Abnormal eating behavior (HP:0100738)2.01213522
60Urinary urgency (HP:0000012)2.00201894
61Abnormality of the ischium (HP:0003174)1.99085580
62Septo-optic dysplasia (HP:0100842)1.98450786
63Aqueductal stenosis (HP:0002410)1.98098910
64Protruding tongue (HP:0010808)1.96860345
65Lissencephaly (HP:0001339)1.96240549
66Impaired vibration sensation in the lower limbs (HP:0002166)1.95810509
67Gastroesophageal reflux (HP:0002020)1.95786678
68Optic nerve hypoplasia (HP:0000609)1.95530276
69Ulnar claw (HP:0001178)1.94209384
70Progressive inability to walk (HP:0002505)1.92670902
71Spastic gait (HP:0002064)1.90658979
72Polyphagia (HP:0002591)1.90325250
73EEG with generalized epileptiform discharges (HP:0011198)1.90055760
74Abnormality of midbrain morphology (HP:0002418)1.89823832
75Molar tooth sign on MRI (HP:0002419)1.89823832
76Abnormality of binocular vision (HP:0011514)1.89822132
77Diplopia (HP:0000651)1.89822132
78Spastic tetraplegia (HP:0002510)1.89293109
79Abnormal ciliary motility (HP:0012262)1.89049350
80Anxiety (HP:0000739)1.87217137
81Exotropia (HP:0000577)1.86931144
82Narrow forehead (HP:0000341)1.86196992
83Aplasia/Hypoplasia of the brainstem (HP:0007362)1.86174060
84Hypoplasia of the brainstem (HP:0002365)1.86174060
85Termporal pattern (HP:0011008)1.84570199
86Insidious onset (HP:0003587)1.84570199
87Inappropriate behavior (HP:0000719)1.83756559
88Medial flaring of the eyebrow (HP:0010747)1.83524705
89Abnormality of the lower motor neuron (HP:0002366)1.83078958
90Inability to walk (HP:0002540)1.82953576
91Narrow nasal bridge (HP:0000446)1.82796384
92Postural instability (HP:0002172)1.82121410
93Pachygyria (HP:0001302)1.82032404
94Abnormality of the renal medulla (HP:0100957)1.81935468
95Postaxial hand polydactyly (HP:0001162)1.81923523
96Large eyes (HP:0001090)1.81480737
97Preaxial foot polydactyly (HP:0001841)1.80891722
98Abnormality of the corticospinal tract (HP:0002492)1.80833095
99Megalencephaly (HP:0001355)1.80165169
100Abnormal social behavior (HP:0012433)1.79873693
101Impaired social interactions (HP:0000735)1.79873693
102Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.79775788
103Degeneration of the lateral corticospinal tracts (HP:0002314)1.79775788
104Congenital primary aphakia (HP:0007707)1.79151794
105Impaired smooth pursuit (HP:0007772)1.79013022
106Rhinitis (HP:0012384)1.78227472
107Depression (HP:0000716)1.76271737
108Abnormality of incisor morphology (HP:0011063)1.76077729
109Bradycardia (HP:0001662)1.75285786
110Deeply set eye (HP:0000490)1.75057809
111Cutaneous finger syndactyly (HP:0010554)1.73682240
112Papillary thyroid carcinoma (HP:0002895)1.73540666
113Stereotypic behavior (HP:0000733)1.73525085
114Cortical dysplasia (HP:0002539)1.72574645
115Hypoplasia of the corpus callosum (HP:0002079)1.72426666
116Ankle clonus (HP:0011448)1.71683333
117Autism (HP:0000717)1.71443918
118Hemiplegia (HP:0002301)1.71306820
119Bifid tongue (HP:0010297)1.71280424
120Anencephaly (HP:0002323)1.70125304
121Morphological abnormality of the middle ear (HP:0008609)1.68697607
122Neurofibrillary tangles (HP:0002185)1.68685802
123Amyotrophic lateral sclerosis (HP:0007354)1.68310222
124Status epilepticus (HP:0002133)1.68128908
125Hypsarrhythmia (HP:0002521)1.67661321
126Myelomeningocele (HP:0002475)1.67204648
127Agitation (HP:0000713)1.65637710
128Alacrima (HP:0000522)1.64831875
129Omphalocele (HP:0001539)1.64289042
130Volvulus (HP:0002580)1.64160800
131Morphological abnormality of the pyramidal tract (HP:0002062)1.64146140
132Oligodactyly (hands) (HP:0001180)1.63957074
133Aplasia/Hypoplasia of the tibia (HP:0005772)1.63366515
134Arterial tortuosity (HP:0005116)1.62767544
135Esophageal atresia (HP:0002032)1.62224546
136Abnormal hair whorl (HP:0010721)1.61609711
137Scanning speech (HP:0002168)1.60752255
138Obstructive sleep apnea (HP:0002870)1.60445317
139Abnormality of the labia minora (HP:0012880)1.59391651
140Generalized hypopigmentation of hair (HP:0011358)1.58434405
141Hypoplastic nipples (HP:0002557)1.58191657
142Gait imbalance (HP:0002141)1.56919288
143Abnormal respiratory motile cilium physiology (HP:0012261)1.56863964
144Growth hormone deficiency (HP:0000824)1.56548110
145Abnormality of ocular smooth pursuit (HP:0000617)1.55658367
146Macroglossia (HP:0000158)1.55350825
147Cutaneous syndactyly (HP:0012725)1.54364638
148Limb dystonia (HP:0002451)1.52624713
149Prolonged QT interval (HP:0001657)1.51401171
150Retinal dysplasia (HP:0007973)1.51062963
151Incomplete penetrance (HP:0003829)1.49485396
152Abnormal EKG (HP:0003115)1.49382038

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.43041238
2EPHA43.57944163
3CASK3.57941342
4MARK13.42531317
5MAP3K42.65640906
6NTRK22.57308187
7TNIK2.57134815
8MAP2K72.33580960
9MAP3K92.31614611
10SIK22.27789363
11MAPK132.19142875
12MINK12.10726748
13RIPK41.85040905
14PAK61.64599361
15PLK21.64064120
16SIK31.55211353
17PNCK1.54960574
18CAMK1G1.51715430
19PRPF4B1.41432118
20MAP2K41.40826253
21DAPK21.32743233
22NTRK11.28340836
23CDK51.25180159
24KSR11.24097307
25MAP3K121.23337821
26EPHA31.18134014
27GRK71.11876163
28SGK21.10295924
29CDK81.08856032
30PHKG21.08470374
31PHKG11.08470374
32INSRR1.04971157
33PINK11.04952007
34AKT31.04198022
35STK381.04149409
36CAMK2A1.03920787
37MUSK1.00226096
38PRKD31.00080806
39MKNK20.97939624
40PRKCG0.97798949
41ERBB30.97104855
42CAMKK10.97002866
43SGK2230.94169372
44SGK4940.94169372
45LATS20.93417232
46GRK50.93008042
47CDK30.91726661
48DMPK0.89227249
49FRK0.87198712
50MARK20.86910228
51BMPR1B0.86475853
52SGK10.86473379
53CAMK1D0.86452610
54CCNB10.85562661
55CAMK10.84561630
56FES0.82904791
57TAOK10.81369406
58BMPR20.79830897
59CSNK1G10.79056670
60CAMK2B0.78573310
61DYRK1A0.77728853
62PRKCE0.75129829
63WNK10.75124857
64CAMKK20.73243947
65DAPK10.73024911
66STK110.71933376
67FGR0.70996921
68SGK30.70870775
69UHMK10.69960738
70CSNK1G30.69827536
71CSNK1G20.69442327
72TYRO30.67801378
73CAMK40.65541130
74NEK60.65143309
75PAK30.64188828
76STK390.64151758
77MAPK150.63039049
78EPHB20.61608203
79MAP3K60.60156093
80MAPK100.59135599
81ERBB20.59116919
82PKN10.59025984
83WNK30.58887163
84RPS6KA30.58507225
85LATS10.58006020
86STK38L0.54894176
87MKNK10.53143019
88PRKCH0.52824875
89FGFR20.52571727
90PRKCZ0.51693878
91CDK180.51213579
92PTK2B0.50409254
93MAP3K100.49940303
94DYRK30.49541830
95PRKG10.49106362
96RET0.49102012
97CDK150.47838074
98CDK190.47655656
99BRD40.47258624
100BCR0.46289982
101CDC42BPA0.46004399
102CDK140.45677133
103MAP3K130.44976983
104ADRBK20.44278848
105CSNK1E0.44055832
106CDK11A0.43840127
107MAP4K20.43759008
108OXSR10.43545750
109CAMK2D0.42542914
110DYRK20.41520206
111FYN0.41121888
112DYRK1B0.40775526
113PRKACB0.40720568
114GSK3B0.40470072
115ERBB40.39771042
116FER0.39408214
117CSNK1A1L0.39104991
118TNK20.38612738
119ROCK10.38479957
120PDGFRB0.37670030
121CSNK1D0.37266909
122PIK3CA0.35659300
123PRKACA0.34806819
124TIE10.33510663
125CAMK2G0.31831111
126FGFR10.31612891

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.13080795
2Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.71594521
3Glutamatergic synapse_Homo sapiens_hsa047242.55707168
4GABAergic synapse_Homo sapiens_hsa047272.50578227
5Circadian entrainment_Homo sapiens_hsa047132.49154194
6Morphine addiction_Homo sapiens_hsa050322.45461311
7Long-term potentiation_Homo sapiens_hsa047202.29340213
8Olfactory transduction_Homo sapiens_hsa047402.28105059
9Amphetamine addiction_Homo sapiens_hsa050312.24835277
10Synaptic vesicle cycle_Homo sapiens_hsa047212.14757018
11Salivary secretion_Homo sapiens_hsa049702.06413470
12Taste transduction_Homo sapiens_hsa047421.93945259
13Dopaminergic synapse_Homo sapiens_hsa047281.89999308
14Insulin secretion_Homo sapiens_hsa049111.87480012
15Renin secretion_Homo sapiens_hsa049241.86024300
16Cholinergic synapse_Homo sapiens_hsa047251.81945623
17Serotonergic synapse_Homo sapiens_hsa047261.76174183
18Cocaine addiction_Homo sapiens_hsa050301.73521334
19Calcium signaling pathway_Homo sapiens_hsa040201.63458967
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.63394693
21Gastric acid secretion_Homo sapiens_hsa049711.61965349
22Long-term depression_Homo sapiens_hsa047301.61680608
23Axon guidance_Homo sapiens_hsa043601.58230163
24Oxytocin signaling pathway_Homo sapiens_hsa049211.55167120
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51062378
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.49810225
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.47376356
28cAMP signaling pathway_Homo sapiens_hsa040241.40673004
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.38267552
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34992634
31GnRH signaling pathway_Homo sapiens_hsa049121.27524140
32Gap junction_Homo sapiens_hsa045401.23438635
33Type II diabetes mellitus_Homo sapiens_hsa049301.21735618
34Glioma_Homo sapiens_hsa052141.18299677
35cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16381302
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14011905
37ErbB signaling pathway_Homo sapiens_hsa040121.10811917
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07919814
39Estrogen signaling pathway_Homo sapiens_hsa049151.07836539
40Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.06628905
41Phototransduction_Homo sapiens_hsa047441.04405656
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03601436
43Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.03087033
44Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.01701083
45Melanogenesis_Homo sapiens_hsa049161.00344492
46Phosphatidylinositol signaling system_Homo sapiens_hsa040701.00334991
47Dilated cardiomyopathy_Homo sapiens_hsa054140.97862102
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93121165
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.93005202
50Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.89908610
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.87489091
52Choline metabolism in cancer_Homo sapiens_hsa052310.86308945
53Dorso-ventral axis formation_Homo sapiens_hsa043200.86171264
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85393665
55Pancreatic secretion_Homo sapiens_hsa049720.82596945
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.81536880
57Wnt signaling pathway_Homo sapiens_hsa043100.81156036
58Bile secretion_Homo sapiens_hsa049760.81056906
59MAPK signaling pathway_Homo sapiens_hsa040100.80071388
60Collecting duct acid secretion_Homo sapiens_hsa049660.79418999
61Cardiac muscle contraction_Homo sapiens_hsa042600.79019411
62Ras signaling pathway_Homo sapiens_hsa040140.77265689
63Tight junction_Homo sapiens_hsa045300.72120283
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72001247
65Rap1 signaling pathway_Homo sapiens_hsa040150.71230418
66Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69530180
67Endometrial cancer_Homo sapiens_hsa052130.68911090
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.67542409
69Thyroid hormone synthesis_Homo sapiens_hsa049180.66955164
70Renal cell carcinoma_Homo sapiens_hsa052110.66268019
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65354842
72Steroid biosynthesis_Homo sapiens_hsa001000.62802399
73Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62713873
74Melanoma_Homo sapiens_hsa052180.61745755
75Butanoate metabolism_Homo sapiens_hsa006500.60977963
76Colorectal cancer_Homo sapiens_hsa052100.60337234
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.57247116
78Alzheimers disease_Homo sapiens_hsa050100.56807206
79Alcoholism_Homo sapiens_hsa050340.56574037
80Protein digestion and absorption_Homo sapiens_hsa049740.56275019
81Circadian rhythm_Homo sapiens_hsa047100.55553538
82Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54796999
83TGF-beta signaling pathway_Homo sapiens_hsa043500.53894648
84Hedgehog signaling pathway_Homo sapiens_hsa043400.52464429
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.51961524
86Oocyte meiosis_Homo sapiens_hsa041140.51404765
87Ovarian steroidogenesis_Homo sapiens_hsa049130.50638753
88Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50488280
89Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.49087345
90Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.48235693
91African trypanosomiasis_Homo sapiens_hsa051430.46897935
92Non-small cell lung cancer_Homo sapiens_hsa052230.46170982
93Basal cell carcinoma_Homo sapiens_hsa052170.45270342
94Glucagon signaling pathway_Homo sapiens_hsa049220.44844904
95mTOR signaling pathway_Homo sapiens_hsa041500.44610024
96Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44598483
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44313948
98Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44021420
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43966645
100Huntingtons disease_Homo sapiens_hsa050160.43582634
101Inositol phosphate metabolism_Homo sapiens_hsa005620.42918544
102Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42583184
103VEGF signaling pathway_Homo sapiens_hsa043700.42501064
104Mineral absorption_Homo sapiens_hsa049780.42164606
105Parkinsons disease_Homo sapiens_hsa050120.41899759
106Vibrio cholerae infection_Homo sapiens_hsa051100.41187395
107Nitrogen metabolism_Homo sapiens_hsa009100.40937416
108ECM-receptor interaction_Homo sapiens_hsa045120.39545249
109Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38418371
110Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.38253692
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37964478
112Hippo signaling pathway_Homo sapiens_hsa043900.36929943
113Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.36571968
114Chemokine signaling pathway_Homo sapiens_hsa040620.36484273
115Regulation of actin cytoskeleton_Homo sapiens_hsa048100.35721770
116Pancreatic cancer_Homo sapiens_hsa052120.34774839
117Prolactin signaling pathway_Homo sapiens_hsa049170.34030184
118Adherens junction_Homo sapiens_hsa045200.33744627
119Propanoate metabolism_Homo sapiens_hsa006400.32234825

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