LHFPL3

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 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gonadal mesoderm development (GO:0007506)9.44451131
2neuron cell-cell adhesion (GO:0007158)8.25992226
3locomotory exploration behavior (GO:0035641)6.56480981
4presynaptic membrane assembly (GO:0097105)6.52154645
5postsynaptic membrane organization (GO:0001941)6.38702109
6neurotransmitter-gated ion channel clustering (GO:0072578)6.28378857
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.79910502
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.69106749
9vocalization behavior (GO:0071625)5.61763126
10presynaptic membrane organization (GO:0097090)5.55260655
11dermatan sulfate biosynthetic process (GO:0030208)5.41322332
12photoreceptor cell differentiation (GO:0046530)5.21576066
13eye photoreceptor cell differentiation (GO:0001754)5.21576066
14chondroitin sulfate catabolic process (GO:0030207)5.12297470
15positive regulation of synaptic transmission, glutamatergic (GO:0051968)5.02711942
16pyrimidine nucleobase catabolic process (GO:0006208)4.99635866
17dermatan sulfate metabolic process (GO:0030205)4.98121339
18startle response (GO:0001964)4.94437113
19protein localization to synapse (GO:0035418)4.85035393
20regulation of glutamate receptor signaling pathway (GO:1900449)4.77726022
21regulation of respiratory gaseous exchange by neurological system process (GO:0002087)4.76170851
22exploration behavior (GO:0035640)4.73184469
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.58656395
24regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.46918194
25regulation of synaptic vesicle exocytosis (GO:2000300)4.41455399
26regulation of short-term neuronal synaptic plasticity (GO:0048172)4.34678712
27astrocyte differentiation (GO:0048708)4.30513058
28phosphorelay signal transduction system (GO:0000160)4.27000235
29positive regulation of synaptic transmission, GABAergic (GO:0032230)4.06236515
30regulation of respiratory system process (GO:0044065)4.06108942
31ionotropic glutamate receptor signaling pathway (GO:0035235)4.06013894
32positive regulation of oligodendrocyte differentiation (GO:0048714)4.06003395
33long-term synaptic potentiation (GO:0060291)4.04538592
34regulation of synaptic transmission, glutamatergic (GO:0051966)3.99990718
35nephron tubule formation (GO:0072079)3.99441518
36neurotransmitter uptake (GO:0001504)3.97087268
37axon ensheathment in central nervous system (GO:0032291)3.96999372
38central nervous system myelination (GO:0022010)3.96999372
39positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.96222426
40nucleobase catabolic process (GO:0046113)3.95499847
41positive regulation of synapse assembly (GO:0051965)3.93772845
42glycosphingolipid biosynthetic process (GO:0006688)3.93432339
43synaptic vesicle maturation (GO:0016188)3.93375421
44righting reflex (GO:0060013)3.91676815
45gamma-aminobutyric acid transport (GO:0015812)3.86245413
46transmission of nerve impulse (GO:0019226)3.85401641
47positive regulation of membrane potential (GO:0045838)3.81374308
48potassium ion import (GO:0010107)3.76051184
49cerebellar Purkinje cell layer development (GO:0021680)3.74971297
50dendritic spine morphogenesis (GO:0060997)3.74863140
51regulation of synaptic vesicle transport (GO:1902803)3.74832202
52negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.74285341
53synaptic vesicle exocytosis (GO:0016079)3.72072159
54negative regulation of neurotransmitter transport (GO:0051589)3.69422943
55positive regulation of osteoblast proliferation (GO:0033690)3.67460754
56neuron recognition (GO:0008038)3.66278651
57neuronal action potential propagation (GO:0019227)3.63582812
58synaptic transmission, glutamatergic (GO:0035249)3.62543638
59establishment of mitochondrion localization (GO:0051654)3.54065514
60neurotransmitter secretion (GO:0007269)3.54024335
61glutamate receptor signaling pathway (GO:0007215)3.53313300
62negative regulation of oligodendrocyte differentiation (GO:0048715)3.53170365
63positive regulation of potassium ion transmembrane transport (GO:1901381)3.51918180
64glutamate secretion (GO:0014047)3.51556805
65C4-dicarboxylate transport (GO:0015740)3.49521739
66cerebellar granule cell differentiation (GO:0021707)3.48473072
67synapse assembly (GO:0007416)3.48288504
68regulation of oligodendrocyte differentiation (GO:0048713)3.46087461
69regulation of neuronal synaptic plasticity (GO:0048168)3.44482701
70membrane assembly (GO:0071709)3.40136339
71regulation of respiratory gaseous exchange (GO:0043576)3.40096386
72regulation of synapse structural plasticity (GO:0051823)3.39979730
73negative regulation of neurotransmitter secretion (GO:0046929)3.39544876
74innervation (GO:0060384)3.39298673
75neuron-neuron synaptic transmission (GO:0007270)3.38023977
76prepulse inhibition (GO:0060134)3.35479434
77potassium ion homeostasis (GO:0055075)3.35251479
78chondroitin sulfate biosynthetic process (GO:0030206)3.32214382
79membrane hyperpolarization (GO:0060081)3.29775286
80regulation of excitatory postsynaptic membrane potential (GO:0060079)3.29094096
81sodium ion export (GO:0071436)3.28766011
82regulation of neuron projection regeneration (GO:0070570)3.28535539
83regulation of axon regeneration (GO:0048679)3.28535539
84membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.27675058
85enteric nervous system development (GO:0048484)3.26970238
86auditory behavior (GO:0031223)3.24040600
87cerebral cortex radially oriented cell migration (GO:0021799)3.23927162
88Sertoli cell development (GO:0060009)3.23036567
89mechanosensory behavior (GO:0007638)3.21970518
90axonal fasciculation (GO:0007413)3.19811387
91regulation of postsynaptic membrane potential (GO:0060078)3.19033576
92positive regulation of neurological system process (GO:0031646)3.15665377
93calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.15256044
94synaptic vesicle docking involved in exocytosis (GO:0016081)3.12402084
95synapse organization (GO:0050808)3.11500779
96amino acid import (GO:0043090)3.11304247
97layer formation in cerebral cortex (GO:0021819)3.10917961
98glial cell differentiation (GO:0010001)3.09032386
99cellular potassium ion homeostasis (GO:0030007)3.07184877
100response to auditory stimulus (GO:0010996)3.06200694
101positive regulation of synaptic transmission (GO:0050806)3.06133254
102hippocampus development (GO:0021766)3.05924352
103neurotransmitter transport (GO:0006836)3.04838639
104negative regulation of sodium ion transport (GO:0010766)3.04277073
105regulation of long-term neuronal synaptic plasticity (GO:0048169)3.04105585
106neuromuscular process controlling balance (GO:0050885)3.03806960
107gamma-aminobutyric acid signaling pathway (GO:0007214)3.01716595
108regulation of synaptic plasticity (GO:0048167)3.01483651
109alanine transport (GO:0032328)3.00091345
110positive regulation of gliogenesis (GO:0014015)2.99623129
111regulation of gliogenesis (GO:0014013)2.98684312
112dendrite morphogenesis (GO:0048813)2.98047573
113proline transport (GO:0015824)2.97832812
114neuron projection regeneration (GO:0031102)2.96493484
115L-amino acid import (GO:0043092)2.95784422
116axon regeneration (GO:0031103)2.95278131
117adult walking behavior (GO:0007628)2.95074533
118membrane depolarization (GO:0051899)2.94945226
119long-term memory (GO:0007616)2.94333926
120negative regulation of synaptic transmission (GO:0050805)2.93811807
121regulation of synapse assembly (GO:0051963)2.93609308
122regulation of dendritic spine morphogenesis (GO:0061001)2.92830037
123negative regulation of axonogenesis (GO:0050771)2.92809189
124neuromuscular process (GO:0050905)2.92025667
125positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.91971112
126negative regulation of synaptic transmission, GABAergic (GO:0032229)2.90127140
127cerebellar Purkinje cell differentiation (GO:0021702)2.90125845
128regulation of synapse organization (GO:0050807)2.87537722
129oligodendrocyte differentiation (GO:0048709)2.86768008
130positive regulation of synapse maturation (GO:0090129)2.86723679
131regulation of neurotransmitter secretion (GO:0046928)2.84925428
132regulation of transmission of nerve impulse (GO:0051969)2.80912941
133long-chain fatty acid biosynthetic process (GO:0042759)2.80229733
134negative regulation of axon extension (GO:0030517)2.79685431
135G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.79600813
136regulation of neurotransmitter levels (GO:0001505)2.79567720
137detection of mechanical stimulus involved in sensory perception (GO:0050974)2.79002346
138acidic amino acid transport (GO:0015800)2.77153101
139regulation of synaptic transmission (GO:0050804)2.77029215

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.69294977
2EZH2_22144423_ChIP-Seq_EOC_Human4.25480837
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18773852
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11383499
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.94061431
6SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.77045165
7* EZH2_27304074_Chip-Seq_ESCs_Mouse2.73890714
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.71395668
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.71395668
10TAF15_26573619_Chip-Seq_HEK293_Human2.64615903
11* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63702459
12* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63027932
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55513225
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.46379251
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46171829
16* AR_21572438_ChIP-Seq_LNCaP_Human2.45353389
17CTBP2_25329375_ChIP-Seq_LNCAP_Human2.39276869
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.38442360
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.22863355
20* REST_21632747_ChIP-Seq_MESCs_Mouse2.22203426
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.20182002
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14633427
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.13776150
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00727117
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00719986
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00540370
27DROSHA_22980978_ChIP-Seq_HELA_Human1.98918251
28PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.89540874
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.88331102
30SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.85747908
31REST_18959480_ChIP-ChIP_MESCs_Mouse1.82385033
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.81760059
33RARB_27405468_Chip-Seq_BRAIN_Mouse1.80904869
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.76800711
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.76304664
36ZNF274_21170338_ChIP-Seq_K562_Hela1.74570691
37SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.65682128
38OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.63835764
39SMAD3_21741376_ChIP-Seq_EPCs_Human1.63131310
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60539268
41P300_19829295_ChIP-Seq_ESCs_Human1.60121260
42RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.56049935
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.54647140
44IKZF1_21737484_ChIP-ChIP_HCT116_Human1.49543410
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.45815856
46* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.45050199
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.44093543
48* STAT3_23295773_ChIP-Seq_U87_Human1.40214031
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37944034
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35849811
51IGF1R_20145208_ChIP-Seq_DFB_Human1.35356723
52ZNF217_24962896_ChIP-Seq_MCF-7_Human1.34364756
53MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32360407
54POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.30803490
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30803490
56RBPJ_22232070_ChIP-Seq_NCS_Mouse1.30462495
57* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28766560
58RING1B_27294783_Chip-Seq_ESCs_Mouse1.27984846
59* AR_25329375_ChIP-Seq_VCAP_Human1.23697789
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.22655171
61* ER_23166858_ChIP-Seq_MCF-7_Human1.22292413
62AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22290808
63VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.21764072
64CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20328086
65VDR_22108803_ChIP-Seq_LS180_Human1.19863482
66* TCF4_23295773_ChIP-Seq_U87_Human1.19193839
67JUN_21703547_ChIP-Seq_K562_Human1.17717179
68HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.16155195
69STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15917175
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14285694
71PRDM14_20953172_ChIP-Seq_ESCs_Human1.13476160
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13433195
73* AR_19668381_ChIP-Seq_PC3_Human1.13139617
74RUNX2_22187159_ChIP-Seq_PCA_Human1.11571497
75TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.11453635
76RNF2_27304074_Chip-Seq_NSC_Mouse1.11437697
77ARNT_22903824_ChIP-Seq_MCF-7_Human1.10993270
78* ERG_21242973_ChIP-ChIP_JURKAT_Human1.10903043
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.10814385
80EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10332645
81BCAT_22108803_ChIP-Seq_LS180_Human1.10113467
82* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.10071401
83CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09383782
84TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08825655
85AHR_22903824_ChIP-Seq_MCF-7_Human1.08623448
86NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08385490
87TAL1_26923725_Chip-Seq_HPCs_Mouse1.08147793
88RING1B_27294783_Chip-Seq_NPCs_Mouse1.06203002
89P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05064705
90SOX9_26525672_Chip-Seq_HEART_Mouse1.04747439
91SMAD_19615063_ChIP-ChIP_OVARY_Human1.03471620
92DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03112768
93KDM2B_26808549_Chip-Seq_REH_Human1.02630979
94WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02469644
95TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02296338
96BMI1_23680149_ChIP-Seq_NPCS_Mouse1.01101819
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.99764761
98SALL1_21062744_ChIP-ChIP_HESCs_Human0.99331656
99NANOG_18555785_Chip-Seq_ESCs_Mouse0.99312063
100FUS_26573619_Chip-Seq_HEK293_Human0.98717241
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98606440
102TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98534860
103TRIM28_21343339_ChIP-Seq_HEK293_Human0.98273577
104TP53_16413492_ChIP-PET_HCT116_Human0.97711735
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97327967
106SUZ12_27294783_Chip-Seq_NPCs_Mouse0.97099537
107EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96515069
108SMAD3_21741376_ChIP-Seq_HESCs_Human0.96244128
109FLI1_21867929_ChIP-Seq_TH2_Mouse0.95329729
110SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.95053749
111LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94332884
112TP53_18474530_ChIP-ChIP_U2OS_Human0.93747570
113ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93742628
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.93367235
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93111931
116SMAD4_21741376_ChIP-Seq_EPCs_Human0.91993799
117SMAD4_21741376_ChIP-Seq_HESCs_Human0.91050864
118IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.89297538
119CBP_20019798_ChIP-Seq_JUKART_Human0.89297538

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern6.15914733
2MP0004859_abnormal_synaptic_plasticity4.12574141
3MP0001968_abnormal_touch/_nociception3.63246918
4MP0003635_abnormal_synaptic_transmissio3.61832243
5MP0002736_abnormal_nociception_after3.61596483
6MP0005423_abnormal_somatic_nervous3.55289619
7MP0004270_analgesia3.38679739
8MP0009745_abnormal_behavioral_response2.98557177
9MP0001486_abnormal_startle_reflex2.92586069
10MP0009046_muscle_twitch2.87678114
11MP0002064_seizures2.75342706
12MP0002063_abnormal_learning/memory/cond2.61398888
13MP0002734_abnormal_mechanical_nocicepti2.60767053
14MP0002272_abnormal_nervous_system2.53358055
15MP0002572_abnormal_emotion/affect_behav2.50158528
16MP0004858_abnormal_nervous_system2.47253605
17MP0002653_abnormal_ependyma_morphology2.32617751
18MP0002067_abnormal_sensory_capabilities2.27060540
19MP0003329_amyloid_beta_deposits2.23101887
20MP0002735_abnormal_chemical_nociception2.19002999
21MP0002733_abnormal_thermal_nociception2.14060110
22MP0006276_abnormal_autonomic_nervous2.00965200
23MP0001970_abnormal_pain_threshold2.00138855
24MP0001501_abnormal_sleep_pattern1.96572865
25MP0001984_abnormal_olfaction1.94847464
26MP0005645_abnormal_hypothalamus_physiol1.94248069
27MP0004742_abnormal_vestibular_system1.92668874
28MP0000778_abnormal_nervous_system1.92348191
29MP0002557_abnormal_social/conspecific_i1.86663868
30MP0004142_abnormal_muscle_tone1.86627499
31MP0002184_abnormal_innervation1.86488745
32MP0001529_abnormal_vocalization1.84588753
33MP0008569_lethality_at_weaning1.68871380
34MP0001440_abnormal_grooming_behavior1.65111589
35MP0005551_abnormal_eye_electrophysiolog1.63477794
36MP0005171_absent_coat_pigmentation1.61021239
37MP0000920_abnormal_myelination1.56517039
38MP0003172_abnormal_lysosome_physiology1.56497664
39MP0000955_abnormal_spinal_cord1.50303018
40MP0002882_abnormal_neuron_morphology1.48194798
41MP0003634_abnormal_glial_cell1.48004292
42MP0004145_abnormal_muscle_electrophysio1.44945767
43MP0005167_abnormal_blood-brain_barrier1.40695588
44MP0003787_abnormal_imprinting1.39978824
45MP0002822_catalepsy1.39441616
46MP0004885_abnormal_endolymph1.38445654
47MP0000049_abnormal_middle_ear1.36096764
48MP0002066_abnormal_motor_capabilities/c1.33975626
49MP0005386_behavior/neurological_phenoty1.33844633
50MP0004924_abnormal_behavior1.33844633
51MP0003941_abnormal_skin_development1.26400731
52MP0004043_abnormal_pH_regulation1.25597723
53MP0003136_yellow_coat_color1.24744703
54MP0003632_abnormal_nervous_system1.24022138
55MP0003690_abnormal_glial_cell1.22755912
56MP0004811_abnormal_neuron_physiology1.22720157
57MP0005646_abnormal_pituitary_gland1.18451729
58MP0001502_abnormal_circadian_rhythm1.17975881
59MP0004215_abnormal_myocardial_fiber1.14318172
60MP0000604_amyloidosis1.13665919
61MP0003631_nervous_system_phenotype1.13568459
62MP0001958_emphysema1.10544492
63MP0003633_abnormal_nervous_system1.08530590
64MP0002229_neurodegeneration1.07782988
65MP0001905_abnormal_dopamine_level1.05234607
66MP0003868_abnormal_feces_composition1.04674862
67MP0002152_abnormal_brain_morphology1.04483269
68MP0006072_abnormal_retinal_apoptosis1.03082797
69MP0001188_hyperpigmentation1.01301319
70MP0002752_abnormal_somatic_nervous0.99772153
71MP0001299_abnormal_eye_distance/0.97936092
72MP0003119_abnormal_digestive_system0.96659794
73MP0001963_abnormal_hearing_physiology0.96580977
74MP0003879_abnormal_hair_cell0.95711668
75MP0002234_abnormal_pharynx_morphology0.94545108
76MP0002102_abnormal_ear_morphology0.94465540
77MP0002909_abnormal_adrenal_gland0.93910174
78MP0002638_abnormal_pupillary_reflex0.89632787
79MP0005253_abnormal_eye_physiology0.87969064
80MP0005394_taste/olfaction_phenotype0.87414807
81MP0005499_abnormal_olfactory_system0.87414807
82MP0005409_darkened_coat_color0.86471231
83MP0000569_abnormal_digit_pigmentation0.86003357
84MP0003385_abnormal_body_wall0.83967020
85MP0002090_abnormal_vision0.83501359
86MP0008872_abnormal_physiological_respon0.83267198
87MP0004085_abnormal_heartbeat0.81747349
88MP0000631_abnormal_neuroendocrine_gland0.80719944
89MP0000579_abnormal_nail_morphology0.80421261
90MP0009780_abnormal_chondrocyte_physiolo0.79934479
91MP0003183_abnormal_peptide_metabolism0.78829371
92MP0008789_abnormal_olfactory_epithelium0.75941690
93MP0001177_atelectasis0.75848848
94MP0001943_abnormal_respiration0.75403103
95MP0003755_abnormal_palate_morphology0.74447001
96MP0000751_myopathy0.73249472
97MP0003011_delayed_dark_adaptation0.72791032
98MP0002069_abnormal_eating/drinking_beha0.72543805
99MP0008874_decreased_physiological_sensi0.70690251
100MP0004134_abnormal_chest_morphology0.70449600
101MP0000534_abnormal_ureter_morphology0.70063092
102MP0003122_maternal_imprinting0.69065893
103MP0002233_abnormal_nose_morphology0.68850373
104MP0000013_abnormal_adipose_tissue0.65840651
105MP0005391_vision/eye_phenotype0.64523789
106MP0002082_postnatal_lethality0.64202585
107MP0003935_abnormal_craniofacial_develop0.64185613
108MP0002751_abnormal_autonomic_nervous0.63745251
109MP0005379_endocrine/exocrine_gland_phen0.63100483
110MP0000647_abnormal_sebaceous_gland0.62389035
111MP0001664_abnormal_digestion0.62376503
112MP0005535_abnormal_body_temperature0.62269482
113MP0010769_abnormal_survival0.62084214
114MP0000026_abnormal_inner_ear0.61855510
115MP0005623_abnormal_meninges_morphology0.61599849
116MP0002249_abnormal_larynx_morphology0.60046658
117MP0001270_distended_abdomen0.59479664
118MP0001986_abnormal_taste_sensitivity0.57167313
119MP0005195_abnormal_posterior_eye0.55632385
120MP0003137_abnormal_impulse_conducting0.54497742
121MP0003861_abnormal_nervous_system0.53516262
122MP0001485_abnormal_pinna_reflex0.53352103
123MP0005187_abnormal_penis_morphology0.52387888
124MP0010770_preweaning_lethality0.51654076

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.98704342
2Myokymia (HP:0002411)5.63609040
3Split foot (HP:0001839)5.22047299
4Visual hallucinations (HP:0002367)4.54747281
5Focal seizures (HP:0007359)4.44009039
6Progressive cerebellar ataxia (HP:0002073)4.32428955
7Hyperventilation (HP:0002883)3.93632041
8Epileptic encephalopathy (HP:0200134)3.92791311
9Febrile seizures (HP:0002373)3.88855099
10Fetal akinesia sequence (HP:0001989)3.78419286
11Atonic seizures (HP:0010819)3.71776101
12Increased circulating renin level (HP:0000848)3.51870201
13Oligodactyly (hands) (HP:0001180)3.51833159
14Action tremor (HP:0002345)3.51180605
15Anomalous pulmonary venous return (HP:0010772)3.39584769
16Hemiparesis (HP:0001269)3.35075305
17Neoplasm of the peripheral nervous system (HP:0100007)3.24983484
18Absence seizures (HP:0002121)3.23514643
19Megalencephaly (HP:0001355)3.22668052
20Hemiplegia (HP:0002301)3.21086248
21Generalized tonic-clonic seizures (HP:0002069)3.20116733
22Scanning speech (HP:0002168)3.19948696
23Ankle clonus (HP:0011448)3.18458875
24Impaired vibration sensation in the lower limbs (HP:0002166)3.16357364
25Truncal ataxia (HP:0002078)3.14832345
26Blue irides (HP:0000635)3.14745265
27Chromosomal breakage induced by crosslinking agents (HP:0003221)3.11100816
28Dysdiadochokinesis (HP:0002075)3.03702096
29Supranuclear gaze palsy (HP:0000605)3.03358061
30Absent speech (HP:0001344)2.99878572
31Diplopia (HP:0000651)2.99362606
32Abnormality of binocular vision (HP:0011514)2.99362606
33Broad-based gait (HP:0002136)2.99262252
34Amyotrophic lateral sclerosis (HP:0007354)2.99212910
35Dialeptic seizures (HP:0011146)2.96394940
36Gaze-evoked nystagmus (HP:0000640)2.96138771
37Pheochromocytoma (HP:0002666)2.95057759
38Anxiety (HP:0000739)2.90269342
39Abnormality of the pulmonary veins (HP:0011718)2.88949071
40Drooling (HP:0002307)2.86554597
41Excessive salivation (HP:0003781)2.86554597
42Progressive inability to walk (HP:0002505)2.82801107
43Congenital sensorineural hearing impairment (HP:0008527)2.81272957
44Akinesia (HP:0002304)2.80633292
45Morphological abnormality of the inner ear (HP:0011390)2.78904063
46Urinary urgency (HP:0000012)2.77724416
47Narrow nasal bridge (HP:0000446)2.73811074
48Aplasia/Hypoplasia of the sternum (HP:0006714)2.67983716
49Limb dystonia (HP:0002451)2.67731920
50Relative macrocephaly (HP:0004482)2.58660968
51Peripheral hypomyelination (HP:0007182)2.57954199
52Agitation (HP:0000713)2.57600520
53Cortical dysplasia (HP:0002539)2.56785114
54Neuroendocrine neoplasm (HP:0100634)2.56104578
55Mutism (HP:0002300)2.55940745
56Abnormal eating behavior (HP:0100738)2.51021996
57Dysmetria (HP:0001310)2.50263049
58Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.45203476
59Genetic anticipation (HP:0003743)2.43936258
60Abnormality of the corticospinal tract (HP:0002492)2.38909665
61Septo-optic dysplasia (HP:0100842)2.38261873
62Termporal pattern (HP:0011008)2.36140030
63Insidious onset (HP:0003587)2.36140030
64Neurofibrillary tangles (HP:0002185)2.35651228
65Choroideremia (HP:0001139)2.33957730
66Oligodactyly (HP:0012165)2.32619310
67Chromsome breakage (HP:0040012)2.32170587
68Ulnar claw (HP:0001178)2.28585881
69Spastic gait (HP:0002064)2.28443304
70Depression (HP:0000716)2.28224639
71Retinal dysplasia (HP:0007973)2.27052653
72Urinary bladder sphincter dysfunction (HP:0002839)2.26742039
73Sensory axonal neuropathy (HP:0003390)2.26109693
74Pendular nystagmus (HP:0012043)2.25816026
75Poor eye contact (HP:0000817)2.25030491
76Alacrima (HP:0000522)2.24680762
77Polyphagia (HP:0002591)2.23898312
78Spastic tetraplegia (HP:0002510)2.23585272
79Impaired smooth pursuit (HP:0007772)2.20604333
80Inability to walk (HP:0002540)2.17836399
81Gait ataxia (HP:0002066)2.17064338
82Specific learning disability (HP:0001328)2.16820001
83Intestinal atresia (HP:0011100)2.16657895
84Impaired social interactions (HP:0000735)2.15059861
85Abnormal social behavior (HP:0012433)2.15059861
86Generalized myoclonic seizures (HP:0002123)2.14956781
87Papilledema (HP:0001085)2.14370243
88Abnormality of the astrocytes (HP:0100707)2.12569124
89Astrocytoma (HP:0009592)2.12569124
90Abnormality of the 4th metacarpal (HP:0010012)2.11940310
91Intention tremor (HP:0002080)2.10874060
92Poor suck (HP:0002033)2.09422603
93Humeroradial synostosis (HP:0003041)2.09026679
94Synostosis involving the elbow (HP:0003938)2.09026679
95Impaired vibratory sensation (HP:0002495)2.08491266
96Neoplasm of the oral cavity (HP:0100649)2.07578849
97Hammertoe (HP:0001765)2.07506972
98Widely spaced teeth (HP:0000687)2.06002028
99Gait imbalance (HP:0002141)2.05645952
100Hypomagnesemia (HP:0002917)2.05291928
101Pachygyria (HP:0001302)2.05174604
102Congenital stationary night blindness (HP:0007642)2.03890065
103Hepatoblastoma (HP:0002884)2.03798319
104Torticollis (HP:0000473)2.02361398
105Abnormality of the diencephalon (HP:0010662)2.02041576
106Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.01971664
107Degeneration of the lateral corticospinal tracts (HP:0002314)2.01971664
108Hypoplasia of the corpus callosum (HP:0002079)2.01857600
109Vitreoretinal degeneration (HP:0000655)2.01638405
110Obstructive sleep apnea (HP:0002870)2.00975002
111EEG with generalized epileptiform discharges (HP:0011198)2.00633674
112Abnormality of ocular smooth pursuit (HP:0000617)1.99871467
113Cerebral inclusion bodies (HP:0100314)1.99799070
114Fair hair (HP:0002286)1.99539859
115Postural instability (HP:0002172)1.99533880
116Epileptiform EEG discharges (HP:0011182)1.99298259
117Lower limb muscle weakness (HP:0007340)1.99272948
118Postural tremor (HP:0002174)1.97618989
119Decreased lacrimation (HP:0000633)1.97394269
120Optic nerve hypoplasia (HP:0000609)1.97209231
121Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.97046879
122Medulloblastoma (HP:0002885)1.96800178
123Status epilepticus (HP:0002133)1.94444905
124Abnormality of the labia minora (HP:0012880)1.93353574
125Abnormality of salivation (HP:0100755)1.92904871
126Morphological abnormality of the pyramidal tract (HP:0002062)1.92520045
127Generalized hypopigmentation of hair (HP:0011358)1.90879556
128Hypsarrhythmia (HP:0002521)1.90296931
129Amblyopia (HP:0000646)1.89816913
130Myotonia (HP:0002486)1.89783665
131Metabolic alkalosis (HP:0200114)1.88844245
132Neoplasm of the heart (HP:0100544)1.88690647
133Double outlet right ventricle (HP:0001719)1.86880451
134Congenital malformation of the right heart (HP:0011723)1.86880451
135Accelerated skeletal maturation (HP:0005616)1.86207712
136Diminished movement (HP:0002374)1.85396291
137Cerebral hypomyelination (HP:0006808)1.83855704
138Epidermoid cyst (HP:0200040)1.78975488
139Abnormality of cochlea (HP:0000375)1.77983994
140Protruding tongue (HP:0010808)1.77683684
141Hypokalemic alkalosis (HP:0001949)1.77524593
142Sleep apnea (HP:0010535)1.76614117
143Gastrointestinal atresia (HP:0002589)1.73319527
144Laryngomalacia (HP:0001601)1.72295202
145Megalocornea (HP:0000485)1.71106573
146Large earlobe (HP:0009748)1.68088253
147Glioma (HP:0009733)1.67656285
148Adactyly (HP:0009776)1.66805621

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.78577075
2NTRK33.94494583
3MAP3K123.26533419
4TNIK3.15336795
5MARK12.97870496
6MAP3K42.90814897
7MAP2K72.52959606
8STK382.28080224
9NTRK22.20356459
10EPHA42.13109083
11MAP3K92.09605416
12MINK12.08631640
13MAP2K42.03574263
14MAP4K21.87348733
15PHKG11.68715964
16PHKG21.68715964
17TAOK11.63787748
18ERBB31.55993629
19NTRK11.49745496
20PNCK1.44716497
21PAK61.43660799
22STK391.42424439
23MAPK131.39683960
24DYRK21.38790288
25CSNK1A1L1.36971604
26NEK61.35308610
27PDGFRA1.32019464
28STK38L1.28770728
29FES1.25558181
30CDK191.24872741
31CSNK1G11.23238775
32BCR1.21272423
33CDK51.18887575
34GRK51.17836819
35UHMK11.16510259
36OXSR11.13431183
37MAP3K61.11443110
38WNK11.11251451
39MAPKAPK51.10015366
40DDR21.09378410
41DAPK21.08266262
42PRPF4B1.06561250
43MUSK1.05881290
44TYRO31.04124005
45RIPK41.03212772
46PRKCG1.00261994
47WNK40.98469476
48PLK20.95038694
49CAMK2A0.94749881
50CAMKK10.92296007
51SIK20.90395392
52FRK0.90351672
53SRPK10.89926769
54TNK20.87345790
55LMTK20.85075983
56CAMK40.82626030
57GRK70.82412924
58CDK180.80055574
59CSNK1G20.79603097
60CDK150.78941919
61SGK30.78707084
62ERBB40.77404935
63KSR20.76891011
64LATS20.76435559
65CDK140.76020379
66PAK30.74624063
67STK240.73178728
68CCNB10.72983217
69RET0.72846638
70PRKD30.71005964
71MKNK20.70072723
72CSNK1D0.69311467
73CAMK2B0.66508234
74SGK2230.66120406
75SGK4940.66120406
76CDK11A0.66010051
77LIMK10.64518548
78STK110.64475826
79PKN10.63462325
80RPS6KA30.61465325
81ALK0.60966240
82FGR0.60552156
83CAMK1G0.60098644
84ERBB20.58314357
85PINK10.57949287
86RAF10.56112048
87PDK20.55860071
88FGFR20.55293774
89ADRBK10.55090623
90PRKCE0.55011146
91PRKCZ0.53842598
92PDGFRB0.53631466
93KSR10.53164912
94MAP3K20.52749357
95CSNK1G30.51822215
96CAMK2D0.51411521
97EPHA30.50580245
98MAP3K10.50455496
99SGK10.50377630
100CSNK1A10.49677101
101MAPK70.48611377
102PRKCH0.47583725
103PDPK10.46880430
104CAMKK20.46310317
105RPS6KA40.45747682
106CAMK10.45741196
107PIK3CA0.45592749
108TAOK30.45238908
109CSNK1E0.44733391
110MAP3K130.44454915
111ROCK20.42202475
112MARK20.42115384
113CAMK2G0.41748118
114ADRBK20.39212683
115RPS6KB10.37742904
116PRKACA0.37652319
117MAPK120.37485451
118ARAF0.37148499
119WNK30.36821272
120SGK20.36815880
121DYRK1A0.36291204
122PRKCQ0.36134977
123AKT30.35951070
124MAPK100.35678273
125ROCK10.35506270
126PRKG10.34298482
127CDC42BPA0.34054324
128PRKD10.34005213
129PRKACG0.31801632
130FYN0.30905637
131PRKDC0.30511441
132DYRK30.28960200
133GSK3B0.25312150

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.93118146
2Synaptic vesicle cycle_Homo sapiens_hsa047213.05378936
3GABAergic synapse_Homo sapiens_hsa047272.77214392
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74568931
5Olfactory transduction_Homo sapiens_hsa047402.70919251
6Glutamatergic synapse_Homo sapiens_hsa047242.65015586
7Morphine addiction_Homo sapiens_hsa050322.57196575
8Circadian entrainment_Homo sapiens_hsa047132.37892075
9Dopaminergic synapse_Homo sapiens_hsa047282.11686276
10Phototransduction_Homo sapiens_hsa047442.08506141
11Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.07630181
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02689592
13Amphetamine addiction_Homo sapiens_hsa050311.98569378
14Salivary secretion_Homo sapiens_hsa049701.97754312
15Taste transduction_Homo sapiens_hsa047421.94896215
16Long-term potentiation_Homo sapiens_hsa047201.92122464
17Long-term depression_Homo sapiens_hsa047301.87873936
18Dorso-ventral axis formation_Homo sapiens_hsa043201.82214052
19Gastric acid secretion_Homo sapiens_hsa049711.78351124
20Serotonergic synapse_Homo sapiens_hsa047261.77157873
21Renin secretion_Homo sapiens_hsa049241.74353112
22Cholinergic synapse_Homo sapiens_hsa047251.74265128
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.71293939
24Cocaine addiction_Homo sapiens_hsa050301.70238107
25Insulin secretion_Homo sapiens_hsa049111.69673770
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57887157
27Gap junction_Homo sapiens_hsa045401.56458390
28Calcium signaling pathway_Homo sapiens_hsa040201.52496583
29Aldosterone synthesis and secretion_Homo sapiens_hsa049251.52136088
30Collecting duct acid secretion_Homo sapiens_hsa049661.51202051
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.38016049
32Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.37528532
33Oxytocin signaling pathway_Homo sapiens_hsa049211.33180195
34GnRH signaling pathway_Homo sapiens_hsa049121.30913982
35Cardiac muscle contraction_Homo sapiens_hsa042601.26910977
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25865627
37beta-Alanine metabolism_Homo sapiens_hsa004101.22417132
38Circadian rhythm_Homo sapiens_hsa047101.22356423
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.22155821
40Axon guidance_Homo sapiens_hsa043601.17612953
41Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15246615
42Glioma_Homo sapiens_hsa052141.11237727
43cAMP signaling pathway_Homo sapiens_hsa040241.09877782
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.05490574
45Vibrio cholerae infection_Homo sapiens_hsa051101.03942718
46ErbB signaling pathway_Homo sapiens_hsa040120.98085863
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.97017553
48Melanogenesis_Homo sapiens_hsa049160.93042433
49Type II diabetes mellitus_Homo sapiens_hsa049300.92804896
50Estrogen signaling pathway_Homo sapiens_hsa049150.92505877
51Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.92364785
52Nitrogen metabolism_Homo sapiens_hsa009100.90016999
53Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.88198282
54Fatty acid metabolism_Homo sapiens_hsa012120.84715356
55Dilated cardiomyopathy_Homo sapiens_hsa054140.84354053
56cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81715707
57Colorectal cancer_Homo sapiens_hsa052100.81467669
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.80167356
59Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77913934
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.76869688
61Propanoate metabolism_Homo sapiens_hsa006400.74432426
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72984817
63Thyroid hormone synthesis_Homo sapiens_hsa049180.72626797
64Notch signaling pathway_Homo sapiens_hsa043300.69140878
65Oocyte meiosis_Homo sapiens_hsa041140.68687270
66Oxidative phosphorylation_Homo sapiens_hsa001900.68236866
67MAPK signaling pathway_Homo sapiens_hsa040100.68210302
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.66076951
69Pancreatic secretion_Homo sapiens_hsa049720.65314921
70Choline metabolism in cancer_Homo sapiens_hsa052310.63974020
71Phosphatidylinositol signaling system_Homo sapiens_hsa040700.62259499
72mTOR signaling pathway_Homo sapiens_hsa041500.61649111
73Alzheimers disease_Homo sapiens_hsa050100.60924753
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60755254
75Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.60457324
76AMPK signaling pathway_Homo sapiens_hsa041520.60171386
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.59659492
78Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.59569740
79Sphingolipid metabolism_Homo sapiens_hsa006000.58205072
80Hedgehog signaling pathway_Homo sapiens_hsa043400.57429456
81Prion diseases_Homo sapiens_hsa050200.57153007
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.56859345
83Parkinsons disease_Homo sapiens_hsa050120.54949229
84Bile secretion_Homo sapiens_hsa049760.54393204
85Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.53236884
86Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.51910001
87Prolactin signaling pathway_Homo sapiens_hsa049170.51099997
88Alcoholism_Homo sapiens_hsa050340.51090869
89PPAR signaling pathway_Homo sapiens_hsa033200.50833087
90Ras signaling pathway_Homo sapiens_hsa040140.50832162
91Butanoate metabolism_Homo sapiens_hsa006500.50643405
92Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.50224366
93Renal cell carcinoma_Homo sapiens_hsa052110.50167399
94Rap1 signaling pathway_Homo sapiens_hsa040150.47987601
95ABC transporters_Homo sapiens_hsa020100.44812263
96Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.44714054
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42756196
98Histidine metabolism_Homo sapiens_hsa003400.41882828
99Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.39989578
100MicroRNAs in cancer_Homo sapiens_hsa052060.38477362
101Carbohydrate digestion and absorption_Homo sapiens_hsa049730.37378028
102Melanoma_Homo sapiens_hsa052180.37181316
103Hippo signaling pathway_Homo sapiens_hsa043900.36169426
104Glucagon signaling pathway_Homo sapiens_hsa049220.35514951
105Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33784447
106Type I diabetes mellitus_Homo sapiens_hsa049400.33474054
107Ovarian steroidogenesis_Homo sapiens_hsa049130.31234186
108Wnt signaling pathway_Homo sapiens_hsa043100.31089690
109Endocytosis_Homo sapiens_hsa041440.30819289
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.30744016
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30683186
112Tight junction_Homo sapiens_hsa045300.29688615
113Other glycan degradation_Homo sapiens_hsa005110.29626567
114Neurotrophin signaling pathway_Homo sapiens_hsa047220.29456551
115Basal cell carcinoma_Homo sapiens_hsa052170.29228944
116Ether lipid metabolism_Homo sapiens_hsa005650.29029740
117Fatty acid elongation_Homo sapiens_hsa000620.27823980
118Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.27380866
119Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.27081869
120Non-small cell lung cancer_Homo sapiens_hsa052230.26666728
121Endometrial cancer_Homo sapiens_hsa052130.26332881

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