LHFPL4

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. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.51971741
2neuron cell-cell adhesion (GO:0007158)4.97474146
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.94511503
4synaptic vesicle maturation (GO:0016188)4.92669862
5vocalization behavior (GO:0071625)4.91524290
6positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.77784153
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.75054314
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.72309932
9protein localization to synapse (GO:0035418)4.63325460
10synaptic vesicle exocytosis (GO:0016079)4.55244785
11locomotory exploration behavior (GO:0035641)4.53935128
12neuronal action potential propagation (GO:0019227)4.48944197
13regulation of synaptic vesicle exocytosis (GO:2000300)4.44969311
14pyrimidine nucleobase catabolic process (GO:0006208)4.43539277
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.41344416
16establishment of mitochondrion localization (GO:0051654)4.39803432
17regulation of glutamate receptor signaling pathway (GO:1900449)4.27557466
18glutamate secretion (GO:0014047)4.12154073
19establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.09873881
20mitochondrion transport along microtubule (GO:0047497)4.09873881
21synaptic vesicle docking involved in exocytosis (GO:0016081)4.06510368
22L-amino acid import (GO:0043092)4.01441123
23synaptic transmission, glutamatergic (GO:0035249)4.01279134
24glutamate receptor signaling pathway (GO:0007215)3.94732628
25regulation of synaptic vesicle transport (GO:1902803)3.93131807
26cerebellar granule cell differentiation (GO:0021707)3.92843874
27positive regulation of synaptic transmission, GABAergic (GO:0032230)3.85117225
28transmission of nerve impulse (GO:0019226)3.84585920
29regulation of neuronal synaptic plasticity (GO:0048168)3.82302945
30exploration behavior (GO:0035640)3.81602828
31sodium ion export (GO:0071436)3.81068665
32neuron-neuron synaptic transmission (GO:0007270)3.80303382
33nucleobase catabolic process (GO:0046113)3.75019741
34neurotransmitter secretion (GO:0007269)3.71491125
35neuron recognition (GO:0008038)3.65743379
36regulation of long-term neuronal synaptic plasticity (GO:0048169)3.64342610
37dendritic spine morphogenesis (GO:0060997)3.63710896
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.63511697
39long-term memory (GO:0007616)3.62359821
40potassium ion homeostasis (GO:0055075)3.59073620
41neuronal ion channel clustering (GO:0045161)3.57776629
42amino acid import (GO:0043090)3.51086731
43positive regulation of membrane potential (GO:0045838)3.49787330
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.47463572
45membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46161632
46postsynaptic membrane organization (GO:0001941)3.45335769
47regulation of voltage-gated calcium channel activity (GO:1901385)3.42096698
48negative regulation of synaptic transmission, GABAergic (GO:0032229)3.39885450
49regulation of synapse structural plasticity (GO:0051823)3.37755870
50presynaptic membrane assembly (GO:0097105)3.37352378
51negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.37310413
52regulation of vesicle fusion (GO:0031338)3.36816130
53layer formation in cerebral cortex (GO:0021819)3.36486262
54axonal fasciculation (GO:0007413)3.35468457
55regulation of excitatory postsynaptic membrane potential (GO:0060079)3.33293494
56cerebellar Purkinje cell layer development (GO:0021680)3.31885830
57behavioral response to cocaine (GO:0048148)3.31496521
58neurotransmitter-gated ion channel clustering (GO:0072578)3.29155851
59neurotransmitter transport (GO:0006836)3.28203233
60axon ensheathment in central nervous system (GO:0032291)3.26916266
61central nervous system myelination (GO:0022010)3.26916266
62gamma-aminobutyric acid transport (GO:0015812)3.26663694
63proline transport (GO:0015824)3.25672012
64presynaptic membrane organization (GO:0097090)3.24582823
65regulation of neurotransmitter secretion (GO:0046928)3.24302588
66regulation of postsynaptic membrane potential (GO:0060078)3.21683167
67G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.20688042
68potassium ion import (GO:0010107)3.20618034
69cerebellar Purkinje cell differentiation (GO:0021702)3.20098973
70cell migration in hindbrain (GO:0021535)3.19738206
71neurofilament cytoskeleton organization (GO:0060052)3.19623050
72gamma-aminobutyric acid signaling pathway (GO:0007214)3.19424100
73response to auditory stimulus (GO:0010996)3.18614912
74response to pheromone (GO:0019236)3.18111580
75membrane depolarization during action potential (GO:0086010)3.18061071
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.17666542
77mechanosensory behavior (GO:0007638)3.16644694
78adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.15306495
79cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14161089
80regulation of synaptic transmission, glutamatergic (GO:0051966)3.13841183
81neuronal action potential (GO:0019228)3.12297590
82positive regulation of synapse maturation (GO:0090129)3.12008583
83membrane hyperpolarization (GO:0060081)3.09118861
84positive regulation of neurotransmitter secretion (GO:0001956)3.08013950
85startle response (GO:0001964)3.07564094
86synapse assembly (GO:0007416)3.07142565
87synaptic vesicle endocytosis (GO:0048488)3.07070554
88social behavior (GO:0035176)3.06239932
89intraspecies interaction between organisms (GO:0051703)3.06239932
90regulation of synaptic plasticity (GO:0048167)3.05990547
91auditory behavior (GO:0031223)3.02985814
92regulation of neurotransmitter transport (GO:0051588)3.02972862
93regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.01689251
94neuromuscular process controlling posture (GO:0050884)3.01376550
95positive regulation of neurotransmitter transport (GO:0051590)3.01348945
96adult walking behavior (GO:0007628)3.00935069
97innervation (GO:0060384)3.00543260
98behavioral response to nicotine (GO:0035095)3.00051098
99positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.99531870
100membrane depolarization (GO:0051899)2.98856152
101regulation of neurotransmitter uptake (GO:0051580)2.98072387
102regulation of synapse maturation (GO:0090128)2.96721087
103learning (GO:0007612)2.95803411
104neuromuscular synaptic transmission (GO:0007274)2.94476199
105cell communication by electrical coupling (GO:0010644)2.93900286
106cellular sodium ion homeostasis (GO:0006883)2.93859142
107regulation of synaptic transmission, GABAergic (GO:0032228)2.93366498
108cell differentiation in hindbrain (GO:0021533)2.92582952
109dopamine receptor signaling pathway (GO:0007212)2.92506686
110neuromuscular process controlling balance (GO:0050885)2.90984515
111regulation of neurotransmitter levels (GO:0001505)2.90102527
112regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.88897511
113synaptic transmission (GO:0007268)2.88770748
114glycine transport (GO:0015816)2.87889334
115positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.85612758
116long-term synaptic potentiation (GO:0060291)2.84428385
117regulation of dendritic spine morphogenesis (GO:0061001)2.83577421
118dendrite morphogenesis (GO:0048813)2.81181170
119regulation of respiratory system process (GO:0044065)2.80352359
120cellular potassium ion homeostasis (GO:0030007)2.80180004
121prepulse inhibition (GO:0060134)2.79741409
122positive regulation of synapse assembly (GO:0051965)2.76756752
123positive regulation of dendritic spine morphogenesis (GO:0061003)2.76483750
124calcium ion-dependent exocytosis (GO:0017156)2.74804600
125regulation of synaptic transmission (GO:0050804)2.73738521
126righting reflex (GO:0060013)2.72857570
127positive regulation of dendritic spine development (GO:0060999)2.72640233
128dendritic spine organization (GO:0097061)2.71806987
129neuromuscular process (GO:0050905)2.71504254

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.03709367
2GBX2_23144817_ChIP-Seq_PC3_Human3.88552383
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.18795176
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08025481
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85804572
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.79149923
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.79064789
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73621440
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62668828
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62668828
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52762251
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.49066404
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.46051709
14CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.38915205
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37475342
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34090332
17* EZH2_27294783_Chip-Seq_ESCs_Mouse2.31801075
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27257403
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.26117801
20DROSHA_22980978_ChIP-Seq_HELA_Human2.19911586
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.18525800
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.12092540
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10051781
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.07149484
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.03768343
26RARB_27405468_Chip-Seq_BRAIN_Mouse2.01278602
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98570288
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91662456
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.89295730
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88997186
31TAF15_26573619_Chip-Seq_HEK293_Human1.83880772
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.82726077
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75535368
34VDR_22108803_ChIP-Seq_LS180_Human1.72677133
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.69252564
36CBX2_27304074_Chip-Seq_ESCs_Mouse1.68957785
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64519814
38PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.58033798
39SMAD4_21799915_ChIP-Seq_A2780_Human1.56560152
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55538498
41IGF1R_20145208_ChIP-Seq_DFB_Human1.54664395
42AR_21572438_ChIP-Seq_LNCaP_Human1.51189231
43RNF2_27304074_Chip-Seq_NSC_Mouse1.48422577
44P300_19829295_ChIP-Seq_ESCs_Human1.48345820
45ZFP281_18757296_ChIP-ChIP_E14_Mouse1.45408151
46DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39124753
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.37811208
48EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.36422162
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.36351472
50OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.35118035
51* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31931878
52* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28046551
53KDM2B_26808549_Chip-Seq_K562_Human1.27981606
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26153631
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.23966910
56FUS_26573619_Chip-Seq_HEK293_Human1.23950377
57CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22983780
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.22752210
59STAT3_23295773_ChIP-Seq_U87_Human1.21236734
60CTCF_27219007_Chip-Seq_Bcells_Human1.21135301
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.19272534
62TP53_20018659_ChIP-ChIP_R1E_Mouse1.18982504
63POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17490923
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17416440
65ZNF274_21170338_ChIP-Seq_K562_Hela1.17162423
66ZFP281_27345836_Chip-Seq_ESCs_Mouse1.16682949
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16224364
68TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.15401657
69AR_25329375_ChIP-Seq_VCAP_Human1.14923297
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.14054095
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13441455
72NANOG_18555785_Chip-Seq_ESCs_Mouse1.12817561
73SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11454689
74ER_23166858_ChIP-Seq_MCF-7_Human1.11035637
75TCF4_23295773_ChIP-Seq_U87_Human1.10219982
76SOX2_21211035_ChIP-Seq_LN229_Gbm1.09168271
77RING1B_27294783_Chip-Seq_NPCs_Mouse1.06950948
78WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06001289
79E2F1_18555785_Chip-Seq_ESCs_Mouse1.05672600
80* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04507782
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.04395139
82* RUNX2_22187159_ChIP-Seq_PCA_Human1.04359659
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03613655
84POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03613655
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03250102
86CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.01822494
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01684155
88JUN_21703547_ChIP-Seq_K562_Human1.00778958
89CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.00756929
90PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00373620
91THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00110689
92* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99913267
93EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99479064
94* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98927953
95NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98664681
96TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97596178
97SMAD_19615063_ChIP-ChIP_OVARY_Human0.97410215
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96635305
99CMYC_18555785_Chip-Seq_ESCs_Mouse0.96538288
100* TET1_21490601_ChIP-Seq_MESCs_Mouse0.96503371
101* AR_19668381_ChIP-Seq_PC3_Human0.95319204
102FLI1_27457419_Chip-Seq_LIVER_Mouse0.94867606
103TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94732474
104GATA1_26923725_Chip-Seq_HPCs_Mouse0.94349192
105P53_22387025_ChIP-Seq_ESCs_Mouse0.94025313
106ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93474371
107SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92525876
108HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.92333285
109RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91946424
110YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91523189
111PRDM14_20953172_ChIP-Seq_ESCs_Human0.91414546
112SMAD3_21741376_ChIP-Seq_ESCs_Human0.91048124
113SUZ12_18555785_Chip-Seq_ESCs_Mouse0.89767608
114RBPJ_22232070_ChIP-Seq_NCS_Mouse0.89293826
115AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88376250
116ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.88246143
117EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.87657980
118P300_18555785_Chip-Seq_ESCs_Mouse0.86657953
119NMYC_18555785_Chip-Seq_ESCs_Mouse0.85793593
120WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.85235267
121MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.84760513
122LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84187774
123FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.84020593
124EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.82629921
125SOX9_26525672_Chip-Seq_HEART_Mouse0.80751396
126STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.79459924
127E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.78206747
128OCT4_19829295_ChIP-Seq_ESCs_Human0.76610685
129POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.75924869
130* DPY_21335234_ChIP-Seq_ESCs_Mouse0.75792180
131CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.75354615

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.88847986
2MP0003880_abnormal_central_pattern4.49423755
3MP0005423_abnormal_somatic_nervous3.55924535
4MP0004270_analgesia3.49383990
5MP0003635_abnormal_synaptic_transmissio3.43731444
6MP0001968_abnormal_touch/_nociception3.20803239
7MP0009745_abnormal_behavioral_response3.00220171
8MP0002735_abnormal_chemical_nociception2.96815256
9MP0002734_abnormal_mechanical_nocicepti2.87916027
10MP0009046_muscle_twitch2.84467227
11MP0002063_abnormal_learning/memory/cond2.77730385
12MP0002064_seizures2.69794665
13MP0002736_abnormal_nociception_after2.62860694
14MP0002272_abnormal_nervous_system2.60933785
15MP0001486_abnormal_startle_reflex2.60371522
16MP0002572_abnormal_emotion/affect_behav2.53146680
17MP0006276_abnormal_autonomic_nervous2.44575687
18MP0002822_catalepsy2.23672008
19MP0002733_abnormal_thermal_nociception2.21830171
20MP0001970_abnormal_pain_threshold2.13196198
21MP0001188_hyperpigmentation2.09467935
22MP0001986_abnormal_taste_sensitivity2.04502892
23MP0002184_abnormal_innervation2.01129774
24MP0001440_abnormal_grooming_behavior1.96782119
25MP0002067_abnormal_sensory_capabilities1.94735553
26MP0000778_abnormal_nervous_system1.90288832
27MP0005645_abnormal_hypothalamus_physiol1.83156927
28MP0001501_abnormal_sleep_pattern1.82427248
29MP0001984_abnormal_olfaction1.78528061
30MP0002557_abnormal_social/conspecific_i1.74149682
31MP0005646_abnormal_pituitary_gland1.73770120
32MP0001529_abnormal_vocalization1.71786391
33MP0003123_paternal_imprinting1.71721196
34MP0000955_abnormal_spinal_cord1.61873734
35MP0004924_abnormal_behavior1.60514104
36MP0005386_behavior/neurological_phenoty1.60514104
37MP0003879_abnormal_hair_cell1.57367840
38MP0006292_abnormal_olfactory_placode1.56987253
39MP0004811_abnormal_neuron_physiology1.55276133
40MP0004858_abnormal_nervous_system1.53179994
41MP0004742_abnormal_vestibular_system1.50327473
42MP0002882_abnormal_neuron_morphology1.48171689
43MP0008569_lethality_at_weaning1.46650779
44MP0001905_abnormal_dopamine_level1.46390942
45MP0004142_abnormal_muscle_tone1.42588254
46MP0005409_darkened_coat_color1.41533070
47MP0003787_abnormal_imprinting1.39965213
48MP0002066_abnormal_motor_capabilities/c1.31165052
49MP0003329_amyloid_beta_deposits1.30109997
50MP0005551_abnormal_eye_electrophysiolog1.28887349
51MP0003121_genomic_imprinting1.28610780
52MP0001502_abnormal_circadian_rhythm1.26750492
53MP0010386_abnormal_urinary_bladder1.23532684
54MP0002909_abnormal_adrenal_gland1.21254115
55MP0004885_abnormal_endolymph1.19574543
56MP0001485_abnormal_pinna_reflex1.18350198
57MP0002229_neurodegeneration1.17243416
58MP0002638_abnormal_pupillary_reflex1.13437409
59MP0002752_abnormal_somatic_nervous1.11374755
60MP0003283_abnormal_digestive_organ1.10199072
61MP0005394_taste/olfaction_phenotype1.09997648
62MP0005499_abnormal_olfactory_system1.09997648
63MP0003690_abnormal_glial_cell1.09716504
64MP0009780_abnormal_chondrocyte_physiolo1.05028036
65MP0001963_abnormal_hearing_physiology1.04971699
66MP0002751_abnormal_autonomic_nervous1.02604201
67MP0002152_abnormal_brain_morphology1.01404071
68MP0000631_abnormal_neuroendocrine_gland1.00110609
69MP0002102_abnormal_ear_morphology1.00076609
70MP0006072_abnormal_retinal_apoptosis0.95236018
71MP0004145_abnormal_muscle_electrophysio0.92232500
72MP0003122_maternal_imprinting0.91533877
73MP0005171_absent_coat_pigmentation0.86712047
74MP0003633_abnormal_nervous_system0.86692949
75MP0000920_abnormal_myelination0.85293393
76MP0003634_abnormal_glial_cell0.84978356
77MP0003631_nervous_system_phenotype0.84795068
78MP0000026_abnormal_inner_ear0.82624978
79MP0005253_abnormal_eye_physiology0.81255496
80MP0002069_abnormal_eating/drinking_beha0.81082426
81MP0000566_synostosis0.78738598
82MP0005377_hearing/vestibular/ear_phenot0.74629022
83MP0003878_abnormal_ear_physiology0.74629022
84MP0000604_amyloidosis0.74029451
85MP0004133_heterotaxia0.72860241
86MP0002653_abnormal_ependyma_morphology0.72693985
87MP0001177_atelectasis0.71740856
88MP0002082_postnatal_lethality0.70375707
89MP0010770_preweaning_lethality0.70375707
90MP0010769_abnormal_survival0.70255618
91MP0003890_abnormal_embryonic-extraembry0.70075223
92MP0004130_abnormal_muscle_cell0.69959674
93MP0002876_abnormal_thyroid_physiology0.69805939
94MP0003632_abnormal_nervous_system0.69518861
95MP0008872_abnormal_physiological_respon0.69515131
96MP0001664_abnormal_digestion0.69324147
97MP0008877_abnormal_DNA_methylation0.68925943
98MP0009379_abnormal_foot_pigmentation0.68910411
99MP0000569_abnormal_digit_pigmentation0.68491476
100MP0003861_abnormal_nervous_system0.66689938
101MP0010768_mortality/aging0.66597578
102MP0008789_abnormal_olfactory_epithelium0.66326249
103MP0003119_abnormal_digestive_system0.66239318
104MP0003136_yellow_coat_color0.63830969
105MP0004085_abnormal_heartbeat0.63224976
106MP0003938_abnormal_ear_development0.62512476
107MP0002081_perinatal_lethality0.62255214
108MP0001943_abnormal_respiration0.61513415
109MP0005379_endocrine/exocrine_gland_phen0.61059522
110MP0000015_abnormal_ear_pigmentation0.60923956
111MP0000462_abnormal_digestive_system0.60918302
112MP0002160_abnormal_reproductive_system0.58642476
113MP0001348_abnormal_lacrimal_gland0.56190854
114MP0000579_abnormal_nail_morphology0.54712732
115MP0003137_abnormal_impulse_conducting0.54227194
116MP0001299_abnormal_eye_distance/0.53752006
117MP0003942_abnormal_urinary_system0.53412576
118MP0005535_abnormal_body_temperature0.51340466
119MP0004043_abnormal_pH_regulation0.50798450
120MP0008874_decreased_physiological_sensi0.49816499

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.34875179
2Myokymia (HP:0002411)6.03925657
3Focal seizures (HP:0007359)4.64100469
4Febrile seizures (HP:0002373)4.50113199
5Epileptic encephalopathy (HP:0200134)4.01216337
6Progressive cerebellar ataxia (HP:0002073)3.91444597
7Visual hallucinations (HP:0002367)3.76983687
8Atonic seizures (HP:0010819)3.63166352
9Action tremor (HP:0002345)3.50621337
10Absence seizures (HP:0002121)3.39950782
11Broad-based gait (HP:0002136)3.30133758
12Ankle clonus (HP:0011448)3.23499128
13Dialeptic seizures (HP:0011146)3.18168220
14Generalized tonic-clonic seizures (HP:0002069)3.17852772
15Fetal akinesia sequence (HP:0001989)3.16409841
16Supranuclear gaze palsy (HP:0000605)3.15329535
17Ulnar claw (HP:0001178)3.12236902
18Limb dystonia (HP:0002451)2.94747862
19Gaze-evoked nystagmus (HP:0000640)2.73645014
20Cerebral inclusion bodies (HP:0100314)2.67469099
21Anxiety (HP:0000739)2.55893429
22Progressive external ophthalmoplegia (HP:0000590)2.51489469
23Absent/shortened dynein arms (HP:0200106)2.50972744
24Dynein arm defect of respiratory motile cilia (HP:0012255)2.50972744
25Truncal ataxia (HP:0002078)2.47206551
26Poor eye contact (HP:0000817)2.43429926
27Dysmetria (HP:0001310)2.41806728
28Mutism (HP:0002300)2.41111744
29Abnormal eating behavior (HP:0100738)2.40732994
30Spastic gait (HP:0002064)2.36518915
31Urinary bladder sphincter dysfunction (HP:0002839)2.33785333
32Intention tremor (HP:0002080)2.31733722
33Drooling (HP:0002307)2.30379512
34Excessive salivation (HP:0003781)2.30379512
35Status epilepticus (HP:0002133)2.30249377
36Amyotrophic lateral sclerosis (HP:0007354)2.29952807
37Failure to thrive in infancy (HP:0001531)2.29713949
38Impaired vibration sensation in the lower limbs (HP:0002166)2.29147744
39Gait imbalance (HP:0002141)2.26056847
40Craniofacial dystonia (HP:0012179)2.24178785
41Spastic tetraparesis (HP:0001285)2.23580885
42Shawl scrotum (HP:0000049)2.23161007
43Absent speech (HP:0001344)2.20261187
44Dysdiadochokinesis (HP:0002075)2.18226403
45Abnormality of the corticospinal tract (HP:0002492)2.17871669
46Amblyopia (HP:0000646)2.17753276
47Polyphagia (HP:0002591)2.17135676
48Abnormal ciliary motility (HP:0012262)2.14313364
49Hemiparesis (HP:0001269)2.12573200
50Hemiplegia (HP:0002301)2.12200173
51Poor suck (HP:0002033)2.11787174
52Progressive inability to walk (HP:0002505)2.11589494
53Morphological abnormality of the pyramidal tract (HP:0002062)2.09718059
54Congenital stationary night blindness (HP:0007642)2.08013832
55Epileptiform EEG discharges (HP:0011182)2.07238613
56Hyperventilation (HP:0002883)2.07031500
57Annular pancreas (HP:0001734)2.06003061
58Turricephaly (HP:0000262)2.02004850
59Pheochromocytoma (HP:0002666)2.01997294
60Depression (HP:0000716)2.01028853
61EEG with generalized epileptiform discharges (HP:0011198)2.00972684
62Septo-optic dysplasia (HP:0100842)2.00384292
63Spastic tetraplegia (HP:0002510)1.96798810
64Retinal dysplasia (HP:0007973)1.96646131
65Apathy (HP:0000741)1.96503013
66Impaired social interactions (HP:0000735)1.95345358
67Abnormal social behavior (HP:0012433)1.95345358
68Abnormality of calcium-phosphate metabolism (HP:0100530)1.95229569
69Akinesia (HP:0002304)1.95149779
70CNS hypomyelination (HP:0003429)1.94946087
71Scanning speech (HP:0002168)1.91408348
72Medial flaring of the eyebrow (HP:0010747)1.91306307
73Inability to walk (HP:0002540)1.90709665
74Agitation (HP:0000713)1.89792837
75Abnormal respiratory motile cilium morphology (HP:0005938)1.89295634
76Abnormal respiratory epithelium morphology (HP:0012253)1.89295634
77Insomnia (HP:0100785)1.89287706
78Hypoplastic nipples (HP:0002557)1.88912517
79Delusions (HP:0000746)1.88680614
80Hypsarrhythmia (HP:0002521)1.88630665
81Obstructive sleep apnea (HP:0002870)1.88110100
82Abnormal hair whorl (HP:0010721)1.87844323
83Split foot (HP:0001839)1.87833085
84Abnormality of the labia minora (HP:0012880)1.87206255
85Postural instability (HP:0002172)1.87175995
86Cerebral hypomyelination (HP:0006808)1.86534401
87Neuronal loss in central nervous system (HP:0002529)1.85934477
88Urinary urgency (HP:0000012)1.84440658
89Esotropia (HP:0000565)1.84217629
90Hypoplasia of the corpus callosum (HP:0002079)1.84180560
91Congenital primary aphakia (HP:0007707)1.83378987
92Diminished motivation (HP:0000745)1.82916471
93Sleep apnea (HP:0010535)1.81788909
94Stereotypic behavior (HP:0000733)1.81692152
95Genetic anticipation (HP:0003743)1.81633657
96Pachygyria (HP:0001302)1.81230221
97Insidious onset (HP:0003587)1.80878248
98Termporal pattern (HP:0011008)1.80878248
99Genital tract atresia (HP:0001827)1.79502740
100Lissencephaly (HP:0001339)1.79234419
101Abnormality of binocular vision (HP:0011514)1.78664119
102Diplopia (HP:0000651)1.78664119
103Torticollis (HP:0000473)1.78564174
104Peripheral hypomyelination (HP:0007182)1.78352979
105Neurofibrillary tangles (HP:0002185)1.77688781
106Nephrogenic diabetes insipidus (HP:0009806)1.77223129
107Parakeratosis (HP:0001036)1.76658969
108Lower limb muscle weakness (HP:0007340)1.76593738
109Papilledema (HP:0001085)1.76010574
110Neuroendocrine neoplasm (HP:0100634)1.75398439
111Abnormal respiratory motile cilium physiology (HP:0012261)1.74833400
112Specific learning disability (HP:0001328)1.74423207
113Megalencephaly (HP:0001355)1.74047902
114Steppage gait (HP:0003376)1.74010133
115Impaired smooth pursuit (HP:0007772)1.73562857
116Vaginal atresia (HP:0000148)1.73509789
117Decreased central vision (HP:0007663)1.73153421
118Hepatoblastoma (HP:0002884)1.72380255
119Bradykinesia (HP:0002067)1.71738686
120Abnormality of salivation (HP:0100755)1.71316146
121Ventricular fibrillation (HP:0001663)1.70340751
122Focal dystonia (HP:0004373)1.70321009
123Tetraplegia (HP:0002445)1.70219960
124Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.70176931
125Oligodactyly (hands) (HP:0001180)1.70078295
126Muscular hypotonia of the trunk (HP:0008936)1.68998798
127Prolonged QT interval (HP:0001657)1.68546863
128Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.68305959
129Protruding tongue (HP:0010808)1.68256008
130Decreased motor nerve conduction velocity (HP:0003431)1.65929374
131Incomplete penetrance (HP:0003829)1.65165714
132Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.64941394

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK15.16971344
2NTRK34.41836585
3EPHA43.30736536
4MAP3K92.68399352
5CASK2.68259854
6MAP2K72.61225832
7TNIK2.55156110
8MINK12.46554036
9MAP3K42.36082373
10PNCK2.31692738
11MAPK131.91253845
12NTRK21.79228117
13IRAK21.70013931
14PAK61.59628310
15SIK21.58680842
16NTRK11.54557516
17DAPK21.53056636
18TYRO31.49494081
19IRAK31.48883529
20MAP3K121.46238720
21STK161.34225935
22PLK21.31427283
23PRPF4B1.30563610
24GRK51.29154922
25CDK51.28923197
26RIPK41.28208896
27LATS21.26237441
28PLK41.21151502
29MAP2K41.18644747
30PRKCG1.14821906
31ZAK1.14791677
32ARAF1.13700269
33PRKD31.13031366
34UHMK11.11931451
35NEK61.06839540
36PHKG11.06453339
37PHKG21.06453339
38PINK11.05168943
39KSR21.04894841
40STK381.04563988
41FES0.99720365
42CAMK2B0.98574363
43NME10.98371951
44PRKCH0.97549468
45SIK30.97401799
46CAMK2A0.94045415
47BMPR20.93979846
48KSR10.92522444
49SGK4940.92268889
50SGK2230.92268889
51CDC42BPA0.91613446
52DYRK20.91303054
53MAP3K20.90742524
54CAMK1G0.88445728
55MAPK120.85800155
56CAMKK10.80605918
57TAOK20.79373618
58AKT30.79096680
59IRAK10.77074365
60MARK20.75989519
61DAPK10.75980859
62TNK20.75652351
63BMPR1B0.75350760
64ADRBK20.75133014
65SGK30.75120012
66FGFR20.74706732
67OXSR10.73526977
68DYRK1A0.73253606
69CDK190.72994994
70CAMK1D0.72555073
71LMTK20.72403260
72CAMK2D0.70179593
73CSNK1G20.69701000
74CAMK10.69237945
75CDK140.68884552
76BRAF0.68627428
77PRKCE0.67412255
78STK390.67243479
79CDK180.65819583
80PKN10.64744997
81CDK150.63773601
82CAMK2G0.62737469
83CAMKK20.62082427
84GRK70.62042217
85SGK20.62011050
86ALK0.58739611
87WNK10.58443041
88CDK11A0.56473777
89STK110.53063949
90LIMK10.52147143
91CSNK1D0.50292115
92BCR0.49294564
93CAMK40.49072167
94PRKCZ0.48271836
95RIPK10.47800072
96CSNK1G10.47115668
97SGK10.45497179
98RPS6KA30.45113774
99RPS6KA20.43971190
100PLK30.43771979
101PAK30.43476390
102BUB10.42916256
103CDK30.42274055
104ROCK20.41860280
105MAPK100.41176564
106PRKAA10.40857045
107IRAK40.40816602
108CSNK1G30.40620013
109MUSK0.40124613
110CSNK1A1L0.39823906
111INSRR0.39757534
112CSNK1E0.38995443
113SRPK10.38757169
114MAPKAPK50.38577128
115PRKG10.38241161
116WNK30.36988320
117PRKCI0.36318264
118PRKACA0.34503575
119BRSK10.34259161
120ERBB20.34253189
121MAP3K130.32876284
122CSNK1A10.32669512
123ABL20.31564277
124GSK3B0.30653051
125PRKDC0.28253940
126MAP4K20.27833649
127FYN0.26985456
128MAPK80.26562056
129PRKCA0.26345197
130DAPK30.25400498

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.08341057
2Synaptic vesicle cycle_Homo sapiens_hsa047213.47786753
3Olfactory transduction_Homo sapiens_hsa047402.79481174
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75328917
5GABAergic synapse_Homo sapiens_hsa047272.74156806
6Morphine addiction_Homo sapiens_hsa050322.63424024
7Glutamatergic synapse_Homo sapiens_hsa047242.60145652
8Circadian entrainment_Homo sapiens_hsa047132.58039622
9Amphetamine addiction_Homo sapiens_hsa050312.28402792
10Long-term potentiation_Homo sapiens_hsa047202.25473624
11Taste transduction_Homo sapiens_hsa047422.25397307
12Dopaminergic synapse_Homo sapiens_hsa047282.10196565
13Phototransduction_Homo sapiens_hsa047442.09535627
14Insulin secretion_Homo sapiens_hsa049112.07652448
15Serotonergic synapse_Homo sapiens_hsa047262.06806365
16Cholinergic synapse_Homo sapiens_hsa047251.95715221
17Salivary secretion_Homo sapiens_hsa049701.92896492
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.90665660
19Collecting duct acid secretion_Homo sapiens_hsa049661.76474840
20Cocaine addiction_Homo sapiens_hsa050301.70478091
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.66641845
22Long-term depression_Homo sapiens_hsa047301.63276921
23Gastric acid secretion_Homo sapiens_hsa049711.62339473
24Calcium signaling pathway_Homo sapiens_hsa040201.60937983
25Axon guidance_Homo sapiens_hsa043601.50191802
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.47193824
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46714875
28Oxytocin signaling pathway_Homo sapiens_hsa049211.42034784
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40235649
30Renin secretion_Homo sapiens_hsa049241.37078880
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29366888
32Gap junction_Homo sapiens_hsa045401.28015594
33GnRH signaling pathway_Homo sapiens_hsa049121.23136401
34Cardiac muscle contraction_Homo sapiens_hsa042601.22825445
35Vitamin B6 metabolism_Homo sapiens_hsa007501.20226650
36Oxidative phosphorylation_Homo sapiens_hsa001901.18848199
37SNARE interactions in vesicular transport_Homo sapiens_hsa041301.15888084
38cAMP signaling pathway_Homo sapiens_hsa040241.12901032
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11384113
40Type II diabetes mellitus_Homo sapiens_hsa049301.09868636
41Vibrio cholerae infection_Homo sapiens_hsa051101.09774998
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07973807
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06245082
44Alzheimers disease_Homo sapiens_hsa050100.97727893
45Oocyte meiosis_Homo sapiens_hsa041140.95414022
46Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.95340093
47Parkinsons disease_Homo sapiens_hsa050120.95254145
48ErbB signaling pathway_Homo sapiens_hsa040120.94162815
49Melanogenesis_Homo sapiens_hsa049160.94033237
50Bile secretion_Homo sapiens_hsa049760.93402775
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.91451254
52Estrogen signaling pathway_Homo sapiens_hsa049150.84309671
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84292200
54Huntingtons disease_Homo sapiens_hsa050160.84265354
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.84128134
56Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.80633977
57Pancreatic secretion_Homo sapiens_hsa049720.79500901
58cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75591179
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.75404643
60Glioma_Homo sapiens_hsa052140.73875789
61Ras signaling pathway_Homo sapiens_hsa040140.71501408
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.68902301
63Type I diabetes mellitus_Homo sapiens_hsa049400.68649369
64Alcoholism_Homo sapiens_hsa050340.67650485
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.67319434
66Choline metabolism in cancer_Homo sapiens_hsa052310.66024239
67MAPK signaling pathway_Homo sapiens_hsa040100.63935765
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62500146
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.59328989
70Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.59220815
71Dorso-ventral axis formation_Homo sapiens_hsa043200.55937590
72Endometrial cancer_Homo sapiens_hsa052130.55327666
73Hippo signaling pathway_Homo sapiens_hsa043900.54911787
74Circadian rhythm_Homo sapiens_hsa047100.54571097
75Wnt signaling pathway_Homo sapiens_hsa043100.53174639
76Sphingolipid metabolism_Homo sapiens_hsa006000.52056854
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52033367
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51990281
79Ether lipid metabolism_Homo sapiens_hsa005650.50504434
80Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50163045
81Glucagon signaling pathway_Homo sapiens_hsa049220.49487028
82Regulation of autophagy_Homo sapiens_hsa041400.49186914
83Thyroid hormone synthesis_Homo sapiens_hsa049180.47942260
84Rap1 signaling pathway_Homo sapiens_hsa040150.46182769
85RNA polymerase_Homo sapiens_hsa030200.43241037
86Ovarian steroidogenesis_Homo sapiens_hsa049130.42377820
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42070655
88Hedgehog signaling pathway_Homo sapiens_hsa043400.42067947
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42064929
90Inositol phosphate metabolism_Homo sapiens_hsa005620.41683088
91Neurotrophin signaling pathway_Homo sapiens_hsa047220.41612010
92Melanoma_Homo sapiens_hsa052180.40229139
93Rheumatoid arthritis_Homo sapiens_hsa053230.39624159
94Dilated cardiomyopathy_Homo sapiens_hsa054140.39509970
95Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38491528
96Prion diseases_Homo sapiens_hsa050200.36627326
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.36574784
98Carbohydrate digestion and absorption_Homo sapiens_hsa049730.36458015
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.35664647
100Colorectal cancer_Homo sapiens_hsa052100.34774209
101Tight junction_Homo sapiens_hsa045300.34527746
102Endocytosis_Homo sapiens_hsa041440.34081692
103Mineral absorption_Homo sapiens_hsa049780.33652671
104Renal cell carcinoma_Homo sapiens_hsa052110.33299455
105AMPK signaling pathway_Homo sapiens_hsa041520.31682835
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30374669
107Insulin signaling pathway_Homo sapiens_hsa049100.28891183
108Purine metabolism_Homo sapiens_hsa002300.28796316
109Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.27671827
110Basal cell carcinoma_Homo sapiens_hsa052170.27557141
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.27455430
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27089639
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.26380988
114Fanconi anemia pathway_Homo sapiens_hsa034600.25308102
115Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25227679
116VEGF signaling pathway_Homo sapiens_hsa043700.24800534

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