KIF1A

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





Description: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.42981958
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.36885943
3locomotory exploration behavior (GO:0035641)5.95875996
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.77448228
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.58321005
6vocalization behavior (GO:0071625)5.47287871
7synaptic vesicle exocytosis (GO:0016079)5.31934341
8glutamate secretion (GO:0014047)5.27575756
9regulation of synaptic vesicle exocytosis (GO:2000300)5.12832671
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.06406460
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.87850636
12layer formation in cerebral cortex (GO:0021819)4.83156096
13protein localization to synapse (GO:0035418)4.75601657
14regulation of glutamate receptor signaling pathway (GO:1900449)4.73738638
15neuron cell-cell adhesion (GO:0007158)4.65074112
16exploration behavior (GO:0035640)4.65019832
17neurotransmitter secretion (GO:0007269)4.54500012
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.52662412
19regulation of synaptic vesicle transport (GO:1902803)4.51704070
20gamma-aminobutyric acid transport (GO:0015812)4.43905587
21regulation of neuronal synaptic plasticity (GO:0048168)4.37744466
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.36950116
23regulation of synapse structural plasticity (GO:0051823)4.36342882
24amino acid import (GO:0043090)4.35133931
25dendritic spine morphogenesis (GO:0060997)4.25629989
26proline transport (GO:0015824)4.25208691
27neuronal action potential propagation (GO:0019227)4.21907993
28axon ensheathment in central nervous system (GO:0032291)4.13039299
29central nervous system myelination (GO:0022010)4.13039299
30cellular potassium ion homeostasis (GO:0030007)4.07007543
31synaptic transmission, glutamatergic (GO:0035249)4.05458420
32presynaptic membrane organization (GO:0097090)3.99373969
33potassium ion homeostasis (GO:0055075)3.97647376
34neurotransmitter-gated ion channel clustering (GO:0072578)3.97193093
35glutamate receptor signaling pathway (GO:0007215)3.96192503
36sodium ion export (GO:0071436)3.93055696
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.84006936
38neuron-neuron synaptic transmission (GO:0007270)3.78387215
39long-term memory (GO:0007616)3.77395802
40positive regulation of membrane potential (GO:0045838)3.75915107
41potassium ion import (GO:0010107)3.75405038
42activation of protein kinase A activity (GO:0034199)3.69369500
43neurotransmitter transport (GO:0006836)3.69224852
44dendrite morphogenesis (GO:0048813)3.68737151
45membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67610664
46neuron recognition (GO:0008038)3.62178630
47positive regulation of dendritic spine morphogenesis (GO:0061003)3.61918570
48neuromuscular process controlling balance (GO:0050885)3.61040141
49establishment of mitochondrion localization (GO:0051654)3.57680936
50glycine transport (GO:0015816)3.57184207
51regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.56193484
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.56086646
53transmission of nerve impulse (GO:0019226)3.54930704
54regulation of synapse maturation (GO:0090128)3.54641779
55positive regulation of synapse maturation (GO:0090129)3.51280778
56auditory behavior (GO:0031223)3.48468830
57postsynaptic membrane organization (GO:0001941)3.46322851
58positive regulation of synaptic transmission, GABAergic (GO:0032230)3.45327834
59cellular sodium ion homeostasis (GO:0006883)3.43982249
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43716829
61negative regulation of dendrite morphogenesis (GO:0050774)3.43571904
62regulation of postsynaptic membrane potential (GO:0060078)3.42751706
63cerebellar Purkinje cell differentiation (GO:0021702)3.41701674
64positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40129490
65regulation of dendritic spine morphogenesis (GO:0061001)3.39981213
66regulation of neurotransmitter secretion (GO:0046928)3.39413403
67regulation of synaptic plasticity (GO:0048167)3.39258759
68regulation of neurotransmitter levels (GO:0001505)3.38517184
69synaptic vesicle endocytosis (GO:0048488)3.38140898
70axonal fasciculation (GO:0007413)3.37568383
71response to auditory stimulus (GO:0010996)3.37269203
72positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.33237568
73cell communication by electrical coupling (GO:0010644)3.32753478
74regulation of voltage-gated calcium channel activity (GO:1901385)3.32206225
75neuromuscular synaptic transmission (GO:0007274)3.31340723
76neuromuscular process controlling posture (GO:0050884)3.29913371
77acidic amino acid transport (GO:0015800)3.23808443
78vesicle transport along microtubule (GO:0047496)3.23526175
79prepulse inhibition (GO:0060134)3.22404944
80cell migration in hindbrain (GO:0021535)3.21795376
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.19855011
82regulation of vesicle fusion (GO:0031338)3.18942865
83neurotransmitter uptake (GO:0001504)3.18221143
84cytoskeletal anchoring at plasma membrane (GO:0007016)3.18072387
85neuronal ion channel clustering (GO:0045161)3.17883240
86regulation of ARF protein signal transduction (GO:0032012)3.15406220
87membrane depolarization during action potential (GO:0086010)3.14827536
88gamma-aminobutyric acid signaling pathway (GO:0007214)3.14352523
89cell differentiation in hindbrain (GO:0021533)3.12817011
90regulation of neurotransmitter transport (GO:0051588)3.12424732
91organelle transport along microtubule (GO:0072384)3.11828038
92synapse assembly (GO:0007416)3.10516312
93long-term synaptic potentiation (GO:0060291)3.08630722
94regulation of synaptic transmission (GO:0050804)3.08299156
95membrane hyperpolarization (GO:0060081)3.07509658
96regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.05803106
97establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.04896065
98mitochondrion transport along microtubule (GO:0047497)3.04896065
99innervation (GO:0060384)3.02544477
100establishment of synaptic vesicle localization (GO:0097480)3.01973642
101membrane depolarization (GO:0051899)3.01468282
102positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00358561
103negative regulation of synaptic transmission, GABAergic (GO:0032229)2.99340194
104neuromuscular process (GO:0050905)2.99288262
105positive regulation of dendritic spine development (GO:0060999)2.98736117
106learning (GO:0007612)2.97998930
107social behavior (GO:0035176)2.97668736
108intraspecies interaction between organisms (GO:0051703)2.97668736
109positive regulation of neurotransmitter secretion (GO:0001956)2.96172994
110positive regulation of neurotransmitter transport (GO:0051590)2.95127191
111presynaptic membrane assembly (GO:0097105)2.95099874
112G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.94632834
113cerebellar Purkinje cell layer development (GO:0021680)2.92985731
114dendritic spine organization (GO:0097061)2.92184848
115L-amino acid import (GO:0043092)2.91737292
116mating behavior (GO:0007617)2.90835378
117synapse organization (GO:0050808)2.90594304
118cerebellar granule cell differentiation (GO:0021707)2.90574012
119regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.90176232
120regulation of dendritic spine development (GO:0060998)2.89912808
121adult walking behavior (GO:0007628)2.89356676

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.86649368
2GBX2_23144817_ChIP-Seq_PC3_Human3.27083019
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.04429879
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99595618
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99129951
6REST_21632747_ChIP-Seq_MESCs_Mouse2.80581538
7DROSHA_22980978_ChIP-Seq_HELA_Human2.73044454
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.66659517
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.66659517
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.63071656
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56668707
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54982984
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52572332
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.46669252
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.41471478
16* EZH2_27304074_Chip-Seq_ESCs_Mouse2.40584823
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36821910
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.31844536
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.27369324
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.25430880
21CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.18528251
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.17424177
23* RNF2_27304074_Chip-Seq_ESCs_Mouse2.15498656
24* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.12522173
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12020626
26* EED_16625203_ChIP-ChIP_MESCs_Mouse2.09978228
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.09776973
28IKZF1_21737484_ChIP-ChIP_HCT116_Human2.00270563
29AR_21572438_ChIP-Seq_LNCaP_Human1.92512624
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.92424357
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.89791435
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.62815713
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62348494
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57155197
35SMAD4_21799915_ChIP-Seq_A2780_Human1.53175021
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43557347
37ZNF274_21170338_ChIP-Seq_K562_Hela1.40005628
38* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36123478
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34627778
40* RING1B_27294783_Chip-Seq_ESCs_Mouse1.33939439
41DNAJC2_21179169_ChIP-ChIP_NT2_Human1.33657484
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.33181333
43TAF15_26573619_Chip-Seq_HEK293_Human1.32010981
44GATA1_26923725_Chip-Seq_HPCs_Mouse1.30939018
45KDM2B_26808549_Chip-Seq_K562_Human1.28323440
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27729047
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27438324
48AR_19668381_ChIP-Seq_PC3_Human1.26069367
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24534897
50ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.22873747
51STAT3_23295773_ChIP-Seq_U87_Human1.20975791
52* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19897510
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.19258152
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18510293
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.17420765
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17393197
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.17031010
58* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.15484268
59* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.15117115
60* RING1B_27294783_Chip-Seq_NPCs_Mouse1.13531322
61AR_25329375_ChIP-Seq_VCAP_Human1.13305597
62P300_19829295_ChIP-Seq_ESCs_Human1.11665948
63OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10776703
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10670306
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09776107
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09269299
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08971841
68ZFP57_27257070_Chip-Seq_ESCs_Mouse1.08293388
69YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06653744
70* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.06590390
71TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05373133
72TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.05299407
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.04042316
74TCF4_23295773_ChIP-Seq_U87_Human1.03612483
75AHR_22903824_ChIP-Seq_MCF-7_Human1.03058202
76CBX2_27304074_Chip-Seq_ESCs_Mouse1.03014504
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01887811
78GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01638917
79IGF1R_20145208_ChIP-Seq_DFB_Human1.01186669
80* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01007386
81PIAS1_25552417_ChIP-Seq_VCAP_Human0.99433912
82VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99201677
83SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98400129
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98051280
85SMAD4_21741376_ChIP-Seq_HESCs_Human0.97981687
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.97902580
87ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97766542
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.96461982
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95871623
90TET1_21490601_ChIP-Seq_MESCs_Mouse0.92886839
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92537378
92RNF2_27304074_Chip-Seq_NSC_Mouse0.91372188
93TP53_20018659_ChIP-ChIP_R1E_Mouse0.90584727
94DPY_21335234_ChIP-Seq_ESCs_Mouse0.90121780
95SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.89642037
96SMAD3_21741376_ChIP-Seq_HESCs_Human0.89466928
97* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89342756
98KDM2B_26808549_Chip-Seq_SUP-B15_Human0.88834023
99CTCF_27219007_Chip-Seq_Bcells_Human0.88719750
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88341912
101TP53_16413492_ChIP-PET_HCT116_Human0.88200249
102SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.87997046
103RUNX2_22187159_ChIP-Seq_PCA_Human0.87335365
104BMI1_23680149_ChIP-Seq_NPCS_Mouse0.87199610
105TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86538488
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.86473397
107OCT4_19829295_ChIP-Seq_ESCs_Human0.86024113
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.85521135
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85521135
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84727602
111RUNX1_26923725_Chip-Seq_HPCs_Mouse0.84702397
112SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.84147353
113GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83657960
114CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83013599
115OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.82896623
116SOX9_26525672_Chip-Seq_HEART_Mouse0.80833256
117LXR_22292898_ChIP-Seq_THP-1_Human0.80403266
118SMC4_20622854_ChIP-Seq_HELA_Human0.79150086
119ISL1_27105846_Chip-Seq_CPCs_Mouse0.78170272
120LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77431936
121TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76012146
122CREB1_26743006_Chip-Seq_LNCaP_Human0.74290814
123KLF4_19829295_ChIP-Seq_ESCs_Human0.73269922
124POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.72194475

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.63433024
2MP0003880_abnormal_central_pattern4.47190546
3MP0003635_abnormal_synaptic_transmissio4.20900287
4* MP0004270_analgesia3.42550938
5MP0009745_abnormal_behavioral_response3.34889723
6MP0005423_abnormal_somatic_nervous3.32263656
7MP0002063_abnormal_learning/memory/cond3.30605563
8MP0009046_muscle_twitch3.18923823
9MP0002064_seizures3.15526877
10MP0001968_abnormal_touch/_nociception3.03847491
11MP0002572_abnormal_emotion/affect_behav2.72837870
12* MP0002734_abnormal_mechanical_nocicepti2.71970070
13MP0001486_abnormal_startle_reflex2.60398940
14MP0002272_abnormal_nervous_system2.57777491
15MP0002822_catalepsy2.44387713
16MP0002735_abnormal_chemical_nociception2.26907509
17MP0009780_abnormal_chondrocyte_physiolo2.26434899
18MP0002733_abnormal_thermal_nociception2.25129890
19MP0002736_abnormal_nociception_after2.18631119
20MP0001501_abnormal_sleep_pattern2.14900528
21MP0003329_amyloid_beta_deposits2.13250148
22MP0001440_abnormal_grooming_behavior2.07702767
23MP0004858_abnormal_nervous_system2.05993959
24MP0000778_abnormal_nervous_system2.00433450
25MP0008569_lethality_at_weaning1.99402600
26* MP0001970_abnormal_pain_threshold1.98600876
27MP0002067_abnormal_sensory_capabilities1.96307454
28MP0002184_abnormal_innervation1.87743114
29* MP0004811_abnormal_neuron_physiology1.87101237
30MP0002909_abnormal_adrenal_gland1.86488995
31MP0002557_abnormal_social/conspecific_i1.78945345
32MP0005386_behavior/neurological_phenoty1.77769007
33MP0004924_abnormal_behavior1.77769007
34MP0004885_abnormal_endolymph1.75316451
35MP0000955_abnormal_spinal_cord1.74209319
36MP0006276_abnormal_autonomic_nervous1.57190712
37MP0005646_abnormal_pituitary_gland1.53516808
38MP0003123_paternal_imprinting1.52787571
39MP0003879_abnormal_hair_cell1.52216404
40* MP0002882_abnormal_neuron_morphology1.51351919
41* MP0002066_abnormal_motor_capabilities/c1.47064261
42MP0001984_abnormal_olfaction1.44738037
43MP0005645_abnormal_hypothalamus_physiol1.40834926
44MP0003787_abnormal_imprinting1.39824618
45MP0000569_abnormal_digit_pigmentation1.33500061
46* MP0003633_abnormal_nervous_system1.31714634
47MP0004142_abnormal_muscle_tone1.24825128
48MP0001502_abnormal_circadian_rhythm1.23993858
49MP0002152_abnormal_brain_morphology1.18962961
50MP0003283_abnormal_digestive_organ1.17231544
51* MP0003631_nervous_system_phenotype1.15958715
52MP0003122_maternal_imprinting1.14439467
53MP0001905_abnormal_dopamine_level1.13542605
54MP0000920_abnormal_myelination1.11807898
55MP0003690_abnormal_glial_cell1.10179743
56MP0003634_abnormal_glial_cell1.09316435
57MP0001529_abnormal_vocalization1.08308973
58* MP0002229_neurodegeneration1.06305018
59MP0003121_genomic_imprinting1.04890476
60MP0005551_abnormal_eye_electrophysiolog0.99742855
61MP0003632_abnormal_nervous_system0.97652098
62MP0001177_atelectasis0.96899924
63MP0000604_amyloidosis0.96748017
64MP0004145_abnormal_muscle_electrophysio0.95946749
65MP0008961_abnormal_basal_metabolism0.95424403
66MP0002069_abnormal_eating/drinking_beha0.93789132
67MP0000751_myopathy0.93713451
68MP0008872_abnormal_physiological_respon0.92934057
69MP0004742_abnormal_vestibular_system0.90477446
70MP0000013_abnormal_adipose_tissue0.89604361
71MP0008877_abnormal_DNA_methylation0.86900863
72MP0001346_abnormal_lacrimal_gland0.84895434
73MP0008874_decreased_physiological_sensi0.84452115
74MP0001299_abnormal_eye_distance/0.81664357
75MP0003172_abnormal_lysosome_physiology0.81516900
76MP0005394_taste/olfaction_phenotype0.81433472
77MP0005499_abnormal_olfactory_system0.81433472
78MP0002752_abnormal_somatic_nervous0.79994278
79MP0004085_abnormal_heartbeat0.79891206
80MP0002090_abnormal_vision0.79685049
81MP0003075_altered_response_to0.79044439
82MP0000631_abnormal_neuroendocrine_gland0.78764137
83MP0000566_synostosis0.77877737
84MP0000579_abnormal_nail_morphology0.77308098
85MP0001348_abnormal_lacrimal_gland0.76687904
86MP0001963_abnormal_hearing_physiology0.76397372
87MP0005535_abnormal_body_temperature0.75580357
88MP0001188_hyperpigmentation0.75273467
89MP0010386_abnormal_urinary_bladder0.74396587
90MP0005623_abnormal_meninges_morphology0.71206027
91MP0003137_abnormal_impulse_conducting0.69656834
92MP0004233_abnormal_muscle_weight0.68162378
93* MP0010768_mortality/aging0.65148806
94MP0003861_abnormal_nervous_system0.65109863
95MP0003938_abnormal_ear_development0.65076917
96MP0001485_abnormal_pinna_reflex0.63591589
97MP0005187_abnormal_penis_morphology0.63099101
98MP0000026_abnormal_inner_ear0.62793073
99MP0002249_abnormal_larynx_morphology0.61931407
100MP0002638_abnormal_pupillary_reflex0.59846308
101MP0004043_abnormal_pH_regulation0.58846823
102MP0002653_abnormal_ependyma_morphology0.58749406
103MP0005167_abnormal_blood-brain_barrier0.58183135
104MP0001943_abnormal_respiration0.57370509
105MP0004147_increased_porphyrin_level0.57233570
106* MP0010769_abnormal_survival0.57078484
107MP0004215_abnormal_myocardial_fiber0.56559322
108MP0003119_abnormal_digestive_system0.55620677
109MP0005409_darkened_coat_color0.55536164
110* MP0010770_preweaning_lethality0.54801318
111* MP0002082_postnatal_lethality0.54801318
112* MP0002081_perinatal_lethality0.54646629
113MP0006072_abnormal_retinal_apoptosis0.54334075
114MP0000747_muscle_weakness0.53750247
115MP0004133_heterotaxia0.53243366
116MP0003956_abnormal_body_size0.52898562

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.74077182
2Focal motor seizures (HP:0011153)6.54157958
3Focal seizures (HP:0007359)5.40418962
4Visual hallucinations (HP:0002367)5.18745200
5Epileptic encephalopathy (HP:0200134)4.43704812
6Supranuclear gaze palsy (HP:0000605)4.33791960
7Action tremor (HP:0002345)4.29903644
8Progressive cerebellar ataxia (HP:0002073)4.28334700
9Atonic seizures (HP:0010819)3.92956483
10Mutism (HP:0002300)3.79990259
11Febrile seizures (HP:0002373)3.75382035
12Absence seizures (HP:0002121)3.75256413
13Papilledema (HP:0001085)3.59579479
14Generalized tonic-clonic seizures (HP:0002069)3.58755481
15Dialeptic seizures (HP:0011146)3.40972036
16Poor eye contact (HP:0000817)3.39914875
17Broad-based gait (HP:0002136)3.36144872
18Depression (HP:0000716)3.31079225
19Impaired vibration sensation in the lower limbs (HP:0002166)3.23709313
20Postural instability (HP:0002172)3.18764531
21Neurofibrillary tangles (HP:0002185)3.18027499
22Impaired social interactions (HP:0000735)3.12020875
23Abnormal social behavior (HP:0012433)3.12020875
24Dysdiadochokinesis (HP:0002075)3.11134631
25Gaze-evoked nystagmus (HP:0000640)3.11066807
26Abnormality of the corticospinal tract (HP:0002492)3.03539919
27Genetic anticipation (HP:0003743)3.03245081
28Truncal ataxia (HP:0002078)3.00742826
29* Ankle clonus (HP:0011448)3.00162094
30Urinary urgency (HP:0000012)2.96012125
31Abnormal eating behavior (HP:0100738)2.95335135
32Cerebral inclusion bodies (HP:0100314)2.94094826
33Insidious onset (HP:0003587)2.93610311
34Termporal pattern (HP:0011008)2.93610311
35Tetraplegia (HP:0002445)2.92277774
36Anxiety (HP:0000739)2.90652976
37Cerebral hypomyelination (HP:0006808)2.82781019
38Abnormality of the lower motor neuron (HP:0002366)2.82363380
39Torticollis (HP:0000473)2.82134200
40Sleep apnea (HP:0010535)2.80796939
41Intention tremor (HP:0002080)2.77592362
42* Dysmetria (HP:0001310)2.75678787
43Excessive salivation (HP:0003781)2.74493559
44Drooling (HP:0002307)2.74493559
45Hemiparesis (HP:0001269)2.68945579
46Abnormality of binocular vision (HP:0011514)2.67298211
47Diplopia (HP:0000651)2.67298211
48Megalencephaly (HP:0001355)2.65324815
49Scanning speech (HP:0002168)2.64567655
50Hemiplegia (HP:0002301)2.64319712
51Impaired smooth pursuit (HP:0007772)2.62454130
52Progressive inability to walk (HP:0002505)2.61689225
53Limb dystonia (HP:0002451)2.57145469
54Hyperventilation (HP:0002883)2.55907912
55Pheochromocytoma (HP:0002666)2.52448066
56Focal dystonia (HP:0004373)2.51504415
57Bradykinesia (HP:0002067)2.51465407
58Amblyopia (HP:0000646)2.48959076
59* Urinary bladder sphincter dysfunction (HP:0002839)2.48675132
60* Spastic gait (HP:0002064)2.48484228
61Amyotrophic lateral sclerosis (HP:0007354)2.46951588
62Insomnia (HP:0100785)2.43154847
63Epileptiform EEG discharges (HP:0011182)2.41069005
64EEG with generalized epileptiform discharges (HP:0011198)2.38810322
65Ventricular fibrillation (HP:0001663)2.38148296
66Agitation (HP:0000713)2.36007789
67Stereotypic behavior (HP:0000733)2.34650826
68Fetal akinesia sequence (HP:0001989)2.33546111
69Abnormality of ocular smooth pursuit (HP:0000617)2.32946898
70Hypsarrhythmia (HP:0002521)2.31185142
71Craniofacial dystonia (HP:0012179)2.30677375
72Akinesia (HP:0002304)2.29824361
73Spastic tetraparesis (HP:0001285)2.28012497
74Bronchomalacia (HP:0002780)2.21829663
75Polyphagia (HP:0002591)2.20772016
76Aplasia involving bones of the extremities (HP:0009825)2.19347228
77Aplasia involving bones of the upper limbs (HP:0009823)2.19347228
78Aplasia of the phalanges of the hand (HP:0009802)2.19347228
79Impaired vibratory sensation (HP:0002495)2.13042756
80Neuronal loss in central nervous system (HP:0002529)2.10367617
81Dysmetric saccades (HP:0000641)2.10322852
82Absent speech (HP:0001344)2.09787434
83Turricephaly (HP:0000262)2.09750877
84Neuroendocrine neoplasm (HP:0100634)2.09638130
85Delusions (HP:0000746)2.09582141
86Diminished motivation (HP:0000745)2.09334915
87Generalized myoclonic seizures (HP:0002123)2.08830150
88Inappropriate behavior (HP:0000719)2.08052762
89Status epilepticus (HP:0002133)2.08004417
90Pointed chin (HP:0000307)2.07814532
91Split foot (HP:0001839)2.05594154
92* Lower limb muscle weakness (HP:0007340)2.03594461
93Obstructive sleep apnea (HP:0002870)2.02210367
94Choreoathetosis (HP:0001266)2.01601028
95Inability to walk (HP:0002540)2.00431533
96Aqueductal stenosis (HP:0002410)1.98024700
97Apathy (HP:0000741)1.97096567
98Morphological abnormality of the pyramidal tract (HP:0002062)1.95762037
99Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.92437479
100CNS hypomyelination (HP:0003429)1.91594024
101Rigidity (HP:0002063)1.88860308
102Gait ataxia (HP:0002066)1.86825484
103Abnormality of saccadic eye movements (HP:0000570)1.86197831
104Blue irides (HP:0000635)1.85795200
105Annular pancreas (HP:0001734)1.83690650
106Rapidly progressive (HP:0003678)1.83681368
107Hammertoe (HP:0001765)1.82946427
108Lower limb asymmetry (HP:0100559)1.82876200
109Peripheral hypomyelination (HP:0007182)1.81862817
110Degeneration of the lateral corticospinal tracts (HP:0002314)1.81183739
111Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.81183739
112Abnormality of salivation (HP:0100755)1.80724636
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.79866129
114* Clonus (HP:0002169)1.78820338
115Postural tremor (HP:0002174)1.78450053
116Abnormal EKG (HP:0003115)1.78152075
117Incomplete penetrance (HP:0003829)1.77744178
118Neoplasm of the peripheral nervous system (HP:0100007)1.77244613
119Spastic tetraplegia (HP:0002510)1.72975842
120Overriding aorta (HP:0002623)1.72189959
121Hypoplasia of the corpus callosum (HP:0002079)1.71563070

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.43959134
2MAP3K94.22615840
3NTRK34.12276075
4EPHA43.43789409
5MAP3K42.90058677
6MINK12.85772784
7PAK62.49407034
8NTRK22.45087471
9DAPK22.35895055
10NTRK12.30936878
11MAP2K72.25549447
12PRKD32.09792247
13KSR22.02747465
14CAMKK11.92675225
15MAP2K41.72322533
16CDK51.60197896
17TNIK1.57500750
18PHKG21.54354201
19PHKG11.54354201
20MAPK131.46102261
21KSR11.42363272
22LATS21.40788014
23MAP3K121.38911974
24STK381.34876889
25UHMK11.28408183
26MAP3K21.28106708
27PNCK1.26053779
28TYRO31.22917705
29RIPK41.22916128
30SIK21.22838239
31DAPK11.22519433
32GRK51.20564553
33CASK1.18847429
34CDK191.17642061
35PRPF4B1.17621063
36PLK21.14814735
37PRKCG1.14012965
38TAOK11.13354234
39ALK1.02390386
40CAMKK21.01543058
41FES1.00534441
42RET0.99231493
43PRKCH0.97435410
44STK110.97298541
45CSNK1G20.94991535
46CDK150.94846326
47CDK180.94147038
48LMTK20.92643944
49CDK140.92414051
50SGK2230.92033970
51SGK4940.92033970
52PAK30.90458698
53MARK20.89774893
54SCYL20.89689454
55ARAF0.86027923
56CAMK2A0.85494250
57CAMK10.85150722
58CDK11A0.82877459
59CAMK1D0.79402950
60RIPK10.71723431
61OXSR10.70590382
62CAMK1G0.70463643
63DYRK1A0.68988743
64MAP3K130.68598586
65CAMK40.67857292
66CAMK2B0.65603708
67SGK30.65379350
68SGK10.64374912
69PINK10.64147874
70SGK20.63249002
71WNK10.62832000
72CDC42BPA0.61861177
73PRKCZ0.57786714
74PDK10.56483818
75RAF10.54728445
76FYN0.54108979
77PDPK10.53988666
78PKN10.53623393
79RPS6KA30.52685189
80MAPK120.50689876
81MAP3K10.50239711
82BRAF0.49783312
83NEK60.48744025
84MAPK100.47252253
85RPS6KA20.46535273
86PRKCE0.45059359
87ERBB20.44872889
88FGFR20.42584661
89BRSK10.42552304
90LIMK10.42446298
91TNK20.42200253
92ICK0.42121452
93BCR0.41411726
94DAPK30.41283806
95NEK10.41232157
96ERBB30.40383912
97WNK30.39809047
98CAMK2D0.39689402
99MAP3K70.39628579
100CSNK1G30.38659638
101CAMK2G0.38235419
102CSNK1E0.38168344
103PTK2B0.37384181
104STK390.37194377
105DYRK20.36726137
106GSK3B0.35362862
107CSNK1D0.34030834
108ROCK20.33854644
109CSNK1A1L0.33739086
110MAPK80.33689913
111FER0.33046170
112PRKDC0.31142161
113ROCK10.29216348
114TESK10.28299247
115PRKAA10.25268012
116PRKG10.25013604

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.44348149
2Synaptic vesicle cycle_Homo sapiens_hsa047213.30539157
3GABAergic synapse_Homo sapiens_hsa047272.77021611
4Circadian entrainment_Homo sapiens_hsa047132.65401410
5Olfactory transduction_Homo sapiens_hsa047402.65314809
6Glutamatergic synapse_Homo sapiens_hsa047242.53856388
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.51797869
8Long-term potentiation_Homo sapiens_hsa047202.46135023
9Morphine addiction_Homo sapiens_hsa050322.43507366
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.40079833
11Amphetamine addiction_Homo sapiens_hsa050312.23316253
12Dopaminergic synapse_Homo sapiens_hsa047282.14026760
13Salivary secretion_Homo sapiens_hsa049702.10623075
14Insulin secretion_Homo sapiens_hsa049112.03971487
15Cholinergic synapse_Homo sapiens_hsa047251.93940532
16Gastric acid secretion_Homo sapiens_hsa049711.87505630
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.80051961
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.69522034
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.67527648
20Cocaine addiction_Homo sapiens_hsa050301.66924808
21Long-term depression_Homo sapiens_hsa047301.62737728
22Taste transduction_Homo sapiens_hsa047421.60898604
23Serotonergic synapse_Homo sapiens_hsa047261.57826383
24Renin secretion_Homo sapiens_hsa049241.57296189
25Oxytocin signaling pathway_Homo sapiens_hsa049211.56323818
26Vitamin B6 metabolism_Homo sapiens_hsa007501.54945246
27GnRH signaling pathway_Homo sapiens_hsa049121.42533086
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.42521375
29Calcium signaling pathway_Homo sapiens_hsa040201.41249832
30Gap junction_Homo sapiens_hsa045401.38298035
31Type II diabetes mellitus_Homo sapiens_hsa049301.36687810
32Axon guidance_Homo sapiens_hsa043601.29915738
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.29283135
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28644004
35Nitrogen metabolism_Homo sapiens_hsa009101.25754347
36cAMP signaling pathway_Homo sapiens_hsa040241.25020849
37Estrogen signaling pathway_Homo sapiens_hsa049151.23433495
38Glioma_Homo sapiens_hsa052141.16842623
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.15033223
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11934150
41Collecting duct acid secretion_Homo sapiens_hsa049661.09689788
42ErbB signaling pathway_Homo sapiens_hsa040121.09088082
43Melanogenesis_Homo sapiens_hsa049161.02939781
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97743674
45Dorso-ventral axis formation_Homo sapiens_hsa043200.94662289
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.93558050
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.86953627
48Oocyte meiosis_Homo sapiens_hsa041140.86433010
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85272610
50Pancreatic secretion_Homo sapiens_hsa049720.84954516
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.83847225
52Phototransduction_Homo sapiens_hsa047440.83272733
53Thyroid hormone synthesis_Homo sapiens_hsa049180.81130129
54Cardiac muscle contraction_Homo sapiens_hsa042600.80240431
55Vibrio cholerae infection_Homo sapiens_hsa051100.79350899
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77588735
57Neurotrophin signaling pathway_Homo sapiens_hsa047220.74244883
58Choline metabolism in cancer_Homo sapiens_hsa052310.73207128
59Dilated cardiomyopathy_Homo sapiens_hsa054140.73106486
60MAPK signaling pathway_Homo sapiens_hsa040100.72148239
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.71460062
62Endometrial cancer_Homo sapiens_hsa052130.63891858
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.63636645
64Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.63542997
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.61854209
66Bile secretion_Homo sapiens_hsa049760.61779991
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61445178
68Endocytosis_Homo sapiens_hsa041440.61372713
69Ras signaling pathway_Homo sapiens_hsa040140.61315450
70VEGF signaling pathway_Homo sapiens_hsa043700.61147889
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61128570
72mTOR signaling pathway_Homo sapiens_hsa041500.60991157
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.60490055
74Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58014308
75Renal cell carcinoma_Homo sapiens_hsa052110.56001836
76Rap1 signaling pathway_Homo sapiens_hsa040150.55788231
77Alcoholism_Homo sapiens_hsa050340.55415007
78Hippo signaling pathway_Homo sapiens_hsa043900.54258223
79Type I diabetes mellitus_Homo sapiens_hsa049400.51927386
80Glucagon signaling pathway_Homo sapiens_hsa049220.50630093
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49097685
82Insulin signaling pathway_Homo sapiens_hsa049100.48002873
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47996159
84Prion diseases_Homo sapiens_hsa050200.47753119
85Inositol phosphate metabolism_Homo sapiens_hsa005620.46649952
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46536477
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.46125625
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45641908
89Fatty acid biosynthesis_Homo sapiens_hsa000610.45017840
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44981629
91Non-small cell lung cancer_Homo sapiens_hsa052230.44855036
92Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44834698
93Arginine and proline metabolism_Homo sapiens_hsa003300.43391785
94AMPK signaling pathway_Homo sapiens_hsa041520.42234560
95Wnt signaling pathway_Homo sapiens_hsa043100.42164359
96Ovarian steroidogenesis_Homo sapiens_hsa049130.41457644
97Circadian rhythm_Homo sapiens_hsa047100.37771501
98Chemokine signaling pathway_Homo sapiens_hsa040620.37697697
99Colorectal cancer_Homo sapiens_hsa052100.37593673
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37068052
101Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36457982
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34498040
103Arginine biosynthesis_Homo sapiens_hsa002200.31335987
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31320377
105Tight junction_Homo sapiens_hsa045300.28700695
106Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28097288
107Prolactin signaling pathway_Homo sapiens_hsa049170.28092689
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.27746684
109Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.27014927
110Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24023719
111Hedgehog signaling pathway_Homo sapiens_hsa043400.23436437
112beta-Alanine metabolism_Homo sapiens_hsa004100.22561424
113Central carbon metabolism in cancer_Homo sapiens_hsa052300.21452221

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