CLIP2

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 belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.95366878
2locomotory exploration behavior (GO:0035641)5.64780480
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.36580279
4layer formation in cerebral cortex (GO:0021819)5.17364510
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.83933686
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.64867074
7synaptic vesicle docking involved in exocytosis (GO:0016081)4.60651526
8vocalization behavior (GO:0071625)4.53930214
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.40012370
10glutamate secretion (GO:0014047)4.38392265
11regulation of synaptic vesicle exocytosis (GO:2000300)4.25094609
12regulation of synapse structural plasticity (GO:0051823)4.23934919
13synaptic vesicle exocytosis (GO:0016079)4.19070293
14exploration behavior (GO:0035640)4.15113884
15regulation of glutamate receptor signaling pathway (GO:1900449)4.12519124
16dendritic spine morphogenesis (GO:0060997)4.09832532
17sodium ion export (GO:0071436)4.00079528
18amino acid import (GO:0043090)3.94978775
19proline transport (GO:0015824)3.88647260
20protein localization to synapse (GO:0035418)3.80340648
21dendrite morphogenesis (GO:0048813)3.77258199
22regulation of neuronal synaptic plasticity (GO:0048168)3.76260643
23cerebellar granule cell differentiation (GO:0021707)3.75730471
24regulation of synaptic vesicle transport (GO:1902803)3.66853084
25regulation of long-term neuronal synaptic plasticity (GO:0048169)3.63644552
26neurotransmitter secretion (GO:0007269)3.61969752
27activation of protein kinase A activity (GO:0034199)3.59987308
28cytoskeletal anchoring at plasma membrane (GO:0007016)3.56933301
29neuromuscular process controlling balance (GO:0050885)3.56873978
30cellular potassium ion homeostasis (GO:0030007)3.53337971
31cell migration in hindbrain (GO:0021535)3.52443203
32central nervous system myelination (GO:0022010)3.46874360
33axon ensheathment in central nervous system (GO:0032291)3.46874360
34regulation of ARF protein signal transduction (GO:0032012)3.45104403
35positive regulation of synapse maturation (GO:0090129)3.36931168
36ionotropic glutamate receptor signaling pathway (GO:0035235)3.36688832
37establishment of nucleus localization (GO:0040023)3.36083128
38cell communication by electrical coupling (GO:0010644)3.35141186
39neuron cell-cell adhesion (GO:0007158)3.34523351
40cerebellar Purkinje cell layer development (GO:0021680)3.29095933
41axonal fasciculation (GO:0007413)3.23820993
42cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.23774204
43gamma-aminobutyric acid transport (GO:0015812)3.20957301
44clathrin coat assembly (GO:0048268)3.20095721
45neuron recognition (GO:0008038)3.18647269
46glycine transport (GO:0015816)3.16665596
47neurotransmitter-gated ion channel clustering (GO:0072578)3.10997625
48regulation of dendritic spine morphogenesis (GO:0061001)3.05904763
49potassium ion homeostasis (GO:0055075)3.05314321
50vesicle transport along microtubule (GO:0047496)3.03784232
51presynaptic membrane assembly (GO:0097105)3.03715973
52presynaptic membrane organization (GO:0097090)3.03591833
53auditory behavior (GO:0031223)2.96907763
54membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.95837829
55G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.95583943
56regulation of ARF GTPase activity (GO:0032312)2.94969476
57response to auditory stimulus (GO:0010996)2.93804074
58long-term memory (GO:0007616)2.92589729
59synaptic transmission, glutamatergic (GO:0035249)2.92188894
60regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.91002103
61positive regulation of membrane potential (GO:0045838)2.90027983
62positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.89787024
63positive regulation of axon extension (GO:0045773)2.89666416
64nerve growth factor signaling pathway (GO:0038180)2.87980087
65dendritic spine organization (GO:0097061)2.87903745
66regulation of clathrin-mediated endocytosis (GO:2000369)2.86879937
67regulation of synaptic plasticity (GO:0048167)2.85633695
68organelle transport along microtubule (GO:0072384)2.85614684
69neuronal action potential propagation (GO:0019227)2.85512475
70cerebellar Purkinje cell differentiation (GO:0021702)2.85008558
71astrocyte development (GO:0014002)2.83950919
72synaptic vesicle endocytosis (GO:0048488)2.83102495
73mating behavior (GO:0007617)2.81234012
74regulation of excitatory postsynaptic membrane potential (GO:0060079)2.81106203
75regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.79131686
76positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.78201753
77glutamate receptor signaling pathway (GO:0007215)2.77369563
78central nervous system projection neuron axonogenesis (GO:0021952)2.76209473
79positive regulation of fibroblast migration (GO:0010763)2.75405479
80axon cargo transport (GO:0008088)2.74760174
81protein localization to endosome (GO:0036010)2.74011842
82neurotransmitter transport (GO:0006836)2.73177341
83positive regulation of synaptic transmission, GABAergic (GO:0032230)2.73153867
84negative regulation of microtubule polymerization (GO:0031115)2.71160193
85alanine transport (GO:0032328)2.71012003
86chondroitin sulfate catabolic process (GO:0030207)2.70426092
87innervation (GO:0060384)2.70364538
88axon extension (GO:0048675)2.70232868
89positive regulation of neurotransmitter secretion (GO:0001956)2.70201084
90neuronal ion channel clustering (GO:0045161)2.68232167
91prepulse inhibition (GO:0060134)2.66539608
92regulation of postsynaptic membrane potential (GO:0060078)2.66255660
93negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.65800668
94regulation of neurotransmitter secretion (GO:0046928)2.65699579
95postsynaptic membrane organization (GO:0001941)2.65597614
96membrane assembly (GO:0071709)2.65411158
97establishment of mitochondrion localization (GO:0051654)2.63135622
98negative regulation of dendrite morphogenesis (GO:0050774)2.63118056
99potassium ion import (GO:0010107)2.60141363
100neuromuscular process (GO:0050905)2.60011994
101semaphorin-plexin signaling pathway (GO:0071526)2.59953588
102dermatan sulfate biosynthetic process (GO:0030208)2.59816565
103regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.58468934
104astrocyte differentiation (GO:0048708)2.58310985
105neuron-neuron synaptic transmission (GO:0007270)2.58016487
106dermatan sulfate metabolic process (GO:0030205)2.56981841
107positive regulation of neurotransmitter transport (GO:0051590)2.56844144
108dopamine receptor signaling pathway (GO:0007212)2.55760339
109regulation of dendritic spine development (GO:0060998)2.55671387
110regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.55151331
111neuron projection regeneration (GO:0031102)2.54289032
112cell communication involved in cardiac conduction (GO:0086065)2.54200391
113L-amino acid import (GO:0043092)2.53586727
114positive regulation of dendritic spine development (GO:0060999)2.53382771
115regulation of neurotransmitter levels (GO:0001505)2.53196052
116cellular sodium ion homeostasis (GO:0006883)2.52023500
117peptidyl-tyrosine autophosphorylation (GO:0038083)2.51596915
118neuron projection extension (GO:1990138)2.51543915
119regulation of synapse maturation (GO:0090128)2.50793650
120plasma membrane repair (GO:0001778)2.49474997
121stress fiber assembly (GO:0043149)2.48208127
122negative regulation of catenin import into nucleus (GO:0035414)2.47665558
123membrane depolarization during action potential (GO:0086010)2.47289270
124adenosine receptor signaling pathway (GO:0001973)2.46764493
125acidic amino acid transport (GO:0015800)2.46505335
126regulation of axon extension (GO:0030516)2.46255431
127positive regulation of dendrite development (GO:1900006)2.45863341
128positive regulation of dendritic spine morphogenesis (GO:0061003)2.44807118
129synapse organization (GO:0050808)2.43706822
130regulation of vesicle fusion (GO:0031338)2.43264578
131regulation of neurotransmitter transport (GO:0051588)2.39854884
132negative regulation of synaptic transmission, GABAergic (GO:0032229)2.39577747
133regulation of early endosome to late endosome transport (GO:2000641)2.39035905
134myelination in peripheral nervous system (GO:0022011)2.37811554
135peripheral nervous system axon ensheathment (GO:0032292)2.37811554

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.11828046
2EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.80113157
3DROSHA_22980978_ChIP-Seq_HELA_Human2.69068151
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.53082872
5RNF2_18974828_ChIP-Seq_MESCs_Mouse2.51419366
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.51419366
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.51181674
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.49184417
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.45872100
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.29244686
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.27236431
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.25782712
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.25265114
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.14666158
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.10375349
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.09815124
17REST_21632747_ChIP-Seq_MESCs_Mouse2.08938639
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.07286882
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.05785030
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.05515542
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.04298385
22KDM2B_26808549_Chip-Seq_K562_Human2.01971385
23ZFP281_18757296_ChIP-ChIP_E14_Mouse1.93522845
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.91267275
25IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86717053
26TP63_17297297_ChIP-ChIP_HaCaT_Human1.83700589
27RARG_19884340_ChIP-ChIP_MEFs_Mouse1.81511415
28* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.79244755
29REST_18959480_ChIP-ChIP_MESCs_Mouse1.77654962
30EED_16625203_ChIP-ChIP_MESCs_Mouse1.76079942
31GBX2_23144817_ChIP-Seq_PC3_Human1.74418997
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.73117797
33TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.71846900
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70480723
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.70095773
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.69474802
37EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.60516178
38TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.59295179
39ZFP281_27345836_Chip-Seq_ESCs_Mouse1.59210480
40PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.56240770
41DNAJC2_21179169_ChIP-ChIP_NT2_Human1.54386294
42KDM2B_26808549_Chip-Seq_DND41_Human1.51950491
43NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49524004
44AR_21572438_ChIP-Seq_LNCaP_Human1.48508547
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.47820298
46RING1B_27294783_Chip-Seq_ESCs_Mouse1.40986661
47DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.39923407
48EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.39902887
49KDM2B_26808549_Chip-Seq_JURKAT_Human1.35896521
50STAT6_21828071_ChIP-Seq_BEAS2B_Human1.33265688
51VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.32706352
52GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31576448
53* RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.29493521
54SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.28376500
55ELK3_25401928_ChIP-Seq_HUVEC_Human1.27846033
56RING1B_27294783_Chip-Seq_NPCs_Mouse1.27842408
57* LXR_22292898_ChIP-Seq_THP-1_Human1.27309625
58ZNF217_24962896_ChIP-Seq_MCF-7_Human1.24283411
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.23712413
60GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.23113184
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.23024742
62ESR2_21235772_ChIP-Seq_MCF-7_Human1.21388018
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17713533
64ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17674779
65* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16823115
66CLOCK_20551151_ChIP-Seq_293T_Human1.15674802
67AR_19668381_ChIP-Seq_PC3_Human1.15575690
68RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.15471769
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15258763
70SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.15157562
71THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.13192600
72AHR_22903824_ChIP-Seq_MCF-7_Human1.10635197
73SOX2_21211035_ChIP-Seq_LN229_Gbm1.09852303
74P300_27058665_Chip-Seq_ZR-75-30cells_Human1.08261122
75ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.08009470
76ZNF274_21170338_ChIP-Seq_K562_Hela1.07698651
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.07611411
78KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.06116148
79* TP53_23651856_ChIP-Seq_MEFs_Mouse1.05255896
80TET1_21490601_ChIP-Seq_MESCs_Mouse1.05208220
81* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04998685
82NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04431718
83OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02851658
84PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01931204
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.01694612
86TRIM28_21343339_ChIP-Seq_HEK293_Human1.01692269
87* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01226527
88RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.00547407
89SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96956830
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95202117
91YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94922058
92* SMAD4_21741376_ChIP-Seq_HESCs_Human0.94902336
93CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94535586
94SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94505161
95TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.94010467
96SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.93826551
97TP53_16413492_ChIP-PET_HCT116_Human0.93081195
98CREB1_26743006_Chip-Seq_LNCaP_Human0.92969608
99RACK7_27058665_Chip-Seq_MCF-7_Human0.92604411
100PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92432460
101SMC1_22415368_ChIP-Seq_MEFs_Mouse0.91951818
102SMAD4_21799915_ChIP-Seq_A2780_Human0.91716217
103CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.91653577
104GATA1_19941827_ChIP-Seq_MEL_Mouse0.91522424
105* CTCF_27219007_Chip-Seq_Bcells_Human0.91504407
106NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.90485972
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.89969955
108TP53_22127205_ChIP-Seq_IMR90_Human0.89502418
109SRY_22984422_ChIP-ChIP_TESTIS_Rat0.89419522
110RXR_22108803_ChIP-Seq_LS180_Human0.88047308
111* SMAD3_21741376_ChIP-Seq_HESCs_Human0.88007493
112KLF4_19829295_ChIP-Seq_ESCs_Human0.86720398
113TP53_20018659_ChIP-ChIP_R1E_Mouse0.86358474
114ESR1_20079471_ChIP-ChIP_T-47D_Human0.85373923
115* TCF7_22412390_ChIP-Seq_EML_Mouse0.85332398
116CTBP2_25329375_ChIP-Seq_LNCAP_Human0.83748328
117* SMC4_20622854_ChIP-Seq_HELA_Human0.83559016
118* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83012081
119EP300_21415370_ChIP-Seq_HL-1_Mouse0.82882506
120VDR_21846776_ChIP-Seq_THP-1_Human0.82875269
121P53_22127205_ChIP-Seq_FIBROBLAST_Human0.82530780
122CTCF_27219007_Chip-Seq_ERYTHROID_Human0.81588269
123MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.79571948

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity6.57040228
2MP0003635_abnormal_synaptic_transmissio3.80181148
3MP0004270_analgesia3.69353272
4MP0004858_abnormal_nervous_system3.13989208
5MP0003880_abnormal_central_pattern3.02220555
6* MP0002063_abnormal_learning/memory/cond2.93009075
7MP0009780_abnormal_chondrocyte_physiolo2.71056953
8MP0005423_abnormal_somatic_nervous2.71039327
9MP0009745_abnormal_behavioral_response2.63782750
10MP0000569_abnormal_digit_pigmentation2.61361495
11MP0002064_seizures2.57089691
12MP0001968_abnormal_touch/_nociception2.39040592
13MP0002734_abnormal_mechanical_nocicepti2.32467646
14MP0009046_muscle_twitch2.28533153
15MP0003329_amyloid_beta_deposits2.16058722
16MP0002572_abnormal_emotion/affect_behav2.11881109
17MP0004811_abnormal_neuron_physiology2.08216857
18MP0005257_abnormal_intraocular_pressure1.99161605
19* MP0000778_abnormal_nervous_system1.95542887
20MP0002909_abnormal_adrenal_gland1.95359186
21MP0002733_abnormal_thermal_nociception1.90986550
22MP0001486_abnormal_startle_reflex1.90867941
23MP0005623_abnormal_meninges_morphology1.88642206
24MP0003283_abnormal_digestive_organ1.85258579
25MP0004885_abnormal_endolymph1.83297749
26MP0008569_lethality_at_weaning1.78864794
27MP0000955_abnormal_spinal_cord1.74233829
28MP0003705_abnormal_hypodermis_morpholog1.74111765
29MP0002272_abnormal_nervous_system1.72199736
30MP0002735_abnormal_chemical_nociception1.68927318
31MP0002736_abnormal_nociception_after1.68740084
32MP0002184_abnormal_innervation1.68642717
33MP0005409_darkened_coat_color1.67878556
34MP0001970_abnormal_pain_threshold1.67292196
35MP0002822_catalepsy1.66154577
36MP0001440_abnormal_grooming_behavior1.61583873
37MP0008961_abnormal_basal_metabolism1.57228804
38MP0001501_abnormal_sleep_pattern1.51367527
39MP0003279_aneurysm1.50430338
40MP0001348_abnormal_lacrimal_gland1.49635825
41MP0002557_abnormal_social/conspecific_i1.46505021
42MP0010234_abnormal_vibrissa_follicle1.44019049
43MP0002067_abnormal_sensory_capabilities1.43717769
44MP0003172_abnormal_lysosome_physiology1.40849479
45MP0003787_abnormal_imprinting1.36010034
46MP0003122_maternal_imprinting1.35337375
47MP0002882_abnormal_neuron_morphology1.35318338
48MP0003879_abnormal_hair_cell1.35317796
49MP0003633_abnormal_nervous_system1.33745187
50MP0000751_myopathy1.30986376
51MP0005058_abnormal_lysosome_morphology1.30805389
52MP0003303_peritoneal_inflammation1.29248226
53MP0004510_myositis1.28683802
54MP0004924_abnormal_behavior1.23888226
55MP0005386_behavior/neurological_phenoty1.23888226
56MP0003075_altered_response_to1.23726902
57* MP0002066_abnormal_motor_capabilities/c1.22827315
58MP0000013_abnormal_adipose_tissue1.18739267
59MP0003634_abnormal_glial_cell1.18257714
60MP0001299_abnormal_eye_distance/1.18083451
61* MP0002152_abnormal_brain_morphology1.16870625
62MP0000604_amyloidosis1.15868175
63MP0005167_abnormal_blood-brain_barrier1.11746211
64MP0003631_nervous_system_phenotype1.09132130
65MP0005076_abnormal_cell_differentiation1.08160378
66MP0003183_abnormal_peptide_metabolism1.05294438
67MP0003690_abnormal_glial_cell1.02789853
68MP0005595_abnormal_vascular_smooth1.02563998
69MP0001984_abnormal_olfaction1.02409911
70MP0004272_abnormal_basement_membrane1.01242327
71MP0009278_abnormal_bone_marrow0.99996180
72MP0002089_abnormal_postnatal_growth/wei0.99117158
73MP0001177_atelectasis0.98869073
74MP0000534_abnormal_ureter_morphology0.97767257
75MP0003091_abnormal_cell_migration0.96685581
76MP0003566_abnormal_cell_adhesion0.93988902
77MP0003045_fibrosis0.93460384
78MP0005187_abnormal_penis_morphology0.92149661
79MP0004130_abnormal_muscle_cell0.92033354
80MP0001905_abnormal_dopamine_level0.91168819
81MP0003123_paternal_imprinting0.89547261
82MP0009840_abnormal_foam_cell0.88841503
83MP0000920_abnormal_myelination0.88833282
84MP0004233_abnormal_muscle_weight0.86965063
85MP0001849_ear_inflammation0.85694320
86MP0000579_abnormal_nail_morphology0.85682223
87MP0005645_abnormal_hypothalamus_physiol0.84421542
88MP0003632_abnormal_nervous_system0.84035481
89MP0001502_abnormal_circadian_rhythm0.82786367
90MP0003300_gastrointestinal_ulcer0.82546243
91MP0003861_abnormal_nervous_system0.81499817
92MP0002877_abnormal_melanocyte_morpholog0.80922991
93MP0002069_abnormal_eating/drinking_beha0.79976722
94MP0000537_abnormal_urethra_morphology0.79283550
95MP0000003_abnormal_adipose_tissue0.77243711
96MP0002998_abnormal_bone_remodeling0.75629972
97MP0002653_abnormal_ependyma_morphology0.72097287
98MP0001958_emphysema0.70297451
99MP0004085_abnormal_heartbeat0.69873964
100MP0002896_abnormal_bone_mineralization0.69833054
101MP0008874_decreased_physiological_sensi0.69735116
102MP0002234_abnormal_pharynx_morphology0.69093547
103MP0001963_abnormal_hearing_physiology0.69089986
104MP0005166_decreased_susceptibility_to0.68605224
105MP0001915_intracranial_hemorrhage0.68145597
106MP0006276_abnormal_autonomic_nervous0.67583487
107MP0005503_abnormal_tendon_morphology0.67322960
108MP0002090_abnormal_vision0.67306318
109MP0002295_abnormal_pulmonary_circulatio0.65533168
110MP0004742_abnormal_vestibular_system0.65072912
111MP0002229_neurodegeneration0.64874849
112MP0002249_abnormal_larynx_morphology0.64448046
113MP0005388_respiratory_system_phenotype0.64001694
114MP0002133_abnormal_respiratory_system0.64001694
115MP0000747_muscle_weakness0.62275443
116MP0003385_abnormal_body_wall0.61086812
117MP0008438_abnormal_cutaneous_collagen0.59408776
118MP0005646_abnormal_pituitary_gland0.58866978
119MP0001943_abnormal_respiration0.57403443
120MP0004145_abnormal_muscle_electrophysio0.56883317
121MP0010769_abnormal_survival0.56051389
122MP0003137_abnormal_impulse_conducting0.55001281
123MP0008770_decreased_survivor_rate0.53081731
124MP0002081_perinatal_lethality0.52365543
125MP0010770_preweaning_lethality0.51031904

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.92396869
2Supranuclear gaze palsy (HP:0000605)3.94241138
3Focal motor seizures (HP:0011153)3.74703302
4Focal seizures (HP:0007359)3.73257295
5Visual hallucinations (HP:0002367)3.69700626
6Action tremor (HP:0002345)3.56295928
7Ankle clonus (HP:0011448)3.41380374
8Protrusio acetabuli (HP:0003179)3.35560341
9Mutism (HP:0002300)3.35033925
10Papilledema (HP:0001085)3.09628164
11Abnormality of the lower motor neuron (HP:0002366)2.90967078
12Insidious onset (HP:0003587)2.90706656
13Termporal pattern (HP:0011008)2.90706656
14Premature rupture of membranes (HP:0001788)2.84980940
15Neonatal short-limb short stature (HP:0008921)2.79770797
16Urinary bladder sphincter dysfunction (HP:0002839)2.77980976
17Shallow orbits (HP:0000586)2.76200153
18Depression (HP:0000716)2.72682591
19Progressive cerebellar ataxia (HP:0002073)2.71797259
20Genetic anticipation (HP:0003743)2.71407316
21Cerebral inclusion bodies (HP:0100314)2.70277576
22Urinary urgency (HP:0000012)2.67770770
23Epileptic encephalopathy (HP:0200134)2.60772620
24Aplasia involving bones of the upper limbs (HP:0009823)2.58654058
25Aplasia of the phalanges of the hand (HP:0009802)2.58654058
26Aplasia involving bones of the extremities (HP:0009825)2.58654058
27Hemiplegia (HP:0002301)2.57121495
28Megalencephaly (HP:0001355)2.57103597
29Postural instability (HP:0002172)2.57026810
30Impaired vibration sensation in the lower limbs (HP:0002166)2.55480625
31Vascular tortuosity (HP:0004948)2.53765190
32Neurofibrillary tangles (HP:0002185)2.53101123
33Apathy (HP:0000741)2.51877735
34Poor eye contact (HP:0000817)2.49282880
35Arterial tortuosity (HP:0005116)2.48151442
36Cerebral aneurysm (HP:0004944)2.46186949
37Peripheral hypomyelination (HP:0007182)2.46097330
38Macroorchidism (HP:0000053)2.45070766
39Torticollis (HP:0000473)2.44802830
40Atrophic scars (HP:0001075)2.44666968
41Impaired social interactions (HP:0000735)2.43596996
42Abnormal social behavior (HP:0012433)2.43596996
43* Pointed chin (HP:0000307)2.37227036
44Abnormal eating behavior (HP:0100738)2.33993358
45Lower limb amyotrophy (HP:0007210)2.30337096
46Mild short stature (HP:0003502)2.26242857
47Mitral regurgitation (HP:0001653)2.26019415
48Diminished motivation (HP:0000745)2.25131848
49Upper limb amyotrophy (HP:0009129)2.24565504
50Distal upper limb amyotrophy (HP:0007149)2.24565504
51Obstructive sleep apnea (HP:0002870)2.24441497
52Amyotrophic lateral sclerosis (HP:0007354)2.23555487
53Atonic seizures (HP:0010819)2.22735830
54Scanning speech (HP:0002168)2.19474866
55Abnormality of the corticospinal tract (HP:0002492)2.17957059
56Generalized tonic-clonic seizures (HP:0002069)2.17614458
57Spastic gait (HP:0002064)2.14818187
58Truncal ataxia (HP:0002078)2.13378789
59Ventricular fibrillation (HP:0001663)2.13020212
60Absence seizures (HP:0002121)2.12687554
61Bundle branch block (HP:0011710)2.12191896
62Inappropriate behavior (HP:0000719)2.11442745
63Drooling (HP:0002307)2.10544394
64Excessive salivation (HP:0003781)2.10544394
65Lower limb muscle weakness (HP:0007340)2.09687867
66Annular pancreas (HP:0001734)2.09271650
67Hemiparesis (HP:0001269)2.08431844
68Enlarged penis (HP:0000040)2.08206732
69Diplopia (HP:0000651)2.06948256
70Abnormality of binocular vision (HP:0011514)2.06948256
71Wormian bones (HP:0002645)2.06947364
72Dysdiadochokinesis (HP:0002075)2.05607296
73Rapidly progressive (HP:0003678)2.05058374
74Focal dystonia (HP:0004373)2.04706185
75Intention tremor (HP:0002080)2.04012714
76Dysmetria (HP:0001310)2.03940274
77Ankyloglossia (HP:0010296)2.03639193
78Neuronal loss in central nervous system (HP:0002529)2.03458878
79Stereotypic behavior (HP:0000733)2.00324106
80Fragile skin (HP:0001030)1.98288582
81Aqueductal stenosis (HP:0002410)1.97913107
82Dysmetric saccades (HP:0000641)1.97710181
83Hypercortisolism (HP:0001578)1.97289180
84Sleep apnea (HP:0010535)1.96137639
85Broad-based gait (HP:0002136)1.96002781
86Hand muscle atrophy (HP:0009130)1.95528034
87* Insomnia (HP:0100785)1.95438844
88* Bladder diverticulum (HP:0000015)1.95420633
89Amblyopia (HP:0000646)1.95230094
90Hyperextensible skin (HP:0000974)1.94920988
91Nuclear cataract (HP:0100018)1.92536817
92Hypoventilation (HP:0002791)1.92044748
93Agitation (HP:0000713)1.91901479
94Ulnar bowing (HP:0003031)1.89571278
95Impaired smooth pursuit (HP:0007772)1.89564321
96Craniofacial dystonia (HP:0012179)1.87503799
97Increased variability in muscle fiber diameter (HP:0003557)1.87149004
98Dialeptic seizures (HP:0011146)1.86492973
99Bradykinesia (HP:0002067)1.86164630
100Turricephaly (HP:0000262)1.86064124
101Febrile seizures (HP:0002373)1.84611814
102Spinal rigidity (HP:0003306)1.82840928
103Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.82745832
104Anxiety (HP:0000739)1.82647607
105Hammertoe (HP:0001765)1.82598775
106Bronchomalacia (HP:0002780)1.82254659
107Achilles tendon contracture (HP:0001771)1.81459872
108Lower limb asymmetry (HP:0100559)1.81105589
109Vertebral arch anomaly (HP:0008438)1.80240844
110Buphthalmos (HP:0000557)1.79157391
111Neoplasm of the heart (HP:0100544)1.76918724
112Wide anterior fontanel (HP:0000260)1.73569952
113* Bowel diverticulosis (HP:0005222)1.70699587
114Abnormality of dentin (HP:0010299)1.70665187
115Striae distensae (HP:0001065)1.70338685
116Subacute progressive viral hepatitis (HP:0006572)1.69564623
117Hyperparathyroidism (HP:0000843)1.69351081
118Intellectual disability, profound (HP:0002187)1.69170764
119Overgrowth (HP:0001548)1.68867345
120Ankle contracture (HP:0006466)1.68657958
121Akinesia (HP:0002304)1.67888073
122* Hyperacusis (HP:0010780)1.67817542
123Genu recurvatum (HP:0002816)1.67609850
124Resting tremor (HP:0002322)1.67107552
125Decreased motor nerve conduction velocity (HP:0003431)1.66942427
126Clonus (HP:0002169)1.66896129
127Abnormality of the Achilles tendon (HP:0005109)1.66879632
128Gaze-evoked nystagmus (HP:0000640)1.66773598
129Limb dystonia (HP:0002451)1.66423541
130Broad metatarsal (HP:0001783)1.66009778
131Onion bulb formation (HP:0003383)1.65629415
132Distal lower limb amyotrophy (HP:0008944)1.64746778
133Broad face (HP:0000283)1.62404781
134Aortic dissection (HP:0002647)1.60986899
135Dysostosis multiplex (HP:0000943)1.60494458
136Mitral valve prolapse (HP:0001634)1.57658476
137Rigidity (HP:0002063)1.57250511
138Vertebral compression fractures (HP:0002953)1.56052015
139Hypoplasia of the iris (HP:0007676)1.55912956
140Spastic tetraparesis (HP:0001285)1.55866666

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.19849574
2MAP3K94.12205500
3NTRK33.04964914
4PAK62.59849021
5PRKD32.55284024
6EPHA42.51867131
7TRIB32.49968837
8MINK12.45288213
9KSR22.33077287
10CAMKK12.26852962
11DAPK22.26777804
12MAP3K42.14587770
13NTRK12.03386392
14LATS22.00653863
15NTRK21.84185363
16RIPK11.77923085
17CASK1.74897547
18PKN21.74025119
19SIK21.71058237
20KSR11.62117264
21TYRO31.57492789
22TAOK11.52240767
23LMTK21.51434726
24RET1.50464537
25CDK51.44241629
26PDGFRA1.43398516
27ALK1.43370965
28ARAF1.38769301
29PHKG21.34822500
30PHKG11.34822500
31MAP3K21.33987617
32STK381.32214817
33SCYL21.27077579
34DDR21.24256008
35MAP2K41.21667159
36MAP2K71.10146586
37MOS1.09815668
38PRKCH1.08847090
39PKN11.06817360
40STK111.03065305
41PAK31.02321343
42ICK1.01775463
43CAMK1G1.01740549
44SIK11.01003290
45UHMK11.00971175
46MARK20.98029366
47FGFR40.96850970
48CAMK2B0.96223081
49BMX0.93789344
50MAPK130.91536419
51EEF2K0.90858014
52DMPK0.88121027
53CDK150.87201379
54CDK120.85912552
55DAPK10.85819372
56CDK180.84346367
57FES0.80596250
58CDK140.79872079
59PTK60.76788451
60CAMK2G0.76724365
61SGK20.76438019
62CDC42BPA0.75590699
63CDK11A0.74996878
64RIPK40.74197399
65PLK20.73437418
66LIMK10.72680899
67EPHB20.69840032
68PTK20.68762355
69PRPF4B0.68647759
70RPS6KA20.68341864
71PRKCG0.68043020
72MAPK120.67456031
73CAMKK20.67455187
74NEK10.67346315
75FER0.67021019
76PDGFRB0.66805644
77SMG10.66727042
78CSNK1G20.66475903
79MAP3K110.65129790
80SGK30.64608923
81PDPK10.64140213
82CAMK10.63126794
83PDK10.62654646
84ERN10.61831372
85GRK50.60541281
86MAP3K70.59575140
87FYN0.59466348
88PRKCZ0.59440871
89TNIK0.58071697
90PRKD20.57127266
91EPHB10.56857847
92DYRK1A0.56137544
93MAP3K10.55495007
94CAMK1D0.54551490
95ROCK10.54365228
96SGK2230.54356493
97SGK4940.54356493
98MTOR0.53338049
99MAP3K130.53114089
100PTK2B0.52734289
101JAK10.52126055
102IRAK30.51631143
103SGK10.50941972
104TAOK20.49881512
105FGFR20.48696822
106NEK60.48047361
107MAP2K10.47261658
108CDK190.46827026
109TESK10.46265564
110PRKG20.46044725
111ERBB20.45393509
112RPS6KA30.45047293
113RAF10.43855834
114PAK20.43242307
115MAPK40.42761318
116BRAF0.42736037
117MAP3K100.42734211
118DYRK1B0.42357703
119CAMK2A0.42017790
120PRKD10.41667691
121CAMK2D0.41579314
122MAPK100.41188282
123WNK10.41034341
124DAPK30.40294618
125SRC0.38882865
126CAMK40.38816558
127TTN0.36439018
128MAPK80.36274714
129ROCK20.35864613

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.43880381
2Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.26214308
3Olfactory transduction_Homo sapiens_hsa047402.02431032
4Circadian entrainment_Homo sapiens_hsa047131.98042559
5Nicotine addiction_Homo sapiens_hsa050331.92074725
6Long-term potentiation_Homo sapiens_hsa047201.89608075
7GABAergic synapse_Homo sapiens_hsa047271.82294269
8Glutamatergic synapse_Homo sapiens_hsa047241.81263349
9Gastric acid secretion_Homo sapiens_hsa049711.67856625
10Salivary secretion_Homo sapiens_hsa049701.65660888
11Morphine addiction_Homo sapiens_hsa050321.63528283
12Cholinergic synapse_Homo sapiens_hsa047251.63499811
13Dopaminergic synapse_Homo sapiens_hsa047281.62931169
14Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.62728382
15Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.58557786
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57352931
17Glioma_Homo sapiens_hsa052141.55903892
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.55685060
19Amphetamine addiction_Homo sapiens_hsa050311.55576549
20Insulin secretion_Homo sapiens_hsa049111.52629094
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.48433630
22Type II diabetes mellitus_Homo sapiens_hsa049301.44688609
23GnRH signaling pathway_Homo sapiens_hsa049121.42162796
24Axon guidance_Homo sapiens_hsa043601.40971675
25Oxytocin signaling pathway_Homo sapiens_hsa049211.39546567
26Gap junction_Homo sapiens_hsa045401.38683521
27Estrogen signaling pathway_Homo sapiens_hsa049151.38590775
28Nitrogen metabolism_Homo sapiens_hsa009101.32509046
29Renin secretion_Homo sapiens_hsa049241.29643224
30Cocaine addiction_Homo sapiens_hsa050301.27240720
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24675982
32ErbB signaling pathway_Homo sapiens_hsa040121.23249676
33Long-term depression_Homo sapiens_hsa047301.23199326
34Neurotrophin signaling pathway_Homo sapiens_hsa047221.17678712
35Endometrial cancer_Homo sapiens_hsa052131.15660647
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14917850
37Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.10308571
38ECM-receptor interaction_Homo sapiens_hsa045121.09698475
39Phospholipase D signaling pathway_Homo sapiens_hsa040721.08753939
40Dorso-ventral axis formation_Homo sapiens_hsa043201.08331077
41Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.08057761
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07851843
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07254243
44mTOR signaling pathway_Homo sapiens_hsa041501.05115730
45VEGF signaling pathway_Homo sapiens_hsa043701.05008764
46Carbohydrate digestion and absorption_Homo sapiens_hsa049731.04702692
47cAMP signaling pathway_Homo sapiens_hsa040241.04653903
48Melanogenesis_Homo sapiens_hsa049161.03145111
49Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.00610627
50Notch signaling pathway_Homo sapiens_hsa043300.98365271
51Calcium signaling pathway_Homo sapiens_hsa040200.97532983
52Renal cell carcinoma_Homo sapiens_hsa052110.96265748
53Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.96122041
54cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95393335
55Dilated cardiomyopathy_Homo sapiens_hsa054140.94409494
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.92167193
57Endocytosis_Homo sapiens_hsa041440.91765984
58Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.91476602
59Non-small cell lung cancer_Homo sapiens_hsa052230.90771314
60Serotonergic synapse_Homo sapiens_hsa047260.88295128
61Taste transduction_Homo sapiens_hsa047420.87983508
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87854175
63Colorectal cancer_Homo sapiens_hsa052100.87609280
64Choline metabolism in cancer_Homo sapiens_hsa052310.83453951
65Chronic myeloid leukemia_Homo sapiens_hsa052200.83238369
66Rap1 signaling pathway_Homo sapiens_hsa040150.83209452
67MAPK signaling pathway_Homo sapiens_hsa040100.81540575
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79474782
69Other glycan degradation_Homo sapiens_hsa005110.78784706
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78610992
71Vibrio cholerae infection_Homo sapiens_hsa051100.77939130
72Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.76811149
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.76630748
74Focal adhesion_Homo sapiens_hsa045100.76480968
75Protein digestion and absorption_Homo sapiens_hsa049740.76267863
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.75635283
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.73338082
78Proteoglycans in cancer_Homo sapiens_hsa052050.72835954
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.72058390
80Insulin signaling pathway_Homo sapiens_hsa049100.71812219
81Thyroid hormone synthesis_Homo sapiens_hsa049180.70585703
82Central carbon metabolism in cancer_Homo sapiens_hsa052300.69507910
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.69133210
84Oocyte meiosis_Homo sapiens_hsa041140.68945508
85Ras signaling pathway_Homo sapiens_hsa040140.67915929
86Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.65558020
87Prolactin signaling pathway_Homo sapiens_hsa049170.65188686
88Pancreatic cancer_Homo sapiens_hsa052120.64505154
89B cell receptor signaling pathway_Homo sapiens_hsa046620.63922039
90Regulation of actin cytoskeleton_Homo sapiens_hsa048100.63584930
91AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.63319102
92Platelet activation_Homo sapiens_hsa046110.62654720
93Pancreatic secretion_Homo sapiens_hsa049720.62586703
94Chemokine signaling pathway_Homo sapiens_hsa040620.61678648
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60673566
96Amoebiasis_Homo sapiens_hsa051460.60627583
97Bile secretion_Homo sapiens_hsa049760.60306491
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.59930082
99Bladder cancer_Homo sapiens_hsa052190.59689957
100Adherens junction_Homo sapiens_hsa045200.59657988
101Hippo signaling pathway_Homo sapiens_hsa043900.58803728
102Prion diseases_Homo sapiens_hsa050200.57415523
103Vitamin B6 metabolism_Homo sapiens_hsa007500.54545771
104Tight junction_Homo sapiens_hsa045300.54168351
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53998012
106Leukocyte transendothelial migration_Homo sapiens_hsa046700.53648399
107Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53580411
108Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.53186162
109Wnt signaling pathway_Homo sapiens_hsa043100.52093950
110Salmonella infection_Homo sapiens_hsa051320.50710623
111Inositol phosphate metabolism_Homo sapiens_hsa005620.50338133
112Glucagon signaling pathway_Homo sapiens_hsa049220.49681749
113Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49418866

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