AHCYL1

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 interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.23911600
2locomotory exploration behavior (GO:0035641)5.22738394
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.04834302
4cellular potassium ion homeostasis (GO:0030007)4.84155391
5sodium ion export (GO:0071436)4.80860525
6central nervous system myelination (GO:0022010)4.66464054
7axon ensheathment in central nervous system (GO:0032291)4.66464054
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.53510460
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.36896198
10glutamate secretion (GO:0014047)4.35711772
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.22748591
12synaptic vesicle exocytosis (GO:0016079)4.17512032
13gamma-aminobutyric acid transport (GO:0015812)4.10435089
14vocalization behavior (GO:0071625)4.07759872
15regulation of synaptic vesicle exocytosis (GO:2000300)4.06289980
16neurotransmitter secretion (GO:0007269)3.94336266
17cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.93180787
18regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.89537321
19cell communication by electrical coupling (GO:0010644)3.84312757
20potassium ion import (GO:0010107)3.72157774
21ionotropic glutamate receptor signaling pathway (GO:0035235)3.71438032
22regulation of glutamate receptor signaling pathway (GO:1900449)3.70593484
23layer formation in cerebral cortex (GO:0021819)3.70552385
24regulation of long-term neuronal synaptic plasticity (GO:0048169)3.60401309
25glycine transport (GO:0015816)3.59646596
26proline transport (GO:0015824)3.59483040
27regulation of synaptic vesicle transport (GO:1902803)3.58011726
28L-amino acid import (GO:0043092)3.56210696
29regulation of neuronal synaptic plasticity (GO:0048168)3.56060395
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.55661345
31neuronal action potential propagation (GO:0019227)3.55553114
32exploration behavior (GO:0035640)3.48208994
33cellular sodium ion homeostasis (GO:0006883)3.43368455
34activation of protein kinase A activity (GO:0034199)3.35478509
35potassium ion homeostasis (GO:0055075)3.32827258
36glutamate receptor signaling pathway (GO:0007215)3.31793628
37regulation of synapse structural plasticity (GO:0051823)3.30662997
38alanine transport (GO:0032328)3.25864406
39neuromuscular process controlling balance (GO:0050885)3.24014184
40neurotransmitter-gated ion channel clustering (GO:0072578)3.23924030
41synaptic transmission, glutamatergic (GO:0035249)3.23141389
42cerebellar Purkinje cell differentiation (GO:0021702)3.22889419
43postsynaptic membrane organization (GO:0001941)3.22493408
44neurotransmitter transport (GO:0006836)3.19130353
45positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15378903
46long-term memory (GO:0007616)3.11281545
47dendrite morphogenesis (GO:0048813)3.10976431
48protein localization to synapse (GO:0035418)3.10464758
49cerebellar granule cell differentiation (GO:0021707)3.09561492
50negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.08031277
51regulation of ARF protein signal transduction (GO:0032012)3.06500222
52amino acid import (GO:0043090)3.01944306
53dendritic spine morphogenesis (GO:0060997)3.01875426
54neuron-neuron synaptic transmission (GO:0007270)3.01181274
55regulation of neurotransmitter levels (GO:0001505)2.95773289
56positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.93895487
57prepulse inhibition (GO:0060134)2.92322024
58astrocyte development (GO:0014002)2.92021682
59regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.90650183
60regulation of excitatory postsynaptic membrane potential (GO:0060079)2.90455768
61regulation of clathrin-mediated endocytosis (GO:2000369)2.90074789
62negative regulation of dendrite morphogenesis (GO:0050774)2.89910376
63positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.89469744
64auditory behavior (GO:0031223)2.87442893
65neurotransmitter uptake (GO:0001504)2.87367475
66regulation of synaptic plasticity (GO:0048167)2.86896404
67establishment of nucleus localization (GO:0040023)2.86896178
68peripheral nervous system axon ensheathment (GO:0032292)2.86497762
69myelination in peripheral nervous system (GO:0022011)2.86497762
70regulation of dendritic spine morphogenesis (GO:0061001)2.84728992
71regulation of early endosome to late endosome transport (GO:2000641)2.83947009
72nerve growth factor signaling pathway (GO:0038180)2.83586022
73positive regulation of dendritic spine development (GO:0060999)2.82763552
74response to auditory stimulus (GO:0010996)2.82425914
75membrane repolarization (GO:0086009)2.78459798
76astrocyte differentiation (GO:0048708)2.78336140
77neuromuscular process controlling posture (GO:0050884)2.77966670
78positive regulation of membrane potential (GO:0045838)2.76431902
79neuron cell-cell adhesion (GO:0007158)2.76308018
80regulation of postsynaptic membrane potential (GO:0060078)2.75041845
81G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.73723354
82regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.73350492
83myelin maintenance (GO:0043217)2.72808546
84acidic amino acid transport (GO:0015800)2.72614674
85regulation of synaptic transmission, glutamatergic (GO:0051966)2.70484201
86long-term synaptic potentiation (GO:0060291)2.70151799
87positive regulation of synapse maturation (GO:0090129)2.67476910
88regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.67237867
89positive regulation of potassium ion transmembrane transport (GO:1901381)2.66372846
90regulation of vesicle fusion (GO:0031338)2.65910705
91transmission of nerve impulse (GO:0019226)2.65509933
92cerebellar Purkinje cell layer development (GO:0021680)2.64894299
93regulation of synapse maturation (GO:0090128)2.64543835
94regulation of neurotransmitter secretion (GO:0046928)2.64261476
95cytoskeletal anchoring at plasma membrane (GO:0007016)2.64011200
96C4-dicarboxylate transport (GO:0015740)2.63013280
97negative regulation of sodium ion transport (GO:0010766)2.62310907
98regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.62054185
99cell communication involved in cardiac conduction (GO:0086065)2.61335469
100membrane depolarization during action potential (GO:0086010)2.61322057
101vesicle transport along microtubule (GO:0047496)2.60895257
102synaptic vesicle endocytosis (GO:0048488)2.60711743
103myelination (GO:0042552)2.59588060
104negative regulation of synaptic transmission, GABAergic (GO:0032229)2.58214279
105axonal fasciculation (GO:0007413)2.57334384
106positive regulation of potassium ion transport (GO:0043268)2.56950268
107membrane hyperpolarization (GO:0060081)2.56938437
108axon ensheathment (GO:0008366)2.56310279
109ensheathment of neurons (GO:0007272)2.56310279
110innervation (GO:0060384)2.56166647
111negative regulation of hormone biosynthetic process (GO:0032353)2.55686580
112neuromuscular process (GO:0050905)2.55005737
113regulation of neurotransmitter transport (GO:0051588)2.51713319
114gamma-aminobutyric acid signaling pathway (GO:0007214)2.50179054
115cell differentiation in hindbrain (GO:0021533)2.48754141
116neuron recognition (GO:0008038)2.48312004
117L-glutamate transport (GO:0015813)2.48310448
118clathrin coat assembly (GO:0048268)2.47588127
119neuronal ion channel clustering (GO:0045161)2.46969979
120mating behavior (GO:0007617)2.46850420
121presynaptic membrane organization (GO:0097090)2.44721873
122detection of calcium ion (GO:0005513)2.43320710
123negative regulation of hormone metabolic process (GO:0032351)2.41219338
124presynaptic membrane assembly (GO:0097105)2.40642321
125positive regulation of dendritic spine morphogenesis (GO:0061003)2.35677059
126dicarboxylic acid biosynthetic process (GO:0043650)2.34693560
127sodium ion homeostasis (GO:0055078)2.34547358
128positive regulation of dendrite development (GO:1900006)2.33964782
129protein retention in ER lumen (GO:0006621)2.27248286
130regulation of glucocorticoid metabolic process (GO:0031943)2.26282803
131response to parathyroid hormone (GO:0071107)2.26187406
132positive regulation of neurotransmitter transport (GO:0051590)2.25770582
133embryonic retina morphogenesis in camera-type eye (GO:0060059)2.21785799

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.43691340
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.80721361
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.63625003
4GBX2_23144817_ChIP-Seq_PC3_Human2.56912103
5DROSHA_22980978_ChIP-Seq_HELA_Human2.50833473
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50681489
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50681489
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.42709221
9TRIM28_21343339_ChIP-Seq_HEK293_Human2.42591371
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.39946280
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33681326
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.26415749
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24794040
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.23790023
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.23166000
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.17160652
17REST_21632747_ChIP-Seq_MESCs_Mouse2.04234206
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.03103769
19PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.00669322
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99312016
21EED_16625203_ChIP-ChIP_MESCs_Mouse1.95143518
22RNF2_27304074_Chip-Seq_ESCs_Mouse1.92278340
23EZH2_27294783_Chip-Seq_ESCs_Mouse1.91231051
24CLOCK_20551151_ChIP-Seq_293T_Human1.91159959
25AR_21572438_ChIP-Seq_LNCaP_Human1.88625098
26EZH2_27304074_Chip-Seq_ESCs_Mouse1.87482433
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86616037
28SUZ12_27294783_Chip-Seq_ESCs_Mouse1.85499069
29NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.67624128
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.66083388
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.64652419
32RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.57135247
33ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.54109299
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52375299
35WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.51084930
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.48728874
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.47836083
38ZNF217_24962896_ChIP-Seq_MCF-7_Human1.43768497
39SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.43250202
40* ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.42700887
41* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42158230
42WT1_25993318_ChIP-Seq_PODOCYTE_Human1.40371573
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.39954842
44SMAD4_21799915_ChIP-Seq_A2780_Human1.37410842
45KDM2B_26808549_Chip-Seq_K562_Human1.37035826
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35447739
47ESR1_21235772_ChIP-Seq_MCF-7_Human1.34712497
48ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.33427479
49AR_19668381_ChIP-Seq_PC3_Human1.32204449
50OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.29551756
51* LXR_22292898_ChIP-Seq_THP-1_Human1.28893774
52TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.28753283
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27376601
54* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26016801
55TP63_17297297_ChIP-ChIP_HaCaT_Human1.25570179
56NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.23245528
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.23150796
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.22468709
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.22408548
60ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21466441
61DNAJC2_21179169_ChIP-ChIP_NT2_Human1.21014702
62PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.20817611
63TP53_16413492_ChIP-PET_HCT116_Human1.20583589
64* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.20297453
65RXR_22108803_ChIP-Seq_LS180_Human1.19919984
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.19420904
67ZNF263_19887448_ChIP-Seq_K562_Human1.19281979
68RARG_19884340_ChIP-ChIP_MEFs_Mouse1.19184844
69* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.18112303
70BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.16784166
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16660403
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16323478
73* STAT3_23295773_ChIP-Seq_U87_Human1.15309505
74ZNF274_21170338_ChIP-Seq_K562_Hela1.13947185
75DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.13874144
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.12442138
77ESR1_15608294_ChIP-ChIP_MCF-7_Human1.11983579
78AHR_22903824_ChIP-Seq_MCF-7_Human1.10640807
79* RACK7_27058665_Chip-Seq_MCF-7_Human1.06993476
80SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06714882
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06248264
82AR_25329375_ChIP-Seq_VCAP_Human1.05906653
83ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05816758
84YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05682629
85RING1B_27294783_Chip-Seq_NPCs_Mouse1.04789156
86GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.04743782
87EP300_21415370_ChIP-Seq_HL-1_Mouse1.04100061
88NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04087069
89SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04055011
90GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02892270
91UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.02419651
92RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02381600
93ESR2_21235772_ChIP-Seq_MCF-7_Human1.02120981
94* SMAD4_21741376_ChIP-Seq_HESCs_Human1.01747653
95PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01631206
96CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00339624
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00279400
98ESR1_20079471_ChIP-ChIP_T-47D_Human0.99545187
99SMAD3_21741376_ChIP-Seq_EPCs_Human0.99353765
100POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.98365548
101NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97557976
102SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97440757
103RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96680566
104TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96636066
105* FOXA2_19822575_ChIP-Seq_HepG2_Human0.96390912
106SMAD3_21741376_ChIP-Seq_HESCs_Human0.95938510
107CREB1_26743006_Chip-Seq_LNCaP_Human0.95723606
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.95543472
109ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95279757
110TCF4_23295773_ChIP-Seq_U87_Human0.94004341
111CTBP1_25329375_ChIP-Seq_LNCAP_Human0.93879249
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92891094
113SMC4_20622854_ChIP-Seq_HELA_Human0.92180371
114GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91935468
115SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91659454
116GATA1_26923725_Chip-Seq_HPCs_Mouse0.91402118
117TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.91111431
118P300_19829295_ChIP-Seq_ESCs_Human0.91062761
119VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91039851
120* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90895945
121TP53_18474530_ChIP-ChIP_U2OS_Human0.90698531
122BCAT_22108803_ChIP-Seq_LS180_Human0.90568642
123NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.90480400
124CTCF_27219007_Chip-Seq_Bcells_Human0.90383478
125PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90304814
126TBX20_22328084_ChIP-Seq_HEART_Mouse0.90232602
127TBX20_22080862_ChIP-Seq_HEART_Mouse0.90232602
128SMAD3_21741376_ChIP-Seq_ESCs_Human0.90121986
129EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90005788
130POU5F1_16518401_ChIP-PET_MESCs_Mouse0.89340719
131SOX9_24532713_ChIP-Seq_HFSC_Mouse0.87985143
132TP53_23651856_ChIP-Seq_MEFs_Mouse0.87920473
133ISL1_27105846_Chip-Seq_CPCs_Mouse0.87250801
134NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.87110208
135NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.86649864
136CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.86628588
137TET1_21490601_ChIP-Seq_MESCs_Mouse0.85252269
138TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84757724
139TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84324719
140* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.83462322
141AR_21909140_ChIP-Seq_LNCAP_Human0.83194883

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.21949044
2MP0003635_abnormal_synaptic_transmissio3.76874307
3MP0004270_analgesia3.24557593
4MP0003880_abnormal_central_pattern3.08885957
5MP0009780_abnormal_chondrocyte_physiolo2.95573594
6MP0009745_abnormal_behavioral_response2.93481959
7MP0009046_muscle_twitch2.92124012
8MP0002064_seizures2.84909444
9MP0002063_abnormal_learning/memory/cond2.84267984
10MP0002909_abnormal_adrenal_gland2.41781863
11MP0005423_abnormal_somatic_nervous2.39795263
12MP0001486_abnormal_startle_reflex2.34827243
13MP0004885_abnormal_endolymph2.34653130
14MP0002572_abnormal_emotion/affect_behav2.29382502
15MP0004858_abnormal_nervous_system2.25918543
16MP0002272_abnormal_nervous_system2.22391426
17MP0008569_lethality_at_weaning2.13538163
18MP0001968_abnormal_touch/_nociception2.10219838
19MP0002734_abnormal_mechanical_nocicepti2.06765494
20MP0003123_paternal_imprinting2.06115628
21MP0003329_amyloid_beta_deposits2.01798517
22MP0002822_catalepsy1.94227043
23MP0001501_abnormal_sleep_pattern1.88365957
24MP0003690_abnormal_glial_cell1.80606887
25MP0001440_abnormal_grooming_behavior1.79994162
26MP0000566_synostosis1.72904731
27MP0005409_darkened_coat_color1.72357249
28MP0002067_abnormal_sensory_capabilities1.69687895
29MP0004043_abnormal_pH_regulation1.63723093
30MP0003633_abnormal_nervous_system1.63073477
31MP0003283_abnormal_digestive_organ1.56760404
32MP0002733_abnormal_thermal_nociception1.55253421
33MP0005646_abnormal_pituitary_gland1.52521322
34MP0002736_abnormal_nociception_after1.50662379
35MP0000013_abnormal_adipose_tissue1.50014190
36MP0004811_abnormal_neuron_physiology1.49842007
37MP0002557_abnormal_social/conspecific_i1.46904857
38MP0001970_abnormal_pain_threshold1.43936290
39MP0000955_abnormal_spinal_cord1.39714958
40MP0005386_behavior/neurological_phenoty1.37420694
41MP0004924_abnormal_behavior1.37420694
42MP0010234_abnormal_vibrissa_follicle1.36546599
43MP0000778_abnormal_nervous_system1.35349085
44MP0008961_abnormal_basal_metabolism1.33838249
45MP0001299_abnormal_eye_distance/1.32736840
46MP0000569_abnormal_digit_pigmentation1.29696248
47MP0002184_abnormal_innervation1.29641167
48MP0003631_nervous_system_phenotype1.29448848
49MP0009379_abnormal_foot_pigmentation1.29134373
50MP0002882_abnormal_neuron_morphology1.28521910
51MP0002066_abnormal_motor_capabilities/c1.28170897
52MP0002735_abnormal_chemical_nociception1.27691168
53MP0005257_abnormal_intraocular_pressure1.27603989
54MP0001502_abnormal_circadian_rhythm1.24581156
55MP0005623_abnormal_meninges_morphology1.22460023
56MP0001984_abnormal_olfaction1.19180822
57MP0003634_abnormal_glial_cell1.16747030
58MP0002090_abnormal_vision1.16643782
59MP0002877_abnormal_melanocyte_morpholog1.15665455
60MP0005551_abnormal_eye_electrophysiolog1.14692139
61MP0004130_abnormal_muscle_cell1.11529593
62MP0001177_atelectasis1.11247121
63MP0000579_abnormal_nail_morphology1.10538072
64MP0003075_altered_response_to1.10290627
65MP0000462_abnormal_digestive_system1.09016127
66MP0003879_abnormal_hair_cell1.08119923
67MP0003632_abnormal_nervous_system1.05530628
68MP0005167_abnormal_blood-brain_barrier1.05465017
69MP0002229_neurodegeneration1.02972434
70MP0003705_abnormal_hypodermis_morpholog1.02881844
71MP0002152_abnormal_brain_morphology1.02128604
72MP0000920_abnormal_myelination1.01069287
73MP0003868_abnormal_feces_composition0.98583777
74MP0000604_amyloidosis0.97742131
75MP0005248_abnormal_Harderian_gland0.96289896
76MP0001346_abnormal_lacrimal_gland0.95695533
77MP0009384_cardiac_valve_regurgitation0.95452853
78MP0004233_abnormal_muscle_weight0.93814693
79MP0005535_abnormal_body_temperature0.91908582
80MP0002069_abnormal_eating/drinking_beha0.89616486
81MP0003172_abnormal_lysosome_physiology0.89323670
82MP0001485_abnormal_pinna_reflex0.88281412
83MP0000003_abnormal_adipose_tissue0.88203793
84MP0002089_abnormal_postnatal_growth/wei0.87492287
85MP0000751_myopathy0.85422678
86MP0005187_abnormal_penis_morphology0.84874628
87MP0005645_abnormal_hypothalamus_physiol0.82739125
88MP0004085_abnormal_heartbeat0.82100364
89MP0004215_abnormal_myocardial_fiber0.82044071
90MP0003787_abnormal_imprinting0.81337079
91MP0003045_fibrosis0.81023755
92MP0001905_abnormal_dopamine_level0.79848291
93MP0004142_abnormal_muscle_tone0.79301340
94MP0001348_abnormal_lacrimal_gland0.78178888
95MP0004145_abnormal_muscle_electrophysio0.77897261
96MP0003300_gastrointestinal_ulcer0.77828677
97MP0008872_abnormal_physiological_respon0.76817879
98MP0008874_decreased_physiological_sensi0.75656351
99MP0003136_yellow_coat_color0.75193539
100MP0009672_abnormal_birth_weight0.73979836
101MP0005666_abnormal_adipose_tissue0.72735532
102MP0003122_maternal_imprinting0.72653856
103MP0003137_abnormal_impulse_conducting0.72500528
104MP0003252_abnormal_bile_duct0.68939193
105MP0002249_abnormal_larynx_morphology0.68852992
106MP0003938_abnormal_ear_development0.68591323
107MP0004742_abnormal_vestibular_system0.68153960
108MP0003566_abnormal_cell_adhesion0.66840488
109MP0001849_ear_inflammation0.66807780
110MP0001188_hyperpigmentation0.65652837
111MP0003861_abnormal_nervous_system0.65538442
112MP0000428_abnormal_craniofacial_morphol0.65472743
113MP0000678_abnormal_parathyroid_gland0.65193349
114MP0001731_abnormal_postnatal_growth0.64484747
115MP0005670_abnormal_white_adipose0.63061938
116MP0000534_abnormal_ureter_morphology0.62909469
117MP0002896_abnormal_bone_mineralization0.62790357
118MP0005375_adipose_tissue_phenotype0.62690154
119MP0003183_abnormal_peptide_metabolism0.61414217
120MP0000747_muscle_weakness0.60743388
121MP0001765_abnormal_ion_homeostasis0.59948798
122MP0010352_gastrointestinal_tract_polyps0.58072016
123MP0002971_abnormal_brown_adipose0.57894530
124MP0004185_abnormal_adipocyte_glucose0.56052420
125MP0001958_emphysema0.55587958
126MP0001664_abnormal_digestion0.55054583
127MP0001963_abnormal_hearing_physiology0.54897225

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.43569632
2Myokymia (HP:0002411)5.06083073
3Focal seizures (HP:0007359)4.35854881
4Action tremor (HP:0002345)4.21986688
5Visual hallucinations (HP:0002367)3.98858674
6Progressive cerebellar ataxia (HP:0002073)3.59017298
7Dysdiadochokinesis (HP:0002075)3.44777727
8Hemiplegia (HP:0002301)3.36284589
9Epileptic encephalopathy (HP:0200134)3.29938726
10Supranuclear gaze palsy (HP:0000605)3.19439720
11Postural instability (HP:0002172)3.15086975
12Atonic seizures (HP:0010819)3.05312754
13Ankle clonus (HP:0011448)3.03130757
14Dysmetric saccades (HP:0000641)2.98704545
15Generalized tonic-clonic seizures (HP:0002069)2.98336173
16Depression (HP:0000716)2.96088056
17Absence seizures (HP:0002121)2.89177723
18Intention tremor (HP:0002080)2.87596320
19Impaired vibration sensation in the lower limbs (HP:0002166)2.87327900
20Dysmetria (HP:0001310)2.86013643
21Megalencephaly (HP:0001355)2.85446512
22Genetic anticipation (HP:0003743)2.79643700
23Gaze-evoked nystagmus (HP:0000640)2.72334377
24Truncal ataxia (HP:0002078)2.69972641
25Papilledema (HP:0001085)2.69235473
26Febrile seizures (HP:0002373)2.68723568
27Aplasia involving bones of the upper limbs (HP:0009823)2.66735072
28Aplasia of the phalanges of the hand (HP:0009802)2.66735072
29Aplasia involving bones of the extremities (HP:0009825)2.66735072
30Abnormal social behavior (HP:0012433)2.64307514
31Impaired social interactions (HP:0000735)2.64307514
32Urinary bladder sphincter dysfunction (HP:0002839)2.61877193
33Scanning speech (HP:0002168)2.57605102
34Peripheral hypomyelination (HP:0007182)2.56588782
35Hemiparesis (HP:0001269)2.56579828
36Poor eye contact (HP:0000817)2.55214374
37Dialeptic seizures (HP:0011146)2.54937011
38Diplopia (HP:0000651)2.54816137
39Abnormality of binocular vision (HP:0011514)2.54816137
40Abnormal eating behavior (HP:0100738)2.46592115
41Macroorchidism (HP:0000053)2.46395164
42Broad-based gait (HP:0002136)2.45580513
43Anxiety (HP:0000739)2.41278758
44Overriding aorta (HP:0002623)2.40477657
45Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.39913284
46Cerebral inclusion bodies (HP:0100314)2.38664346
47Neurofibrillary tangles (HP:0002185)2.36571897
48Status epilepticus (HP:0002133)2.36033100
49Urinary urgency (HP:0000012)2.34618361
50Impaired smooth pursuit (HP:0007772)2.33007736
51Abnormality of the lower motor neuron (HP:0002366)2.32105490
52Hyperparathyroidism (HP:0000843)2.31818359
53Spastic gait (HP:0002064)2.28898627
54Akinesia (HP:0002304)2.28867553
55Insomnia (HP:0100785)2.28025457
56Termporal pattern (HP:0011008)2.26748476
57Insidious onset (HP:0003587)2.26748476
58Torticollis (HP:0000473)2.23917574
59Ventricular fibrillation (HP:0001663)2.13935358
60Alacrima (HP:0000522)2.12614451
61Hyperventilation (HP:0002883)2.10911665
62Bradykinesia (HP:0002067)2.09611262
63Partial duplication of thumb phalanx (HP:0009944)2.09277445
64Pheochromocytoma (HP:0002666)2.09123682
65Abnormality of ocular smooth pursuit (HP:0000617)2.08959394
66Annular pancreas (HP:0001734)2.08837248
67Bronchomalacia (HP:0002780)2.08298212
68Tetraplegia (HP:0002445)2.06759123
69Lower limb asymmetry (HP:0100559)2.05532068
70Resting tremor (HP:0002322)2.05485797
71Sleep apnea (HP:0010535)2.04982067
72Postural tremor (HP:0002174)2.04799301
73Pointed chin (HP:0000307)2.01836628
74Increased circulating renin level (HP:0000848)2.01163539
75Stereotypic behavior (HP:0000733)2.00871874
76Lower limb muscle weakness (HP:0007340)2.00562616
77Protrusio acetabuli (HP:0003179)1.98804615
78Drooling (HP:0002307)1.98743183
79Excessive salivation (HP:0003781)1.98743183
80Focal dystonia (HP:0004373)1.97409359
81Bundle branch block (HP:0011710)1.96590175
82Impaired vibratory sensation (HP:0002495)1.96495468
83Thickened helices (HP:0000391)1.95895339
84Turricephaly (HP:0000262)1.92767585
85Ankyloglossia (HP:0010296)1.90198513
86Hammertoe (HP:0001765)1.89382409
87Clonus (HP:0002169)1.88353769
88Neoplasm of the heart (HP:0100544)1.87086999
89Arterial tortuosity (HP:0005116)1.85044627
90Abnormality of saccadic eye movements (HP:0000570)1.83060402
91Partial duplication of the phalanx of hand (HP:0009999)1.83044144
92Agitation (HP:0000713)1.81314943
93Hyperthyroidism (HP:0000836)1.79847078
94Spinal canal stenosis (HP:0003416)1.79578824
95Abnormality of the corticospinal tract (HP:0002492)1.78037054
96Spastic tetraparesis (HP:0001285)1.77081012
97Renal duplication (HP:0000075)1.77009082
98Buphthalmos (HP:0000557)1.76913544
99Cerebral hypomyelination (HP:0006808)1.76655423
100Bowel incontinence (HP:0002607)1.76546993
101Craniofacial dystonia (HP:0012179)1.76057185
102Shallow orbits (HP:0000586)1.75773337
103Limb dystonia (HP:0002451)1.75333662
104Coronal craniosynostosis (HP:0004440)1.74885580
105EEG with generalized epileptiform discharges (HP:0011198)1.73643339
106Epileptiform EEG discharges (HP:0011182)1.72757187
107Overgrowth (HP:0001548)1.72476655
108Truncus arteriosus (HP:0001660)1.72440823
109Gait ataxia (HP:0002066)1.72210044
110Progressive inability to walk (HP:0002505)1.72009391
111Hypsarrhythmia (HP:0002521)1.71425407
112Hyperacusis (HP:0010780)1.69324247
113Neuronal loss in central nervous system (HP:0002529)1.68295696
114Arnold-Chiari malformation (HP:0002308)1.68265145
115Decreased motor nerve conduction velocity (HP:0003431)1.67843608
116Upper limb amyotrophy (HP:0009129)1.67375544
117Distal upper limb amyotrophy (HP:0007149)1.67375544
118Broad metatarsal (HP:0001783)1.66542979
119Obstructive sleep apnea (HP:0002870)1.66202135
120Athetosis (HP:0002305)1.65968763
121Vascular tortuosity (HP:0004948)1.65144859
122Abnormality of the periventricular white matter (HP:0002518)1.64961693
123Increased nuchal translucency (HP:0010880)1.64147031
124Mutism (HP:0002300)1.63993965
125Rigidity (HP:0002063)1.63008679
126Neuroendocrine neoplasm (HP:0100634)1.62480897
127Apathy (HP:0000741)1.62333804
128Elfin facies (HP:0004428)1.62241481
129Abnormality of the diencephalon (HP:0010662)1.60789038
130Nuclear cataract (HP:0100018)1.56897820
131Metabolic alkalosis (HP:0200114)1.56778395
132Hand muscle atrophy (HP:0009130)1.56541625
133Abnormal large intestine physiology (HP:0012700)1.56480821
134Hyperphosphatemia (HP:0002905)1.56266053
135Foot dorsiflexor weakness (HP:0009027)1.55794695
136Renovascular hypertension (HP:0100817)1.54857478

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.79001925
2EPHA43.40942767
3MAP3K92.89645125
4PRKD32.67354892
5MAP3K42.35825316
6PAK62.30084532
7TRIB32.29515750
8CAMKK12.27370152
9KSR22.17353937
10MINK12.09836413
11DAPK22.00203159
12NTRK11.96667250
13NTRK21.89123539
14MARK11.80120447
15MAP3K21.73325294
16CAMKK21.71248332
17MAP2K41.69394010
18ICK1.61127621
19LMTK21.60379665
20STK381.59635841
21RIPK11.57336792
22MAP2K71.49520301
23PDGFRA1.47296907
24TYRO31.39534739
25ARAF1.38845538
26KSR11.38636739
27WNK11.37557633
28CAMK1G1.35788301
29CASK1.34243910
30EEF2K1.34196427
31CDK51.33933232
32PRKCH1.31182399
33SGK4941.27180236
34SGK2231.27180236
35SGK31.26508859
36RET1.26332391
37PRPF4B1.16777467
38SGK21.13583026
39PAK31.11323957
40TAOK11.10251113
41NEK61.06775437
42ALK1.04259536
43FGFR41.02387128
44PRKCG1.00371562
45FGFR20.99569082
46DDR20.98220174
47SCYL20.97300179
48TNIK0.95458663
49PHKG10.94071233
50PHKG20.94071233
51STK110.92349431
52RIPK40.91348085
53PKN20.88448393
54CAMK1D0.86236926
55UHMK10.85921079
56CAMK2D0.85508618
57PDPK10.84707684
58LATS10.84443287
59SIK20.84227110
60MAP3K10.84080991
61ROCK20.83515545
62BRAF0.83299238
63CDC42BPA0.83284703
64PLK20.83000586
65LATS20.82854691
66OXSR10.82231629
67MET0.81593138
68PTK60.79999755
69BMX0.79162051
70SIK10.77898642
71CAMK10.76843290
72PINK10.76623152
73PDK10.76209301
74MAP3K130.75453277
75MAP3K70.73847107
76CDK150.73749906
77SGK10.73237839
78MAPKAPK50.72740943
79SMG10.71747076
80WNK40.71214504
81CDK180.70720434
82DAPK10.67980881
83FGFR30.67653038
84CDK140.67589241
85FER0.67524456
86CDK190.66759274
87DMPK0.66715763
88MTOR0.66563265
89GRK50.64892439
90CAMK2A0.64878444
91FES0.64224019
92NEK10.63462216
93MAPK130.63113668
94BRSK10.61353960
95CSNK1E0.61338995
96CDK11A0.61121302
97MST1R0.59781510
98CAMK2B0.59714439
99FRK0.58679782
100RPS6KA30.58320205
101CDK120.56195359
102PRKG20.56116260
103PDGFRB0.55329516
104MAPK120.55143768
105PTK20.54887126
106MARK20.53936688
107PRKD20.53803122
108WNK30.53562814
109FGFR10.51838337
110PNCK0.51364049
111PTK2B0.51349546
112CSNK1G20.51308634
113MAPK100.50494758
114MAP2K10.49205133
115DYRK1A0.48529397
116MOS0.48047217
117ROCK10.46968739
118PBK0.46113011
119CAMK2G0.45562848
120CAMK40.45487008
121PRKCZ0.45102730
122FYN0.44911473
123PDK20.43702086
124PAK20.43486183
125STK390.42758739
126RAF10.41853285
127IRAK30.36912054
128AKT20.36536326

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.85083766
2Nicotine addiction_Homo sapiens_hsa050332.48486854
3Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.38763960
4Synaptic vesicle cycle_Homo sapiens_hsa047212.27990516
5GABAergic synapse_Homo sapiens_hsa047272.20789988
6Glutamatergic synapse_Homo sapiens_hsa047242.16326919
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.15073616
8Olfactory transduction_Homo sapiens_hsa047402.14308691
9Long-term potentiation_Homo sapiens_hsa047202.13811317
10Circadian entrainment_Homo sapiens_hsa047132.07911982
11Vitamin B6 metabolism_Homo sapiens_hsa007502.04390576
12Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.91300380
13Salivary secretion_Homo sapiens_hsa049701.85678835
14Insulin secretion_Homo sapiens_hsa049111.85119995
15Morphine addiction_Homo sapiens_hsa050321.84692439
16Amphetamine addiction_Homo sapiens_hsa050311.83011170
17Gastric acid secretion_Homo sapiens_hsa049711.81849920
18Dopaminergic synapse_Homo sapiens_hsa047281.61235085
19Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.57772940
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54563295
21Cholinergic synapse_Homo sapiens_hsa047251.46678693
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.41564461
23Renin secretion_Homo sapiens_hsa049241.39516549
24Long-term depression_Homo sapiens_hsa047301.34768540
25Cocaine addiction_Homo sapiens_hsa050301.33337894
26Type II diabetes mellitus_Homo sapiens_hsa049301.26662129
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26354160
28Oxytocin signaling pathway_Homo sapiens_hsa049211.24373857
29Bile secretion_Homo sapiens_hsa049761.21502718
30Histidine metabolism_Homo sapiens_hsa003401.17922147
31GnRH signaling pathway_Homo sapiens_hsa049121.16810370
32Taste transduction_Homo sapiens_hsa047421.16256281
33Gap junction_Homo sapiens_hsa045401.15140061
34Glioma_Homo sapiens_hsa052141.13392433
35Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.13005070
36Fatty acid biosynthesis_Homo sapiens_hsa000611.11798756
37Carbohydrate digestion and absorption_Homo sapiens_hsa049731.10421239
38cAMP signaling pathway_Homo sapiens_hsa040241.09747068
39Dorso-ventral axis formation_Homo sapiens_hsa043201.07177763
40Calcium signaling pathway_Homo sapiens_hsa040201.06781326
41Estrogen signaling pathway_Homo sapiens_hsa049151.03613878
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03159979
43Pancreatic secretion_Homo sapiens_hsa049721.00223054
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.98338573
45Thyroid hormone synthesis_Homo sapiens_hsa049180.98278372
46Arginine and proline metabolism_Homo sapiens_hsa003300.98035429
47Arginine biosynthesis_Homo sapiens_hsa002200.97077724
48Serotonergic synapse_Homo sapiens_hsa047260.96725223
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94808686
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.92825673
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92017065
52beta-Alanine metabolism_Homo sapiens_hsa004100.89768671
53Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.89335401
54Melanogenesis_Homo sapiens_hsa049160.85439970
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.84071062
56ErbB signaling pathway_Homo sapiens_hsa040120.83797643
57Adherens junction_Homo sapiens_hsa045200.80462639
58Biosynthesis of amino acids_Homo sapiens_hsa012300.75771937
59Glucagon signaling pathway_Homo sapiens_hsa049220.75720302
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.75174022
61Phenylalanine metabolism_Homo sapiens_hsa003600.74934943
62Phototransduction_Homo sapiens_hsa047440.74433525
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73361796
64Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.72454399
65Dilated cardiomyopathy_Homo sapiens_hsa054140.72381087
66mTOR signaling pathway_Homo sapiens_hsa041500.72220442
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.71955755
68Axon guidance_Homo sapiens_hsa043600.70302776
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69800071
70Tight junction_Homo sapiens_hsa045300.69188862
71Butanoate metabolism_Homo sapiens_hsa006500.67197530
72Choline metabolism in cancer_Homo sapiens_hsa052310.64081833
73Hippo signaling pathway_Homo sapiens_hsa043900.61099312
742-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.60923113
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.59125370
76Endometrial cancer_Homo sapiens_hsa052130.57178752
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56993914
78Protein digestion and absorption_Homo sapiens_hsa049740.56819452
79Fatty acid metabolism_Homo sapiens_hsa012120.56682850
80Circadian rhythm_Homo sapiens_hsa047100.56233776
81Cyanoamino acid metabolism_Homo sapiens_hsa004600.56174308
82Carbon metabolism_Homo sapiens_hsa012000.56139293
83Insulin signaling pathway_Homo sapiens_hsa049100.55783263
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54731189
85Non-small cell lung cancer_Homo sapiens_hsa052230.53860688
86VEGF signaling pathway_Homo sapiens_hsa043700.53717692
87MAPK signaling pathway_Homo sapiens_hsa040100.52578646
88Collecting duct acid secretion_Homo sapiens_hsa049660.52455081
89Rap1 signaling pathway_Homo sapiens_hsa040150.51633459
90Inositol phosphate metabolism_Homo sapiens_hsa005620.51278958
91Mineral absorption_Homo sapiens_hsa049780.51031619
92Amoebiasis_Homo sapiens_hsa051460.50840632
93Thyroid cancer_Homo sapiens_hsa052160.50820188
94ECM-receptor interaction_Homo sapiens_hsa045120.49612975
95Chronic myeloid leukemia_Homo sapiens_hsa052200.48296227
96Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47986423
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.47249458
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46953117
99Vibrio cholerae infection_Homo sapiens_hsa051100.45268586
100Endocytosis_Homo sapiens_hsa041440.44365883
101Insulin resistance_Homo sapiens_hsa049310.43721459
102Renal cell carcinoma_Homo sapiens_hsa052110.43618050
103Proteoglycans in cancer_Homo sapiens_hsa052050.43213933
104Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42465913
105Oocyte meiosis_Homo sapiens_hsa041140.41819888
106Sphingolipid signaling pathway_Homo sapiens_hsa040710.41347721
107Central carbon metabolism in cancer_Homo sapiens_hsa052300.40305509
108PPAR signaling pathway_Homo sapiens_hsa033200.40111214
109Ras signaling pathway_Homo sapiens_hsa040140.38338017
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38291603
111Fatty acid degradation_Homo sapiens_hsa000710.38250502
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38077337
113Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36941809
114Prion diseases_Homo sapiens_hsa050200.35848150
115AMPK signaling pathway_Homo sapiens_hsa041520.35228351
116Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35050761
117Focal adhesion_Homo sapiens_hsa045100.34640781
118Cardiac muscle contraction_Homo sapiens_hsa042600.34557965

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