ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cerebellar granule cell differentiation (GO:0021707)	9.26692273
2	cerebellar Purkinje cell differentiation (GO:0021702)	7.34784673
3	cerebellar Purkinje cell layer development (GO:0021680)	7.06860611
4	gamma-aminobutyric acid signaling pathway (GO:0007214)	6.75068601
5	cellular potassium ion homeostasis (GO:0030007)	6.63416914
6	fructose metabolic process (GO:0006000)	6.34241334
7	protein heterotetramerization (GO:0051290)	6.25015359
8	cell differentiation in hindbrain (GO:0021533)	6.21834184
9	metanephric tubule development (GO:0072170)	6.18795632
10	metanephric nephron tubule development (GO:0072234)	6.18795632
11	cellular sodium ion homeostasis (GO:0006883)	6.05116610
12	ionotropic glutamate receptor signaling pathway (GO:0035235)	5.77849449
13	collecting duct development (GO:0072044)	5.77017086
14	sodium ion export (GO:0071436)	5.68739774
15	prepulse inhibition (GO:0060134)	5.67558795
16	metanephric nephron epithelium development (GO:0072243)	5.62570102
17	response to histamine (GO:0034776)	5.58893034
18	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	5.51090001
19	C4-dicarboxylate transport (GO:0015740)	5.49955707
20	positive regulation of cardiac muscle hypertrophy (GO:0010613)	5.34777979
21	positive regulation of muscle hypertrophy (GO:0014742)	5.34777979
22	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	5.33459759
23	positive regulation of synaptic transmission, GABAergic (GO:0032230)	5.31498886
24	multicellular organismal movement (GO:0050879)	5.29138008
25	musculoskeletal movement (GO:0050881)	5.29138008
26	metanephric epithelium development (GO:0072207)	5.20717625
27	glutamate receptor signaling pathway (GO:0007215)	5.14557684
28	neuron-neuron synaptic transmission (GO:0007270)	5.14335003
29	retina layer formation (GO:0010842)	5.00508054
30	neurofilament cytoskeleton organization (GO:0060052)	4.95933271
31	inositol phosphate-mediated signaling (GO:0048016)	4.93273078
32	synaptic transmission, glutamatergic (GO:0035249)	4.64027494
33	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	4.63352314
34	potassium ion homeostasis (GO:0055075)	4.39164719
35	positive regulation of dendritic spine morphogenesis (GO:0061003)	4.33592744
36	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	4.32001946
37	relaxation of smooth muscle (GO:0044557)	4.15756020
38	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	4.15250184
39	negative regulation of norepinephrine secretion (GO:0010700)	4.14290873
40	neuronal action potential propagation (GO:0019227)	4.11591519
41	chemosensory behavior (GO:0007635)	4.04801094
42	negative regulation of heart rate (GO:0010459)	3.99820463
43	neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)	3.99244935
44	regulation of potassium ion transmembrane transporter activity (GO:1901016)	3.94645832
45	positive regulation of potassium ion transmembrane transport (GO:1901381)	3.90150223
46	aggressive behavior (GO:0002118)	3.88843490
47	positive regulation of glomerulus development (GO:0090193)	3.88315643
48	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	3.75526648
49	endoplasmic reticulum calcium ion homeostasis (GO:0032469)	3.73210597
50	relaxation of cardiac muscle (GO:0055119)	3.69516287
51	regulation of potassium ion transmembrane transport (GO:1901379)	3.69354173
52	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	3.66323569
53	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.64538209
54	negative regulation of fatty acid transport (GO:2000192)	3.62625288
55	long-term memory (GO:0007616)	3.62037812
56	behavioral response to nicotine (GO:0035095)	3.58569285
57	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	3.58194768
58	retinal cone cell development (GO:0046549)	3.57589677
59	innervation (GO:0060384)	3.55115036
60	auditory receptor cell stereocilium organization (GO:0060088)	3.52519013
61	relaxation of muscle (GO:0090075)	3.46424000
62	layer formation in cerebral cortex (GO:0021819)	3.44645783
63	nephron tubule development (GO:0072080)	3.44205514
64	serotonin metabolic process (GO:0042428)	3.44080322
65	long term synaptic depression (GO:0060292)	3.34396042
66	sodium ion homeostasis (GO:0055078)	3.30551905
67	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.29641339
68	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199	3.27629974
69	synaptic vesicle exocytosis (GO:0016079)	3.26229423
70	negative regulation of dendrite morphogenesis (GO:0050774)	3.26171077
71	transmission of nerve impulse (GO:0019226)	3.23014772
72	positive regulation of amino acid transport (GO:0051957)	3.22954853
73	dopamine biosynthetic process (GO:0042416)	3.22302574
74	glucocorticoid receptor signaling pathway (GO:0042921)	3.20640587
75	membrane depolarization during action potential (GO:0086010)	3.20088596
76	regulation of excitatory postsynaptic membrane potential (GO:0060079)	3.15382802
77	regulation of centriole replication (GO:0046599)	3.13278901
78	cellular response to ammonium ion (GO:0071242)	3.10502879
79	membrane repolarization during cardiac muscle cell action potential (GO:0086013)	3.10174073
80	membrane repolarization (GO:0086009)	3.08464977
81	detection of calcium ion (GO:0005513)	3.07164449
82	response to methylmercury (GO:0051597)	3.05688226
83	negative regulation of catecholamine secretion (GO:0033604)	3.05460107
84	cell communication by electrical coupling (GO:0010644)	3.02217674
85	cGMP metabolic process (GO:0046068)	3.00882021
86	endocrine hormone secretion (GO:0060986)	3.00532799
87	exploration behavior (GO:0035640)	2.99918246
88	renal tubule development (GO:0061326)	2.99718288
89	positive regulation of potassium ion transport (GO:0043268)	2.98806415
90	parturition (GO:0007567)	2.96916074
91	primary amino compound metabolic process (GO:1901160)	2.95509231
92	membrane repolarization during action potential (GO:0086011)	2.94466810
93	synaptic vesicle maturation (GO:0016188)	2.94012223
94	adult walking behavior (GO:0007628)	2.92394871
95	response to ammonium ion (GO:0060359)	2.92222006
96	negative regulation of heart contraction (GO:0045822)	2.91774250
97	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.91104035
98	cellular response to electrical stimulus (GO:0071257)	2.90049979
99	regulation of postsynaptic membrane potential (GO:0060078)	2.89749806
100	short-term memory (GO:0007614)	10.0352366

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.28988771
2	VDR_22108803_ChIP-Seq_LS180_Human	4.25120891
3	TAF15_26573619_Chip-Seq_HEK293_Human	4.13487557
4	GBX2_23144817_ChIP-Seq_PC3_Human	4.05945230
5	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	3.96996231
6	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.94385513
7	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.79293570
8	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.60618331
9	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.50216896
10	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.45455492
11	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.41422350
12	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.37130238
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.34764005
14	REST_21632747_ChIP-Seq_MESCs_Mouse	2.33205612
15	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	2.18286561
16	* POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.15327644
17	SMAD4_21799915_ChIP-Seq_A2780_Human	2.12104414
18	RNF2_18974828_ChIP-Seq_MESCs_Mouse	2.10159956
19	EZH2_18974828_ChIP-Seq_MESCs_Mouse	2.10159956
20	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.08534747
21	MTF2_20144788_ChIP-Seq_MESCs_Mouse	2.01820213
22	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.96160600
23	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.96027166
24	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.94733401
25	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.92435844
26	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.90404483
27	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.88777543
28	* FUS_26573619_Chip-Seq_HEK293_Human	1.82003423
29	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.81290699
30	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.79659289
31	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.78491668
32	GATA1_22025678_ChIP-Seq_K562_Human	1.75120568
33	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.74770198
34	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.74767298
35	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.68946146
36	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.68843726
37	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.67849096
38	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.67195432
39	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.66866597
40	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.65198132
41	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.64897559
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.64218441
43	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.62060656
44	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.59071089
45	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.58453112
46	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.51628855
47	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.50584823
48	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.47846138
49	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.46863783
50	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.43898353
51	HTT_18923047_ChIP-ChIP_STHdh_Human	1.43346985
52	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.43272348
53	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.43257557
54	AR_21572438_ChIP-Seq_LNCaP_Human	1.40900258
55	EGR1_19374776_ChIP-ChIP_THP-1_Human	1.39734611
56	AR_25329375_ChIP-Seq_VCAP_Human	1.33793710
57	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31370184
58	* TCF4_23295773_ChIP-Seq_U87_Human	1.30836672
59	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.25922344
60	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.25141985
61	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.24781593
62	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.24331755
63	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.24054698
64	P300_19829295_ChIP-Seq_ESCs_Human	1.22387852
65	STAT3_23295773_ChIP-Seq_U87_Human	1.22110016
66	REST_19997604_ChIP-ChIP_NEURONS_Mouse	1.20069125
67	EWS_26573619_Chip-Seq_HEK293_Human	1.19944224
68	SOX9_26525672_Chip-Seq_HEART_Mouse	1.16787143
69	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.13486635
70	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.13321584
71	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.12338243
72	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.10564362
73	JUN_21703547_ChIP-Seq_K562_Human	1.08909958
74	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.08813584
75	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.08461078
76	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.04319102
77	RNF2_27304074_Chip-Seq_NSC_Mouse	1.01203305
78	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.99313452
79	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.99126289
80	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.98893756
81	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.98735702
82	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.98420563
83	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.97484778
84	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.96803439
85	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.96300231
86	KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse	0.96132494
87	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	0.95439196
88	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.94120653
89	* AR_19668381_ChIP-Seq_PC3_Human	0.93822684
90	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.93395394
91	IGF1R_20145208_ChIP-Seq_DFB_Human	0.93004461
92	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.92812951
93	YAP1_20516196_ChIP-Seq_MESCs_Mouse	0.92773904
94	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.92253884
95	CTNNB1_20460455_ChIP-Seq_HCT116_Human	0.91921213
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.91496769
97	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.90565193
98	E2F7_22180533_ChIP-Seq_HELA_Human	0.85010747
99	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.83676383
100	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.83520208

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009046_muscle_twitch	6.01772604
2	MP0004742_abnormal_vestibular_system	5.04425012
3	MP0002272_abnormal_nervous_system	4.23471781
4	MP0003880_abnormal_central_pattern	4.23133648
5	MP0010386_abnormal_urinary_bladder	3.79485989
6	MP0006035_abnormal_mitochondrial_morpho	3.68987761
7	MP0008569_lethality_at_weaning	3.67779689
8	MP0003635_abnormal_synaptic_transmissio	3.32548380
9	MP0001984_abnormal_olfaction	3.25335607
10	MP0004859_abnormal_synaptic_plasticity	3.17267319
11	MP0004270_analgesia	3.15307660
12	MP0004147_increased_porphyrin_level	2.81112186
13	MP0001440_abnormal_grooming_behavior	2.78010304
14	MP0002064_seizures	2.77885989
15	MP0002067_abnormal_sensory_capabilities	2.58829690
16	MP0001968_abnormal_touch/_nociception	2.54793768
17	MP0009745_abnormal_behavioral_response	2.48602215
18	MP0002638_abnormal_pupillary_reflex	2.47097906
19	MP0002063_abnormal_learning/memory/cond	2.39354117
20	MP0001486_abnormal_startle_reflex	2.16324079
21	MP0003879_abnormal_hair_cell	2.10786750
22	MP0008875_abnormal_xenobiotic_pharmacok	2.07544049
23	MP0002735_abnormal_chemical_nociception	2.01517763
24	MP0005423_abnormal_somatic_nervous	1.97066130
25	MP0002572_abnormal_emotion/affect_behav	1.86297545
26	MP0002734_abnormal_mechanical_nocicepti	1.84594141
27	MP0002184_abnormal_innervation	1.81228579
28	MP0006276_abnormal_autonomic_nervous	1.73748574
29	MP0003137_abnormal_impulse_conducting	1.72361178
30	MP0008874_decreased_physiological_sensi	1.71862223
31	MP0001501_abnormal_sleep_pattern	1.62768449
32	MP0004036_abnormal_muscle_relaxation	1.54837048
33	MP0000566_synostosis	1.53961573
34	MP0004215_abnormal_myocardial_fiber	1.45334217
35	MP0000013_abnormal_adipose_tissue	1.44682894
36	MP0001970_abnormal_pain_threshold	1.41633353
37	MP0002557_abnormal_social/conspecific_i	1.37924993
38	MP0002066_abnormal_motor_capabilities/c	1.32921711
39	MP0004484_altered_response_of	1.31590062
40	MP0004043_abnormal_pH_regulation	1.27532473
41	MP0008872_abnormal_physiological_respon	1.24430545
42	MP0001188_hyperpigmentation	1.22285233
43	MP0000358_abnormal_cell_content/	1.20204295
44	MP0004084_abnormal_cardiac_muscle	1.19782701
45	MP0003787_abnormal_imprinting	1.17599468
46	MP0009697_abnormal_copulation	1.16164892
47	MP0002229_neurodegeneration	1.13146206
48	MP0002736_abnormal_nociception_after	1.12402390
49	MP0002882_abnormal_neuron_morphology	1.12057744
50	MP0008877_abnormal_DNA_methylation	1.10380378
51	MP0000003_abnormal_adipose_tissue	1.07405527
52	MP0004811_abnormal_neuron_physiology	1.04647391
53	MP0005410_abnormal_fertilization	0.99961544
54	MP0002733_abnormal_thermal_nociception	0.99732350
55	MP0004085_abnormal_heartbeat	0.94328027
56	MP0005620_abnormal_muscle_contractility	0.93645744
57	MP0003656_abnormal_erythrocyte_physiolo	0.93226076
58	MP0004924_abnormal_behavior	0.92667609
59	MP0005386_behavior/neurological_phenoty	0.92667609
60	MP0001485_abnormal_pinna_reflex	0.89850414
61	MP0001502_abnormal_circadian_rhythm	0.88369709
62	MP0002152_abnormal_brain_morphology	0.86599562
63	MP0000920_abnormal_myelination	0.85098562
64	MP0003633_abnormal_nervous_system	0.84606823
65	MP0000955_abnormal_spinal_cord	0.81270050
66	MP0006072_abnormal_retinal_apoptosis	0.79581368
67	MP0008775_abnormal_heart_ventricle	0.75038698
68	MP0003122_maternal_imprinting	0.74212699
69	MP0000569_abnormal_digit_pigmentation	0.68062875
70	MP0002277_abnormal_respiratory_mucosa	0.67703089
71	MP0005551_abnormal_eye_electrophysiolog	0.66780224
72	MP0003123_paternal_imprinting	0.66680278
73	MP0003631_nervous_system_phenotype	0.65363164
74	MP0005623_abnormal_meninges_morphology	0.65303642
75	MP0005174_abnormal_tail_pigmentation	0.63156465
76	MP0002160_abnormal_reproductive_system	0.62424134
77	MP0003698_abnormal_male_reproductive	0.61786132
78	MP0001299_abnormal_eye_distance/	0.60790368
79	MP0003011_delayed_dark_adaptation	0.60441133
80	MP0000015_abnormal_ear_pigmentation	0.60258293
81	MP0005187_abnormal_penis_morphology	0.60225994
82	MP0005409_darkened_coat_color	0.58773174
83	MP0008057_abnormal_DNA_replication	0.58357346
84	MP0006036_abnormal_mitochondrial_physio	0.57136961
85	MP0001765_abnormal_ion_homeostasis	0.56665717
86	MP0004142_abnormal_muscle_tone	0.55847122
87	MP0009379_abnormal_foot_pigmentation	0.54767779
88	MP0002083_premature_death	0.53880260
89	MP0002090_abnormal_vision	0.52944763
90	MP0003956_abnormal_body_size	0.51895928
91	MP0003868_abnormal_feces_composition	0.51021244
92	MP0004145_abnormal_muscle_electrophysio	0.49367857
93	MP0005646_abnormal_pituitary_gland	0.49046530
94	MP0000534_abnormal_ureter_morphology	0.48373467
95	MP0005220_abnormal_exocrine_pancreas	0.47660664
96	MP0001963_abnormal_hearing_physiology	0.46105322
97	MP0005171_absent_coat_pigmentation	0.45631855
98	MP0005535_abnormal_body_temperature	0.45426682
99	MP0002161_abnormal_fertility/fecundity	0.45240589
100	MP0010768_mortality/aging	0.44941379

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Febrile seizures (HP:0002373)	9.60605223
2	Dysmetric saccades (HP:0000641)	8.94436964
3	Action tremor (HP:0002345)	8.68835013
4	Scanning speech (HP:0002168)	8.44873655
5	Focal motor seizures (HP:0011153)	7.57732711
6	Myokymia (HP:0002411)	7.47263049
7	Absence seizures (HP:0002121)	7.36781716
8	Dysdiadochokinesis (HP:0002075)	6.76358179
9	Horizontal nystagmus (HP:0000666)	6.16162086
10	Epileptic encephalopathy (HP:0200134)	6.08125907
11	Progressive cerebellar ataxia (HP:0002073)	5.87685865
12	Gaze-evoked nystagmus (HP:0000640)	5.76590531
13	Dialeptic seizures (HP:0011146)	5.70702907
14	Postural tremor (HP:0002174)	5.69174673
15	Truncal ataxia (HP:0002078)	5.09654497
16	Intention tremor (HP:0002080)	4.94044907
17	Dysmetria (HP:0001310)	4.65913551
18	Impaired vibration sensation in the lower limbs (HP:0002166)	4.61165872
19	Focal seizures (HP:0007359)	4.60041073
20	Impaired smooth pursuit (HP:0007772)	4.58320995
21	Abnormality of saccadic eye movements (HP:0000570)	4.16410793
22	Broad-based gait (HP:0002136)	4.02386336
23	Abnormality of ocular smooth pursuit (HP:0000617)	3.81228212
24	Degeneration of the lateral corticospinal tracts (HP:0002314)	3.80703267
25	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	3.80703267
26	Generalized tonic-clonic seizures (HP:0002069)	3.37069402
27	Limb ataxia (HP:0002070)	3.27375389
28	Acute necrotizing encephalopathy (HP:0006965)	3.26160646
29	Abnormality of the corticospinal tract (HP:0002492)	3.24487448
30	Abnormal mitochondria in muscle tissue (HP:0008316)	2.99066357
31	Impaired vibratory sensation (HP:0002495)	2.85680327
32	Progressive macrocephaly (HP:0004481)	2.81277647
33	Status epilepticus (HP:0002133)	2.70586170
34	Gait ataxia (HP:0002066)	2.69978227
35	Acute encephalopathy (HP:0006846)	2.63521161
36	Autoamputation (HP:0001218)	2.55361701
37	Depression (HP:0000716)	2.42772830
38	Insidious onset (HP:0003587)	2.42194569
39	Termporal pattern (HP:0011008)	2.42194569
40	Increased serum pyruvate (HP:0003542)	2.39330251
41	Abnormality of glycolysis (HP:0004366)	2.26057615
42	Mitochondrial inheritance (HP:0001427)	2.24231935
43	Abnormality of the anterior horn cell (HP:0006802)	2.22260369
44	Degeneration of anterior horn cells (HP:0002398)	2.22260369
45	Cerebellar atrophy (HP:0001272)	2.10301787
46	Increased hepatocellular lipid droplets (HP:0006565)	2.09497689
47	Slow progression (HP:0003677)	2.04773139
48	Focal dystonia (HP:0004373)	2.03958917
49	Atonic seizures (HP:0010819)	10.2801390
50	Epileptiform EEG discharges (HP:0011182)	1.94235706
51	Cerebral edema (HP:0002181)	1.91469738
52	Amblyopia (HP:0000646)	1.90564148
53	EEG with generalized epileptiform discharges (HP:0011198)	1.86814852
54	Increased CSF lactate (HP:0002490)	1.83525631
55	Athetosis (HP:0002305)	1.81501896
56	Hyperlipoproteinemia (HP:0010980)	1.78847604
57	Lipid accumulation in hepatocytes (HP:0006561)	1.69499994
58	Leukodystrophy (HP:0002415)	1.68379287
59	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.66614997
60	Heterochromia iridis (HP:0001100)	1.66531868
61	Urinary urgency (HP:0000012)	1.63438113
62	Morphological abnormality of the pyramidal tract (HP:0002062)	1.62140529
63	Diplopia (HP:0000651)	1.61999054
64	Abnormality of binocular vision (HP:0011514)	1.61999054
65	Renal Fanconi syndrome (HP:0001994)	1.60562542
66	Hemiplegia (HP:0002301)	1.58377534
67	Cholecystitis (HP:0001082)	1.53249242
68	Abnormal gallbladder physiology (HP:0012438)	1.53249242
69	* Dysarthria (HP:0001260)	1.53028130
70	Spastic gait (HP:0002064)	1.51303139
71	Increased intramyocellular lipid droplets (HP:0012240)	1.49773189
72	Aplasia involving bones of the upper limbs (HP:0009823)	1.49248776
73	Aplasia of the phalanges of the hand (HP:0009802)	1.49248776
74	Aplasia involving bones of the extremities (HP:0009825)	1.49248776
75	Hemiparesis (HP:0001269)	1.48985589
76	Syncope (HP:0001279)	1.42697908
77	Esotropia (HP:0000565)	1.42514286
78	Incomplete penetrance (HP:0003829)	1.39514198
79	Poikilocytosis (HP:0004447)	1.36448932
80	Reticulocytosis (HP:0001923)	1.34181428
81	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.33958884
82	Exercise intolerance (HP:0003546)	1.32383047
83	Epidermoid cyst (HP:0200040)	1.31182583
84	Anxiety (HP:0000739)	1.30930664
85	X-linked dominant inheritance (HP:0001423)	1.29937775
86	Hypsarrhythmia (HP:0002521)	1.26223498
87	Postural instability (HP:0002172)	1.25923276
88	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.24959605
89	Abnormality of alanine metabolism (HP:0010916)	1.24959605
90	Hyperalaninemia (HP:0003348)	1.24959605
91	Ankle clonus (HP:0011448)	1.22534484
92	Urinary bladder sphincter dysfunction (HP:0002839)	1.22260606
93	Bradykinesia (HP:0002067)	1.21690021
94	Truncus arteriosus (HP:0001660)	1.20114915
95	Skin nodule (HP:0200036)	1.19943297
96	Unsteady gait (HP:0002317)	1.19717755
97	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.19280278
98	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.19280278
99	Optic disc pallor (HP:0000543)	1.19086835
100	Resting tremor (HP:0002322)	1.16965431

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K12	7.10756062
2	GRK5	4.89343941
3	NTRK3	3.81941068
4	TTK	3.77962498
5	MAP3K9	3.76178791
6	EIF2AK1	2.30940895
7	WNK1	2.18360756
8	CSNK1G2	2.12201311
9	ARAF	2.11748078
10	CSNK1G3	2.09855318
11	CSNK1A1L	2.03579051
12	CAMKK2	1.98604950
13	SCYL2	1.90266513
14	KSR2	1.87508485
15	MYLK	1.80295903
16	MINK1	1.75018661
17	CSNK1G1	1.62961020
18	PNCK	1.61577049
19	PRKCG	1.61195291
20	PTK6	1.56175368
21	BRAF	1.52625315
22	MAP3K4	1.49849735
23	TSSK6	1.40196059
24	PRKG2	1.39860169
25	PINK1	1.34045434
26	RAF1	1.32225689
27	CASK	1.32210147
28	PRKG1	1.32044321
29	MAP3K13	1.29835664
30	CAMK2A	1.25965717
31	KSR1	1.23407664
32	DAPK1	1.20847366
33	PDK1	1.19265568
34	NEK1	1.15815359
35	PAK4	1.13051051
36	EPHA4	1.02426028
37	CDK3	0.99591839
38	CHEK2	0.99417799
39	CAMKK1	0.95119588
40	MARK1	0.86435466
41	TESK1	0.84441920
42	CCNB1	0.82140855
43	PRKDC	0.78199244
44	CDK5	0.76111805
45	FYN	0.75168335
46	ILK	0.73354015
47	CSNK1A1	0.73271458
48	PLK2	0.69931910
49	WEE1	0.69667607
50	RPS6KA3	0.68880484
51	PRKCA	0.67564922
52	TAF1	0.67023493
53	CSNK1E	0.65615459
54	CAMK2B	0.63945547
55	SGK1	0.63629819
56	LATS2	0.62540471
57	NTRK2	0.59606856
58	ROCK2	0.59390725
59	DAPK2	0.59148502
60	MAP2K4	0.56888592
61	CLK1	0.56258160
62	RPS6KB1	0.56237617
63	MAP3K2	0.55700611
64	BUB1	0.53262281
65	MAP3K1	0.51666954
66	BRSK1	0.50724767
67	TRIM28	0.50723819
68	RIPK4	0.49303937
69	DAPK3	0.48321786
70	PRKACA	0.48275405
71	PRKCE	0.47742536
72	CSNK1D	0.47696832
73	MAP2K7	0.45650863
74	PRKCB	0.44922828
75	CDK18	0.43941565
76	PLK1	0.42830310
77	MAPK10	0.42786011
78	NME1	0.42204618
79	CAMK2D	0.41895632
80	CDK14	0.41688160
81	CDK15	0.41411010
82	WNK4	0.41398757
83	CDC7	0.41011901
84	CDK1	0.40922810
85	AKT3	0.39890914
86	CAMK2G	0.35479392
87	SRC	0.34972005
88	ATR	0.34521379
89	MAPK1	0.34423498
90	CDK11A	0.34379715
91	PLK4	0.33726059
92	BRSK2	0.32198820
93	BCR	0.31591211
94	ATM	0.30351939
95	PRKACG	0.30043116
96	MAP2K1	0.29892926
97	MTOR	0.27127616
98	PRKAA1	0.27046539
99	STK39	0.26675881
100	SGK2	0.26109661

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Long-term depression_Homo sapiens_hsa04730	4.22419969
2	Nicotine addiction_Homo sapiens_hsa05033	3.69086288
3	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	3.65235899
4	GABAergic synapse_Homo sapiens_hsa04727	3.60703090
5	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	3.53074354
6	Morphine addiction_Homo sapiens_hsa05032	3.14978034
7	Glutamatergic synapse_Homo sapiens_hsa04724	3.09826905
8	Long-term potentiation_Homo sapiens_hsa04720	2.86572187
9	Circadian entrainment_Homo sapiens_hsa04713	2.79908259
10	Taste transduction_Homo sapiens_hsa04742	2.51002548
11	Oxidative phosphorylation_Homo sapiens_hsa00190	2.13344665
12	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	2.06838574
13	Dopaminergic synapse_Homo sapiens_hsa04728	2.02549049
14	Alzheimers disease_Homo sapiens_hsa05010	1.97035111
15	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.93685116
16	Salivary secretion_Homo sapiens_hsa04970	1.88541319
17	Serotonergic synapse_Homo sapiens_hsa04726	1.88161822
18	Pentose phosphate pathway_Homo sapiens_hsa00030	1.83874429
19	Parkinsons disease_Homo sapiens_hsa05012	1.82822973
20	Cholinergic synapse_Homo sapiens_hsa04725	1.82492164
21	Gastric acid secretion_Homo sapiens_hsa04971	1.72089041
22	Cardiac muscle contraction_Homo sapiens_hsa04260	1.68568152
23	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.66987726
24	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.61603183
25	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.59045644
26	Pancreatic secretion_Homo sapiens_hsa04972	1.56697450
27	Gap junction_Homo sapiens_hsa04540	1.54422337
28	Renin secretion_Homo sapiens_hsa04924	1.46649351
29	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.44707947
30	Huntingtons disease_Homo sapiens_hsa05016	1.44189365
31	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.43584298
32	Calcium signaling pathway_Homo sapiens_hsa04020	1.38554527
33	Amphetamine addiction_Homo sapiens_hsa05031	1.37181067
34	Estrogen signaling pathway_Homo sapiens_hsa04915	1.32560211
35	* Nitrogen metabolism_Homo sapiens_hsa00910	1.24919052
36	Olfactory transduction_Homo sapiens_hsa04740	1.21912040
37	Circadian rhythm_Homo sapiens_hsa04710	1.20974957
38	Insulin secretion_Homo sapiens_hsa04911	1.18798535
39	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.13460974
40	Oocyte meiosis_Homo sapiens_hsa04114	1.10423877
41	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.98681598
42	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.90785136
43	Pyruvate metabolism_Homo sapiens_hsa00620	0.88275467
44	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.86373347
45	Renin-angiotensin system_Homo sapiens_hsa04614	0.85393856
46	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.81833428
47	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.77075587
48	Carbon metabolism_Homo sapiens_hsa01200	0.76802071
49	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.75975055
50	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.73807315
51	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.73233220
52	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.66411436
53	Collecting duct acid secretion_Homo sapiens_hsa04966	0.64275225
54	Cocaine addiction_Homo sapiens_hsa05030	0.62408146
55	African trypanosomiasis_Homo sapiens_hsa05143	0.59834844
56	Protein export_Homo sapiens_hsa03060	0.59762796
57	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.58890049
58	Glioma_Homo sapiens_hsa05214	0.57950164
59	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.55887095
60	GnRH signaling pathway_Homo sapiens_hsa04912	0.55230604
61	Type II diabetes mellitus_Homo sapiens_hsa04930	0.52670809
62	Choline metabolism in cancer_Homo sapiens_hsa05231	0.51221582
63	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.51091333
64	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.47821790
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.45280191
66	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.45082401
67	mTOR signaling pathway_Homo sapiens_hsa04150	0.44798982
68	Fatty acid elongation_Homo sapiens_hsa00062	0.44355964
69	Melanogenesis_Homo sapiens_hsa04916	0.43803979
70	Glucagon signaling pathway_Homo sapiens_hsa04922	0.43304738
71	Mineral absorption_Homo sapiens_hsa04978	0.40896240
72	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.39914120
73	Prion diseases_Homo sapiens_hsa05020	0.39621773
74	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.35976976
75	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.34901091
76	Alcoholism_Homo sapiens_hsa05034	0.34053344
77	cAMP signaling pathway_Homo sapiens_hsa04024	0.32523376
78	Non-small cell lung cancer_Homo sapiens_hsa05223	0.32025293
79	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.31525934
80	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.29396052
81	Folate biosynthesis_Homo sapiens_hsa00790	0.28119572
82	VEGF signaling pathway_Homo sapiens_hsa04370	0.28063810
83	ErbB signaling pathway_Homo sapiens_hsa04012	0.26576457
84	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.25128436
85	Regulation of autophagy_Homo sapiens_hsa04140	0.24219569
86	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.18642035
87	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.17288946
88	Vibrio cholerae infection_Homo sapiens_hsa05110	0.16796592
89	Fatty acid metabolism_Homo sapiens_hsa01212	0.15515021
90	MAPK signaling pathway_Homo sapiens_hsa04010	0.14733799
91	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.13853133
92	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.13494965
93	Ras signaling pathway_Homo sapiens_hsa04014	0.12950941
94	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.12187397
95	Butanoate metabolism_Homo sapiens_hsa00650	0.10815213
96	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.10738595
97	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.08752911
98	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.07913210
99	Metabolic pathways_Homo sapiens_hsa01100	0.07596685
100	Cell cycle_Homo sapiens_hsa04110	0.06093797

CA8

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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