ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.57580867
2	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.57580867
3	NADH dehydrogenase complex assembly (GO:0010257)	5.57580867
4	protein complex biogenesis (GO:0070271)	5.42555131
5	gamma-aminobutyric acid transport (GO:0015812)	5.23963667
6	protein-cofactor linkage (GO:0018065)	4.99381467
7	mitochondrial respiratory chain complex assembly (GO:0033108)	4.97956346
8	negative regulation of synaptic transmission, GABAergic (GO:0032229)	4.85850584
9	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.84590178
10	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.46154656
11	chaperone-mediated protein transport (GO:0072321)	4.34023016
12	regulation of mitochondrial translation (GO:0070129)	4.22946108
13	positive regulation of mitochondrial fission (GO:0090141)	4.20577311
14	protein neddylation (GO:0045116)	4.09301089
15	sequestering of actin monomers (GO:0042989)	4.07774964
16	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.06881493
17	respiratory electron transport chain (GO:0022904)	4.05224367
18	electron transport chain (GO:0022900)	3.98220471
19	neurofilament cytoskeleton organization (GO:0060052)	3.97137312
20	establishment of mitochondrion localization (GO:0051654)	3.94959200
21	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.92706142
22	pyrimidine nucleobase catabolic process (GO:0006208)	3.83489658
23	DNA damage response, detection of DNA damage (GO:0042769)	3.80119773
24	respiratory chain complex IV assembly (GO:0008535)	3.78093573
25	proteasome assembly (GO:0043248)	3.68820321
26	pyrimidine nucleotide catabolic process (GO:0006244)	3.57026655
27	base-excision repair, AP site formation (GO:0006285)	3.56482838
28	ATP hydrolysis coupled proton transport (GO:0015991)	3.55062256
29	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	3.55062256
30	ATP synthesis coupled proton transport (GO:0015986)	3.55048009
31	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.55048009
32	cytochrome complex assembly (GO:0017004)	3.52390112
33	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.44202257
34	water-soluble vitamin biosynthetic process (GO:0042364)	3.44032880
35	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.41325863
36	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.39230798
37	termination of RNA polymerase III transcription (GO:0006386)	3.39230798
38	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	3.31718702
39	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	3.31718702
40	negative regulation of membrane potential (GO:0045837)	3.29100322
41	protein localization to mitochondrion (GO:0070585)	3.27441814
42	negative regulation of heart rate (GO:0010459)	3.21633522
43	protein localization to synapse (GO:0035418)	3.21108672
44	protein targeting to mitochondrion (GO:0006626)	3.19804679
45	de novo posttranslational protein folding (GO:0051084)	3.13503999
46	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	3.12571943
47	synaptic transmission, glutamatergic (GO:0035249)	3.12030163
48	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.07808786
49	protein polyglutamylation (GO:0018095)	3.05939421
50	establishment of protein localization to mitochondrion (GO:0072655)	3.04523253
51	ionotropic glutamate receptor signaling pathway (GO:0035235)	3.02331503
52	hydrogen ion transmembrane transport (GO:1902600)	3.01920438
53	de novo protein folding (GO:0006458)	2.99514381
54	nucleobase catabolic process (GO:0046113)	2.99341634
55	glutamate receptor signaling pathway (GO:0007215)	2.86453682
56	deoxyribonucleotide catabolic process (GO:0009264)	2.86424229
57	L-methionine salvage (GO:0071267)	2.86155964
58	L-methionine biosynthetic process (GO:0071265)	2.86155964
59	amino acid salvage (GO:0043102)	2.86155964
60	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.84349828
61	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.84349828
62	proton transport (GO:0015992)	2.82938483
63	cullin deneddylation (GO:0010388)	2.78480050
64	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.78104024
65	substrate-independent telencephalic tangential migration (GO:0021826)	2.78104024
66	regulation of cellular respiration (GO:0043457)	2.77019852
67	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.76517322
68	protein insertion into membrane (GO:0051205)	2.76386401
69	regulation of feeding behavior (GO:0060259)	2.76218602
70	synaptic vesicle exocytosis (GO:0016079)	2.75841733
71	hydrogen transport (GO:0006818)	2.75616194
72	regulation of cilium movement (GO:0003352)	2.74948375
73	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.72061877
74	fucose catabolic process (GO:0019317)	2.71629038
75	L-fucose metabolic process (GO:0042354)	2.71629038
76	L-fucose catabolic process (GO:0042355)	2.71629038
77	peroxisome fission (GO:0016559)	2.71500814
78	guanosine-containing compound biosynthetic process (GO:1901070)	2.70977808
79	protein deneddylation (GO:0000338)	2.69055161
80	GMP metabolic process (GO:0046037)	2.67363623
81	ribonucleoprotein complex disassembly (GO:0032988)	2.66168939
82	platelet dense granule organization (GO:0060155)	2.65664192
83	metallo-sulfur cluster assembly (GO:0031163)	2.62575072
84	iron-sulfur cluster assembly (GO:0016226)	2.62575072
85	organelle disassembly (GO:1903008)	2.60422085
86	DNA double-strand break processing (GO:0000729)	2.60217043
87	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	2.57788937
88	mitochondrion transport along microtubule (GO:0047497)	2.57788937
89	regulation of mitochondrial fission (GO:0090140)	2.57307764
90	pseudouridine synthesis (GO:0001522)	2.56212686
91	deoxyribose phosphate catabolic process (GO:0046386)	2.56138959
92	piRNA metabolic process (GO:0034587)	2.55906832
93	GTP biosynthetic process (GO:0006183)	2.55794668
94	response to pheromone (GO:0019236)	2.55698150
95	negative regulation of response to food (GO:0032096)	2.54863849
96	negative regulation of appetite (GO:0032099)	2.54863849
97	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.53900288
98	response to auditory stimulus (GO:0010996)	2.53222247
99	anterograde axon cargo transport (GO:0008089)	2.53214398
100	response to dietary excess (GO:0002021)	2.52366896

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.13867976
2	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.74932429
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.67694212
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.46092089
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.44564694
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.14046087
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.01680829
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.93028361
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.83932758
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.74720824
11	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.68786067
12	EZH2_22144423_ChIP-Seq_EOC_Human	2.58612808
13	GBX2_23144817_ChIP-Seq_PC3_Human	2.27432991
14	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.27046547
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.25495698
16	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.25263879
17	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.21517295
18	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.20245619
19	VDR_23849224_ChIP-Seq_CD4+_Human	2.07006893
20	GABP_19822575_ChIP-Seq_HepG2_Human	1.97962980
21	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.96993025
22	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.90531732
23	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.83085032
24	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.77888676
25	DCP1A_22483619_ChIP-Seq_HELA_Human	1.76636942
26	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.75243165
27	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.73994464
28	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.71218800
29	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.67416352
30	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.66924582
31	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.63496502
32	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.55937464
33	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.55079867
34	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.53996467
35	RNF2_27304074_Chip-Seq_NSC_Mouse	1.50476985
36	REST_21632747_ChIP-Seq_MESCs_Mouse	1.50391233
37	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.49667562
38	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.49280546
39	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.49122859
40	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.47783753
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.47049971
42	XRN2_22483619_ChIP-Seq_HELA_Human	1.46411030
43	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.45894370
44	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.45827857
45	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.43596273
46	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.41929021
47	ELK1_19687146_ChIP-ChIP_HELA_Human	1.41675134
48	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.41200375
49	FOXP3_21729870_ChIP-Seq_TREG_Human	1.39641027
50	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.39271188
51	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.33114074
52	TTF2_22483619_ChIP-Seq_HELA_Human	1.31273055
53	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.30949374
54	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.30381586
55	IRF1_19129219_ChIP-ChIP_H3396_Human	1.27997933
56	FUS_26573619_Chip-Seq_HEK293_Human	1.27839396
57	EWS_26573619_Chip-Seq_HEK293_Human	1.27156470
58	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25542278
59	P300_19829295_ChIP-Seq_ESCs_Human	1.22088422
60	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.21130464
61	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.19288039
62	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.19042112
63	TP53_22573176_ChIP-Seq_HFKS_Human	1.17698234
64	TAF15_26573619_Chip-Seq_HEK293_Human	1.17448990
65	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.16966985
66	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.16560325
67	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.15029003
68	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.14738704
69	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.12628284
70	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.10039522
71	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.08379808
72	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.07255851
73	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.06774817
74	JUN_21703547_ChIP-Seq_K562_Human	1.04413741
75	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.04052419
76	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.03925708
77	IGF1R_20145208_ChIP-Seq_DFB_Human	1.03745223
78	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.03073415
79	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.03042190
80	VDR_22108803_ChIP-Seq_LS180_Human	1.02653100
81	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.02402292
82	NCOR_22424771_ChIP-Seq_293T_Human	1.00146261
83	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.99797767
84	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.99615695
85	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.99227337
86	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.99003299
87	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.98570015
88	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.92549770
89	CBP_20019798_ChIP-Seq_JUKART_Human	0.92549770
90	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.91561376
91	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.91211524
92	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.89945902
93	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.88450746
94	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.88137969
95	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.86743996
96	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.83981558
97	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.83730492
98	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.83245786
99	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.82387686
100	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.81947310

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002822_catalepsy	4.31121360
2	MP0002102_abnormal_ear_morphology	4.07748560
3	MP0003122_maternal_imprinting	3.26456826
4	MP0001529_abnormal_vocalization	3.08949710
5	MP0004859_abnormal_synaptic_plasticity	2.77956555
6	MP0003121_genomic_imprinting	2.61057332
7	MP0008877_abnormal_DNA_methylation	2.52475270
8	MP0003880_abnormal_central_pattern	2.46667642
9	MP0009046_muscle_twitch	2.44573060
10	MP0004142_abnormal_muscle_tone	2.21459047
11	MP0009745_abnormal_behavioral_response	2.18590429
12	MP0004270_analgesia	2.18003534
13	MP0002272_abnormal_nervous_system	2.08797941
14	MP0003635_abnormal_synaptic_transmissio	2.04484046
15	MP0006276_abnormal_autonomic_nervous	2.02131182
16	MP0001486_abnormal_startle_reflex	1.98511560
17	MP0004147_increased_porphyrin_level	1.89818203
18	MP0001984_abnormal_olfaction	1.89407403
19	MP0003787_abnormal_imprinting	1.82049071
20	MP0000049_abnormal_middle_ear	1.80555354
21	MP0005499_abnormal_olfactory_system	1.76830364
22	MP0005394_taste/olfaction_phenotype	1.76830364
23	MP0002572_abnormal_emotion/affect_behav	1.75685058
24	MP0002064_seizures	1.74254006
25	MP0005423_abnormal_somatic_nervous	1.69116615
26	MP0001905_abnormal_dopamine_level	1.67579959
27	MP0002733_abnormal_thermal_nociception	1.63163431
28	MP0003693_abnormal_embryo_hatching	1.60035221
29	MP0001968_abnormal_touch/_nociception	1.58603568
30	MP0002063_abnormal_learning/memory/cond	1.58015368
31	MP0008058_abnormal_DNA_repair	1.57366041
32	MP0002735_abnormal_chemical_nociception	1.55265727
33	MP0002734_abnormal_mechanical_nocicepti	1.50088922
34	MP0001986_abnormal_taste_sensitivity	1.47489180
35	MP0003718_maternal_effect	1.47419267
36	MP0006036_abnormal_mitochondrial_physio	1.47107229
37	MP0004924_abnormal_behavior	1.45746990
38	MP0005386_behavior/neurological_phenoty	1.45746990
39	MP0008789_abnormal_olfactory_epithelium	1.44955203
40	MP0002653_abnormal_ependyma_morphology	1.43637913
41	MP0002837_dystrophic_cardiac_calcinosis	1.43633344
42	MP0006035_abnormal_mitochondrial_morpho	1.42710034
43	MP0001188_hyperpigmentation	1.40018157
44	MP0001970_abnormal_pain_threshold	1.39456828
45	MP0008875_abnormal_xenobiotic_pharmacok	1.36496041
46	MP0008995_early_reproductive_senescence	1.32443807
47	MP0005084_abnormal_gallbladder_morpholo	1.30876802
48	MP0002184_abnormal_innervation	1.30238396
49	MP0004811_abnormal_neuron_physiology	1.29030173
50	MP0002751_abnormal_autonomic_nervous	1.28567572
51	MP0002557_abnormal_social/conspecific_i	1.27874823
52	MP0000566_synostosis	1.27677986
53	MP0001764_abnormal_homeostasis	1.26355860
54	MP0000631_abnormal_neuroendocrine_gland	1.25009891
55	MP0005551_abnormal_eye_electrophysiolog	1.24012733
56	MP0002736_abnormal_nociception_after	1.23876326
57	MP0002638_abnormal_pupillary_reflex	1.20725221
58	MP0000778_abnormal_nervous_system	1.16448983
59	MP0005646_abnormal_pituitary_gland	1.16439597
60	MP0000749_muscle_degeneration	1.11118508
61	MP0003567_abnormal_fetal_cardiomyocyte	1.09137052
62	MP0003806_abnormal_nucleotide_metabolis	1.08415260
63	MP0003646_muscle_fatigue	1.07214018
64	MP0000026_abnormal_inner_ear	1.05492600
65	MP0006072_abnormal_retinal_apoptosis	1.04516366
66	MP0002876_abnormal_thyroid_physiology	1.03622101
67	MP0001440_abnormal_grooming_behavior	1.03315501
68	MP0003786_premature_aging	1.02704960
69	MP0000751_myopathy	0.99822178
70	MP0003186_abnormal_redox_activity	0.99794885
71	MP0002067_abnormal_sensory_capabilities	0.99596533
72	MP0002752_abnormal_somatic_nervous	0.99390121
73	MP0002282_abnormal_trachea_morphology	0.98021966
74	MP0002332_abnormal_exercise_endurance	0.96917693
75	MP0004885_abnormal_endolymph	0.96354194
76	MP0005253_abnormal_eye_physiology	0.95909296
77	MP0002882_abnormal_neuron_morphology	0.95544849
78	MP0004133_heterotaxia	0.94975612
79	MP0005645_abnormal_hypothalamus_physiol	0.93857929
80	MP0002234_abnormal_pharynx_morphology	0.91983692
81	MP0000955_abnormal_spinal_cord	0.91692504
82	MP0002066_abnormal_motor_capabilities/c	0.91265519
83	MP0002277_abnormal_respiratory_mucosa	0.91235500
84	MP0004134_abnormal_chest_morphology	0.90251386
85	MP0008872_abnormal_physiological_respon	0.89399812
86	MP0003221_abnormal_cardiomyocyte_apopto	0.83382658
87	MP0001485_abnormal_pinna_reflex	0.83345869
88	MP0004215_abnormal_myocardial_fiber	0.80430754
89	MP0001177_atelectasis	0.78776409
90	MP0001963_abnormal_hearing_physiology	0.77918192
91	MP0002210_abnormal_sex_determination	0.77356391
92	MP0003698_abnormal_male_reproductive	0.76009412
93	MP0002069_abnormal_eating/drinking_beha	0.75356138
94	MP0001929_abnormal_gametogenesis	0.74199157
95	MP0001270_distended_abdomen	0.71179422
96	MP0005266_abnormal_metabolism	0.71159084
97	MP0004782_abnormal_surfactant_physiolog	0.70947883
98	MP0002152_abnormal_brain_morphology	0.70164640
99	MP0002229_neurodegeneration	0.66553637
100	MP0000647_abnormal_sebaceous_gland	0.66222926

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.24439043
2	Abnormal mitochondria in muscle tissue (HP:0008316)	5.05432749
3	Acute encephalopathy (HP:0006846)	4.57166190
4	Progressive macrocephaly (HP:0004481)	4.41967842
5	Mitochondrial inheritance (HP:0001427)	4.35048052
6	Increased CSF lactate (HP:0002490)	3.92925887
7	Hepatocellular necrosis (HP:0001404)	3.82906416
8	Hepatic necrosis (HP:0002605)	3.41640836
9	Increased hepatocellular lipid droplets (HP:0006565)	3.39383324
10	Abnormality of the labia minora (HP:0012880)	3.35113744
11	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.32703116
12	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.32703116
13	Cerebral edema (HP:0002181)	3.11960502
14	Polyphagia (HP:0002591)	3.07968960
15	Renal Fanconi syndrome (HP:0001994)	3.06316703
16	Ulnar claw (HP:0001178)	3.05193704
17	3-Methylglutaconic aciduria (HP:0003535)	3.04532715
18	Limb dystonia (HP:0002451)	2.99503151
19	Increased intramyocellular lipid droplets (HP:0012240)	2.98966626
20	Nephrogenic diabetes insipidus (HP:0009806)	2.97883808
21	Lipid accumulation in hepatocytes (HP:0006561)	2.96093217
22	Gait imbalance (HP:0002141)	2.88148220
23	Methylmalonic acidemia (HP:0002912)	2.87414721
24	Cerebral hypomyelination (HP:0006808)	2.78072657
25	Medial flaring of the eyebrow (HP:0010747)	2.76759036
26	Leukodystrophy (HP:0002415)	2.76430192
27	Synostosis involving the elbow (HP:0003938)	2.75959754
28	Humeroradial synostosis (HP:0003041)	2.75959754
29	Myokymia (HP:0002411)	2.74549051
30	Lactic acidosis (HP:0003128)	2.72324002
31	Hyperglycinemia (HP:0002154)	2.66954500
32	Congenital primary aphakia (HP:0007707)	2.66591905
33	Lissencephaly (HP:0001339)	2.64533612
34	Retinal dysplasia (HP:0007973)	2.55051442
35	Increased serum lactate (HP:0002151)	2.50448650
36	Optic disc pallor (HP:0000543)	2.50015160
37	Methylmalonic aciduria (HP:0012120)	2.49843631
38	Poor suck (HP:0002033)	2.47106819
39	Focal motor seizures (HP:0011153)	2.40560657
40	Increased muscle lipid content (HP:0009058)	2.37907013
41	Respiratory failure (HP:0002878)	2.35201089
42	Failure to thrive in infancy (HP:0001531)	2.32681746
43	Exercise intolerance (HP:0003546)	2.30663877
44	Cortical dysplasia (HP:0002539)	2.27944787
45	Hypsarrhythmia (HP:0002521)	2.24926889
46	Epileptic encephalopathy (HP:0200134)	2.23184370
47	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.21242150
48	Epileptiform EEG discharges (HP:0011182)	2.16197727
49	Split foot (HP:0001839)	2.14457102
50	Inability to walk (HP:0002540)	2.13198000
51	EEG with generalized epileptiform discharges (HP:0011198)	2.12149556
52	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.10555019
53	Hypoplasia of the brainstem (HP:0002365)	2.10555019
54	Shoulder girdle muscle weakness (HP:0003547)	2.09698812
55	Vaginal atresia (HP:0000148)	2.08975438
56	Specific learning disability (HP:0001328)	2.08657162
57	Emotional lability (HP:0000712)	2.06728898
58	Glycosuria (HP:0003076)	2.05496992
59	Abnormality of urine glucose concentration (HP:0011016)	2.05496992
60	Short tibia (HP:0005736)	2.04964505
61	Progressive microcephaly (HP:0000253)	2.03893322
62	Genital tract atresia (HP:0001827)	2.01693880
63	CNS demyelination (HP:0007305)	2.01341890
64	Oligomenorrhea (HP:0000876)	1.98789645
65	X-linked dominant inheritance (HP:0001423)	1.98149552
66	Esotropia (HP:0000565)	1.97969128
67	Ankle clonus (HP:0011448)	1.97578249
68	Thyroid-stimulating hormone excess (HP:0002925)	1.96436009
69	Type II lissencephaly (HP:0007260)	1.96285558
70	Exertional dyspnea (HP:0002875)	1.95100531
71	Muscular hypotonia of the trunk (HP:0008936)	1.93669288
72	Respiratory difficulties (HP:0002880)	1.93462046
73	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.92592643
74	Lethargy (HP:0001254)	1.90946591
75	Aplasia/hypoplasia of the uterus (HP:0008684)	1.90744222
76	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.88821420
77	Microretrognathia (HP:0000308)	1.88226678
78	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.88156975
79	Renal tubular dysfunction (HP:0000124)	1.85897356
80	Pendular nystagmus (HP:0012043)	1.84571082
81	Pachygyria (HP:0001302)	1.83806180
82	Spastic tetraplegia (HP:0002510)	1.83770975
83	Hypoplasia of the uterus (HP:0000013)	1.80759618
84	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.79816000
85	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.79508265
86	Abnormality of alanine metabolism (HP:0010916)	1.79508265
87	Hyperalaninemia (HP:0003348)	1.79508265
88	Anophthalmia (HP:0000528)	1.79281897
89	Abnormality of the hip-girdle musculature (HP:0001445)	1.79125403
90	Abnormality of the musculature of the pelvis (HP:0001469)	1.79125403
91	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.77846445
92	Abnormality of renal resorption (HP:0011038)	1.77112457
93	Drooling (HP:0002307)	1.77078437
94	Abnormal eating behavior (HP:0100738)	1.75632898
95	Generalized aminoaciduria (HP:0002909)	1.72626709
96	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.72249284
97	Amyotrophic lateral sclerosis (HP:0007354)	1.71729885
98	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.71635167
99	Hypothermia (HP:0002045)	1.71349069
100	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.70572986

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	3.23613469
2	MARK1	3.04861176
3	MAP2K7	3.02928049
4	MAP4K2	2.97053875
5	LIMK1	2.78382282
6	TRIM28	2.72210109
7	EPHA4	2.53515481
8	BUB1	2.41295197
9	CSNK1G3	2.34967332
10	BCKDK	2.31349647
11	BCR	2.25783554
12	SIK2	2.20979328
13	CSNK1G1	2.13990139
14	MINK1	2.12623513
15	CSNK1G2	2.10532716
16	CSNK1A1L	2.10084603
17	TESK1	2.09860736
18	DYRK2	2.06106007
19	CASK	1.98421424
20	VRK2	1.90851564
21	TESK2	1.75149665
22	MAP3K4	1.74758638
23	PIM2	1.71279838
24	GRK1	1.65712195
25	MAPK13	1.63537725
26	NME2	1.61726543
27	TIE1	1.60997832
28	SRPK1	1.60628954
29	TSSK6	1.37092736
30	ADRBK2	1.34348241
31	INSRR	1.30639570
32	PRKCG	1.30533059
33	WNK3	1.26834828
34	MAPKAPK3	1.26734538
35	STK16	1.11099480
36	CCNB1	1.05002965
37	ERBB3	1.04748954
38	OXSR1	1.04461883
39	NTRK2	1.03386637
40	RPS6KA5	1.01548151
41	PLK2	1.00997224
42	VRK1	0.95619950
43	DAPK1	0.95525135
44	RPS6KA4	0.94868136
45	TAOK3	0.94247143
46	MAP3K12	0.93178422
47	PLK4	0.93127597
48	NEK1	0.92654571
49	PHKG2	0.92578148
50	PHKG1	0.92578148
51	CAMK2B	0.92375986
52	NUAK1	0.90354395
53	BMPR1B	0.85217328
54	CDK5	0.82265564
55	CDK19	0.79695257
56	PDK2	0.79495476
57	DYRK1A	0.79461119
58	CAMK2G	0.79105262
59	AURKA	0.74485886
60	PRKCE	0.73985890
61	CAMK2A	0.73872378
62	CDK14	0.72634316
63	PBK	0.70783410
64	MAP2K4	0.69973978
65	DYRK3	0.69344409
66	CSNK1A1	0.67290557
67	PAK6	0.66581623
68	PAK3	0.63350998
69	CDC7	0.61680654
70	WEE1	0.56254813
71	EIF2AK1	0.55639191
72	ARAF	0.54887591
73	CDK18	0.52306389
74	DYRK1B	0.51095221
75	PRKCI	0.50871773
76	KDR	0.46502693
77	CAMK2D	0.46451439
78	PKN1	0.46282681
79	CDK15	0.46050509
80	MAPKAPK5	0.45876673
81	PRKACA	0.45493500
82	CSNK2A1	0.43646962
83	EGFR	0.43646670
84	CDK11A	0.43024435
85	MST4	0.41471610
86	PLK1	0.41266288
87	LMTK2	0.40866083
88	UHMK1	0.40567344
89	CDK3	0.40288504
90	NEK2	0.38053216
91	PNCK	0.37856366
92	AURKB	0.36517971
93	GRK7	0.35932013
94	CSNK2A2	0.35590832
95	PLK3	0.35310177
96	CSNK1E	0.35193420
97	FLT3	0.32446970
98	PRKACB	0.30631788
99	PRKCZ	0.30409405
100	TLK1	0.28792181

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.66072384
2	Parkinsons disease_Homo sapiens_hsa05012	3.84052248
3	Protein export_Homo sapiens_hsa03060	2.96563543
4	Nicotine addiction_Homo sapiens_hsa05033	2.90116676
5	Collecting duct acid secretion_Homo sapiens_hsa04966	2.75615047
6	Huntingtons disease_Homo sapiens_hsa05016	2.71044366
7	Alzheimers disease_Homo sapiens_hsa05010	2.65630813
8	Proteasome_Homo sapiens_hsa03050	2.47481643
9	RNA polymerase_Homo sapiens_hsa03020	2.33934941
10	Cardiac muscle contraction_Homo sapiens_hsa04260	2.29235127
11	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.14117073
12	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.05763827
13	Phototransduction_Homo sapiens_hsa04744	2.02800663
14	Vibrio cholerae infection_Homo sapiens_hsa05110	1.76184721
15	GABAergic synapse_Homo sapiens_hsa04727	1.62951049
16	Ribosome_Homo sapiens_hsa03010	1.53520348
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.48405686
18	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.48057756
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.42887919
20	Basal transcription factors_Homo sapiens_hsa03022	1.38448938
21	Steroid biosynthesis_Homo sapiens_hsa00100	1.36063844
22	Base excision repair_Homo sapiens_hsa03410	1.34983488
23	Pyrimidine metabolism_Homo sapiens_hsa00240	1.34848495
24	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.32688564
25	Spliceosome_Homo sapiens_hsa03040	1.32659361
26	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.31648408
27	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.31271221
28	Fanconi anemia pathway_Homo sapiens_hsa03460	1.31091073
29	Taste transduction_Homo sapiens_hsa04742	1.29908208
30	RNA degradation_Homo sapiens_hsa03018	1.28848843
31	Morphine addiction_Homo sapiens_hsa05032	1.25809931
32	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.22112112
33	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.14447371
34	DNA replication_Homo sapiens_hsa03030	1.12844959
35	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.12813671
36	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.12171196
37	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.10790890
38	Mismatch repair_Homo sapiens_hsa03430	1.08557742
39	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.08400313
40	Fatty acid elongation_Homo sapiens_hsa00062	1.07533291
41	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.06668222
42	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.06149197
43	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.02915429
44	Glutamatergic synapse_Homo sapiens_hsa04724	1.01334357
45	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.97663958
46	Purine metabolism_Homo sapiens_hsa00230	0.94944423
47	Dopaminergic synapse_Homo sapiens_hsa04728	0.93057930
48	Sulfur metabolism_Homo sapiens_hsa00920	0.88017321
49	Regulation of autophagy_Homo sapiens_hsa04140	0.86778851
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.85922497
51	Selenocompound metabolism_Homo sapiens_hsa00450	0.85917218
52	Homologous recombination_Homo sapiens_hsa03440	0.82555652
53	Metabolic pathways_Homo sapiens_hsa01100	0.81901809
54	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.80907223
55	Cocaine addiction_Homo sapiens_hsa05030	0.80488841
56	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.79807821
57	RNA transport_Homo sapiens_hsa03013	0.79514890
58	Circadian entrainment_Homo sapiens_hsa04713	0.77810774
59	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.76736271
60	Pyruvate metabolism_Homo sapiens_hsa00620	0.76191666
61	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.74201315
62	Olfactory transduction_Homo sapiens_hsa04740	0.73945451
63	Propanoate metabolism_Homo sapiens_hsa00640	0.71822447
64	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.70655241
65	One carbon pool by folate_Homo sapiens_hsa00670	0.70654115
66	Peroxisome_Homo sapiens_hsa04146	0.70467997
67	Ether lipid metabolism_Homo sapiens_hsa00565	0.68700806
68	Amphetamine addiction_Homo sapiens_hsa05031	0.66952882
69	Butanoate metabolism_Homo sapiens_hsa00650	0.63893147
70	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.62248688
71	Nucleotide excision repair_Homo sapiens_hsa03420	0.60336250
72	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.59585924
73	Linoleic acid metabolism_Homo sapiens_hsa00591	0.57592463
74	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.54596121
75	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.53727512
76	Oocyte meiosis_Homo sapiens_hsa04114	0.53189748
77	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.52451630
78	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.52026944
79	Sulfur relay system_Homo sapiens_hsa04122	0.51415007
80	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.50269477
81	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49167009
82	mRNA surveillance pathway_Homo sapiens_hsa03015	0.49142371
83	Salivary secretion_Homo sapiens_hsa04970	0.48781972
84	Caffeine metabolism_Homo sapiens_hsa00232	0.47957444
85	Serotonergic synapse_Homo sapiens_hsa04726	0.46601506
86	Non-homologous end-joining_Homo sapiens_hsa03450	0.45914204
87	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.43057688
88	Alcoholism_Homo sapiens_hsa05034	0.41945523
89	Carbon metabolism_Homo sapiens_hsa01200	0.41104413
90	Folate biosynthesis_Homo sapiens_hsa00790	0.41070058
91	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.40966768
92	Chemical carcinogenesis_Homo sapiens_hsa05204	0.39729743
93	Phagosome_Homo sapiens_hsa04145	0.38070856
94	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.37625350
95	Rheumatoid arthritis_Homo sapiens_hsa05323	0.37126266
96	Insulin secretion_Homo sapiens_hsa04911	0.34689477
97	Tryptophan metabolism_Homo sapiens_hsa00380	0.33013643
98	Tyrosine metabolism_Homo sapiens_hsa00350	0.31442992
99	Fatty acid metabolism_Homo sapiens_hsa01212	0.30659692
100	beta-Alanine metabolism_Homo sapiens_hsa00410	0.29573598

TUBB4AP1

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)

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