ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	pyrimidine nucleobase catabolic process (GO:0006208)	6.63472026
2	sequestering of actin monomers (GO:0042989)	5.39293445
3	nucleobase catabolic process (GO:0046113)	5.18368981
4	response to pheromone (GO:0019236)	4.66479216
5	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.41745339
6	protein complex biogenesis (GO:0070271)	4.02426154
7	behavioral response to nicotine (GO:0035095)	3.92214513
8	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.89544596
9	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.89544596
10	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.85916332
11	ovulation cycle (GO:0042698)	3.84847422
12	ATP synthesis coupled proton transport (GO:0015986)	3.81646904
13	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.81646904
14	maturation of 5.8S rRNA (GO:0000460)	3.81556650
15	DNA integration (GO:0015074)	3.76645644
16	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.73874709
17	gamma-aminobutyric acid transport (GO:0015812)	3.67860668
18	mitochondrial respiratory chain complex assembly (GO:0033108)	3.66446800
19	GTP biosynthetic process (GO:0006183)	3.65560733
20	NADH dehydrogenase complex assembly (GO:0010257)	3.64727753
21	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.64727753
22	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.64727753
23	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.62058849
24	proteasome assembly (GO:0043248)	3.60576486
25	spinal cord association neuron differentiation (GO:0021527)	3.59880355
26	respiratory electron transport chain (GO:0022904)	3.49729436
27	chaperone-mediated protein transport (GO:0072321)	3.44169167
28	electron transport chain (GO:0022900)	3.43817882
29	regulation of development, heterochronic (GO:0040034)	3.42838460
30	DNA ligation (GO:0006266)	3.41749423
31	transmission of nerve impulse (GO:0019226)	3.34019261
32	rRNA catabolic process (GO:0016075)	3.32456470
33	negative regulation of oligodendrocyte differentiation (GO:0048715)	3.28213228
34	iron-sulfur cluster assembly (GO:0016226)	3.18136864
35	metallo-sulfur cluster assembly (GO:0031163)	3.18136864
36	guanosine-containing compound biosynthetic process (GO:1901070)	3.16781605
37	positive regulation of mitochondrial fission (GO:0090141)	3.11776865
38	isoprenoid biosynthetic process (GO:0008299)	3.08109815
39	UTP biosynthetic process (GO:0006228)	3.01483974
40	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.00814739
41	cholesterol biosynthetic process (GO:0006695)	2.97029296
42	nonmotile primary cilium assembly (GO:0035058)	2.95440415
43	intracellular protein transmembrane import (GO:0044743)	2.94919393
44	negative regulation of telomere maintenance (GO:0032205)	2.93523950
45	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.91458027
46	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.90970545
47	forebrain neuron differentiation (GO:0021879)	2.88935289
48	head development (GO:0060322)	2.88531108
49	regulation of timing of cell differentiation (GO:0048505)	2.84703350
50	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.82373093
51	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.82268847
52	epithelial cilium movement (GO:0003351)	2.81714334
53	cerebral cortex neuron differentiation (GO:0021895)	2.77738516
54	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.76662269
55	neuron cell-cell adhesion (GO:0007158)	2.73083995
56	UTP metabolic process (GO:0046051)	2.71912683
57	positive regulation of potassium ion transmembrane transport (GO:1901381)	2.71518225
58	sterol biosynthetic process (GO:0016126)	2.71455620
59	DNA deamination (GO:0045006)	2.67853576
60	protein neddylation (GO:0045116)	2.62952462
61	ubiquinone metabolic process (GO:0006743)	2.56786252
62	ATP biosynthetic process (GO:0006754)	2.56103312
63	negative regulation of glial cell differentiation (GO:0045686)	2.55192013
64	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.54892704
65	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.54289672
66	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.54180304
67	regulation of cardioblast proliferation (GO:0003264)	2.54180304
68	tyrosine phosphorylation of STAT protein (GO:0007260)	2.54013713
69	water-soluble vitamin biosynthetic process (GO:0042364)	2.52806960
70	spermatid nucleus differentiation (GO:0007289)	2.51899782
71	nucleoside diphosphate phosphorylation (GO:0006165)	2.51327595
72	left/right axis specification (GO:0070986)	2.51002047
73	hydrogen ion transmembrane transport (GO:1902600)	2.49766614
74	axonemal dynein complex assembly (GO:0070286)	2.48529896
75	histone mRNA metabolic process (GO:0008334)	2.47484583
76	neurofilament cytoskeleton organization (GO:0060052)	2.46356998
77	regulation of cilium movement (GO:0003352)	2.46062914
78	S-adenosylmethionine metabolic process (GO:0046500)	2.44984209
79	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.44767319
80	de novo posttranslational protein folding (GO:0051084)	2.44472608
81	establishment of mitochondrion localization (GO:0051654)	2.44327032
82	cilium morphogenesis (GO:0060271)	2.42767283
83	cullin deneddylation (GO:0010388)	2.42462913
84	proton transport (GO:0015992)	2.42317443
85	establishment of protein localization to mitochondrion (GO:0072655)	2.42283842
86	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	2.41237699
87	postsynaptic membrane organization (GO:0001941)	2.39949133
88	outer ear morphogenesis (GO:0042473)	2.37873914
89	synapse assembly (GO:0007416)	2.37518353
90	artery smooth muscle contraction (GO:0014824)	2.37276145
91	neuronal action potential (GO:0019228)	2.35535658
92	hydrogen transport (GO:0006818)	2.34781203
93	histone mRNA catabolic process (GO:0071044)	2.34079650
94	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	2.33960632
95	ATP hydrolysis coupled proton transport (GO:0015991)	2.33484696
96	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.33484696
97	hippocampus development (GO:0021766)	2.32853308
98	protein localization to mitochondrion (GO:0070585)	2.31950196
99	negative regulation of T cell differentiation in thymus (GO:0033085)	2.31872928
100	respiratory chain complex IV assembly (GO:0008535)	2.31690912

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.94952007
2	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.67602830
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.58393350
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.17002707
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.09323238
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.94999151
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.90328813
8	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.89005827
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.65236708
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.58057888
11	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.44889245
12	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.35987836
13	VDR_22108803_ChIP-Seq_LS180_Human	2.25292549
14	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.22954812
15	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.21026219
16	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.14079720
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.11830883
18	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.04749636
19	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.96610612
20	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.90974472
21	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.90053000
22	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.85524016
23	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.79662228
24	GBX2_23144817_ChIP-Seq_PC3_Human	1.74199102
25	VDR_23849224_ChIP-Seq_CD4+_Human	1.74175765
26	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.70809411
27	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.67915575
28	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.67890081
29	RNF2_27304074_Chip-Seq_NSC_Mouse	1.64041932
30	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.62151481
31	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.61426993
32	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.57875500
33	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.55673974
34	EWS_26573619_Chip-Seq_HEK293_Human	1.54892064
35	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.53159612
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.49859617
37	REST_21632747_ChIP-Seq_MESCs_Mouse	1.48995526
38	ELK1_19687146_ChIP-ChIP_HELA_Human	1.46787827
39	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.41976576
40	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.40825794
41	P300_19829295_ChIP-Seq_ESCs_Human	1.39653480
42	TP53_22573176_ChIP-Seq_HFKS_Human	1.37032196
43	GABP_19822575_ChIP-Seq_HepG2_Human	1.35858283
44	IRF1_19129219_ChIP-ChIP_H3396_Human	1.33617258
45	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.31016216
46	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.29598906
47	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.29370328
48	FUS_26573619_Chip-Seq_HEK293_Human	1.28252955
49	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.27242972
50	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.25530353
51	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.25322087
52	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.24293553
53	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.24239461
54	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.23459769
55	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.22418348
56	AR_21572438_ChIP-Seq_LNCaP_Human	1.21920557
57	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21346894
58	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.21337350
59	TAF15_26573619_Chip-Seq_HEK293_Human	1.21012797
60	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.20840440
61	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.18628385
62	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.17181655
63	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.16943801
64	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.16910706
65	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.15426247
66	FOXP3_21729870_ChIP-Seq_TREG_Human	1.11933207
67	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.11746965
68	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.11679167
69	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.11212827
70	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.10719306
71	DCP1A_22483619_ChIP-Seq_HELA_Human	1.10546264
72	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.09458860
73	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.08529359
74	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.08394597
75	XRN2_22483619_ChIP-Seq_HELA_Human	1.07465963
76	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.05838939
77	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.02152081
78	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.00694240
79	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.97651099
80	HTT_18923047_ChIP-ChIP_STHdh_Human	0.96249604
81	ER_23166858_ChIP-Seq_MCF-7_Human	0.96046364
82	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.95937091
83	AR_20517297_ChIP-Seq_VCAP_Human	0.94021651
84	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.93782958
85	NCOR_22424771_ChIP-Seq_293T_Human	0.91677905
86	TTF2_22483619_ChIP-Seq_HELA_Human	0.89436564
87	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.86937298
88	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.86653328
89	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.86134116
90	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.85692382
91	OCT4_20526341_ChIP-Seq_ESCs_Human	0.82476870
92	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.81760963
93	ERA_21632823_ChIP-Seq_H3396_Human	0.80069130
94	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.79943930
95	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	0.79510797
96	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.79402134
97	NANOG_20526341_ChIP-Seq_ESCs_Human	0.79330267
98	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	0.79143695
99	JUN_21703547_ChIP-Seq_K562_Human	0.78995493
100	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.77870906

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005646_abnormal_pituitary_gland	3.07713078
2	MP0004885_abnormal_endolymph	3.06747781
3	MP0005187_abnormal_penis_morphology	2.97132674
4	MP0003122_maternal_imprinting	2.93990175
5	MP0005377_hearing/vestibular/ear_phenot	2.90039553
6	MP0003878_abnormal_ear_physiology	2.90039553
7	MP0001529_abnormal_vocalization	2.56895622
8	MP0003315_abnormal_perineum_morphology	2.54185513
9	MP0006276_abnormal_autonomic_nervous	2.52680204
10	MP0008995_early_reproductive_senescence	2.44817251
11	MP0002736_abnormal_nociception_after	2.40684282
12	MP0005423_abnormal_somatic_nervous	2.33166889
13	MP0002102_abnormal_ear_morphology	2.31220872
14	MP0001968_abnormal_touch/_nociception	2.23620029
15	MP0000778_abnormal_nervous_system	2.16869481
16	MP0003880_abnormal_central_pattern	2.13377426
17	MP0000049_abnormal_middle_ear	2.06762115
18	MP0000566_synostosis	2.01314901
19	MP0003121_genomic_imprinting	1.97271170
20	MP0005394_taste/olfaction_phenotype	1.92069741
21	MP0005499_abnormal_olfactory_system	1.92069741
22	MP0008789_abnormal_olfactory_epithelium	1.89527003
23	MP0001188_hyperpigmentation	1.81955340
24	MP0001984_abnormal_olfaction	1.73650219
25	MP0004859_abnormal_synaptic_plasticity	1.72223138
26	MP0000631_abnormal_neuroendocrine_gland	1.69591449
27	MP0009046_muscle_twitch	1.66586409
28	MP0009745_abnormal_behavioral_response	1.61933133
29	MP0002272_abnormal_nervous_system	1.57715706
30	MP0006292_abnormal_olfactory_placode	1.55908465
31	MP0001485_abnormal_pinna_reflex	1.53459495
32	MP0001905_abnormal_dopamine_level	1.52482508
33	MP0005645_abnormal_hypothalamus_physiol	1.44498941
34	MP0002638_abnormal_pupillary_reflex	1.43657824
35	MP0003635_abnormal_synaptic_transmissio	1.40779536
36	MP0003567_abnormal_fetal_cardiomyocyte	1.39492379
37	MP0000026_abnormal_inner_ear	1.38805491
38	MP0006072_abnormal_retinal_apoptosis	1.36918266
39	MP0002184_abnormal_innervation	1.36868127
40	MP0002557_abnormal_social/conspecific_i	1.36083042
41	MP0003011_delayed_dark_adaptation	1.35827492
42	MP0005084_abnormal_gallbladder_morpholo	1.35389872
43	MP0004270_analgesia	1.34103564
44	MP0002064_seizures	1.29705491
45	MP0004142_abnormal_muscle_tone	1.28617995
46	MP0000647_abnormal_sebaceous_gland	1.28224063
47	MP0005551_abnormal_eye_electrophysiolog	1.27159281
48	MP0001919_abnormal_reproductive_system	1.23956217
49	MP0003938_abnormal_ear_development	1.23912674
50	MP0002063_abnormal_learning/memory/cond	1.23286123
51	MP0002572_abnormal_emotion/affect_behav	1.22833720
52	MP0008877_abnormal_DNA_methylation	1.22695059
53	MP0004742_abnormal_vestibular_system	1.21821771
54	MP0002067_abnormal_sensory_capabilities	1.18040262
55	MP0001963_abnormal_hearing_physiology	1.17298274
56	MP0002160_abnormal_reproductive_system	1.16366424
57	MP0003137_abnormal_impulse_conducting	1.12543999
58	MP0003787_abnormal_imprinting	1.10652992
59	MP0003693_abnormal_embryo_hatching	1.09370902
60	MP0004133_heterotaxia	1.08482642
61	MP0001986_abnormal_taste_sensitivity	1.07788393
62	MP0000955_abnormal_spinal_cord	1.06725246
63	MP0008875_abnormal_xenobiotic_pharmacok	1.05965015
64	MP0002752_abnormal_somatic_nervous	1.05803081
65	MP0002735_abnormal_chemical_nociception	1.05632271
66	MP0002822_catalepsy	1.03880435
67	MP0002734_abnormal_mechanical_nocicepti	1.03629139
68	MP0004811_abnormal_neuron_physiology	1.03577036
69	MP0005253_abnormal_eye_physiology	1.02438069
70	MP0002882_abnormal_neuron_morphology	1.02208475
71	MP0002210_abnormal_sex_determination	0.99493628
72	MP0004147_increased_porphyrin_level	0.99120974
73	MP0004145_abnormal_muscle_electrophysio	0.98986984
74	MP0003879_abnormal_hair_cell	0.98930722
75	MP0005360_urolithiasis	0.98528400
76	MP0001970_abnormal_pain_threshold	0.97100518
77	MP0003195_calcinosis	0.93173637
78	MP0001486_abnormal_startle_reflex	0.90450461
79	MP0003646_muscle_fatigue	0.88783642
80	MP0002733_abnormal_thermal_nociception	0.87316220
81	MP0001873_stomach_inflammation	0.86740798
82	MP0005389_reproductive_system_phenotype	0.84858337
83	MP0010386_abnormal_urinary_bladder	0.84743897
84	MP0006035_abnormal_mitochondrial_morpho	0.84568713
85	MP0000538_abnormal_urinary_bladder	0.83424565
86	MP0002277_abnormal_respiratory_mucosa	0.81633932
87	MP0000639_abnormal_adrenal_gland	0.79535556
88	MP0005451_abnormal_body_composition	0.79320372
89	MP0005195_abnormal_posterior_eye	0.78510955
90	MP0000653_abnormal_sex_gland	0.78273188
91	MP0003136_yellow_coat_color	0.76815490
92	MP0001145_abnormal_male_reproductive	0.75672035
93	MP0001502_abnormal_circadian_rhythm	0.74477731
94	MP0002229_neurodegeneration	0.73399236
95	MP0003221_abnormal_cardiomyocyte_apopto	0.72555772
96	MP0004924_abnormal_behavior	0.72115360
97	MP0005386_behavior/neurological_phenoty	0.72115360
98	MP0003698_abnormal_male_reproductive	0.71857558
99	MP0000537_abnormal_urethra_morphology	0.70570880
100	MP0008058_abnormal_DNA_repair	0.68972891

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.88633966
2	Acute necrotizing encephalopathy (HP:0006965)	4.78729016
3	Abnormal mitochondria in muscle tissue (HP:0008316)	4.38463182
4	Acute encephalopathy (HP:0006846)	4.05697064
5	Increased hepatocellular lipid droplets (HP:0006565)	3.96107330
6	Mitochondrial inheritance (HP:0001427)	3.90149368
7	Progressive macrocephaly (HP:0004481)	3.89010872
8	Renal Fanconi syndrome (HP:0001994)	3.86042562
9	Lipid accumulation in hepatocytes (HP:0006561)	3.73367621
10	Papilledema (HP:0001085)	3.45717615
11	Increased CSF lactate (HP:0002490)	3.32575922
12	Abnormal respiratory motile cilium physiology (HP:0012261)	3.30742300
13	Abnormality of the labia minora (HP:0012880)	3.16282044
14	Absent/shortened dynein arms (HP:0200106)	2.96745861
15	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.96745861
16	Optic disc pallor (HP:0000543)	2.88011994
17	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.83122327
18	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.83122327
19	Increased intramyocellular lipid droplets (HP:0012240)	2.81530407
20	Thyroid-stimulating hormone excess (HP:0002925)	2.80782170
21	Chronic bronchitis (HP:0004469)	2.77601928
22	Synostosis involving the elbow (HP:0003938)	2.77587392
23	Humeroradial synostosis (HP:0003041)	2.77587392
24	Exertional dyspnea (HP:0002875)	2.67550072
25	Pancreatic cysts (HP:0001737)	2.63891544
26	Polyphagia (HP:0002591)	2.62936792
27	Cerebral edema (HP:0002181)	2.59879414
28	Increased serum pyruvate (HP:0003542)	2.58639837
29	Hyperglycinemia (HP:0002154)	2.56017845
30	Abnormality of the corticospinal tract (HP:0002492)	2.50607556
31	True hermaphroditism (HP:0010459)	2.50202883
32	Hepatocellular necrosis (HP:0001404)	2.48006507
33	Rhinitis (HP:0012384)	2.46396189
34	Medial flaring of the eyebrow (HP:0010747)	2.44024179
35	Pancreatic fibrosis (HP:0100732)	2.43162774
36	Abnormal respiratory epithelium morphology (HP:0012253)	2.43155985
37	Abnormal respiratory motile cilium morphology (HP:0005938)	2.43155985
38	Abnormality of midbrain morphology (HP:0002418)	2.41742702
39	Molar tooth sign on MRI (HP:0002419)	2.41742702
40	Lissencephaly (HP:0001339)	2.41275867
41	Retinal dysplasia (HP:0007973)	2.37834758
42	Abnormal ciliary motility (HP:0012262)	2.37439332
43	Gait imbalance (HP:0002141)	2.36987374
44	Increased muscle lipid content (HP:0009058)	2.34048168
45	Abnormality of renal resorption (HP:0011038)	2.33007621
46	Abnormality of urine glucose concentration (HP:0011016)	2.29163949
47	Glycosuria (HP:0003076)	2.29163949
48	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.26740526
49	Limb dystonia (HP:0002451)	2.23978902
50	Hyperphosphaturia (HP:0003109)	2.23547354
51	Hepatic necrosis (HP:0002605)	2.22661194
52	Short tibia (HP:0005736)	2.21736329
53	Split foot (HP:0001839)	2.20919555
54	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.18210423
55	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.18210423
56	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.16351303
57	Abnormality of glycolysis (HP:0004366)	2.13031776
58	Congenital primary aphakia (HP:0007707)	2.12839642
59	Sclerocornea (HP:0000647)	2.11646901
60	Morphological abnormality of the pyramidal tract (HP:0002062)	2.09490322
61	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.08420722
62	Lactic acidosis (HP:0003128)	2.02092122
63	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.98633905
64	Methylmalonic acidemia (HP:0002912)	1.97875464
65	Exercise intolerance (HP:0003546)	1.97373127
66	Triphalangeal thumb (HP:0001199)	1.96221378
67	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.95071993
68	Nephrogenic diabetes insipidus (HP:0009806)	1.91674024
69	Congenital stationary night blindness (HP:0007642)	1.91375875
70	Generalized aminoaciduria (HP:0002909)	1.91071654
71	Poor suck (HP:0002033)	1.90739449
72	Epileptiform EEG discharges (HP:0011182)	1.87103429
73	Hyperthyroidism (HP:0000836)	1.86190552
74	Hypsarrhythmia (HP:0002521)	1.86086675
75	Elevated erythrocyte sedimentation rate (HP:0003565)	1.84925602
76	Meckel diverticulum (HP:0002245)	1.84560772
77	Increased serum lactate (HP:0002151)	1.83539002
78	Progressive cerebellar ataxia (HP:0002073)	1.82699333
79	Type II lissencephaly (HP:0007260)	1.81527999
80	Specific learning disability (HP:0001328)	1.80768327
81	Drooling (HP:0002307)	1.79822643
82	Leukodystrophy (HP:0002415)	1.79619323
83	Absent thumb (HP:0009777)	1.79559847
84	Adrenal hypoplasia (HP:0000835)	1.78918688
85	Failure to thrive in infancy (HP:0001531)	1.77772357
86	EEG with generalized epileptiform discharges (HP:0011198)	1.75981394
87	Abnormality of the carotid arteries (HP:0005344)	1.75217452
88	Hypoplasia of the brainstem (HP:0002365)	1.74629784
89	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.74629784
90	Respiratory failure (HP:0002878)	1.74538955
91	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.73567917
92	Urinary urgency (HP:0000012)	1.72344462
93	Abnormality of the ileum (HP:0001549)	1.72221676
94	Methylmalonic aciduria (HP:0012120)	1.69531162
95	Nephronophthisis (HP:0000090)	1.69397928
96	Preaxial hand polydactyly (HP:0001177)	1.67915117
97	X-linked dominant inheritance (HP:0001423)	1.66971763
98	Amyotrophic lateral sclerosis (HP:0007354)	1.66314351
99	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	1.66156014
100	Respiratory difficulties (HP:0002880)	1.66138605

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.36070577
2	MARK1	3.04848543
3	MAP3K4	2.60100324
4	LIMK1	2.54581088
5	CDK19	2.50875921
6	MAP2K7	2.42358013
7	BCR	2.41797427
8	TRIM28	2.38499806
9	DYRK2	2.30403148
10	BCKDK	2.18537190
11	NME1	2.08731588
12	TESK2	2.02539070
13	BMPR1B	2.02451920
14	WNK3	1.98060569
15	CAMKK2	1.73236278
16	TYRO3	1.70020881
17	TXK	1.66672242
18	CSNK1G2	1.65883643
19	TESK1	1.61170778
20	NEK1	1.59401233
21	MINK1	1.58591046
22	CSNK1G3	1.55842358
23	PINK1	1.54037214
24	TLK1	1.50621237
25	CASK	1.47632437
26	MAPK13	1.45696319
27	VRK1	1.42195214
28	RPS6KA4	1.38660900
29	CSNK1A1L	1.37184585
30	DYRK1B	1.35244860
31	ERBB3	1.34191570
32	BUB1	1.33971588
33	PIM2	1.33320160
34	PASK	1.31333634
35	NTRK2	1.29160170
36	ADRBK2	1.27917316
37	KDR	1.22853631
38	CAMKK1	1.19939510
39	MAP3K6	1.09651718
40	CSNK1G1	1.06098004
41	PRKCG	1.05652524
42	CCNB1	1.05034536
43	WEE1	1.05031683
44	SRPK1	1.02395980
45	EPHB2	1.01182060
46	PAK3	0.97868475
47	FRK	0.93878193
48	CDK14	0.93226033
49	ZAK	0.91562895
50	NUAK1	0.90951894
51	EIF2AK3	0.88541882
52	MAP2K4	0.87788730
53	PAK6	0.84180816
54	DYRK3	0.82485002
55	EIF2AK1	0.80647686
56	INSRR	0.79039410
57	PLK2	0.78359542
58	AURKA	0.76050475
59	PNCK	0.75480477
60	ADRBK1	0.72101762
61	CDK18	0.70661410
62	MAP3K5	0.70315387
63	UHMK1	0.68937332
64	CDK11A	0.68755189
65	CDK15	0.66562970
66	RPS6KA5	0.65141644
67	GRK1	0.64425142
68	MAPK15	0.63779562
69	PTK6	0.63526629
70	PLK1	0.63304564
71	VRK2	0.61468246
72	MUSK	0.60755713
73	NME2	0.60269932
74	BRSK1	0.58135846
75	PLK4	0.57499519
76	DYRK1A	0.53053874
77	MAP3K7	0.52496627
78	CDK5	0.51660784
79	AURKB	0.47845311
80	PAK1	0.47625942
81	TSSK6	0.47137545
82	CAMK2A	0.45713537
83	PRKACA	0.44739665
84	OXSR1	0.44630175
85	CAMK1D	0.42996928
86	CSNK1A1	0.42626055
87	DAPK2	0.42281575
88	GRK5	0.42254386
89	PRKCE	0.41080270
90	CDK8	0.40953772
91	CSNK2A1	0.39026891
92	TNK2	0.38438901
93	PKN1	0.38391892
94	PLK3	0.37044254
95	CAMK4	0.36531319
96	DAPK3	0.35860421
97	ATR	0.34931035
98	FES	0.33154272
99	NEK2	0.32274560
100	ERBB2	0.32219794

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.40186799
2	Parkinsons disease_Homo sapiens_hsa05012	3.82500536
3	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	3.00273764
4	Steroid biosynthesis_Homo sapiens_hsa00100	2.73658602
5	Protein export_Homo sapiens_hsa03060	2.64280995
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.64221595
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.53178504
8	Huntingtons disease_Homo sapiens_hsa05016	2.52806424
9	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.44958241
10	Alzheimers disease_Homo sapiens_hsa05010	2.36749285
11	Ribosome_Homo sapiens_hsa03010	2.27059728
12	Nicotine addiction_Homo sapiens_hsa05033	2.16778253
13	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.94279256
14	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.91963852
15	Butanoate metabolism_Homo sapiens_hsa00650	1.87302408
16	Proteasome_Homo sapiens_hsa03050	1.79855534
17	Fanconi anemia pathway_Homo sapiens_hsa03460	1.75967343
18	GABAergic synapse_Homo sapiens_hsa04727	1.74630657
19	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.67923409
20	Collecting duct acid secretion_Homo sapiens_hsa04966	1.64258955
21	Phototransduction_Homo sapiens_hsa04744	1.62108457
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.61829167
23	Morphine addiction_Homo sapiens_hsa05032	1.60127288
24	Peroxisome_Homo sapiens_hsa04146	1.46332194
25	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.46025461
26	RNA polymerase_Homo sapiens_hsa03020	1.45912569
27	Mismatch repair_Homo sapiens_hsa03430	1.45741117
28	Nucleotide excision repair_Homo sapiens_hsa03420	1.44811296
29	DNA replication_Homo sapiens_hsa03030	1.42648266
30	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.37873043
31	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.36379371
32	RNA degradation_Homo sapiens_hsa03018	1.31022591
33	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.26742602
34	Alcoholism_Homo sapiens_hsa05034	1.23551328
35	Homologous recombination_Homo sapiens_hsa03440	1.20212125
36	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.19251998
37	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.11892592
38	Nitrogen metabolism_Homo sapiens_hsa00910	1.11301536
39	Selenocompound metabolism_Homo sapiens_hsa00450	1.10164703
40	Sulfur relay system_Homo sapiens_hsa04122	1.09476560
41	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.08436801
42	Basal transcription factors_Homo sapiens_hsa03022	1.05064785
43	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.04250147
44	Pyrimidine metabolism_Homo sapiens_hsa00240	1.02016471
45	Spliceosome_Homo sapiens_hsa03040	1.01808215
46	Dopaminergic synapse_Homo sapiens_hsa04728	1.00022877
47	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.99842676
48	Glutamatergic synapse_Homo sapiens_hsa04724	0.95895039
49	Circadian entrainment_Homo sapiens_hsa04713	0.94434780
50	Pyruvate metabolism_Homo sapiens_hsa00620	0.94017476
51	Base excision repair_Homo sapiens_hsa03410	0.83195028
52	Purine metabolism_Homo sapiens_hsa00230	0.79181032
53	Olfactory transduction_Homo sapiens_hsa04740	0.76945590
54	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.76796895
55	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.76742633
56	Fatty acid elongation_Homo sapiens_hsa00062	0.75960435
57	Serotonergic synapse_Homo sapiens_hsa04726	0.72130979
58	Metabolic pathways_Homo sapiens_hsa01100	0.71073842
59	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.70387850
60	Propanoate metabolism_Homo sapiens_hsa00640	0.69999786
61	Vibrio cholerae infection_Homo sapiens_hsa05110	0.69655758
62	Taste transduction_Homo sapiens_hsa04742	0.69141819
63	Tryptophan metabolism_Homo sapiens_hsa00380	0.68411224
64	Primary immunodeficiency_Homo sapiens_hsa05340	0.65347598
65	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.64126374
66	RNA transport_Homo sapiens_hsa03013	0.63734001
67	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.63440314
68	Cholinergic synapse_Homo sapiens_hsa04725	0.62715629
69	Caffeine metabolism_Homo sapiens_hsa00232	0.58011706
70	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.57980516
71	Axon guidance_Homo sapiens_hsa04360	0.57083327
72	Linoleic acid metabolism_Homo sapiens_hsa00591	0.56016915
73	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.53931616
74	Cocaine addiction_Homo sapiens_hsa05030	0.53772607
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52799748
76	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.52549930
77	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.52402807
78	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.50038495
79	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.47612723
80	Regulation of autophagy_Homo sapiens_hsa04140	0.42879547
81	Fat digestion and absorption_Homo sapiens_hsa04975	0.41103649
82	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.39086641
83	Rheumatoid arthritis_Homo sapiens_hsa05323	0.36577059
84	Insulin secretion_Homo sapiens_hsa04911	0.36183815
85	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.35542305
86	Fatty acid metabolism_Homo sapiens_hsa01212	0.35129782
87	Salivary secretion_Homo sapiens_hsa04970	0.31676519
88	Folate biosynthesis_Homo sapiens_hsa00790	0.31103041
89	beta-Alanine metabolism_Homo sapiens_hsa00410	0.28381711
90	Oocyte meiosis_Homo sapiens_hsa04114	0.27870647
91	Chemical carcinogenesis_Homo sapiens_hsa05204	0.26710410
92	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.26587471
93	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.24803145
94	Retinol metabolism_Homo sapiens_hsa00830	0.24388261
95	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.23662859
96	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.23012221
97	Carbon metabolism_Homo sapiens_hsa01200	0.19226017
98	Gap junction_Homo sapiens_hsa04540	0.18912599
99	Arginine and proline metabolism_Homo sapiens_hsa00330	0.17409822
100	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.17224441

TUBB3P1

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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