ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ATP synthesis coupled proton transport (GO:0015986)	6.97636245
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	6.97636245
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	6.84553300
4	ribosomal small subunit assembly (GO:0000028)	6.56284848
5	viral transcription (GO:0019083)	6.17026910
6	chaperone-mediated protein transport (GO:0072321)	6.03974366
7	protein neddylation (GO:0045116)	6.03359446
8	translational termination (GO:0006415)	5.84846403
9	behavioral response to nicotine (GO:0035095)	5.83108737
10	ribosomal small subunit biogenesis (GO:0042274)	5.56141943
11	protein complex biogenesis (GO:0070271)	5.25524444
12	translational elongation (GO:0006414)	4.98145138
13	maturation of SSU-rRNA (GO:0030490)	4.91416263
14	protein targeting to ER (GO:0045047)	4.85356482
15	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	4.83687656
16	respiratory electron transport chain (GO:0022904)	4.79599130
17	electron transport chain (GO:0022900)	4.79311570
18	cotranslational protein targeting to membrane (GO:0006613)	4.77826646
19	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.70778243
20	GTP biosynthetic process (GO:0006183)	4.69059721
21	mitochondrial respiratory chain complex assembly (GO:0033108)	4.68087587
22	protein localization to endoplasmic reticulum (GO:0070972)	4.56766753
23	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.55182010
24	NADH dehydrogenase complex assembly (GO:0010257)	4.55182010
25	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.55182010
26	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.49867687
27	white fat cell differentiation (GO:0050872)	4.46579405
28	viral life cycle (GO:0019058)	4.34053927
29	protein insertion into membrane (GO:0051205)	4.26768938
30	cellular protein complex disassembly (GO:0043624)	4.26307171
31	UTP biosynthetic process (GO:0006228)	4.25503908
32	* hydrogen ion transmembrane transport (GO:1902600)	4.16207500
33	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.15760428
34	positive regulation of interferon-gamma biosynthetic process (GO:0045078)	4.07036489
35	spliceosomal complex assembly (GO:0000245)	4.05723606
36	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.03226136
37	UTP metabolic process (GO:0046051)	4.02618024
38	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.99377350
39	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.88099321
40	positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)	3.79938407
41	ATP biosynthetic process (GO:0006754)	3.77372391
42	positive regulation of gastrulation (GO:2000543)	3.73276689
43	translational initiation (GO:0006413)	3.63599884
44	protein complex disassembly (GO:0043241)	3.62271437
45	negative regulation of mast cell activation (GO:0033004)	3.58623775
46	respiratory chain complex IV assembly (GO:0008535)	3.51826979
47	translation (GO:0006412)	3.46887839
48	cellular component biogenesis (GO:0044085)	3.44933692
49	* proton transport (GO:0015992)	3.44660124
50	positive regulation of prostaglandin secretion (GO:0032308)	3.43917237
51	regulation of interferon-gamma biosynthetic process (GO:0045072)	3.40914575
52	macromolecular complex disassembly (GO:0032984)	3.40576660
53	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.40572790
54	* hydrogen transport (GO:0006818)	3.34519780
55	amine catabolic process (GO:0009310)	3.32751843
56	cellular biogenic amine catabolic process (GO:0042402)	3.32751843
57	pyrimidine nucleobase catabolic process (GO:0006208)	3.28849727
58	regulation of prostaglandin secretion (GO:0032306)	3.27568845
59	protein targeting to membrane (GO:0006612)	3.26739965
60	opioid receptor signaling pathway (GO:0038003)	3.24884607
61	establishment of mitochondrion localization (GO:0051654)	3.20489042
62	synaptic transmission, cholinergic (GO:0007271)	3.18013797
63	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	3.17211580
64	mitochondrion transport along microtubule (GO:0047497)	3.17211580
65	protein localization to cilium (GO:0061512)	3.15156218
66	inner mitochondrial membrane organization (GO:0007007)	3.13066212
67	hydrogen peroxide biosynthetic process (GO:0050665)	3.10051130
68	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	3.08039803
69	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	3.07536183
70	spinal cord development (GO:0021510)	3.06779316
71	cytochrome complex assembly (GO:0017004)	3.06031753
72	sequestering of actin monomers (GO:0042989)	3.05232296
73	negative regulation of B cell apoptotic process (GO:0002903)	3.03011899
74	kynurenine metabolic process (GO:0070189)	2.99821417
75	nonmotile primary cilium assembly (GO:0035058)	2.95014891
76	ribonucleoprotein complex biogenesis (GO:0022613)	2.91398402
77	brown fat cell differentiation (GO:0050873)	2.91275208
78	axonal fasciculation (GO:0007413)	2.87312426
79	positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:0061081	2.86936512
80	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.84356680
81	CTP biosynthetic process (GO:0006241)	2.84064191
82	CTP metabolic process (GO:0046036)	2.84064191
83	negative regulation of inflammatory response to antigenic stimulus (GO:0002862)	2.83902122
84	axon extension (GO:0048675)	2.82294176
85	sulfate transmembrane transport (GO:1902358)	2.82289874
86	nuclear-transcribed mRNA catabolic process (GO:0000956)	2.78020944
87	tongue development (GO:0043586)	2.76993959
88	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.75463723
89	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.75463723
90	ribosomal large subunit biogenesis (GO:0042273)	2.74587956
91	regulation of action potential (GO:0098900)	2.74555933
92	ubiquinone biosynthetic process (GO:0006744)	2.74423007
93	nucleoside triphosphate biosynthetic process (GO:0009142)	2.72238518
94	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.72024779
95	positive regulation of icosanoid secretion (GO:0032305)	2.71713510
96	positive regulation of fatty acid transport (GO:2000193)	2.70052854
97	mRNA catabolic process (GO:0006402)	2.70050092
98	DNA deamination (GO:0045006)	2.67310028
99	positive regulation of protein kinase C signaling (GO:0090037)	2.67204156
100	reactive oxygen species biosynthetic process (GO:1903409)	2.67180187

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	7.40491496
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	6.01995981
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	5.82219663
4	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.38422260
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.02578863
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.88210986
7	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.81186381
8	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.57075505
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.48078046
10	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.37597927
11	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	2.11080879
12	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.10355570
13	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.78292627
14	ZNF274_21170338_ChIP-Seq_K562_Hela	1.76745735
15	VDR_23849224_ChIP-Seq_CD4+_Human	1.70939675
16	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.68465500
17	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.64894856
18	VDR_22108803_ChIP-Seq_LS180_Human	1.61120768
19	GABP_19822575_ChIP-Seq_HepG2_Human	1.51271992
20	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50652783
21	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.49961846
22	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.48966129
23	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.47640915
24	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.44531283
25	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.43787428
26	TTF2_22483619_ChIP-Seq_HELA_Human	1.43445565
27	REST_21632747_ChIP-Seq_MESCs_Mouse	1.40728455
28	TP53_22127205_ChIP-Seq_IMR90_Human	1.40072662
29	VDR_21846776_ChIP-Seq_THP-1_Human	1.38281451
30	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.37648082
31	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.36956164
32	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.36321619
33	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.35952643
34	XRN2_22483619_ChIP-Seq_HELA_Human	1.34185487
35	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.32012255
36	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.31384493
37	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.31029073
38	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.30118898
39	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.28399853
40	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.27454625
41	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.26891211
42	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.26479206
43	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.25701302
44	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.25220676
45	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.24984952
46	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.23139457
47	E2F1_20622854_ChIP-Seq_HELA_Human	1.22220157
48	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.21853476
49	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.18169383
50	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17644287
51	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.17289390
52	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.17141410
53	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.16521348
54	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.16355381
55	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.15523844
56	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.14152575
57	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.10977439
58	FOXP3_21729870_ChIP-Seq_TREG_Human	1.10716425
59	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.10362805
60	CTCF_27219007_Chip-Seq_Bcells_Human	1.08465731
61	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.07365526
62	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.07197843
63	ERA_21632823_ChIP-Seq_H3396_Human	1.07066291
64	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.06179765
65	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.06179765
66	P68_20966046_ChIP-Seq_HELA_Human	1.05585327
67	NANOG_20526341_ChIP-Seq_ESCs_Human	1.05114693
68	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.05073237
69	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.05002048
70	MYC_22102868_ChIP-Seq_BL_Human	1.04827709
71	CTCF_20526341_ChIP-Seq_ESCs_Human	1.04104180
72	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.03716260
73	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	1.02391075
74	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.02184260
75	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.99107212
76	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.98549543
77	ZNF263_19887448_ChIP-Seq_K562_Human	0.97536155
78	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.96858081
79	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	0.96381263
80	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.95768278
81	PHF8_20622854_ChIP-Seq_HELA_Human	0.95172818
82	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.94964977
83	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.94542800
84	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.94513043
85	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	0.94318416
86	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.94028475
87	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.94014360
88	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.93921061
89	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.93076190
90	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.92945188
91	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.92729422
92	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.92630614
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.92270521
94	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	0.91738438
95	RAC3_21632823_ChIP-Seq_H3396_Human	0.90453839
96	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.89064586
97	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.88918327
98	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.88896879
99	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.88140974
100	P53_21459846_ChIP-Seq_SAOS-2_Human	0.87753707

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005645_abnormal_hypothalamus_physiol	5.07110021
2	MP0009379_abnormal_foot_pigmentation	4.43954827
3	MP0003646_muscle_fatigue	3.59954124
4	MP0003183_abnormal_peptide_metabolism	3.46300440
5	MP0003787_abnormal_imprinting	3.34548898
6	MP0003011_delayed_dark_adaptation	2.86446807
7	MP0000685_abnormal_immune_system	2.82580179
8	MP0003122_maternal_imprinting	2.81356680
9	MP0000566_synostosis	2.63139060
10	MP0003121_genomic_imprinting	2.55510766
11	MP0002163_abnormal_gland_morphology	2.49801442
12	MP0004142_abnormal_muscle_tone	2.48783997
13	MP0009046_muscle_twitch	2.45836747
14	MP0000604_amyloidosis	2.28762143
15	MP0008789_abnormal_olfactory_epithelium	2.15388915
16	MP0010386_abnormal_urinary_bladder	2.04716232
17	MP0005394_taste/olfaction_phenotype	2.03672818
18	MP0005499_abnormal_olfactory_system	2.03672818
19	MP0004130_abnormal_muscle_cell	1.95861890
20	MP0005503_abnormal_tendon_morphology	1.90740631
21	MP0000372_irregular_coat_pigmentation	1.77192620
22	MP0006292_abnormal_olfactory_placode	1.77067715
23	MP0002938_white_spotting	1.75487153
24	MP0006276_abnormal_autonomic_nervous	1.72616726
25	MP0004185_abnormal_adipocyte_glucose	1.70797638
26	MP0004742_abnormal_vestibular_system	1.69743878
27	MP0008877_abnormal_DNA_methylation	1.69371652
28	MP0001440_abnormal_grooming_behavior	1.69138405
29	MP0001529_abnormal_vocalization	1.65458835
30	MP0005379_endocrine/exocrine_gland_phen	1.59668263
31	MP0002876_abnormal_thyroid_physiology	1.55727732
32	MP0001727_abnormal_embryo_implantation	1.52055560
33	MP0002282_abnormal_trachea_morphology	1.45317428
34	MP0009840_abnormal_foam_cell	1.39835645
35	MP0005360_urolithiasis	1.31548541
36	MP0006072_abnormal_retinal_apoptosis	1.30240097
37	MP0001968_abnormal_touch/_nociception	1.28798903
38	MP0005423_abnormal_somatic_nervous	1.27436850
39	MP0002928_abnormal_bile_duct	1.26647395
40	MP0002184_abnormal_innervation	1.24958870
41	MP0002272_abnormal_nervous_system	1.24231705
42	MP0000631_abnormal_neuroendocrine_gland	1.23030811
43	MP0009053_abnormal_anal_canal	1.21372146
44	MP0005083_abnormal_biliary_tract	1.19220462
45	MP0005174_abnormal_tail_pigmentation	1.18215324
46	MP0001984_abnormal_olfaction	1.16238385
47	MP0001790_abnormal_immune_system	1.15808799
48	MP0005387_immune_system_phenotype	1.15808799
49	MP0002733_abnormal_thermal_nociception	1.14599170
50	MP0002735_abnormal_chemical_nociception	1.13001472
51	MP0005551_abnormal_eye_electrophysiolog	1.12263175
52	MP0003123_paternal_imprinting	1.10710031
53	MP0003879_abnormal_hair_cell	1.09439215
54	MP0001970_abnormal_pain_threshold	1.06896827
55	MP0002138_abnormal_hepatobiliary_system	1.06266327
56	MP0002063_abnormal_learning/memory/cond	1.05366887
57	MP0001919_abnormal_reproductive_system	1.04961000
58	MP0001986_abnormal_taste_sensitivity	1.02227483
59	MP0005408_hypopigmentation	1.00958576
60	MP0000955_abnormal_spinal_cord	1.00584659
61	MP0005671_abnormal_response_to	0.98579534
62	MP0000343_altered_response_to	0.96345189
63	MP0005647_abnormal_sex_gland	0.95405977
64	MP0008438_abnormal_cutaneous_collagen	0.94548184
65	MP0003635_abnormal_synaptic_transmissio	0.92727949
66	MP0005670_abnormal_white_adipose	0.92463153
67	MP0008872_abnormal_physiological_respon	0.90309450
68	MP0003329_amyloid_beta_deposits	0.89943417
69	MP0002572_abnormal_emotion/affect_behav	0.89252147
70	MP0002067_abnormal_sensory_capabilities	0.88562068
71	MP0000371_diluted_coat_color	0.87798417
72	MP0003880_abnormal_central_pattern	0.84972717
73	MP0001835_abnormal_antigen_presentation	0.83077052
74	MP0004924_abnormal_behavior	0.80757119
75	MP0005386_behavior/neurological_phenoty	0.80757119
76	MP0002752_abnormal_somatic_nervous	0.80683688
77	MP0000778_abnormal_nervous_system	0.79580105
78	MP0005389_reproductive_system_phenotype	0.79277138
79	MP0002064_seizures	0.78663458
80	MP0009745_abnormal_behavioral_response	0.77434489
81	MP0004133_heterotaxia	0.76234512
82	MP0000026_abnormal_inner_ear	0.74713205
83	MP0008775_abnormal_heart_ventricle	0.74365613
84	MP0001188_hyperpigmentation	0.73964875
85	MP0003942_abnormal_urinary_system	0.72848644
86	MP0001542_abnormal_bone_strength	0.72781076
87	MP0002822_catalepsy	0.72126712
88	MP0008995_early_reproductive_senescence	0.70848108
89	MP0003195_calcinosis	0.69954894
90	MP0000569_abnormal_digit_pigmentation	0.69126514
91	MP0010329_abnormal_lipoprotein_level	0.68852976
92	MP0005084_abnormal_gallbladder_morpholo	0.68700278
93	MP0009764_decreased_sensitivity_to	0.68468737
94	MP0002102_abnormal_ear_morphology	0.67267914
95	MP0000750_abnormal_muscle_regeneration	0.66868973
96	MP0000230_abnormal_systemic_arterial	0.66326162
97	MP0002882_abnormal_neuron_morphology	0.65825016
98	MP0004885_abnormal_endolymph	0.64794365
99	MP0004145_abnormal_muscle_electrophysio	0.64051515
100	MP0005195_abnormal_posterior_eye	0.63956499

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of cells of the erythroid lineage (HP:0012130)	4.37250609
2	Type II lissencephaly (HP:0007260)	3.84956325
3	Reticulocytopenia (HP:0001896)	3.79507913
4	Molar tooth sign on MRI (HP:0002419)	3.73102712
5	Abnormality of midbrain morphology (HP:0002418)	3.73102712
6	Abnormal number of erythroid precursors (HP:0012131)	3.64959396
7	Abnormal mitochondria in muscle tissue (HP:0008316)	3.62268540
8	Cerebellar dysplasia (HP:0007033)	3.56175258
9	Acute necrotizing encephalopathy (HP:0006965)	3.55475448
10	Mitochondrial inheritance (HP:0001427)	3.54531589
11	3-Methylglutaconic aciduria (HP:0003535)	3.52774509
12	Lissencephaly (HP:0001339)	3.49564775
13	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.34748552
14	Abnormality of the labia minora (HP:0012880)	3.31580734
15	Hepatocellular necrosis (HP:0001404)	3.09951016
16	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.09430030
17	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.09430030
18	Increased CSF lactate (HP:0002490)	3.06008588
19	Pachygyria (HP:0001302)	2.99900864
20	Increased intramyocellular lipid droplets (HP:0012240)	2.93778421
21	Acute encephalopathy (HP:0006846)	2.87255357
22	Optic disc pallor (HP:0000543)	2.84909800
23	Hepatic necrosis (HP:0002605)	2.84560292
24	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.83781486
25	Hypoplasia of the brainstem (HP:0002365)	2.83781486
26	Increased hepatocellular lipid droplets (HP:0006565)	2.78717209
27	Oligomenorrhea (HP:0000876)	2.77937317
28	Renal Fanconi syndrome (HP:0001994)	2.75719039
29	Progressive macrocephaly (HP:0004481)	2.75098005
30	Absent thumb (HP:0009777)	2.73571782
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.68359414
32	Carpal bone hypoplasia (HP:0001498)	2.65836751
33	Failure to thrive in infancy (HP:0001531)	2.63692724
34	Anterior segment dysgenesis (HP:0007700)	2.58613571
35	Mediastinal lymphadenopathy (HP:0100721)	2.57802286
36	Lipid accumulation in hepatocytes (HP:0006561)	2.53964919
37	Buphthalmos (HP:0000557)	2.49197497
38	Rib fusion (HP:0000902)	2.48540184
39	Increased serum lactate (HP:0002151)	2.44499371
40	Increased muscle lipid content (HP:0009058)	2.42327509
41	Recurrent bronchitis (HP:0002837)	2.40131974
42	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.38963482
43	Polymicrogyria (HP:0002126)	2.34653181
44	Abnormal hair whorl (HP:0010721)	2.30978375
45	Agitation (HP:0000713)	2.28593712
46	Dry hair (HP:0011359)	2.27484501
47	Recurrent bacterial skin infections (HP:0005406)	2.23969265
48	Small epiphyses (HP:0010585)	2.23925026
49	Parakeratosis (HP:0001036)	2.18897934
50	Macrocytic anemia (HP:0001972)	2.14669575
51	Hypoplasia of the radius (HP:0002984)	2.14628370
52	Horseshoe kidney (HP:0000085)	2.14431364
53	Pigmentary retinal degeneration (HP:0001146)	2.13413293
54	Vacuolated lymphocytes (HP:0001922)	2.12443209
55	Eczematoid dermatitis (HP:0000976)	2.11021148
56	Respiratory failure (HP:0002878)	2.09693493
57	Abnormality of incisor morphology (HP:0011063)	2.09318326
58	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.06979839
59	Irregular epiphyses (HP:0010582)	2.02624451
60	Polyphagia (HP:0002591)	2.00879182
61	Irregular vertebral endplates (HP:0003301)	1.97556088
62	Vitreoretinal degeneration (HP:0000655)	1.97361745
63	Pulmonary artery stenosis (HP:0004415)	1.95785883
64	Delayed CNS myelination (HP:0002188)	1.95684781
65	Large eyes (HP:0001090)	1.95614244
66	Abnormality of renal resorption (HP:0011038)	1.93020713
67	Recurrent sinusitis (HP:0011108)	1.92684513
68	Abnormality of the incisor (HP:0000676)	1.92116393
69	Abnormality of magnesium homeostasis (HP:0004921)	1.91435231
70	Lactic acidosis (HP:0003128)	1.91188316
71	Recurrent gram-negative bacterial infections (HP:0005420)	1.90355167
72	Long palpebral fissure (HP:0000637)	1.90011846
73	Chronic sinusitis (HP:0011109)	1.87144785
74	Congenital stationary night blindness (HP:0007642)	1.86704177
75	IgA deficiency (HP:0002720)	1.85639414
76	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.85313823
77	Respiratory difficulties (HP:0002880)	1.84146515
78	Cerebral edema (HP:0002181)	1.80959264
79	Asplenia (HP:0001746)	1.80722121
80	Cutaneous photosensitivity (HP:0000992)	1.80183314
81	Myokymia (HP:0002411)	1.79992187
82	Spontaneous abortion (HP:0005268)	1.78368120
83	Abnormality of the aortic arch (HP:0012303)	1.78168283
84	Recurrent pneumonia (HP:0006532)	1.77197360
85	Growth hormone deficiency (HP:0000824)	1.76744828
86	IgG deficiency (HP:0004315)	1.75278982
87	Abdominal situs inversus (HP:0003363)	1.75131071
88	Abnormality of abdominal situs (HP:0011620)	1.75131071
89	Limb hypertonia (HP:0002509)	1.72365725
90	Pallor (HP:0000980)	1.72112460
91	Deep palmar crease (HP:0006191)	1.71064766
92	Severe muscular hypotonia (HP:0006829)	1.68632699
93	Medial flaring of the eyebrow (HP:0010747)	1.68334532
94	Nephronophthisis (HP:0000090)	1.67798861
95	Nasal speech (HP:0001611)	1.67424198
96	Recurrent abscess formation (HP:0002722)	1.65908514
97	Elevated erythrocyte sedimentation rate (HP:0003565)	1.65182808
98	Forearm undergrowth (HP:0009821)	1.65156331
99	Exertional dyspnea (HP:0002875)	1.65054740
100	Narrow forehead (HP:0000341)	1.64879898

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	6.08142274
2	WNK3	3.10241756
3	DYRK2	2.91310921
4	SIK2	2.80638887
5	WNK4	2.66929473
6	NME2	2.66588254
7	TLK1	2.38508283
8	STK24	2.14517798
9	DDR2	2.13765714
10	PRKD3	2.11237017
11	DAPK3	2.09452564
12	IRAK4	2.02817218
13	PAK3	1.86582551
14	ADRBK2	1.82951819
15	VRK1	1.77796477
16	MAP3K12	1.71860698
17	LRRK2	1.62587720
18	KIT	1.59657891
19	PLK4	1.57475835
20	CAMKK2	1.55251680
21	PINK1	1.50210246
22	TYRO3	1.42108340
23	MAP3K9	1.37571882
24	CDK8	1.34920015
25	TAF1	1.28037117
26	ABL2	1.27174682
27	FLT3	1.19161530
28	MKNK2	1.18971755
29	MAP2K7	1.14890398
30	MAPK13	1.12435801
31	MARK1	1.12251392
32	EPHA3	1.11593600
33	ILK	1.10931325
34	GRK1	1.10662710
35	CAMKK1	1.06417476
36	RPS6KA5	1.04616100
37	MATK	1.03248925
38	PRKCQ	1.02846698
39	STK39	1.02364461
40	MAP4K2	1.01632468
41	CHEK2	0.99922452
42	EPHB2	0.99755612
43	AURKA	0.91242145
44	MAP3K4	0.90324532
45	CDC7	0.89924342
46	MYLK	0.89545442
47	ZAK	0.88704875
48	ALK	0.87635838
49	TIE1	0.87126991
50	PRKCZ	0.81036869
51	IRAK3	0.79929350
52	MINK1	0.78846441
53	PKN1	0.78284294
54	EPHA4	0.78201933
55	NTRK2	0.77142202
56	IKBKB	0.73415696
57	CSNK1E	0.70750930
58	PIM2	0.70392164
59	PRKCH	0.65927361
60	STK11	0.65783034
61	ICK	0.65608931
62	BRAF	0.64666154
63	CAMK1	0.61940153
64	PRKCG	0.61520793
65	CSNK2A2	0.60534479
66	SYK	0.60183849
67	PRKCD	0.60061181
68	PDK2	0.59294427
69	CSNK1G2	0.57016381
70	BCKDK	0.55269970
71	OXSR1	0.53006639
72	STK38L	0.51891131
73	CHUK	0.48446078
74	AKT2	0.47244210
75	ADRBK1	0.46844845
76	PAK6	0.45930376
77	TRPM7	0.45816044
78	RPS6KA2	0.45388803
79	MAPK11	0.45013895
80	PRKACA	0.45012143
81	CDK19	0.44873191
82	DYRK1B	0.43404130
83	CSF1R	0.42326090
84	CDK7	0.42079413
85	PRKDC	0.41199093
86	CSNK1D	0.41120789
87	MAPK12	0.37962800
88	PTK6	0.36876043
89	CSNK2A1	0.36693742
90	EEF2K	0.34446390
91	CDC42BPA	0.34008523
92	MAP2K2	0.33972401
93	INSR	0.33533237
94	VRK2	0.32524813
95	MTOR	0.32517454
96	PRKG1	0.32245590
97	DYRK3	0.32129120
98	WNK1	0.32069966
99	HIPK2	0.31841211
100	AURKB	0.31766569

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	5.30601979
2	Oxidative phosphorylation_Homo sapiens_hsa00190	5.09396475
3	Parkinsons disease_Homo sapiens_hsa05012	4.18401132
4	Systemic lupus erythematosus_Homo sapiens_hsa05322	3.75527205
5	Alzheimers disease_Homo sapiens_hsa05010	3.31680754
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.04993381
7	Cardiac muscle contraction_Homo sapiens_hsa04260	3.02144061
8	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.93452386
9	Huntingtons disease_Homo sapiens_hsa05016	2.84152524
10	Alcoholism_Homo sapiens_hsa05034	2.45736911
11	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.25745802
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23116083
13	Asthma_Homo sapiens_hsa05310	2.07812659
14	RNA polymerase_Homo sapiens_hsa03020	1.98125069
15	Steroid biosynthesis_Homo sapiens_hsa00100	1.93520674
16	DNA replication_Homo sapiens_hsa03030	1.78242917
17	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.75700232
18	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.66331645
19	Nucleotide excision repair_Homo sapiens_hsa03420	1.62493413
20	Proteasome_Homo sapiens_hsa03050	1.56169150
21	Allograft rejection_Homo sapiens_hsa05330	1.53542857
22	Sulfur relay system_Homo sapiens_hsa04122	1.51717740
23	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.47988081
24	Mismatch repair_Homo sapiens_hsa03430	1.46640821
25	Nicotine addiction_Homo sapiens_hsa05033	1.30402870
26	Basal transcription factors_Homo sapiens_hsa03022	1.29785837
27	Graft-versus-host disease_Homo sapiens_hsa05332	1.27648822
28	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.21504136
29	Rheumatoid arthritis_Homo sapiens_hsa05323	1.17150294
30	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.16921722
31	Homologous recombination_Homo sapiens_hsa03440	1.12414189
32	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.11424492
33	Tryptophan metabolism_Homo sapiens_hsa00380	1.07301925
34	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.05352906
35	Primary immunodeficiency_Homo sapiens_hsa05340	0.93198991
36	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.92846421
37	Phagosome_Homo sapiens_hsa04145	0.92621988
38	Pyrimidine metabolism_Homo sapiens_hsa00240	0.91796033
39	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.89834040
40	Mineral absorption_Homo sapiens_hsa04978	0.89551714
41	PPAR signaling pathway_Homo sapiens_hsa03320	0.89529635
42	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.84801915
43	Type I diabetes mellitus_Homo sapiens_hsa04940	0.84649446
44	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.82373778
45	Collecting duct acid secretion_Homo sapiens_hsa04966	0.77521154
46	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.71606592
47	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.71429224
48	Phenylalanine metabolism_Homo sapiens_hsa00360	0.68195953
49	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.67360931
50	Peroxisome_Homo sapiens_hsa04146	0.66175909
51	Base excision repair_Homo sapiens_hsa03410	0.65992772
52	Butanoate metabolism_Homo sapiens_hsa00650	0.60473688
53	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.60029876
54	RNA degradation_Homo sapiens_hsa03018	0.59660579
55	Glycerolipid metabolism_Homo sapiens_hsa00561	0.59049868
56	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.58181396
57	One carbon pool by folate_Homo sapiens_hsa00670	0.56620457
58	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.54110403
59	Protein export_Homo sapiens_hsa03060	0.52506638
60	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.52349917
61	Sphingolipid metabolism_Homo sapiens_hsa00600	0.52114078
62	Metabolic pathways_Homo sapiens_hsa01100	0.48701324
63	GABAergic synapse_Homo sapiens_hsa04727	0.47070802
64	Glutamatergic synapse_Homo sapiens_hsa04724	0.45057294
65	Tyrosine metabolism_Homo sapiens_hsa00350	0.42465088
66	Morphine addiction_Homo sapiens_hsa05032	0.41906788
67	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.38555606
68	Antigen processing and presentation_Homo sapiens_hsa04612	0.37805094
69	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.33787997
70	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.31497115
71	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.31259485
72	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.31014440
73	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.30468447
74	Spliceosome_Homo sapiens_hsa03040	0.29517882
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.25201209
76	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.24767726
77	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.23984778
78	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.23633569
79	Malaria_Homo sapiens_hsa05144	0.23315725
80	Viral myocarditis_Homo sapiens_hsa05416	0.22376486
81	Lysosome_Homo sapiens_hsa04142	0.19764410
82	Fat digestion and absorption_Homo sapiens_hsa04975	0.19326344
83	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.18494289
84	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.17806368
85	Chemical carcinogenesis_Homo sapiens_hsa05204	0.17335848
86	Arginine and proline metabolism_Homo sapiens_hsa00330	0.16894210
87	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.16764877
88	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.14778428
89	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.14010865
90	Ether lipid metabolism_Homo sapiens_hsa00565	0.13364099
91	Purine metabolism_Homo sapiens_hsa00230	0.12042711
92	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.11851775
93	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.10710733
94	Glutathione metabolism_Homo sapiens_hsa00480	0.10535362
95	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.10215389
96	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.10032901
97	Linoleic acid metabolism_Homo sapiens_hsa00591	0.09770736
98	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.07297894
99	Phototransduction_Homo sapiens_hsa04744	0.07087821
100	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.06221277

COX6A1P2

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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