ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	proteasome assembly (GO:0043248)	4.59752583
2	piRNA metabolic process (GO:0034587)	4.56500420
3	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.48815917
4	synapsis (GO:0007129)	4.37541226
5	protein localization to cilium (GO:0061512)	4.30324481
6	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.28124699
7	DNA methylation involved in gamete generation (GO:0043046)	4.00822693
8	neuron fate determination (GO:0048664)	3.79457210
9	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.65804008
10	ATP synthesis coupled proton transport (GO:0015986)	3.65804008
11	rRNA modification (GO:0000154)	3.59495337
12	protein complex biogenesis (GO:0070271)	3.57065781
13	male meiosis (GO:0007140)	3.55629788
14	rRNA methylation (GO:0031167)	3.54933086
15	mitochondrial respiratory chain complex assembly (GO:0033108)	3.43122329
16	neuron fate specification (GO:0048665)	3.41949667
17	DNA damage response, detection of DNA damage (GO:0042769)	3.41744558
18	heart field specification (GO:0003128)	3.40327266
19	secondary heart field specification (GO:0003139)	3.40327266
20	aspartate family amino acid catabolic process (GO:0009068)	3.37480141
21	lysine metabolic process (GO:0006553)	3.37155709
22	lysine catabolic process (GO:0006554)	3.37155709
23	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.23825368
24	regulation of mitotic spindle checkpoint (GO:1903504)	3.23825368
25	intraciliary transport (GO:0042073)	3.23362329
26	kynurenine metabolic process (GO:0070189)	3.22836366
27	cullin deneddylation (GO:0010388)	3.15498465
28	male meiosis I (GO:0007141)	3.15249259
29	sequestering of actin monomers (GO:0042989)	3.10092425
30	regulation of cardioblast proliferation (GO:0003264)	3.08942315
31	regulation of secondary heart field cardioblast proliferation (GO:0003266)	3.08942315
32	respiratory chain complex IV assembly (GO:0008535)	3.05634178
33	tryptophan metabolic process (GO:0006568)	3.01609345
34	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.01131367
35	NADH dehydrogenase complex assembly (GO:0010257)	3.01131367
36	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.01131367
37	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.96486498
38	chromosome organization involved in meiosis (GO:0070192)	2.94299563
39	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.93437943
40	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.93437943
41	gamma-aminobutyric acid transport (GO:0015812)	2.92803685
42	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.92066949
43	pseudouridine synthesis (GO:0001522)	2.90937132
44	regulation of mitochondrial translation (GO:0070129)	2.90567851
45	organelle disassembly (GO:1903008)	2.89769232
46	histone H2A acetylation (GO:0043968)	2.89765672
47	ubiquinone biosynthetic process (GO:0006744)	2.87663816
48	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.87284412
49	resolution of meiotic recombination intermediates (GO:0000712)	2.85738481
50	ubiquinone metabolic process (GO:0006743)	2.84519415
51	meiotic nuclear division (GO:0007126)	2.84054255
52	positive regulation of respiratory burst (GO:0060267)	2.82048462
53	protein deneddylation (GO:0000338)	2.81790814
54	regulation of meiosis I (GO:0060631)	2.81235313
55	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.79901704
56	protein neddylation (GO:0045116)	2.79056547
57	attachment of spindle microtubules to kinetochore (GO:0008608)	2.77994049
58	cellular biogenic amine catabolic process (GO:0042402)	2.77938585
59	amine catabolic process (GO:0009310)	2.77938585
60	preassembly of GPI anchor in ER membrane (GO:0016254)	2.77788921
61	mannosylation (GO:0097502)	2.77324036
62	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.76272613
63	tryptophan catabolic process (GO:0006569)	2.75497577
64	indole-containing compound catabolic process (GO:0042436)	2.75497577
65	indolalkylamine catabolic process (GO:0046218)	2.75497577
66	electron transport chain (GO:0022900)	2.74802945
67	protein-cofactor linkage (GO:0018065)	2.73995184
68	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.73771364
69	respiratory electron transport chain (GO:0022904)	2.72931898
70	DNA deamination (GO:0045006)	2.72556425
71	protein heterotetramerization (GO:0051290)	2.72514961
72	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.70775571
73	exocrine pancreas development (GO:0031017)	2.69381350
74	positive regulation of glycolytic process (GO:0045821)	2.66991711
75	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.65149233
76	protein localization to kinetochore (GO:0034501)	2.65036441
77	regulation of helicase activity (GO:0051095)	2.63963576
78	chaperone-mediated protein transport (GO:0072321)	2.61784244
79	meiosis I (GO:0007127)	2.60666753
80	cytochrome complex assembly (GO:0017004)	2.60171228
81	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.59669989
82	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.59669989
83	meiotic chromosome segregation (GO:0045132)	2.59420837
84	positive regulation of ligase activity (GO:0051351)	2.58845765
85	tRNA processing (GO:0008033)	2.58022439
86	acrosome reaction (GO:0007340)	2.57957170
87	indolalkylamine metabolic process (GO:0006586)	2.56903931
88	termination of RNA polymerase III transcription (GO:0006386)	2.56279184
89	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.56279184
90	mitotic metaphase plate congression (GO:0007080)	2.55914733
91	negative regulation of ligase activity (GO:0051352)	2.55246277
92	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.55246277
93	reciprocal meiotic recombination (GO:0007131)	2.55182276
94	reciprocal DNA recombination (GO:0035825)	2.55182276
95	spinal cord motor neuron differentiation (GO:0021522)	2.52990111
96	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.52958486
97	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.52475904
98	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.52475904
99	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.52475904
100	negative regulation of meiosis (GO:0045835)	2.52251301

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.76110268
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.36132653
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.78383326
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.68903968
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.01783687
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.90444136
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.81466131
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.81333004
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.78098406
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.77387089
11	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.65931067
12	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.58437513
13	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.55000134
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.39350765
15	VDR_22108803_ChIP-Seq_LS180_Human	2.31948444
16	VDR_23849224_ChIP-Seq_CD4+_Human	2.18852029
17	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.18334644
18	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.15722475
19	ELK1_19687146_ChIP-ChIP_HELA_Human	2.11325596
20	IRF1_19129219_ChIP-ChIP_H3396_Human	2.10280926
21	TAF15_26573619_Chip-Seq_HEK293_Human	1.98510276
22	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.97508239
23	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.89314819
24	FUS_26573619_Chip-Seq_HEK293_Human	1.85779536
25	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.84555817
26	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.79939417
27	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.76280099
28	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.72296968
29	MYC_18940864_ChIP-ChIP_HL60_Human	1.71895612
30	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.70680536
31	DCP1A_22483619_ChIP-Seq_HELA_Human	1.68792455
32	EWS_26573619_Chip-Seq_HEK293_Human	1.68203193
33	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.65808426
34	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.65283326
35	GABP_19822575_ChIP-Seq_HepG2_Human	1.64049305
36	TTF2_22483619_ChIP-Seq_HELA_Human	1.60430883
37	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.58535261
38	FOXP3_21729870_ChIP-Seq_TREG_Human	1.57959394
39	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.56446856
40	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.56276667
41	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.44603984
42	GBX2_23144817_ChIP-Seq_PC3_Human	1.43188666
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.41898305
44	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.41830092
45	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.41538375
46	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.40842524
47	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.40316912
48	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.38745260
49	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.38685870
50	P300_19829295_ChIP-Seq_ESCs_Human	1.37045819
51	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.36282860
52	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.35489391
53	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.33430821
54	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.32421417
55	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.31442794
56	RNF2_27304074_Chip-Seq_NSC_Mouse	1.30874342
57	TP53_22573176_ChIP-Seq_HFKS_Human	1.30666657
58	XRN2_22483619_ChIP-Seq_HELA_Human	1.26390022
59	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.25282418
60	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.22342298
61	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.21656069
62	CBP_20019798_ChIP-Seq_JUKART_Human	1.21496232
63	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.21496232
64	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.19843332
65	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.19351801
66	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.18580578
67	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.18360976
68	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.18209024
69	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.15648436
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14630475
71	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14630475
72	BCAT_22108803_ChIP-Seq_LS180_Human	1.13195774
73	HTT_18923047_ChIP-ChIP_STHdh_Human	1.10711304
74	KDM5A_27292631_Chip-Seq_BREAST_Human	1.09543163
75	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.09444480
76	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.05144751
77	AR_25329375_ChIP-Seq_VCAP_Human	1.04049195
78	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.03980415
79	NANOG_19829295_ChIP-Seq_ESCs_Human	1.01900879
80	SOX2_19829295_ChIP-Seq_ESCs_Human	1.01900879
81	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.00637583
82	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.98624743
83	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.94222097
84	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.92719949
85	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.92180589
86	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.90701050
87	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.90675459
88	NCOR_22424771_ChIP-Seq_293T_Human	0.90601077
89	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.90212334
90	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.90141982
91	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.90107906
92	AR_20517297_ChIP-Seq_VCAP_Human	0.89879874
93	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	0.89204257
94	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.87611294
95	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	0.85877192
96	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.85501072
97	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.85013729
98	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.84595837
99	PHF8_20622853_ChIP-Seq_HELA_Human	0.83557195
100	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.83041341

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.04355460
2	MP0002822_catalepsy	3.43936973
3	MP0005084_abnormal_gallbladder_morpholo	3.15463754
4	MP0002653_abnormal_ependyma_morphology	3.00136201
5	MP0003195_calcinosis	2.54461619
6	MP0003136_yellow_coat_color	2.38188914
7	MP0010386_abnormal_urinary_bladder	2.30303341
8	MP0003693_abnormal_embryo_hatching	2.26180759
9	MP0001529_abnormal_vocalization	2.22234913
10	MP0003122_maternal_imprinting	2.19454649
11	MP0005410_abnormal_fertilization	2.17917674
12	MP0008058_abnormal_DNA_repair	2.17786030
13	MP0008995_early_reproductive_senescence	2.15219206
14	MP0002163_abnormal_gland_morphology	2.14183148
15	MP0006036_abnormal_mitochondrial_physio	2.08670447
16	MP0006072_abnormal_retinal_apoptosis	2.07659981
17	MP0009046_muscle_twitch	1.92889097
18	MP0000631_abnormal_neuroendocrine_gland	1.88985444
19	MP0002210_abnormal_sex_determination	1.86574932
20	MP0003786_premature_aging	1.81172021
21	MP0006035_abnormal_mitochondrial_morpho	1.77966964
22	MP0005379_endocrine/exocrine_gland_phen	1.77795450
23	MP0001929_abnormal_gametogenesis	1.74665870
24	MP0004145_abnormal_muscle_electrophysio	1.73239620
25	MP0005645_abnormal_hypothalamus_physiol	1.70727358
26	MP0005171_absent_coat_pigmentation	1.69104240
27	MP0002736_abnormal_nociception_after	1.69021986
28	MP0003718_maternal_effect	1.68076744
29	MP0005423_abnormal_somatic_nervous	1.67523381
30	MP0003880_abnormal_central_pattern	1.66593258
31	MP0003283_abnormal_digestive_organ	1.65974670
32	MP0005085_abnormal_gallbladder_physiolo	1.60761579
33	MP0002102_abnormal_ear_morphology	1.59792022
34	MP0002277_abnormal_respiratory_mucosa	1.59449805
35	MP0006292_abnormal_olfactory_placode	1.57807946
36	MP0001986_abnormal_taste_sensitivity	1.55542384
37	MP0004215_abnormal_myocardial_fiber	1.55410736
38	MP0005220_abnormal_exocrine_pancreas	1.55056079
39	MP0002638_abnormal_pupillary_reflex	1.54431772
40	MP0001968_abnormal_touch/_nociception	1.52548358
41	MP0002928_abnormal_bile_duct	1.51559428
42	MP0003698_abnormal_male_reproductive	1.48526820
43	MP0005365_abnormal_bile_salt	1.46970483
44	MP0004142_abnormal_muscle_tone	1.43121400
45	MP0006276_abnormal_autonomic_nervous	1.42372818
46	MP0002909_abnormal_adrenal_gland	1.40542835
47	MP0000653_abnormal_sex_gland	1.38908498
48	MP0001145_abnormal_male_reproductive	1.38228922
49	MP0002272_abnormal_nervous_system	1.37199991
50	MP0001905_abnormal_dopamine_level	1.36108644
51	MP0003252_abnormal_bile_duct	1.35007945
52	MP0008875_abnormal_xenobiotic_pharmacok	1.33767485
53	MP0003121_genomic_imprinting	1.29153704
54	MP0002751_abnormal_autonomic_nervous	1.23832137
55	MP0009745_abnormal_behavioral_response	1.22062717
56	MP0002735_abnormal_chemical_nociception	1.19601097
57	MP0008872_abnormal_physiological_respon	1.15756002
58	MP0004147_increased_porphyrin_level	1.14930906
59	MP0005253_abnormal_eye_physiology	1.12013530
60	MP0003111_abnormal_nucleus_morphology	1.10961347
61	MP0008007_abnormal_cellular_replicative	1.10084453
62	MP0008932_abnormal_embryonic_tissue	1.05971379
63	MP0009672_abnormal_birth_weight	1.05963655
64	MP0003077_abnormal_cell_cycle	1.04368718
65	MP0000372_irregular_coat_pigmentation	1.03128254
66	MP0003119_abnormal_digestive_system	1.02616942
67	MP0002837_dystrophic_cardiac_calcinosis	1.01041837
68	MP0002234_abnormal_pharynx_morphology	0.97382378
69	MP0002184_abnormal_innervation	0.97234178
70	MP0003567_abnormal_fetal_cardiomyocyte	0.95972866
71	MP0002229_neurodegeneration	0.93436238
72	MP0000955_abnormal_spinal_cord	0.93078519
73	MP0001501_abnormal_sleep_pattern	0.91148174
74	MP0010094_abnormal_chromosome_stability	0.90483395
75	MP0001919_abnormal_reproductive_system	0.89904016
76	MP0002067_abnormal_sensory_capabilities	0.89738497
77	MP0000358_abnormal_cell_content/	0.89370992
78	MP0002557_abnormal_social/conspecific_i	0.88547674
79	MP0001970_abnormal_pain_threshold	0.88422261
80	MP0002161_abnormal_fertility/fecundity	0.87838281
81	MP0002282_abnormal_trachea_morphology	0.87183910
82	MP0008789_abnormal_olfactory_epithelium	0.86588536
83	MP0003186_abnormal_redox_activity	0.85611156
84	MP0004957_abnormal_blastocyst_morpholog	0.85467153
85	MP0002572_abnormal_emotion/affect_behav	0.84418059
86	MP0004782_abnormal_surfactant_physiolog	0.83985480
87	MP0000778_abnormal_nervous_system	0.83600554
88	MP0001944_abnormal_pancreas_morphology	0.83137554
89	MP0003787_abnormal_imprinting	0.82900577
90	MP0002332_abnormal_exercise_endurance	0.81873142
91	MP0005389_reproductive_system_phenotype	0.81713126
92	MP0005551_abnormal_eye_electrophysiolog	0.80785437
93	MP0002876_abnormal_thyroid_physiology	0.78468742
94	MP0001119_abnormal_female_reproductive	0.78259674
95	MP0002693_abnormal_pancreas_physiology	0.78210076
96	MP0005332_abnormal_amino_acid	0.78201853
97	MP0003646_muscle_fatigue	0.75062824
98	MP0002160_abnormal_reproductive_system	0.74662773
99	MP0005646_abnormal_pituitary_gland	0.74541395
100	MP0002733_abnormal_thermal_nociception	0.73448144

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoglycemic coma (HP:0001325)	4.17809032
2	Methylmalonic acidemia (HP:0002912)	3.73551947
3	Acute necrotizing encephalopathy (HP:0006965)	3.65442408
4	Abnormal mitochondria in muscle tissue (HP:0008316)	3.58105227
5	Hyperinsulinemic hypoglycemia (HP:0000825)	3.57995947
6	Hypoglycemic seizures (HP:0002173)	3.56192579
7	Increased CSF lactate (HP:0002490)	3.47775040
8	Mitochondrial inheritance (HP:0001427)	3.45653353
9	Increased hepatocellular lipid droplets (HP:0006565)	3.45422030
10	Tubulointerstitial nephritis (HP:0001970)	3.40279630
11	Lipid accumulation in hepatocytes (HP:0006561)	3.37679315
12	Hepatic necrosis (HP:0002605)	3.28898237
13	Hepatocellular necrosis (HP:0001404)	3.20389431
14	Acute encephalopathy (HP:0006846)	3.16798312
15	Progressive macrocephaly (HP:0004481)	3.04817949
16	Pancreatic islet-cell hyperplasia (HP:0004510)	3.04548561
17	Ketoacidosis (HP:0001993)	3.02207642
18	Septo-optic dysplasia (HP:0100842)	2.96291525
19	Methylmalonic aciduria (HP:0012120)	2.90298511
20	Abnormality of the anterior horn cell (HP:0006802)	2.89704055
21	Degeneration of anterior horn cells (HP:0002398)	2.89704055
22	Generalized aminoaciduria (HP:0002909)	2.83159378
23	Renal Fanconi syndrome (HP:0001994)	2.74508876
24	Long foot (HP:0001833)	2.69245205
25	Increased intramyocellular lipid droplets (HP:0012240)	2.62208876
26	Delayed CNS myelination (HP:0002188)	2.61154426
27	Pancreatic cysts (HP:0001737)	2.59070386
28	Insulin-resistant diabetes mellitus (HP:0000831)	2.56775369
29	Increased serum lactate (HP:0002151)	2.56294935
30	Aplasia/hypoplasia of the uterus (HP:0008684)	2.54055033
31	Abnormality of the labia minora (HP:0012880)	2.52772408
32	Abnormality of urine glucose concentration (HP:0011016)	2.50591790
33	Glycosuria (HP:0003076)	2.50591790
34	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.48703555
35	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.48703555
36	Nephronophthisis (HP:0000090)	2.47805933
37	Hypothermia (HP:0002045)	2.46588677
38	Abnormality of the renal cortex (HP:0011035)	2.46300472
39	Optic nerve hypoplasia (HP:0000609)	2.39571918
40	Tubulointerstitial abnormality (HP:0001969)	2.37374991
41	Type II lissencephaly (HP:0007260)	2.37209433
42	Abnormality of the pancreatic islet cells (HP:0006476)	2.35276617
43	Abnormality of endocrine pancreas physiology (HP:0012093)	2.35276617
44	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.29288248
45	Absent septum pellucidum (HP:0001331)	2.29120938
46	Mesangial abnormality (HP:0001966)	2.27372465
47	Congenital, generalized hypertrichosis (HP:0004540)	2.27276361
48	Short nail (HP:0001799)	2.27094965
49	Abnormality of vitamin B metabolism (HP:0004340)	2.23269476
50	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.20991672
51	Increased muscle lipid content (HP:0009058)	2.19690017
52	Supernumerary spleens (HP:0009799)	2.19362138
53	Ketosis (HP:0001946)	2.18669390
54	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.17741163
55	Symptomatic seizures (HP:0011145)	2.16237308
56	Colon cancer (HP:0003003)	2.15567219
57	Pancreatic fibrosis (HP:0100732)	2.15350980
58	Abnormality of the renal medulla (HP:0100957)	2.13581606
59	Lactic acidosis (HP:0003128)	2.11051608
60	Cerebral edema (HP:0002181)	2.10737492
61	Large for gestational age (HP:0001520)	2.08835975
62	Azoospermia (HP:0000027)	2.07663701
63	Ependymoma (HP:0002888)	2.07206297
64	Hyperglycemia (HP:0003074)	2.06916604
65	Congenital stationary night blindness (HP:0007642)	2.04332372
66	Severe muscular hypotonia (HP:0006829)	2.02901319
67	3-Methylglutaconic aciduria (HP:0003535)	2.01106772
68	Upper limb muscle weakness (HP:0003484)	2.01000709
69	Enlarged penis (HP:0000040)	2.00113335
70	Cystic liver disease (HP:0006706)	1.99882073
71	Abnormality of the septum pellucidum (HP:0007375)	1.99579415
72	Optic disc pallor (HP:0000543)	1.98741709
73	True hermaphroditism (HP:0010459)	1.98204125
74	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.94416071
75	Abnormal drinking behavior (HP:0030082)	1.93587462
76	Polydipsia (HP:0001959)	1.93587462
77	Exertional dyspnea (HP:0002875)	1.92534342
78	Abnormality of renal resorption (HP:0011038)	1.91526533
79	Tubular atrophy (HP:0000092)	1.89734093
80	Gonadotropin excess (HP:0000837)	1.87766479
81	Lissencephaly (HP:0001339)	1.86664210
82	Delayed myelination (HP:0012448)	1.86581507
83	Ulnar claw (HP:0001178)	1.85204246
84	Cerebellar dysplasia (HP:0007033)	1.84200996
85	Concave nail (HP:0001598)	1.83613017
86	Medial flaring of the eyebrow (HP:0010747)	1.83367048
87	Abdominal situs inversus (HP:0003363)	1.82595253
88	Abnormality of abdominal situs (HP:0011620)	1.82595253
89	Exercise intolerance (HP:0003546)	1.82108821
90	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.81159151
91	Hyperphosphaturia (HP:0003109)	1.80741088
92	Abnormality of midbrain morphology (HP:0002418)	1.80323574
93	Molar tooth sign on MRI (HP:0002419)	1.80323574
94	Maternal diabetes (HP:0009800)	1.80121297
95	Renal cortical cysts (HP:0000803)	1.79735647
96	Abnormal spermatogenesis (HP:0008669)	1.79034133
97	Retinal atrophy (HP:0001105)	1.77606273
98	Sclerocornea (HP:0000647)	1.77194493
99	Respiratory failure (HP:0002878)	1.76031884
100	Tongue fasciculations (HP:0001308)	1.74548588

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	5.50871710
2	MAP4K2	3.73799172
3	ZAK	3.22757157
4	EIF2AK1	3.08062541
5	WNK3	3.03373341
6	PINK1	2.86498282
7	TSSK6	2.73287810
8	PNCK	2.49398500
9	VRK1	2.23602064
10	VRK2	2.22561463
11	EIF2AK3	2.17235860
12	ADRBK2	2.11420821
13	NEK1	2.00123451
14	BUB1	1.79506649
15	STK16	1.74293319
16	PASK	1.71248529
17	SRPK1	1.69341092
18	BRSK2	1.69236531
19	NUAK1	1.65774850
20	PLK2	1.64791159
21	PLK3	1.63668654
22	PLK4	1.63154149
23	MST4	1.55453890
24	CASK	1.52180339
25	WEE1	1.46953883
26	TTK	1.44745486
27	BMPR1B	1.43047634
28	LMTK2	1.38995882
29	GRK1	1.36109525
30	TLK1	1.35245167
31	GRK7	1.31677591
32	BRSK1	1.30343522
33	TAF1	1.27996417
34	OXSR1	1.26248050
35	TRIM28	1.22050191
36	TIE1	1.15760271
37	PHKG2	1.15642646
38	PHKG1	1.15642646
39	MAP3K12	1.15178008
40	NME1	1.12019335
41	MAPK15	1.10946437
42	MKNK2	1.02233981
43	TNIK	1.00123346
44	TAOK3	0.95903813
45	CDK19	0.90548789
46	STK38L	0.87251107
47	MKNK1	0.83235531
48	MAPKAPK5	0.81531573
49	CSNK1G3	0.80944666
50	PLK1	0.78395421
51	LIMK1	0.77931719
52	PDK2	0.77817402
53	GRK5	0.73305901
54	DYRK2	0.71138574
55	BCR	0.68250416
56	PRKCE	0.62545587
57	MAPK13	0.62343133
58	EIF2AK2	0.61944182
59	CSNK1G1	0.61777164
60	BCKDK	0.60784120
61	ATR	0.60172947
62	WNK4	0.60089225
63	ADRBK1	0.57040729
64	CSNK1A1L	0.55780051
65	RPS6KA5	0.55066772
66	CSNK1G2	0.53823236
67	CAMKK2	0.53786115
68	AURKA	0.53418399
69	CDK8	0.52904784
70	PTK2B	0.51596104
71	AURKB	0.51265501
72	PRKCG	0.51045310
73	CSNK1E	0.49976026
74	FRK	0.48763279
75	MAP3K9	0.47497439
76	ERBB3	0.45402111
77	ATM	0.43696146
78	CSNK2A1	0.41359762
79	EPHA4	0.40332281
80	MAP2K7	0.40120650
81	CAMK2A	0.37287569
82	TESK2	0.36874410
83	MARK1	0.35471131
84	PRKACB	0.35351375
85	TGFBR1	0.35306917
86	CSNK2A2	0.34226436
87	DAPK1	0.34166091
88	PAK3	0.33252646
89	AKT2	0.32027396
90	CSNK1A1	0.31819480
91	MAP2K6	0.31563984
92	NTRK3	0.30951057
93	STK39	0.30665170
94	DYRK3	0.30541738
95	PRKACA	0.27863820
96	STK3	0.27415825
97	PRKCQ	0.25485670
98	CAMK2B	0.24830006
99	MAP3K4	0.24303894
100	CHEK2	0.24246064

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.35429038
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.35136680
3	Parkinsons disease_Homo sapiens_hsa05012	3.06832032
4	Proteasome_Homo sapiens_hsa03050	3.04297706
5	Propanoate metabolism_Homo sapiens_hsa00640	2.52906170
6	Mismatch repair_Homo sapiens_hsa03430	2.41909156
7	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.14918329
8	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.12456749
9	Huntingtons disease_Homo sapiens_hsa05016	2.07668061
10	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.01759733
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.98764748
12	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.96431500
13	Basal transcription factors_Homo sapiens_hsa03022	1.87991366
14	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.86027194
15	RNA polymerase_Homo sapiens_hsa03020	1.85118000
16	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.76217922
17	Homologous recombination_Homo sapiens_hsa03440	1.72272726
18	Alzheimers disease_Homo sapiens_hsa05010	1.65651277
19	RNA transport_Homo sapiens_hsa03013	1.64491388
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.59374208
21	Fanconi anemia pathway_Homo sapiens_hsa03460	1.49912492
22	RNA degradation_Homo sapiens_hsa03018	1.45560287
23	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.45208154
24	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.45042916
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.44755065
26	Pyruvate metabolism_Homo sapiens_hsa00620	1.43966671
27	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.42548912
28	One carbon pool by folate_Homo sapiens_hsa00670	1.40414910
29	Butanoate metabolism_Homo sapiens_hsa00650	1.39020434
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.36881998
31	Cardiac muscle contraction_Homo sapiens_hsa04260	1.36113057
32	Fatty acid elongation_Homo sapiens_hsa00062	1.34446299
33	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.34215327
34	Tryptophan metabolism_Homo sapiens_hsa00380	1.33291323
35	Collecting duct acid secretion_Homo sapiens_hsa04966	1.30253726
36	Ribosome_Homo sapiens_hsa03010	1.27599641
37	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.24138094
38	Phototransduction_Homo sapiens_hsa04744	1.22757103
39	Nucleotide excision repair_Homo sapiens_hsa03420	1.20309183
40	Selenocompound metabolism_Homo sapiens_hsa00450	1.16376661
41	Spliceosome_Homo sapiens_hsa03040	1.12311030
42	Sulfur relay system_Homo sapiens_hsa04122	1.10383574
43	Sulfur metabolism_Homo sapiens_hsa00920	1.03442791
44	DNA replication_Homo sapiens_hsa03030	1.03277838
45	Steroid biosynthesis_Homo sapiens_hsa00100	1.01399371
46	Regulation of autophagy_Homo sapiens_hsa04140	0.98303764
47	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.93124934
48	beta-Alanine metabolism_Homo sapiens_hsa00410	0.93061954
49	Base excision repair_Homo sapiens_hsa03410	0.91018758
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.90527796
51	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.90090778
52	Carbon metabolism_Homo sapiens_hsa01200	0.90057209
53	Peroxisome_Homo sapiens_hsa04146	0.89519579
54	Purine metabolism_Homo sapiens_hsa00230	0.89495709
55	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.87208176
56	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.85545261
57	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.81997949
58	Metabolic pathways_Homo sapiens_hsa01100	0.80956213
59	Oocyte meiosis_Homo sapiens_hsa04114	0.79592960
60	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.78980355
61	Pyrimidine metabolism_Homo sapiens_hsa00240	0.77999072
62	Non-homologous end-joining_Homo sapiens_hsa03450	0.77087789
63	Ether lipid metabolism_Homo sapiens_hsa00565	0.75697634
64	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.75447813
65	Nitrogen metabolism_Homo sapiens_hsa00910	0.72254673
66	Chemical carcinogenesis_Homo sapiens_hsa05204	0.71633854
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.69042755
68	Cell cycle_Homo sapiens_hsa04110	0.68715630
69	Insulin secretion_Homo sapiens_hsa04911	0.68441673
70	Arginine biosynthesis_Homo sapiens_hsa00220	0.67621130
71	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.65855201
72	Nicotine addiction_Homo sapiens_hsa05033	0.65716031
73	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64380703
74	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.63780929
75	Retinol metabolism_Homo sapiens_hsa00830	0.62903053
76	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.62795953
77	Linoleic acid metabolism_Homo sapiens_hsa00591	0.62429645
78	Arginine and proline metabolism_Homo sapiens_hsa00330	0.62189943
79	Glutathione metabolism_Homo sapiens_hsa00480	0.61588110
80	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.60713692
81	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.59940980
82	Vibrio cholerae infection_Homo sapiens_hsa05110	0.59712900
83	Phenylalanine metabolism_Homo sapiens_hsa00360	0.59615547
84	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.56359529
85	GABAergic synapse_Homo sapiens_hsa04727	0.55322234
86	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.54723400
87	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.53566839
88	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.53394336
89	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.49760074
90	Tyrosine metabolism_Homo sapiens_hsa00350	0.48374011
91	Taste transduction_Homo sapiens_hsa04742	0.45512122
92	mRNA surveillance pathway_Homo sapiens_hsa03015	0.45506621
93	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.44734191
94	Alcoholism_Homo sapiens_hsa05034	0.43221654
95	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.43068214
96	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.41412876
97	Folate biosynthesis_Homo sapiens_hsa00790	0.41127229
98	Mineral absorption_Homo sapiens_hsa04978	0.36988089
99	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.36829706
100	Olfactory transduction_Homo sapiens_hsa04740	0.36153551

YWHAEP1

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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