ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.92818434
2	L-fucose catabolic process (GO:0042355)	5.42886356
3	fucose catabolic process (GO:0019317)	5.42886356
4	L-fucose metabolic process (GO:0042354)	5.42886356
5	response to pheromone (GO:0019236)	5.15518085
6	DNA deamination (GO:0045006)	4.22204284
7	cellular ketone body metabolic process (GO:0046950)	4.15926147
8	kynurenine metabolic process (GO:0070189)	4.02663305
9	respiratory chain complex IV assembly (GO:0008535)	4.00754667
10	tryptophan catabolic process (GO:0006569)	3.96771396
11	indole-containing compound catabolic process (GO:0042436)	3.96771396
12	indolalkylamine catabolic process (GO:0046218)	3.96771396
13	water-soluble vitamin biosynthetic process (GO:0042364)	3.87957423
14	protein complex biogenesis (GO:0070271)	3.75411016
15	cytochrome complex assembly (GO:0017004)	3.71360218
16	ketone body metabolic process (GO:1902224)	3.67024749
17	indolalkylamine metabolic process (GO:0006586)	3.63870571
18	tryptophan metabolic process (GO:0006568)	3.61052635
19	mitochondrial respiratory chain complex assembly (GO:0033108)	3.56963948
20	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.53085948
21	NADH dehydrogenase complex assembly (GO:0010257)	3.53085948
22	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.53085948
23	rRNA catabolic process (GO:0016075)	3.32350808
24	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.28795265
25	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.23458280
26	nephron tubule morphogenesis (GO:0072078)	3.22650484
27	nephron epithelium morphogenesis (GO:0072088)	3.22650484
28	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.08926121
29	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.08926121
30	indole-containing compound metabolic process (GO:0042430)	3.07861052
31	detection of light stimulus involved in sensory perception (GO:0050962)	3.05041610
32	detection of light stimulus involved in visual perception (GO:0050908)	3.05041610
33	piRNA metabolic process (GO:0034587)	3.04378869
34	axoneme assembly (GO:0035082)	3.04183785
35	primary amino compound metabolic process (GO:1901160)	3.04127925
36	platelet dense granule organization (GO:0060155)	3.03105164
37	nonmotile primary cilium assembly (GO:0035058)	3.01564632
38	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.99880306
39	ATP synthesis coupled proton transport (GO:0015986)	2.99880306
40	fucosylation (GO:0036065)	2.95573518
41	ubiquinone biosynthetic process (GO:0006744)	2.95134759
42	preassembly of GPI anchor in ER membrane (GO:0016254)	2.92999856
43	negative regulation of telomere maintenance (GO:0032205)	2.87327331
44	protein-cofactor linkage (GO:0018065)	2.83787489
45	ubiquinone metabolic process (GO:0006743)	2.80969261
46	dopamine transport (GO:0015872)	2.80954363
47	epithelial cilium movement (GO:0003351)	2.77856725
48	positive regulation of defense response to virus by host (GO:0002230)	2.74203798
49	cellular biogenic amine catabolic process (GO:0042402)	2.73203211
50	amine catabolic process (GO:0009310)	2.73203211
51	protein localization to cilium (GO:0061512)	2.72430654
52	multicellular organism reproduction (GO:0032504)	2.71050002
53	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.70856911
54	protein import into peroxisome matrix (GO:0016558)	2.70500096
55	kidney morphogenesis (GO:0060993)	2.69034097
56	reflex (GO:0060004)	2.67214566
57	regulation of glucokinase activity (GO:0033131)	2.64927724
58	regulation of hexokinase activity (GO:1903299)	2.64927724
59	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.64702467
60	cAMP catabolic process (GO:0006198)	2.63990340
61	intracellular protein transmembrane import (GO:0044743)	2.63229260
62	protein polyglutamylation (GO:0018095)	2.61886469
63	synapsis (GO:0007129)	2.58965694
64	regulation of cilium movement (GO:0003352)	2.58571160
65	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.58387863
66	serotonin metabolic process (GO:0042428)	2.57364378
67	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.57042373
68	regulation of action potential (GO:0098900)	2.56396137
69	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.55606821
70	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.54804349
71	behavioral response to ethanol (GO:0048149)	2.54661665
72	pyrimidine nucleobase catabolic process (GO:0006208)	2.53941310
73	gamma-aminobutyric acid transport (GO:0015812)	2.50063892
74	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.49547068
75	cilium organization (GO:0044782)	2.48226061
76	sulfation (GO:0051923)	2.47701933
77	neuronal action potential (GO:0019228)	2.47600883
78	DNA methylation involved in gamete generation (GO:0043046)	2.46455546
79	rhodopsin mediated signaling pathway (GO:0016056)	2.46381478
80	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.46250690
81	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.45972474
82	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.45900182
83	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.45868213
84	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.45868213
85	cornea development in camera-type eye (GO:0061303)	2.44709789
86	mannosylation (GO:0097502)	2.43634759
87	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.43604935
88	negative regulation of mast cell activation (GO:0033004)	2.43423444
89	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.40537995
90	synaptic transmission, cholinergic (GO:0007271)	2.40524850
91	cilium assembly (GO:0042384)	2.38661926
92	cilium morphogenesis (GO:0060271)	2.38262502
93	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.37518817
94	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.37486009
95	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.35941640
96	positive regulation of fatty acid transport (GO:2000193)	2.35673655
97	replication fork processing (GO:0031297)	2.34964608
98	nucleobase catabolic process (GO:0046113)	2.34896976
99	transmission of nerve impulse (GO:0019226)	2.33264380
100	reciprocal DNA recombination (GO:0035825)	2.32629450

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.54140054
2	VDR_22108803_ChIP-Seq_LS180_Human	3.75641662
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.07714384
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.59854142
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.59618163
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.38808043
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.37926161
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.36503459
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.28492951
10	EWS_26573619_Chip-Seq_HEK293_Human	2.08760487
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.07664446
12	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	2.07475401
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.04315631
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.03609965
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.01957502
16	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.00805736
17	FUS_26573619_Chip-Seq_HEK293_Human	1.99018115
18	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.98216892
19	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.95484581
20	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.90238040
21	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.88245067
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.84996642
23	ER_23166858_ChIP-Seq_MCF-7_Human	1.82840413
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.76338530
25	P300_19829295_ChIP-Seq_ESCs_Human	1.76077480
26	IRF1_19129219_ChIP-ChIP_H3396_Human	1.74257182
27	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.68524293
28	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.60112086
29	IGF1R_20145208_ChIP-Seq_DFB_Human	1.58350231
30	TP53_22573176_ChIP-Seq_HFKS_Human	1.56989051
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.55960205
32	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.54877931
33	REST_21632747_ChIP-Seq_MESCs_Mouse	1.53021347
34	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.47932468
35	MYC_18940864_ChIP-ChIP_HL60_Human	1.47487019
36	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.47198325
37	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.47198325
38	BCAT_22108803_ChIP-Seq_LS180_Human	1.46021813
39	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.43962774
40	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.40740897
41	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.40303199
42	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.40303199
43	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.39495350
44	SOX2_19829295_ChIP-Seq_ESCs_Human	1.36025963
45	NANOG_19829295_ChIP-Seq_ESCs_Human	1.36025963
46	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.34234380
47	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.32677917
48	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.32406605
49	STAT3_23295773_ChIP-Seq_U87_Human	1.28274245
50	VDR_23849224_ChIP-Seq_CD4+_Human	1.28190736
51	TCF4_23295773_ChIP-Seq_U87_Human	1.27303394
52	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.27255576
53	AR_25329375_ChIP-Seq_VCAP_Human	1.26632059
54	CBP_20019798_ChIP-Seq_JUKART_Human	1.25179211
55	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.25179211
56	HOXB7_26014856_ChIP-Seq_BT474_Human	1.24743026
57	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.24007621
58	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.22956287
59	AR_20517297_ChIP-Seq_VCAP_Human	1.22668786
60	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.21156745
61	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.20847785
62	TCF4_22108803_ChIP-Seq_LS180_Human	1.19992623
63	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.19652713
64	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.19113989
65	ERA_21632823_ChIP-Seq_H3396_Human	1.18752799
66	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.17849085
67	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.17229672
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.17132279
69	NCOR_22424771_ChIP-Seq_293T_Human	1.16855929
70	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.15335357
71	ELK1_19687146_ChIP-ChIP_HELA_Human	1.14862450
72	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.13341287
73	RNF2_27304074_Chip-Seq_NSC_Mouse	1.13164655
74	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.13139989
75	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11621078
76	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.10671949
77	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.10205476
78	SMAD4_21799915_ChIP-Seq_A2780_Human	1.09997619
79	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.09644448
80	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.09372124
81	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.09099926
82	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08409127
83	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.07750669
84	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.07341100
85	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.06901878
86	TAF2_19829295_ChIP-Seq_ESCs_Human	1.06812170
87	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.06352075
88	MYC_19829295_ChIP-Seq_ESCs_Human	1.04483117
89	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.04142040
90	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.03000973
91	NANOG_20526341_ChIP-Seq_ESCs_Human	1.02004742
92	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.01622900
93	AR_21572438_ChIP-Seq_LNCaP_Human	0.98817497
94	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.98456176
95	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.97552972
96	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.95996446
97	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.93953132
98	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.93809622
99	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.93042687
100	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91088823

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.58237349
2	MP0003136_yellow_coat_color	3.24951935
3	MP0008877_abnormal_DNA_methylation	2.79460553
4	MP0002638_abnormal_pupillary_reflex	2.50439206
5	MP0004147_increased_porphyrin_level	2.50316881
6	MP0004885_abnormal_endolymph	2.49258654
7	MP0002102_abnormal_ear_morphology	2.40935919
8	MP0002653_abnormal_ependyma_morphology	2.36366712
9	MP0000372_irregular_coat_pigmentation	2.36035350
10	MP0008875_abnormal_xenobiotic_pharmacok	2.24052836
11	MP0006072_abnormal_retinal_apoptosis	2.24025458
12	MP0005551_abnormal_eye_electrophysiolog	2.17310251
13	MP0002837_dystrophic_cardiac_calcinosis	2.13571640
14	MP0001968_abnormal_touch/_nociception	2.12609319
15	MP0009745_abnormal_behavioral_response	2.09547361
16	MP0009046_muscle_twitch	2.01250210
17	MP0001986_abnormal_taste_sensitivity	1.98851623
18	MP0004142_abnormal_muscle_tone	1.98745879
19	MP0004133_heterotaxia	1.97204984
20	MP0001485_abnormal_pinna_reflex	1.95254001
21	MP0000569_abnormal_digit_pigmentation	1.93983870
22	MP0005645_abnormal_hypothalamus_physiol	1.84922123
23	MP0005646_abnormal_pituitary_gland	1.83060108
24	MP0008872_abnormal_physiological_respon	1.82971059
25	MP0005377_hearing/vestibular/ear_phenot	1.80618727
26	MP0003878_abnormal_ear_physiology	1.80618727
27	MP0005084_abnormal_gallbladder_morpholo	1.77374930
28	MP0002938_white_spotting	1.72585067
29	MP0002138_abnormal_hepatobiliary_system	1.64203658
30	MP0002876_abnormal_thyroid_physiology	1.63630674
31	MP0006292_abnormal_olfactory_placode	1.62800897
32	MP0001529_abnormal_vocalization	1.62224482
33	MP0002736_abnormal_nociception_after	1.61408458
34	MP0005253_abnormal_eye_physiology	1.59285489
35	MP0002272_abnormal_nervous_system	1.58514304
36	MP0004043_abnormal_pH_regulation	1.56805205
37	MP0004742_abnormal_vestibular_system	1.55560897
38	MP0003646_muscle_fatigue	1.54164609
39	MP0001486_abnormal_startle_reflex	1.53711261
40	MP0003011_delayed_dark_adaptation	1.50435526
41	MP0000427_abnormal_hair_cycle	1.45241819
42	MP0000631_abnormal_neuroendocrine_gland	1.44859674
43	MP0002928_abnormal_bile_duct	1.43846944
44	MP0001501_abnormal_sleep_pattern	1.43298968
45	MP0002064_seizures	1.34911121
46	MP0005389_reproductive_system_phenotype	1.32910475
47	MP0006276_abnormal_autonomic_nervous	1.32566336
48	MP0002572_abnormal_emotion/affect_behav	1.31927302
49	MP0003880_abnormal_central_pattern	1.26308487
50	MP0000383_abnormal_hair_follicle	1.25581955
51	MP0002733_abnormal_thermal_nociception	1.25299746
52	MP0001970_abnormal_pain_threshold	1.23369122
53	MP0001984_abnormal_olfaction	1.22253121
54	MP0002735_abnormal_chemical_nociception	1.21193292
55	MP0002160_abnormal_reproductive_system	1.21020259
56	MP0003787_abnormal_imprinting	1.16925165
57	MP0002067_abnormal_sensory_capabilities	1.16543513
58	MP0001919_abnormal_reproductive_system	1.16331790
59	MP0005379_endocrine/exocrine_gland_phen	1.15673802
60	MP0004924_abnormal_behavior	1.15141502
61	MP0005386_behavior/neurological_phenoty	1.15141502
62	MP0002557_abnormal_social/conspecific_i	1.14329271
63	MP0008995_early_reproductive_senescence	1.14015348
64	MP0002277_abnormal_respiratory_mucosa	1.13675971
65	MP0003635_abnormal_synaptic_transmissio	1.10124569
66	MP0008058_abnormal_DNA_repair	1.09831744
67	MP0002063_abnormal_learning/memory/cond	1.08599631
68	MP0001905_abnormal_dopamine_level	1.08131064
69	MP0005174_abnormal_tail_pigmentation	1.05121861
70	MP0002163_abnormal_gland_morphology	1.05058402
71	MP0004145_abnormal_muscle_electrophysio	1.04465904
72	MP0000647_abnormal_sebaceous_gland	1.00925344
73	MP0001502_abnormal_circadian_rhythm	0.98602292
74	MP0000026_abnormal_inner_ear	0.98259653
75	MP0002751_abnormal_autonomic_nervous	0.97928288
76	MP0005195_abnormal_posterior_eye	0.96185481
77	MP0003718_maternal_effect	0.95118803
78	MP0004215_abnormal_myocardial_fiber	0.92133611
79	MP0003252_abnormal_bile_duct	0.92037521
80	MP0005171_absent_coat_pigmentation	0.86301332
81	MP0001293_anophthalmia	0.84777538
82	MP0002752_abnormal_somatic_nervous	0.84249744
83	MP0002734_abnormal_mechanical_nocicepti	0.84115201
84	MP0001963_abnormal_hearing_physiology	0.82628448
85	MP0000230_abnormal_systemic_arterial	0.81028308
86	MP0002229_neurodegeneration	0.80774112
87	MP0010386_abnormal_urinary_bladder	0.80201548
88	MP0002909_abnormal_adrenal_gland	0.79718075
89	MP0005423_abnormal_somatic_nervous	0.79499191
90	MP0003137_abnormal_impulse_conducting	0.79097337
91	MP0005332_abnormal_amino_acid	0.78498481
92	MP0005410_abnormal_fertilization	0.77280929
93	MP0005167_abnormal_blood-brain_barrier	0.75795761
94	MP0003119_abnormal_digestive_system	0.74309705
95	MP0003698_abnormal_male_reproductive	0.72187495
96	MP0002693_abnormal_pancreas_physiology	0.70121971
97	MP0001929_abnormal_gametogenesis	0.70105733
98	MP0000778_abnormal_nervous_system	0.69036413
99	MP0002210_abnormal_sex_determination	0.67319755
100	MP0003786_premature_aging	0.66469658

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.58790999
2	Abnormality of midbrain morphology (HP:0002418)	4.58790999
3	Pancreatic cysts (HP:0001737)	4.35582440
4	Pancreatic fibrosis (HP:0100732)	3.94896663
5	Nephronophthisis (HP:0000090)	3.93976271
6	True hermaphroditism (HP:0010459)	3.89639188
7	Congenital stationary night blindness (HP:0007642)	3.85267717
8	Type II lissencephaly (HP:0007260)	3.46087453
9	Abnormality of the renal medulla (HP:0100957)	3.32613143
10	Abnormality of the renal cortex (HP:0011035)	3.15807967
11	Concave nail (HP:0001598)	3.15363474
12	Congenital, generalized hypertrichosis (HP:0004540)	3.06084082
13	Abnormality of alanine metabolism (HP:0010916)	2.98377248
14	Hyperalaninemia (HP:0003348)	2.98377248
15	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.98377248
16	Inability to walk (HP:0002540)	2.94534132
17	Abnormal biliary tract physiology (HP:0012439)	2.75344030
18	Bile duct proliferation (HP:0001408)	2.75344030
19	Tubular atrophy (HP:0000092)	2.73890443
20	Chronic hepatic failure (HP:0100626)	2.71418471
21	Birth length less than 3rd percentile (HP:0003561)	2.70679939
22	Cystic liver disease (HP:0006706)	2.61356054
23	Attenuation of retinal blood vessels (HP:0007843)	2.58421262
24	Pendular nystagmus (HP:0012043)	2.57707249
25	Abolished electroretinogram (ERG) (HP:0000550)	2.50557275
26	Abnormality of the pons (HP:0007361)	2.49338628
27	Renal cortical cysts (HP:0000803)	2.44744558
28	Hypoplasia of the pons (HP:0012110)	2.41487968
29	Sclerocornea (HP:0000647)	2.40516047
30	Acute necrotizing encephalopathy (HP:0006965)	2.40085921
31	Medial flaring of the eyebrow (HP:0010747)	2.37604583
32	Decreased central vision (HP:0007663)	2.33975669
33	Polydipsia (HP:0001959)	2.30140433
34	Abnormal drinking behavior (HP:0030082)	2.30140433
35	Mitochondrial inheritance (HP:0001427)	2.29143430
36	Increased CSF lactate (HP:0002490)	2.28488710
37	Large for gestational age (HP:0001520)	2.27805834
38	Abnormal rod and cone electroretinograms (HP:0008323)	2.25552684
39	3-Methylglutaconic aciduria (HP:0003535)	2.24272907
40	Severe muscular hypotonia (HP:0006829)	2.23311427
41	Progressive inability to walk (HP:0002505)	2.18740840
42	Absent/shortened dynein arms (HP:0200106)	2.18600458
43	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.18600458
44	Optic disc pallor (HP:0000543)	2.17307301
45	Patellar aplasia (HP:0006443)	2.15727119
46	Keratoconus (HP:0000563)	2.14651817
47	Increased corneal curvature (HP:0100692)	2.14651817
48	Lissencephaly (HP:0001339)	2.13694724
49	Retinal dysplasia (HP:0007973)	2.13093838
50	Furrowed tongue (HP:0000221)	2.11893075
51	Hyperventilation (HP:0002883)	2.11842984
52	Acute encephalopathy (HP:0006846)	2.11675383
53	Cerebellar dysplasia (HP:0007033)	2.10553745
54	Anencephaly (HP:0002323)	2.10194913
55	Tachypnea (HP:0002789)	2.09435866
56	Methylmalonic acidemia (HP:0002912)	2.08581578
57	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.08521972
58	Abnormal number of erythroid precursors (HP:0012131)	2.07968973
59	Gaze-evoked nystagmus (HP:0000640)	2.07349704
60	Aplasia/hypoplasia of the uterus (HP:0008684)	2.06256568
61	Aplasia/Hypoplasia of the patella (HP:0006498)	2.04902556
62	Progressive macrocephaly (HP:0004481)	2.04001623
63	Progressive cerebellar ataxia (HP:0002073)	2.01660632
64	Abnormal respiratory epithelium morphology (HP:0012253)	2.01479007
65	Abnormal respiratory motile cilium morphology (HP:0005938)	2.01479007
66	Pachygyria (HP:0001302)	2.01007168
67	Abnormal mitochondria in muscle tissue (HP:0008316)	1.98782171
68	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.98720417
69	Confusion (HP:0001289)	1.96973352
70	Amelogenesis imperfecta (HP:0000705)	1.95401850
71	Chorioretinal atrophy (HP:0000533)	1.94598783
72	Congenital hepatic fibrosis (HP:0002612)	1.91072686
73	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.90628956
74	Male pseudohermaphroditism (HP:0000037)	1.90522293
75	Abnormality of the renal collecting system (HP:0004742)	1.90498173
76	Hypothermia (HP:0002045)	1.90115250
77	Abnormality of the labia minora (HP:0012880)	1.90087180
78	Polyuria (HP:0000103)	1.89778846
79	Hepatocellular necrosis (HP:0001404)	1.89663359
80	Optic nerve hypoplasia (HP:0000609)	1.89397074
81	Fair hair (HP:0002286)	1.87931226
82	Broad-based gait (HP:0002136)	1.87150174
83	Partial agenesis of the corpus callosum (HP:0001338)	1.84938571
84	Hepatic necrosis (HP:0002605)	1.82458067
85	Postaxial foot polydactyly (HP:0001830)	1.82248685
86	Gait imbalance (HP:0002141)	1.82015143
87	Mutism (HP:0002300)	1.81727891
88	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.81209062
89	Genetic anticipation (HP:0003743)	1.80740844
90	Stomach cancer (HP:0012126)	1.79400569
91	Clumsiness (HP:0002312)	1.79105524
92	Duplicated collecting system (HP:0000081)	1.77096404
93	Ketosis (HP:0001946)	1.74909163
94	Congenital primary aphakia (HP:0007707)	1.74405748
95	Abnormality of macular pigmentation (HP:0008002)	1.74318202
96	Methylmalonic aciduria (HP:0012120)	1.73547364
97	Decreased circulating renin level (HP:0003351)	1.73217234
98	IgG deficiency (HP:0004315)	1.72866827
99	Absent thumb (HP:0009777)	1.72261564
100	Increased serum lactate (HP:0002151)	1.70731644

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ADRBK2	4.34022093
2	FRK	4.05023013
3	WNK4	3.54456072
4	BMPR1B	3.47052532
5	ZAK	3.17360395
6	MAP4K2	2.96101372
7	WNK3	2.62103038
8	TLK1	2.58493929
9	PINK1	2.49036627
10	ACVR1B	2.28127342
11	GRK1	2.25719500
12	DAPK2	2.11738177
13	CASK	1.97479115
14	OXSR1	1.78418127
15	NUAK1	1.78100690
16	MAP3K4	1.68701773
17	MAPKAPK3	1.64912629
18	TGFBR1	1.64577553
19	MAPK13	1.61205151
20	TAOK3	1.60905707
21	STK39	1.50822236
22	TNIK	1.42544005
23	ADRBK1	1.27086797
24	VRK1	1.26596339
25	MAP2K7	1.26546719
26	MAPK15	1.26304141
27	CAMKK2	1.24237687
28	TXK	1.23213649
29	PIK3CA	1.22677446
30	DYRK2	1.13106513
31	BCKDK	1.05948878
32	PNCK	1.01822463
33	INSRR	1.01336220
34	MKNK2	0.98468908
35	MARK1	0.98188541
36	NTRK3	0.96703026
37	PAK3	0.94623095
38	TIE1	0.91141612
39	SIK2	0.90419582
40	PHKG1	0.89192944
41	PHKG2	0.89192944
42	PRKCE	0.84247384
43	MUSK	0.84103672
44	PRKCG	0.83779621
45	MAP2K6	0.82832798
46	NME1	0.81198009
47	BRSK2	0.80483224
48	CSNK1G2	0.80265630
49	PLK2	0.77686937
50	PASK	0.75111583
51	VRK2	0.72438697
52	RPS6KA5	0.71050936
53	CSNK1G1	0.69198008
54	PLK3	0.64689849
55	STK38L	0.64685983
56	CSNK1A1L	0.64438591
57	KIT	0.64008942
58	CSNK1G3	0.62882792
59	MAPKAPK5	0.61709820
60	MAP2K2	0.59279327
61	PLK4	0.58928365
62	IKBKB	0.58076167
63	PRKCQ	0.54311430
64	PTK2B	0.54055971
65	DYRK3	0.53923255
66	TRIM28	0.51701908
67	NTRK2	0.51251530
68	EPHA4	0.50921899
69	TSSK6	0.50711388
70	MKNK1	0.49649301
71	TEC	0.49488173
72	FGFR2	0.47460455
73	NEK2	0.47094936
74	IRAK1	0.46233382
75	GRK7	0.45754196
76	MAP2K1	0.45584110
77	CAMK2A	0.45178238
78	CAMKK1	0.43645491
79	PKN1	0.43491641
80	PRKACA	0.43393128
81	BCR	0.43116308
82	MAP2K4	0.42746869
83	CHUK	0.42265940
84	CAMK1	0.41654328
85	BMPR2	0.41486266
86	PRKCI	0.38359613
87	WNK1	0.38093301
88	STK11	0.37597322
89	CSNK1A1	0.37022895
90	PRKAA1	0.36582053
91	PAK6	0.36475552
92	ATR	0.35160369
93	RPS6KA6	0.33796914
94	PRKCA	0.32838932
95	WEE1	0.31706710
96	FLT3	0.29660328
97	PRKG1	0.28601960
98	DYRK1A	0.28592552
99	TAF1	0.26219004
100	CDK3	0.25909751

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	2.87097213
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.68161488
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.58891447
4	Phototransduction_Homo sapiens_hsa04744	2.55984432
5	Butanoate metabolism_Homo sapiens_hsa00650	2.55675801
6	Oxidative phosphorylation_Homo sapiens_hsa00190	2.50829274
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.50659832
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.38965178
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.36636893
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.30719069
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.27445463
12	Caffeine metabolism_Homo sapiens_hsa00232	2.23116408
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.19419984
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.12724585
15	Nicotine addiction_Homo sapiens_hsa05033	2.07618704
16	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.95415760
17	Parkinsons disease_Homo sapiens_hsa05012	1.87972152
18	Basal transcription factors_Homo sapiens_hsa03022	1.85578847
19	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.79899826
20	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.78680560
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.74825756
22	Protein export_Homo sapiens_hsa03060	1.74305521
23	Homologous recombination_Homo sapiens_hsa03440	1.68629803
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.58877322
25	RNA polymerase_Homo sapiens_hsa03020	1.49537560
26	Taste transduction_Homo sapiens_hsa04742	1.40142306
27	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.34053725
28	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.33757917
29	Morphine addiction_Homo sapiens_hsa05032	1.30787718
30	Olfactory transduction_Homo sapiens_hsa04740	1.28523552
31	One carbon pool by folate_Homo sapiens_hsa00670	1.25650595
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.22181261
33	Asthma_Homo sapiens_hsa05310	1.20529643
34	Huntingtons disease_Homo sapiens_hsa05016	1.19154237
35	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.17821204
36	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.17410311
37	RNA degradation_Homo sapiens_hsa03018	1.17263337
38	Peroxisome_Homo sapiens_hsa04146	1.14963073
39	Ribosome_Homo sapiens_hsa03010	1.11844851
40	Alzheimers disease_Homo sapiens_hsa05010	1.11123761
41	Collecting duct acid secretion_Homo sapiens_hsa04966	1.10702153
42	Cardiac muscle contraction_Homo sapiens_hsa04260	1.10322827
43	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.07437241
44	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.04083641
45	Chemical carcinogenesis_Homo sapiens_hsa05204	0.97188621
46	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.97065776
47	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.94323003
48	Type I diabetes mellitus_Homo sapiens_hsa04940	0.94314624
49	GABAergic synapse_Homo sapiens_hsa04727	0.94219599
50	ABC transporters_Homo sapiens_hsa02010	0.92151785
51	Insulin secretion_Homo sapiens_hsa04911	0.91281789
52	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.88540731
53	Sulfur metabolism_Homo sapiens_hsa00920	0.86876193
54	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.81859498
55	Circadian entrainment_Homo sapiens_hsa04713	0.80907262
56	Proteasome_Homo sapiens_hsa03050	0.80815068
57	Graft-versus-host disease_Homo sapiens_hsa05332	0.80590716
58	Regulation of autophagy_Homo sapiens_hsa04140	0.80308641
59	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.80176441
60	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.79480757
61	Serotonergic synapse_Homo sapiens_hsa04726	0.78100052
62	Propanoate metabolism_Homo sapiens_hsa00640	0.74501617
63	Retinol metabolism_Homo sapiens_hsa00830	0.73637391
64	Purine metabolism_Homo sapiens_hsa00230	0.72292317
65	Primary immunodeficiency_Homo sapiens_hsa05340	0.69045490
66	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.68204818
67	beta-Alanine metabolism_Homo sapiens_hsa00410	0.65878344
68	Fat digestion and absorption_Homo sapiens_hsa04975	0.64917209
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64638735
70	Glutamatergic synapse_Homo sapiens_hsa04724	0.64137653
71	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.63700930
72	Circadian rhythm_Homo sapiens_hsa04710	0.62181959
73	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.59635747
74	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.59528023
75	Metabolic pathways_Homo sapiens_hsa01100	0.56906201
76	Allograft rejection_Homo sapiens_hsa05330	0.56123475
77	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.55793029
78	Nucleotide excision repair_Homo sapiens_hsa03420	0.55297607
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.53363885
80	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.53241936
81	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.52420768
82	Pyrimidine metabolism_Homo sapiens_hsa00240	0.52295558
83	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52238752
84	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.51957211
85	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.48225133
86	Histidine metabolism_Homo sapiens_hsa00340	0.46319733
87	Salivary secretion_Homo sapiens_hsa04970	0.44947245
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.42489666
89	Non-homologous end-joining_Homo sapiens_hsa03450	0.41472657
90	Mineral absorption_Homo sapiens_hsa04978	0.38233485
91	Rheumatoid arthritis_Homo sapiens_hsa05323	0.37568264
92	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.36902190
93	Dopaminergic synapse_Homo sapiens_hsa04728	0.36293781
94	Glycerolipid metabolism_Homo sapiens_hsa00561	0.35098619
95	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.34002788
96	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.33740728
97	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.33234476
98	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.32500077
99	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.31013004
100	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.28421955

KLF2P4

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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