ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cullin deneddylation (GO:0010388)	5.33699247
2	proline transport (GO:0015824)	5.26070158
3	proteasome assembly (GO:0043248)	5.01585452
4	protein deneddylation (GO:0000338)	4.91808737
5	respiratory chain complex IV assembly (GO:0008535)	4.80254770
6	response to pheromone (GO:0019236)	4.67348649
7	water-soluble vitamin biosynthetic process (GO:0042364)	4.66785882
8	cytochrome complex assembly (GO:0017004)	4.54569190
9	aldehyde catabolic process (GO:0046185)	4.53999419
10	peptidyl-histidine modification (GO:0018202)	4.41637776
11	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	4.39580770
12	negative regulation of translation, ncRNA-mediated (GO:0040033)	4.39580770
13	regulation of translation, ncRNA-mediated (GO:0045974)	4.39580770
14	platelet dense granule organization (GO:0060155)	4.33703158
15	regulation of timing of cell differentiation (GO:0048505)	3.94348898
16	keratinocyte development (GO:0003334)	3.88445283
17	negative regulation of dendrite development (GO:2000171)	3.75136038
18	lactate metabolic process (GO:0006089)	3.72667926
19	regulation of collateral sprouting (GO:0048670)	3.70886980
20	regulation of development, heterochronic (GO:0040034)	3.69846346
21	DNA double-strand break processing (GO:0000729)	3.62961925
22	axoneme assembly (GO:0035082)	3.61239415
23	DNA deamination (GO:0045006)	3.55220364
24	retinal cone cell development (GO:0046549)	3.49209355
25	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.40433923
26	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.35003376
27	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.35003376
28	dopamine transport (GO:0015872)	3.30391573
29	protein complex biogenesis (GO:0070271)	3.29584438
30	DNA damage response, detection of DNA damage (GO:0042769)	3.26254596
31	protein localization to cilium (GO:0061512)	3.19843828
32	epithelial cilium movement (GO:0003351)	3.18231726
33	mitochondrial respiratory chain complex assembly (GO:0033108)	3.14098108
34	replication fork processing (GO:0031297)	3.11507147
35	pyrimidine nucleobase catabolic process (GO:0006208)	3.08854630
36	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	3.03521036
37	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	3.03521036
38	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	3.03521036
39	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	3.02251450
40	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.96167051
41	C4-dicarboxylate transport (GO:0015740)	2.94488745
42	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.94144448
43	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.94144448
44	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.93072682
45	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.91719553
46	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.90172400
47	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.89025868
48	regulation of neuron projection regeneration (GO:0070570)	2.88953543
49	regulation of axon regeneration (GO:0048679)	2.88953543
50	negative regulation of neurological system process (GO:0031645)	2.88398945
51	regulation of glucokinase activity (GO:0033131)	2.87394955
52	regulation of hexokinase activity (GO:1903299)	2.87394955
53	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.85950784
54	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.85950784
55	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.84255117
56	branched-chain amino acid catabolic process (GO:0009083)	2.83789061
57	fucose catabolic process (GO:0019317)	2.80382886
58	L-fucose metabolic process (GO:0042354)	2.80382886
59	L-fucose catabolic process (GO:0042355)	2.80382886
60	adenosine metabolic process (GO:0046085)	2.79855935
61	limb bud formation (GO:0060174)	2.78890041
62	reflex (GO:0060004)	2.78580586
63	photoreceptor cell maintenance (GO:0045494)	2.77676228
64	regulation of cellular amino acid metabolic process (GO:0006521)	2.77351741
65	base-excision repair, AP site formation (GO:0006285)	2.77044681
66	protein K6-linked ubiquitination (GO:0085020)	2.76769388
67	NADH dehydrogenase complex assembly (GO:0010257)	2.75497354
68	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.75497354
69	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.75497354
70	preassembly of GPI anchor in ER membrane (GO:0016254)	2.73270606
71	glycosphingolipid biosynthetic process (GO:0006688)	2.71871660
72	magnesium ion transport (GO:0015693)	2.70537643
73	dentate gyrus development (GO:0021542)	2.70012914
74	presynaptic membrane assembly (GO:0097105)	2.69701768
75	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.69177740
76	inositol phosphate catabolic process (GO:0071545)	2.68378796
77	vocalization behavior (GO:0071625)	2.67187057
78	hindbrain development (GO:0030902)	2.62586336
79	neural tube formation (GO:0001841)	2.62337148
80	synapsis (GO:0007129)	2.61997033
81	ribosome assembly (GO:0042255)	2.61802614
82	regulation of cofactor metabolic process (GO:0051193)	2.61706427
83	regulation of coenzyme metabolic process (GO:0051196)	2.61706427
84	nucleobase catabolic process (GO:0046113)	2.61395287
85	protein polyglutamylation (GO:0018095)	2.60961050
86	long term synaptic depression (GO:0060292)	2.59188096
87	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	2.58485540
88	rRNA catabolic process (GO:0016075)	2.58271225
89	rRNA modification (GO:0000154)	2.57171843
90	indolalkylamine metabolic process (GO:0006586)	2.56264800
91	cilium morphogenesis (GO:0060271)	2.55457790
92	pseudouridine synthesis (GO:0001522)	2.54517105
93	protein heterotetramerization (GO:0051290)	2.53827312
94	regulation of sulfur metabolic process (GO:0042762)	2.53380214
95	polyol catabolic process (GO:0046174)	2.52839974
96	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.51739271
97	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.50752092
98	DNA catabolic process, exonucleolytic (GO:0000738)	2.50131133
99	negative regulation of astrocyte differentiation (GO:0048712)	2.50032282
100	ganglion development (GO:0061548)	2.48876568

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.92879126
2	TAF15_26573619_Chip-Seq_HEK293_Human	2.90214512
3	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.83813354
4	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.76873402
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.73502492
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.72901061
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.72316210
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.70330807
9	FUS_26573619_Chip-Seq_HEK293_Human	2.58368187
10	EWS_26573619_Chip-Seq_HEK293_Human	2.54112523
11	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.53948928
12	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.43720563
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.41343748
14	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.39109050
15	P300_19829295_ChIP-Seq_ESCs_Human	2.28250772
16	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.26064551
17	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.25364639
18	VDR_22108803_ChIP-Seq_LS180_Human	2.22397072
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.16181516
20	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.11824115
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.10152814
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.93187298
23	ELK1_19687146_ChIP-ChIP_HELA_Human	1.86320848
24	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.74963605
25	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.68148141
26	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.67138715
27	BCAT_22108803_ChIP-Seq_LS180_Human	1.65533877
28	VDR_23849224_ChIP-Seq_CD4+_Human	1.64052184
29	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.63656564
30	MYC_18940864_ChIP-ChIP_HL60_Human	1.62691169
31	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.62207775
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.61201673
33	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.60138726
34	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.58527822
35	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.57352731
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.56750108
37	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.56359663
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.56050807
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.55707144
40	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.55635105
41	CBP_20019798_ChIP-Seq_JUKART_Human	1.55020195
42	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.55020195
43	ER_23166858_ChIP-Seq_MCF-7_Human	1.50025845
44	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.48611978
45	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.48077684
46	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.46496594
47	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.44741311
48	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.39602443
49	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.38566526
50	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.35926442
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.35729709
52	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.34396020
53	STAT3_23295773_ChIP-Seq_U87_Human	1.33508505
54	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.33424823
55	TCF4_22108803_ChIP-Seq_LS180_Human	1.33236515
56	AR_25329375_ChIP-Seq_VCAP_Human	1.33032930
57	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.31619511
58	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.30900854
59	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.27765955
60	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.26598850
61	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.25867298
62	FOXP3_21729870_ChIP-Seq_TREG_Human	1.25776170
63	SOX2_19829295_ChIP-Seq_ESCs_Human	1.24411406
64	NANOG_19829295_ChIP-Seq_ESCs_Human	1.24411406
65	IRF1_19129219_ChIP-ChIP_H3396_Human	1.23173931
66	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.22371059
67	TCF4_23295773_ChIP-Seq_U87_Human	1.21804282
68	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.21358003
69	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.19828599
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.19085858
71	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.18308956
72	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.17613717
73	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.17511954
74	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.17300618
75	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.16940882
76	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.14714375
77	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.14714375
78	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.13823025
79	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.13248990
80	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.13136003
81	P53_22387025_ChIP-Seq_ESCs_Mouse	1.12282712
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10856102
83	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08362605
84	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.07462059
85	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.06904551
86	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.06206218
87	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06113646
88	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.05350108
89	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.05159450
90	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04696003
91	CDX2_22108803_ChIP-Seq_LS180_Human	1.03978433
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.03893279
93	JUN_21703547_ChIP-Seq_K562_Human	1.03260840
94	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.02430589
95	RNF2_27304074_Chip-Seq_NSC_Mouse	0.99923429
96	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.97731483
97	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.97184706
98	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.97017693
99	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.95620690
100	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.94616415

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	4.40535198
2	MP0000569_abnormal_digit_pigmentation	3.98882058
3	MP0001984_abnormal_olfaction	3.52555572
4	MP0006072_abnormal_retinal_apoptosis	2.97727045
5	MP0008995_early_reproductive_senescence	2.90520740
6	MP0003195_calcinosis	2.81795402
7	MP0008877_abnormal_DNA_methylation	2.68924502
8	MP0002736_abnormal_nociception_after	2.44084959
9	MP0000372_irregular_coat_pigmentation	2.41101018
10	MP0008058_abnormal_DNA_repair	2.36224786
11	MP0002938_white_spotting	2.35989482
12	MP0000516_abnormal_urinary_system	2.24835146
13	MP0005367_renal/urinary_system_phenotyp	2.24835146
14	MP0005174_abnormal_tail_pigmentation	2.11173727
15	MP0005253_abnormal_eye_physiology	2.10306828
16	MP0005551_abnormal_eye_electrophysiolog	1.99664456
17	MP0001968_abnormal_touch/_nociception	1.97893913
18	MP0003718_maternal_effect	1.92882432
19	MP0005171_absent_coat_pigmentation	1.88228549
20	MP0002837_dystrophic_cardiac_calcinosis	1.86857394
21	MP0003122_maternal_imprinting	1.86385300
22	MP0002095_abnormal_skin_pigmentation	1.85802736
23	MP0003786_premature_aging	1.79389873
24	MP0003880_abnormal_central_pattern	1.78696577
25	MP0000427_abnormal_hair_cycle	1.75138774
26	MP0005075_abnormal_melanosome_morpholog	1.69322650
27	MP0000015_abnormal_ear_pigmentation	1.59235782
28	MP0003121_genomic_imprinting	1.57621077
29	MP0002751_abnormal_autonomic_nervous	1.56427604
30	MP0008789_abnormal_olfactory_epithelium	1.52186929
31	MP0010094_abnormal_chromosome_stability	1.51194347
32	MP0000647_abnormal_sebaceous_gland	1.42627904
33	MP0005187_abnormal_penis_morphology	1.41782524
34	MP0004215_abnormal_myocardial_fiber	1.41472318
35	MP0009745_abnormal_behavioral_response	1.39616131
36	MP0009046_muscle_twitch	1.37144167
37	MP0002234_abnormal_pharynx_morphology	1.34803307
38	MP0008875_abnormal_xenobiotic_pharmacok	1.32091413
39	MP0006054_spinal_hemorrhage	1.26725021
40	MP0004484_altered_response_of	1.26338409
41	MP0005645_abnormal_hypothalamus_physiol	1.23532224
42	MP0001486_abnormal_startle_reflex	1.19607107
43	MP0001764_abnormal_homeostasis	1.19131288
44	MP0003252_abnormal_bile_duct	1.18519228
45	MP0004133_heterotaxia	1.16806841
46	MP0003186_abnormal_redox_activity	1.14313226
47	MP0009697_abnormal_copulation	1.05297323
48	MP0000778_abnormal_nervous_system	1.04941387
49	MP0002254_reproductive_system_inflammat	1.04302536
50	MP0008872_abnormal_physiological_respon	1.01479175
51	MP0002876_abnormal_thyroid_physiology	0.99920284
52	MP0006035_abnormal_mitochondrial_morpho	0.96687637
53	MP0002928_abnormal_bile_duct	0.96333990
54	MP0003119_abnormal_digestive_system	0.94850043
55	MP0000631_abnormal_neuroendocrine_gland	0.94684043
56	MP0000538_abnormal_urinary_bladder	0.94411154
57	MP0002233_abnormal_nose_morphology	0.93120071
58	MP0001986_abnormal_taste_sensitivity	0.92982762
59	MP0002557_abnormal_social/conspecific_i	0.92517392
60	MP0006036_abnormal_mitochondrial_physio	0.91905650
61	MP0000371_diluted_coat_color	0.91626540
62	MP0005195_abnormal_posterior_eye	0.90805630
63	MP0004043_abnormal_pH_regulation	0.90608268
64	MP0002752_abnormal_somatic_nervous	0.90045536
65	MP0003567_abnormal_fetal_cardiomyocyte	0.89903402
66	MP0005646_abnormal_pituitary_gland	0.89196322
67	MP0004742_abnormal_vestibular_system	0.89082329
68	MP0005085_abnormal_gallbladder_physiolo	0.88839489
69	MP0001905_abnormal_dopamine_level	0.85884758
70	MP0001293_anophthalmia	0.84909738
71	MP0001177_atelectasis	0.84561287
72	MP0002090_abnormal_vision	0.83480804
73	MP0005379_endocrine/exocrine_gland_phen	0.81833365
74	MP0001485_abnormal_pinna_reflex	0.80876220
75	MP0004142_abnormal_muscle_tone	0.80408001
76	MP0010678_abnormal_skin_adnexa	0.80326296
77	MP0003950_abnormal_plasma_membrane	0.79830718
78	MP0006276_abnormal_autonomic_nervous	0.79510886
79	MP0003890_abnormal_embryonic-extraembry	0.78708290
80	MP0005394_taste/olfaction_phenotype	0.77898000
81	MP0005499_abnormal_olfactory_system	0.77898000
82	MP0001501_abnormal_sleep_pattern	0.77680550
83	MP0002064_seizures	0.76550193
84	MP0001529_abnormal_vocalization	0.76245343
85	MP0002272_abnormal_nervous_system	0.74684484
86	MP0001929_abnormal_gametogenesis	0.74164292
87	MP0000613_abnormal_salivary_gland	0.74073430
88	MP0003698_abnormal_male_reproductive	0.73637954
89	MP0000653_abnormal_sex_gland	0.73587255
90	MP0005395_other_phenotype	0.72948788
91	MP0000383_abnormal_hair_follicle	0.71796297
92	MP0002067_abnormal_sensory_capabilities	0.70897105
93	MP0003656_abnormal_erythrocyte_physiolo	0.70286968
94	MP0002069_abnormal_eating/drinking_beha	0.70283471
95	MP0002229_neurodegeneration	0.69913796
96	MP0003755_abnormal_palate_morphology	0.69798131
97	MP0008775_abnormal_heart_ventricle	0.69632226
98	MP0005410_abnormal_fertilization	0.69604709
99	MP0005084_abnormal_gallbladder_morpholo	0.69563758
100	MP0005391_vision/eye_phenotype	0.69539208

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Colon cancer (HP:0003003)	4.13689249
2	Neoplasm of the adrenal cortex (HP:0100641)	4.08931085
3	Pendular nystagmus (HP:0012043)	3.22485558
4	Pancreatic cysts (HP:0001737)	3.16829257
5	Pancreatic fibrosis (HP:0100732)	3.10017212
6	True hermaphroditism (HP:0010459)	3.09901303
7	Chronic hepatic failure (HP:0100626)	3.08902612
8	Abnormality of midbrain morphology (HP:0002418)	2.97816306
9	Molar tooth sign on MRI (HP:0002419)	2.97816306
10	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.89472163
11	Abnormality of glycolysis (HP:0004366)	2.88425713
12	Neoplasm of the adrenal gland (HP:0100631)	2.82986393
13	Abnormal biliary tract physiology (HP:0012439)	2.71283915
14	Bile duct proliferation (HP:0001408)	2.71283915
15	Glioma (HP:0009733)	2.69701975
16	Nephronophthisis (HP:0000090)	2.67571267
17	Increased CSF lactate (HP:0002490)	2.66452849
18	Thyroiditis (HP:0100646)	2.58808910
19	Abolished electroretinogram (ERG) (HP:0000550)	2.55589987
20	Stomach cancer (HP:0012126)	2.54482944
21	Abnormality of the renal medulla (HP:0100957)	2.54281311
22	Increased hepatocellular lipid droplets (HP:0006565)	2.50991006
23	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.45505467
24	Hypothermia (HP:0002045)	2.42805965
25	Abnormality of methionine metabolism (HP:0010901)	2.40161684
26	Medial flaring of the eyebrow (HP:0010747)	2.38114884
27	Aqueductal stenosis (HP:0002410)	2.34608019
28	Disproportionate short-trunk short stature (HP:0003521)	2.34385689
29	Lipid accumulation in hepatocytes (HP:0006561)	2.33348833
30	Methylmalonic acidemia (HP:0002912)	2.29399235
31	Mitochondrial inheritance (HP:0001427)	2.29251601
32	Hepatocellular necrosis (HP:0001404)	2.28565466
33	Chorioretinal atrophy (HP:0000533)	2.28419711
34	Abnormal rod and cone electroretinograms (HP:0008323)	2.25304045
35	Hepatic necrosis (HP:0002605)	2.21377176
36	Hypomagnesemia (HP:0002917)	2.19281982
37	Astrocytoma (HP:0009592)	2.16879662
38	Abnormality of the astrocytes (HP:0100707)	2.16879662
39	Ependymoma (HP:0002888)	2.16826510
40	Tented upper lip vermilion (HP:0010804)	2.12903026
41	Abnormality of the renal cortex (HP:0011035)	2.12494472
42	Progressive macrocephaly (HP:0004481)	2.11545459
43	Abnormality of vitamin B metabolism (HP:0004340)	2.10772348
44	Breast carcinoma (HP:0003002)	2.10507646
45	Abnormality of the labia minora (HP:0012880)	2.08280890
46	Abnormality of placental membranes (HP:0011409)	2.08209314
47	Amniotic constriction ring (HP:0009775)	2.08209314
48	Hypoplastic pelvis (HP:0008839)	2.07245214
49	Increased serum lactate (HP:0002151)	2.07152512
50	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.07078418
51	Congenital sensorineural hearing impairment (HP:0008527)	2.05501647
52	Methylmalonic aciduria (HP:0012120)	2.05178967
53	Gaze-evoked nystagmus (HP:0000640)	2.03003506
54	Cystic liver disease (HP:0006706)	2.00818759
55	Progressive inability to walk (HP:0002505)	2.00756733
56	Dyschromatopsia (HP:0007641)	1.99836156
57	Intestinal atresia (HP:0011100)	1.97385321
58	Prominent metopic ridge (HP:0005487)	1.97002487
59	Acute encephalopathy (HP:0006846)	1.96677578
60	Abnormality of the metopic suture (HP:0005556)	1.95233919
61	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.94886670
62	Pigmentary retinal degeneration (HP:0001146)	1.92810639
63	Febrile seizures (HP:0002373)	1.87956387
64	Pancreatic islet-cell hyperplasia (HP:0004510)	1.87483137
65	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.87280143
66	Rhabdomyosarcoma (HP:0002859)	1.84861764
67	Acute necrotizing encephalopathy (HP:0006965)	1.82476716
68	Attenuation of retinal blood vessels (HP:0007843)	1.81577106
69	Congenital primary aphakia (HP:0007707)	1.80411790
70	Lactic acidosis (HP:0003128)	1.79723475
71	Gait imbalance (HP:0002141)	1.79560390
72	Optic disc pallor (HP:0000543)	1.78312904
73	Increased serum pyruvate (HP:0003542)	1.77444323
74	Polyphagia (HP:0002591)	1.76377219
75	White forelock (HP:0002211)	1.75378204
76	Sclerocornea (HP:0000647)	1.74884962
77	Renal cortical cysts (HP:0000803)	1.74799553
78	Short 1st metacarpal (HP:0010034)	1.74526589
79	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.74526589
80	Renal Fanconi syndrome (HP:0001994)	1.74186296
81	Broad-based gait (HP:0002136)	1.73715448
82	Postaxial foot polydactyly (HP:0001830)	1.73034591
83	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.72636831
84	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.72511595
85	Gonadotropin excess (HP:0000837)	1.70236770
86	Short tibia (HP:0005736)	1.70065166
87	Furrowed tongue (HP:0000221)	1.69359475
88	Genital tract atresia (HP:0001827)	1.68979700
89	Oculomotor apraxia (HP:0000657)	1.68226000
90	Keratoconus (HP:0000563)	1.66340492
91	Increased corneal curvature (HP:0100692)	1.66340492
92	Tubulointerstitial nephritis (HP:0001970)	1.65873141
93	Progressive cerebellar ataxia (HP:0002073)	1.65548833
94	Congenital hepatic fibrosis (HP:0002612)	1.65476093
95	Renal hypoplasia (HP:0000089)	1.64110500
96	Nephrogenic diabetes insipidus (HP:0009806)	1.64037790
97	Absent thumb (HP:0009777)	1.63847254
98	Vaginal atresia (HP:0000148)	1.63785824
99	Occipital encephalocele (HP:0002085)	1.61659346
100	Widely spaced teeth (HP:0000687)	1.61201521

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	6.08536460
2	FRK	5.49303066
3	TRIM28	3.02147836
4	MST4	2.98835745
5	WNK3	2.62214892
6	ZAK	2.23128765
7	BCR	2.04386643
8	FGFR2	1.95740216
9	EIF2AK3	1.90917529
10	TNIK	1.84314800
11	MKNK1	1.77043178
12	NTRK3	1.74011838
13	PLK3	1.73971399
14	PDK2	1.71294945
15	CASK	1.69883451
16	PLK2	1.67169532
17	BMPR1B	1.59536711
18	NUAK1	1.52155336
19	GRK1	1.51171227
20	VRK2	1.47627907
21	PAK3	1.47288383
22	MKNK2	1.43972560
23	NEK1	1.39900898
24	MAP3K4	1.39455518
25	SIK3	1.35044386
26	PINK1	1.31291010
27	OXSR1	1.26996754
28	AKT3	1.26513061
29	BRD4	1.24413898
30	MAPK13	1.24022534
31	TXK	1.19442824
32	TAF1	1.18760577
33	PLK4	1.14870609
34	CSNK1A1L	1.10237524
35	ADRBK2	1.06365317
36	EIF2AK1	1.04652504
37	STK39	1.02901351
38	CSNK1G3	1.02488154
39	CSNK1G1	1.01146774
40	ERBB3	1.00612592
41	FER	0.99871926
42	VRK1	0.99194289
43	DYRK2	0.98860410
44	FLT3	0.97251075
45	STK16	0.96916672
46	TSSK6	0.94361096
47	TIE1	0.92922219
48	MAP3K12	0.92434595
49	CSNK1G2	0.91435267
50	MAP2K7	0.90837599
51	SRPK1	0.85643383
52	EPHA4	0.83945094
53	ACVR1B	0.81636144
54	GRK7	0.81030874
55	PBK	0.76215024
56	WNK4	0.75891767
57	GRK5	0.68019634
58	INSRR	0.67250340
59	DYRK1A	0.65024499
60	ATR	0.64545744
61	BRSK2	0.64124298
62	PRKD3	0.64026104
63	CCNB1	0.62684052
64	PAK6	0.61628657
65	BCKDK	0.56953513
66	PKN2	0.56943146
67	TNK2	0.56298763
68	PRKCE	0.54821981
69	DYRK3	0.53518386
70	MAPKAPK5	0.52123290
71	STK24	0.50618070
72	EIF2AK2	0.49736353
73	TTK	0.49048655
74	ATM	0.48692880
75	DAPK1	0.48411546
76	PIK3CA	0.47577486
77	PTK2B	0.46381167
78	CDC7	0.45678621
79	MINK1	0.43367230
80	PLK1	0.39961361
81	TLK1	0.39714296
82	STK11	0.38788600
83	NLK	0.38100105
84	PHKG2	0.37188705
85	PHKG1	0.37188705
86	ADRBK1	0.36979495
87	RPS6KA4	0.36011813
88	MARK1	0.35841449
89	TGFBR2	0.33499787
90	TEC	0.33276825
91	STK38L	0.33058416
92	PRKCG	0.32648413
93	CDK19	0.32423167
94	CDK8	0.30784501
95	TGFBR1	0.30663710
96	CSNK1A1	0.30321980
97	MARK3	0.29866836
98	FGFR1	0.29424390
99	CSNK1D	0.28322227
100	KSR1	0.26889208

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.72096235
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.41660345
3	Protein export_Homo sapiens_hsa03060	2.76163267
4	Propanoate metabolism_Homo sapiens_hsa00640	2.54788534
5	Steroid biosynthesis_Homo sapiens_hsa00100	2.51756894
6	Non-homologous end-joining_Homo sapiens_hsa03450	2.51100381
7	RNA polymerase_Homo sapiens_hsa03020	2.44595287
8	Butanoate metabolism_Homo sapiens_hsa00650	2.18719731
9	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.17349220
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.15853676
11	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.14235820
12	Homologous recombination_Homo sapiens_hsa03440	2.13194493
13	Sulfur metabolism_Homo sapiens_hsa00920	2.09720342
14	Oxidative phosphorylation_Homo sapiens_hsa00190	2.02758033
15	Basal transcription factors_Homo sapiens_hsa03022	1.91726223
16	Phototransduction_Homo sapiens_hsa04744	1.89995740
17	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.85946312
18	Parkinsons disease_Homo sapiens_hsa05012	1.84039529
19	RNA degradation_Homo sapiens_hsa03018	1.78651089
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.75753103
21	Fatty acid elongation_Homo sapiens_hsa00062	1.73139278
22	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.69929634
23	Peroxisome_Homo sapiens_hsa04146	1.51647247
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.51283848
25	Caffeine metabolism_Homo sapiens_hsa00232	1.47999233
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.45426162
27	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.43118566
28	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.40607633
29	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.39308339
30	Mismatch repair_Homo sapiens_hsa03430	1.29214060
31	Taste transduction_Homo sapiens_hsa04742	1.28958579
32	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.25078944
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.22787313
34	Linoleic acid metabolism_Homo sapiens_hsa00591	1.21376398
35	Base excision repair_Homo sapiens_hsa03410	1.19939671
36	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.16530539
37	Purine metabolism_Homo sapiens_hsa00230	1.16512322
38	Huntingtons disease_Homo sapiens_hsa05016	1.15911646
39	Nitrogen metabolism_Homo sapiens_hsa00910	1.13623593
40	Pyruvate metabolism_Homo sapiens_hsa00620	1.10667530
41	Nicotine addiction_Homo sapiens_hsa05033	1.06733530
42	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.04889766
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.02846982
44	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.02418593
45	Glutathione metabolism_Homo sapiens_hsa00480	1.00418620
46	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.00408158
47	Ether lipid metabolism_Homo sapiens_hsa00565	1.00362879
48	Pyrimidine metabolism_Homo sapiens_hsa00240	1.00081862
49	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.98891517
50	One carbon pool by folate_Homo sapiens_hsa00670	0.98049549
51	Folate biosynthesis_Homo sapiens_hsa00790	0.97890930
52	Retinol metabolism_Homo sapiens_hsa00830	0.94885409
53	Nucleotide excision repair_Homo sapiens_hsa03420	0.93284887
54	Fat digestion and absorption_Homo sapiens_hsa04975	0.91985660
55	RNA transport_Homo sapiens_hsa03013	0.88702745
56	Collecting duct acid secretion_Homo sapiens_hsa04966	0.88598116
57	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.87174365
58	Chemical carcinogenesis_Homo sapiens_hsa05204	0.87155739
59	Metabolic pathways_Homo sapiens_hsa01100	0.83651884
60	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.83556714
61	Olfactory transduction_Homo sapiens_hsa04740	0.81402389
62	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.80206629
63	Alzheimers disease_Homo sapiens_hsa05010	0.79448543
64	Regulation of autophagy_Homo sapiens_hsa04140	0.79064872
65	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.78446030
66	Glutamatergic synapse_Homo sapiens_hsa04724	0.76580446
67	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.76487575
68	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.75917262
69	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.74655298
70	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.74380261
71	Fatty acid metabolism_Homo sapiens_hsa01212	0.73487117
72	Fatty acid degradation_Homo sapiens_hsa00071	0.73198438
73	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.72191336
74	Spliceosome_Homo sapiens_hsa03040	0.68410942
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.67321066
76	beta-Alanine metabolism_Homo sapiens_hsa00410	0.65461275
77	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63703747
78	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.61288275
79	Circadian rhythm_Homo sapiens_hsa04710	0.53906971
80	DNA replication_Homo sapiens_hsa03030	0.51740634
81	p53 signaling pathway_Homo sapiens_hsa04115	0.51655514
82	Circadian entrainment_Homo sapiens_hsa04713	0.49572809
83	Sphingolipid metabolism_Homo sapiens_hsa00600	0.48895700
84	Salivary secretion_Homo sapiens_hsa04970	0.48011291
85	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.47165937
86	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.43063903
87	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.41626757
88	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.41094877
89	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.41041975
90	Long-term depression_Homo sapiens_hsa04730	0.39798653
91	Glycerolipid metabolism_Homo sapiens_hsa00561	0.36839989
92	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.36411963
93	Carbon metabolism_Homo sapiens_hsa01200	0.36245731
94	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.34448543
95	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.33100705
96	ABC transporters_Homo sapiens_hsa02010	0.33093431
97	Arginine and proline metabolism_Homo sapiens_hsa00330	0.32957006
98	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.31652018
99	Serotonergic synapse_Homo sapiens_hsa04726	0.31417292
100	Tyrosine metabolism_Homo sapiens_hsa00350	0.29519374

BTF3P12

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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