ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.59508786
2	ATP synthesis coupled proton transport (GO:0015986)	4.80525965
3	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.80525965
4	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.54078279
5	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.45347587
6	protein neddylation (GO:0045116)	4.40748820
7	chaperone-mediated protein transport (GO:0072321)	4.33166821
8	respiratory electron transport chain (GO:0022904)	4.02770969
9	sequestering of actin monomers (GO:0042989)	3.95478857
10	electron transport chain (GO:0022900)	3.95336267
11	protein complex biogenesis (GO:0070271)	3.75610316
12	presynaptic membrane assembly (GO:0097105)	3.58725945
13	mitochondrial respiratory chain complex assembly (GO:0033108)	3.53693250
14	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.41636021
15	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.41636021
16	NADH dehydrogenase complex assembly (GO:0010257)	3.41636021
17	presynaptic membrane organization (GO:0097090)	3.31035195
18	pyrimidine nucleobase catabolic process (GO:0006208)	3.25320060
19	postsynaptic membrane organization (GO:0001941)	3.10696051
20	proteasome assembly (GO:0043248)	3.09882578
21	regulation of mitochondrial translation (GO:0070129)	3.09656610
22	DNA damage response, detection of DNA damage (GO:0042769)	3.08458040
23	chromatin remodeling at centromere (GO:0031055)	3.06656709
24	neuron cell-cell adhesion (GO:0007158)	3.00560716
25	CENP-A containing nucleosome assembly (GO:0034080)	2.94968473
26	cullin deneddylation (GO:0010388)	2.89268185
27	establishment of integrated proviral latency (GO:0075713)	2.86246483
28	protein localization to synapse (GO:0035418)	2.82025167
29	respiratory chain complex IV assembly (GO:0008535)	2.80647041
30	inner mitochondrial membrane organization (GO:0007007)	2.77408125
31	termination of RNA polymerase III transcription (GO:0006386)	2.75092600
32	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.75092600
33	hydrogen ion transmembrane transport (GO:1902600)	2.73818175
34	ATP biosynthetic process (GO:0006754)	2.71088432
35	behavioral response to nicotine (GO:0035095)	2.65213669
36	nonmotile primary cilium assembly (GO:0035058)	2.65206417
37	protein deneddylation (GO:0000338)	2.61921734
38	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.57305336
39	vocalization behavior (GO:0071625)	2.56463719
40	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.55849921
41	transmission of nerve impulse (GO:0019226)	2.54891388
42	histone exchange (GO:0043486)	2.54745349
43	cytochrome complex assembly (GO:0017004)	2.54558681
44	nucleobase catabolic process (GO:0046113)	2.52140729
45	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.47879930
46	retinal ganglion cell axon guidance (GO:0031290)	2.46687657
47	intraciliary transport (GO:0042073)	2.46397929
48	proton transport (GO:0015992)	2.44738647
49	neuron fate determination (GO:0048664)	2.44354999
50	neuron recognition (GO:0008038)	2.40586653
51	axonal fasciculation (GO:0007413)	2.40149731
52	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.40040214
53	hydrogen transport (GO:0006818)	2.39701354
54	protein-cofactor linkage (GO:0018065)	2.39629487
55	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.37760421
56	water-soluble vitamin biosynthetic process (GO:0042364)	2.36192843
57	spliceosomal snRNP assembly (GO:0000387)	2.35996456
58	short-term memory (GO:0007614)	2.35403525
59	intracellular protein transmembrane import (GO:0044743)	2.33661737
60	cotranslational protein targeting to membrane (GO:0006613)	2.33102297
61	protein localization to mitochondrion (GO:0070585)	2.31860845
62	ribosomal small subunit assembly (GO:0000028)	2.31517298
63	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.30769287
64	platelet dense granule organization (GO:0060155)	2.30239892
65	establishment of protein localization to mitochondrion (GO:0072655)	2.29984774
66	limb bud formation (GO:0060174)	2.28729937
67	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.28657841
68	protein targeting to mitochondrion (GO:0006626)	2.28363252
69	positive regulation of synapse assembly (GO:0051965)	2.28274361
70	translational termination (GO:0006415)	2.28115642
71	DNA replication-independent nucleosome organization (GO:0034724)	2.27476992
72	DNA replication-independent nucleosome assembly (GO:0006336)	2.27476992
73	viral transcription (GO:0019083)	2.27281736
74	thalamus development (GO:0021794)	2.23543502
75	protein targeting to ER (GO:0045047)	2.23511439
76	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.22094982
77	establishment of viral latency (GO:0019043)	2.18850816
78	nucleoside triphosphate biosynthetic process (GO:0009142)	2.16926863
79	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.16861356
80	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.15502841
81	neurofilament cytoskeleton organization (GO:0060052)	2.15206695
82	DNA double-strand break processing (GO:0000729)	2.14207104
83	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.13792590
84	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.13792590
85	GTP biosynthetic process (GO:0006183)	2.13658863
86	negative regulation of ligase activity (GO:0051352)	2.12857938
87	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.12857938
88	behavioral response to cocaine (GO:0048148)	2.12180909
89	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.11998896
90	protein localization to endoplasmic reticulum (GO:0070972)	2.11441615
91	negative regulation of response to food (GO:0032096)	2.10503096
92	negative regulation of appetite (GO:0032099)	2.10503096
93	epithelial cilium movement (GO:0003351)	2.09886127
94	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.09594155
95	anterograde axon cargo transport (GO:0008089)	2.09535576
96	lateral sprouting from an epithelium (GO:0060601)	2.09380737
97	regulation of cilium movement (GO:0003352)	2.09072999
98	positive regulation of gastrulation (GO:2000543)	2.07984556
99	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.06785593
100	neuronal action potential propagation (GO:0019227)	2.06371431

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	3.28480962
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.25676404
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.11436022
4	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.09471362
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.66656059
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.63786293
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.35632464
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.28537289
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.18226407
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.09762465
11	FUS_26573619_Chip-Seq_HEK293_Human	2.04326804
12	ZNF274_21170338_ChIP-Seq_K562_Hela	1.99903695
13	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.95339866
14	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.93528311
15	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.93461517
16	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.92146860
17	EWS_26573619_Chip-Seq_HEK293_Human	1.91730757
18	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.91353029
19	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.89689530
20	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.79144239
21	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.77992581
22	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.76853606
23	VDR_22108803_ChIP-Seq_LS180_Human	1.73797909
24	P300_19829295_ChIP-Seq_ESCs_Human	1.73233830
25	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.71650348
26	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.70687013
27	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.69773269
28	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67607295
29	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.64848792
30	ELK1_19687146_ChIP-ChIP_HELA_Human	1.64726412
31	RNF2_27304074_Chip-Seq_NSC_Mouse	1.63106953
32	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.62543269
33	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.61879376
34	IGF1R_20145208_ChIP-Seq_DFB_Human	1.61122706
35	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.57646721
36	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.57113956
37	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.55095272
38	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.54441278
39	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.53452771
40	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.48375924
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.45145226
42	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.44017505
43	REST_21632747_ChIP-Seq_MESCs_Mouse	1.40044782
44	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.38493386
45	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.34549070
46	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.34018562
47	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.32500639
48	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.31011462
49	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.30140684
50	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.29110750
51	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.28802376
52	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.27073058
53	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.24951104
54	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.24898957
55	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.24508172
56	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.24426937
57	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20675047
58	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.20401393
59	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.17256482
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.15701642
61	TTF2_22483619_ChIP-Seq_HELA_Human	1.12440490
62	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.11840679
63	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.10127223
64	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.10062037
65	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.09495571
66	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.09329788
67	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.08937736
68	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.08726469
69	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.07637888
70	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07053823
71	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.06649810
72	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.06649810
73	SMAD4_21799915_ChIP-Seq_A2780_Human	1.05955210
74	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.05040598
75	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.05027685
76	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.04387412
77	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.02440150
78	HTT_18923047_ChIP-ChIP_STHdh_Human	1.01391610
79	VDR_23849224_ChIP-Seq_CD4+_Human	1.00915678
80	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.00603804
81	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.00266517
82	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.99207626
83	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.99043079
84	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.98388074
85	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.95776923
86	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.94979288
87	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.94694226
88	TP53_22573176_ChIP-Seq_HFKS_Human	0.94174766
89	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.94161625
90	AR_25329375_ChIP-Seq_VCAP_Human	0.93112967
91	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.92752975
92	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.91869354
93	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.91869354
94	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.91775727
95	JUN_21703547_ChIP-Seq_K562_Human	0.90475658
96	SOX9_26525672_Chip-Seq_HEART_Mouse	0.90425576
97	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.89901941
98	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.89080725
99	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.88715440
100	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	0.88320598

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	3.15560563
2	MP0003122_maternal_imprinting	2.58741052
3	MP0001529_abnormal_vocalization	2.49932139
4	MP0006292_abnormal_olfactory_placode	2.45660305
5	MP0002736_abnormal_nociception_after	2.35550070
6	MP0003136_yellow_coat_color	2.08221493
7	MP0004859_abnormal_synaptic_plasticity	2.07916048
8	MP0010030_abnormal_orbit_morphology	2.02015410
9	MP0001968_abnormal_touch/_nociception	1.98509398
10	MP0001984_abnormal_olfaction	1.95069657
11	MP0002938_white_spotting	1.93692807
12	MP0003890_abnormal_embryonic-extraembry	1.92216340
13	MP0003121_genomic_imprinting	1.91295286
14	MP0006276_abnormal_autonomic_nervous	1.90779149
15	MP0009379_abnormal_foot_pigmentation	1.88632201
16	MP0000778_abnormal_nervous_system	1.84178554
17	MP0004270_analgesia	1.83053136
18	MP0004133_heterotaxia	1.78240409
19	MP0002102_abnormal_ear_morphology	1.77574086
20	MP0006072_abnormal_retinal_apoptosis	1.72333370
21	MP0002734_abnormal_mechanical_nocicepti	1.69049296
22	MP0009745_abnormal_behavioral_response	1.67616171
23	MP0002272_abnormal_nervous_system	1.67264595
24	MP0003635_abnormal_synaptic_transmissio	1.66765834
25	MP0009046_muscle_twitch	1.66578449
26	MP0005499_abnormal_olfactory_system	1.66125279
27	MP0005394_taste/olfaction_phenotype	1.66125279
28	MP0003787_abnormal_imprinting	1.65230092
29	MP0005423_abnormal_somatic_nervous	1.62118248
30	MP0008877_abnormal_DNA_methylation	1.61802273
31	MP0000566_synostosis	1.59137372
32	MP0001293_anophthalmia	1.56402310
33	MP0008789_abnormal_olfactory_epithelium	1.54975573
34	MP0002735_abnormal_chemical_nociception	1.53544096
35	MP0002572_abnormal_emotion/affect_behav	1.52020788
36	MP0001486_abnormal_startle_reflex	1.49851929
37	MP0002064_seizures	1.46190672
38	MP0002822_catalepsy	1.44566884
39	MP0003119_abnormal_digestive_system	1.44459116
40	MP0000631_abnormal_neuroendocrine_gland	1.41307711
41	MP0001188_hyperpigmentation	1.40787421
42	MP0000049_abnormal_middle_ear	1.39395298
43	MP0004142_abnormal_muscle_tone	1.36967889
44	MP0002557_abnormal_social/conspecific_i	1.35219869
45	MP0001905_abnormal_dopamine_level	1.34201709
46	MP0002063_abnormal_learning/memory/cond	1.33975536
47	MP0008058_abnormal_DNA_repair	1.30867102
48	MP0003011_delayed_dark_adaptation	1.28770897
49	MP0003937_abnormal_limbs/digits/tail_de	1.28217056
50	MP0002638_abnormal_pupillary_reflex	1.25642218
51	MP0005084_abnormal_gallbladder_morpholo	1.24557343
52	MP0001485_abnormal_pinna_reflex	1.24188565
53	MP0002184_abnormal_innervation	1.23536524
54	MP0005551_abnormal_eye_electrophysiolog	1.22752904
55	MP0002234_abnormal_pharynx_morphology	1.21610405
56	MP0003283_abnormal_digestive_organ	1.19597707
57	MP0002067_abnormal_sensory_capabilities	1.18448003
58	MP0001970_abnormal_pain_threshold	1.18080849
59	MP0002233_abnormal_nose_morphology	1.17219948
60	MP0003938_abnormal_ear_development	1.16488219
61	MP0005187_abnormal_penis_morphology	1.16010122
62	MP0000955_abnormal_spinal_cord	1.13749559
63	MP0005646_abnormal_pituitary_gland	1.13554311
64	MP0002653_abnormal_ependyma_morphology	1.12451737
65	MP0005253_abnormal_eye_physiology	1.10729297
66	MP0002751_abnormal_autonomic_nervous	1.10498595
67	MP0003123_paternal_imprinting	1.08056320
68	MP0002837_dystrophic_cardiac_calcinosis	1.07676919
69	MP0002733_abnormal_thermal_nociception	1.07269026
70	MP0004885_abnormal_endolymph	1.05970561
71	MP0001286_abnormal_eye_development	1.04967653
72	MP0001299_abnormal_eye_distance/	1.04142496
73	MP0002697_abnormal_eye_size	1.03299573
74	MP0002752_abnormal_somatic_nervous	1.02091526
75	MP0004742_abnormal_vestibular_system	1.00154980
76	MP0002882_abnormal_neuron_morphology	0.99983085
77	MP0000026_abnormal_inner_ear	0.99936504
78	MP0003861_abnormal_nervous_system	0.98431394
79	MP0003567_abnormal_fetal_cardiomyocyte	0.98000431
80	MP0002909_abnormal_adrenal_gland	0.96434454
81	MP0002152_abnormal_brain_morphology	0.95568537
82	MP0004811_abnormal_neuron_physiology	0.94804301
83	MP0008932_abnormal_embryonic_tissue	0.91521552
84	MP0003186_abnormal_redox_activity	0.90856505
85	MP0003942_abnormal_urinary_system	0.87087867
86	MP0008995_early_reproductive_senescence	0.86588600
87	MP0004924_abnormal_behavior	0.86144082
88	MP0005386_behavior/neurological_phenoty	0.86144082
89	MP0003718_maternal_effect	0.85551020
90	MP0003137_abnormal_impulse_conducting	0.84887621
91	MP0001963_abnormal_hearing_physiology	0.84608515
92	MP0006035_abnormal_mitochondrial_morpho	0.84564763
93	MP0000372_irregular_coat_pigmentation	0.83965340
94	MP0000537_abnormal_urethra_morphology	0.82051127
95	MP0003755_abnormal_palate_morphology	0.81641761
96	MP0005391_vision/eye_phenotype	0.80416605
97	MP0002066_abnormal_motor_capabilities/c	0.79358245
98	MP0005195_abnormal_posterior_eye	0.79249230
99	MP0003315_abnormal_perineum_morphology	0.76999602
100	MP0003941_abnormal_skin_development	0.76696621

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.29101253
2	Myokymia (HP:0002411)	3.91848256
3	Abnormal mitochondria in muscle tissue (HP:0008316)	3.80817168
4	Acute encephalopathy (HP:0006846)	3.71419125
5	Progressive macrocephaly (HP:0004481)	3.66074695
6	Mitochondrial inheritance (HP:0001427)	3.62485139
7	Increased hepatocellular lipid droplets (HP:0006565)	3.28692696
8	Abnormality of the labia minora (HP:0012880)	3.17829524
9	Septo-optic dysplasia (HP:0100842)	3.12697322
10	Increased CSF lactate (HP:0002490)	3.12631077
11	Limb dystonia (HP:0002451)	2.93255657
12	Hepatocellular necrosis (HP:0001404)	2.92967417
13	Focal motor seizures (HP:0011153)	2.90290908
14	Lipid accumulation in hepatocytes (HP:0006561)	2.87143202
15	Renal Fanconi syndrome (HP:0001994)	2.84825780
16	Hepatic necrosis (HP:0002605)	2.68238287
17	Pancreatic fibrosis (HP:0100732)	2.67031318
18	Cerebral edema (HP:0002181)	2.64752871
19	Colon cancer (HP:0003003)	2.56780445
20	True hermaphroditism (HP:0010459)	2.55125563
21	Medial flaring of the eyebrow (HP:0010747)	2.53278208
22	Gait imbalance (HP:0002141)	2.52424994
23	Polyphagia (HP:0002591)	2.39390306
24	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.39336367
25	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.39336367
26	Pancreatic cysts (HP:0001737)	2.35126770
27	3-Methylglutaconic aciduria (HP:0003535)	2.31726992
28	Anophthalmia (HP:0000528)	2.31512038
29	Genital tract atresia (HP:0001827)	2.31457055
30	Vaginal atresia (HP:0000148)	2.30457851
31	Congenital primary aphakia (HP:0007707)	2.30293950
32	Abnormality of midbrain morphology (HP:0002418)	2.28138031
33	Molar tooth sign on MRI (HP:0002419)	2.28138031
34	Optic nerve hypoplasia (HP:0000609)	2.26899790
35	Poor suck (HP:0002033)	2.25856016
36	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.14959894
37	Optic disc pallor (HP:0000543)	2.13496002
38	Leukodystrophy (HP:0002415)	2.12220214
39	Absent septum pellucidum (HP:0001331)	2.10570882
40	Hyperglycinemia (HP:0002154)	2.09929759
41	Nephrogenic diabetes insipidus (HP:0009806)	2.08964785
42	Bifid tongue (HP:0010297)	2.08676012
43	Atonic seizures (HP:0010819)	2.06767757
44	Congenital, generalized hypertrichosis (HP:0004540)	2.04259527
45	Nephronophthisis (HP:0000090)	2.03761572
46	Reticulocytopenia (HP:0001896)	2.03232519
47	Sclerocornea (HP:0000647)	2.02893461
48	Focal seizures (HP:0007359)	2.02116093
49	Intestinal atresia (HP:0011100)	2.00280142
50	Increased intramyocellular lipid droplets (HP:0012240)	1.95584053
51	Exertional dyspnea (HP:0002875)	1.92694807
52	Methylmalonic acidemia (HP:0002912)	1.92113592
53	Abnormal number of erythroid precursors (HP:0012131)	1.91118846
54	Anencephaly (HP:0002323)	1.89774869
55	X-linked dominant inheritance (HP:0001423)	1.88583778
56	Respiratory failure (HP:0002878)	1.86727317
57	Hypothermia (HP:0002045)	1.86526094
58	Lactic acidosis (HP:0003128)	1.85473880
59	Abnormality of renal resorption (HP:0011038)	1.84678506
60	Bilateral microphthalmos (HP:0007633)	1.83940115
61	Macrocytic anemia (HP:0001972)	1.83525003
62	Esophageal atresia (HP:0002032)	1.81992317
63	Oligodactyly (hands) (HP:0001180)	1.79956932
64	Abnormality of the anterior horn cell (HP:0006802)	1.78703496
65	Degeneration of anterior horn cells (HP:0002398)	1.78703496
66	Gastrointestinal atresia (HP:0002589)	1.78476158
67	Dialeptic seizures (HP:0011146)	1.77255593
68	Abnormality of the septum pellucidum (HP:0007375)	1.75905030
69	Split foot (HP:0001839)	1.74660636
70	Abnormality of cells of the erythroid lineage (HP:0012130)	1.73520640
71	Maternal diabetes (HP:0009800)	1.71010435
72	Renal hypoplasia (HP:0000089)	1.69482547
73	Short tibia (HP:0005736)	1.69295043
74	Abnormality of urine glucose concentration (HP:0011016)	1.69089038
75	Glycosuria (HP:0003076)	1.69089038
76	Exercise intolerance (HP:0003546)	1.68795295
77	Broad-based gait (HP:0002136)	1.68506447
78	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.68363983
79	Abnormal lung lobation (HP:0002101)	1.67576362
80	Postaxial hand polydactyly (HP:0001162)	1.67542711
81	Hypoplastic pelvis (HP:0008839)	1.67417028
82	Increased serum lactate (HP:0002151)	1.67311083
83	Preaxial hand polydactyly (HP:0001177)	1.66795586
84	Congenital malformation of the right heart (HP:0011723)	1.66717122
85	Double outlet right ventricle (HP:0001719)	1.66717122
86	Febrile seizures (HP:0002373)	1.66233349
87	Labial hypoplasia (HP:0000066)	1.63569166
88	Retinal dysplasia (HP:0007973)	1.62754861
89	Hypoplastic female external genitalia (HP:0012815)	1.61950485
90	Specific learning disability (HP:0001328)	1.61265991
91	Generalized tonic-clonic seizures (HP:0002069)	1.59704906
92	Triphalangeal thumb (HP:0001199)	1.59306198
93	Lissencephaly (HP:0001339)	1.58984804
94	Absence seizures (HP:0002121)	1.56666212
95	Methylmalonic aciduria (HP:0012120)	1.56436568
96	Rib fusion (HP:0000902)	1.56066674
97	Stenosis of the external auditory canal (HP:0000402)	1.56038628
98	Male pseudohermaphroditism (HP:0000037)	1.55962099
99	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.54882413
100	Broad foot (HP:0001769)	1.54660771

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CASK	3.04149817
2	MARK1	2.81106092
3	VRK2	2.78908743
4	TNIK	2.76338521
5	WNK3	2.69596145
6	DYRK2	2.27868811
7	PNCK	2.23678777
8	TRIM28	2.16726352
9	BUB1	1.96749397
10	MAP3K4	1.91355289
11	EPHA4	1.84368179
12	MAP4K2	1.82806833
13	CDC7	1.79595775
14	MAP3K12	1.76606095
15	MAP2K7	1.76239094
16	SRPK1	1.71368715
17	BMPR1B	1.70157175
18	PLK3	1.68805969
19	STK16	1.68026583
20	PLK2	1.62605528
21	VRK1	1.60451575
22	ZAK	1.56532487
23	CSNK1G2	1.54405187
24	MAPK13	1.48886058
25	MINK1	1.45301402
26	MKNK2	1.44982160
27	EPHB2	1.40418550
28	TSSK6	1.38954955
29	CSNK1G1	1.37721639
30	NTRK2	1.37552849
31	CSNK1G3	1.36818354
32	NUAK1	1.35724942
33	PBK	1.34965270
34	BCR	1.34180654
35	PLK4	1.29118186
36	MKNK1	1.27385829
37	WEE1	1.26340100
38	UHMK1	1.24254422
39	NME1	1.23566802
40	PRKCG	1.22646800
41	NEK1	1.11152899
42	DYRK3	1.10251788
43	BCKDK	1.09844530
44	TAF1	1.09393892
45	MST4	1.07066305
46	PAK3	1.07054948
47	LIMK1	1.02655706
48	PINK1	1.01569787
49	CSNK1A1L	0.99985673
50	GRK1	0.94148989
51	CDK19	0.93747979
52	MAP3K9	0.91704438
53	NTRK3	0.91444005
54	PLK1	0.89230744
55	ADRBK2	0.89154812
56	ERBB3	0.84463243
57	FGFR2	0.84214760
58	INSRR	0.83523283
59	TTK	0.82524030
60	GRK5	0.75995640
61	PRKCE	0.70828695
62	CAMK2A	0.70007414
63	PHKG1	0.69386316
64	PHKG2	0.69386316
65	DAPK2	0.68434293
66	BRSK1	0.68242005
67	OXSR1	0.67487483
68	CDK14	0.67166658
69	MAP2K4	0.65677547
70	DYRK1A	0.65009885
71	CDK18	0.62590400
72	PAK6	0.59547496
73	CDK15	0.58041564
74	TIE1	0.55807804
75	CDK11A	0.54672431
76	CDK5	0.53623492
77	CSNK1E	0.52553976
78	BRSK2	0.51965346
79	EIF2AK1	0.51672947
80	CDK3	0.51485543
81	MYLK	0.49242805
82	CAMK2B	0.49153001
83	ADRBK1	0.48718104
84	ERBB4	0.48354706
85	STK38L	0.48089339
86	TLK1	0.46991274
87	ACVR1B	0.46268282
88	PKN1	0.46029918
89	TGFBR1	0.45886853
90	CHEK2	0.45732243
91	WNK4	0.44857090
92	DAPK1	0.44529557
93	FRK	0.43603451
94	MAPK15	0.43555989
95	CAMK2D	0.43435155
96	AURKB	0.43143305
97	AURKA	0.43081184
98	TESK1	0.42249925
99	NTRK1	0.41825439
100	CSNK1A1	0.41799383

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.14960890
2	Parkinsons disease_Homo sapiens_hsa05012	3.67244487
3	Proteasome_Homo sapiens_hsa03050	2.84861193
4	Protein export_Homo sapiens_hsa03060	2.81726450
5	Ribosome_Homo sapiens_hsa03010	2.74450214
6	Huntingtons disease_Homo sapiens_hsa05016	2.59937430
7	Alzheimers disease_Homo sapiens_hsa05010	2.52510525
8	Nicotine addiction_Homo sapiens_hsa05033	2.27718835
9	Cardiac muscle contraction_Homo sapiens_hsa04260	2.20453123
10	RNA polymerase_Homo sapiens_hsa03020	2.16196524
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.11665017
12	Mismatch repair_Homo sapiens_hsa03430	2.01057708
13	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.75994400
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.47737886
15	Steroid biosynthesis_Homo sapiens_hsa00100	1.46466411
16	Homologous recombination_Homo sapiens_hsa03440	1.37426867
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.37135259
18	Fatty acid elongation_Homo sapiens_hsa00062	1.35013799
19	DNA replication_Homo sapiens_hsa03030	1.33758744
20	Propanoate metabolism_Homo sapiens_hsa00640	1.33275744
21	GABAergic synapse_Homo sapiens_hsa04727	1.32768740
22	Phototransduction_Homo sapiens_hsa04744	1.27654516
23	Spliceosome_Homo sapiens_hsa03040	1.25148882
24	Butanoate metabolism_Homo sapiens_hsa00650	1.24450072
25	Basal transcription factors_Homo sapiens_hsa03022	1.24178585
26	Folate biosynthesis_Homo sapiens_hsa00790	1.22031090
27	Pyruvate metabolism_Homo sapiens_hsa00620	1.21623458
28	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.19487605
29	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.16054735
30	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.15898333
31	Collecting duct acid secretion_Homo sapiens_hsa04966	1.15631843
32	Basal cell carcinoma_Homo sapiens_hsa05217	1.13945152
33	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.09360772
34	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.07782045
35	Morphine addiction_Homo sapiens_hsa05032	1.07385610
36	Fanconi anemia pathway_Homo sapiens_hsa03460	1.06817445
37	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.06677850
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.05981001
39	RNA degradation_Homo sapiens_hsa03018	1.04837126
40	Base excision repair_Homo sapiens_hsa03410	1.03209765
41	Cocaine addiction_Homo sapiens_hsa05030	0.99075697
42	Circadian entrainment_Homo sapiens_hsa04713	0.98393728
43	Pyrimidine metabolism_Homo sapiens_hsa00240	0.98276855
44	Glutamatergic synapse_Homo sapiens_hsa04724	0.97092096
45	Nucleotide excision repair_Homo sapiens_hsa03420	0.93853763
46	Purine metabolism_Homo sapiens_hsa00230	0.92865067
47	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.92563466
48	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.91921551
49	Taste transduction_Homo sapiens_hsa04742	0.90926840
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.90866600
51	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.90385437
52	Dopaminergic synapse_Homo sapiens_hsa04728	0.89244238
53	RNA transport_Homo sapiens_hsa03013	0.88061457
54	Non-homologous end-joining_Homo sapiens_hsa03450	0.83323007
55	Amphetamine addiction_Homo sapiens_hsa05031	0.82838585
56	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.82103666
57	Glutathione metabolism_Homo sapiens_hsa00480	0.80503891
58	Serotonergic synapse_Homo sapiens_hsa04726	0.80350122
59	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.79184459
60	Oocyte meiosis_Homo sapiens_hsa04114	0.76509589
61	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.75583819
62	Nitrogen metabolism_Homo sapiens_hsa00910	0.74401787
63	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.74390775
64	Metabolic pathways_Homo sapiens_hsa01100	0.71946925
65	Hippo signaling pathway_Homo sapiens_hsa04390	0.70315396
66	Peroxisome_Homo sapiens_hsa04146	0.69343101
67	Insulin secretion_Homo sapiens_hsa04911	0.67363651
68	One carbon pool by folate_Homo sapiens_hsa00670	0.67213724
69	Wnt signaling pathway_Homo sapiens_hsa04310	0.65095067
70	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.63358270
71	Selenocompound metabolism_Homo sapiens_hsa00450	0.62415221
72	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.61993365
73	Sulfur relay system_Homo sapiens_hsa04122	0.61390185
74	Olfactory transduction_Homo sapiens_hsa04740	0.61373779
75	beta-Alanine metabolism_Homo sapiens_hsa00410	0.61224541
76	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.57689605
77	Tryptophan metabolism_Homo sapiens_hsa00380	0.55384560
78	Cell cycle_Homo sapiens_hsa04110	0.54960309
79	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.51760135
80	Vibrio cholerae infection_Homo sapiens_hsa05110	0.51364745
81	Axon guidance_Homo sapiens_hsa04360	0.50052298
82	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49313931
83	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.48499817
84	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.46348667
85	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.45463004
86	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.44860693
87	Carbon metabolism_Homo sapiens_hsa01200	0.43734459
88	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.43433846
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.43168308
90	Gap junction_Homo sapiens_hsa04540	0.42165574
91	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.41934267
92	Alcoholism_Homo sapiens_hsa05034	0.41086831
93	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.40888598
94	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.40713519
95	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.39516151
96	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.38421776
97	Fatty acid metabolism_Homo sapiens_hsa01212	0.38392503
98	Sulfur metabolism_Homo sapiens_hsa00920	0.37019894
99	Cholinergic synapse_Homo sapiens_hsa04725	0.36968793
100	Melanogenesis_Homo sapiens_hsa04916	0.36879365

BEX3

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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