ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	7.01154044
2	ATP synthesis coupled proton transport (GO:0015986)	6.30035127
3	energy coupled proton transport, down electrochemical gradient (GO:0015985)	6.30035127
4	establishment of protein localization to mitochondrial membrane (GO:0090151)	5.88373710
5	proteasome assembly (GO:0043248)	5.10109689
6	sequestering of actin monomers (GO:0042989)	5.09605664
7	protein complex biogenesis (GO:0070271)	4.94029361
8	mitochondrial respiratory chain complex assembly (GO:0033108)	4.50940240
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.47744242
10	NADH dehydrogenase complex assembly (GO:0010257)	4.47744242
11	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.47744242
12	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.43871896
13	respiratory electron transport chain (GO:0022904)	4.37472730
14	electron transport chain (GO:0022900)	4.28456590
15	protein neddylation (GO:0045116)	4.22910233
16	protein-cofactor linkage (GO:0018065)	4.13658154
17	dopaminergic neuron differentiation (GO:0071542)	4.12899885
18	DNA damage response, detection of DNA damage (GO:0042769)	4.12728979
19	respiratory chain complex IV assembly (GO:0008535)	3.83708056
20	protein targeting to mitochondrion (GO:0006626)	3.78231484
21	chaperone-mediated protein transport (GO:0072321)	3.77496694
22	regulation of mitochondrial translation (GO:0070129)	3.74603260
23	protein localization to mitochondrion (GO:0070585)	3.72419767
24	establishment of protein localization to mitochondrion (GO:0072655)	3.70379895
25	rRNA modification (GO:0000154)	3.61107869
26	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.59835841
27	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.59835841
28	cytochrome complex assembly (GO:0017004)	3.58218159
29	GTP biosynthetic process (GO:0006183)	3.58050608
30	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.52726725
31	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.51511710
32	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.50287216
33	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.48800278
34	inner mitochondrial membrane organization (GO:0007007)	3.48771994
35	regulation of glucokinase activity (GO:0033131)	3.48135528
36	regulation of hexokinase activity (GO:1903299)	3.48135528
37	ATP biosynthetic process (GO:0006754)	3.45879121
38	hydrogen ion transmembrane transport (GO:1902600)	3.43394653
39	water-soluble vitamin biosynthetic process (GO:0042364)	3.38670098
40	pseudouridine synthesis (GO:0001522)	3.33520744
41	ubiquinone biosynthetic process (GO:0006744)	3.20296654
42	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.13317997
43	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.11953721
44	proton transport (GO:0015992)	3.11510988
45	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.09759574
46	intracellular protein transmembrane import (GO:0044743)	3.06667013
47	indolalkylamine metabolic process (GO:0006586)	3.05532081
48	hydrogen transport (GO:0006818)	3.05023220
49	hindbrain development (GO:0030902)	3.02915051
50	ubiquinone metabolic process (GO:0006743)	3.02329803
51	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.00104471
52	positive regulation of prostaglandin secretion (GO:0032308)	2.98626655
53	mitochondrial transport (GO:0006839)	2.98137310
54	neuron fate specification (GO:0048665)	2.97376142
55	termination of RNA polymerase III transcription (GO:0006386)	2.96256391
56	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.96256391
57	rRNA methylation (GO:0031167)	2.94179247
58	tRNA processing (GO:0008033)	2.92451769
59	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.89204461
60	regulation of cellular amino acid metabolic process (GO:0006521)	2.88328593
61	dopamine biosynthetic process (GO:0042416)	2.87704669
62	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.85392662
63	substrate-independent telencephalic tangential migration (GO:0021826)	2.85392662
64	behavioral response to nicotine (GO:0035095)	2.84917512
65	UTP biosynthetic process (GO:0006228)	2.84127561
66	nucleoside triphosphate biosynthetic process (GO:0009142)	2.83658049
67	cellular component biogenesis (GO:0044085)	2.82819082
68	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.82705407
69	rRNA processing (GO:0006364)	2.81172997
70	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.80317009
71	negative regulation of ligase activity (GO:0051352)	2.80317009
72	ribosomal large subunit biogenesis (GO:0042273)	2.80191940
73	rRNA metabolic process (GO:0016072)	2.78772880
74	transcription from mitochondrial promoter (GO:0006390)	2.77882179
75	serotonin metabolic process (GO:0042428)	2.76151120
76	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.75651668
77	guanosine-containing compound biosynthetic process (GO:1901070)	2.75213978
78	translation (GO:0006412)	2.75189783
79	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.74539966
80	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.72533703
81	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.72533703
82	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.72533703
83	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.72128467
84	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.72128467
85	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.71734885
86	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.71451248
87	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.71451248
88	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.69330101
89	cotranslational protein targeting to membrane (GO:0006613)	2.67648404
90	DNA replication checkpoint (GO:0000076)	2.66551383
91	adenosine metabolic process (GO:0046085)	2.65859303
92	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.64658642
93	tRNA metabolic process (GO:0006399)	2.64266456
94	viral transcription (GO:0019083)	2.63798458
95	nucleoside diphosphate phosphorylation (GO:0006165)	2.62724114
96	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.62493446
97	translational termination (GO:0006415)	2.62243437
98	protein K6-linked ubiquitination (GO:0085020)	2.61474470
99	quinone biosynthetic process (GO:1901663)	2.61165161
100	protein targeting to ER (GO:0045047)	2.60248818

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.88321654
2	EST1_17652178_ChIP-ChIP_JURKAT_Human	4.09759270
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.92561153
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.91115670
5	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.59696890
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.39108266
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.30830223
8	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.16234417
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.10375661
10	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.89307294
11	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.86341422
12	ELK1_19687146_ChIP-ChIP_HELA_Human	2.72350370
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.69953252
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.69695877
15	VDR_22108803_ChIP-Seq_LS180_Human	2.59743144
16	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.59645965
17	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.57531077
18	ZNF274_21170338_ChIP-Seq_K562_Hela	2.32066592
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.18787811
20	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.15971351
21	IGF1R_20145208_ChIP-Seq_DFB_Human	2.12135761
22	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.09759272
23	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.08548159
24	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.05641748
25	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.00441982
26	FOXP3_21729870_ChIP-Seq_TREG_Human	1.95820662
27	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.92295565
28	MYC_18940864_ChIP-ChIP_HL60_Human	1.90202330
29	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.81827047
30	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.78956852
31	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.74203788
32	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.71786224
33	E2F7_22180533_ChIP-Seq_HELA_Human	1.69537330
34	TTF2_22483619_ChIP-Seq_HELA_Human	1.67279272
35	EZH2_22144423_ChIP-Seq_EOC_Human	1.65936484
36	GABP_19822575_ChIP-Seq_HepG2_Human	1.61988853
37	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.61935463
38	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.60913114
39	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.60745863
40	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.59987593
41	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.59879209
42	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.59840200
43	DCP1A_22483619_ChIP-Seq_HELA_Human	1.56935409
44	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.55254811
45	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.53165399
46	EWS_26573619_Chip-Seq_HEK293_Human	1.52616660
47	XRN2_22483619_ChIP-Seq_HELA_Human	1.48165617
48	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.45520471
49	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.43251526
50	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.39409681
51	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.38638839
52	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.37199505
53	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.36753708
54	TAF15_26573619_Chip-Seq_HEK293_Human	1.36423635
55	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.35269791
56	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.30665981
57	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.28097140
58	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.25571641
59	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.24595515
60	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.24594498
61	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.21480031
62	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.20915075
63	FUS_26573619_Chip-Seq_HEK293_Human	1.20096373
64	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.17851719
65	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.15042810
66	TP53_22573176_ChIP-Seq_HFKS_Human	1.11395058
67	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.10675100
68	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.09407541
69	GBX2_23144817_ChIP-Seq_PC3_Human	1.08256805
70	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.07840051
71	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.06777095
72	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.06368222
73	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.04426295
74	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.03236048
75	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.03191685
76	RNF2_27304074_Chip-Seq_NSC_Mouse	1.01774342
77	IRF1_19129219_ChIP-ChIP_H3396_Human	0.98919502
78	CIITA_25753668_ChIP-Seq_RAJI_Human	0.97952365
79	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.97138040
80	HTT_18923047_ChIP-ChIP_STHdh_Human	0.95948808
81	P300_19829295_ChIP-Seq_ESCs_Human	0.94127062
82	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.93517976
83	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	0.93231776
84	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.92867181
85	KDM5A_27292631_Chip-Seq_BREAST_Human	0.92624810
86	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.90495782
87	CTBP2_25329375_ChIP-Seq_LNCAP_Human	0.90213122
88	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.88844489
89	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.88844489
90	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.86840115
91	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.85722418
92	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	0.82693105
93	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.82642534
94	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.81446802
95	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.81446802
96	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.81222799
97	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.78167606
98	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.77871728
99	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.76904945
100	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.76686113

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	5.92282324
2	MP0001529_abnormal_vocalization	3.83905153
3	MP0002102_abnormal_ear_morphology	3.50606575
4	MP0000566_synostosis	3.31275352
5	MP0006072_abnormal_retinal_apoptosis	3.10302955
6	MP0003011_delayed_dark_adaptation	2.78752111
7	MP0005645_abnormal_hypothalamus_physiol	2.76685333
8	MP0003806_abnormal_nucleotide_metabolis	2.55403885
9	MP0001905_abnormal_dopamine_level	2.36358759
10	MP0003880_abnormal_central_pattern	2.30335607
11	MP0003195_calcinosis	2.13282600
12	MP0006276_abnormal_autonomic_nervous	2.04590321
13	MP0004742_abnormal_vestibular_system	2.02568272
14	MP0002909_abnormal_adrenal_gland	1.88843468
15	MP0000372_irregular_coat_pigmentation	1.88493357
16	MP0003283_abnormal_digestive_organ	1.82600658
17	MP0002938_white_spotting	1.82418012
18	MP0002163_abnormal_gland_morphology	1.80340393
19	MP0006292_abnormal_olfactory_placode	1.78084859
20	MP0003121_genomic_imprinting	1.77073671
21	MP0010094_abnormal_chromosome_stability	1.77024663
22	MP0006035_abnormal_mitochondrial_morpho	1.65015966
23	MP0009379_abnormal_foot_pigmentation	1.64461670
24	MP0002822_catalepsy	1.63718974
25	MP0008872_abnormal_physiological_respon	1.63105651
26	MP0002837_dystrophic_cardiac_calcinosis	1.57392255
27	MP0008058_abnormal_DNA_repair	1.56325951
28	MP0003122_maternal_imprinting	1.54999650
29	MP0001346_abnormal_lacrimal_gland	1.53032160
30	MP0008789_abnormal_olfactory_epithelium	1.49527781
31	MP0003186_abnormal_redox_activity	1.46529871
32	MP0008877_abnormal_DNA_methylation	1.46242422
33	MP0003693_abnormal_embryo_hatching	1.45676892
34	MP0005253_abnormal_eye_physiology	1.43065611
35	MP0000631_abnormal_neuroendocrine_gland	1.39810020
36	MP0003937_abnormal_limbs/digits/tail_de	1.39454154
37	MP0006036_abnormal_mitochondrial_physio	1.39219174
38	MP0004133_heterotaxia	1.38753400
39	MP0003123_paternal_imprinting	1.35530517
40	MP0009697_abnormal_copulation	1.34639985
41	MP0003787_abnormal_imprinting	1.34427444
42	MP0003315_abnormal_perineum_morphology	1.32025134
43	MP0003077_abnormal_cell_cycle	1.30804733
44	MP0005084_abnormal_gallbladder_morpholo	1.28692892
45	MP0002160_abnormal_reproductive_system	1.25592937
46	MP0005499_abnormal_olfactory_system	1.20892898
47	MP0005394_taste/olfaction_phenotype	1.20892898
48	MP0003646_muscle_fatigue	1.19453872
49	MP0003786_premature_aging	1.19180868
50	MP0005220_abnormal_exocrine_pancreas	1.16779953
51	MP0005379_endocrine/exocrine_gland_phen	1.16503216
52	MP0004924_abnormal_behavior	1.14331390
53	MP0005386_behavior/neurological_phenoty	1.14331390
54	MP0004885_abnormal_endolymph	1.13016503
55	MP0008995_early_reproductive_senescence	1.09049771
56	MP0004142_abnormal_muscle_tone	1.08804492
57	MP0005551_abnormal_eye_electrophysiolog	1.07092968
58	MP0005646_abnormal_pituitary_gland	1.02452109
59	MP0000778_abnormal_nervous_system	1.01534722
60	MP0002184_abnormal_innervation	0.99774627
61	MP0009745_abnormal_behavioral_response	0.98022853
62	MP0009046_muscle_twitch	0.97689561
63	MP0002751_abnormal_autonomic_nervous	0.96903060
64	MP0001944_abnormal_pancreas_morphology	0.94305771
65	MP0002272_abnormal_nervous_system	0.91898744
66	MP0002557_abnormal_social/conspecific_i	0.91707516
67	MP0000358_abnormal_cell_content/	0.90108996
68	MP0001293_anophthalmia	0.87632006
69	MP0001324_abnormal_eye_pigmentation	0.87589575
70	MP0005187_abnormal_penis_morphology	0.87511562
71	MP0000049_abnormal_middle_ear	0.87440816
72	MP0001984_abnormal_olfaction	0.86767744
73	MP0004957_abnormal_blastocyst_morpholog	0.86399724
74	MP0002067_abnormal_sensory_capabilities	0.84388294
75	MP0002734_abnormal_mechanical_nocicepti	0.83697540
76	MP0005195_abnormal_posterior_eye	0.83397764
77	MP0002210_abnormal_sex_determination	0.81820169
78	MP0003890_abnormal_embryonic-extraembry	0.80554293
79	MP0000026_abnormal_inner_ear	0.78722767
80	MP0002693_abnormal_pancreas_physiology	0.78587888
81	MP0009250_abnormal_appendicular_skeleto	0.77865138
82	MP0002277_abnormal_respiratory_mucosa	0.77577098
83	MP0002752_abnormal_somatic_nervous	0.76791036
84	MP0005266_abnormal_metabolism	0.75889285
85	MP0001486_abnormal_startle_reflex	0.75708537
86	MP0002095_abnormal_skin_pigmentation	0.75697169
87	MP0005636_abnormal_mineral_homeostasis	0.75326028
88	MP0005391_vision/eye_phenotype	0.74852143
89	MP0009053_abnormal_anal_canal	0.73455898
90	MP0002572_abnormal_emotion/affect_behav	0.73271639
91	MP0005332_abnormal_amino_acid	0.72602730
92	MP0004043_abnormal_pH_regulation	0.71650381
93	MP0005389_reproductive_system_phenotype	0.69422420
94	MP0008875_abnormal_xenobiotic_pharmacok	0.69404034
95	MP0003119_abnormal_digestive_system	0.68438241
96	MP0004147_increased_porphyrin_level	0.67953045
97	MP0002177_abnormal_outer_ear	0.67511386
98	MP0003111_abnormal_nucleus_morphology	0.66595732
99	MP0003698_abnormal_male_reproductive	0.64446859
100	MP0002234_abnormal_pharynx_morphology	0.63274648

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.61718576
2	Abnormal mitochondria in muscle tissue (HP:0008316)	4.33255763
3	Mitochondrial inheritance (HP:0001427)	4.33235262
4	Progressive macrocephaly (HP:0004481)	4.17175296
5	Increased hepatocellular lipid droplets (HP:0006565)	4.08385965
6	Increased CSF lactate (HP:0002490)	4.08095870
7	Lipid accumulation in hepatocytes (HP:0006561)	3.94867253
8	Hypothermia (HP:0002045)	3.85662343
9	Methylmalonic acidemia (HP:0002912)	3.82015149
10	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.73667858
11	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.73667858
12	Hepatic necrosis (HP:0002605)	3.68018006
13	Hepatocellular necrosis (HP:0001404)	3.63265700
14	Acute encephalopathy (HP:0006846)	3.61086648
15	Renal Fanconi syndrome (HP:0001994)	3.34357834
16	Increased intramyocellular lipid droplets (HP:0012240)	3.12563094
17	3-Methylglutaconic aciduria (HP:0003535)	3.07886769
18	Methylmalonic aciduria (HP:0012120)	3.05909276
19	Increased serum pyruvate (HP:0003542)	3.03157992
20	Limb dystonia (HP:0002451)	3.02988721
21	Cerebral edema (HP:0002181)	2.88714470
22	Increased serum lactate (HP:0002151)	2.88110928
23	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.73789504
24	Abnormality of alanine metabolism (HP:0010916)	2.73789504
25	Hyperalaninemia (HP:0003348)	2.73789504
26	Abnormality of glycolysis (HP:0004366)	2.64442174
27	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.64107618
28	Exertional dyspnea (HP:0002875)	2.59284881
29	Type II lissencephaly (HP:0007260)	2.58664002
30	Increased muscle lipid content (HP:0009058)	2.56950244
31	Lactic acidosis (HP:0003128)	2.56264709
32	Retinal dysplasia (HP:0007973)	2.55272787
33	Molar tooth sign on MRI (HP:0002419)	2.48392174
34	Abnormality of midbrain morphology (HP:0002418)	2.48392174
35	Pancreatic cysts (HP:0001737)	2.46649406
36	Abnormality of renal resorption (HP:0011038)	2.45644176
37	Renal cortical cysts (HP:0000803)	2.45427418
38	Optic disc pallor (HP:0000543)	2.39851620
39	Glycosuria (HP:0003076)	2.31763303
40	Abnormality of urine glucose concentration (HP:0011016)	2.31763303
41	Abnormality of vitamin B metabolism (HP:0004340)	2.30377348
42	Oral leukoplakia (HP:0002745)	2.27372670
43	Hypoglycemic coma (HP:0001325)	2.22260179
44	Leukodystrophy (HP:0002415)	2.21907402
45	Abnormality of the labia minora (HP:0012880)	2.20489985
46	Medial flaring of the eyebrow (HP:0010747)	2.20299402
47	Pancreatic fibrosis (HP:0100732)	2.19643679
48	Generalized aminoaciduria (HP:0002909)	2.17793893
49	Microvesicular hepatic steatosis (HP:0001414)	2.17775374
50	Testicular atrophy (HP:0000029)	2.17754511
51	Respiratory failure (HP:0002878)	2.16446663
52	Dicarboxylic aciduria (HP:0003215)	2.14422865
53	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.14422865
54	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.13109545
55	Congenital, generalized hypertrichosis (HP:0004540)	2.13079384
56	True hermaphroditism (HP:0010459)	2.12337543
57	Opisthotonus (HP:0002179)	2.12179294
58	Agitation (HP:0000713)	2.09353081
59	Exercise intolerance (HP:0003546)	2.08680532
60	Nephronophthisis (HP:0000090)	2.03558182
61	Abnormality of the renal cortex (HP:0011035)	2.03548855
62	Lethargy (HP:0001254)	1.99849880
63	Cerebellar dysplasia (HP:0007033)	1.99743836
64	Adrenal hypoplasia (HP:0000835)	1.99306678
65	Lissencephaly (HP:0001339)	1.98390375
66	Macrocytic anemia (HP:0001972)	1.95724003
67	Unsteady gait (HP:0002317)	1.90732552
68	Hyperglycinemia (HP:0002154)	1.87854431
69	Progressive inability to walk (HP:0002505)	1.86906001
70	Abnormal number of erythroid precursors (HP:0012131)	1.86229887
71	Hypoplasia of the pons (HP:0012110)	1.85963411
72	Hyperphosphaturia (HP:0003109)	1.84978944
73	Concave nail (HP:0001598)	1.84516214
74	Large for gestational age (HP:0001520)	1.84041831
75	Limb hypertonia (HP:0002509)	1.83190794
76	Blindness (HP:0000618)	1.80650335
77	Respiratory difficulties (HP:0002880)	1.79434858
78	Focal motor seizures (HP:0011153)	1.79227563
79	Hypoglycemic seizures (HP:0002173)	1.79179492
80	Abnormal number of incisors (HP:0011064)	1.78316872
81	Emotional lability (HP:0000712)	1.78299628
82	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.77901940
83	Abnormality of the pons (HP:0007361)	1.77278062
84	Cerebral hypomyelination (HP:0006808)	1.74093016
85	Hyperinsulinemic hypoglycemia (HP:0000825)	1.73772603
86	Abnormality of abdominal situs (HP:0011620)	1.72802863
87	Abdominal situs inversus (HP:0003363)	1.72802863
88	Muscular hypotonia of the trunk (HP:0008936)	1.72591464
89	Absent/shortened dynein arms (HP:0200106)	1.69972932
90	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.69972932
91	Sclerocornea (HP:0000647)	1.69818596
92	Poor suck (HP:0002033)	1.69750676
93	Abnormal respiratory motile cilium morphology (HP:0005938)	1.68201050
94	Abnormal respiratory epithelium morphology (HP:0012253)	1.68201050
95	Pendular nystagmus (HP:0012043)	1.66658466
96	Pachygyria (HP:0001302)	1.66295877
97	Brushfield spots (HP:0001088)	1.64772391
98	Aplasia/hypoplasia of the uterus (HP:0008684)	1.64513212
99	Abnormality of cells of the erythroid lineage (HP:0012130)	1.64412899
100	Poor head control (HP:0002421)	1.62257387

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.52188341
2	WNK3	3.38615427
3	MAP3K4	2.99614027
4	VRK2	2.93424101
5	MAP2K7	2.90108821
6	TLK1	2.72214309
7	ZAK	2.48876256
8	VRK1	2.48508243
9	SRPK1	2.37465771
10	CDC7	2.34724805
11	BCKDK	2.18460218
12	BUB1	2.00614447
13	PINK1	1.96989617
14	TSSK6	1.84186521
15	CSNK1G3	1.77141514
16	NEK1	1.76031118
17	ADRBK2	1.75099414
18	DYRK2	1.71803473
19	CSNK1G2	1.67753954
20	CDK8	1.62027428
21	MUSK	1.61744410
22	PNCK	1.60616185
23	CSNK1A1L	1.60326757
24	CSNK1G1	1.53002605
25	MST4	1.46998437
26	MARK1	1.46601121
27	BMPR1B	1.45632695
28	NME2	1.44679536
29	EIF2AK1	1.40106271
30	LIMK1	1.34078246
31	ERBB3	1.33263899
32	PASK	1.22149397
33	TAF1	1.20533942
34	GRK1	1.19806430
35	AURKA	1.18504427
36	MAPK13	1.18325267
37	NUAK1	1.17049277
38	WEE1	1.16419100
39	PBK	1.12617849
40	TESK2	1.10747399
41	MKNK2	1.04086629
42	RPS6KA5	1.02720516
43	TNIK	1.02237117
44	CASK	1.00809031
45	EIF2AK3	0.99644289
46	PLK3	0.95757030
47	CDK19	0.93568970
48	ALK	0.92178727
49	STK16	0.91414079
50	CHEK2	0.89960592
51	RPS6KA4	0.88948825
52	MAP2K4	0.88099266
53	DAPK3	0.87749528
54	BMPR2	0.85434569
55	MAP3K12	0.85063491
56	MKNK1	0.81608561
57	PLK1	0.79969128
58	OXSR1	0.77555036
59	AURKB	0.73732519
60	NTRK2	0.71496725
61	ATR	0.68323113
62	TESK1	0.67310551
63	ERBB4	0.67308671
64	PLK4	0.66149994
65	ACVR1B	0.64761436
66	EIF2AK2	0.63500466
67	PHKG1	0.56930109
68	PHKG2	0.56930109
69	ABL2	0.56613188
70	CDK3	0.56589861
71	CSNK2A2	0.55288799
72	CLK1	0.54845548
73	CCNB1	0.52618474
74	PRKCI	0.50917117
75	CSNK1E	0.49631389
76	ILK	0.49510367
77	ADRBK1	0.49177861
78	CSNK1A1	0.49163929
79	TRIM28	0.48032683
80	PLK2	0.46146200
81	KDR	0.45552484
82	PRKCG	0.44858039
83	CSNK2A1	0.44726311
84	CDK14	0.44276855
85	ATM	0.43010072
86	TGFBR1	0.42286872
87	CDK7	0.41286288
88	INSRR	0.41258786
89	AKT2	0.41032253
90	GRK5	0.40331307
91	BRSK1	0.37432114
92	PAK3	0.35606348
93	STK11	0.34168979
94	BCR	0.33912664
95	NME1	0.33537721
96	PKN1	0.33001436
97	TAOK3	0.32639555
98	MINK1	0.32372790
99	DAPK1	0.32295744
100	IKBKB	0.32082165

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.50939407
2	Parkinsons disease_Homo sapiens_hsa05012	3.88756484
3	Proteasome_Homo sapiens_hsa03050	3.70249480
4	Ribosome_Homo sapiens_hsa03010	3.42701281
5	Protein export_Homo sapiens_hsa03060	2.83429656
6	Huntingtons disease_Homo sapiens_hsa05016	2.60392939
7	Alzheimers disease_Homo sapiens_hsa05010	2.47284532
8	RNA polymerase_Homo sapiens_hsa03020	2.43087993
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.38854123
10	Systemic lupus erythematosus_Homo sapiens_hsa05322	2.30287218
11	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.16183318
12	Asthma_Homo sapiens_hsa05310	1.96610907
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.94238775
14	Spliceosome_Homo sapiens_hsa03040	1.87868684
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.82939677
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.77107532
17	Basal transcription factors_Homo sapiens_hsa03022	1.72634568
18	RNA degradation_Homo sapiens_hsa03018	1.65624414
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.62330903
20	DNA replication_Homo sapiens_hsa03030	1.62129751
21	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.54354154
22	Type I diabetes mellitus_Homo sapiens_hsa04940	1.53759472
23	Alcoholism_Homo sapiens_hsa05034	1.52740119
24	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.50584904
25	Pyrimidine metabolism_Homo sapiens_hsa00240	1.39940173
26	RNA transport_Homo sapiens_hsa03013	1.38928854
27	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.38679133
28	Nicotine addiction_Homo sapiens_hsa05033	1.28924552
29	Allograft rejection_Homo sapiens_hsa05330	1.28122448
30	Base excision repair_Homo sapiens_hsa03410	1.27179967
31	One carbon pool by folate_Homo sapiens_hsa00670	1.24526894
32	Mismatch repair_Homo sapiens_hsa03430	1.24422452
33	Homologous recombination_Homo sapiens_hsa03440	1.23762176
34	Folate biosynthesis_Homo sapiens_hsa00790	1.21533333
35	Tryptophan metabolism_Homo sapiens_hsa00380	1.20226982
36	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.18997625
37	Sulfur metabolism_Homo sapiens_hsa00920	1.18288325
38	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.15101254
39	Nucleotide excision repair_Homo sapiens_hsa03420	1.12785070
40	Steroid biosynthesis_Homo sapiens_hsa00100	1.12567732
41	Non-homologous end-joining_Homo sapiens_hsa03450	1.11672030
42	Graft-versus-host disease_Homo sapiens_hsa05332	1.11494471
43	Sulfur relay system_Homo sapiens_hsa04122	1.10660614
44	Purine metabolism_Homo sapiens_hsa00230	1.08798157
45	Fatty acid elongation_Homo sapiens_hsa00062	1.01689860
46	Collecting duct acid secretion_Homo sapiens_hsa04966	0.99126689
47	Peroxisome_Homo sapiens_hsa04146	0.98591385
48	Butanoate metabolism_Homo sapiens_hsa00650	0.97212141
49	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.95662304
50	Selenocompound metabolism_Homo sapiens_hsa00450	0.93226388
51	Glutathione metabolism_Homo sapiens_hsa00480	0.90251513
52	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.82134637
53	Phenylalanine metabolism_Homo sapiens_hsa00360	0.79328502
54	Phototransduction_Homo sapiens_hsa04744	0.78173553
55	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.77690252
56	Propanoate metabolism_Homo sapiens_hsa00640	0.74068437
57	Fanconi anemia pathway_Homo sapiens_hsa03460	0.73765667
58	Metabolic pathways_Homo sapiens_hsa01100	0.69621359
59	Regulation of autophagy_Homo sapiens_hsa04140	0.68213257
60	Antigen processing and presentation_Homo sapiens_hsa04612	0.67935698
61	Pyruvate metabolism_Homo sapiens_hsa00620	0.59618842
62	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.58433912
63	Cell cycle_Homo sapiens_hsa04110	0.58423719
64	Viral myocarditis_Homo sapiens_hsa05416	0.58389683
65	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.56609164
66	Tyrosine metabolism_Homo sapiens_hsa00350	0.55840963
67	Rheumatoid arthritis_Homo sapiens_hsa05323	0.55506675
68	Nitrogen metabolism_Homo sapiens_hsa00910	0.55306246
69	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.54846508
70	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.52113138
71	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.50764360
72	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.47953773
73	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.47149534
74	Olfactory transduction_Homo sapiens_hsa04740	0.43357275
75	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.42815979
76	Cocaine addiction_Homo sapiens_hsa05030	0.41293095
77	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.39212261
78	Dopaminergic synapse_Homo sapiens_hsa04728	0.37974726
79	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.36742971
80	Ether lipid metabolism_Homo sapiens_hsa00565	0.35279391
81	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.33739542
82	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.33310514
83	Oocyte meiosis_Homo sapiens_hsa04114	0.32620037
84	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.31633525
85	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.31236016
86	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.31145829
87	Chemical carcinogenesis_Homo sapiens_hsa05204	0.30175955
88	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.29807558
89	Primary immunodeficiency_Homo sapiens_hsa05340	0.25253197
90	Herpes simplex infection_Homo sapiens_hsa05168	0.25131388
91	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.21974729
92	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.21302116
93	Morphine addiction_Homo sapiens_hsa05032	0.20750846
94	Amphetamine addiction_Homo sapiens_hsa05031	0.20331980
95	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.20164547
96	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.20085358
97	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.19550499
98	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.19086566
99	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.18192978
100	mRNA surveillance pathway_Homo sapiens_hsa03015	0.17814004

NEDD8-MDP1

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)

Most similar genes based on co-expression Upload to Enrichr

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