ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	rRNA catabolic process (GO:0016075)	5.00199564
2	behavioral response to nicotine (GO:0035095)	4.47951231
3	maturation of 5.8S rRNA (GO:0000460)	4.34334568
4	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.20189510
5	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.20189510
6	NADH dehydrogenase complex assembly (GO:0010257)	4.20189510
7	negative regulation of heart rate (GO:0010459)	4.20182857
8	DNA deamination (GO:0045006)	4.14848610
9	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.12501198
10	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.94827902
11	ATP synthesis coupled proton transport (GO:0015986)	3.94827902
12	protein complex biogenesis (GO:0070271)	3.83392038
13	L-fucose catabolic process (GO:0042355)	3.69176047
14	fucose catabolic process (GO:0019317)	3.69176047
15	L-fucose metabolic process (GO:0042354)	3.69176047
16	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.65333795
17	signal peptide processing (GO:0006465)	3.58548943
18	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.53048552
19	mitochondrial respiratory chain complex assembly (GO:0033108)	3.50625640
20	water-soluble vitamin biosynthetic process (GO:0042364)	3.47201660
21	electron transport chain (GO:0022900)	3.41065234
22	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.38593963
23	platelet dense granule organization (GO:0060155)	3.34578476
24	respiratory electron transport chain (GO:0022904)	3.33417352
25	tryptophan catabolic process (GO:0006569)	3.32016359
26	indole-containing compound catabolic process (GO:0042436)	3.32016359
27	indolalkylamine catabolic process (GO:0046218)	3.32016359
28	phosphatidylinositol acyl-chain remodeling (GO:0036149)	3.17734596
29	neurotransmitter uptake (GO:0001504)	3.16603992
30	protein neddylation (GO:0045116)	3.15900920
31	prenylation (GO:0097354)	3.15749836
32	protein prenylation (GO:0018342)	3.15749836
33	kynurenine metabolic process (GO:0070189)	3.14808287
34	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.08423821
35	regulation of cilium movement (GO:0003352)	3.04055865
36	ncRNA catabolic process (GO:0034661)	3.01999103
37	photoreceptor cell maintenance (GO:0045494)	2.98595313
38	hydrogen ion transmembrane transport (GO:1902600)	2.93485273
39	indolalkylamine metabolic process (GO:0006586)	2.92039917
40	mannosylation (GO:0097502)	2.91762111
41	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.90582456
42	peptidyl-histidine modification (GO:0018202)	2.88958170
43	magnesium ion transport (GO:0015693)	2.88616935
44	cellular ketone body metabolic process (GO:0046950)	2.88589269
45	piRNA metabolic process (GO:0034587)	2.88422538
46	ketone body metabolic process (GO:1902224)	2.87113991
47	protein K63-linked deubiquitination (GO:0070536)	2.86979411
48	rRNA methylation (GO:0031167)	2.86301884
49	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.85087503
50	DNA replication checkpoint (GO:0000076)	2.81999679
51	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.80266718
52	proton transport (GO:0015992)	2.79013331
53	nonmotile primary cilium assembly (GO:0035058)	2.78333047
54	negative regulation of telomere maintenance (GO:0032205)	2.77726423
55	hydrogen transport (GO:0006818)	2.76883272
56	double-strand break repair via homologous recombination (GO:0000724)	2.76397426
57	polyol catabolic process (GO:0046174)	2.73855838
58	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.73214269
59	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.72887844
60	recombinational repair (GO:0000725)	2.72258083
61	tryptophan metabolic process (GO:0006568)	2.72090353
62	rRNA modification (GO:0000154)	2.71838791
63	cellular response to ATP (GO:0071318)	2.71452437
64	protein-cofactor linkage (GO:0018065)	2.70922404
65	pseudouridine synthesis (GO:0001522)	2.70785692
66	negative regulation of response to food (GO:0032096)	2.70717946
67	negative regulation of appetite (GO:0032099)	2.70717946
68	multicellular organism reproduction (GO:0032504)	2.70025447
69	resolution of meiotic recombination intermediates (GO:0000712)	2.68092946
70	alkaloid metabolic process (GO:0009820)	2.66988371
71	mitochondrial calcium ion transport (GO:0006851)	2.65484642
72	synaptic transmission, cholinergic (GO:0007271)	2.64351109
73	respiratory chain complex IV assembly (GO:0008535)	2.62867697
74	inositol phosphate dephosphorylation (GO:0046855)	2.60687019
75	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.60687019
76	vitamin transmembrane transport (GO:0035461)	2.56266290
77	kidney morphogenesis (GO:0060993)	2.54898184
78	positive regulation of heart rate (GO:0010460)	2.54705085
79	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.54657862
80	positive regulation of organelle assembly (GO:1902117)	2.50890387
81	DNA methylation involved in gamete generation (GO:0043046)	2.50876753
82	glycerophospholipid catabolic process (GO:0046475)	2.49392817
83	negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)	2.49112572
84	inositol phosphate catabolic process (GO:0071545)	2.47352450
85	ATP biosynthetic process (GO:0006754)	2.47211263
86	drug catabolic process (GO:0042737)	2.47185872
87	male meiosis I (GO:0007141)	2.45278889
88	parturition (GO:0007567)	2.43905938
89	regulation of mesoderm development (GO:2000380)	2.43893556
90	DNA double-strand break processing (GO:0000729)	2.43680521
91	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.41907392
92	protein K6-linked ubiquitination (GO:0085020)	2.41038052
93	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.40663320
94	regulation of skeletal muscle contraction (GO:0014819)	2.38593530
95	negative regulation of T-helper cell differentiation (GO:0045623)	2.35933281
96	negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)	2.35933281
97	regulation of hexokinase activity (GO:1903299)	2.35626742
98	regulation of glucokinase activity (GO:0033131)	2.35626742
99	NAD biosynthetic process (GO:0009435)	2.35530029
100	fucosylation (GO:0036065)	2.35144365

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.75238168
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.04808659
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.95470232
4	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.84508795
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.57563504
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.42180971
7	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.25088617
8	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.23768849
9	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.22878253
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.19079352
11	EZH2_22144423_ChIP-Seq_EOC_Human	2.10685742
12	EWS_26573619_Chip-Seq_HEK293_Human	2.06069416
13	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.01704307
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.01304604
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.98739717
16	AR_21572438_ChIP-Seq_LNCaP_Human	1.95613810
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.88971545
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.88692819
19	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.86279610
20	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.85336538
21	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.84561329
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.79307998
23	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.78621257
24	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.77875840
25	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.77733903
26	P300_19829295_ChIP-Seq_ESCs_Human	1.75892072
27	IGF1R_20145208_ChIP-Seq_DFB_Human	1.73587300
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.71273866
29	BCAT_22108803_ChIP-Seq_LS180_Human	1.70545312
30	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.65673869
31	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.62455077
32	TAF15_26573619_Chip-Seq_HEK293_Human	1.60483193
33	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.59466764
34	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.58629747
35	MYC_18940864_ChIP-ChIP_HL60_Human	1.56432861
36	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.52411926
37	FUS_26573619_Chip-Seq_HEK293_Human	1.49296712
38	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.49027678
39	TCF4_23295773_ChIP-Seq_U87_Human	1.45680464
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.43899980
41	VDR_23849224_ChIP-Seq_CD4+_Human	1.39489864
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.39461899
43	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.37146870
44	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.36494750
45	RBPJ_21746931_ChIP-Seq_IB4_Human	1.34126986
46	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.32684594
47	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32395198
48	PHF8_20622853_ChIP-Seq_HELA_Human	1.31682070
49	NANOG_19829295_ChIP-Seq_ESCs_Human	1.31368493
50	SOX2_19829295_ChIP-Seq_ESCs_Human	1.31368493
51	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.30028689
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.28939317
53	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.28586583
54	STAT3_23295773_ChIP-Seq_U87_Human	1.27141831
55	ELK1_19687146_ChIP-ChIP_HELA_Human	1.26946965
56	HOXB7_26014856_ChIP-Seq_BT474_Human	1.26635770
57	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.25648552
58	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.24914033
59	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.24453761
60	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.24453761
61	AR_20517297_ChIP-Seq_VCAP_Human	1.24117831
62	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.22426701
63	TCF4_22108803_ChIP-Seq_LS180_Human	1.22002224
64	NFYB_21822215_ChIP-Seq_K562_Human	1.20350059
65	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.20103491
66	CBP_20019798_ChIP-Seq_JUKART_Human	1.20103491
67	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.20089351
68	CDX2_22108803_ChIP-Seq_LS180_Human	1.18645529
69	ETV1_20927104_ChIP-Seq_GIST48_Human	1.18273848
70	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.17815211
71	AR_25329375_ChIP-Seq_VCAP_Human	1.17268838
72	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.17092460
73	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.16959195
74	P53_22387025_ChIP-Seq_ESCs_Mouse	1.16159594
75	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.15587193
76	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.14304110
77	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.13979800
78	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.13127053
79	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.11678046
80	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.11227016
81	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.10926194
82	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.09555493
83	NFYA_21822215_ChIP-Seq_K562_Human	1.08900508
84	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.07936890
85	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.07775433
86	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.07353972
87	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.07304634
88	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.06116965
89	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.05815951
90	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.04206531
91	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.04202200
92	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.04049127
93	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.03887973
94	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.03811899
95	GATA3_26560356_Chip-Seq_TH2_Human	1.03638281
96	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.02518782
97	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.02508824
98	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.02508824
99	SMAD4_21799915_ChIP-Seq_A2780_Human	1.02148885
100	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.01885351

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005360_urolithiasis	3.13297091
2	MP0003646_muscle_fatigue	2.98195812
3	MP0004043_abnormal_pH_regulation	2.92722811
4	MP0000372_irregular_coat_pigmentation	2.92309083
5	MP0005646_abnormal_pituitary_gland	2.81345335
6	MP0004145_abnormal_muscle_electrophysio	2.61949952
7	MP0003693_abnormal_embryo_hatching	2.55322221
8	MP0003195_calcinosis	2.45318458
9	MP0005174_abnormal_tail_pigmentation	2.41061518
10	MP0008872_abnormal_physiological_respon	2.34833737
11	MP0006292_abnormal_olfactory_placode	2.15770080
12	MP0004885_abnormal_endolymph	2.13664286
13	MP0004142_abnormal_muscle_tone	2.10368034
14	MP0003806_abnormal_nucleotide_metabolis	2.08824331
15	MP0005551_abnormal_eye_electrophysiolog	2.08554199
16	MP0008875_abnormal_xenobiotic_pharmacok	2.07171807
17	MP0001986_abnormal_taste_sensitivity	1.99289288
18	MP0002837_dystrophic_cardiac_calcinosis	1.91686504
19	MP0003136_yellow_coat_color	1.87016839
20	MP0000015_abnormal_ear_pigmentation	1.85031721
21	MP0005645_abnormal_hypothalamus_physiol	1.78725850
22	MP0003718_maternal_effect	1.75853054
23	MP0002938_white_spotting	1.71081988
24	MP0008877_abnormal_DNA_methylation	1.64122399
25	MP0002095_abnormal_skin_pigmentation	1.63670100
26	MP0002102_abnormal_ear_morphology	1.59519043
27	MP0001984_abnormal_olfaction	1.56628767
28	MP0009745_abnormal_behavioral_response	1.50688231
29	MP0001968_abnormal_touch/_nociception	1.46636392
30	MP0004147_increased_porphyrin_level	1.46465297
31	MP0004215_abnormal_myocardial_fiber	1.44466184
32	MP0002160_abnormal_reproductive_system	1.43840696
33	MP0000427_abnormal_hair_cycle	1.42414981
34	MP0002736_abnormal_nociception_after	1.42397327
35	MP0006276_abnormal_autonomic_nervous	1.39719550
36	MP0000569_abnormal_digit_pigmentation	1.37528978
37	MP0002272_abnormal_nervous_system	1.36755299
38	MP0005671_abnormal_response_to	1.35363260
39	MP0002163_abnormal_gland_morphology	1.34292482
40	MP0002277_abnormal_respiratory_mucosa	1.34248254
41	MP0001905_abnormal_dopamine_level	1.34228373
42	MP0006036_abnormal_mitochondrial_physio	1.32890233
43	MP0001501_abnormal_sleep_pattern	1.26410117
44	MP0010329_abnormal_lipoprotein_level	1.24643412
45	MP0002733_abnormal_thermal_nociception	1.24176418
46	MP0005253_abnormal_eye_physiology	1.21900583
47	MP0005379_endocrine/exocrine_gland_phen	1.20139160
48	MP0001440_abnormal_grooming_behavior	1.19878498
49	MP0004742_abnormal_vestibular_system	1.19291985
50	MP0005085_abnormal_gallbladder_physiolo	1.18925584
51	MP0002876_abnormal_thyroid_physiology	1.18479943
52	MP0009046_muscle_twitch	1.16988946
53	MP0005389_reproductive_system_phenotype	1.16261523
54	MP0005075_abnormal_melanosome_morpholog	1.15619764
55	MP0001485_abnormal_pinna_reflex	1.14726941
56	MP0002138_abnormal_hepatobiliary_system	1.13457670
57	MP0006072_abnormal_retinal_apoptosis	1.13305345
58	MP0005332_abnormal_amino_acid	1.10441774
59	MP0003638_abnormal_response/metabolism_	1.08776243
60	MP0008058_abnormal_DNA_repair	1.06198379
61	MP0009379_abnormal_foot_pigmentation	1.04412858
62	MP0001764_abnormal_homeostasis	1.03453539
63	MP0001486_abnormal_startle_reflex	1.02853935
64	MP0001970_abnormal_pain_threshold	1.02761964
65	MP0003879_abnormal_hair_cell	1.02606691
66	MP0004381_abnormal_hair_follicle	1.01493057
67	MP0004085_abnormal_heartbeat	0.99736899
68	MP0000230_abnormal_systemic_arterial	0.98353856
69	MP0000470_abnormal_stomach_morphology	0.98112751
70	MP0000631_abnormal_neuroendocrine_gland	0.97526900
71	MP0004019_abnormal_vitamin_homeostasis	0.96779506
72	MP0002229_neurodegeneration	0.96638360
73	MP0003252_abnormal_bile_duct	0.93474974
74	MP0005408_hypopigmentation	0.92179732
75	MP0008775_abnormal_heart_ventricle	0.92107743
76	MP0001765_abnormal_ion_homeostasis	0.91573653
77	MP0005410_abnormal_fertilization	0.91455439
78	MP0000383_abnormal_hair_follicle	0.89724227
79	MP0005387_immune_system_phenotype	0.87811000
80	MP0001790_abnormal_immune_system	0.87811000
81	MP0003878_abnormal_ear_physiology	0.87410993
82	MP0005377_hearing/vestibular/ear_phenot	0.87410993
83	MP0002572_abnormal_emotion/affect_behav	0.87300113
84	MP0002928_abnormal_bile_duct	0.87052338
85	MP0001664_abnormal_digestion	0.86649552
86	MP0001293_anophthalmia	0.84881810
87	MP0003137_abnormal_impulse_conducting	0.84372263
88	MP0000013_abnormal_adipose_tissue	0.81688327
89	MP0000538_abnormal_urinary_bladder	0.80985573
90	MP0001873_stomach_inflammation	0.80854985
91	MP0005636_abnormal_mineral_homeostasis	0.80467460
92	MP0002067_abnormal_sensory_capabilities	0.80339189
93	MP0001666_abnormal_nutrient_absorption	0.79523003
94	MP0001963_abnormal_hearing_physiology	0.79344138
95	MP0002693_abnormal_pancreas_physiology	0.79253644
96	MP0002064_seizures	0.74583169
97	MP0001756_abnormal_urination	0.74110202
98	MP0001919_abnormal_reproductive_system	0.73594495
99	MP0002638_abnormal_pupillary_reflex	0.73280908
100	MP0003011_delayed_dark_adaptation	0.72602481

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Tongue fasciculations (HP:0001308)	4.12919471
2	Abnormality of the renal cortex (HP:0011035)	3.63380529
3	Muscle fibrillation (HP:0010546)	3.56157576
4	Pancreatic cysts (HP:0001737)	3.54254417
5	Abnormality of alanine metabolism (HP:0010916)	3.29628375
6	Hyperalaninemia (HP:0003348)	3.29628375
7	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.29628375
8	Pancreatic fibrosis (HP:0100732)	3.25205658
9	Type I transferrin isoform profile (HP:0003642)	3.16791695
10	Congenital stationary night blindness (HP:0007642)	3.14415563
11	Decreased central vision (HP:0007663)	3.12205625
12	Clumsiness (HP:0002312)	3.10081041
13	Congenital sensorineural hearing impairment (HP:0008527)	3.05152125
14	Abnormality of the renal medulla (HP:0100957)	2.95771876
15	Acute necrotizing encephalopathy (HP:0006965)	2.88637019
16	Nephronophthisis (HP:0000090)	2.85240726
17	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.83920813
18	Abnormal protein N-linked glycosylation (HP:0012347)	2.83920813
19	Abnormal protein glycosylation (HP:0012346)	2.83920813
20	Abnormal glycosylation (HP:0012345)	2.83920813
21	Pendular nystagmus (HP:0012043)	2.75677503
22	Renal cortical cysts (HP:0000803)	2.71701438
23	Reduced antithrombin III activity (HP:0001976)	2.68968867
24	Acute encephalopathy (HP:0006846)	2.63130457
25	Abolished electroretinogram (ERG) (HP:0000550)	2.61109784
26	Stomatitis (HP:0010280)	2.59150582
27	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.58999884
28	Abnormal drinking behavior (HP:0030082)	2.57648013
29	Polydipsia (HP:0001959)	2.57648013
30	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.55072792
31	Abnormality of midbrain morphology (HP:0002418)	2.54844279
32	Molar tooth sign on MRI (HP:0002419)	2.54844279
33	Progressive macrocephaly (HP:0004481)	2.46679521
34	Gaze-evoked nystagmus (HP:0000640)	2.42148614
35	Congenital, generalized hypertrichosis (HP:0004540)	2.41008736
36	Hypomagnesemia (HP:0002917)	2.36075841
37	Type II lissencephaly (HP:0007260)	2.35905916
38	Increased CSF lactate (HP:0002490)	2.34885950
39	Mitochondrial inheritance (HP:0001427)	2.32905263
40	3-Methylglutaconic aciduria (HP:0003535)	2.31982397
41	Abnormal mitochondria in muscle tissue (HP:0008316)	2.31552811
42	Inability to walk (HP:0002540)	2.29180239
43	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.27208571
44	Chronic hepatic failure (HP:0100626)	2.24286701
45	Medial flaring of the eyebrow (HP:0010747)	2.23852984
46	Azoospermia (HP:0000027)	2.23604380
47	Polyuria (HP:0000103)	2.20759043
48	Proximal tubulopathy (HP:0000114)	2.17793934
49	Attenuation of retinal blood vessels (HP:0007843)	2.16101129
50	Methylmalonic acidemia (HP:0002912)	2.14477838
51	Abnormal rod and cone electroretinograms (HP:0008323)	2.08891914
52	IgG deficiency (HP:0004315)	2.07816341
53	Adrenal hypoplasia (HP:0000835)	2.07434695
54	Hypoplasia of the pons (HP:0012110)	2.06865331
55	Methylmalonic aciduria (HP:0012120)	2.05962059
56	True hermaphroditism (HP:0010459)	2.04513988
57	Decreased circulating renin level (HP:0003351)	2.03383517
58	Cerebral edema (HP:0002181)	2.02804609
59	Abnormality of the pons (HP:0007361)	2.02339689
60	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.01702945
61	Neuroendocrine neoplasm (HP:0100634)	2.01385367
62	Asplenia (HP:0001746)	2.00617319
63	Metabolic alkalosis (HP:0200114)	1.99538338
64	Confusion (HP:0001289)	1.98703076
65	Arthropathy (HP:0003040)	1.97634668
66	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.97303684
67	Lethargy (HP:0001254)	1.95630716
68	Tubular atrophy (HP:0000092)	1.95100840
69	Increased corneal curvature (HP:0100692)	1.92444943
70	Keratoconus (HP:0000563)	1.92444943
71	Glycosuria (HP:0003076)	1.91775640
72	Abnormality of urine glucose concentration (HP:0011016)	1.91775640
73	Tetany (HP:0001281)	1.91671828
74	Hyperglycinuria (HP:0003108)	1.88955711
75	Abnormality of homocysteine metabolism (HP:0010919)	1.88374788
76	Homocystinuria (HP:0002156)	1.88374788
77	Abnormality of magnesium homeostasis (HP:0004921)	1.88281158
78	Increased serum lactate (HP:0002151)	1.87677962
79	Generalized aminoaciduria (HP:0002909)	1.87259355
80	Optic disc pallor (HP:0000543)	1.86490164
81	Genetic anticipation (HP:0003743)	1.85368229
82	Abnormal urine output (HP:0012590)	1.84490488
83	Abnormality of the labia minora (HP:0012880)	1.82560811
84	Chorioretinal atrophy (HP:0000533)	1.82035068
85	Meckel diverticulum (HP:0002245)	1.81903082
86	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.81713857
87	Absent thumb (HP:0009777)	1.80881080
88	Hypokalemic alkalosis (HP:0001949)	1.80839960
89	Abnormality of vitamin B metabolism (HP:0004340)	1.80733605
90	Abnormality of renin-angiotensin system (HP:0000847)	1.79306722
91	Abnormal spermatogenesis (HP:0008669)	1.79048203
92	Abnormality of the ileum (HP:0001549)	1.77152700
93	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.74065512
94	Increased cerebral lipofuscin (HP:0011813)	1.73488991
95	Abnormality of renal excretion (HP:0011036)	1.73004296
96	Abnormality of DNA repair (HP:0003254)	1.72315765
97	Lipid accumulation in hepatocytes (HP:0006561)	1.72074466
98	Sclerocornea (HP:0000647)	1.71796466
99	Ectopic kidney (HP:0000086)	1.70138052
100	Progressive inability to walk (HP:0002505)	1.69224468

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	5.36005593
2	FRK	4.52040835
3	EIF2AK3	3.20113279
4	TNIK	2.91261981
5	BMPR1B	2.85801382
6	ADRBK2	2.74701711
7	WNK4	2.62790598
8	TLK1	2.60485517
9	BLK	2.33360484
10	GRK1	2.25076313
11	MST4	2.19861660
12	VRK2	1.88422683
13	ACVR1B	1.87578187
14	INSRR	1.78318162
15	STK39	1.76995107
16	TXK	1.72679271
17	ZAK	1.69312588
18	MAPK15	1.66870078
19	TEC	1.66050010
20	WNK3	1.56346569
21	OXSR1	1.54767959
22	EIF2AK1	1.54677786
23	TIE1	1.48807429
24	DAPK2	1.39739396
25	PINK1	1.39169806
26	TAF1	1.37734688
27	PLK4	1.35680658
28	NME1	1.34127741
29	PHKG2	1.32423566
30	PHKG1	1.32423566
31	TNK2	1.23707363
32	STK3	1.22786265
33	ITK	1.12305624
34	NUAK1	1.09071191
35	IKBKB	1.05467870
36	STK16	0.92100578
37	EIF2AK2	0.90858848
38	SYK	0.88272126
39	CAMKK2	0.81251261
40	WEE1	0.80309505
41	OBSCN	0.78439572
42	ADRBK1	0.78042637
43	VRK1	0.75620239
44	TSSK6	0.75558484
45	NEK9	0.74401163
46	MAPKAPK3	0.74331921
47	CDC7	0.73610474
48	NLK	0.73222395
49	MAP4K2	0.70143491
50	MATK	0.69288255
51	PLK3	0.63190491
52	PRKCG	0.61132097
53	MAPKAPK5	0.60253142
54	PLK1	0.58095024
55	MAP2K6	0.58041487
56	NEK2	0.54347844
57	PRKCE	0.53342671
58	PTK2B	0.52739499
59	GRK5	0.51907272
60	PLK2	0.51470728
61	CAMK1	0.50672104
62	WNK1	0.50556591
63	BRSK2	0.48401335
64	IGF1R	0.48150806
65	SGK2	0.47644138
66	CAMK4	0.47627605
67	MAP4K1	0.47024783
68	GRK7	0.45631616
69	STK38L	0.45608694
70	MARK3	0.45437150
71	PRKAA2	0.44552729
72	CAMK2A	0.43957932
73	IKBKE	0.43134164
74	CAMK2D	0.42983529
75	TRPM7	0.42367666
76	CDK3	0.41530189
77	PNCK	0.41345031
78	ATR	0.41016001
79	CSNK1A1	0.40141756
80	PRKACA	0.39058989
81	AKT3	0.37392780
82	MKNK2	0.35526498
83	SGK1	0.35408536
84	PIK3CG	0.35045845
85	CHEK2	0.34207398
86	PAK3	0.33664131
87	FES	0.33607443
88	PRKCA	0.33566611
89	BTK	0.33321154
90	KIT	0.32700922
91	CAMK1G	0.32686450
92	PIK3CA	0.32005148
93	NTRK3	0.31987356
94	RPS6KA5	0.31075392
95	PRKG1	0.28867365
96	CHUK	0.28320761
97	LMTK2	0.28320607
98	CDK19	0.27518627
99	TGFBR1	0.26684779
100	STK4	0.26580126

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	2.89832044
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.70561821
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.60809863
4	Homologous recombination_Homo sapiens_hsa03440	2.56275665
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.49829435
6	Parkinsons disease_Homo sapiens_hsa05012	2.26149693
7	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.21007038
8	Vitamin digestion and absorption_Homo sapiens_hsa04977	2.03089185
9	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.02451977
10	One carbon pool by folate_Homo sapiens_hsa00670	1.98526684
11	Selenocompound metabolism_Homo sapiens_hsa00450	1.88475471
12	Nitrogen metabolism_Homo sapiens_hsa00910	1.82964177
13	Tryptophan metabolism_Homo sapiens_hsa00380	1.81279163
14	RNA degradation_Homo sapiens_hsa03018	1.79680543
15	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.73581374
16	RNA polymerase_Homo sapiens_hsa03020	1.71225939
17	Proteasome_Homo sapiens_hsa03050	1.71109024
18	Sulfur metabolism_Homo sapiens_hsa00920	1.69048059
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.63197462
20	Ether lipid metabolism_Homo sapiens_hsa00565	1.58629986
21	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.50955041
22	Asthma_Homo sapiens_hsa05310	1.50303570
23	Cardiac muscle contraction_Homo sapiens_hsa04260	1.50008724
24	Phototransduction_Homo sapiens_hsa04744	1.44942863
25	Alzheimers disease_Homo sapiens_hsa05010	1.44675877
26	Olfactory transduction_Homo sapiens_hsa04740	1.41444369
27	Huntingtons disease_Homo sapiens_hsa05016	1.41266465
28	Mismatch repair_Homo sapiens_hsa03430	1.37737966
29	Sulfur relay system_Homo sapiens_hsa04122	1.36633304
30	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.36493452
31	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.33596872
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.32916335
33	Basal transcription factors_Homo sapiens_hsa03022	1.30250657
34	Fat digestion and absorption_Homo sapiens_hsa04975	1.29907260
35	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.26738844
36	Protein export_Homo sapiens_hsa03060	1.24839532
37	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.23374870
38	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.21862856
39	Chemical carcinogenesis_Homo sapiens_hsa05204	1.19400499
40	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.18558711
41	Caffeine metabolism_Homo sapiens_hsa00232	1.18229960
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.15945043
43	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.13563154
44	Peroxisome_Homo sapiens_hsa04146	1.12487793
45	Propanoate metabolism_Homo sapiens_hsa00640	1.10485082
46	Purine metabolism_Homo sapiens_hsa00230	1.10377093
47	Retinol metabolism_Homo sapiens_hsa00830	1.07664570
48	Allograft rejection_Homo sapiens_hsa05330	1.07517627
49	Histidine metabolism_Homo sapiens_hsa00340	1.06251098
50	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.04498253
51	Morphine addiction_Homo sapiens_hsa05032	1.00824706
52	Fatty acid degradation_Homo sapiens_hsa00071	1.00240518
53	Serotonergic synapse_Homo sapiens_hsa04726	1.00137981
54	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.99203018
55	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.97686896
56	Butanoate metabolism_Homo sapiens_hsa00650	0.89490519
57	Taste transduction_Homo sapiens_hsa04742	0.89338383
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87493978
59	Glycerolipid metabolism_Homo sapiens_hsa00561	0.85726433
60	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.85486836
61	beta-Alanine metabolism_Homo sapiens_hsa00410	0.84637433
62	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.83585313
63	Mineral absorption_Homo sapiens_hsa04978	0.82919061
64	Nicotine addiction_Homo sapiens_hsa05033	0.82314076
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.81460494
66	Insulin secretion_Homo sapiens_hsa04911	0.79003217
67	Type I diabetes mellitus_Homo sapiens_hsa04940	0.73635512
68	RNA transport_Homo sapiens_hsa03013	0.70953002
69	Fatty acid metabolism_Homo sapiens_hsa01212	0.70930787
70	Fatty acid elongation_Homo sapiens_hsa00062	0.70150235
71	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.65046461
72	Metabolic pathways_Homo sapiens_hsa01100	0.64840840
73	Nucleotide excision repair_Homo sapiens_hsa03420	0.63574704
74	Circadian entrainment_Homo sapiens_hsa04713	0.63391344
75	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.62368780
76	Pyrimidine metabolism_Homo sapiens_hsa00240	0.61086213
77	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.60966475
78	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.59076146
79	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.57826386
80	Primary immunodeficiency_Homo sapiens_hsa05340	0.55919990
81	Renin-angiotensin system_Homo sapiens_hsa04614	0.54970390
82	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.54351956
83	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.54030465
84	ABC transporters_Homo sapiens_hsa02010	0.53687778
85	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.53605827
86	Glutamatergic synapse_Homo sapiens_hsa04724	0.52613690
87	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.51342008
88	Folate biosynthesis_Homo sapiens_hsa00790	0.50583135
89	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.50248656
90	Pancreatic secretion_Homo sapiens_hsa04972	0.49987576
91	Arginine and proline metabolism_Homo sapiens_hsa00330	0.48853929
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.48748745
93	DNA replication_Homo sapiens_hsa03030	0.48591069
94	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.48565610
95	Circadian rhythm_Homo sapiens_hsa04710	0.47609557
96	Regulation of autophagy_Homo sapiens_hsa04140	0.46523280
97	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.41423329
98	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.41210397
99	Salivary secretion_Homo sapiens_hsa04970	0.35684680
100	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.35276768

MTND5P12

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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