ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ATP synthesis coupled proton transport (GO:0015986)	5.73151907
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.73151907
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.64193353
4	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	5.34639573
5	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	5.34639573
6	protein neddylation (GO:0045116)	4.99104629
7	DNA deamination (GO:0045006)	4.88326759
8	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.22108577
9	negative regulation of heart rate (GO:0010459)	4.19188180
10	seminiferous tubule development (GO:0072520)	3.92396548
11	signal peptide processing (GO:0006465)	3.88899457
12	protein-cofactor linkage (GO:0018065)	3.88291984
13	cilium or flagellum-dependent cell motility (GO:0001539)	3.83056576
14	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.76497271
15	response to pheromone (GO:0019236)	3.75999351
16	cytidine metabolic process (GO:0046087)	3.73392866
17	cytidine catabolic process (GO:0006216)	3.73392866
18	cytidine deamination (GO:0009972)	3.73392866
19	behavioral response to nicotine (GO:0035095)	3.69069174
20	axonemal dynein complex assembly (GO:0070286)	3.65769337
21	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.64523754
22	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.63812754
23	electron transport chain (GO:0022900)	3.54425762
24	respiratory electron transport chain (GO:0022904)	3.53938889
25	chaperone-mediated protein transport (GO:0072321)	3.48281809
26	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.47962091
27	protein prenylation (GO:0018342)	3.46492753
28	prenylation (GO:0097354)	3.46492753
29	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.38064851
30	amino acid salvage (GO:0043102)	3.33448411
31	L-methionine salvage (GO:0071267)	3.33448411
32	L-methionine biosynthetic process (GO:0071265)	3.33448411
33	ATP biosynthetic process (GO:0006754)	3.29070590
34	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.29030704
35	fucose catabolic process (GO:0019317)	3.24764221
36	L-fucose metabolic process (GO:0042354)	3.24764221
37	L-fucose catabolic process (GO:0042355)	3.24764221
38	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.19318756
39	protein complex biogenesis (GO:0070271)	3.18930728
40	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.17058096
41	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.14865328
42	preassembly of GPI anchor in ER membrane (GO:0016254)	3.12257573
43	GPI anchor metabolic process (GO:0006505)	3.10221095
44	rRNA modification (GO:0000154)	3.07877771
45	hydrogen ion transmembrane transport (GO:1902600)	3.00951103
46	cysteine metabolic process (GO:0006534)	2.99272264
47	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.95476001
48	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.95476001
49	NADH dehydrogenase complex assembly (GO:0010257)	2.95476001
50	mitochondrial respiratory chain complex assembly (GO:0033108)	2.88685213
51	cellular response to interleukin-15 (GO:0071350)	2.88533083
52	GTP biosynthetic process (GO:0006183)	2.88437949
53	GPI anchor biosynthetic process (GO:0006506)	2.87761352
54	proton transport (GO:0015992)	2.83668112
55	branched-chain amino acid catabolic process (GO:0009083)	2.81570869
56	kynurenine metabolic process (GO:0070189)	2.80607971
57	rRNA methylation (GO:0031167)	2.80219066
58	ribosomal small subunit assembly (GO:0000028)	2.80100999
59	sulfur amino acid catabolic process (GO:0000098)	2.78885679
60	single strand break repair (GO:0000012)	2.78832626
61	hydrogen transport (GO:0006818)	2.78529780
62	tRNA processing (GO:0008033)	2.76740818
63	indole-containing compound catabolic process (GO:0042436)	2.75867851
64	indolalkylamine catabolic process (GO:0046218)	2.75867851
65	tryptophan catabolic process (GO:0006569)	2.75867851
66	water-soluble vitamin biosynthetic process (GO:0042364)	2.70719998
67	metallo-sulfur cluster assembly (GO:0031163)	2.69454496
68	iron-sulfur cluster assembly (GO:0016226)	2.69454496
69	protein peptidyl-prolyl isomerization (GO:0000413)	2.65154580
70	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.64714149
71	S-adenosylmethionine metabolic process (GO:0046500)	2.63825594
72	hindbrain development (GO:0030902)	2.62930607
73	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.59874769
74	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.58932311
75	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	2.57891968
76	positive regulation of defense response to virus by host (GO:0002230)	2.57410164
77	negative regulation of membrane potential (GO:0045837)	2.54709311
78	platelet dense granule organization (GO:0060155)	2.52910359
79	adenosine metabolic process (GO:0046085)	2.48717959
80	primary amino compound metabolic process (GO:1901160)	2.48715187
81	methionine biosynthetic process (GO:0009086)	2.48535821
82	piRNA metabolic process (GO:0034587)	2.48211372
83	pseudouridine synthesis (GO:0001522)	2.47550767
84	DNA demethylation (GO:0080111)	2.45990748
85	folic acid-containing compound biosynthetic process (GO:0009396)	2.45586759
86	cellular ketone body metabolic process (GO:0046950)	2.45032787
87	sulfur amino acid biosynthetic process (GO:0000097)	2.44243560
88	indolalkylamine metabolic process (GO:0006586)	2.43150495
89	respiratory chain complex IV assembly (GO:0008535)	2.42982681
90	negative regulation of mast cell activation (GO:0033004)	2.40925218
91	ribosomal large subunit biogenesis (GO:0042273)	2.39230676
92	branched-chain amino acid metabolic process (GO:0009081)	2.38736295
93	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.38333015
94	cytochrome complex assembly (GO:0017004)	2.38209252
95	tryptophan metabolic process (GO:0006568)	2.37497348
96	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.37448213
97	leukotriene biosynthetic process (GO:0019370)	2.37268855
98	DNA catabolic process, exonucleolytic (GO:0000738)	2.34133092
99	regulation of cellular amino acid metabolic process (GO:0006521)	2.33886398
100	positive regulation of prostaglandin secretion (GO:0032308)	2.32108841

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.50752781
2	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.69041354
3	VDR_22108803_ChIP-Seq_LS180_Human	3.42707866
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.42702762
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.74570690
6	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.66002327
7	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.59323260
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.47893216
9	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.43674803
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.43659542
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.42358941
12	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.32842486
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.32669495
14	EZH2_22144423_ChIP-Seq_EOC_Human	2.00301213
15	FUS_26573619_Chip-Seq_HEK293_Human	1.87378744
16	EWS_26573619_Chip-Seq_HEK293_Human	1.86576155
17	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.83054392
18	VDR_23849224_ChIP-Seq_CD4+_Human	1.82781386
19	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79846189
20	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.73642488
21	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.71868949
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.66582744
23	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.63038260
24	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.62218937
25	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.61858048
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.60826180
27	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.60245946
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.59379326
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.57450395
30	P300_19829295_ChIP-Seq_ESCs_Human	1.53215908
31	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.52789292
32	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.49586463
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.48944496
34	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.48619303
35	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.48619303
36	ER_23166858_ChIP-Seq_MCF-7_Human	1.47777407
37	NANOG_19829295_ChIP-Seq_ESCs_Human	1.45216036
38	SOX2_19829295_ChIP-Seq_ESCs_Human	1.45216036
39	IGF1R_20145208_ChIP-Seq_DFB_Human	1.41223236
40	FOXP3_21729870_ChIP-Seq_TREG_Human	1.40779986
41	GBX2_23144817_ChIP-Seq_PC3_Human	1.36345911
42	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36289973
43	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.35714544
44	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.35315484
45	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.33816740
46	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.33120857
47	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32490975
48	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.29142289
49	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.28327422
50	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.27243260
51	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.25584893
52	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25312944
53	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.22277587
54	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.21946719
55	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.21662418
56	CBP_20019798_ChIP-Seq_JUKART_Human	1.20935996
57	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.20935996
58	NCOR_22424771_ChIP-Seq_293T_Human	1.20298651
59	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.18797200
60	ELK1_19687146_ChIP-ChIP_HELA_Human	1.18612024
61	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.17874400
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.17755621
63	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.17567819
64	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16686140
65	NANOG_20526341_ChIP-Seq_ESCs_Human	1.16029057
66	AR_20517297_ChIP-Seq_VCAP_Human	1.15393467
67	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.15051026
68	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.14839005
69	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.13526516
70	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.12082122
71	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11961962
72	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.11265236
73	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.10484464
74	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.09935109
75	HOXB7_26014856_ChIP-Seq_BT474_Human	1.09784788
76	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.09771704
77	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.09384381
78	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.07339738
79	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.07091274
80	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.07053258
81	BCAT_22108803_ChIP-Seq_LS180_Human	1.06964870
82	GATA3_26560356_Chip-Seq_TH2_Human	1.06591660
83	ERG_20517297_ChIP-Seq_VCAP_Human	1.03397858
84	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.03267174
85	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.02853564
86	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.00883555
87	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.99805159
88	GATA3_26560356_Chip-Seq_TH1_Human	0.99586808
89	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.98750475
90	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.96938575
91	TAF2_19829295_ChIP-Seq_ESCs_Human	0.96493010
92	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.95994612
93	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.95192650
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.94365687
95	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.93953165
96	TCF4_22108803_ChIP-Seq_LS180_Human	0.92395665
97	RBPJ_21746931_ChIP-Seq_IB4_Human	0.91576960
98	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.91485236
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.90772326
100	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.90431141

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	3.59608055
2	MP0003787_abnormal_imprinting	2.96593547
3	MP0003724_increased_susceptibility_to	2.85074428
4	MP0005671_abnormal_response_to	2.62840081
5	MP0001968_abnormal_touch/_nociception	2.59798362
6	MP0009379_abnormal_foot_pigmentation	2.59270997
7	MP0004147_increased_porphyrin_level	2.56634621
8	MP0005646_abnormal_pituitary_gland	2.48929815
9	MP0008872_abnormal_physiological_respon	2.20414311
10	MP0008877_abnormal_DNA_methylation	2.09413863
11	MP0006292_abnormal_olfactory_placode	2.07604950
12	MP0002102_abnormal_ear_morphology	2.04932949
13	MP0002736_abnormal_nociception_after	2.01325227
14	MP0003878_abnormal_ear_physiology	1.93131353
15	MP0005377_hearing/vestibular/ear_phenot	1.93131353
16	MP0008995_early_reproductive_senescence	1.83047774
17	MP0001835_abnormal_antigen_presentation	1.81010610
18	MP0003195_calcinosis	1.78980361
19	MP0005551_abnormal_eye_electrophysiolog	1.74358394
20	MP0005645_abnormal_hypothalamus_physiol	1.72351931
21	MP0004885_abnormal_endolymph	1.72076616
22	MP0003866_abnormal_defecation	1.69532986
23	MP0002876_abnormal_thyroid_physiology	1.66060248
24	MP0003646_muscle_fatigue	1.61960831
25	MP0002735_abnormal_chemical_nociception	1.61338015
26	MP0003183_abnormal_peptide_metabolism	1.60144664
27	MP0004142_abnormal_muscle_tone	1.59605460
28	MP0002163_abnormal_gland_morphology	1.57204987
29	MP0001919_abnormal_reproductive_system	1.54340340
30	MP0003121_genomic_imprinting	1.54003887
31	MP0001800_abnormal_humoral_immune	1.46441389
32	MP0006072_abnormal_retinal_apoptosis	1.46333301
33	MP0008875_abnormal_xenobiotic_pharmacok	1.44502413
34	MP0004145_abnormal_muscle_electrophysio	1.42281632
35	MP0005389_reproductive_system_phenotype	1.40160765
36	MP0002272_abnormal_nervous_system	1.39673849
37	MP0002138_abnormal_hepatobiliary_system	1.37337428
38	MP0010386_abnormal_urinary_bladder	1.35913090
39	MP0002095_abnormal_skin_pigmentation	1.34717991
40	MP0009785_altered_susceptibility_to	1.34336249
41	MP0005085_abnormal_gallbladder_physiolo	1.34200923
42	MP0002733_abnormal_thermal_nociception	1.32098975
43	MP0009764_decreased_sensitivity_to	1.29543152
44	MP0002234_abnormal_pharynx_morphology	1.28730068
45	MP0005084_abnormal_gallbladder_morpholo	1.27901696
46	MP0002148_abnormal_hypersensitivity_rea	1.27340545
47	MP0005075_abnormal_melanosome_morpholog	1.25835883
48	MP0000372_irregular_coat_pigmentation	1.23274236
49	MP0006276_abnormal_autonomic_nervous	1.22914480
50	MP0001970_abnormal_pain_threshold	1.20865404
51	MP0005332_abnormal_amino_acid	1.20062320
52	MP0005187_abnormal_penis_morphology	1.19058458
53	MP0002938_white_spotting	1.15485064
54	MP0003011_delayed_dark_adaptation	1.14483044
55	MP0005000_abnormal_immune_tolerance	1.12546852
56	MP0001764_abnormal_homeostasis	1.12106291
57	MP0005360_urolithiasis	1.11492422
58	MP0000685_abnormal_immune_system	1.11013770
59	MP0002723_abnormal_immune_serum	1.10483416
60	MP0004043_abnormal_pH_regulation	1.07525352
61	MP0008775_abnormal_heart_ventricle	1.06900536
62	MP0001486_abnormal_startle_reflex	1.06248579
63	MP0008058_abnormal_DNA_repair	1.05363894
64	MP0005253_abnormal_eye_physiology	1.03837991
65	MP0003786_premature_aging	1.00860300
66	MP0009333_abnormal_splenocyte_physiolog	1.00474840
67	MP0001440_abnormal_grooming_behavior	0.99845838
68	MP0005174_abnormal_tail_pigmentation	0.99827104
69	MP0001905_abnormal_dopamine_level	0.98672347
70	MP0001501_abnormal_sleep_pattern	0.97051252
71	MP0001485_abnormal_pinna_reflex	0.97018012
72	MP0005636_abnormal_mineral_homeostasis	0.96555918
73	MP0006036_abnormal_mitochondrial_physio	0.95566748
74	MP0009745_abnormal_behavioral_response	0.95009793
75	MP0003252_abnormal_bile_duct	0.91480762
76	MP0004484_altered_response_of	0.90574372
77	MP0002452_abnormal_antigen_presenting	0.88966476
78	MP0001756_abnormal_urination	0.88513037
79	MP0010155_abnormal_intestine_physiology	0.87519138
80	MP0005379_endocrine/exocrine_gland_phen	0.87228730
81	MP0004924_abnormal_behavior	0.82318534
82	MP0005386_behavior/neurological_phenoty	0.82318534
83	MP0000427_abnormal_hair_cycle	0.81783541
84	MP0009046_muscle_twitch	0.80793327
85	MP0006035_abnormal_mitochondrial_morpho	0.80692875
86	MP0002160_abnormal_reproductive_system	0.80618923
87	MP0002420_abnormal_adaptive_immunity	0.80211251
88	MP0001819_abnormal_immune_cell	0.79234612
89	MP0003880_abnormal_central_pattern	0.78961252
90	MP0002837_dystrophic_cardiac_calcinosis	0.78688745
91	MP0001664_abnormal_digestion	0.76756293
92	MP0003122_maternal_imprinting	0.74056947
93	MP0001845_abnormal_inflammatory_respons	0.72827965
94	MP0001661_extended_life_span	0.71901103
95	MP0005220_abnormal_exocrine_pancreas	0.70012104
96	MP0003186_abnormal_redox_activity	0.69668331
97	MP0000631_abnormal_neuroendocrine_gland	0.69305777
98	MP0000689_abnormal_spleen_morphology	0.69232902
99	MP0005387_immune_system_phenotype	0.67217335
100	MP0001790_abnormal_immune_system	0.67217335

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	4.09810225
2	Abnormality of alanine metabolism (HP:0010916)	4.09810225
3	Hyperalaninemia (HP:0003348)	4.09810225
4	Chronic sinusitis (HP:0011109)	3.92945789
5	Chronic otitis media (HP:0000389)	3.84983243
6	Acute necrotizing encephalopathy (HP:0006965)	3.74043745
7	Mitochondrial inheritance (HP:0001427)	3.71110065
8	Abnormal respiratory motile cilium morphology (HP:0005938)	3.69475477
9	Abnormal respiratory epithelium morphology (HP:0012253)	3.69475477
10	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.58526948
11	Decreased central vision (HP:0007663)	3.55416558
12	Attenuation of retinal blood vessels (HP:0007843)	3.40121912
13	3-Methylglutaconic aciduria (HP:0003535)	3.34510308
14	Increased hepatocellular lipid droplets (HP:0006565)	3.33173850
15	Increased CSF lactate (HP:0002490)	3.26187022
16	Abnormal mitochondria in muscle tissue (HP:0008316)	3.21283501
17	Acute encephalopathy (HP:0006846)	3.20749115
18	Lipid accumulation in hepatocytes (HP:0006561)	3.17364523
19	Progressive macrocephaly (HP:0004481)	3.06385220
20	Pendular nystagmus (HP:0012043)	2.90329191
21	Abolished electroretinogram (ERG) (HP:0000550)	2.81695168
22	Constricted visual fields (HP:0001133)	2.81286363
23	Molar tooth sign on MRI (HP:0002419)	2.80229445
24	Abnormality of midbrain morphology (HP:0002418)	2.80229445
25	IgG deficiency (HP:0004315)	2.78915908
26	Abnormal rod and cone electroretinograms (HP:0008323)	2.78507720
27	Cerebral edema (HP:0002181)	2.76647242
28	Hepatocellular necrosis (HP:0001404)	2.76246110
29	Renal Fanconi syndrome (HP:0001994)	2.72679435
30	Optic disc pallor (HP:0000543)	2.63624313
31	Carpal bone hypoplasia (HP:0001498)	2.60742236
32	Nephronophthisis (HP:0000090)	2.59632900
33	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.59434646
34	True hermaphroditism (HP:0010459)	2.51571265
35	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.46234594
36	Congenital stationary night blindness (HP:0007642)	2.45956132
37	Hepatic necrosis (HP:0002605)	2.43348426
38	Increased intramyocellular lipid droplets (HP:0012240)	2.41870891
39	Pancreatic fibrosis (HP:0100732)	2.40455954
40	Abnormality of the labia minora (HP:0012880)	2.37972509
41	Pancreatic cysts (HP:0001737)	2.37500845
42	Lactic acidosis (HP:0003128)	2.36876815
43	Exertional dyspnea (HP:0002875)	2.36638391
44	Recurrent sinusitis (HP:0011108)	2.35277907
45	Broad-based gait (HP:0002136)	2.34340614
46	Increased serum lactate (HP:0002151)	2.32477832
47	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.32210291
48	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.32210291
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.27247687
50	Elevated erythrocyte sedimentation rate (HP:0003565)	2.26434965
51	Hyperphosphaturia (HP:0003109)	2.21496390
52	Aplastic anemia (HP:0001915)	2.20763513
53	Hypothermia (HP:0002045)	2.19834281
54	Increased corneal curvature (HP:0100692)	2.17795909
55	Keratoconus (HP:0000563)	2.17795909
56	Methylmalonic acidemia (HP:0002912)	2.14350335
57	Hyperglycinemia (HP:0002154)	2.14121470
58	Glycosuria (HP:0003076)	2.13291571
59	Abnormality of urine glucose concentration (HP:0011016)	2.13291571
60	Congenital sensorineural hearing impairment (HP:0008527)	2.12511800
61	Congenital, generalized hypertrichosis (HP:0004540)	2.11207942
62	Abnormality of serum amino acid levels (HP:0003112)	2.11021327
63	Lethargy (HP:0001254)	2.08439649
64	Chronic hepatic failure (HP:0100626)	2.05527759
65	Aplasia/hypoplasia of the uterus (HP:0008684)	2.04301576
66	Severe combined immunodeficiency (HP:0004430)	2.04060613
67	Absent/shortened dynein arms (HP:0200106)	2.02959258
68	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.02959258
69	Increased muscle lipid content (HP:0009058)	2.01941464
70	Cerebral hypomyelination (HP:0006808)	2.01098976
71	Agitation (HP:0000713)	2.00518971
72	Type 2 muscle fiber atrophy (HP:0003554)	1.94528276
73	Hypoproteinemia (HP:0003075)	1.93303190
74	Abnormality of the renal medulla (HP:0100957)	1.91927365
75	Abnormality of renal resorption (HP:0011038)	1.90121444
76	Oligomenorrhea (HP:0000876)	1.89651635
77	Abnormality of T cell number (HP:0011839)	1.87856038
78	Reticulocytopenia (HP:0001896)	1.86642567
79	Hypoplasia of the uterus (HP:0000013)	1.85126549
80	Renal cortical cysts (HP:0000803)	1.84977662
81	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.84595807
82	Medial flaring of the eyebrow (HP:0010747)	1.83393065
83	Sclerocornea (HP:0000647)	1.82448312
84	Dyskinesia (HP:0100660)	1.81741121
85	Anencephaly (HP:0002323)	1.81401304
86	Abnormality of the prostate (HP:0008775)	1.80636953
87	Methylmalonic aciduria (HP:0012120)	1.79143317
88	Hypomagnesemia (HP:0002917)	1.74816869
89	Gonadotropin excess (HP:0000837)	1.74455642
90	Abnormality of cells of the erythroid lineage (HP:0012130)	1.74450860
91	Abnormal urine phosphate concentration (HP:0012599)	1.74291464
92	T lymphocytopenia (HP:0005403)	1.73114679
93	Thyroid-stimulating hormone excess (HP:0002925)	1.73052687
94	Abnormality of glycine metabolism (HP:0010895)	1.72708682
95	Abnormality of serine family amino acid metabolism (HP:0010894)	1.72708682
96	CNS demyelination (HP:0007305)	1.69659990
97	Respiratory failure (HP:0002878)	1.68135582
98	Male pseudohermaphroditism (HP:0000037)	1.67976774
99	Stenosis of the external auditory canal (HP:0000402)	1.67237254
100	Exercise intolerance (HP:0003546)	1.65274500

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	3.71366297
2	ZAK	3.53583959
3	TXK	3.31483018
4	TLK1	2.93465241
5	CASK	2.63270241
6	MAP4K2	2.54659209
7	TIE1	2.42736967
8	BCKDK	2.38377753
9	ADRBK2	2.37577082
10	BMPR2	2.28624900
11	GRK1	2.21043025
12	TAOK3	2.14846249
13	FRK	2.14274443
14	NUAK1	1.67429984
15	BUB1	1.62750746
16	STK16	1.62151599
17	MAP4K1	1.60254326
18	TRIM28	1.53738280
19	OXSR1	1.47320086
20	CDK19	1.46556763
21	PLK4	1.45529943
22	BMPR1B	1.45027243
23	MAP3K12	1.44309720
24	ACVR1B	1.31773111
25	WNK4	1.29483001
26	TEC	1.26189229
27	WNK3	1.22245428
28	GRK6	1.21505654
29	KDR	1.18479649
30	MAP3K4	1.18071488
31	PLK2	1.11833214
32	DAPK2	1.10723453
33	MST4	1.07130976
34	DAPK1	1.05928825
35	RIPK4	1.04444400
36	FES	1.01169294
37	SYK	1.00455211
38	IKBKB	0.94638361
39	EIF2AK3	0.94006606
40	MKNK1	0.93935442
41	VRK2	0.92855533
42	DYRK2	0.92621243
43	PLK3	0.89899499
44	ADRBK1	0.88602172
45	CSF1R	0.88136506
46	TSSK6	0.85970067
47	VRK1	0.85427796
48	KIT	0.82754727
49	PHKG1	0.82246165
50	PHKG2	0.82246165
51	MAP3K11	0.81064407
52	ITK	0.79697947
53	TNIK	0.72681244
54	PIK3CA	0.71770844
55	RPS6KA5	0.70677596
56	PDK2	0.70018543
57	PRKCQ	0.69756898
58	CCNB1	0.69479790
59	JAK3	0.69423740
60	PIM1	0.69021680
61	PINK1	0.68512583
62	STK39	0.66122317
63	MYLK	0.65889065
64	PRKCE	0.64335441
65	EIF2AK2	0.63487046
66	ERBB3	0.60640417
67	IKBKE	0.55798770
68	DYRK3	0.53497753
69	MAP2K7	0.53249438
70	PRKCG	0.52846596
71	MAPKAPK5	0.52839265
72	NEK1	0.51194840
73	LCK	0.50783543
74	TAF1	0.49291286
75	CSNK1G2	0.49264177
76	LYN	0.49078327
77	MAP2K2	0.48004388
78	CDC7	0.45832252
79	OBSCN	0.44605599
80	PRKCA	0.44071310
81	BCR	0.43633072
82	PRKACA	0.43415939
83	MAP2K6	0.42925330
84	IGF1R	0.42092778
85	PLK1	0.41078581
86	CAMK2A	0.40995392
87	GRK5	0.40661430
88	BTK	0.40439004
89	WNK1	0.38180387
90	PASK	0.37968832
91	CSNK1G3	0.37698894
92	GRK7	0.37498888
93	DAPK3	0.36833446
94	MAPK13	0.34985797
95	MAP3K5	0.34295480
96	MINK1	0.33738595
97	PIM2	0.33473540
98	CSNK2A1	0.33322637
99	ATR	0.33041230
100	MATK	0.31883502

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.48078966
2	Proteasome_Homo sapiens_hsa03050	2.95176514
3	Asthma_Homo sapiens_hsa05310	2.77636155
4	Parkinsons disease_Homo sapiens_hsa05012	2.77269178
5	Graft-versus-host disease_Homo sapiens_hsa05332	2.51349059
6	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.33732752
7	Allograft rejection_Homo sapiens_hsa05330	2.31710338
8	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.27378020
9	Ribosome_Homo sapiens_hsa03010	2.26229521
10	One carbon pool by folate_Homo sapiens_hsa00670	2.19680522
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.14945339
12	RNA polymerase_Homo sapiens_hsa03020	2.14118573
13	Type I diabetes mellitus_Homo sapiens_hsa04940	2.10860416
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.87722869
15	Alzheimers disease_Homo sapiens_hsa05010	1.85905593
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.84366439
17	Primary immunodeficiency_Homo sapiens_hsa05340	1.79797567
18	Huntingtons disease_Homo sapiens_hsa05016	1.71926157
19	Linoleic acid metabolism_Homo sapiens_hsa00591	1.70457461
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.63028334
21	Rheumatoid arthritis_Homo sapiens_hsa05323	1.58532304
22	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.58334210
23	Homologous recombination_Homo sapiens_hsa03440	1.58191206
24	RNA degradation_Homo sapiens_hsa03018	1.56574135
25	Protein export_Homo sapiens_hsa03060	1.54554996
26	Cardiac muscle contraction_Homo sapiens_hsa04260	1.51332725
27	Nitrogen metabolism_Homo sapiens_hsa00910	1.48103283
28	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.47062162
29	Antigen processing and presentation_Homo sapiens_hsa04612	1.43841822
30	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.41240293
31	Nicotine addiction_Homo sapiens_hsa05033	1.39125397
32	Phototransduction_Homo sapiens_hsa04744	1.38526200
33	Butanoate metabolism_Homo sapiens_hsa00650	1.28961197
34	Propanoate metabolism_Homo sapiens_hsa00640	1.22708043
35	Collecting duct acid secretion_Homo sapiens_hsa04966	1.21033271
36	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.17975744
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.14668314
38	Peroxisome_Homo sapiens_hsa04146	1.11328850
39	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.10347691
40	Selenocompound metabolism_Homo sapiens_hsa00450	1.08661810
41	Caffeine metabolism_Homo sapiens_hsa00232	1.08617237
42	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.06947616
43	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.04659255
44	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.03352054
45	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.02485631
46	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.99691995
47	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.95916680
48	Taste transduction_Homo sapiens_hsa04742	0.95903580
49	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.95284563
50	Basal transcription factors_Homo sapiens_hsa03022	0.93488840
51	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.90737425
52	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.89600980
53	Fanconi anemia pathway_Homo sapiens_hsa03460	0.88881997
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.87087533
55	Retinol metabolism_Homo sapiens_hsa00830	0.83952705
56	Regulation of autophagy_Homo sapiens_hsa04140	0.83369323
57	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.81522258
58	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.79646252
59	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.79186103
60	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.78971296
61	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.76880555
62	Olfactory transduction_Homo sapiens_hsa04740	0.76678381
63	Ether lipid metabolism_Homo sapiens_hsa00565	0.76570839
64	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.76377074
65	Purine metabolism_Homo sapiens_hsa00230	0.74710896
66	Sulfur metabolism_Homo sapiens_hsa00920	0.71797199
67	Chemical carcinogenesis_Homo sapiens_hsa05204	0.69802143
68	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.69112296
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.68725298
70	Pyrimidine metabolism_Homo sapiens_hsa00240	0.68363418
71	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.67956594
72	Morphine addiction_Homo sapiens_hsa05032	0.64710321
73	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.64268549
74	Metabolic pathways_Homo sapiens_hsa01100	0.62164123
75	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.62106597
76	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.55346123
77	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.55230356
78	GABAergic synapse_Homo sapiens_hsa04727	0.55181199
79	Non-homologous end-joining_Homo sapiens_hsa03450	0.53801945
80	Nucleotide excision repair_Homo sapiens_hsa03420	0.53220047
81	Mismatch repair_Homo sapiens_hsa03430	0.52559394
82	Fat digestion and absorption_Homo sapiens_hsa04975	0.51708283
83	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.48901196
84	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.48347162
85	Sulfur relay system_Homo sapiens_hsa04122	0.47478792
86	Viral myocarditis_Homo sapiens_hsa05416	0.46975839
87	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.44276214
88	Fatty acid elongation_Homo sapiens_hsa00062	0.41710756
89	Serotonergic synapse_Homo sapiens_hsa04726	0.41236669
90	RNA transport_Homo sapiens_hsa03013	0.41027512
91	Leishmaniasis_Homo sapiens_hsa05140	0.40207834
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.40201769
93	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.39535916
94	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.37619002
95	Spliceosome_Homo sapiens_hsa03040	0.36827782
96	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.35512030
97	beta-Alanine metabolism_Homo sapiens_hsa00410	0.33280083
98	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.33104911
99	Fatty acid degradation_Homo sapiens_hsa00071	0.32537539
100	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.31212097

ATP5A1P3

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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