ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	8.45170332
2	regulation of retinoic acid receptor signaling pathway (GO:0048385)	6.94812175
3	chaperone-mediated protein transport (GO:0072321)	6.64171794
4	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	6.26849130
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.75727294
6	ATP synthesis coupled proton transport (GO:0015986)	5.75727294
7	proteasome assembly (GO:0043248)	5.74381523
8	DNA deamination (GO:0045006)	5.12160162
9	protein neddylation (GO:0045116)	4.79115173
10	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.67060869
11	respiratory electron transport chain (GO:0022904)	4.62671341
12	electron transport chain (GO:0022900)	4.52395769
13	regulation of chronic inflammatory response (GO:0002676)	4.32171652
14	base-excision repair, AP site formation (GO:0006285)	4.04473836
15	regulation of cellular amino acid metabolic process (GO:0006521)	3.96668863
16	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.85443143
17	protein complex biogenesis (GO:0070271)	3.82402606
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.79131117
19	platelet dense granule organization (GO:0060155)	3.78286647
20	GTP biosynthetic process (GO:0006183)	3.78208369
21	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.70972387
22	respiratory chain complex IV assembly (GO:0008535)	3.68929660
23	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.65711469
24	maturation of 5.8S rRNA (GO:0000460)	3.64526542
25	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	3.62932280
26	L-fucose catabolic process (GO:0042355)	3.61907566
27	fucose catabolic process (GO:0019317)	3.61907566
28	L-fucose metabolic process (GO:0042354)	3.61907566
29	detection of light stimulus involved in visual perception (GO:0050908)	3.56140563
30	detection of light stimulus involved in sensory perception (GO:0050962)	3.56140563
31	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.55973466
32	anterograde synaptic vesicle transport (GO:0048490)	3.54288923
33	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.49731739
34	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	3.48512903
35	protein maturation by protein folding (GO:0022417)	3.48423223
36	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.47795029
37	water-soluble vitamin biosynthetic process (GO:0042364)	3.47629361
38	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	3.46746051
39	mitochondrial respiratory chain complex assembly (GO:0033108)	3.43245012
40	regulation of helicase activity (GO:0051095)	3.36899583
41	cytidine deamination (GO:0009972)	3.36857829
42	cytidine metabolic process (GO:0046087)	3.36857829
43	cytidine catabolic process (GO:0006216)	3.36857829
44	hydrogen ion transmembrane transport (GO:1902600)	3.35181676
45	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	3.34976754
46	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	3.34976754
47	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	3.34751253
48	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	3.34751253
49	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	3.34751253
50	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.34029743
51	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.34029743
52	NADH dehydrogenase complex assembly (GO:0010257)	3.34029743
53	rRNA modification (GO:0000154)	3.30678802
54	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.30561245
55	protein deneddylation (GO:0000338)	3.27586636
56	terpenoid biosynthetic process (GO:0016114)	3.25355247
57	negative regulation of ligase activity (GO:0051352)	3.23785646
58	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	3.23785646
59	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	3.23627091
60	rRNA methylation (GO:0031167)	3.20587042
61	positive regulation of ligase activity (GO:0051351)	3.19438679
62	signal transduction involved in DNA integrity checkpoint (GO:0072401)	3.18421978
63	signal transduction involved in DNA damage checkpoint (GO:0072422)	3.18421978
64	proton transport (GO:0015992)	3.16129514
65	ATP biosynthetic process (GO:0006754)	3.15514785
66	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	3.15419402
67	signal transduction involved in cell cycle checkpoint (GO:0072395)	3.14152984
68	cullin deneddylation (GO:0010388)	3.12265702
69	UTP biosynthetic process (GO:0006228)	3.11917680
70	hydrogen transport (GO:0006818)	3.08481589
71	positive regulation of prostaglandin secretion (GO:0032308)	3.00701223
72	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:	3.00261155
73	regulation of mitotic spindle checkpoint (GO:1903504)	3.00235273
74	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.00235273
75	oxidative phosphorylation (GO:0006119)	2.99883138
76	aldehyde catabolic process (GO:0046185)	2.97084573
77	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.94929295
78	termination of RNA polymerase III transcription (GO:0006386)	2.94929295
79	protein targeting to mitochondrion (GO:0006626)	2.92553558
80	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2.90327469
81	signal peptide processing (GO:0006465)	2.88403093
82	positive regulation of humoral immune response (GO:0002922)	2.87622188
83	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)	2.83872345
84	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.82585412
85	positive regulation of inflammatory response to antigenic stimulus (GO:0002863)	2.82538477
86	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.81652162
87	regulation of cellular amine metabolic process (GO:0033238)	2.80317072
88	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)	2.80214402
89	cytochrome complex assembly (GO:0017004)	2.79299354
90	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.77763210
91	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	2.74883998
92	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.74070869
93	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.74070869
94	regulation of ligase activity (GO:0051340)	2.72249224
95	nucleoside triphosphate biosynthetic process (GO:0009142)	2.70519384
96	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.70331344
97	negative regulation of signal transduction by p53 class mediator (GO:1901797)	2.69113286
98	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.68648277
99	establishment of protein localization to mitochondrion (GO:0072655)	2.68261682
100	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.67699584

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	5.52290537
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.78583601
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	4.54855901
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	4.05082285
5	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	3.50768801
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.22532024
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.12771054
8	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.09943821
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.05706549
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.92080808
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.53171781
12	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.52992254
13	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.46204031
14	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.38881066
15	FOXP3_21729870_ChIP-Seq_TREG_Human	2.27210165
16	ELK1_19687146_ChIP-ChIP_HELA_Human	2.26639027
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.13580807
18	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.99284145
19	ZNF274_21170338_ChIP-Seq_K562_Hela	1.93821720
20	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.80680377
21	EWS_26573619_Chip-Seq_HEK293_Human	1.75202066
22	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.70828421
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.70570684
24	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.66400453
25	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.62230218
26	VDR_22108803_ChIP-Seq_LS180_Human	1.61488819
27	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.57953958
28	IGF1R_20145208_ChIP-Seq_DFB_Human	1.54534806
29	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.54521565
30	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.53849165
31	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.52568711
32	P300_19829295_ChIP-Seq_ESCs_Human	1.49716900
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.48724482
34	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.48312395
35	TP53_22573176_ChIP-Seq_HFKS_Human	1.47994879
36	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.47931247
37	GABP_19822575_ChIP-Seq_HepG2_Human	1.47753976
38	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.47547566
39	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.44428452
40	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.43367569
41	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.38707348
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.38289625
43	NANOG_19829295_ChIP-Seq_ESCs_Human	1.37823163
44	SOX2_19829295_ChIP-Seq_ESCs_Human	1.37823163
45	GBX2_23144817_ChIP-Seq_PC3_Human	1.36313501
46	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.35251193
47	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.30965376
48	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.30759702
49	TTF2_22483619_ChIP-Seq_HELA_Human	1.29243449
50	MYC_19829295_ChIP-Seq_ESCs_Human	1.29211621
51	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.26548634
52	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.26393273
53	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.26167225
54	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.26167225
55	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.23041888
56	FUS_26573619_Chip-Seq_HEK293_Human	1.22215095
57	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.22000762
58	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.20311635
59	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.18440410
60	PHF8_20622853_ChIP-Seq_HELA_Human	1.18172847
61	DCP1A_22483619_ChIP-Seq_HELA_Human	1.17875270
62	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.16214769
63	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.16007339
64	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.14405584
65	HTT_18923047_ChIP-ChIP_STHdh_Human	1.13048622
66	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.11021695
67	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.10672710
68	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.10583267
69	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.09233503
70	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.08815172
71	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.06286269
72	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.05984001
73	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.05335031
74	RBPJ_21746931_ChIP-Seq_IB4_Human	1.04762374
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.03418618
76	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.02330645
77	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.01972446
78	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.01808370
79	AR_20517297_ChIP-Seq_VCAP_Human	1.01589985
80	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.00605509
81	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00165024
82	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.99406966
83	NCOR_22424771_ChIP-Seq_293T_Human	0.97671915
84	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	0.96979460
85	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.96128330
86	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.95001170
87	GATA3_26560356_Chip-Seq_TH2_Human	0.93426809
88	CBP_20019798_ChIP-Seq_JUKART_Human	0.92116429
89	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.92116429
90	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.91884104
91	ETV1_20927104_ChIP-Seq_GIST48_Human	0.91515425
92	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.91456973
93	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.91084518
94	HOXB7_26014856_ChIP-Seq_BT474_Human	0.90828162
95	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.90812767
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.90438199
97	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.90109951
98	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.89775153
99	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.89154615
100	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.87974202

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006054_spinal_hemorrhage	3.87129138
2	MP0003806_abnormal_nucleotide_metabolis	3.63681660
3	MP0008058_abnormal_DNA_repair	2.86595986
4	MP0003195_calcinosis	2.81475019
5	MP0003283_abnormal_digestive_organ	2.67295828
6	MP0005367_renal/urinary_system_phenotyp	2.62018012
7	MP0000516_abnormal_urinary_system	2.62018012
8	MP0001529_abnormal_vocalization	2.53297145
9	MP0005671_abnormal_response_to	2.46208361
10	MP0003122_maternal_imprinting	2.41207083
11	MP0005377_hearing/vestibular/ear_phenot	2.40156195
12	MP0003878_abnormal_ear_physiology	2.40156195
13	MP0002102_abnormal_ear_morphology	2.38652559
14	MP0008877_abnormal_DNA_methylation	2.26398737
15	MP0001486_abnormal_startle_reflex	2.16538444
16	MP0001485_abnormal_pinna_reflex	2.16469580
17	MP0006036_abnormal_mitochondrial_physio	2.12011440
18	MP0008057_abnormal_DNA_replication	1.96566253
19	MP0003646_muscle_fatigue	1.92902049
20	MP0001501_abnormal_sleep_pattern	1.89485742
21	MP0004742_abnormal_vestibular_system	1.88295072
22	MP0005551_abnormal_eye_electrophysiolog	1.85271716
23	MP0002090_abnormal_vision	1.85099416
24	MP0001727_abnormal_embryo_implantation	1.77397838
25	MP0003121_genomic_imprinting	1.76303768
26	MP0004142_abnormal_muscle_tone	1.73382029
27	MP0001986_abnormal_taste_sensitivity	1.70881960
28	MP0000372_irregular_coat_pigmentation	1.68764833
29	MP0006072_abnormal_retinal_apoptosis	1.66958368
30	MP0003787_abnormal_imprinting	1.65448953
31	MP0004885_abnormal_endolymph	1.61913030
32	MP0008872_abnormal_physiological_respon	1.58978426
33	MP0002876_abnormal_thyroid_physiology	1.56992763
34	MP0001440_abnormal_grooming_behavior	1.54218006
35	MP0003186_abnormal_redox_activity	1.53259010
36	MP0003011_delayed_dark_adaptation	1.52520734
37	MP0005389_reproductive_system_phenotype	1.49089939
38	MP0001919_abnormal_reproductive_system	1.48531992
39	MP0003718_maternal_effect	1.48301949
40	MP0002272_abnormal_nervous_system	1.45833493
41	MP0009785_altered_susceptibility_to	1.36284506
42	MP0005423_abnormal_somatic_nervous	1.35969036
43	MP0006082_CNS_inflammation	1.30956376
44	MP0005253_abnormal_eye_physiology	1.29482051
45	MP0005332_abnormal_amino_acid	1.29059779
46	MP0009046_muscle_twitch	1.26371138
47	MP0006292_abnormal_olfactory_placode	1.24302041
48	MP0004147_increased_porphyrin_level	1.23442382
49	MP0001905_abnormal_dopamine_level	1.21502318
50	MP0000569_abnormal_digit_pigmentation	1.19884908
51	MP0003786_premature_aging	1.18659942
52	MP0009780_abnormal_chondrocyte_physiolo	1.17403470
53	MP0006276_abnormal_autonomic_nervous	1.17169963
54	MP0002254_reproductive_system_inflammat	1.17111946
55	MP0005386_behavior/neurological_phenoty	1.10936648
56	MP0004924_abnormal_behavior	1.10936648
57	MP0002160_abnormal_reproductive_system	1.10194599
58	MP0003880_abnormal_central_pattern	1.09663609
59	MP0005645_abnormal_hypothalamus_physiol	1.09255398
60	MP0001756_abnormal_urination	1.02070430
61	MP0005085_abnormal_gallbladder_physiolo	1.01531591
62	MP0002938_white_spotting	1.01075230
63	MP0008875_abnormal_xenobiotic_pharmacok	1.00267118
64	MP0002837_dystrophic_cardiac_calcinosis	0.99775791
65	MP0003252_abnormal_bile_duct	0.99558343
66	MP0002909_abnormal_adrenal_gland	0.98133209
67	MP0005075_abnormal_melanosome_morpholog	0.97583618
68	MP0005220_abnormal_exocrine_pancreas	0.93668200
69	MP0005636_abnormal_mineral_homeostasis	0.93152421
70	MP0004019_abnormal_vitamin_homeostasis	0.92852321
71	MP0000427_abnormal_hair_cycle	0.92809350
72	MP0010386_abnormal_urinary_bladder	0.90202375
73	MP0002734_abnormal_mechanical_nocicepti	0.88808212
74	MP0002234_abnormal_pharynx_morphology	0.88034976
75	MP0009745_abnormal_behavioral_response	0.86706683
76	MP0002557_abnormal_social/conspecific_i	0.86453549
77	MP0005646_abnormal_pituitary_gland	0.85620010
78	MP0002067_abnormal_sensory_capabilities	0.85314224
79	MP0001873_stomach_inflammation	0.83268459
80	MP0005266_abnormal_metabolism	0.78762053
81	MP0001835_abnormal_antigen_presentation	0.77961281
82	MP0000685_abnormal_immune_system	0.77440466
83	MP0010094_abnormal_chromosome_stability	0.74904241
84	MP0001929_abnormal_gametogenesis	0.74794096
85	MP0002736_abnormal_nociception_after	0.74436599
86	MP0009643_abnormal_urine_homeostasis	0.72615085
87	MP0004215_abnormal_myocardial_fiber	0.72306812
88	MP0003879_abnormal_hair_cell	0.72306040
89	MP0005408_hypopigmentation	0.71648334
90	MP0002184_abnormal_innervation	0.70535760
91	MP0009764_decreased_sensitivity_to	0.69126709
92	MP0001963_abnormal_hearing_physiology	0.68808776
93	MP0002064_seizures	0.68439835
94	MP0002138_abnormal_hepatobiliary_system	0.65038261
95	MP0002572_abnormal_emotion/affect_behav	0.64596094
96	MP0001502_abnormal_circadian_rhythm	0.63991255
97	MP0005187_abnormal_penis_morphology	0.63927555
98	MP0003111_abnormal_nucleus_morphology	0.63231708
99	MP0000647_abnormal_sebaceous_gland	0.63071310
100	MP0004270_analgesia	0.62973190

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.83508747
2	Acute encephalopathy (HP:0006846)	5.40753434
3	Abnormal mitochondria in muscle tissue (HP:0008316)	5.18538873
4	Progressive macrocephaly (HP:0004481)	5.17448498
5	Hepatocellular necrosis (HP:0001404)	4.85895427
6	Mitochondrial inheritance (HP:0001427)	4.64005399
7	Hepatic necrosis (HP:0002605)	4.32293553
8	Increased CSF lactate (HP:0002490)	4.19797478
9	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	4.17671396
10	Decreased activity of mitochondrial respiratory chain (HP:0008972)	4.17671396
11	Increased hepatocellular lipid droplets (HP:0006565)	3.97357023
12	Cerebral edema (HP:0002181)	3.77320999
13	Lipid accumulation in hepatocytes (HP:0006561)	3.76360807
14	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.69623373
15	Renal Fanconi syndrome (HP:0001994)	3.67240274
16	Hypothermia (HP:0002045)	3.58611772
17	Type I transferrin isoform profile (HP:0003642)	3.54188606
18	Optic disc pallor (HP:0000543)	3.46157612
19	3-Methylglutaconic aciduria (HP:0003535)	3.29078472
20	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	3.15497922
21	Hypomagnesemia (HP:0002917)	3.03285922
22	Polyphagia (HP:0002591)	2.90154980
23	Respiratory failure (HP:0002878)	2.88760906
24	Leukodystrophy (HP:0002415)	2.87440636
25	Increased serum lactate (HP:0002151)	2.85728929
26	Abnormality of magnesium homeostasis (HP:0004921)	2.85325580
27	Exertional dyspnea (HP:0002875)	2.80481321
28	Aplasia/hypoplasia of the uterus (HP:0008684)	2.75020551
29	Increased intramyocellular lipid droplets (HP:0012240)	2.63623921
30	Increased serum pyruvate (HP:0003542)	2.62559407
31	Lactic acidosis (HP:0003128)	2.62360732
32	Reduced antithrombin III activity (HP:0001976)	2.59922309
33	Abnormality of the labia minora (HP:0012880)	2.59236021
34	Exercise intolerance (HP:0003546)	2.58506080
35	Delayed CNS myelination (HP:0002188)	2.56636302
36	Abnormality of renal resorption (HP:0011038)	2.55658361
37	Short chin (HP:0000331)	2.55499916
38	Lethargy (HP:0001254)	2.51786011
39	Congenital, generalized hypertrichosis (HP:0004540)	2.48201051
40	Methylmalonic aciduria (HP:0012120)	2.42191351
41	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.37861893
42	Abnormal protein N-linked glycosylation (HP:0012347)	2.37861893
43	Abnormal protein glycosylation (HP:0012346)	2.37861893
44	Abnormal glycosylation (HP:0012345)	2.37861893
45	Methylmalonic acidemia (HP:0002912)	2.35418840
46	Abnormality of glycolysis (HP:0004366)	2.28023953
47	Progressive inability to walk (HP:0002505)	2.27711389
48	Pancreatic cysts (HP:0001737)	2.26896972
49	CNS demyelination (HP:0007305)	2.25465033
50	Molar tooth sign on MRI (HP:0002419)	2.24034047
51	Abnormality of midbrain morphology (HP:0002418)	2.24034047
52	Abnormality of placental membranes (HP:0011409)	2.20060175
53	Amniotic constriction ring (HP:0009775)	2.20060175
54	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.17711020
55	Increased muscle lipid content (HP:0009058)	2.16730689
56	X-linked dominant inheritance (HP:0001423)	2.16224447
57	Poor suck (HP:0002033)	2.15699031
58	Hypoplasia of the fovea (HP:0007750)	2.12978062
59	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.12978062
60	Hypergonadotropic hypogonadism (HP:0000815)	2.12227646
61	Sensory axonal neuropathy (HP:0003390)	2.07732837
62	Hyperglycinemia (HP:0002154)	2.07540335
63	Hyperphosphaturia (HP:0003109)	2.03990159
64	Glycosuria (HP:0003076)	2.03151441
65	Abnormality of urine glucose concentration (HP:0011016)	2.03151441
66	Meckel diverticulum (HP:0002245)	2.01559178
67	Congenital stationary night blindness (HP:0007642)	1.99733279
68	Dry hair (HP:0011359)	1.97485603
69	Emotional lability (HP:0000712)	1.95935874
70	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.93972412
71	Respiratory difficulties (HP:0002880)	1.91455634
72	Failure to thrive in infancy (HP:0001531)	1.87639174
73	True hermaphroditism (HP:0010459)	1.87555307
74	Hyperinsulinemic hypoglycemia (HP:0000825)	1.86856355
75	Stomatitis (HP:0010280)	1.86005293
76	Abnormality of the ileum (HP:0001549)	1.83983094
77	Oligomenorrhea (HP:0000876)	1.82864665
78	Sclerocornea (HP:0000647)	1.82342204
79	Tetany (HP:0001281)	1.81033620
80	Palpitations (HP:0001962)	1.75749479
81	Absent thumb (HP:0009777)	1.74646015
82	Medial flaring of the eyebrow (HP:0010747)	1.73968853
83	Adrenal hypoplasia (HP:0000835)	1.72648175
84	Blindness (HP:0000618)	1.72370500
85	Delayed puberty (HP:0000823)	1.71626076
86	Inability to walk (HP:0002540)	1.70204053
87	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.69985597
88	Male pseudohermaphroditism (HP:0000037)	1.69319507
89	Congenital ichthyosiform erythroderma (HP:0007431)	1.69187937
90	Abnormality of the fovea (HP:0000493)	1.69148472
91	Febrile seizures (HP:0002373)	1.68371818
92	Epileptic encephalopathy (HP:0200134)	1.67437869
93	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.66554137
94	Congenital malformation of the right heart (HP:0011723)	1.63931124
95	Double outlet right ventricle (HP:0001719)	1.63931124
96	Limb hypertonia (HP:0002509)	1.63160116
97	Vomiting (HP:0002013)	1.62849542
98	Abnormality of the preputium (HP:0100587)	1.61821196
99	Abnormal urine phosphate concentration (HP:0012599)	1.61065753
100	Abnormal eating behavior (HP:0100738)	1.59866877

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MST4	4.57926578
2	TRIM28	3.49610817
3	WNK3	3.19959958
4	MAP3K12	3.14049713
5	SRPK1	2.64464620
6	TXK	2.41966901
7	BUB1	2.40995604
8	FRK	2.05407818
9	DYRK3	2.00727399
10	EIF2AK2	1.82229228
11	WEE1	1.80706578
12	VRK2	1.73284405
13	BMPR2	1.70217453
14	TNIK	1.62947874
15	STK38L	1.61654467
16	STK16	1.60077303
17	MAPKAPK3	1.56021832
18	EPHA4	1.53300740
19	ACVR1B	1.53161901
20	EIF2AK3	1.47591698
21	BMPR1B	1.46079818
22	PLK3	1.42456743
23	ERBB3	1.42187961
24	INSRR	1.40149046
25	SCYL2	1.36245997
26	MAP4K1	1.34726411
27	TAF1	1.34403212
28	ILK	1.30732222
29	TAOK3	1.27822137
30	GRK1	1.24811492
31	ZAK	1.24638934
32	DAPK1	1.21652868
33	CSNK1G3	1.21268763
34	PINK1	1.16453120
35	EIF2AK1	1.14369878
36	MYLK	1.14019756
37	CSNK1G2	1.13358685
38	PLK2	1.13153626
39	CSNK1G1	1.12093577
40	NUAK1	1.09086897
41	NME1	1.06527546
42	PBK	1.03209386
43	WNK4	1.02197655
44	TSSK6	0.98530658
45	ALK	0.95311158
46	NLK	0.94086267
47	OXSR1	0.93519970
48	STK39	0.93425664
49	NME2	0.91229883
50	CSNK1A1L	0.91084540
51	MAP3K4	0.87603819
52	PLK4	0.84344196
53	MAP2K7	0.82129106
54	PASK	0.79754497
55	GRK5	0.77669866
56	GRK6	0.77484661
57	BRSK1	0.73584970
58	SIK2	0.72749411
59	PLK1	0.70930545
60	PRKCE	0.70751624
61	ADRBK2	0.70316138
62	BRSK2	0.70236781
63	PIK3CA	0.67182608
64	MAPK13	0.67108211
65	PRKCG	0.66042208
66	MAP4K2	0.64928575
67	CSNK2A2	0.63859759
68	DYRK2	0.62611820
69	PRKCI	0.60383595
70	PAK4	0.60086626
71	CSNK2A1	0.59619398
72	MARK3	0.59581038
73	AURKB	0.58205370
74	DAPK3	0.58143176
75	PAK6	0.57625191
76	VRK1	0.55731716
77	STK24	0.51442590
78	IGF1R	0.49515624
79	CDK3	0.49408027
80	DYRK1A	0.45555221
81	ADRBK1	0.43817206
82	TLK1	0.43646151
83	PAK1	0.43594449
84	TIE1	0.43290384
85	GRK7	0.42402969
86	SYK	0.42219407
87	CAMK2D	0.41196322
88	FGFR1	0.40870684
89	PAK3	0.40316268
90	PHKG2	0.39555223
91	PHKG1	0.39555223
92	CAMK2A	0.39165354
93	CSNK1A1	0.38326736
94	PRKG1	0.37781261
95	PDK2	0.36591462
96	PRKCA	0.36236485
97	SIK3	0.35897691
98	TGFBR2	0.34433506
99	NEK1	0.33824937
100	PRKACA	0.32724121

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	4.57108012
2	Oxidative phosphorylation_Homo sapiens_hsa00190	4.29088016
3	Parkinsons disease_Homo sapiens_hsa05012	3.57519519
4	Protein export_Homo sapiens_hsa03060	2.78832560
5	Alzheimers disease_Homo sapiens_hsa05010	2.60710251
6	Huntingtons disease_Homo sapiens_hsa05016	2.57775075
7	Cardiac muscle contraction_Homo sapiens_hsa04260	2.39373542
8	Folate biosynthesis_Homo sapiens_hsa00790	2.33661981
9	Asthma_Homo sapiens_hsa05310	2.32403726
10	RNA polymerase_Homo sapiens_hsa03020	2.28442705
11	Ribosome_Homo sapiens_hsa03010	2.15132253
12	Graft-versus-host disease_Homo sapiens_hsa05332	2.05538795
13	Regulation of autophagy_Homo sapiens_hsa04140	2.05536578
14	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.01662281
15	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.01448402
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.97608011
17	Basal transcription factors_Homo sapiens_hsa03022	1.93223706
18	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.75638483
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.67345713
20	Propanoate metabolism_Homo sapiens_hsa00640	1.65645454
21	Type I diabetes mellitus_Homo sapiens_hsa04940	1.61840045
22	RNA degradation_Homo sapiens_hsa03018	1.60394924
23	Collecting duct acid secretion_Homo sapiens_hsa04966	1.36521596
24	Allograft rejection_Homo sapiens_hsa05330	1.32190039
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.29846921
26	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.23865714
27	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.17674312
28	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.16174745
29	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.11204963
30	Antigen processing and presentation_Homo sapiens_hsa04612	1.08319172
31	Phototransduction_Homo sapiens_hsa04744	1.07709813
32	Rheumatoid arthritis_Homo sapiens_hsa05323	1.06047189
33	Nucleotide excision repair_Homo sapiens_hsa03420	1.04473483
34	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.04268486
35	Sulfur metabolism_Homo sapiens_hsa00920	1.00841556
36	Butanoate metabolism_Homo sapiens_hsa00650	1.00720503
37	Sulfur relay system_Homo sapiens_hsa04122	1.00413451
38	Pyrimidine metabolism_Homo sapiens_hsa00240	0.99182016
39	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.98430756
40	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.93791137
41	Mismatch repair_Homo sapiens_hsa03430	0.91780069
42	Homologous recombination_Homo sapiens_hsa03440	0.91744683
43	Tryptophan metabolism_Homo sapiens_hsa00380	0.91175514
44	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.90955417
45	One carbon pool by folate_Homo sapiens_hsa00670	0.88523959
46	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.88436303
47	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.85930282
48	Fanconi anemia pathway_Homo sapiens_hsa03460	0.84212008
49	Spliceosome_Homo sapiens_hsa03040	0.83640825
50	Non-homologous end-joining_Homo sapiens_hsa03450	0.83626548
51	Base excision repair_Homo sapiens_hsa03410	0.82009384
52	Glutathione metabolism_Homo sapiens_hsa00480	0.80780733
53	Fatty acid elongation_Homo sapiens_hsa00062	0.79573905
54	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.73109349
55	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.72988429
56	Peroxisome_Homo sapiens_hsa04146	0.72810261
57	Metabolic pathways_Homo sapiens_hsa01100	0.71579927
58	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.70686054
59	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.68329331
60	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.64865602
61	Pyruvate metabolism_Homo sapiens_hsa00620	0.63046462
62	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.62899805
63	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.61930965
64	Purine metabolism_Homo sapiens_hsa00230	0.61044836
65	Fatty acid degradation_Homo sapiens_hsa00071	0.60756363
66	Nitrogen metabolism_Homo sapiens_hsa00910	0.57734237
67	Linoleic acid metabolism_Homo sapiens_hsa00591	0.57435484
68	Steroid biosynthesis_Homo sapiens_hsa00100	0.53449995
69	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.52089664
70	RNA transport_Homo sapiens_hsa03013	0.51899841
71	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.50570002
72	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.49052348
73	Taste transduction_Homo sapiens_hsa04742	0.47588800
74	DNA replication_Homo sapiens_hsa03030	0.46818679
75	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.46544202
76	Chemical carcinogenesis_Homo sapiens_hsa05204	0.45408426
77	Fatty acid metabolism_Homo sapiens_hsa01212	0.45333677
78	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.44972974
79	Retinol metabolism_Homo sapiens_hsa00830	0.44806653
80	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.42293470
81	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.42224328
82	Nicotine addiction_Homo sapiens_hsa05033	0.41060406
83	Fat digestion and absorption_Homo sapiens_hsa04975	0.40376240
84	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.39871766
85	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.39686942
86	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.38733708
87	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.36782613
88	Olfactory transduction_Homo sapiens_hsa04740	0.36444701
89	Mineral absorption_Homo sapiens_hsa04978	0.34115754
90	Ether lipid metabolism_Homo sapiens_hsa00565	0.33457412
91	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.33411747
92	Herpes simplex infection_Homo sapiens_hsa05168	0.33028298
93	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.31245788
94	Cell cycle_Homo sapiens_hsa04110	0.30888475
95	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.29418174
96	beta-Alanine metabolism_Homo sapiens_hsa00410	0.28976637
97	Vibrio cholerae infection_Homo sapiens_hsa05110	0.28001584
98	p53 signaling pathway_Homo sapiens_hsa04115	0.27616523
99	Oocyte meiosis_Homo sapiens_hsa04114	0.26687431
100	Amphetamine addiction_Homo sapiens_hsa05031	0.25989880

ATP5F1P3

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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