ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.32941544
2	ATP synthesis coupled proton transport (GO:0015986)	4.98911048
3	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.98911048
4	protein complex biogenesis (GO:0070271)	4.98897621
5	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.79558991
6	mitochondrial respiratory chain complex assembly (GO:0033108)	4.66928901
7	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.66433091
8	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.62347596
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.62347596
10	NADH dehydrogenase complex assembly (GO:0010257)	4.62347596
11	chaperone-mediated protein transport (GO:0072321)	4.52975149
12	respiratory chain complex IV assembly (GO:0008535)	4.19536482
13	respiratory electron transport chain (GO:0022904)	4.05892952
14	electron transport chain (GO:0022900)	4.01754937
15	protein neddylation (GO:0045116)	3.89842556
16	cytochrome complex assembly (GO:0017004)	3.86622835
17	DNA double-strand break processing (GO:0000729)	3.66340487
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.52559351
19	cullin deneddylation (GO:0010388)	3.51505136
20	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.43486487
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.39500506
22	behavioral response to nicotine (GO:0035095)	3.33094722
23	proteasome assembly (GO:0043248)	3.28074648
24	protein deneddylation (GO:0000338)	3.25575958
25	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.18356778
26	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.18356778
27	negative regulation of telomere maintenance (GO:0032205)	3.17427554
28	nonmotile primary cilium assembly (GO:0035058)	3.14308577
29	protein-cofactor linkage (GO:0018065)	3.13884321
30	intracellular protein transmembrane import (GO:0044743)	3.13537194
31	ubiquinone biosynthetic process (GO:0006744)	3.11206345
32	mannosylation (GO:0097502)	3.07606495
33	ATP biosynthetic process (GO:0006754)	3.06380631
34	intraciliary transport (GO:0042073)	3.03920853
35	DNA deamination (GO:0045006)	3.02090440
36	hydrogen ion transmembrane transport (GO:1902600)	2.97092305
37	ubiquinone metabolic process (GO:0006743)	2.97081318
38	peptidyl-histidine modification (GO:0018202)	2.96821884
39	regulation of mitochondrial translation (GO:0070129)	2.94110521
40	termination of RNA polymerase III transcription (GO:0006386)	2.93502347
41	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.93502347
42	regulation of mitotic spindle checkpoint (GO:1903504)	2.91034774
43	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.91034774
44	maturation of 5.8S rRNA (GO:0000460)	2.88882567
45	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.88602821
46	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.86026961
47	DNA damage response, detection of DNA damage (GO:0042769)	2.83081403
48	protein localization to cilium (GO:0061512)	2.82492796
49	proton transport (GO:0015992)	2.81268722
50	protein targeting to mitochondrion (GO:0006626)	2.80229487
51	regulation of hexokinase activity (GO:1903299)	2.79051838
52	regulation of glucokinase activity (GO:0033131)	2.79051838
53	platelet dense granule organization (GO:0060155)	2.78802319
54	establishment of protein localization to mitochondrion (GO:0072655)	2.76889612
55	hydrogen transport (GO:0006818)	2.75418790
56	protein localization to mitochondrion (GO:0070585)	2.73889717
57	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.73821979
58	metallo-sulfur cluster assembly (GO:0031163)	2.66657470
59	iron-sulfur cluster assembly (GO:0016226)	2.66657470
60	protein K6-linked ubiquitination (GO:0085020)	2.66010684
61	preassembly of GPI anchor in ER membrane (GO:0016254)	2.63617869
62	pyrimidine nucleobase catabolic process (GO:0006208)	2.59989740
63	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.59519043
64	tRNA processing (GO:0008033)	2.59183704
65	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.58772201
66	branched-chain amino acid catabolic process (GO:0009083)	2.58694239
67	pseudouridine synthesis (GO:0001522)	2.57522342
68	protein polyglutamylation (GO:0018095)	2.57365473
69	cellular ketone body metabolic process (GO:0046950)	2.57267067
70	somite development (GO:0061053)	2.54568312
71	response to pheromone (GO:0019236)	2.53993146
72	base-excision repair, AP site formation (GO:0006285)	2.51638670
73	chromatin remodeling at centromere (GO:0031055)	2.50612650
74	resolution of meiotic recombination intermediates (GO:0000712)	2.50279926
75	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.50196661
76	quinone biosynthetic process (GO:1901663)	2.49144434
77	mitochondrial transport (GO:0006839)	2.48585331
78	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.48287231
79	positive regulation of mitochondrial fission (GO:0090141)	2.47503006
80	aldehyde catabolic process (GO:0046185)	2.47485928
81	fucose catabolic process (GO:0019317)	2.46862758
82	L-fucose metabolic process (GO:0042354)	2.46862758
83	L-fucose catabolic process (GO:0042355)	2.46862758
84	oxidative phosphorylation (GO:0006119)	2.46766050
85	GPI anchor metabolic process (GO:0006505)	2.42697584
86	replication fork processing (GO:0031297)	2.41545430
87	organelle disassembly (GO:1903008)	2.40945165
88	otic vesicle formation (GO:0030916)	2.40225888
89	intracellular protein transmembrane transport (GO:0065002)	2.39166317
90	cellular component biogenesis (GO:0044085)	2.36623129
91	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.35059081
92	ketone body metabolic process (GO:1902224)	2.34389164
93	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.33326859
94	CENP-A containing nucleosome assembly (GO:0034080)	2.33126437
95	nucleoside triphosphate biosynthetic process (GO:0009142)	2.32181976
96	regulation of cellular amino acid metabolic process (GO:0006521)	2.31941850
97	amino acid salvage (GO:0043102)	2.30336008
98	L-methionine salvage (GO:0071267)	2.30336008
99	L-methionine biosynthetic process (GO:0071265)	2.30336008
100	C-terminal protein lipidation (GO:0006501)	2.30197684

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.96699656
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.83764750
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.53373628
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.17709651
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.98570285
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.69534119
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.50681805
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.49093555
9	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.46842352
10	VDR_22108803_ChIP-Seq_LS180_Human	2.42518964
11	ELK1_19687146_ChIP-ChIP_HELA_Human	2.39799591
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.38579820
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.28900408
14	EWS_26573619_Chip-Seq_HEK293_Human	2.21319116
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.20846155
16	EZH2_22144423_ChIP-Seq_EOC_Human	2.20372010
17	VDR_23849224_ChIP-Seq_CD4+_Human	2.17014789
18	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.09807807
19	FUS_26573619_Chip-Seq_HEK293_Human	2.09350368
20	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.06047253
21	TAF15_26573619_Chip-Seq_HEK293_Human	2.04056615
22	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.02436605
23	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.02258403
24	GBX2_23144817_ChIP-Seq_PC3_Human	1.84150553
25	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.80291938
26	MYC_18940864_ChIP-ChIP_HL60_Human	1.78924176
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.73369272
28	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.72577307
29	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.71753394
30	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.70125339
31	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.69341083
32	FOXP3_21729870_ChIP-Seq_TREG_Human	1.69120075
33	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.68775355
34	P300_19829295_ChIP-Seq_ESCs_Human	1.67789138
35	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.54179926
36	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.48847349
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.46696711
38	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.45098424
39	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.44628867
40	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.44486945
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.44251022
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.43940638
43	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.42825019
44	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.42511503
45	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.40401898
46	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.39562592
47	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.39524097
48	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.35379115
49	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.33625611
50	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.30186968
51	NANOG_19829295_ChIP-Seq_ESCs_Human	1.24691164
52	SOX2_19829295_ChIP-Seq_ESCs_Human	1.24691164
53	ER_23166858_ChIP-Seq_MCF-7_Human	1.22809675
54	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.21798659
55	* GABP_19822575_ChIP-Seq_HepG2_Human	1.21161862
56	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.19843017
57	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.19663024
58	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.19361616
59	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.19296933
60	CBP_20019798_ChIP-Seq_JUKART_Human	1.17936732
61	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.17936732
62	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.15208196
63	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.14321185
64	TTF2_22483619_ChIP-Seq_HELA_Human	1.12673808
65	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.12458247
66	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.10279464
67	RNF2_27304074_Chip-Seq_NSC_Mouse	1.09975728
68	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.08987015
69	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.07728592
70	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.06914876
71	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.06579767
72	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05161490
73	DCP1A_22483619_ChIP-Seq_HELA_Human	1.03599311
74	AR_25329375_ChIP-Seq_VCAP_Human	1.03449831
75	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.03011188
76	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.01997434
77	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.01345090
78	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.00892201
79	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.00314593
80	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.00191332
81	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.00191332
82	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.99765804
83	HTT_18923047_ChIP-ChIP_STHdh_Human	0.99035265
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.98596157
85	NCOR_22424771_ChIP-Seq_293T_Human	0.97724536
86	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.96881620
87	AR_20517297_ChIP-Seq_VCAP_Human	0.96205885
88	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.96077499
89	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.95579246
90	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.95059831
91	SMAD4_21799915_ChIP-Seq_A2780_Human	0.94824328
92	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.93918767
93	BCAT_22108803_ChIP-Seq_LS180_Human	0.93752759
94	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.93421206
95	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.92828792
96	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.92330329
97	TCF4_22108803_ChIP-Seq_LS180_Human	0.90827132
98	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.90814845
99	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.90624595
100	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.90130836

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	3.25189881
2	MP0001529_abnormal_vocalization	2.65845035
3	MP0008877_abnormal_DNA_methylation	2.48076644
4	MP0003880_abnormal_central_pattern	2.42682542
5	MP0008789_abnormal_olfactory_epithelium	2.30319015
6	MP0002102_abnormal_ear_morphology	2.27773042
7	MP0001984_abnormal_olfaction	2.19523832
8	MP0002837_dystrophic_cardiac_calcinosis	2.13154997
9	MP0000372_irregular_coat_pigmentation	2.12401205
10	MP0006072_abnormal_retinal_apoptosis	2.11086363
11	MP0008058_abnormal_DNA_repair	2.08186630
12	MP0003646_muscle_fatigue	2.05579942
13	MP0002822_catalepsy	2.04951152
14	MP0002653_abnormal_ependyma_morphology	2.02503467
15	MP0002736_abnormal_nociception_after	1.97059124
16	MP0002234_abnormal_pharynx_morphology	1.95197289
17	MP0005394_taste/olfaction_phenotype	1.92540887
18	MP0005499_abnormal_olfactory_system	1.92540887
19	MP0002938_white_spotting	1.91020188
20	MP0003122_maternal_imprinting	1.90125016
21	MP0003136_yellow_coat_color	1.89347301
22	MP0006276_abnormal_autonomic_nervous	1.87106374
23	MP0005551_abnormal_eye_electrophysiolog	1.85965749
24	MP0003718_maternal_effect	1.84111927
25	MP0008875_abnormal_xenobiotic_pharmacok	1.70286552
26	MP0001968_abnormal_touch/_nociception	1.69818512
27	MP0002638_abnormal_pupillary_reflex	1.69772188
28	MP0004147_increased_porphyrin_level	1.68413125
29	MP0004142_abnormal_muscle_tone	1.67480679
30	MP0003121_genomic_imprinting	1.56575321
31	MP0006036_abnormal_mitochondrial_physio	1.54609541
32	MP0004133_heterotaxia	1.51211792
33	MP0001293_anophthalmia	1.49903238
34	MP0005253_abnormal_eye_physiology	1.48227184
35	MP0003011_delayed_dark_adaptation	1.46386057
36	MP0003186_abnormal_redox_activity	1.44515821
37	MP0009046_muscle_twitch	1.41813692
38	MP0001485_abnormal_pinna_reflex	1.40495066
39	MP0002272_abnormal_nervous_system	1.37981709
40	MP0009745_abnormal_behavioral_response	1.34997985
41	MP0008995_early_reproductive_senescence	1.34762016
42	MP0000049_abnormal_middle_ear	1.34611009
43	MP0000778_abnormal_nervous_system	1.29799982
44	MP0003195_calcinosis	1.27607534
45	MP0002876_abnormal_thyroid_physiology	1.26808252
46	MP0005084_abnormal_gallbladder_morpholo	1.26384359
47	MP0000631_abnormal_neuroendocrine_gland	1.24946599
48	MP0004145_abnormal_muscle_electrophysio	1.23670272
49	MP0008872_abnormal_physiological_respon	1.21481233
50	MP0009697_abnormal_copulation	1.17067540
51	MP0000647_abnormal_sebaceous_gland	1.16115025
52	MP0010094_abnormal_chromosome_stability	1.12135253
53	MP0002160_abnormal_reproductive_system	1.11391568
54	MP0002277_abnormal_respiratory_mucosa	1.10307987
55	MP0002735_abnormal_chemical_nociception	1.10126796
56	MP0002751_abnormal_autonomic_nervous	1.09172346
57	MP0002233_abnormal_nose_morphology	1.07424836
58	MP0005646_abnormal_pituitary_gland	1.07069045
59	MP0003787_abnormal_imprinting	1.06242075
60	MP0001905_abnormal_dopamine_level	1.03400929
61	MP0010030_abnormal_orbit_morphology	1.03208103
62	MP0004043_abnormal_pH_regulation	1.01236124
63	MP0003786_premature_aging	1.00101120
64	MP0003693_abnormal_embryo_hatching	0.98904071
65	MP0001986_abnormal_taste_sensitivity	0.98850284
66	MP0001486_abnormal_startle_reflex	0.98594915
67	MP0000427_abnormal_hair_cycle	0.97990451
68	MP0005389_reproductive_system_phenotype	0.96675235
69	MP0005379_endocrine/exocrine_gland_phen	0.96420707
70	MP0002557_abnormal_social/conspecific_i	0.95132653
71	MP0002210_abnormal_sex_determination	0.94501942
72	MP0005645_abnormal_hypothalamus_physiol	0.93480051
73	MP0006035_abnormal_mitochondrial_morpho	0.93016037
74	MP0002752_abnormal_somatic_nervous	0.92913052
75	MP0001764_abnormal_homeostasis	0.92547895
76	MP0004885_abnormal_endolymph	0.92393883
77	MP0005195_abnormal_posterior_eye	0.91774044
78	MP0003806_abnormal_nucleotide_metabolis	0.91633768
79	MP0005085_abnormal_gallbladder_physiolo	0.89417592
80	MP0002095_abnormal_skin_pigmentation	0.88881654
81	MP0002067_abnormal_sensory_capabilities	0.88633193
82	MP0002572_abnormal_emotion/affect_behav	0.87859777
83	MP0004924_abnormal_behavior	0.87698110
84	MP0005386_behavior/neurological_phenoty	0.87698110
85	MP0003567_abnormal_fetal_cardiomyocyte	0.86736987
86	MP0000026_abnormal_inner_ear	0.86560899
87	MP0003890_abnormal_embryonic-extraembry	0.85630467
88	MP0005332_abnormal_amino_acid	0.85620334
89	MP0001929_abnormal_gametogenesis	0.85339500
90	MP0003137_abnormal_impulse_conducting	0.85187083
91	MP0002734_abnormal_mechanical_nocicepti	0.84325034
92	MP0002282_abnormal_trachea_morphology	0.84100474
93	MP0002184_abnormal_innervation	0.83658074
94	MP0004215_abnormal_myocardial_fiber	0.83005653
95	MP0001963_abnormal_hearing_physiology	0.82996761
96	MP0002064_seizures	0.82924904
97	MP0008932_abnormal_embryonic_tissue	0.82681697
98	MP0003937_abnormal_limbs/digits/tail_de	0.81896618
99	MP0004270_analgesia	0.81017918
100	MP0009379_abnormal_foot_pigmentation	0.79183776

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.40489741
2	Abnormal mitochondria in muscle tissue (HP:0008316)	4.04775860
3	Mitochondrial inheritance (HP:0001427)	4.04316539
4	Acute encephalopathy (HP:0006846)	3.93901930
5	Increased CSF lactate (HP:0002490)	3.77243156
6	Progressive macrocephaly (HP:0004481)	3.71130398
7	Medial flaring of the eyebrow (HP:0010747)	3.62234073
8	Hepatocellular necrosis (HP:0001404)	3.55611938
9	Molar tooth sign on MRI (HP:0002419)	3.51180813
10	Abnormality of midbrain morphology (HP:0002418)	3.51180813
11	Lipid accumulation in hepatocytes (HP:0006561)	3.50173907
12	Pancreatic cysts (HP:0001737)	3.45989612
13	Increased hepatocellular lipid droplets (HP:0006565)	3.44816637
14	Hepatic necrosis (HP:0002605)	3.38303636
15	Pancreatic fibrosis (HP:0100732)	3.34840313
16	Abnormality of the labia minora (HP:0012880)	3.27595322
17	True hermaphroditism (HP:0010459)	3.27172835
18	Gait imbalance (HP:0002141)	3.09333820
19	Congenital primary aphakia (HP:0007707)	3.03824366
20	Cerebral edema (HP:0002181)	2.96743320
21	Renal Fanconi syndrome (HP:0001994)	2.95954392
22	Nephronophthisis (HP:0000090)	2.93753087
23	3-Methylglutaconic aciduria (HP:0003535)	2.90879157
24	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.88784527
25	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.88784527
26	Nephrogenic diabetes insipidus (HP:0009806)	2.84824456
27	Genital tract atresia (HP:0001827)	2.54917478
28	Methylmalonic acidemia (HP:0002912)	2.54083655
29	Lactic acidosis (HP:0003128)	2.53193348
30	Increased serum lactate (HP:0002151)	2.51045135
31	Abnormality of alanine metabolism (HP:0010916)	2.48956827
32	Hyperalaninemia (HP:0003348)	2.48956827
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.48956827
34	Sclerocornea (HP:0000647)	2.48673493
35	Increased intramyocellular lipid droplets (HP:0012240)	2.48144357
36	Vaginal atresia (HP:0000148)	2.48112767
37	Optic disc pallor (HP:0000543)	2.42461219
38	Hyperglycinemia (HP:0002154)	2.39027427
39	Septo-optic dysplasia (HP:0100842)	2.34381732
40	Respiratory failure (HP:0002878)	2.32488106
41	Renal cortical cysts (HP:0000803)	2.30448747
42	Colon cancer (HP:0003003)	2.29685553
43	Abnormality of the renal medulla (HP:0100957)	2.27999801
44	Type I transferrin isoform profile (HP:0003642)	2.27100004
45	Congenital stationary night blindness (HP:0007642)	2.26288350
46	Increased muscle lipid content (HP:0009058)	2.17362644
47	Lethargy (HP:0001254)	2.15555425
48	Abnormality of the renal cortex (HP:0011035)	2.12751794
49	Methylmalonic aciduria (HP:0012120)	2.10467747
50	Poor coordination (HP:0002370)	2.10347685
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.08053658
52	Glycosuria (HP:0003076)	2.07762572
53	Abnormality of urine glucose concentration (HP:0011016)	2.07762572
54	CNS demyelination (HP:0007305)	2.01491545
55	Exercise intolerance (HP:0003546)	2.00054772
56	Abolished electroretinogram (ERG) (HP:0000550)	1.98628589
57	Postaxial hand polydactyly (HP:0001162)	1.95896306
58	Leukodystrophy (HP:0002415)	1.95501290
59	Optic nerve hypoplasia (HP:0000609)	1.95186968
60	Exertional dyspnea (HP:0002875)	1.94806796
61	Abnormality of renal resorption (HP:0011038)	1.93100030
62	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.92838115
63	Abnormality of serum amino acid levels (HP:0003112)	1.91843866
64	Type II lissencephaly (HP:0007260)	1.91742075
65	Anencephaly (HP:0002323)	1.91555068
66	Hyperglycinuria (HP:0003108)	1.91153885
67	Abnormal glycosylation (HP:0012345)	1.89067382
68	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.89067382
69	Abnormal protein N-linked glycosylation (HP:0012347)	1.89067382
70	Abnormal protein glycosylation (HP:0012346)	1.89067382
71	Abnormality of serine family amino acid metabolism (HP:0010894)	1.88621748
72	Abnormality of glycine metabolism (HP:0010895)	1.88621748
73	Postaxial foot polydactyly (HP:0001830)	1.88356431
74	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.87274615
75	Chronic hepatic failure (HP:0100626)	1.85737554
76	Congenital, generalized hypertrichosis (HP:0004540)	1.82319704
77	Male pseudohermaphroditism (HP:0000037)	1.81319234
78	Rib fusion (HP:0000902)	1.80707236
79	Short tibia (HP:0005736)	1.79707109
80	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.79693771
81	Cystic liver disease (HP:0006706)	1.78778387
82	Oligodactyly (hands) (HP:0001180)	1.78532111
83	Intestinal atresia (HP:0011100)	1.77327003
84	Supernumerary spleens (HP:0009799)	1.75921397
85	Adrenal hypoplasia (HP:0000835)	1.75117084
86	Hypothermia (HP:0002045)	1.73389906
87	Increased serum pyruvate (HP:0003542)	1.71985513
88	Absent septum pellucidum (HP:0001331)	1.71589965
89	Generalized aminoaciduria (HP:0002909)	1.70404698
90	Degeneration of anterior horn cells (HP:0002398)	1.69246388
91	Abnormality of the anterior horn cell (HP:0006802)	1.69246388
92	Inability to walk (HP:0002540)	1.69027110
93	Broad-based gait (HP:0002136)	1.69005999
94	X-linked dominant inheritance (HP:0001423)	1.67462332
95	Hyperphosphaturia (HP:0003109)	1.66817166
96	Specific learning disability (HP:0001328)	1.65843578
97	Preaxial hand polydactyly (HP:0001177)	1.64983226
98	Occipital encephalocele (HP:0002085)	1.64601894
99	Aganglionic megacolon (HP:0002251)	1.64249548
100	Broad foot (HP:0001769)	1.64130847

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	VRK2	3.48983050
2	STK16	2.81325496
3	WNK3	2.79532194
4	FRK	2.57064766
5	BMPR1B	2.55409147
6	NUAK1	2.52181863
7	MAP4K2	2.44580828
8	TRIM28	2.33506190
9	PINK1	2.15010426
10	BUB1	2.07157856
11	BCKDK	1.98468470
12	VRK1	1.98239690
13	WEE1	1.88480149
14	TNIK	1.81875108
15	MAPK13	1.80068120
16	EIF2AK3	1.79881113
17	CASK	1.67865566
18	CSNK1G3	1.65314486
19	ADRBK2	1.63228844
20	ZAK	1.59463020
21	MAP3K4	1.58777439
22	MAP2K7	1.56808898
23	CSNK1G2	1.55924790
24	DYRK2	1.54313900
25	TAF1	1.50691834
26	CSNK1G1	1.48516885
27	ERBB3	1.48459710
28	BRSK2	1.47993734
29	GRK1	1.45874525
30	NEK1	1.44605169
31	MKNK2	1.43941343
32	PLK3	1.39959998
33	MST4	1.39597529
34	CSNK1A1L	1.30395864
35	WNK4	1.28225338
36	SRPK1	1.27341851
37	PBK	1.23932243
38	PLK2	1.21419250
39	MARK1	1.20521801
40	MAP3K12	1.19310938
41	BCR	1.17473402
42	OBSCN	1.15422861
43	NME1	1.14159932
44	EPHA4	1.07882232
45	PLK4	1.07830148
46	PHKG2	1.05953551
47	PHKG1	1.05953551
48	MKNK1	1.05620336
49	EIF2AK2	1.01591292
50	CDC7	1.01474036
51	ACVR1B	1.00327471
52	PRKCG	0.95503566
53	INSRR	0.95131547
54	DYRK3	0.93422403
55	PAK3	0.92827130
56	PLK1	0.90894583
57	PNCK	0.89618248
58	LIMK1	0.85283575
59	PDK2	0.78947089
60	STK39	0.75920843
61	OXSR1	0.73656609
62	TLK1	0.71863530
63	EIF2AK1	0.70607239
64	PRKCE	0.69539863
65	TTK	0.66560369
66	RPS6KA4	0.65683139
67	ATR	0.58687255
68	EPHB2	0.57870423
69	TGFBR1	0.57320146
70	GRK5	0.56881931
71	BRSK1	0.56782683
72	TIE1	0.56661270
73	ADRBK1	0.54852538
74	CSNK1A1	0.54270267
75	CHEK2	0.54248074
76	CAMK2A	0.52330987
77	MAPKAPK3	0.50654310
78	MAPKAPK5	0.50033589
79	CSNK2A1	0.49690909
80	CSNK2A2	0.47334592
81	PRKACA	0.46668402
82	FLT3	0.46609945
83	TSSK6	0.45865355
84	AURKB	0.41992635
85	STK38L	0.41170672
86	AURKA	0.40876649
87	CSNK1D	0.39188075
88	PKN1	0.38745161
89	MINK1	0.38261338
90	RPS6KA5	0.38049672
91	ATM	0.37865927
92	CSNK1E	0.36958009
93	CAMK2D	0.36546008
94	GRK7	0.35797450
95	CDK8	0.35274134
96	STK3	0.34924469
97	CCNB1	0.34449653
98	CDK3	0.32800776
99	PRKG1	0.32552531
100	PRKCI	0.32165301

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.80360154
2	Parkinsons disease_Homo sapiens_hsa05012	3.18100757
3	Protein export_Homo sapiens_hsa03060	3.12513186
4	Proteasome_Homo sapiens_hsa03050	2.82938206
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.57534935
6	Ribosome_Homo sapiens_hsa03010	2.54070522
7	RNA polymerase_Homo sapiens_hsa03020	2.32499617
8	Huntingtons disease_Homo sapiens_hsa05016	2.23124661
9	Alzheimers disease_Homo sapiens_hsa05010	2.16122324
10	Propanoate metabolism_Homo sapiens_hsa00640	2.13956142
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.06468123
12	Homologous recombination_Homo sapiens_hsa03440	2.04541786
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.97329850
14	Basal transcription factors_Homo sapiens_hsa03022	1.89998139
15	Mismatch repair_Homo sapiens_hsa03430	1.82082479
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.81779031
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.76209893
18	Cardiac muscle contraction_Homo sapiens_hsa04260	1.75317407
19	Butanoate metabolism_Homo sapiens_hsa00650	1.70548864
20	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.69486688
21	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.65812649
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59293178
23	RNA degradation_Homo sapiens_hsa03018	1.58161124
24	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.56149001
25	Nucleotide excision repair_Homo sapiens_hsa03420	1.49000843
26	Fatty acid elongation_Homo sapiens_hsa00062	1.43848206
27	Caffeine metabolism_Homo sapiens_hsa00232	1.42957258
28	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.40546803
29	Peroxisome_Homo sapiens_hsa04146	1.38160118
30	Non-homologous end-joining_Homo sapiens_hsa03450	1.34214241
31	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.31187478
32	Phototransduction_Homo sapiens_hsa04744	1.28458629
33	Folate biosynthesis_Homo sapiens_hsa00790	1.27812370
34	Base excision repair_Homo sapiens_hsa03410	1.26941325
35	Pyruvate metabolism_Homo sapiens_hsa00620	1.16520723
36	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.15013676
37	Pyrimidine metabolism_Homo sapiens_hsa00240	1.14893252
38	Steroid biosynthesis_Homo sapiens_hsa00100	1.13881081
39	One carbon pool by folate_Homo sapiens_hsa00670	1.11447546
40	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.11167357
41	DNA replication_Homo sapiens_hsa03030	1.10167101
42	Sulfur metabolism_Homo sapiens_hsa00920	1.09800988
43	Tryptophan metabolism_Homo sapiens_hsa00380	1.08799581
44	Nicotine addiction_Homo sapiens_hsa05033	1.06458619
45	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.06220301
46	Linoleic acid metabolism_Homo sapiens_hsa00591	1.03270629
47	Sulfur relay system_Homo sapiens_hsa04122	1.03223342
48	Selenocompound metabolism_Homo sapiens_hsa00450	1.02585018
49	Chemical carcinogenesis_Homo sapiens_hsa05204	1.01225159
50	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.00267654
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.99438098
52	Spliceosome_Homo sapiens_hsa03040	0.98984654
53	Purine metabolism_Homo sapiens_hsa00230	0.97756688
54	RNA transport_Homo sapiens_hsa03013	0.96279347
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.95613829
56	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.90330531
57	Metabolic pathways_Homo sapiens_hsa01100	0.90141338
58	Nitrogen metabolism_Homo sapiens_hsa00910	0.89861767
59	Collecting duct acid secretion_Homo sapiens_hsa04966	0.89618755
60	Fatty acid degradation_Homo sapiens_hsa00071	0.89256853
61	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.87665308
62	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.87531800
63	Glutathione metabolism_Homo sapiens_hsa00480	0.87196712
64	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.82747511
65	Retinol metabolism_Homo sapiens_hsa00830	0.81690000
66	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.81343385
67	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.81310390
68	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.78885374
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.77776959
70	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.77544308
71	Fatty acid metabolism_Homo sapiens_hsa01212	0.77210590
72	Regulation of autophagy_Homo sapiens_hsa04140	0.75444444
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.65014570
74	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.60543843
75	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.60423589
76	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.58932981
77	Ether lipid metabolism_Homo sapiens_hsa00565	0.55266996
78	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.54229763
79	Olfactory transduction_Homo sapiens_hsa04740	0.52975901
80	Arginine and proline metabolism_Homo sapiens_hsa00330	0.50211310
81	Taste transduction_Homo sapiens_hsa04742	0.48648985
82	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.48075718
83	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.47738125
84	Circadian rhythm_Homo sapiens_hsa04710	0.45106069
85	Fat digestion and absorption_Homo sapiens_hsa04975	0.43951927
86	Carbon metabolism_Homo sapiens_hsa01200	0.43666922
87	Oocyte meiosis_Homo sapiens_hsa04114	0.43308884
88	GABAergic synapse_Homo sapiens_hsa04727	0.41180434
89	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.40879935
90	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.39925443
91	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.38290982
92	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.37684988
93	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.36886822
94	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.31079534
95	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.28736083
96	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.28535261
97	Cell cycle_Homo sapiens_hsa04110	0.28486759
98	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.27979305
99	Histidine metabolism_Homo sapiens_hsa00340	0.25978385
100	Tyrosine metabolism_Homo sapiens_hsa00350	0.25961781

C6ORF203

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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