ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ATP synthesis coupled proton transport (GO:0015986)	6.30362408
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	6.30362408
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	6.11593459
4	viral transcription (GO:0019083)	5.67401015
5	ribosomal small subunit assembly (GO:0000028)	5.65686569
6	translational termination (GO:0006415)	5.51549145
7	ribosomal small subunit biogenesis (GO:0042274)	5.40283639
8	maturation of SSU-rRNA (GO:0030490)	5.17731889
9	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	5.07066606
10	cotranslational protein targeting to membrane (GO:0006613)	4.97835551
11	translational elongation (GO:0006414)	4.97203250
12	protein targeting to ER (GO:0045047)	4.95298167
13	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.94570508
14	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.94570508
15	NADH dehydrogenase complex assembly (GO:0010257)	4.94570508
16	protein complex biogenesis (GO:0070271)	4.89835236
17	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.87747896
18	ribosomal large subunit biogenesis (GO:0042273)	4.74307629
19	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.71719636
20	protein localization to endoplasmic reticulum (GO:0070972)	4.70611184
21	respiratory electron transport chain (GO:0022904)	4.63568055
22	electron transport chain (GO:0022900)	4.60522169
23	mitochondrial respiratory chain complex assembly (GO:0033108)	4.52018603
24	DNA deamination (GO:0045006)	4.50882770
25	viral life cycle (GO:0019058)	4.14882957
26	cellular protein complex disassembly (GO:0043624)	4.11872425
27	chaperone-mediated protein transport (GO:0072321)	4.11453052
28	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.01885254
29	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.98825266
30	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.98278723
31	translation (GO:0006412)	3.97052202
32	translational initiation (GO:0006413)	3.96257797
33	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.88692649
34	behavioral response to nicotine (GO:0035095)	3.83458267
35	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.79560747
36	termination of RNA polymerase III transcription (GO:0006386)	3.79560747
37	respiratory chain complex IV assembly (GO:0008535)	3.69948936
38	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.64170461
39	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.64170461
40	protein neddylation (GO:0045116)	3.62610575
41	cellular component biogenesis (GO:0044085)	3.61010767
42	ATP biosynthetic process (GO:0006754)	3.59659612
43	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.58371541
44	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.54488028
45	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.52936229
46	proteasome assembly (GO:0043248)	3.43586548
47	ribonucleoprotein complex biogenesis (GO:0022613)	3.40233112
48	protein complex disassembly (GO:0043241)	3.37648002
49	cytochrome complex assembly (GO:0017004)	3.32233928
50	GTP biosynthetic process (GO:0006183)	3.31645516
51	protein targeting to membrane (GO:0006612)	3.26645957
52	platelet dense granule organization (GO:0060155)	3.23006413
53	macromolecular complex disassembly (GO:0032984)	3.22443128
54	negative regulation of mast cell activation (GO:0033004)	3.21512738
55	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.18284955
56	hydrogen ion transmembrane transport (GO:1902600)	3.16896257
57	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.14589581
58	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.11732283
59	aldehyde catabolic process (GO:0046185)	3.09034767
60	water-soluble vitamin biosynthetic process (GO:0042364)	3.07826552
61	kynurenine metabolic process (GO:0070189)	3.07365417
62	deoxyribose phosphate catabolic process (GO:0046386)	3.02515026
63	protein targeting to mitochondrion (GO:0006626)	3.00502020
64	preassembly of GPI anchor in ER membrane (GO:0016254)	3.00376313
65	rRNA modification (GO:0000154)	3.00314814
66	mRNA catabolic process (GO:0006402)	2.98492752
67	proton transport (GO:0015992)	2.96351527
68	GPI anchor metabolic process (GO:0006505)	2.95664656
69	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.94956479
70	deoxyribonucleotide catabolic process (GO:0009264)	2.94425365
71	pyrimidine nucleotide catabolic process (GO:0006244)	2.93736073
72	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.92011128
73	hydrogen transport (GO:0006818)	2.90838599
74	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.90766778
75	rRNA processing (GO:0006364)	2.90722080
76	GPI anchor biosynthetic process (GO:0006506)	2.90494181
77	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.89900415
78	signal peptide processing (GO:0006465)	2.88830202
79	regulation of cellular amino acid metabolic process (GO:0006521)	2.88555300
80	ubiquinone biosynthetic process (GO:0006744)	2.86959218
81	nucleoside triphosphate biosynthetic process (GO:0009142)	2.86076321
82	rRNA metabolic process (GO:0016072)	2.84816923
83	cellular ketone body metabolic process (GO:0046950)	2.83526937
84	UTP biosynthetic process (GO:0006228)	2.82555793
85	base-excision repair, AP site formation (GO:0006285)	2.81301345
86	protein-cofactor linkage (GO:0018065)	2.81020607
87	RNA catabolic process (GO:0006401)	2.79681516
88	establishment of protein localization to mitochondrion (GO:0072655)	2.78680157
89	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.78154010
90	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.78012211
91	UTP metabolic process (GO:0046051)	2.75701983
92	oxidative phosphorylation (GO:0006119)	2.72771718
93	protein localization to mitochondrion (GO:0070585)	2.72310089
94	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	2.72134109
95	pseudouridine synthesis (GO:0001522)	2.68765321
96	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.68335042
97	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.68335042
98	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.68335042
99	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.67286630
100	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.66147199

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.31243087
2	ELF1_17652178_ChIP-ChIP_JURKAT_Human	4.23409190
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.08790345
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.75192988
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.46023412
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.45548722
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.16826596
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.08248971
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.98788841
10	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.84685309
11	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.77855363
12	VDR_22108803_ChIP-Seq_LS180_Human	2.54942801
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.43896979
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.34268174
15	FOXP3_21729870_ChIP-Seq_TREG_Human	2.25191970
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.23369545
17	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.14891497
18	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.05801831
19	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.04871969
20	ELK1_19687146_ChIP-ChIP_HELA_Human	1.98302544
21	MYC_18940864_ChIP-ChIP_HL60_Human	1.90551195
22	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.90212948
23	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.88400854
24	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.87151419
25	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.83927878
26	EZH2_22144423_ChIP-Seq_EOC_Human	1.81666679
27	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.72975037
28	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.71813781
29	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.69466586
30	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.68232859
31	TTF2_22483619_ChIP-Seq_HELA_Human	1.60119619
32	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.47938624
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.47013107
34	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.44649920
35	GABP_19822575_ChIP-Seq_HepG2_Human	1.43892347
36	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.43673494
37	EWS_26573619_Chip-Seq_HEK293_Human	1.43057799
38	IRF1_19129219_ChIP-ChIP_H3396_Human	1.40856867
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.37199126
40	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.37104430
41	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.34555593
42	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.33972633
43	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.33014223
44	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.31977713
45	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.30397808
46	XRN2_22483619_ChIP-Seq_HELA_Human	1.26648489
47	DCP1A_22483619_ChIP-Seq_HELA_Human	1.26005823
48	IGF1R_20145208_ChIP-Seq_DFB_Human	1.25229955
49	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.24281446
50	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.23560700
51	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.22947112
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.22016009
53	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.21681139
54	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.21178749
55	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20998451
56	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.19852388
57	AR_20517297_ChIP-Seq_VCAP_Human	1.18833751
58	TAF2_19829295_ChIP-Seq_ESCs_Human	1.18392175
59	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.17797349
60	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.17797349
61	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.16945213
62	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.14172266
63	NCOR_22424771_ChIP-Seq_293T_Human	1.13817268
64	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.13739312
65	NANOG_20526341_ChIP-Seq_ESCs_Human	1.13037502
66	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.11990580
67	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.11276763
68	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.11075318
69	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.08459921
70	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.07722065
71	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.03447584
72	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.03171131
73	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.02980730
74	SOX2_19829295_ChIP-Seq_ESCs_Human	1.02934848
75	NANOG_19829295_ChIP-Seq_ESCs_Human	1.02934848
76	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.02915739
77	ERG_20517297_ChIP-Seq_VCAP_Human	1.01679230
78	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01506983
79	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.01400109
80	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.01390557
81	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.99947187
82	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	0.97832369
83	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.97573388
84	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.96663525
85	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.96302880
86	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95269689
87	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.94546930
88	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.94166080
89	ERA_21632823_ChIP-Seq_H3396_Human	0.93523717
90	CIITA_25753668_ChIP-Seq_RAJI_Human	0.91599463
91	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.91482748
92	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.90348904
93	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.89625435
94	FUS_26573619_Chip-Seq_HEK293_Human	0.89489087
95	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.88751348
96	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.88341304
97	GATA3_26560356_Chip-Seq_TH2_Human	0.86956163
98	HTT_18923047_ChIP-ChIP_STHdh_Human	0.86864969
99	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.86512038
100	CBP_20019798_ChIP-Seq_JUKART_Human	0.86512038

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	6.02111832
2	MP0006292_abnormal_olfactory_placode	3.31480751
3	MP0003646_muscle_fatigue	3.05551044
4	MP0002163_abnormal_gland_morphology	2.65166519
5	MP0000372_irregular_coat_pigmentation	2.62463279
6	MP0005671_abnormal_response_to	2.30556967
7	MP0008875_abnormal_xenobiotic_pharmacok	2.25497785
8	MP0002102_abnormal_ear_morphology	2.23226152
9	MP0004142_abnormal_muscle_tone	2.14469076
10	MP0004147_increased_porphyrin_level	2.04612251
11	MP0004145_abnormal_muscle_electrophysio	2.03636512
12	MP0003787_abnormal_imprinting	2.03576184
13	MP0006276_abnormal_autonomic_nervous	1.98023389
14	MP0006072_abnormal_retinal_apoptosis	1.89074646
15	MP0008872_abnormal_physiological_respon	1.87803672
16	MP0003806_abnormal_nucleotide_metabolis	1.82979559
17	MP0001835_abnormal_antigen_presentation	1.81209466
18	MP0006036_abnormal_mitochondrial_physio	1.79964967
19	MP0005645_abnormal_hypothalamus_physiol	1.79394754
20	MP0008877_abnormal_DNA_methylation	1.78796353
21	MP0005551_abnormal_eye_electrophysiolog	1.78555046
22	MP0002638_abnormal_pupillary_reflex	1.77823890
23	MP0008058_abnormal_DNA_repair	1.76671152
24	MP0005379_endocrine/exocrine_gland_phen	1.70246537
25	MP0003186_abnormal_redox_activity	1.70057666
26	MP0003880_abnormal_central_pattern	1.66318925
27	MP0005084_abnormal_gallbladder_morpholo	1.58133911
28	MP0002837_dystrophic_cardiac_calcinosis	1.47224598
29	MP0005389_reproductive_system_phenotype	1.46717477
30	MP0005646_abnormal_pituitary_gland	1.45800167
31	MP0001905_abnormal_dopamine_level	1.44646164
32	MP0002160_abnormal_reproductive_system	1.42496457
33	MP0003123_paternal_imprinting	1.41709336
34	MP0009764_decreased_sensitivity_to	1.37668647
35	MP0001764_abnormal_homeostasis	1.36121683
36	MP0004885_abnormal_endolymph	1.32919319
37	MP0005075_abnormal_melanosome_morpholog	1.32349554
38	MP0002938_white_spotting	1.31570159
39	MP0003011_delayed_dark_adaptation	1.30197750
40	MP0001485_abnormal_pinna_reflex	1.25569533
41	MP0000631_abnormal_neuroendocrine_gland	1.25008132
42	MP0002095_abnormal_skin_pigmentation	1.22498622
43	MP0009046_muscle_twitch	1.21664983
44	MP0003718_maternal_effect	1.20481927
45	MP0001986_abnormal_taste_sensitivity	1.18870859
46	MP0002272_abnormal_nervous_system	1.17515049
47	MP0002006_tumorigenesis	1.15587875
48	MP0002166_altered_tumor_susceptibility	1.14949490
49	MP0009333_abnormal_splenocyte_physiolog	1.14820490
50	MP0001968_abnormal_touch/_nociception	1.12809906
51	MP0001529_abnormal_vocalization	1.12807900
52	MP0002234_abnormal_pharynx_morphology	1.12749976
53	MP0001919_abnormal_reproductive_system	1.12501356
54	MP0005253_abnormal_eye_physiology	1.11047830
55	MP0003121_genomic_imprinting	1.08443950
56	MP0001293_anophthalmia	1.05907808
57	MP0008789_abnormal_olfactory_epithelium	1.05034300
58	MP0003693_abnormal_embryo_hatching	1.04745579
59	MP0006035_abnormal_mitochondrial_morpho	1.04617908
60	MP0003786_premature_aging	1.04392409
61	MP0001970_abnormal_pain_threshold	1.00316945
62	MP0003195_calcinosis	0.99070205
63	MP0009745_abnormal_behavioral_response	0.99020880
64	MP0009785_altered_susceptibility_to	0.97891598
65	MP0002138_abnormal_hepatobiliary_system	0.97216500
66	MP0002736_abnormal_nociception_after	0.96422125
67	MP0001800_abnormal_humoral_immune	0.94789836
68	MP0005377_hearing/vestibular/ear_phenot	0.93894288
69	MP0003878_abnormal_ear_physiology	0.93894288
70	MP0000049_abnormal_middle_ear	0.92856434
71	MP0005195_abnormal_posterior_eye	0.92015408
72	MP0005174_abnormal_tail_pigmentation	0.91244187
73	MP0002148_abnormal_hypersensitivity_rea	0.91124036
74	MP0005636_abnormal_mineral_homeostasis	0.88968658
75	MP0002876_abnormal_thyroid_physiology	0.87100344
76	MP0002733_abnormal_thermal_nociception	0.86596887
77	MP0005360_urolithiasis	0.85574581
78	MP0001440_abnormal_grooming_behavior	0.84344556
79	MP0004043_abnormal_pH_regulation	0.81581064
80	MP0002210_abnormal_sex_determination	0.80322823
81	MP0002557_abnormal_social/conspecific_i	0.78293675
82	MP0005332_abnormal_amino_acid	0.77305000
83	MP0005387_immune_system_phenotype	0.76210444
84	MP0001790_abnormal_immune_system	0.76210444
85	MP0010094_abnormal_chromosome_stability	0.74285529
86	MP0001119_abnormal_female_reproductive	0.72749112
87	MP0003638_abnormal_response/metabolism_	0.71888870
88	MP0002277_abnormal_respiratory_mucosa	0.71069115
89	MP0002735_abnormal_chemical_nociception	0.70448874
90	MP0002723_abnormal_immune_serum	0.70337498
91	MP0001501_abnormal_sleep_pattern	0.70171371
92	MP0002752_abnormal_somatic_nervous	0.67980848
93	MP0002572_abnormal_emotion/affect_behav	0.67247376
94	MP0001929_abnormal_gametogenesis	0.66422284
95	MP0008775_abnormal_heart_ventricle	0.66145444
96	MP0000685_abnormal_immune_system	0.66110331
97	MP0010386_abnormal_urinary_bladder	0.66097417
98	MP0005423_abnormal_somatic_nervous	0.65863140
99	MP0005408_hypopigmentation	0.65806671
100	MP0005000_abnormal_immune_tolerance	0.65165246

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.64685503
2	Abnormal mitochondria in muscle tissue (HP:0008316)	5.14846962
3	Mitochondrial inheritance (HP:0001427)	4.96835552
4	Acute encephalopathy (HP:0006846)	4.94653127
5	Progressive macrocephaly (HP:0004481)	4.65701488
6	Increased CSF lactate (HP:0002490)	4.54224581
7	Increased hepatocellular lipid droplets (HP:0006565)	4.41359520
8	Hepatocellular necrosis (HP:0001404)	4.35087494
9	Lipid accumulation in hepatocytes (HP:0006561)	4.19380511
10	Absent rod-and cone-mediated responses on ERG (HP:0007688)	4.04126302
11	Hepatic necrosis (HP:0002605)	3.88290049
12	Cerebral edema (HP:0002181)	3.70726352
13	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.56694593
14	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.56694593
15	Renal Fanconi syndrome (HP:0001994)	3.56350102
16	Increased intramyocellular lipid droplets (HP:0012240)	3.52043008
17	Reticulocytopenia (HP:0001896)	3.41900812
18	Exertional dyspnea (HP:0002875)	3.27684132
19	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.25919376
20	Abnormal rod and cone electroretinograms (HP:0008323)	3.19300621
21	Increased serum lactate (HP:0002151)	3.14670534
22	Abnormality of cells of the erythroid lineage (HP:0012130)	3.13116735
23	Macrocytic anemia (HP:0001972)	3.08662730
24	3-Methylglutaconic aciduria (HP:0003535)	3.03689412
25	Optic disc pallor (HP:0000543)	3.03685650
26	Increased muscle lipid content (HP:0009058)	3.01318768
27	Lactic acidosis (HP:0003128)	2.82213284
28	Abnormal number of erythroid precursors (HP:0012131)	2.75674505
29	Respiratory failure (HP:0002878)	2.74569301
30	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.72645540
31	Molar tooth sign on MRI (HP:0002419)	2.72361286
32	Abnormality of midbrain morphology (HP:0002418)	2.72361286
33	Pendular nystagmus (HP:0012043)	2.68293976
34	Leukodystrophy (HP:0002415)	2.63658850
35	Pallor (HP:0000980)	2.63599909
36	Exercise intolerance (HP:0003546)	2.60805192
37	Pancreatic cysts (HP:0001737)	2.58140967
38	Lethargy (HP:0001254)	2.52537754
39	Congenital stationary night blindness (HP:0007642)	2.51612350
40	Type II lissencephaly (HP:0007260)	2.50984806
41	Respiratory difficulties (HP:0002880)	2.48489497
42	Decreased central vision (HP:0007663)	2.47981350
43	Pancreatic fibrosis (HP:0100732)	2.41699722
44	Hyperglycinemia (HP:0002154)	2.39794704
45	Type 2 muscle fiber atrophy (HP:0003554)	2.38343489
46	True hermaphroditism (HP:0010459)	2.31620872
47	Abolished electroretinogram (ERG) (HP:0000550)	2.28670569
48	Nephronophthisis (HP:0000090)	2.26849513
49	Abnormality of renal resorption (HP:0011038)	2.21318064
50	Muscle fiber atrophy (HP:0100295)	2.20552164
51	Aplastic anemia (HP:0001915)	2.19442429
52	Attenuation of retinal blood vessels (HP:0007843)	2.18325157
53	Constricted visual fields (HP:0001133)	2.13914129
54	CNS demyelination (HP:0007305)	2.12230297
55	Glycosuria (HP:0003076)	2.07277688
56	Abnormality of urine glucose concentration (HP:0011016)	2.07277688
57	Elevated erythrocyte sedimentation rate (HP:0003565)	2.05840490
58	Abnormality of DNA repair (HP:0003254)	2.05015359
59	IgG deficiency (HP:0004315)	2.04763016
60	Hyperphosphaturia (HP:0003109)	2.00979010
61	Absent thumb (HP:0009777)	1.98916604
62	Methylmalonic acidemia (HP:0002912)	1.97055674
63	Methylmalonic aciduria (HP:0012120)	1.91624373
64	Dyschromatopsia (HP:0007641)	1.89974891
65	Medial flaring of the eyebrow (HP:0010747)	1.89209136
66	X-linked dominant inheritance (HP:0001423)	1.88762912
67	Colon cancer (HP:0003003)	1.86848323
68	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.85274436
69	Hypoproteinemia (HP:0003075)	1.82443374
70	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.81440077
71	Triphalangeal thumb (HP:0001199)	1.80404243
72	Myokymia (HP:0002411)	1.79513942
73	Emotional lability (HP:0000712)	1.79406945
74	Severe combined immunodeficiency (HP:0004430)	1.79261802
75	Keratoconus (HP:0000563)	1.78089142
76	Increased corneal curvature (HP:0100692)	1.78089142
77	Testicular atrophy (HP:0000029)	1.76398200
78	Blindness (HP:0000618)	1.75864745
79	Cerebellar dysplasia (HP:0007033)	1.75835980
80	Cerebral hypomyelination (HP:0006808)	1.75695412
81	Chronic hepatic failure (HP:0100626)	1.74063973
82	Abnormality of the renal medulla (HP:0100957)	1.73469630
83	Hypoplasia of the pons (HP:0012110)	1.72527079
84	Sclerocornea (HP:0000647)	1.71862707
85	Cleft eyelid (HP:0000625)	1.70459494
86	Stenosis of the external auditory canal (HP:0000402)	1.68366990
87	Asplenia (HP:0001746)	1.67829079
88	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.67726649
89	Dicarboxylic aciduria (HP:0003215)	1.67726649
90	Abnormality of the pons (HP:0007361)	1.66658195
91	Polyuria (HP:0000103)	1.65475791
92	Abnormal drinking behavior (HP:0030082)	1.63727940
93	Polydipsia (HP:0001959)	1.63727940
94	Abnormality of B cell number (HP:0010975)	1.62134288
95	Abnormality of the renal cortex (HP:0011035)	1.62095972
96	Abnormality of the labia minora (HP:0012880)	1.60467693
97	CNS hypomyelination (HP:0003429)	1.60364430
98	Abnormality of alanine metabolism (HP:0010916)	1.59508360
99	Hyperalaninemia (HP:0003348)	1.59508360
100	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.59508360

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ZAK	3.11157747
2	CDK19	2.95674429
3	NME2	2.86720409
4	BCKDK	2.74309156
5	TAOK3	2.59947349
6	VRK2	2.55971051
7	TLK1	2.51768967
8	STK16	2.50613618
9	NUAK1	2.44114267
10	MAP4K2	2.32097183
11	ADRBK2	2.29541284
12	MST4	2.25221213
13	GRK1	2.04081314
14	WNK4	1.85162692
15	TIE1	1.84560240
16	VRK1	1.61413989
17	INSRR	1.59097823
18	MAP3K12	1.57207339
19	NEK1	1.55990058
20	KDR	1.55510013
21	EIF2AK3	1.55417840
22	TXK	1.55325326
23	BMPR1B	1.55257944
24	DYRK2	1.49343971
25	OXSR1	1.47349609
26	TEC	1.40024082
27	WNK3	1.38264118
28	CDC7	1.36569366
29	PINK1	1.19197060
30	MAP4K1	1.16576426
31	CDK8	1.11450191
32	LIMK1	1.10608903
33	MAP3K11	1.09342794
34	FRK	1.06966491
35	PASK	1.05501095
36	DAPK1	0.93928705
37	KIT	0.93745205
38	AURKA	0.90096908
39	PLK4	0.88554663
40	PLK1	0.88283793
41	MAPKAPK5	0.86382987
42	TRIM28	0.85238742
43	SRPK1	0.85102052
44	CAMKK2	0.85092148
45	FES	0.83319341
46	MAP2K7	0.82796122
47	MYLK	0.81948483
48	PRKCQ	0.80335971
49	CSNK1G3	0.78688830
50	STK39	0.75919324
51	BUB1	0.75649922
52	ATR	0.74115232
53	RPS6KA5	0.74020976
54	MAPKAPK3	0.73822460
55	MAPK13	0.73614111
56	CSNK2A2	0.72203890
57	DAPK3	0.71051704
58	ABL2	0.70937864
59	DAPK2	0.70857795
60	ITK	0.69798274
61	SCYL2	0.67787253
62	CSNK1G2	0.66633897
63	MAP3K4	0.66137232
64	PLK3	0.64139815
65	STK3	0.63790574
66	MAP2K6	0.63715200
67	CSNK2A1	0.63188912
68	IKBKB	0.63146964
69	SYK	0.61740532
70	MATK	0.60638370
71	CASK	0.58072715
72	NEK2	0.54791817
73	PRKCG	0.54751705
74	PRKACA	0.54245022
75	ADRBK1	0.54150012
76	TNK2	0.53502051
77	OBSCN	0.53218972
78	AURKB	0.53185376
79	FLT3	0.51211284
80	PIK3CA	0.50493256
81	CSNK1A1L	0.50384543
82	GRK6	0.49212386
83	TESK2	0.49183599
84	CSNK1G1	0.49094862
85	PBK	0.49056401
86	PHKG1	0.48156068
87	PHKG2	0.48156068
88	TGFBR1	0.47408607
89	ILK	0.47137070
90	CSNK1A1	0.44337246
91	PRKCA	0.43666664
92	PDK2	0.42862042
93	LRRK2	0.42669067
94	MARK3	0.42538261
95	NME1	0.42345445
96	MKNK1	0.41374673
97	PIM1	0.40752664
98	MINK1	0.39658282
99	LYN	0.39536090
100	CHEK2	0.38526083

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	4.74832295
2	Oxidative phosphorylation_Homo sapiens_hsa00190	4.14663798
3	Parkinsons disease_Homo sapiens_hsa05012	3.50369955
4	Proteasome_Homo sapiens_hsa03050	3.32026978
5	Asthma_Homo sapiens_hsa05310	2.85052843
6	RNA polymerase_Homo sapiens_hsa03020	2.74858045
7	Protein export_Homo sapiens_hsa03060	2.67548486
8	Huntingtons disease_Homo sapiens_hsa05016	2.35531094
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.27209780
10	Alzheimers disease_Homo sapiens_hsa05010	2.25698407
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.21343212
12	Allograft rejection_Homo sapiens_hsa05330	2.11831453
13	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.03189358
14	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.01620852
15	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.97077727
16	Graft-versus-host disease_Homo sapiens_hsa05332	1.84760573
17	Type I diabetes mellitus_Homo sapiens_hsa04940	1.75105985
18	Cardiac muscle contraction_Homo sapiens_hsa04260	1.70071707
19	Homologous recombination_Homo sapiens_hsa03440	1.64555046
20	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.62177960
21	RNA degradation_Homo sapiens_hsa03018	1.56223010
22	Pyrimidine metabolism_Homo sapiens_hsa00240	1.53314401
23	One carbon pool by folate_Homo sapiens_hsa00670	1.46779075
24	DNA replication_Homo sapiens_hsa03030	1.44466364
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.33170113
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.31925808
27	Mismatch repair_Homo sapiens_hsa03430	1.28164315
28	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.27215312
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.23367777
30	Fanconi anemia pathway_Homo sapiens_hsa03460	1.20246323
31	Caffeine metabolism_Homo sapiens_hsa00232	1.20209296
32	Base excision repair_Homo sapiens_hsa03410	1.17874387
33	Primary immunodeficiency_Homo sapiens_hsa05340	1.16433371
34	Basal transcription factors_Homo sapiens_hsa03022	1.16151930
35	Phototransduction_Homo sapiens_hsa04744	1.11886788
36	Nucleotide excision repair_Homo sapiens_hsa03420	1.10874293
37	Antigen processing and presentation_Homo sapiens_hsa04612	1.08427966
38	Tryptophan metabolism_Homo sapiens_hsa00380	1.07745768
39	Butanoate metabolism_Homo sapiens_hsa00650	1.01105696
40	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.00775204
41	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.00239338
42	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.96212983
43	Purine metabolism_Homo sapiens_hsa00230	0.95737782
44	Propanoate metabolism_Homo sapiens_hsa00640	0.94344065
45	Rheumatoid arthritis_Homo sapiens_hsa05323	0.92706155
46	Sulfur relay system_Homo sapiens_hsa04122	0.92379943
47	Peroxisome_Homo sapiens_hsa04146	0.91723337
48	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.90072896
49	Spliceosome_Homo sapiens_hsa03040	0.89354705
50	RNA transport_Homo sapiens_hsa03013	0.88912668
51	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82693322
52	Collecting duct acid secretion_Homo sapiens_hsa04966	0.81859544
53	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.80131249
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.77071659
55	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.74995398
56	Non-homologous end-joining_Homo sapiens_hsa03450	0.73740253
57	Fatty acid elongation_Homo sapiens_hsa00062	0.73700777
58	Metabolic pathways_Homo sapiens_hsa01100	0.73078001
59	Folate biosynthesis_Homo sapiens_hsa00790	0.71096713
60	Regulation of autophagy_Homo sapiens_hsa04140	0.70189850
61	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.69626444
62	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.69501723
63	Chemical carcinogenesis_Homo sapiens_hsa05204	0.69086412
64	Nitrogen metabolism_Homo sapiens_hsa00910	0.65411908
65	Olfactory transduction_Homo sapiens_hsa04740	0.64957483
66	Viral myocarditis_Homo sapiens_hsa05416	0.62960835
67	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.62282477
68	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.61294751
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.60409649
70	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.60371565
71	Retinol metabolism_Homo sapiens_hsa00830	0.60236350
72	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.59484244
73	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.58934240
74	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.56952593
75	Fatty acid degradation_Homo sapiens_hsa00071	0.54277655
76	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.51949116
77	Fat digestion and absorption_Homo sapiens_hsa04975	0.50568417
78	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.50252052
79	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.49095260
80	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.48929130
81	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.47652092
82	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.46094838
83	Ether lipid metabolism_Homo sapiens_hsa00565	0.45339731
84	Steroid biosynthesis_Homo sapiens_hsa00100	0.45333813
85	Glutathione metabolism_Homo sapiens_hsa00480	0.43733433
86	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.43201385
87	Nicotine addiction_Homo sapiens_hsa05033	0.42813559
88	Pyruvate metabolism_Homo sapiens_hsa00620	0.42722376
89	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40440194
90	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.40245520
91	beta-Alanine metabolism_Homo sapiens_hsa00410	0.39921052
92	Sulfur metabolism_Homo sapiens_hsa00920	0.35440297
93	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.33640247
94	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.32181521
95	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.24590314
96	Glycerolipid metabolism_Homo sapiens_hsa00561	0.22176229
97	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.21276264
98	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.20698526
99	Leishmaniasis_Homo sapiens_hsa05140	0.19964751
100	Herpes simplex infection_Homo sapiens_hsa05168	0.17409483

EEF1B2P6

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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