ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA deamination (GO:0045006)	5.45685897
2	ribosomal small subunit assembly (GO:0000028)	4.84400973
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.39545098
4	ATP synthesis coupled proton transport (GO:0015986)	4.37199815
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.37199815
6	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	4.35594626
7	proteasome assembly (GO:0043248)	3.92322832
8	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.82064469
9	cytidine metabolic process (GO:0046087)	3.79056562
10	cytidine catabolic process (GO:0006216)	3.79056562
11	cytidine deamination (GO:0009972)	3.79056562
12	ribosomal large subunit biogenesis (GO:0042273)	3.55283064
13	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.52291646
14	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.52291646
15	water-soluble vitamin biosynthetic process (GO:0042364)	3.52131304
16	cullin deneddylation (GO:0010388)	3.46481891
17	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.37231639
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.36813513
19	protein deneddylation (GO:0000338)	3.36572992
20	protein complex biogenesis (GO:0070271)	3.30988249
21	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.28522540
22	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.28464125
23	platelet dense granule organization (GO:0060155)	3.26717098
24	viral transcription (GO:0019083)	3.25852597
25	response to pheromone (GO:0019236)	3.20730891
26	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.20336374
27	translational termination (GO:0006415)	3.17854952
28	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.16914199
29	NADH dehydrogenase complex assembly (GO:0010257)	3.16914199
30	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.16914199
31	termination of RNA polymerase III transcription (GO:0006386)	3.16213025
32	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.16213025
33	cotranslational protein targeting to membrane (GO:0006613)	3.14317057
34	maturation of SSU-rRNA (GO:0030490)	3.11524330
35	mitochondrial respiratory chain complex assembly (GO:0033108)	3.10492438
36	protein targeting to ER (GO:0045047)	3.10309900
37	translational elongation (GO:0006414)	3.08606873
38	regulation of cellular amino acid metabolic process (GO:0006521)	3.04634265
39	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.02516633
40	respiratory electron transport chain (GO:0022904)	3.02219986
41	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.02101666
42	electron transport chain (GO:0022900)	3.01401221
43	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	3.00075303
44	protein localization to endoplasmic reticulum (GO:0070972)	2.97127620
45	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.95076398
46	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.95076398
47	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.95076398
48	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.94128710
49	respiratory chain complex IV assembly (GO:0008535)	2.93993786
50	piRNA metabolic process (GO:0034587)	2.92061658
51	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.89153866
52	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.89153866
53	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.85305043
54	translation (GO:0006412)	2.84428282
55	mannosylation (GO:0097502)	2.83545959
56	rRNA modification (GO:0000154)	2.83376754
57	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.80866917
58	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.80866917
59	positive regulation of defense response to virus by host (GO:0002230)	2.80508054
60	pseudouridine synthesis (GO:0001522)	2.78689715
61	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.77066868
62	metallo-sulfur cluster assembly (GO:0031163)	2.72046423
63	iron-sulfur cluster assembly (GO:0016226)	2.72046423
64	protein neddylation (GO:0045116)	2.71919896
65	behavioral response to nicotine (GO:0035095)	2.69778620
66	translational initiation (GO:0006413)	2.69718371
67	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.69650203
68	protein-cofactor linkage (GO:0018065)	2.68853219
69	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.67587816
70	isotype switching (GO:0045190)	2.67587816
71	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.67587816
72	maturation of 5.8S rRNA (GO:0000460)	2.65896530
73	ubiquinone biosynthetic process (GO:0006744)	2.65295801
74	cytochrome complex assembly (GO:0017004)	2.64187004
75	negative regulation of ligase activity (GO:0051352)	2.63755167
76	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.63755167
77	GTP biosynthetic process (GO:0006183)	2.63448980
78	GPI anchor metabolic process (GO:0006505)	2.63301656
79	chaperone-mediated protein transport (GO:0072321)	2.59323612
80	tRNA processing (GO:0008033)	2.56949416
81	rRNA catabolic process (GO:0016075)	2.56901754
82	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.56330032
83	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.55229151
84	regulation of regulatory T cell differentiation (GO:0045589)	2.54441287
85	regulation of mitotic spindle checkpoint (GO:1903504)	2.53115126
86	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.53115126
87	L-fucose catabolic process (GO:0042355)	2.53102642
88	fucose catabolic process (GO:0019317)	2.53102642
89	L-fucose metabolic process (GO:0042354)	2.53102642
90	GPI anchor biosynthetic process (GO:0006506)	2.52543732
91	negative regulation by host of viral transcription (GO:0043922)	2.49229601
92	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.48814928
93	positive regulation of alpha-beta T cell proliferation (GO:0046641)	2.48809535
94	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.47987094
95	synapsis (GO:0007129)	2.47102373
96	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.45588071
97	DNA double-strand break processing (GO:0000729)	2.45339494
98	ubiquinone metabolic process (GO:0006743)	2.45067146
99	rRNA metabolic process (GO:0016072)	2.45020134
100	rRNA processing (GO:0006364)	2.44854327

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.21008061
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.12399262
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.50990565
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.20694352
5	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.13779079
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.05436061
7	VDR_22108803_ChIP-Seq_LS180_Human	2.90063963
8	VDR_23849224_ChIP-Seq_CD4+_Human	2.79901192
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.79889835
10	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.73994985
11	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.61793475
12	ELK1_19687146_ChIP-ChIP_HELA_Human	2.51798473
13	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.39705039
14	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.28174238
15	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.27896099
16	FOXP3_21729870_ChIP-Seq_TREG_Human	2.27081149
17	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.21518335
18	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.20304273
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.16480320
20	IGF1R_20145208_ChIP-Seq_DFB_Human	2.15054623
21	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.11130217
22	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.10131397
23	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.06930487
24	EWS_26573619_Chip-Seq_HEK293_Human	2.04801213
25	MYC_18940864_ChIP-ChIP_HL60_Human	2.00029728
26	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.91970695
27	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.89640534
28	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.83745060
29	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.76473274
30	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.72333227
31	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.70328170
32	FUS_26573619_Chip-Seq_HEK293_Human	1.69909325
33	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.66480798
34	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.62269071
35	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.55086221
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.51973309
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.51602022
38	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.50966378
39	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.49304584
40	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.42730656
41	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.42730656
42	IRF1_19129219_ChIP-ChIP_H3396_Human	1.41113985
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.39589655
44	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.37358335
45	AR_20517297_ChIP-Seq_VCAP_Human	1.36564632
46	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.35869657
47	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.35083774
48	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.35054671
49	TTF2_22483619_ChIP-Seq_HELA_Human	1.32831052
50	GATA3_26560356_Chip-Seq_TH2_Human	1.30359216
51	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.29641692
52	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.29430374
53	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.25996283
54	P300_19829295_ChIP-Seq_ESCs_Human	1.24587692
55	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.23595933
56	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.23243848
57	ER_23166858_ChIP-Seq_MCF-7_Human	1.22469836
58	MYB_26560356_Chip-Seq_TH2_Human	1.21899707
59	TAF15_26573619_Chip-Seq_HEK293_Human	1.19494136
60	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.19043717
61	SOX2_19829295_ChIP-Seq_ESCs_Human	1.18955297
62	NANOG_19829295_ChIP-Seq_ESCs_Human	1.18955297
63	DCP1A_22483619_ChIP-Seq_HELA_Human	1.16063138
64	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.15616686
65	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.13978820
66	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.13331972
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.12995293
68	CBP_20019798_ChIP-Seq_JUKART_Human	1.12788830
69	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.12788830
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.11908893
71	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.11366432
72	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.10872560
73	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.10807907
74	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.10623229
75	NCOR_22424771_ChIP-Seq_293T_Human	1.08256230
76	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.07881966
77	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.07179339
78	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.06404912
79	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.05569284
80	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.04653283
81	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.03737355
82	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.03179591
83	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.02994737
84	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.02045760
85	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.99820967
86	GABP_19822575_ChIP-Seq_HepG2_Human	0.99350693
87	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.98375512
88	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.98088945
89	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.97866462
90	ERG_20517297_ChIP-Seq_VCAP_Human	0.97848903
91	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.97841260
92	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.94741532
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.94208441
94	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.92808081
95	BCAT_22108803_ChIP-Seq_LS180_Human	0.92184355
96	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.91269845
97	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.89677530
98	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.88114412
99	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.88010418
100	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.87872109

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005671_abnormal_response_to	3.80121775
2	MP0001835_abnormal_antigen_presentation	2.78586198
3	MP0002102_abnormal_ear_morphology	2.67005935
4	MP0008058_abnormal_DNA_repair	2.46849776
5	MP0008877_abnormal_DNA_methylation	2.41180933
6	MP0006072_abnormal_retinal_apoptosis	2.33732293
7	MP0005084_abnormal_gallbladder_morpholo	2.23982417
8	MP0006292_abnormal_olfactory_placode	2.06826239
9	MP0002166_altered_tumor_susceptibility	2.01417209
10	MP0003806_abnormal_nucleotide_metabolis	2.01042538
11	MP0005645_abnormal_hypothalamus_physiol	2.00969681
12	MP0004147_increased_porphyrin_level	1.91885155
13	MP0005075_abnormal_melanosome_morpholog	1.91657855
14	MP0005377_hearing/vestibular/ear_phenot	1.86732499
15	MP0003878_abnormal_ear_physiology	1.86732499
16	MP0000372_irregular_coat_pigmentation	1.85860801
17	MP0008872_abnormal_physiological_respon	1.85848017
18	MP0008875_abnormal_xenobiotic_pharmacok	1.82729989
19	MP0009785_altered_susceptibility_to	1.81245079
20	MP0002006_tumorigenesis	1.80949711
21	MP0009379_abnormal_foot_pigmentation	1.79475730
22	MP0003786_premature_aging	1.77454354
23	MP0002148_abnormal_hypersensitivity_rea	1.70096152
24	MP0001800_abnormal_humoral_immune	1.67116776
25	MP0002138_abnormal_hepatobiliary_system	1.63868700
26	MP0001873_stomach_inflammation	1.61581640
27	MP0005551_abnormal_eye_electrophysiolog	1.55141033
28	MP0005000_abnormal_immune_tolerance	1.53636187
29	MP0003011_delayed_dark_adaptation	1.51505927
30	MP0002736_abnormal_nociception_after	1.49474987
31	MP0003763_abnormal_thymus_physiology	1.48156403
32	MP0001986_abnormal_taste_sensitivity	1.47768274
33	MP0009333_abnormal_splenocyte_physiolog	1.47417453
34	MP0003195_calcinosis	1.46672931
35	MP0004885_abnormal_endolymph	1.46097320
36	MP0008995_early_reproductive_senescence	1.45903422
37	MP0000685_abnormal_immune_system	1.43342448
38	MP0005389_reproductive_system_phenotype	1.43044887
39	MP0005253_abnormal_eye_physiology	1.42711953
40	MP0002160_abnormal_reproductive_system	1.40043178
41	MP0005646_abnormal_pituitary_gland	1.37507242
42	MP0001968_abnormal_touch/_nociception	1.36035750
43	MP0002723_abnormal_immune_serum	1.32540172
44	MP0001764_abnormal_homeostasis	1.31451913
45	MP0005387_immune_system_phenotype	1.30622392
46	MP0001790_abnormal_immune_system	1.30622392
47	MP0003718_maternal_effect	1.27652265
48	MP0001529_abnormal_vocalization	1.26678065
49	MP0004142_abnormal_muscle_tone	1.25557724
50	MP0002876_abnormal_thyroid_physiology	1.23149682
51	MP0002420_abnormal_adaptive_immunity	1.22806298
52	MP0005360_urolithiasis	1.22248880
53	MP0001819_abnormal_immune_cell	1.21049811
54	MP0002163_abnormal_gland_morphology	1.20370198
55	MP0002277_abnormal_respiratory_mucosa	1.18373204
56	MP0004145_abnormal_muscle_electrophysio	1.17815941
57	MP0009697_abnormal_copulation	1.15486754
58	MP0010094_abnormal_chromosome_stability	1.15232142
59	MP0001919_abnormal_reproductive_system	1.14807230
60	MP0002452_abnormal_antigen_presenting	1.14716830
61	MP0002837_dystrophic_cardiac_calcinosis	1.09346903
62	MP0010155_abnormal_intestine_physiology	1.08975176
63	MP0003866_abnormal_defecation	1.08575567
64	MP0006036_abnormal_mitochondrial_physio	1.05549000
65	MP0001485_abnormal_pinna_reflex	1.03430407
66	MP0001905_abnormal_dopamine_level	1.02936209
67	MP0003646_muscle_fatigue	1.00466609
68	MP0002095_abnormal_skin_pigmentation	1.00154963
69	MP0009764_decreased_sensitivity_to	0.99905532
70	MP0002398_abnormal_bone_marrow	0.99074992
71	MP0002234_abnormal_pharynx_morphology	0.97798315
72	MP0000689_abnormal_spleen_morphology	0.97658336
73	MP0003252_abnormal_bile_duct	0.96781766
74	MP0000716_abnormal_immune_system	0.95634822
75	MP0003283_abnormal_digestive_organ	0.93859729
76	MP0002938_white_spotting	0.93428983
77	MP0002638_abnormal_pupillary_reflex	0.92388637
78	MP0003693_abnormal_embryo_hatching	0.91784678
79	MP0005025_abnormal_response_to	0.91178965
80	MP0003724_increased_susceptibility_to	0.89251778
81	MP0002405_respiratory_system_inflammati	0.88419036
82	MP0001845_abnormal_inflammatory_respons	0.88205383
83	MP0001929_abnormal_gametogenesis	0.88008398
84	MP0005636_abnormal_mineral_homeostasis	0.85817364
85	MP0005379_endocrine/exocrine_gland_phen	0.85352074
86	MP0001119_abnormal_female_reproductive	0.84870721
87	MP0003186_abnormal_redox_activity	0.84646462
88	MP0005410_abnormal_fertilization	0.82183636
89	MP0003567_abnormal_fetal_cardiomyocyte	0.81725544
90	MP0002210_abnormal_sex_determination	0.81287181
91	MP0000631_abnormal_neuroendocrine_gland	0.80457991
92	MP0002693_abnormal_pancreas_physiology	0.78887603
93	MP0005085_abnormal_gallbladder_physiolo	0.78668984
94	MP0005332_abnormal_amino_acid	0.78536849
95	MP0000703_abnormal_thymus_morphology	0.77828998
96	MP0002722_abnormal_immune_system	0.77800872
97	MP0004957_abnormal_blastocyst_morpholog	0.77040905
98	MP0006035_abnormal_mitochondrial_morpho	0.76654580
99	MP0006276_abnormal_autonomic_nervous	0.76303958
100	MP0002429_abnormal_blood_cell	0.76212124

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	3.89315106
2	Mitochondrial inheritance (HP:0001427)	3.74197750
3	Increased CSF lactate (HP:0002490)	3.54677013
4	Congenital stationary night blindness (HP:0007642)	3.53414872
5	Abnormal mitochondria in muscle tissue (HP:0008316)	3.37013916
6	Acute encephalopathy (HP:0006846)	3.36377760
7	IgG deficiency (HP:0004315)	3.32125550
8	Progressive macrocephaly (HP:0004481)	3.31392427
9	Increased hepatocellular lipid droplets (HP:0006565)	3.31087249
10	3-Methylglutaconic aciduria (HP:0003535)	3.24695820
11	Hepatocellular necrosis (HP:0001404)	3.20778623
12	Severe combined immunodeficiency (HP:0004430)	3.17116496
13	Hepatic necrosis (HP:0002605)	3.09779992
14	Pancreatic cysts (HP:0001737)	3.09693016
15	Lipid accumulation in hepatocytes (HP:0006561)	3.05140970
16	Abnormality of B cell number (HP:0010975)	2.96644599
17	Aplastic anemia (HP:0001915)	2.94070241
18	Methylmalonic acidemia (HP:0002912)	2.84095154
19	Hypoproteinemia (HP:0003075)	2.83732817
20	Cerebral edema (HP:0002181)	2.83202202
21	Elevated erythrocyte sedimentation rate (HP:0003565)	2.79609464
22	Thyroiditis (HP:0100646)	2.77843539
23	Abolished electroretinogram (ERG) (HP:0000550)	2.77440100
24	Congenital, generalized hypertrichosis (HP:0004540)	2.77004678
25	B lymphocytopenia (HP:0010976)	2.69712333
26	Optic disc pallor (HP:0000543)	2.63095606
27	Increased serum lactate (HP:0002151)	2.62301079
28	Attenuation of retinal blood vessels (HP:0007843)	2.62147203
29	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.61747015
30	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.58953128
31	Renal Fanconi syndrome (HP:0001994)	2.58338537
32	True hermaphroditism (HP:0010459)	2.57308227
33	Renal cortical cysts (HP:0000803)	2.55626993
34	Abnormal number of erythroid precursors (HP:0012131)	2.55121172
35	Abnormality of the renal cortex (HP:0011035)	2.54466856
36	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.54358819
37	Abnormal rod and cone electroretinograms (HP:0008323)	2.49540512
38	Combined immunodeficiency (HP:0005387)	2.48425397
39	Type I transferrin isoform profile (HP:0003642)	2.48135737
40	Abnormality of midbrain morphology (HP:0002418)	2.46062924
41	Molar tooth sign on MRI (HP:0002419)	2.46062924
42	Lactic acidosis (HP:0003128)	2.43122536
43	Methylmalonic aciduria (HP:0012120)	2.40946946
44	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.37864791
45	Increased intramyocellular lipid droplets (HP:0012240)	2.37630408
46	Pancreatic fibrosis (HP:0100732)	2.36433302
47	Abnormality of cells of the erythroid lineage (HP:0012130)	2.33938793
48	Nephronophthisis (HP:0000090)	2.32804916
49	Abnormality of the prostate (HP:0008775)	2.30591124
50	Stomatitis (HP:0010280)	2.30051327
51	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.27009914
52	Abnormality of T cell number (HP:0011839)	2.23930773
53	Type II lissencephaly (HP:0007260)	2.21510021
54	Exertional dyspnea (HP:0002875)	2.20187340
55	T lymphocytopenia (HP:0005403)	2.18691604
56	Abnormality of urine glucose concentration (HP:0011016)	2.16979479
57	Glycosuria (HP:0003076)	2.16979479
58	Lethargy (HP:0001254)	2.16469735
59	Colon cancer (HP:0003003)	2.16336406
60	Abnormal protein glycosylation (HP:0012346)	2.15962219
61	Abnormal glycosylation (HP:0012345)	2.15962219
62	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.15962219
63	Abnormal protein N-linked glycosylation (HP:0012347)	2.15962219
64	Panhypogammaglobulinemia (HP:0003139)	2.13325766
65	Constricted visual fields (HP:0001133)	2.12410358
66	Reticulocytopenia (HP:0001896)	2.10214135
67	Decreased central vision (HP:0007663)	2.08174930
68	Pancytopenia (HP:0001876)	2.05537442
69	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.02592170
70	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.02592170
71	Abnormality of T cells (HP:0002843)	2.02288060
72	Abnormality of the renal medulla (HP:0100957)	2.01998616
73	Abnormality of eosinophils (HP:0001879)	2.00063589
74	Aplasia/hypoplasia of the uterus (HP:0008684)	1.99309626
75	Respiratory failure (HP:0002878)	1.97240590
76	Macrocytic anemia (HP:0001972)	1.96068386
77	Dicarboxylic aciduria (HP:0003215)	1.94761406
78	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.94761406
79	Medial flaring of the eyebrow (HP:0010747)	1.94343989
80	Type 2 muscle fiber atrophy (HP:0003554)	1.93960775
81	Hyperglycinemia (HP:0002154)	1.92873051
82	Generalized aminoaciduria (HP:0002909)	1.92621172
83	Oral leukoplakia (HP:0002745)	1.92507655
84	Pendular nystagmus (HP:0012043)	1.89186629
85	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.88908976
86	Hypothermia (HP:0002045)	1.88255259
87	Increased muscle lipid content (HP:0009058)	1.87650987
88	Absent thumb (HP:0009777)	1.84797947
89	Abnormality of serum amino acid levels (HP:0003112)	1.84344872
90	Abnormality of vitamin B metabolism (HP:0004340)	1.83915433
91	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.82793633
92	Abnormality of alanine metabolism (HP:0010916)	1.82695231
93	Hyperalaninemia (HP:0003348)	1.82695231
94	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.82695231
95	Abnormality of DNA repair (HP:0003254)	1.78869231
96	Reduced antithrombin III activity (HP:0001976)	1.78857122
97	Abnormality of the phalanges of the 5th finger (HP:0004213)	1.74080062
98	Leukodystrophy (HP:0002415)	1.72544381
99	Abnormality of methionine metabolism (HP:0010901)	1.72246021
100	Hyperglycinuria (HP:0003108)	1.71675282

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ZAK	3.66673920
2	TXK	3.42977197
3	MAP4K2	3.06074253
4	BCKDK	3.01809131
5	TLK1	2.98061158
6	VRK2	2.82385554
7	NUAK1	2.67248167
8	EIF2AK3	2.45217863
9	TAOK3	2.42394722
10	ADRBK2	2.27919481
11	CDK19	2.21122470
12	VRK1	2.15997325
13	PASK	2.14579531
14	FRK	2.12356815
15	GRK1	1.99691179
16	MST4	1.78925206
17	KDR	1.78091956
18	BMPR1B	1.49456214
19	BUB1	1.43459411
20	TESK2	1.42688550
21	STK16	1.35259622
22	WNK4	1.29778201
23	TEC	1.29692135
24	TSSK6	1.21546330
25	ITK	1.21466166
26	MAP4K1	1.19512010
27	KIT	1.17345236
28	MAP3K12	1.15344805
29	FES	1.15276909
30	TRIM28	1.12349661
31	WNK3	1.11487232
32	INSRR	1.10367535
33	OXSR1	1.09371121
34	PINK1	1.05179949
35	SRPK1	1.04631374
36	PLK3	1.03845974
37	MKNK1	1.02531040
38	TIE1	1.01909747
39	GRK6	1.01744690
40	TGFBR1	1.00647510
41	SYK	0.99045949
42	NEK1	0.96326706
43	IKBKB	0.95380294
44	TAF1	0.94868044
45	BMPR2	0.93922670
46	STK39	0.92778321
47	RPS6KA5	0.90412744
48	RPS6KA4	0.88374195
49	SCYL2	0.88306815
50	WEE1	0.86976172
51	CSNK1G1	0.80878854
52	PBK	0.79718354
53	CSNK1G3	0.78603584
54	ERBB3	0.72683451
55	PRKCQ	0.70708739
56	NLK	0.69028178
57	CSNK1G2	0.68028353
58	ACVR1B	0.67607935
59	DYRK2	0.66770298
60	PLK4	0.66675477
61	LYN	0.66562418
62	NME1	0.65852446
63	BRSK2	0.65662856
64	IKBKE	0.64390984
65	EIF2AK2	0.63684440
66	MUSK	0.63455737
67	DAPK1	0.63225256
68	LCK	0.62796486
69	ADRBK1	0.61538577
70	MAP2K6	0.60160319
71	CSF1R	0.58782166
72	MAPKAPK5	0.57844897
73	MKNK2	0.57168576
74	MYLK	0.56910917
75	ATR	0.54903880
76	MAP3K4	0.53842969
77	PRKCE	0.53758489
78	FLT3	0.53758389
79	CDC7	0.52634927
80	CAMKK2	0.51661631
81	PIK3CG	0.51496299
82	MAPKAPK3	0.49917845
83	TNIK	0.49774704
84	PLK1	0.48834109
85	BTK	0.48671070
86	MAPK13	0.48669742
87	CDK8	0.48424494
88	IGF1R	0.47388731
89	CSNK2A1	0.44406151
90	CSNK1A1L	0.44089883
91	AURKB	0.42521006
92	CCNB1	0.42094713
93	PDK2	0.41114330
94	GRK7	0.40580431
95	CSNK2A2	0.38986006
96	PLK2	0.37958299
97	PIM1	0.36621101
98	MAP2K2	0.34888281
99	LIMK1	0.34318088
100	CDK3	0.33010103

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.70569743
2	Ribosome_Homo sapiens_hsa03010	3.17977851
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.98153787
4	Asthma_Homo sapiens_hsa05310	2.77171047
5	Protein export_Homo sapiens_hsa03060	2.64254773
6	Primary immunodeficiency_Homo sapiens_hsa05340	2.60677708
7	Allograft rejection_Homo sapiens_hsa05330	2.53600859
8	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.47088722
9	Parkinsons disease_Homo sapiens_hsa05012	2.44437355
10	RNA polymerase_Homo sapiens_hsa03020	2.40243256
11	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.38431159
12	Graft-versus-host disease_Homo sapiens_hsa05332	2.24712064
13	Type I diabetes mellitus_Homo sapiens_hsa04940	2.17280729
14	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.86086705
15	Antigen processing and presentation_Homo sapiens_hsa04612	1.77030477
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.72599312
17	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.72259678
18	Homologous recombination_Homo sapiens_hsa03440	1.71695499
19	RNA degradation_Homo sapiens_hsa03018	1.65146550
20	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.62692243
21	One carbon pool by folate_Homo sapiens_hsa00670	1.53197759
22	Huntingtons disease_Homo sapiens_hsa05016	1.50170753
23	Non-homologous end-joining_Homo sapiens_hsa03450	1.49934769
24	Phototransduction_Homo sapiens_hsa04744	1.49660995
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.43814934
26	Propanoate metabolism_Homo sapiens_hsa00640	1.43706901
27	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.41369965
28	Alzheimers disease_Homo sapiens_hsa05010	1.41341302
29	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.40617003
30	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.40093000
31	Mismatch repair_Homo sapiens_hsa03430	1.38569684
32	Linoleic acid metabolism_Homo sapiens_hsa00591	1.37509190
33	Basal transcription factors_Homo sapiens_hsa03022	1.33896057
34	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.28386490
35	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.27180565
36	Pyrimidine metabolism_Homo sapiens_hsa00240	1.23619247
37	Nitrogen metabolism_Homo sapiens_hsa00910	1.22799061
38	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.19116329
39	Rheumatoid arthritis_Homo sapiens_hsa05323	1.19053308
40	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.18725902
41	Caffeine metabolism_Homo sapiens_hsa00232	1.18296161
42	Spliceosome_Homo sapiens_hsa03040	1.18015472
43	Nucleotide excision repair_Homo sapiens_hsa03420	1.16969452
44	Butanoate metabolism_Homo sapiens_hsa00650	1.16157205
45	RNA transport_Homo sapiens_hsa03013	1.14216763
46	Purine metabolism_Homo sapiens_hsa00230	1.08293953
47	DNA replication_Homo sapiens_hsa03030	1.07665310
48	Selenocompound metabolism_Homo sapiens_hsa00450	1.00704299
49	Base excision repair_Homo sapiens_hsa03410	0.98533733
50	Tryptophan metabolism_Homo sapiens_hsa00380	0.97259268
51	Peroxisome_Homo sapiens_hsa04146	0.96261723
52	Cardiac muscle contraction_Homo sapiens_hsa04260	0.93720975
53	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.93240440
54	Sulfur metabolism_Homo sapiens_hsa00920	0.91439290
55	Fatty acid elongation_Homo sapiens_hsa00062	0.86359246
56	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.82752884
57	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.80943088
58	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.79939033
59	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.79625965
60	Chemical carcinogenesis_Homo sapiens_hsa05204	0.76811709
61	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.75811740
62	Ether lipid metabolism_Homo sapiens_hsa00565	0.71890663
63	Retinol metabolism_Homo sapiens_hsa00830	0.69899356
64	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.67685437
65	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.65631917
66	Regulation of autophagy_Homo sapiens_hsa04140	0.64981471
67	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.63928189
68	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.61938950
69	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.61457987
70	Viral myocarditis_Homo sapiens_hsa05416	0.58999523
71	Metabolic pathways_Homo sapiens_hsa01100	0.57925916
72	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.57384758
73	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.56245433
74	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.54419578
75	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.51855913
76	Glutathione metabolism_Homo sapiens_hsa00480	0.51819039
77	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.51341156
78	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.51113273
79	Olfactory transduction_Homo sapiens_hsa04740	0.50525602
80	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.50012325
81	Fat digestion and absorption_Homo sapiens_hsa04975	0.49882467
82	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.49567460
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.49045007
84	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.47658177
85	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.44970898
86	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.44522325
87	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.44130822
88	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.41591131
89	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.39997854
90	Steroid biosynthesis_Homo sapiens_hsa00100	0.38025209
91	Collecting duct acid secretion_Homo sapiens_hsa04966	0.37482504
92	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.37338698
93	Pyruvate metabolism_Homo sapiens_hsa00620	0.37103082
94	Herpes simplex infection_Homo sapiens_hsa05168	0.36979051
95	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.34205704
96	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.28714631
97	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.26942507
98	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.26206487
99	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.25179596
100	Taste transduction_Homo sapiens_hsa04742	0.23188675

EEF1A1P19

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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