ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	water-soluble vitamin biosynthetic process (GO:0042364)	4.65218220
2	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.59206973
3	DNA deamination (GO:0045006)	4.51205304
4	protein neddylation (GO:0045116)	4.40425179
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.32442269
6	ATP synthesis coupled proton transport (GO:0015986)	4.32442269
7	protein complex biogenesis (GO:0070271)	4.22080879
8	cytochrome complex assembly (GO:0017004)	4.03847016
9	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.02109129
10	respiratory chain complex IV assembly (GO:0008535)	3.89143659
11	platelet dense granule organization (GO:0060155)	3.83780375
12	mitochondrial respiratory chain complex assembly (GO:0033108)	3.82686788
13	electron transport chain (GO:0022900)	3.80253295
14	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.80199722
15	respiratory electron transport chain (GO:0022904)	3.79363236
16	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.47225660
17	termination of RNA polymerase III transcription (GO:0006386)	3.47225660
18	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.43355460
19	NADH dehydrogenase complex assembly (GO:0010257)	3.43355460
20	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.43355460
21	proteasome assembly (GO:0043248)	3.25153642
22	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	3.24711657
23	regulation of chronic inflammatory response (GO:0002676)	3.20671139
24	chaperone-mediated protein transport (GO:0072321)	3.19483365
25	protein-cofactor linkage (GO:0018065)	3.09853268
26	cellular response to zinc ion (GO:0071294)	3.05861863
27	regulation of mitochondrial translation (GO:0070129)	3.02673492
28	hydrogen ion transmembrane transport (GO:1902600)	3.01113188
29	purine nucleotide salvage (GO:0032261)	2.98516391
30	vitamin biosynthetic process (GO:0009110)	2.86232891
31	proton transport (GO:0015992)	2.84962413
32	regulation of oxidative phosphorylation (GO:0002082)	2.83795081
33	hydrogen transport (GO:0006818)	2.80568882
34	adenosine metabolic process (GO:0046085)	2.79635539
35	positive regulation of prostaglandin secretion (GO:0032308)	2.78531290
36	ATP hydrolysis coupled proton transport (GO:0015991)	2.77890146
37	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.77890146
38	xenobiotic catabolic process (GO:0042178)	2.74998103
39	negative regulation of inflammatory response to antigenic stimulus (GO:0002862)	2.71590009
40	neutrophil activation involved in immune response (GO:0002283)	2.70662351
41	mitochondrial calcium ion transport (GO:0006851)	2.66106464
42	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.64833912
43	rRNA modification (GO:0000154)	2.62961826
44	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.62608721
45	signal peptide processing (GO:0006465)	2.62454319
46	purine-containing compound salvage (GO:0043101)	2.60345497
47	positive regulation of defense response to virus by host (GO:0002230)	2.59482521
48	response to interferon-beta (GO:0035456)	2.59000845
49	mannosylation (GO:0097502)	2.58206660
50	cullin deneddylation (GO:0010388)	2.57845248
51	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.56240821
52	phagosome maturation (GO:0090382)	2.53983453
53	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.51682953
54	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.51682953
55	ATP biosynthetic process (GO:0006754)	2.51622140
56	regulation of regulatory T cell differentiation (GO:0045589)	2.51188735
57	C-terminal protein lipidation (GO:0006501)	2.50623232
58	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.50313279
59	protein deneddylation (GO:0000338)	2.50046041
60	eosinophil chemotaxis (GO:0048245)	2.48035049
61	cytidine metabolic process (GO:0046087)	2.46059205
62	cytidine catabolic process (GO:0006216)	2.46059205
63	cytidine deamination (GO:0009972)	2.46059205
64	regulation of inflammatory response to antigenic stimulus (GO:0002861)	2.44418019
65	preassembly of GPI anchor in ER membrane (GO:0016254)	2.42829461
66	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.42647590
67	rRNA methylation (GO:0031167)	2.42459403
68	oligosaccharide catabolic process (GO:0009313)	2.41852223
69	regulation of cellular amino acid metabolic process (GO:0006521)	2.41675744
70	protein targeting to mitochondrion (GO:0006626)	2.40641951
71	cellular ketone body metabolic process (GO:0046950)	2.40004406
72	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.39366719
73	inositol phosphate dephosphorylation (GO:0046855)	2.39366719
74	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.35587759
75	dopamine transport (GO:0015872)	2.34890393
76	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.34824483
77	autophagic vacuole fusion (GO:0000046)	2.34525302
78	negative regulation of membrane potential (GO:0045837)	2.34458028
79	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.32155522
80	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.31893503
81	mitochondrial calcium ion homeostasis (GO:0051560)	2.31726979
82	establishment of protein localization to mitochondrion (GO:0072655)	2.31420443
83	magnesium ion transport (GO:0015693)	2.30636124
84	pseudouridine synthesis (GO:0001522)	2.30512037
85	inositol phosphate catabolic process (GO:0071545)	2.28770063
86	nucleoside salvage (GO:0043174)	2.28629400
87	negative regulation of T cell differentiation in thymus (GO:0033085)	2.28131499
88	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.27573974
89	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.26266087
90	L-phenylalanine catabolic process (GO:0006559)	2.23690046
91	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.23690046
92	organelle membrane fusion (GO:0090174)	2.23488863
93	pteridine-containing compound biosynthetic process (GO:0042559)	2.22681967
94	positive regulation of T cell mediated cytotoxicity (GO:0001916)	2.21767871
95	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)	2.20577945
96	regulation of prostaglandin secretion (GO:0032306)	2.19816617
97	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.19096978
98	regulation of immunoglobulin secretion (GO:0051023)	2.18745459
99	eosinophil migration (GO:0072677)	2.18333679
100	regulation of hexokinase activity (GO:1903299)	2.17928290

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.86264189
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.88933585
3	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.72588440
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.57527647
5	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.52734366
6	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.45119616
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.28575950
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.04112175
9	IRF8_21731497_ChIP-ChIP_J774_Mouse	2.79455888
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.66924602
11	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.53894696
12	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.41635164
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.38865294
14	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	2.38582287
15	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.31371037
16	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.23896192
17	BP1_19119308_ChIP-ChIP_Hs578T_Human	2.15260821
18	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	2.06813788
19	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.97443960
20	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.91965928
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.79311833
22	FOXP3_21729870_ChIP-Seq_TREG_Human	1.77451155
23	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.74676051
24	VDR_22108803_ChIP-Seq_LS180_Human	1.72449569
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.65600276
26	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.64430328
27	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.63321051
28	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.55487247
29	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.53182875
30	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.51837427
31	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.44405210
32	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.44195385
33	GATA3_26560356_Chip-Seq_TH2_Human	1.42255971
34	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.42031118
35	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.41344988
36	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.40318036
37	DCP1A_22483619_ChIP-Seq_HELA_Human	1.38266897
38	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.37915478
39	STAT1_20625510_ChIP-Seq_HELA_Human	1.37230808
40	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.37048245
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.34937766
42	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.33914260
43	MYC_18940864_ChIP-ChIP_HL60_Human	1.33576220
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.32615711
45	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.30944618
46	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.30944618
47	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.30873289
48	AR_20517297_ChIP-Seq_VCAP_Human	1.29815090
49	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.29395436
50	HTT_18923047_ChIP-ChIP_STHdh_Human	1.27563883
51	ZNF274_21170338_ChIP-Seq_K562_Hela	1.26472350
52	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.25911741
53	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.25729846
54	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.25632941
55	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.23927027
56	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.22531864
57	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.21675534
58	TFEB_21752829_ChIP-Seq_HELA_Human	1.19340295
59	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.18464980
60	IRF8_27001747_Chip-Seq_BMDM_Mouse	1.16792286
61	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.14120132
62	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.12272843
63	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.11860098
64	* SPI1_23547873_ChIP-Seq_NB4_Human	1.10543805
65	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.10134256
66	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	1.09567730
67	GABP_19822575_ChIP-Seq_HepG2_Human	1.08592462
68	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.07306576
69	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.07159514
70	NANOG_19829295_ChIP-Seq_ESCs_Human	1.07032432
71	SOX2_19829295_ChIP-Seq_ESCs_Human	1.07032432
72	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.06866424
73	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.03450431
74	MYC_19829295_ChIP-Seq_ESCs_Human	1.03073526
75	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.02378834
76	TAF2_19829295_ChIP-Seq_ESCs_Human	1.01279994
77	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.00337972
78	ERG_20517297_ChIP-Seq_VCAP_Human	0.98705902
79	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.97824760
80	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	0.97099024
81	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.96337688
82	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.94821026
83	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	0.93228812
84	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	0.92929918
85	NANOG_20526341_ChIP-Seq_ESCs_Human	0.91924863
86	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.91236465
87	SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	0.89098747
88	P300_27268052_Chip-Seq_Bcells_Human	0.89001847
89	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.88718804
90	BCL6_27268052_Chip-Seq_Bcells_Human	0.87810975
91	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.86382450
92	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.86105493
93	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.85710610
94	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.84158474
95	EWS_26573619_Chip-Seq_HEK293_Human	0.83686067
96	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.83508049
97	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	0.83437904
98	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.83422837
99	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.83314027
100	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.81662150

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	3.64240602
2	MP0003806_abnormal_nucleotide_metabolis	3.59562389
3	MP0002148_abnormal_hypersensitivity_rea	2.83974084
4	MP0005671_abnormal_response_to	2.72025527
5	MP0001835_abnormal_antigen_presentation	2.53856506
6	MP0003195_calcinosis	2.51503970
7	MP0002139_abnormal_hepatobiliary_system	2.47121816
8	MP0004510_myositis	2.35532436
9	MP0005058_abnormal_lysosome_morphology	2.30238030
10	MP0009785_altered_susceptibility_to	2.29137625
11	MP0005379_endocrine/exocrine_gland_phen	2.22093913
12	MP0005084_abnormal_gallbladder_morpholo	2.10789488
13	MP0000685_abnormal_immune_system	2.10236487
14	MP0002138_abnormal_hepatobiliary_system	2.09032776
15	MP0003724_increased_susceptibility_to	2.06448937
16	MP0005464_abnormal_platelet_physiology	2.05074606
17	MP0002163_abnormal_gland_morphology	2.03621925
18	MP0002254_reproductive_system_inflammat	1.93721703
19	MP0005387_immune_system_phenotype	1.93394204
20	MP0001790_abnormal_immune_system	1.93394204
21	MP0006036_abnormal_mitochondrial_physio	1.92867176
22	MP0006082_CNS_inflammation	1.90214542
23	MP0002693_abnormal_pancreas_physiology	1.85058514
24	MP0005000_abnormal_immune_tolerance	1.83921252
25	MP0003186_abnormal_redox_activity	1.80403788
26	MP0006072_abnormal_retinal_apoptosis	1.77983634
27	MP0002876_abnormal_thyroid_physiology	1.75580880
28	MP0009764_decreased_sensitivity_to	1.62344563
29	MP0003436_decreased_susceptibility_to	1.60192752
30	MP0005645_abnormal_hypothalamus_physiol	1.59070819
31	MP0002277_abnormal_respiratory_mucosa	1.56220588
32	MP0002723_abnormal_immune_serum	1.55039395
33	MP0003075_altered_response_to	1.48516693
34	MP0002452_abnormal_antigen_presenting	1.47467944
35	MP0005646_abnormal_pituitary_gland	1.46642642
36	MP0001845_abnormal_inflammatory_respons	1.46285299
37	MP0005332_abnormal_amino_acid	1.45515523
38	MP0001800_abnormal_humoral_immune	1.44442491
39	MP0001756_abnormal_urination	1.42793714
40	MP0006054_spinal_hemorrhage	1.41056062
41	MP0010386_abnormal_urinary_bladder	1.39608966
42	MP0005025_abnormal_response_to	1.39241157
43	MP0009046_muscle_twitch	1.38546821
44	MP0004019_abnormal_vitamin_homeostasis	1.36423201
45	MP0003303_peritoneal_inflammation	1.35755956
46	MP0008875_abnormal_xenobiotic_pharmacok	1.35515841
47	MP0001944_abnormal_pancreas_morphology	1.31779577
48	MP0008469_abnormal_protein_level	1.30276647
49	MP0001873_stomach_inflammation	1.29982411
50	MP0002419_abnormal_innate_immunity	1.29688876
51	MP0000343_altered_response_to	1.28709640
52	MP0001905_abnormal_dopamine_level	1.27271646
53	MP0003172_abnormal_lysosome_physiology	1.25708248
54	MP0002420_abnormal_adaptive_immunity	1.23257265
55	MP0001819_abnormal_immune_cell	1.23122281
56	MP0009333_abnormal_splenocyte_physiolog	1.23017961
57	MP0001853_heart_inflammation	1.22747529
58	MP0008872_abnormal_physiological_respon	1.21485608
59	MP0005636_abnormal_mineral_homeostasis	1.20696430
60	MP0001533_abnormal_skeleton_physiology	1.19466353
61	MP0003011_delayed_dark_adaptation	1.19132828
62	MP0003786_premature_aging	1.16182562
63	MP0010155_abnormal_intestine_physiology	1.14014608
64	MP0002909_abnormal_adrenal_gland	1.12153314
65	MP0001501_abnormal_sleep_pattern	1.09717943
66	MP0005075_abnormal_melanosome_morpholog	1.08030106
67	MP0009780_abnormal_chondrocyte_physiolo	1.07532248
68	MP0001764_abnormal_homeostasis	1.03701549
69	MP0002736_abnormal_nociception_after	1.03680634
70	MP0005410_abnormal_fertilization	1.03502517
71	MP0005367_renal/urinary_system_phenotyp	1.02773974
72	MP0000516_abnormal_urinary_system	1.02773974
73	MP0005167_abnormal_blood-brain_barrier	1.01551647
74	MP0005365_abnormal_bile_salt	1.00846388
75	MP0001968_abnormal_touch/_nociception	1.00055667
76	MP0005166_decreased_susceptibility_to	0.96026573
77	MP0003283_abnormal_digestive_organ	0.95387055
78	MP0005165_increased_susceptibility_to	0.94788507
79	MP0000013_abnormal_adipose_tissue	0.94502634
80	MP0010329_abnormal_lipoprotein_level	0.94196616
81	MP0001919_abnormal_reproductive_system	0.94127469
82	MP0002405_respiratory_system_inflammati	0.93241649
83	MP0009643_abnormal_urine_homeostasis	0.90058552
84	MP0005310_abnormal_salivary_gland	0.89904555
85	MP0000372_irregular_coat_pigmentation	0.89746886
86	MP0000230_abnormal_systemic_arterial	0.89252438
87	MP0005174_abnormal_tail_pigmentation	0.87886391
88	MP0001765_abnormal_ion_homeostasis	0.87230622
89	MP0000689_abnormal_spleen_morphology	0.87121046
90	MP0001542_abnormal_bone_strength	0.86662741
91	MP0004043_abnormal_pH_regulation	0.86233490
92	MP0005253_abnormal_eye_physiology	0.85045749
93	MP0005535_abnormal_body_temperature	0.84389809
94	MP0009840_abnormal_foam_cell	0.84295058
95	MP0003866_abnormal_defecation	0.84212732
96	MP0002638_abnormal_pupillary_reflex	0.83929213
97	MP0000716_abnormal_immune_system	0.83040221
98	MP0008877_abnormal_DNA_methylation	0.82332318
99	MP0008004_abnormal_stomach_pH	0.82042541
100	MP0006035_abnormal_mitochondrial_morpho	0.81574059

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.32644164
2	Mitochondrial inheritance (HP:0001427)	4.25479620
3	3-Methylglutaconic aciduria (HP:0003535)	3.98829690
4	Progressive macrocephaly (HP:0004481)	3.95497160
5	Renal Fanconi syndrome (HP:0001994)	3.93224734
6	Increased hepatocellular lipid droplets (HP:0006565)	3.88083183
7	Increased CSF lactate (HP:0002490)	3.81953898
8	Abnormal mitochondria in muscle tissue (HP:0008316)	3.81686717
9	Lipid accumulation in hepatocytes (HP:0006561)	3.77919066
10	Hepatic necrosis (HP:0002605)	3.59760194
11	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.51632521
12	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.51632521
13	Hepatocellular necrosis (HP:0001404)	3.50965894
14	Acute encephalopathy (HP:0006846)	3.49399681
15	Methylmalonic acidemia (HP:0002912)	3.41041145
16	Methylmalonic aciduria (HP:0012120)	3.40344986
17	Petechiae (HP:0000967)	3.37262527
18	Exertional dyspnea (HP:0002875)	3.36647007
19	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.27856558
20	Abnormality of glycolipid metabolism (HP:0010969)	3.20241282
21	Abnormality of liposaccharide metabolism (HP:0010968)	3.20241282
22	Abnormality of glycosphingolipid metabolism (HP:0004343)	3.20241282
23	Vacuolated lymphocytes (HP:0001922)	3.03434320
24	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	3.01279579
25	Congenital, generalized hypertrichosis (HP:0004540)	2.95955995
26	Stomatitis (HP:0010280)	2.93954458
27	Increased intramyocellular lipid droplets (HP:0012240)	2.73770871
28	Abnormality of renal resorption (HP:0011038)	2.69363595
29	Abnormality of urine glucose concentration (HP:0011016)	2.66461893
30	Glycosuria (HP:0003076)	2.66461893
31	Respiratory failure (HP:0002878)	2.65601730
32	Generalized aminoaciduria (HP:0002909)	2.63633812
33	Abnormality of vitamin B metabolism (HP:0004340)	2.62427213
34	Hypothermia (HP:0002045)	2.59043723
35	Lactic acidosis (HP:0003128)	2.57345359
36	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.54161314
37	Cerebral edema (HP:0002181)	2.53756363
38	Progressive neurologic deterioration (HP:0002344)	2.46708736
39	Increased muscle lipid content (HP:0009058)	2.45715200
40	Increased serum lactate (HP:0002151)	2.42681179
41	Ketoacidosis (HP:0001993)	2.34397292
42	Dicarboxylic aciduria (HP:0003215)	2.30307930
43	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.30307930
44	IgG deficiency (HP:0004315)	2.28940224
45	Hypoglycemic coma (HP:0001325)	2.26534704
46	Tongue fasciculations (HP:0001308)	2.19444555
47	Type I transferrin isoform profile (HP:0003642)	2.17062210
48	Lethargy (HP:0001254)	2.13931196
49	Large for gestational age (HP:0001520)	2.12216124
50	Respiratory difficulties (HP:0002880)	2.10810338
51	Purpura (HP:0000979)	2.08782014
52	Dysostosis multiplex (HP:0000943)	2.08100756
53	Aplasia/hypoplasia of the uterus (HP:0008684)	2.07114413
54	Pancreatic cysts (HP:0001737)	2.04332799
55	Abnormal drinking behavior (HP:0030082)	2.03755252
56	Polydipsia (HP:0001959)	2.03755252
57	Abnormality of magnesium homeostasis (HP:0004921)	2.02323271
58	Hypomagnesemia (HP:0002917)	2.01449280
59	Optic disc pallor (HP:0000543)	2.01312957
60	Renal cortical cysts (HP:0000803)	1.99608644
61	Exercise intolerance (HP:0003546)	1.99528330
62	Congenital stationary night blindness (HP:0007642)	1.97019923
63	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.96730237
64	Abnormality of the renal cortex (HP:0011035)	1.93718324
65	Ketosis (HP:0001946)	1.89907876
66	Abnormal protein glycosylation (HP:0012346)	1.89838921
67	Abnormal glycosylation (HP:0012345)	1.89838921
68	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.89838921
69	Abnormal protein N-linked glycosylation (HP:0012347)	1.89838921
70	Abnormality of methionine metabolism (HP:0010901)	1.88709425
71	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.85289647
72	Abnormality of alanine metabolism (HP:0010916)	1.85289647
73	Hyperalaninemia (HP:0003348)	1.85289647
74	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.85036817
75	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.84649490
76	Abnormality of macrophages (HP:0004311)	1.84210402
77	Hypoalbuminemia (HP:0003073)	1.82032938
78	Abnormal albumin level (HP:0012116)	1.82032938
79	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.81038372
80	Hyperinsulinemic hypoglycemia (HP:0000825)	1.79757010
81	Abnormality of vitamin metabolism (HP:0100508)	1.79661856
82	Molar tooth sign on MRI (HP:0002419)	1.78037626
83	Abnormality of midbrain morphology (HP:0002418)	1.78037626
84	Abolished electroretinogram (ERG) (HP:0000550)	1.77357035
85	Prolonged bleeding time (HP:0003010)	1.77039707
86	Poor head control (HP:0002421)	1.76585934
87	Elevated erythrocyte sedimentation rate (HP:0003565)	1.76580425
88	Muscle fibrillation (HP:0010546)	1.75987520
89	Opisthotonus (HP:0002179)	1.74930169
90	Hematochezia (HP:0002573)	1.73650568
91	Nausea (HP:0002018)	1.71312526
92	Bone cyst (HP:0012062)	1.71163830
93	Polyphagia (HP:0002591)	1.69692938
94	Hyperphosphaturia (HP:0003109)	1.69388403
95	Late onset (HP:0003584)	1.68204337
96	Abnormality of polysaccharide metabolism (HP:0011012)	1.66304249
97	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.66304249
98	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.66304249
99	Mesangial abnormality (HP:0001966)	1.64532973
100	Hepatosplenomegaly (HP:0001433)	1.63507209

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TLK1	5.01744478
2	MST4	3.71975625
3	FRK	3.45227031
4	NME2	2.60030965
5	ADRBK2	2.56009259
6	TXK	2.55833456
7	MAP4K2	2.50842569
8	STK16	2.29595049
9	PHKG2	2.24507931
10	PHKG1	2.24507931
11	VRK2	2.21900572
12	TAOK3	2.16854662
13	MAP3K12	1.98252145
14	IKBKB	1.88003625
15	GRK1	1.82557486
16	BCKDK	1.75325984
17	NUAK1	1.70380612
18	ACVR1B	1.64760559
19	EIF2AK1	1.55074455
20	ZAK	1.50722940
21	BMPR1B	1.48982808
22	BUB1	1.44236082
23	TESK1	1.42844200
24	DAPK2	1.39876847
25	MAP2K6	1.38294864
26	TESK2	1.37375562
27	GRK7	1.37184267
28	LIMK1	1.36813052
29	MYLK	1.35710334
30	IRAK3	1.22445263
31	VRK1	1.17365245
32	CSNK1G3	1.12663543
33	WNK3	1.12662555
34	ABL2	1.07877647
35	PIM2	1.04429395
36	TAOK1	1.02520388
37	INSRR	1.01929628
38	CSNK1G1	1.01721203
39	IKBKE	0.99516560
40	TBK1	0.98005644
41	RIPK4	0.97228461
42	BMPR2	0.96928030
43	MAPKAPK3	0.94635522
44	PINK1	0.94065458
45	DAPK1	0.89286157
46	MAP3K14	0.89059228
47	TEC	0.88420661
48	CSNK1G2	0.86359004
49	OXSR1	0.85240675
50	WNK4	0.85026183
51	MAP4K1	0.84187556
52	GRK6	0.80847948
53	SYK	0.80226901
54	GRK5	0.78047224
55	CAMKK2	0.72928430
56	EIF2AK3	0.71905798
57	LYN	0.71520652
58	BLK	0.69525345
59	FES	0.68822871
60	ADRBK1	0.66637452
61	MATK	0.65760546
62	ILK	0.62757024
63	ITK	0.59512836
64	ARAF	0.59267385
65	DAPK3	0.58467507
66	CHUK	0.58434573
67	PTK2B	0.57842538
68	PRKCI	0.56934875
69	IRAK4	0.56664431
70	CSF1R	0.53172408
71	PRKCE	0.51906301
72	HIPK2	0.50430646
73	PLK2	0.50428947
74	TNK2	0.50226511
75	TAOK2	0.49422542
76	MAP3K11	0.48134302
77	FER	0.48113818
78	CSNK1A1L	0.47897219
79	PLK3	0.47728359
80	KDR	0.47582560
81	KIT	0.45645021
82	PRKCQ	0.42095265
83	PAK3	0.40779236
84	PASK	0.40002235
85	ZAP70	0.39908793
86	RPS6KA5	0.39628421
87	MAP2K2	0.38585520
88	MARK3	0.37795345
89	MAP3K3	0.37722349
90	STK39	0.37622077
91	BTK	0.37290062
92	TNIK	0.36740861
93	PRKCG	0.36688208
94	TGFBR2	0.35572491
95	EIF2AK2	0.35090359
96	CSNK1A1	0.32928004
97	IRAK1	0.32826808
98	STK24	0.32314361
99	STK10	0.32272314
100	NME1	0.30355247

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.13984525
2	Parkinsons disease_Homo sapiens_hsa05012	3.05357091
3	Proteasome_Homo sapiens_hsa03050	2.97252500
4	Protein export_Homo sapiens_hsa03060	2.85811839
5	Sulfur metabolism_Homo sapiens_hsa00920	2.64409757
6	Collecting duct acid secretion_Homo sapiens_hsa04966	2.59120664
7	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.54740500
8	Type I diabetes mellitus_Homo sapiens_hsa04940	2.53534729
9	Asthma_Homo sapiens_hsa05310	2.51756581
10	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.27802867
11	Rheumatoid arthritis_Homo sapiens_hsa05323	2.23001562
12	Allograft rejection_Homo sapiens_hsa05330	2.21052862
13	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	2.19189915
14	RNA polymerase_Homo sapiens_hsa03020	2.18892933
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.03252882
16	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.99398299
17	Alzheimers disease_Homo sapiens_hsa05010	1.97742129
18	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.94800116
19	Ribosome_Homo sapiens_hsa03010	1.89562238
20	Huntingtons disease_Homo sapiens_hsa05016	1.87211904
21	Graft-versus-host disease_Homo sapiens_hsa05332	1.84053042
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.73888269
23	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.57803704
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.54100498
25	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.52951093
26	Folate biosynthesis_Homo sapiens_hsa00790	1.47469133
27	Lysosome_Homo sapiens_hsa04142	1.25311353
28	Homologous recombination_Homo sapiens_hsa03440	1.23802386
29	Fatty acid elongation_Homo sapiens_hsa00062	1.16402334
30	Antigen processing and presentation_Homo sapiens_hsa04612	1.14932302
31	Glutathione metabolism_Homo sapiens_hsa00480	1.12965385
32	Sulfur relay system_Homo sapiens_hsa04122	1.11564660
33	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.06590132
34	Other glycan degradation_Homo sapiens_hsa00511	1.06290333
35	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.04508454
36	Pyrimidine metabolism_Homo sapiens_hsa00240	1.03672597
37	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.02372391
38	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.99238988
39	Cardiac muscle contraction_Homo sapiens_hsa04260	0.98860377
40	Tryptophan metabolism_Homo sapiens_hsa00380	0.97473684
41	Primary immunodeficiency_Homo sapiens_hsa05340	0.96979859
42	Regulation of autophagy_Homo sapiens_hsa04140	0.91918122
43	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.91349333
44	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.89839321
45	Mineral absorption_Homo sapiens_hsa04978	0.89799943
46	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.87935314
47	Purine metabolism_Homo sapiens_hsa00230	0.87277123
48	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.86774166
49	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.84756224
50	Phototransduction_Homo sapiens_hsa04744	0.83257131
51	Peroxisome_Homo sapiens_hsa04146	0.83134861
52	Vibrio cholerae infection_Homo sapiens_hsa05110	0.82929740
53	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.79635524
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.77317269
55	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.76232629
56	Basal transcription factors_Homo sapiens_hsa03022	0.75079049
57	Mismatch repair_Homo sapiens_hsa03430	0.70623252
58	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.70590250
59	RNA degradation_Homo sapiens_hsa03018	0.69841762
60	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.67165354
61	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66639337
62	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.65706187
63	Legionellosis_Homo sapiens_hsa05134	0.64543230
64	Leishmaniasis_Homo sapiens_hsa05140	0.64369338
65	Butanoate metabolism_Homo sapiens_hsa00650	0.63100952
66	Metabolic pathways_Homo sapiens_hsa01100	0.62674660
67	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.61694726
68	Phagosome_Homo sapiens_hsa04145	0.60354219
69	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.60041120
70	One carbon pool by folate_Homo sapiens_hsa00670	0.59145034
71	Nitrogen metabolism_Homo sapiens_hsa00910	0.57449879
72	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.56368856
73	Nucleotide excision repair_Homo sapiens_hsa03420	0.56218230
74	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.55109942
75	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.53831571
76	Sphingolipid metabolism_Homo sapiens_hsa00600	0.53691212
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.53182623
78	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.52968604
79	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.51812158
80	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.50173896
81	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.49705071
82	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.49210059
83	Pertussis_Homo sapiens_hsa05133	0.46925620
84	Linoleic acid metabolism_Homo sapiens_hsa00591	0.46696942
85	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.46563914
86	African trypanosomiasis_Homo sapiens_hsa05143	0.46383678
87	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.45785939
88	Ether lipid metabolism_Homo sapiens_hsa00565	0.44974095
89	Selenocompound metabolism_Homo sapiens_hsa00450	0.44049678
90	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.42527948
91	Tuberculosis_Homo sapiens_hsa05152	0.40403904
92	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.39337149
93	Herpes simplex infection_Homo sapiens_hsa05168	0.37956441
94	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.37876770
95	Viral myocarditis_Homo sapiens_hsa05416	0.37590888
96	Salmonella infection_Homo sapiens_hsa05132	0.37079526
97	Caffeine metabolism_Homo sapiens_hsa00232	0.34378941
98	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.33198336
99	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.31917723
100	Insulin secretion_Homo sapiens_hsa04911	0.31570311

RNASEK-C17ORF49

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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