ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.08195321
2	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.08195321
3	NADH dehydrogenase complex assembly (GO:0010257)	5.08195321
4	protein complex biogenesis (GO:0070271)	4.97995384
5	mitochondrial respiratory chain complex assembly (GO:0033108)	4.60158712
6	chaperone-mediated protein transport (GO:0072321)	4.22920127
7	DNA deamination (GO:0045006)	4.19714348
8	proteasome assembly (GO:0043248)	4.13547972
9	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.12480356
10	cullin deneddylation (GO:0010388)	4.10111996
11	DNA damage response, detection of DNA damage (GO:0042769)	4.06943332
12	base-excision repair, AP site formation (GO:0006285)	3.94078444
13	protein deneddylation (GO:0000338)	3.93292500
14	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.80579172
15	platelet dense granule organization (GO:0060155)	3.75196632
16	regulation of memory T cell differentiation (GO:0043380)	3.69961479
17	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.63557197
18	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.55187236
19	ATP synthesis coupled proton transport (GO:0015986)	3.55187236
20	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.52434775
21	rRNA modification (GO:0000154)	3.51245852
22	behavioral response to nicotine (GO:0035095)	3.50115002
23	respiratory chain complex IV assembly (GO:0008535)	3.49735567
24	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	3.44287187
25	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.43581865
26	negative regulation of mast cell activation (GO:0033004)	3.42136927
27	DNA double-strand break processing (GO:0000729)	3.32936257
28	respiratory electron transport chain (GO:0022904)	3.30600201
29	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.29098634
30	electron transport chain (GO:0022900)	3.26401260
31	maturation of 5.8S rRNA (GO:0000460)	3.17973145
32	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	3.16510244
33	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.15345034
34	regulation of cilium movement (GO:0003352)	3.13178747
35	iron-sulfur cluster assembly (GO:0016226)	3.11133503
36	metallo-sulfur cluster assembly (GO:0031163)	3.11133503
37	cellular ketone body metabolic process (GO:0046950)	3.09399764
38	termination of RNA polymerase III transcription (GO:0006386)	3.07023536
39	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.07023536
40	cytochrome complex assembly (GO:0017004)	2.99436845
41	protein-cofactor linkage (GO:0018065)	2.97936117
42	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.96816282
43	protein neddylation (GO:0045116)	2.94521924
44	water-soluble vitamin biosynthetic process (GO:0042364)	2.93210642
45	ubiquinone biosynthetic process (GO:0006744)	2.91135849
46	positive regulation of prostaglandin secretion (GO:0032308)	2.89326906
47	ubiquinone metabolic process (GO:0006743)	2.88543102
48	DNA catabolic process, exonucleolytic (GO:0000738)	2.88066390
49	organelle disassembly (GO:1903008)	2.86771233
50	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.86009748
51	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.81257920
52	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.81257920
53	rRNA methylation (GO:0031167)	2.79658759
54	preassembly of GPI anchor in ER membrane (GO:0016254)	2.79449295
55	S-adenosylmethionine metabolic process (GO:0046500)	2.78654857
56	positive regulation of defense response to virus by host (GO:0002230)	2.76973803
57	ketone body metabolic process (GO:1902224)	2.75822995
58	axoneme assembly (GO:0035082)	2.75150300
59	mannosylation (GO:0097502)	2.71686314
60	hydrogen ion transmembrane transport (GO:1902600)	2.71014432
61	amino acid salvage (GO:0043102)	2.68394722
62	L-methionine salvage (GO:0071267)	2.68394722
63	L-methionine biosynthetic process (GO:0071265)	2.68394722
64	positive regulation of cell fate commitment (GO:0010455)	2.66234323
65	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.65149800
66	regulation of cellular amino acid metabolic process (GO:0006521)	2.64556394
67	L-fucose catabolic process (GO:0042355)	2.62401441
68	fucose catabolic process (GO:0019317)	2.62401441
69	L-fucose metabolic process (GO:0042354)	2.62401441
70	2-deoxyribonucleotide metabolic process (GO:0009394)	2.62113903
71	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.61727882
72	proton transport (GO:0015992)	2.59898520
73	sperm motility (GO:0030317)	2.59652918
74	intracellular protein transmembrane import (GO:0044743)	2.58951401
75	nonmotile primary cilium assembly (GO:0035058)	2.58598504
76	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.58076411
77	ATP biosynthetic process (GO:0006754)	2.58004846
78	replication fork processing (GO:0031297)	2.56971226
79	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.56121582
80	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.55857913
81	protein K6-linked ubiquitination (GO:0085020)	2.55851084
82	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.55716275
83	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.55716275
84	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.55716275
85	protein prenylation (GO:0018342)	2.54145253
86	prenylation (GO:0097354)	2.54145253
87	response to pheromone (GO:0019236)	2.54006250
88	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.53081770
89	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.53081770
90	ATP hydrolysis coupled proton transport (GO:0015991)	2.52761564
91	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.52761564
92	hydrogen transport (GO:0006818)	2.51745280
93	protein targeting to mitochondrion (GO:0006626)	2.49634239
94	microtubule depolymerization (GO:0007019)	2.49276911
95	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.49176255
96	GTP biosynthetic process (GO:0006183)	2.49059291
97	positive regulation of T-helper 1 type immune response (GO:0002827)	2.48685562
98	pseudouridine synthesis (GO:0001522)	2.48656767
99	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.48588119
100	pyrimidine nucleotide catabolic process (GO:0006244)	2.47747209

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.90560165
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.45377355
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.33874146
4	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.22097496
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.12526832
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.99627973
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.93380783
8	VDR_22108803_ChIP-Seq_LS180_Human	2.76669443
9	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.31686345
10	VDR_23849224_ChIP-Seq_CD4+_Human	2.27770169
11	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.25628203
12	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.14099109
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.11507298
14	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.09919199
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.09844654
16	EWS_26573619_Chip-Seq_HEK293_Human	2.08044922
17	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.05290060
18	ELK1_19687146_ChIP-ChIP_HELA_Human	1.99564642
19	FUS_26573619_Chip-Seq_HEK293_Human	1.91292846
20	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.90234168
21	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.88342370
22	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.84388527
23	P300_19829295_ChIP-Seq_ESCs_Human	1.83482107
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.80342391
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.79907098
26	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.79330741
27	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.75728825
28	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.74470199
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.74155687
30	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.71837162
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.69982277
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.69452087
33	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.69193024
34	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.68923193
35	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.67862451
36	TAF15_26573619_Chip-Seq_HEK293_Human	1.66747543
37	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.63866580
38	FOXP3_21729870_ChIP-Seq_TREG_Human	1.63828418
39	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.57974648
40	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.52902785
41	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.52071626
42	GBX2_23144817_ChIP-Seq_PC3_Human	1.51680396
43	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.51540008
44	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.50750961
45	IGF1R_20145208_ChIP-Seq_DFB_Human	1.44488946
46	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.41081497
47	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.41081497
48	IRF1_19129219_ChIP-ChIP_H3396_Human	1.40124996
49	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39597718
50	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39597718
51	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.36372954
52	DCP1A_22483619_ChIP-Seq_HELA_Human	1.31560925
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.30249448
54	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.25977691
55	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.25764795
56	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.25714634
57	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.19920943
58	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.17482699
59	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17445094
60	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.17145852
61	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.16816953
62	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.16599427
63	CBP_20019798_ChIP-Seq_JUKART_Human	1.16599427
64	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.16561204
65	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.16345683
66	AR_20517297_ChIP-Seq_VCAP_Human	1.14644526
67	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.12367415
68	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.10754540
69	HOXB7_26014856_ChIP-Seq_BT474_Human	1.09681413
70	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.07299880
71	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.07232462
72	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.05326243
73	RBPJ_21746931_ChIP-Seq_IB4_Human	1.04685435
74	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.04681587
75	MYC_19829295_ChIP-Seq_ESCs_Human	1.04358934
76	RNF2_27304074_Chip-Seq_NSC_Mouse	1.04125811
77	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.03076039
78	GATA3_26560356_Chip-Seq_TH2_Human	1.02583867
79	BCAT_22108803_ChIP-Seq_LS180_Human	1.02425444
80	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.01824281
81	NCOR_22424771_ChIP-Seq_293T_Human	1.01397511
82	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.01368350
83	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.98874765
84	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.98180234
85	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.97720548
86	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.97709668
87	EZH2_22144423_ChIP-Seq_EOC_Human	0.97373505
88	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.96703305
89	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.96454881
90	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.96428041
91	PHF8_20622853_ChIP-Seq_HELA_Human	0.96113023
92	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.95619801
93	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.93601837
94	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.92580231
95	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.92046188
96	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.92011204
97	TCF4_22108803_ChIP-Seq_LS180_Human	0.90674413
98	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.90348456
99	AR_25329375_ChIP-Seq_VCAP_Human	0.88937285
100	ETV1_20927104_ChIP-Seq_GIST48_Human	0.88297675

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.38450973
2	MP0006072_abnormal_retinal_apoptosis	3.38214291
3	MP0002138_abnormal_hepatobiliary_system	3.23610647
4	MP0003787_abnormal_imprinting	2.91770284
5	MP0008877_abnormal_DNA_methylation	2.66440885
6	MP0005645_abnormal_hypothalamus_physiol	2.34022430
7	MP0002163_abnormal_gland_morphology	2.28458810
8	MP0005551_abnormal_eye_electrophysiolog	2.24533944
9	MP0008875_abnormal_xenobiotic_pharmacok	2.23806294
10	MP0010386_abnormal_urinary_bladder	2.23771038
11	MP0008058_abnormal_DNA_repair	2.19684379
12	MP0001764_abnormal_homeostasis	2.16093783
13	MP0003880_abnormal_central_pattern	2.09399572
14	MP0001529_abnormal_vocalization	2.06882678
15	MP0002102_abnormal_ear_morphology	1.96633313
16	MP0005646_abnormal_pituitary_gland	1.87678527
17	MP0003011_delayed_dark_adaptation	1.86674679
18	MP0002876_abnormal_thyroid_physiology	1.85481000
19	MP0001485_abnormal_pinna_reflex	1.83040613
20	MP0008872_abnormal_physiological_respon	1.82913845
21	MP0005075_abnormal_melanosome_morpholog	1.82560207
22	MP0005084_abnormal_gallbladder_morpholo	1.77538792
23	MP0004147_increased_porphyrin_level	1.74793978
24	MP0006276_abnormal_autonomic_nervous	1.72970649
25	MP0004142_abnormal_muscle_tone	1.72490168
26	MP0005085_abnormal_gallbladder_physiolo	1.69078662
27	MP0001919_abnormal_reproductive_system	1.68049990
28	MP0001986_abnormal_taste_sensitivity	1.64924942
29	MP0005253_abnormal_eye_physiology	1.63473586
30	MP0006036_abnormal_mitochondrial_physio	1.60950438
31	MP0002736_abnormal_nociception_after	1.60474642
32	MP0005379_endocrine/exocrine_gland_phen	1.59225994
33	MP0000685_abnormal_immune_system	1.58385990
34	MP0001905_abnormal_dopamine_level	1.54789185
35	MP0004885_abnormal_endolymph	1.54482974
36	MP0001968_abnormal_touch/_nociception	1.52032687
37	MP0005389_reproductive_system_phenotype	1.48494565
38	MP0002139_abnormal_hepatobiliary_system	1.47173055
39	MP0001486_abnormal_startle_reflex	1.47069380
40	MP0009745_abnormal_behavioral_response	1.44101768
41	MP0005365_abnormal_bile_salt	1.40323952
42	MP0005671_abnormal_response_to	1.35265382
43	MP0002837_dystrophic_cardiac_calcinosis	1.32072008
44	MP0009046_muscle_twitch	1.30750740
45	MP0002272_abnormal_nervous_system	1.26561212
46	MP0001501_abnormal_sleep_pattern	1.26355047
47	MP0004742_abnormal_vestibular_system	1.26313688
48	MP0009785_altered_susceptibility_to	1.23857263
49	MP0005410_abnormal_fertilization	1.23564565
50	MP0006292_abnormal_olfactory_placode	1.21420028
51	MP0005332_abnormal_amino_acid	1.20800292
52	MP0000372_irregular_coat_pigmentation	1.17061089
53	MP0004043_abnormal_pH_regulation	1.11390536
54	MP0005360_urolithiasis	1.07995849
55	MP0003186_abnormal_redox_activity	1.07134923
56	MP0003866_abnormal_defecation	1.06619291
57	MP0001835_abnormal_antigen_presentation	1.04999388
58	MP0005167_abnormal_blood-brain_barrier	0.95803342
59	MP0001502_abnormal_circadian_rhythm	0.94742659
60	MP0006035_abnormal_mitochondrial_morpho	0.90186210
61	MP0001929_abnormal_gametogenesis	0.89799674
62	MP0006054_spinal_hemorrhage	0.89727862
63	MP0002572_abnormal_emotion/affect_behav	0.89065879
64	MP0004145_abnormal_muscle_electrophysio	0.88967807
65	MP0005083_abnormal_biliary_tract	0.88167039
66	MP0000631_abnormal_neuroendocrine_gland	0.87206787
67	MP0001984_abnormal_olfaction	0.85835402
68	MP0003638_abnormal_response/metabolism_	0.84301863
69	MP0003718_maternal_effect	0.81923381
70	MP0004019_abnormal_vitamin_homeostasis	0.80285815
71	MP0009764_decreased_sensitivity_to	0.80278619
72	MP0003786_premature_aging	0.79197541
73	MP0002557_abnormal_social/conspecific_i	0.78501057
74	MP0010094_abnormal_chromosome_stability	0.77809500
75	MP0005636_abnormal_mineral_homeostasis	0.76399986
76	MP0005195_abnormal_posterior_eye	0.76364652
77	MP0001800_abnormal_humoral_immune	0.76234343
78	MP0005387_immune_system_phenotype	0.75593669
79	MP0001790_abnormal_immune_system	0.75593669
80	MP0000538_abnormal_urinary_bladder	0.74538610
81	MP0003121_genomic_imprinting	0.73790836
82	MP0004215_abnormal_myocardial_fiber	0.73671919
83	MP0001963_abnormal_hearing_physiology	0.73628954
84	MP0001324_abnormal_eye_pigmentation	0.73624009
85	MP0000026_abnormal_inner_ear	0.73351326
86	MP0002095_abnormal_skin_pigmentation	0.73237229
87	MP0002160_abnormal_reproductive_system	0.72907183
88	MP0004133_heterotaxia	0.72193134
89	MP0002210_abnormal_sex_determination	0.71162553
90	MP0001970_abnormal_pain_threshold	0.69807983
91	MP0002733_abnormal_thermal_nociception	0.69266726
92	MP0000569_abnormal_digit_pigmentation	0.67858763
93	MP0001765_abnormal_ion_homeostasis	0.67543793
94	MP0001119_abnormal_female_reproductive	0.67338278
95	MP0005395_other_phenotype	0.64951117
96	MP0003806_abnormal_nucleotide_metabolis	0.62511154
97	MP0005386_behavior/neurological_phenoty	0.62496143
98	MP0004924_abnormal_behavior	0.62496143
99	MP0002067_abnormal_sensory_capabilities	0.62167677
100	MP0002752_abnormal_somatic_nervous	0.62042573

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.43037868
2	3-Methylglutaconic aciduria (HP:0003535)	4.25108142
3	Hepatocellular necrosis (HP:0001404)	4.16599036
4	Abnormal mitochondria in muscle tissue (HP:0008316)	4.07892224
5	Mitochondrial inheritance (HP:0001427)	3.97026400
6	Acute encephalopathy (HP:0006846)	3.81108916
7	Hepatic necrosis (HP:0002605)	3.75711351
8	Progressive macrocephaly (HP:0004481)	3.72072606
9	Increased CSF lactate (HP:0002490)	3.69345736
10	Type II lissencephaly (HP:0007260)	3.62065155
11	Retinal dysplasia (HP:0007973)	3.60337605
12	True hermaphroditism (HP:0010459)	3.36014147
13	Abnormality of the proximal phalanges of the hand (HP:0009834)	3.31552265
14	Abnormality of the phalanges of the 2nd finger (HP:0009541)	3.23138359
15	Pancreatic cysts (HP:0001737)	3.04087347
16	Abolished electroretinogram (ERG) (HP:0000550)	3.03536409
17	Congenital stationary night blindness (HP:0007642)	2.90117517
18	Abnormality of the labia minora (HP:0012880)	2.85711406
19	Medial flaring of the eyebrow (HP:0010747)	2.83773529
20	Cerebral edema (HP:0002181)	2.83378003
21	Aplasia/hypoplasia of the uterus (HP:0008684)	2.82308625
22	Pancreatic fibrosis (HP:0100732)	2.69932477
23	Fibular aplasia (HP:0002990)	2.68099269
24	Hypoplasia of the uterus (HP:0000013)	2.67759957
25	Pendular nystagmus (HP:0012043)	2.66348578
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.65748100
27	Optic disc pallor (HP:0000543)	2.65249565
28	Increased serum lactate (HP:0002151)	2.62419194
29	Abnormality of midbrain morphology (HP:0002418)	2.56872502
30	Molar tooth sign on MRI (HP:0002419)	2.56872502
31	Abnormality of the middle phalanges of the toes (HP:0010183)	2.55375449
32	Nephronophthisis (HP:0000090)	2.49076238
33	Occipital encephalocele (HP:0002085)	2.44047351
34	Adactyly (HP:0009776)	2.43992742
35	Respiratory failure (HP:0002878)	2.42168151
36	Nephrogenic diabetes insipidus (HP:0009806)	2.41751536
37	Congenital sensorineural hearing impairment (HP:0008527)	2.36148815
38	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.35768483
39	Retrobulbar optic neuritis (HP:0100654)	2.32827166
40	Optic neuritis (HP:0100653)	2.32827166
41	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.32686900
42	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.32686900
43	Congenital primary aphakia (HP:0007707)	2.29525947
44	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	2.29305735
45	Lactic acidosis (HP:0003128)	2.28357714
46	Abnormal respiratory epithelium morphology (HP:0012253)	2.27573387
47	Abnormal respiratory motile cilium morphology (HP:0005938)	2.27573387
48	Renal cortical cysts (HP:0000803)	2.22222496
49	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.21502165
50	Abnormality of alanine metabolism (HP:0010916)	2.21502165
51	Hyperalaninemia (HP:0003348)	2.21502165
52	Gait imbalance (HP:0002141)	2.21430371
53	Severe combined immunodeficiency (HP:0004430)	2.16996528
54	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.16900318
55	Chronic hepatic failure (HP:0100626)	2.15303275
56	Increased corneal curvature (HP:0100692)	2.14884643
57	Keratoconus (HP:0000563)	2.14884643
58	Abnormality of the renal cortex (HP:0011035)	2.13554677
59	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.10469228
60	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.10009174
61	Short tibia (HP:0005736)	2.09257059
62	IgG deficiency (HP:0004315)	2.09189977
63	Abnormal rod and cone electroretinograms (HP:0008323)	2.02511193
64	CNS demyelination (HP:0007305)	1.99631339
65	Leukodystrophy (HP:0002415)	1.98549289
66	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	1.97161445
67	Degeneration of the lateral corticospinal tracts (HP:0002314)	1.95351441
68	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	1.95351441
69	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.93930598
70	Short 1st metacarpal (HP:0010034)	1.93930598
71	Bony spicule pigmentary retinopathy (HP:0007737)	1.90998995
72	Sclerocornea (HP:0000647)	1.90304406
73	Abnormal ciliary motility (HP:0012262)	1.89606697
74	Absent/shortened dynein arms (HP:0200106)	1.89525057
75	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.89525057
76	Congenital, generalized hypertrichosis (HP:0004540)	1.88967063
77	Attenuation of retinal blood vessels (HP:0007843)	1.87184046
78	Abnormality of the renal medulla (HP:0100957)	1.85699802
79	Exercise intolerance (HP:0003546)	1.85602274
80	Male pseudohermaphroditism (HP:0000037)	1.85251696
81	Abnormal respiratory motile cilium physiology (HP:0012261)	1.83502337
82	Generalized aminoaciduria (HP:0002909)	1.81706280
83	B lymphocytopenia (HP:0010976)	1.79778202
84	Humeroradial synostosis (HP:0003041)	1.79373105
85	Synostosis involving the elbow (HP:0003938)	1.79373105
86	Methylmalonic acidemia (HP:0002912)	1.78793658
87	Increased serum pyruvate (HP:0003542)	1.78498485
88	Increased hepatocellular lipid droplets (HP:0006565)	1.75852421
89	Hypomagnesemia (HP:0002917)	1.75540908
90	Methylmalonic aciduria (HP:0012120)	1.74674564
91	Orchitis (HP:0100796)	1.74369040
92	Hypoproteinemia (HP:0003075)	1.74164030
93	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.73672698
94	Aplasia/Hypoplasia of the patella (HP:0006498)	1.71735514
95	Decreased central vision (HP:0007663)	1.71053882
96	Abnormality of the 1st metacarpal (HP:0010009)	1.70958921
97	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	1.70326171
98	Postaxial hand polydactyly (HP:0001162)	1.70317295
99	Cerebellar dysplasia (HP:0007033)	1.69907617
100	Renal Fanconi syndrome (HP:0001994)	1.69572063

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.96109775
2	GRK1	3.09120862
3	PLK4	2.77986423
4	TESK2	2.74075606
5	FRK	2.67877969
6	BUB1	2.61049782
7	SIK3	2.60992650
8	TSSK6	2.48580753
9	NEK1	2.47117877
10	MST4	2.42318096
11	NUAK1	2.41157153
12	ADRBK2	2.20080978
13	TRIM28	1.99887102
14	LMTK2	1.79939063
15	VRK2	1.76764975
16	WNK4	1.75067778
17	BCR	1.64017444
18	WNK3	1.63422544
19	EPHA3	1.58027258
20	EIF2AK3	1.55116127
21	PINK1	1.48130027
22	VRK1	1.43858456
23	MAP3K12	1.43513911
24	ZAK	1.42078198
25	MAPK15	1.34631802
26	CASK	1.32120556
27	CAMKK2	1.29683778
28	EIF2AK1	1.26150399
29	SIK2	1.25818620
30	INSRR	1.22611683
31	BCKDK	1.21642400
32	STK38L	1.19209838
33	MAPKAPK5	1.18347321
34	CSNK1G3	1.16611392
35	TAOK3	1.10954847
36	PLK2	1.08153975
37	LIMK1	1.07712425
38	MAPK13	1.04563333
39	SRPK1	1.04184115
40	OXSR1	1.00769656
41	STK39	0.99995592
42	CSNK1G2	0.98935955
43	DYRK2	0.98424799
44	KDR	0.92239845
45	KIT	0.91061980
46	CSNK1G1	0.90855589
47	PLK3	0.89019749
48	CSNK1A1L	0.88759477
49	PHKG2	0.88466019
50	PHKG1	0.88466019
51	DAPK2	0.87670743
52	STK16	0.84151618
53	CCNB1	0.84055439
54	GRK7	0.83596153
55	TIE1	0.82600296
56	MUSK	0.82212596
57	STK3	0.81450009
58	PDK2	0.81178931
59	PIK3CG	0.76001947
60	PAK3	0.74015235
61	IKBKB	0.72330290
62	CDK19	0.71359916
63	TXK	0.71101624
64	ERBB3	0.71019026
65	MARK3	0.70395360
66	MAPKAPK3	0.66485441
67	TAF1	0.64308829
68	CDK8	0.63860007
69	NME1	0.63595349
70	DAPK1	0.62526955
71	IRAK1	0.61918086
72	RPS6KA5	0.60687697
73	MAP2K7	0.58698607
74	TLK1	0.58280068
75	TEC	0.54203356
76	PRKCE	0.51985575
77	FLT3	0.51614746
78	NEK2	0.51196235
79	MINK1	0.50811803
80	PRKCQ	0.47645774
81	BRSK2	0.46391528
82	CDC7	0.45047335
83	PRKCG	0.44417531
84	MYLK	0.42347926
85	TESK1	0.40236719
86	PRKACA	0.35973677
87	STK24	0.35105940
88	SYK	0.34929540
89	MAP3K4	0.32973674
90	CSNK2A1	0.32731007
91	MAPK11	0.31643021
92	PLK1	0.31020153
93	EPHA4	0.30832244
94	MARK1	0.29580570
95	CAMK2A	0.29364165
96	ADRBK1	0.29015851
97	ITK	0.28451512
98	GRK6	0.27774441
99	DYRK3	0.27492208
100	OBSCN	0.27386688

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.49452340
2	Proteasome_Homo sapiens_hsa03050	3.26902616
3	Protein export_Homo sapiens_hsa03060	3.03018346
4	Parkinsons disease_Homo sapiens_hsa05012	2.81154654
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.47190520
6	Sulfur metabolism_Homo sapiens_hsa00920	2.46570689
7	RNA polymerase_Homo sapiens_hsa03020	2.18899224
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.18079183
9	Phototransduction_Homo sapiens_hsa04744	1.90423666
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.87960028
11	Huntingtons disease_Homo sapiens_hsa05016	1.86088488
12	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.83823262
13	Butanoate metabolism_Homo sapiens_hsa00650	1.72222691
14	Primary immunodeficiency_Homo sapiens_hsa05340	1.70594932
15	Alzheimers disease_Homo sapiens_hsa05010	1.69870334
16	RNA degradation_Homo sapiens_hsa03018	1.65635532
17	Basal transcription factors_Homo sapiens_hsa03022	1.61505660
18	Propanoate metabolism_Homo sapiens_hsa00640	1.59891999
19	One carbon pool by folate_Homo sapiens_hsa00670	1.58495159
20	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.55820260
21	Collecting duct acid secretion_Homo sapiens_hsa04966	1.55178218
22	Homologous recombination_Homo sapiens_hsa03440	1.54237913
23	Ribosome_Homo sapiens_hsa03010	1.51669800
24	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.42504262
25	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40267331
26	Asthma_Homo sapiens_hsa05310	1.34281412
27	Pyrimidine metabolism_Homo sapiens_hsa00240	1.33614106
28	Retinol metabolism_Homo sapiens_hsa00830	1.32874559
29	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.30307821
30	Folate biosynthesis_Homo sapiens_hsa00790	1.29849809
31	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.28922628
32	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.28835423
33	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.28157425
34	Cardiac muscle contraction_Homo sapiens_hsa04260	1.27867357
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.26364920
36	Peroxisome_Homo sapiens_hsa04146	1.25634097
37	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.21502689
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.21106170
39	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.18462670
40	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.15550778
41	Linoleic acid metabolism_Homo sapiens_hsa00591	1.13385722
42	Non-homologous end-joining_Homo sapiens_hsa03450	1.11427387
43	Purine metabolism_Homo sapiens_hsa00230	1.09812269
44	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.09371887
45	Selenocompound metabolism_Homo sapiens_hsa00450	1.07457756
46	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.07155798
47	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.05987592
48	Regulation of autophagy_Homo sapiens_hsa04140	1.04111505
49	Base excision repair_Homo sapiens_hsa03410	1.03672262
50	Chemical carcinogenesis_Homo sapiens_hsa05204	1.03512055
51	Fatty acid elongation_Homo sapiens_hsa00062	1.03149503
52	Nucleotide excision repair_Homo sapiens_hsa03420	1.02869343
53	Nitrogen metabolism_Homo sapiens_hsa00910	1.01114265
54	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.99198129
55	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.98325056
56	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.95506622
57	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.92032267
58	Ether lipid metabolism_Homo sapiens_hsa00565	0.90101482
59	Mismatch repair_Homo sapiens_hsa03430	0.88117264
60	RNA transport_Homo sapiens_hsa03013	0.88031048
61	Rheumatoid arthritis_Homo sapiens_hsa05323	0.85253933
62	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84139458
63	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.82142053
64	Spliceosome_Homo sapiens_hsa03040	0.82098071
65	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.81437968
66	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.81432202
67	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.80963324
68	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80906353
69	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.80619965
70	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.80098089
71	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.76174132
72	Type I diabetes mellitus_Homo sapiens_hsa04940	0.76080968
73	Tryptophan metabolism_Homo sapiens_hsa00380	0.75655060
74	Steroid biosynthesis_Homo sapiens_hsa00100	0.74919059
75	Nicotine addiction_Homo sapiens_hsa05033	0.74863664
76	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.74614315
77	Metabolic pathways_Homo sapiens_hsa01100	0.74394309
78	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.67117100
79	Olfactory transduction_Homo sapiens_hsa04740	0.66740031
80	Allograft rejection_Homo sapiens_hsa05330	0.65985444
81	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.64742572
82	Graft-versus-host disease_Homo sapiens_hsa05332	0.61922721
83	DNA replication_Homo sapiens_hsa03030	0.61719646
84	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.61252858
85	Antigen processing and presentation_Homo sapiens_hsa04612	0.57601754
86	Morphine addiction_Homo sapiens_hsa05032	0.57322798
87	Taste transduction_Homo sapiens_hsa04742	0.56618415
88	Pyruvate metabolism_Homo sapiens_hsa00620	0.56137088
89	Tyrosine metabolism_Homo sapiens_hsa00350	0.51018596
90	Glutathione metabolism_Homo sapiens_hsa00480	0.47938195
91	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.46430287
92	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.44866138
93	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.42502825
94	Phenylalanine metabolism_Homo sapiens_hsa00360	0.42480680
95	GABAergic synapse_Homo sapiens_hsa04727	0.42110695
96	Circadian rhythm_Homo sapiens_hsa04710	0.41447090
97	Fatty acid degradation_Homo sapiens_hsa00071	0.41147018
98	Fat digestion and absorption_Homo sapiens_hsa04975	0.36779961
99	Serotonergic synapse_Homo sapiens_hsa04726	0.35079250
100	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.35074718

PPIAP19

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »