ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	epithelial cilium movement (GO:0003351)	5.08088753
2	platelet dense granule organization (GO:0060155)	4.86165033
3	intraciliary transport (GO:0042073)	4.51886816
4	DNA double-strand break processing (GO:0000729)	4.26335253
5	protein complex biogenesis (GO:0070271)	4.13555776
6	pyrimidine nucleobase catabolic process (GO:0006208)	4.12162737
7	cilium movement (GO:0003341)	4.10866141
8	cullin deneddylation (GO:0010388)	4.07440683
9	protein polyglutamylation (GO:0018095)	4.05442353
10	behavioral response to nicotine (GO:0035095)	3.93410847
11	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.92073558
12	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.92073558
13	NADH dehydrogenase complex assembly (GO:0010257)	3.92073558
14	response to pheromone (GO:0019236)	3.91719608
15	nonmotile primary cilium assembly (GO:0035058)	3.90072204
16	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.78679422
17	mitochondrial respiratory chain complex assembly (GO:0033108)	3.77013482
18	protein deneddylation (GO:0000338)	3.73730191
19	regulation of cilium movement (GO:0003352)	3.67662383
20	organelle disassembly (GO:1903008)	3.64860880
21	histone H2A acetylation (GO:0043968)	3.59206048
22	respiratory chain complex IV assembly (GO:0008535)	3.58816774
23	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	3.57474940
24	seminiferous tubule development (GO:0072520)	3.51283459
25	ubiquinone biosynthetic process (GO:0006744)	3.46562985
26	positive regulation of mitochondrial fission (GO:0090141)	3.44877358
27	nucleobase catabolic process (GO:0046113)	3.42765661
28	axoneme assembly (GO:0035082)	3.42734365
29	protein localization to cilium (GO:0061512)	3.37949234
30	negative regulation of telomere maintenance (GO:0032205)	3.31312591
31	mismatch repair (GO:0006298)	3.30227894
32	ubiquinone metabolic process (GO:0006743)	3.29484598
33	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.29415949
34	aggressive behavior (GO:0002118)	3.29309270
35	axonemal dynein complex assembly (GO:0070286)	3.28114411
36	cytochrome complex assembly (GO:0017004)	3.27843194
37	cilium or flagellum-dependent cell motility (GO:0001539)	3.27634580
38	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	3.25425184
39	pyrimidine dimer repair (GO:0006290)	3.24207042
40	DNA deamination (GO:0045006)	3.22262012
41	peptidyl-histidine modification (GO:0018202)	3.19198303
42	photoreceptor cell maintenance (GO:0045494)	3.18983382
43	L-fucose catabolic process (GO:0042355)	3.13372915
44	fucose catabolic process (GO:0019317)	3.13372915
45	L-fucose metabolic process (GO:0042354)	3.13372915
46	mannosylation (GO:0097502)	3.11527595
47	cilium organization (GO:0044782)	3.06328464
48	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	3.05353445
49	cellular ketone body metabolic process (GO:0046950)	3.03863232
50	cilium morphogenesis (GO:0060271)	3.01532093
51	DNA integration (GO:0015074)	3.00703127
52	ribonucleoprotein complex disassembly (GO:0032988)	2.99458026
53	cilium assembly (GO:0042384)	2.95264101
54	aldehyde catabolic process (GO:0046185)	2.90360278
55	branched-chain amino acid catabolic process (GO:0009083)	2.89458799
56	DNA ligation (GO:0006266)	2.89196739
57	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.88373284
58	protein prenylation (GO:0018342)	2.87269314
59	prenylation (GO:0097354)	2.87269314
60	GPI anchor metabolic process (GO:0006505)	2.85194626
61	anterograde synaptic vesicle transport (GO:0048490)	2.82303614
62	neural tube formation (GO:0001841)	2.80174294
63	adenosine metabolic process (GO:0046085)	2.79290214
64	iron-sulfur cluster assembly (GO:0016226)	2.78344402
65	metallo-sulfur cluster assembly (GO:0031163)	2.78344402
66	ketone body metabolic process (GO:1902224)	2.77531742
67	glial cell proliferation (GO:0014009)	2.75915677
68	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.75258803
69	protein localization to Golgi apparatus (GO:0034067)	2.75106187
70	cell wall macromolecule catabolic process (GO:0016998)	2.74469544
71	sperm motility (GO:0030317)	2.74032787
72	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.72388370
73	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.72388370
74	behavioral response to ethanol (GO:0048149)	2.72172069
75	quinone biosynthetic process (GO:1901663)	2.71876464
76	microtubule depolymerization (GO:0007019)	2.71070673
77	epithelial cell differentiation involved in kidney development (GO:0035850)	2.70717542
78	centriole replication (GO:0007099)	2.70054327
79	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.69481306
80	protein targeting to Golgi (GO:0000042)	2.69020518
81	establishment of protein localization to Golgi (GO:0072600)	2.66772928
82	ventricular system development (GO:0021591)	2.66001284
83	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.65514062
84	arginine catabolic process (GO:0006527)	2.64405701
85	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	2.63881167
86	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.63313693
87	GPI anchor biosynthetic process (GO:0006506)	2.60636844
88	dopamine transport (GO:0015872)	2.59729663
89	DNA catabolic process, exonucleolytic (GO:0000738)	2.57035935
90	replication fork processing (GO:0031297)	2.55317897
91	spermatid nucleus differentiation (GO:0007289)	2.54233066
92	C4-dicarboxylate transport (GO:0015740)	2.54079839
93	GTP biosynthetic process (GO:0006183)	2.53512263
94	C-terminal protein lipidation (GO:0006501)	2.53321624
95	rRNA methylation (GO:0031167)	2.48828761
96	2-deoxyribonucleotide biosynthetic process (GO:0009265)	2.48212142
97	deoxyribose phosphate biosynthetic process (GO:0046385)	2.48212142
98	tRNA processing (GO:0008033)	2.47221425
99	positive regulation of prostaglandin secretion (GO:0032308)	2.47166224
100	pseudouridine synthesis (GO:0001522)	2.46784765

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.64112786
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.37632180
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.26723767
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.16024671
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.94453595
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.92326300
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.90772528
8	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.61508717
9	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.53983974
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49135355
11	VDR_22108803_ChIP-Seq_LS180_Human	2.35310266
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.32153566
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.30789223
14	FUS_26573619_Chip-Seq_HEK293_Human	2.27825231
15	VDR_23849224_ChIP-Seq_CD4+_Human	2.25356905
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.22923103
17	ELK1_19687146_ChIP-ChIP_HELA_Human	2.18342647
18	EWS_26573619_Chip-Seq_HEK293_Human	2.18160578
19	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.05761204
20	TAF15_26573619_Chip-Seq_HEK293_Human	2.05215701
21	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.99691948
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.94432361
23	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.92616943
24	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.88927231
25	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.83298817
26	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.74573108
27	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.71736835
28	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.71422226
29	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.69623889
30	P300_19829295_ChIP-Seq_ESCs_Human	1.68574432
31	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.67849829
32	EZH2_22144423_ChIP-Seq_EOC_Human	1.67544130
33	FOXP3_21729870_ChIP-Seq_TREG_Human	1.67099080
34	CBP_20019798_ChIP-Seq_JUKART_Human	1.59678106
35	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.59678106
36	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.58829116
37	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.54715915
38	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.53032876
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.49090592
40	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.46852127
41	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.46684188
42	TP53_22573176_ChIP-Seq_HFKS_Human	1.46107623
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.45729094
44	ER_23166858_ChIP-Seq_MCF-7_Human	1.43988809
45	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.42937064
46	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.41849276
47	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.40811447
48	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.40524021
49	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.37412505
50	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.32779940
51	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.31132652
52	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.30310310
53	DCP1A_22483619_ChIP-Seq_HELA_Human	1.29908537
54	GABP_19822575_ChIP-Seq_HepG2_Human	1.23956555
55	IRF1_19129219_ChIP-ChIP_H3396_Human	1.23566380
56	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.23314761
57	BCAT_22108803_ChIP-Seq_LS180_Human	1.22326864
58	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.19555718
59	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.18554109
60	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17607245
61	SMAD4_21799915_ChIP-Seq_A2780_Human	1.16600383
62	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.15981345
63	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14393655
64	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14393655
65	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.12571104
66	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.12323352
67	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.11428366
68	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.11075318
69	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.10446804
70	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.09843756
71	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.08601372
72	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.07694575
73	AR_25329375_ChIP-Seq_VCAP_Human	1.07070592
74	CIITA_25753668_ChIP-Seq_RAJI_Human	1.05647169
75	STAT3_23295773_ChIP-Seq_U87_Human	1.05413095
76	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.05234271
77	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.05225984
78	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.04769812
79	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.04332900
80	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.03878349
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.03497342
82	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.03411019
83	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.01770368
84	SOX2_19829295_ChIP-Seq_ESCs_Human	1.01573593
85	NANOG_19829295_ChIP-Seq_ESCs_Human	1.01573593
86	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.01136004
87	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.00725800
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.00718572
89	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.00539895
90	P53_22387025_ChIP-Seq_ESCs_Mouse	0.99294811
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.98977917
92	TCF4_22108803_ChIP-Seq_LS180_Human	0.97405605
93	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.96987095
94	AR_20517297_ChIP-Seq_VCAP_Human	0.96797284
95	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.96342106
96	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.96288738
97	TCF4_23295773_ChIP-Seq_U87_Human	0.95845938
98	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.95510934
99	NCOR_22424771_ChIP-Seq_293T_Human	0.95475704
100	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.95116085

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001529_abnormal_vocalization	3.55410845
2	MP0003880_abnormal_central_pattern	3.17624969
3	MP0003806_abnormal_nucleotide_metabolis	3.07583011
4	MP0008058_abnormal_DNA_repair	3.05635444
5	MP0005645_abnormal_hypothalamus_physiol	2.88900972
6	MP0003787_abnormal_imprinting	2.78820945
7	MP0000372_irregular_coat_pigmentation	2.56021042
8	MP0005646_abnormal_pituitary_gland	2.51547537
9	MP0004043_abnormal_pH_regulation	2.40739676
10	MP0001984_abnormal_olfaction	2.32909862
11	MP0008789_abnormal_olfactory_epithelium	2.31740484
12	MP0005499_abnormal_olfactory_system	2.25715509
13	MP0005394_taste/olfaction_phenotype	2.25715509
14	MP0006276_abnormal_autonomic_nervous	2.23412685
15	MP0009697_abnormal_copulation	2.18249796
16	MP0002653_abnormal_ependyma_morphology	2.13064610
17	MP0006072_abnormal_retinal_apoptosis	2.06355907
18	MP0003786_premature_aging	1.98545290
19	MP0008995_early_reproductive_senescence	1.94176033
20	MP0005551_abnormal_eye_electrophysiolog	1.87511576
21	MP0001764_abnormal_homeostasis	1.85971932
22	MP0003121_genomic_imprinting	1.84859211
23	MP0002234_abnormal_pharynx_morphology	1.78365530
24	MP0009046_muscle_twitch	1.78294732
25	MP0005253_abnormal_eye_physiology	1.68043217
26	MP0008877_abnormal_DNA_methylation	1.66146484
27	MP0002822_catalepsy	1.63503402
28	MP0002638_abnormal_pupillary_reflex	1.58504295
29	MP0002102_abnormal_ear_morphology	1.55446795
30	MP0006036_abnormal_mitochondrial_physio	1.53336596
31	MP0003195_calcinosis	1.52293470
32	MP0005410_abnormal_fertilization	1.45337693
33	MP0002095_abnormal_skin_pigmentation	1.44246274
34	MP0004142_abnormal_muscle_tone	1.42583078
35	MP0005075_abnormal_melanosome_morpholog	1.42543648
36	MP0000516_abnormal_urinary_system	1.42454313
37	MP0005367_renal/urinary_system_phenotyp	1.42454313
38	MP0006035_abnormal_mitochondrial_morpho	1.41860509
39	MP0004147_increased_porphyrin_level	1.39998887
40	MP0001986_abnormal_taste_sensitivity	1.39039240
41	MP0010386_abnormal_urinary_bladder	1.38639878
42	MP0001968_abnormal_touch/_nociception	1.36300526
43	MP0001486_abnormal_startle_reflex	1.36028159
44	MP0003718_maternal_effect	1.31619775
45	MP0008872_abnormal_physiological_respon	1.29779673
46	MP0009745_abnormal_behavioral_response	1.29598803
47	MP0000631_abnormal_neuroendocrine_gland	1.27744226
48	MP0002272_abnormal_nervous_system	1.27686401
49	MP0008875_abnormal_xenobiotic_pharmacok	1.25222625
50	MP0002938_white_spotting	1.23209892
51	MP0005084_abnormal_gallbladder_morpholo	1.18646797
52	MP0006292_abnormal_olfactory_placode	1.17613505
53	MP0002572_abnormal_emotion/affect_behav	1.16620099
54	MP0002557_abnormal_social/conspecific_i	1.16462288
55	MP0000015_abnormal_ear_pigmentation	1.16029099
56	MP0001501_abnormal_sleep_pattern	1.15900384
57	MP0000569_abnormal_digit_pigmentation	1.14213103
58	MP0002751_abnormal_autonomic_nervous	1.12811614
59	MP0001929_abnormal_gametogenesis	1.07417318
60	MP0005423_abnormal_somatic_nervous	1.07225920
61	MP0003698_abnormal_male_reproductive	1.06767476
62	MP0002736_abnormal_nociception_after	1.06743747
63	MP0001664_abnormal_digestion	1.04841795
64	MP0003186_abnormal_redox_activity	1.04825079
65	MP0006054_spinal_hemorrhage	1.04548526
66	MP0002282_abnormal_trachea_morphology	1.03464195
67	MP0004145_abnormal_muscle_electrophysio	1.03394726
68	MP0003122_maternal_imprinting	1.03197181
69	MP0000778_abnormal_nervous_system	1.03078764
70	MP0003950_abnormal_plasma_membrane	0.92512363
71	MP0010094_abnormal_chromosome_stability	0.91218507
72	MP0005174_abnormal_tail_pigmentation	0.91057063
73	MP0003693_abnormal_embryo_hatching	0.87095040
74	MP0000427_abnormal_hair_cycle	0.86776661
75	MP0004924_abnormal_behavior	0.84964596
76	MP0005386_behavior/neurological_phenoty	0.84964596
77	MP0001905_abnormal_dopamine_level	0.84785106
78	MP0001177_atelectasis	0.82141675
79	MP0002734_abnormal_mechanical_nocicepti	0.81300984
80	MP0001324_abnormal_eye_pigmentation	0.80462556
81	MP0002229_neurodegeneration	0.75294944
82	MP0001970_abnormal_pain_threshold	0.75024029
83	MP0000013_abnormal_adipose_tissue	0.74985385
84	MP0002752_abnormal_somatic_nervous	0.74602418
85	MP0005248_abnormal_Harderian_gland	0.74500731
86	MP0002064_seizures	0.74478636
87	MP0005266_abnormal_metabolism	0.74365031
88	MP0005195_abnormal_posterior_eye	0.73395589
89	MP0002090_abnormal_vision	0.72993047
90	MP0002067_abnormal_sensory_capabilities	0.72302698
91	MP0000653_abnormal_sex_gland	0.71057028
92	MP0001119_abnormal_female_reproductive	0.70654843
93	MP0004133_heterotaxia	0.69516468
94	MP0003635_abnormal_synaptic_transmissio	0.68936796
95	MP0001963_abnormal_hearing_physiology	0.68806986
96	MP0000026_abnormal_inner_ear	0.68437835
97	MP0002876_abnormal_thyroid_physiology	0.66944418
98	MP0005391_vision/eye_phenotype	0.66519568
99	MP0005171_absent_coat_pigmentation	0.66190758
100	MP0002882_abnormal_neuron_morphology	0.65644249

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hepatocellular necrosis (HP:0001404)	4.59193072
2	Mitochondrial inheritance (HP:0001427)	4.20727430
3	Medial flaring of the eyebrow (HP:0010747)	4.20031897
4	Acute necrotizing encephalopathy (HP:0006965)	4.19265454
5	Hepatic necrosis (HP:0002605)	4.15896639
6	Nephronophthisis (HP:0000090)	4.00768023
7	Abnormal mitochondria in muscle tissue (HP:0008316)	3.95320037
8	Acute encephalopathy (HP:0006846)	3.94224483
9	3-Methylglutaconic aciduria (HP:0003535)	3.93482204
10	Microvesicular hepatic steatosis (HP:0001414)	3.71537427
11	Pancreatic fibrosis (HP:0100732)	3.68959278
12	Increased CSF lactate (HP:0002490)	3.68894452
13	Abnormality of midbrain morphology (HP:0002418)	3.68800633
14	Molar tooth sign on MRI (HP:0002419)	3.68800633
15	Progressive macrocephaly (HP:0004481)	3.53898175
16	Tubulointerstitial nephritis (HP:0001970)	3.39767632
17	Pancreatic cysts (HP:0001737)	3.33668443
18	Renal Fanconi syndrome (HP:0001994)	3.28359826
19	True hermaphroditism (HP:0010459)	3.27628106
20	Congenital primary aphakia (HP:0007707)	3.24003161
21	Gait imbalance (HP:0002141)	3.21503255
22	Abnormality of the renal medulla (HP:0100957)	3.16190600
23	Increased hepatocellular lipid droplets (HP:0006565)	3.10995695
24	Abnormal ciliary motility (HP:0012262)	3.10865620
25	Nephrogenic diabetes insipidus (HP:0009806)	3.06299479
26	Abnormal respiratory motile cilium morphology (HP:0005938)	3.00704690
27	Abnormal respiratory epithelium morphology (HP:0012253)	3.00704690
28	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.98221043
29	Absent/shortened dynein arms (HP:0200106)	2.98221043
30	Lipid accumulation in hepatocytes (HP:0006561)	2.89412244
31	Abnormal respiratory motile cilium physiology (HP:0012261)	2.85957254
32	Increased serum lactate (HP:0002151)	2.82525756
33	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.76987484
34	Abnormality of renal resorption (HP:0011038)	2.63886597
35	Cerebral edema (HP:0002181)	2.63613060
36	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.60553155
37	Attenuation of retinal blood vessels (HP:0007843)	2.58280368
38	Genital tract atresia (HP:0001827)	2.56104558
39	Optic disc pallor (HP:0000543)	2.53696088
40	Lactic acidosis (HP:0003128)	2.52545534
41	Abnormality of macular pigmentation (HP:0008002)	2.51209848
42	Hypothermia (HP:0002045)	2.50897849
43	Increased intramyocellular lipid droplets (HP:0012240)	2.50147586
44	Abnormality of the renal cortex (HP:0011035)	2.48511649
45	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.45354154
46	Respiratory failure (HP:0002878)	2.39000154
47	Vaginal atresia (HP:0000148)	2.35630375
48	Dyschromatopsia (HP:0007641)	2.31054432
49	Abnormal biliary tract physiology (HP:0012439)	2.29757062
50	Bile duct proliferation (HP:0001408)	2.29757062
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.28814703
52	Congenital hepatic fibrosis (HP:0002612)	2.28299448
53	Abolished electroretinogram (ERG) (HP:0000550)	2.27175861
54	Exercise intolerance (HP:0003546)	2.25469539
55	Renal cortical cysts (HP:0000803)	2.24893454
56	Metaphyseal dysplasia (HP:0100255)	2.23597402
57	Postaxial foot polydactyly (HP:0001830)	2.23299536
58	Postaxial hand polydactyly (HP:0001162)	2.21482330
59	Atonic seizures (HP:0010819)	2.18647333
60	CNS demyelination (HP:0007305)	2.15124895
61	Tubulointerstitial abnormality (HP:0001969)	2.14512504
62	Occipital encephalocele (HP:0002085)	2.13997446
63	Cystic liver disease (HP:0006706)	2.12955109
64	Abnormal protein glycosylation (HP:0012346)	2.09094113
65	Abnormal glycosylation (HP:0012345)	2.09094113
66	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.09094113
67	Abnormal protein N-linked glycosylation (HP:0012347)	2.09094113
68	Rhinitis (HP:0012384)	2.08972937
69	Emotional lability (HP:0000712)	2.06697266
70	Aplastic anemia (HP:0001915)	2.01051787
71	Abnormality of lateral ventricle (HP:0030047)	1.99890222
72	Type I transferrin isoform profile (HP:0003642)	1.99725945
73	Cerebellar dysplasia (HP:0007033)	1.99650057
74	Anencephaly (HP:0002323)	1.98486659
75	Increased serum pyruvate (HP:0003542)	1.96192456
76	Prominent nasal bridge (HP:0000426)	1.96030361
77	Increased muscle lipid content (HP:0009058)	1.95973466
78	Poor coordination (HP:0002370)	1.95102098
79	Lissencephaly (HP:0001339)	1.94725631
80	Broad foot (HP:0001769)	1.93149119
81	Sclerocornea (HP:0000647)	1.89583719
82	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.88381071
83	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.88381071
84	Concave nail (HP:0001598)	1.88125947
85	Retinal dysplasia (HP:0007973)	1.87480233
86	Progressive microcephaly (HP:0000253)	1.81012841
87	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.80431818
88	Lethargy (HP:0001254)	1.80067247
89	Abnormality of methionine metabolism (HP:0010901)	1.80027901
90	Decreased central vision (HP:0007663)	1.79506263
91	Long clavicles (HP:0000890)	1.79023134
92	Narrow forehead (HP:0000341)	1.78958453
93	Chronic hepatic failure (HP:0100626)	1.78345110
94	Glycosuria (HP:0003076)	1.76035520
95	Abnormality of urine glucose concentration (HP:0011016)	1.76035520
96	Aganglionic megacolon (HP:0002251)	1.75973889
97	Limb hypertonia (HP:0002509)	1.75789634
98	Male pseudohermaphroditism (HP:0000037)	1.75298620
99	Exertional dyspnea (HP:0002875)	1.74600924
100	Short tibia (HP:0005736)	1.73940570

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	4.62587014
2	TAOK3	4.16952029
3	NUAK1	3.61136620
4	WNK3	3.06511041
5	CASK	2.60657230
6	CCNB1	2.56311331
7	BCKDK	2.36171571
8	PBK	2.25952746
9	MAP3K4	2.25652061
10	MAP2K7	2.14229244
11	BCR	2.01278427
12	PINK1	1.83230965
13	MAPK13	1.82120999
14	STK38L	1.77593113
15	LATS1	1.75337111
16	STK16	1.69708868
17	PLK4	1.54811973
18	ZAK	1.54112217
19	VRK2	1.51594987
20	BMPR1B	1.50019869
21	ERBB3	1.48764845
22	CSNK1G3	1.47746296
23	CSNK1G2	1.47607348
24	FRK	1.40246811
25	SRPK1	1.32867225
26	VRK1	1.30983818
27	TRIM28	1.21279968
28	CSNK1G1	1.18854229
29	PDK2	1.16694616
30	CSNK1A1L	1.15536479
31	TNIK	1.14362707
32	INSRR	1.11856629
33	FLT3	1.10477164
34	DYRK2	1.10255186
35	EPHA3	1.03236031
36	BRSK2	1.00976837
37	MARK1	1.00776545
38	MST4	0.98173468
39	TIE1	0.97938169
40	PAK3	0.92199176
41	GRK1	0.91365695
42	IRAK1	0.90523729
43	BUB1	0.89875055
44	ADRBK2	0.89728407
45	TEC	0.88645337
46	EIF2AK3	0.85229303
47	MARK3	0.82278009
48	PLK2	0.77992918
49	DAPK1	0.77834594
50	KIT	0.77777996
51	PRKCE	0.76271482
52	LMTK2	0.74132276
53	NEK1	0.71041671
54	IRAK2	0.70964788
55	MAP2K4	0.68807362
56	UHMK1	0.68788692
57	ATR	0.67411543
58	PTK2B	0.67269008
59	DYRK3	0.67016204
60	PLK1	0.65218160
61	PLK3	0.63236153
62	PKN1	0.60877800
63	DYRK1B	0.56739124
64	NME1	0.53985420
65	AURKB	0.50885377
66	CDK19	0.50791160
67	PIM2	0.50701753
68	ATM	0.49741531
69	PRKCQ	0.49229680
70	OXSR1	0.48744185
71	PRKCG	0.48479529
72	RPS6KA5	0.48254724
73	MKNK1	0.47568059
74	MKNK2	0.46436724
75	TESK2	0.46290572
76	MAP3K5	0.44289583
77	CAMK2A	0.43676263
78	PRKD3	0.42581746
79	DYRK1A	0.41531481
80	CDC7	0.40872879
81	OBSCN	0.40328941
82	CDK8	0.37195615
83	CSNK1A1	0.34946459
84	PRKG2	0.34920696
85	PRKACA	0.34494008
86	CSNK1D	0.31910166
87	FER	0.31135822
88	TTK	0.30957983
89	ABL1	0.30131144
90	MINK1	0.29926581
91	CSNK2A1	0.29910135
92	KDR	0.29825538
93	MUSK	0.28810079
94	PRKACB	0.28371921
95	PRKG1	0.27946809
96	PRKCA	0.27530655
97	ADRBK1	0.26957233
98	SYK	0.26493621
99	MATK	0.26291768
100	WNK4	0.26228231

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.14905064
2	Protein export_Homo sapiens_hsa03060	3.13761596
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.12898229
4	Proteasome_Homo sapiens_hsa03050	3.09635558
5	Parkinsons disease_Homo sapiens_hsa05012	2.79784077
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.79500783
7	Fatty acid elongation_Homo sapiens_hsa00062	2.43435603
8	Propanoate metabolism_Homo sapiens_hsa00640	2.37245103
9	Butanoate metabolism_Homo sapiens_hsa00650	2.24894099
10	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.16335668
11	Huntingtons disease_Homo sapiens_hsa05016	1.94866780
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.94859671
13	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.86728637
14	Nicotine addiction_Homo sapiens_hsa05033	1.79097098
15	Non-homologous end-joining_Homo sapiens_hsa03450	1.77798324
16	Homologous recombination_Homo sapiens_hsa03440	1.69020558
17	Peroxisome_Homo sapiens_hsa04146	1.67074093
18	Base excision repair_Homo sapiens_hsa03410	1.63841504
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.63041852
20	Alzheimers disease_Homo sapiens_hsa05010	1.60931668
21	Phototransduction_Homo sapiens_hsa04744	1.58286117
22	Basal transcription factors_Homo sapiens_hsa03022	1.56809783
23	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.52975094
24	Nucleotide excision repair_Homo sapiens_hsa03420	1.50779131
25	RNA degradation_Homo sapiens_hsa03018	1.48559879
26	RNA polymerase_Homo sapiens_hsa03020	1.44999422
27	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.41561819
28	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.37798126
29	Regulation of autophagy_Homo sapiens_hsa04140	1.35992904
30	Nitrogen metabolism_Homo sapiens_hsa00910	1.34516399
31	Taste transduction_Homo sapiens_hsa04742	1.31365235
32	RNA transport_Homo sapiens_hsa03013	1.23755009
33	Pyrimidine metabolism_Homo sapiens_hsa00240	1.23713326
34	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.22795294
35	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.22188271
36	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.19976182
37	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.16452352
38	Olfactory transduction_Homo sapiens_hsa04740	1.15678478
39	Steroid biosynthesis_Homo sapiens_hsa00100	1.11992535
40	Sulfur metabolism_Homo sapiens_hsa00920	1.10466670
41	Purine metabolism_Homo sapiens_hsa00230	1.10437196
42	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.07274989
43	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.05959939
44	Fatty acid metabolism_Homo sapiens_hsa01212	1.04918832
45	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.04882237
46	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.03658664
47	Mismatch repair_Homo sapiens_hsa03430	1.02668351
48	Chemical carcinogenesis_Homo sapiens_hsa05204	1.01865362
49	Ether lipid metabolism_Homo sapiens_hsa00565	0.99065751
50	DNA replication_Homo sapiens_hsa03030	0.98961300
51	Spliceosome_Homo sapiens_hsa03040	0.97280574
52	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.96926486
53	Linoleic acid metabolism_Homo sapiens_hsa00591	0.96356020
54	Glutathione metabolism_Homo sapiens_hsa00480	0.92326786
55	GABAergic synapse_Homo sapiens_hsa04727	0.91963036
56	Metabolic pathways_Homo sapiens_hsa01100	0.88381021
57	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.85210035
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.85017441
59	Collecting duct acid secretion_Homo sapiens_hsa04966	0.84687160
60	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.84389811
61	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84324810
62	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.83664644
63	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.80861189
64	Oocyte meiosis_Homo sapiens_hsa04114	0.80563431
65	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.80387469
66	Cardiac muscle contraction_Homo sapiens_hsa04260	0.79560981
67	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.78207597
68	Pyruvate metabolism_Homo sapiens_hsa00620	0.78092061
69	Tryptophan metabolism_Homo sapiens_hsa00380	0.77316558
70	Selenocompound metabolism_Homo sapiens_hsa00450	0.77113689
71	Type I diabetes mellitus_Homo sapiens_hsa04940	0.76090523
72	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.73160779
73	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.72373753
74	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.63912826
75	Fatty acid degradation_Homo sapiens_hsa00071	0.63168313
76	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.62563703
77	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.60000969
78	Retinol metabolism_Homo sapiens_hsa00830	0.59034182
79	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53501918
80	Allograft rejection_Homo sapiens_hsa05330	0.51682168
81	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.51679617
82	Asthma_Homo sapiens_hsa05310	0.51669388
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.50718468
84	Tyrosine metabolism_Homo sapiens_hsa00350	0.48821937
85	Salivary secretion_Homo sapiens_hsa04970	0.47283866
86	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.47265882
87	Carbon metabolism_Homo sapiens_hsa01200	0.42779190
88	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.41863413
89	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.39183238
90	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.37735886
91	Rheumatoid arthritis_Homo sapiens_hsa05323	0.36966175
92	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.36262502
93	Circadian entrainment_Homo sapiens_hsa04713	0.34672157
94	Folate biosynthesis_Homo sapiens_hsa00790	0.34563636
95	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.33706387
96	Legionellosis_Homo sapiens_hsa05134	0.32727268
97	Alcoholism_Homo sapiens_hsa05034	0.31896605
98	Caffeine metabolism_Homo sapiens_hsa00232	0.30954649
99	Morphine addiction_Homo sapiens_hsa05032	0.30362026
100	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.29291870

PMS2P6

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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