ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	4.45685419
2	intraciliary transport (GO:0042073)	4.35185241
3	protein complex biogenesis (GO:0070271)	4.21432438
4	respiratory chain complex IV assembly (GO:0008535)	4.02547037
5	regulation of cilium movement (GO:0003352)	3.99983542
6	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.99320976
7	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.99320976
8	NADH dehydrogenase complex assembly (GO:0010257)	3.99320976
9	mitochondrial respiratory chain complex assembly (GO:0033108)	3.85507589
10	cullin deneddylation (GO:0010388)	3.84510054
11	water-soluble vitamin biosynthetic process (GO:0042364)	3.77703896
12	nonmotile primary cilium assembly (GO:0035058)	3.72619164
13	cytochrome complex assembly (GO:0017004)	3.62742392
14	platelet dense granule organization (GO:0060155)	3.60648733
15	protein localization to cilium (GO:0061512)	3.55335205
16	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.47319734
17	positive regulation of mitochondrial fission (GO:0090141)	3.43356011
18	protein deneddylation (GO:0000338)	3.42953387
19	DNA double-strand break processing (GO:0000729)	3.40017203
20	protein-cofactor linkage (GO:0018065)	3.34353516
21	proteasome assembly (GO:0043248)	3.23120370
22	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.23079677
23	gamma-aminobutyric acid transport (GO:0015812)	3.18304659
24	epithelial cilium movement (GO:0003351)	3.14618773
25	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.11441861
26	pyrimidine nucleobase catabolic process (GO:0006208)	3.10186764
27	presynaptic membrane assembly (GO:0097105)	3.05603080
28	protein neddylation (GO:0045116)	3.04960809
29	preassembly of GPI anchor in ER membrane (GO:0016254)	3.03127100
30	neuronal action potential propagation (GO:0019227)	3.02844681
31	seminiferous tubule development (GO:0072520)	3.00798734
32	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.99638599
33	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.99638599
34	mannosylation (GO:0097502)	2.98683093
35	cilium organization (GO:0044782)	2.98297710
36	anterograde synaptic vesicle transport (GO:0048490)	2.97988468
37	cilium assembly (GO:0042384)	2.96340283
38	negative regulation of heart rate (GO:0010459)	2.90233349
39	ATP synthesis coupled proton transport (GO:0015986)	2.89756402
40	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.89756402
41	GPI anchor metabolic process (GO:0006505)	2.88845289
42	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.87774114
43	presynaptic membrane organization (GO:0097090)	2.87172366
44	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.87172323
45	acrosome reaction (GO:0007340)	2.81724163
46	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.81299418
47	respiratory electron transport chain (GO:0022904)	2.80900835
48	electron transport chain (GO:0022900)	2.78781680
49	axoneme assembly (GO:0035082)	2.76538397
50	cilium morphogenesis (GO:0060271)	2.75486899
51	protein polyglutamylation (GO:0018095)	2.72528977
52	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.71584177
53	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.70759806
54	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.70512599
55	C4-dicarboxylate transport (GO:0015740)	2.67876958
56	aldehyde catabolic process (GO:0046185)	2.66912726
57	chaperone-mediated protein transport (GO:0072321)	2.66766313
58	glycosphingolipid biosynthetic process (GO:0006688)	2.65766845
59	neuron cell-cell adhesion (GO:0007158)	2.64546424
60	metallo-sulfur cluster assembly (GO:0031163)	2.64449273
61	iron-sulfur cluster assembly (GO:0016226)	2.64449273
62	transmission of nerve impulse (GO:0019226)	2.64262031
63	retinal rod cell development (GO:0046548)	2.61932647
64	C-terminal protein lipidation (GO:0006501)	2.60824881
65	positive regulation of amino acid transport (GO:0051957)	2.59191700
66	cilium movement (GO:0003341)	2.58375563
67	ubiquinone biosynthetic process (GO:0006744)	2.58137678
68	branched-chain amino acid catabolic process (GO:0009083)	2.56247837
69	L-methionine salvage (GO:0071267)	2.55715274
70	L-methionine biosynthetic process (GO:0071265)	2.55715274
71	amino acid salvage (GO:0043102)	2.55715274
72	DNA deamination (GO:0045006)	2.55364558
73	dopamine transport (GO:0015872)	2.54226826
74	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.54172637
75	ubiquinone metabolic process (GO:0006743)	2.53926994
76	postsynaptic membrane organization (GO:0001941)	2.52893798
77	retinal cone cell development (GO:0046549)	2.51740247
78	nucleobase catabolic process (GO:0046113)	2.50258857
79	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.49773469
80	ATP hydrolysis coupled proton transport (GO:0015991)	2.49773469
81	sperm motility (GO:0030317)	2.48506446
82	GPI anchor biosynthetic process (GO:0006506)	2.48401029
83	regulation of microtubule-based movement (GO:0060632)	2.45265381
84	negative regulation of telomere maintenance (GO:0032205)	2.44835073
85	neural tube formation (GO:0001841)	2.44725872
86	anterograde axon cargo transport (GO:0008089)	2.44538998
87	glycolipid biosynthetic process (GO:0009247)	2.44239719
88	C-terminal protein amino acid modification (GO:0018410)	2.43208054
89	negative regulation of response to food (GO:0032096)	2.42860891
90	negative regulation of appetite (GO:0032099)	2.42860891
91	synaptic vesicle exocytosis (GO:0016079)	2.41668795
92	base-excision repair, AP site formation (GO:0006285)	2.41123244
93	photoreceptor cell maintenance (GO:0045494)	2.40957404
94	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.40527918
95	prenylation (GO:0097354)	2.39800514
96	protein prenylation (GO:0018342)	2.39800514
97	intracellular protein transmembrane import (GO:0044743)	2.39018063
98	negative regulation of membrane potential (GO:0045837)	2.38646854
99	pyrimidine nucleotide catabolic process (GO:0006244)	2.38190597
100	DNA integration (GO:0015074)	2.36013449

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.49314187
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.14328274
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.03314446
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.00380266
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.84856353
6	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.74341413
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.71784897
8	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.68475948
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.64271469
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.60259108
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.47951600
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.42508308
13	VDR_22108803_ChIP-Seq_LS180_Human	2.40926102
14	FUS_26573619_Chip-Seq_HEK293_Human	2.22846986
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.14925073
16	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.13428104
17	EWS_26573619_Chip-Seq_HEK293_Human	2.06590667
18	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.04752475
19	P300_19829295_ChIP-Seq_ESCs_Human	2.00225570
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.98567040
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.89068177
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.88593583
23	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.79510801
24	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.78839179
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.75650679
26	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.75352056
27	VDR_23849224_ChIP-Seq_CD4+_Human	1.74130784
28	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.66969019
29	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.62274704
30	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.62244962
31	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.60627100
32	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.58477645
33	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.57768539
34	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.54833482
35	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.53166810
36	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.51698378
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.50841387
38	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.50841387
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50448739
40	ER_23166858_ChIP-Seq_MCF-7_Human	1.49205596
41	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.49104276
42	* TP53_22573176_ChIP-Seq_HFKS_Human	1.46073553
43	SMAD4_21799915_ChIP-Seq_A2780_Human	1.45617945
44	MYC_18940864_ChIP-ChIP_HL60_Human	1.45457642
45	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44967140
46	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.39554340
47	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.38911444
48	RNF2_27304074_Chip-Seq_NSC_Mouse	1.37139565
49	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.35640599
50	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31913116
51	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31731950
52	* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.27547679
53	AR_25329375_ChIP-Seq_VCAP_Human	1.25892063
54	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.25870379
55	REST_21632747_ChIP-Seq_MESCs_Mouse	1.23715078
56	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.22499554
57	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.22287790
58	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.21693716
59	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.21661418
60	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21568291
61	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21568291
62	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.21073002
63	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.20751547
64	BCAT_22108803_ChIP-Seq_LS180_Human	1.20152620
65	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.19974567
66	FOXP3_21729870_ChIP-Seq_TREG_Human	1.18978015
67	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.18454496
68	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.18081245
69	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.15724999
70	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.15533931
71	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.14050785
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.12598428
73	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.12263782
74	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.12218967
75	STAT3_23295773_ChIP-Seq_U87_Human	1.12075955
76	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.12044597
77	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.11789852
78	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.11378022
79	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.10455567
80	RUNX2_22187159_ChIP-Seq_PCA_Human	1.10386366
81	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.10125521
82	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.09544835
83	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.09347634
84	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.09197530
85	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.09164564
86	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.09164564
87	P53_22387025_ChIP-Seq_ESCs_Mouse	1.08874653
88	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.07984961
89	TCF4_23295773_ChIP-Seq_U87_Human	1.07944457
90	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.06998414
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.06744410
92	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.04468467
93	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.03329855
94	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.02729068
95	HTT_18923047_ChIP-ChIP_STHdh_Human	1.01643510
96	TCF4_22108803_ChIP-Seq_LS180_Human	1.01210661
97	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.00071174
98	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.00071174
99	JUN_21703547_ChIP-Seq_K562_Human	0.98540807
100	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.96984128

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	3.90924967
2	MP0002102_abnormal_ear_morphology	2.77697331
3	MP0001984_abnormal_olfaction	2.70138863
4	MP0000372_irregular_coat_pigmentation	2.61133354
5	MP0009046_muscle_twitch	2.48682422
6	MP0001529_abnormal_vocalization	2.33939060
7	MP0008877_abnormal_DNA_methylation	2.32532721
8	MP0004859_abnormal_synaptic_plasticity	2.23059120
9	MP0006276_abnormal_autonomic_nervous	2.22590311
10	MP0001968_abnormal_touch/_nociception	2.21010361
11	MP0002653_abnormal_ependyma_morphology	2.18772748
12	MP0002736_abnormal_nociception_after	2.12007478
13	MP0008789_abnormal_olfactory_epithelium	2.08518445
14	MP0003136_yellow_coat_color	2.06692938
15	MP0002272_abnormal_nervous_system	2.05812235
16	MP0004147_increased_porphyrin_level	1.98938510
17	MP0001486_abnormal_startle_reflex	1.97169993
18	MP0009745_abnormal_behavioral_response	1.95788343
19	MP0005551_abnormal_eye_electrophysiolog	1.92500386
20	MP0002638_abnormal_pupillary_reflex	1.91778798
21	MP0003787_abnormal_imprinting	1.91255815
22	MP0003122_maternal_imprinting	1.89339397
23	MP0006072_abnormal_retinal_apoptosis	1.82447098
24	MP0005253_abnormal_eye_physiology	1.79285539
25	MP0003011_delayed_dark_adaptation	1.79174563
26	MP0006292_abnormal_olfactory_placode	1.76140260
27	MP0005499_abnormal_olfactory_system	1.75957458
28	MP0005394_taste/olfaction_phenotype	1.75957458
29	MP0005646_abnormal_pituitary_gland	1.74100456
30	MP0004142_abnormal_muscle_tone	1.74062024
31	MP0005171_absent_coat_pigmentation	1.71020190
32	MP0003635_abnormal_synaptic_transmissio	1.68862994
33	MP0002064_seizures	1.67676648
34	MP0002735_abnormal_chemical_nociception	1.63808813
35	MP0005645_abnormal_hypothalamus_physiol	1.59242837
36	MP0002572_abnormal_emotion/affect_behav	1.58959894
37	MP0004270_analgesia	1.54270911
38	MP0001986_abnormal_taste_sensitivity	1.52782855
39	MP0002822_catalepsy	1.51836347
40	MP0003121_genomic_imprinting	1.43226128
41	MP0006036_abnormal_mitochondrial_physio	1.42592657
42	MP0002938_white_spotting	1.42296280
43	MP0002090_abnormal_vision	1.40637137
44	MP0008058_abnormal_DNA_repair	1.40446721
45	MP0002734_abnormal_mechanical_nocicepti	1.39503052
46	MP0005423_abnormal_somatic_nervous	1.39135870
47	MP0005367_renal/urinary_system_phenotyp	1.38960863
48	MP0000516_abnormal_urinary_system	1.38960863
49	MP0004885_abnormal_endolymph	1.38253160
50	MP0002063_abnormal_learning/memory/cond	1.34054572
51	MP0010386_abnormal_urinary_bladder	1.33760799
52	MP0002067_abnormal_sensory_capabilities	1.32234327
53	MP0001970_abnormal_pain_threshold	1.30454458
54	MP0002557_abnormal_social/conspecific_i	1.29515540
55	MP0001485_abnormal_pinna_reflex	1.26545290
56	MP0001905_abnormal_dopamine_level	1.25620595
57	MP0005075_abnormal_melanosome_morpholog	1.25411860
58	MP0002095_abnormal_skin_pigmentation	1.23034208
59	MP0000569_abnormal_digit_pigmentation	1.22528603
60	MP0002234_abnormal_pharynx_morphology	1.21258787
61	MP0005174_abnormal_tail_pigmentation	1.19759124
62	MP0000778_abnormal_nervous_system	1.19441540
63	MP0002837_dystrophic_cardiac_calcinosis	1.17503111
64	MP0001501_abnormal_sleep_pattern	1.17184952
65	MP0000631_abnormal_neuroendocrine_gland	1.15922955
66	MP0004742_abnormal_vestibular_system	1.09343484
67	MP0001963_abnormal_hearing_physiology	1.08819086
68	MP0002751_abnormal_autonomic_nervous	1.08619133
69	MP0005410_abnormal_fertilization	1.08008966
70	MP0002229_neurodegeneration	1.07388339
71	MP0005084_abnormal_gallbladder_morpholo	1.07122233
72	MP0005386_behavior/neurological_phenoty	1.06904252
73	MP0004924_abnormal_behavior	1.06904252
74	MP0003186_abnormal_redox_activity	1.04690004
75	MP0003195_calcinosis	1.02385881
76	MP0006035_abnormal_mitochondrial_morpho	1.01251460
77	MP0008872_abnormal_physiological_respon	0.99147446
78	MP0001764_abnormal_homeostasis	0.98440524
79	MP0000026_abnormal_inner_ear	0.95787095
80	MP0000049_abnormal_middle_ear	0.95151074
81	MP0003698_abnormal_male_reproductive	0.95086802
82	MP0004133_heterotaxia	0.94433092
83	MP0001324_abnormal_eye_pigmentation	0.92506902
84	MP0005248_abnormal_Harderian_gland	0.92194936
85	MP0002882_abnormal_neuron_morphology	0.91622050
86	MP0008995_early_reproductive_senescence	0.91314848
87	MP0002733_abnormal_thermal_nociception	0.90774099
88	MP0002752_abnormal_somatic_nervous	0.89911494
89	MP0003137_abnormal_impulse_conducting	0.89653454
90	MP0000955_abnormal_spinal_cord	0.86851710
91	MP0002184_abnormal_innervation	0.86261323
92	MP0001929_abnormal_gametogenesis	0.85462412
93	MP0002876_abnormal_thyroid_physiology	0.83853514
94	MP0003633_abnormal_nervous_system	0.79934296
95	MP0002069_abnormal_eating/drinking_beha	0.78056072
96	MP0002066_abnormal_motor_capabilities/c	0.76616496
97	MP0004811_abnormal_neuron_physiology	0.76451805
98	MP0001440_abnormal_grooming_behavior	0.75964803
99	MP0002233_abnormal_nose_morphology	0.75554732
100	MP0003718_maternal_effect	0.74848091

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Medial flaring of the eyebrow (HP:0010747)	4.10103198
2	Gait imbalance (HP:0002141)	3.66545713
3	Acute necrotizing encephalopathy (HP:0006965)	3.64920831
4	Congenital primary aphakia (HP:0007707)	3.59731319
5	3-Methylglutaconic aciduria (HP:0003535)	3.56652069
6	Mitochondrial inheritance (HP:0001427)	3.46207767
7	Nephrogenic diabetes insipidus (HP:0009806)	3.39326574
8	Molar tooth sign on MRI (HP:0002419)	3.29411454
9	Abnormality of midbrain morphology (HP:0002418)	3.29411454
10	Abnormal mitochondria in muscle tissue (HP:0008316)	3.28617158
11	Progressive macrocephaly (HP:0004481)	3.28084022
12	Hepatocellular necrosis (HP:0001404)	3.24974401
13	Acute encephalopathy (HP:0006846)	3.24916654
14	Methylmalonic acidemia (HP:0002912)	3.22564461
15	Focal motor seizures (HP:0011153)	3.19204338
16	Hepatic necrosis (HP:0002605)	3.18400146
17	True hermaphroditism (HP:0010459)	3.12854234
18	Increased CSF lactate (HP:0002490)	3.08764861
19	Pancreatic cysts (HP:0001737)	3.04580978
20	Nephronophthisis (HP:0000090)	2.97008326
21	Pancreatic fibrosis (HP:0100732)	2.83900679
22	Genital tract atresia (HP:0001827)	2.78336156
23	Increased hepatocellular lipid droplets (HP:0006565)	2.75343015
24	Vaginal atresia (HP:0000148)	2.72024377
25	Lipid accumulation in hepatocytes (HP:0006561)	2.65885739
26	Atonic seizures (HP:0010819)	2.63476296
27	Hyperglycinemia (HP:0002154)	2.56482398
28	Methylmalonic aciduria (HP:0012120)	2.53891644
29	Abnormality of the labia minora (HP:0012880)	2.52673691
30	Renal Fanconi syndrome (HP:0001994)	2.51540460
31	Polyphagia (HP:0002591)	2.43951936
32	Retinal dysplasia (HP:0007973)	2.41521104
33	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.29341442
34	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.29341442
35	Postaxial hand polydactyly (HP:0001162)	2.28633696
36	Abnormality of the renal medulla (HP:0100957)	2.27591502
37	Cerebral edema (HP:0002181)	2.24793921
38	Specific learning disability (HP:0001328)	2.23422269
39	Tubulointerstitial nephritis (HP:0001970)	2.22277664
40	Poor coordination (HP:0002370)	2.21674811
41	Hemiparesis (HP:0001269)	2.21246214
42	Febrile seizures (HP:0002373)	2.21084501
43	Abolished electroretinogram (ERG) (HP:0000550)	2.21034096
44	Myokymia (HP:0002411)	2.20926541
45	Focal seizures (HP:0007359)	2.20815023
46	Lactic acidosis (HP:0003128)	2.18603884
47	Renal cortical cysts (HP:0000803)	2.18469148
48	Short tibia (HP:0005736)	2.14784466
49	Decreased central vision (HP:0007663)	2.14016373
50	Congenital stationary night blindness (HP:0007642)	2.13597197
51	Increased serum lactate (HP:0002151)	2.12872834
52	Hypothermia (HP:0002045)	2.12662756
53	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.12332863
54	Abnormality of macular pigmentation (HP:0008002)	2.12282209
55	Type II lissencephaly (HP:0007260)	2.10789849
56	Increased intramyocellular lipid droplets (HP:0012240)	2.10144749
57	Postaxial foot polydactyly (HP:0001830)	2.07964604
58	Absent speech (HP:0001344)	2.04838391
59	Dialeptic seizures (HP:0011146)	2.02951729
60	Optic disc pallor (HP:0000543)	2.01346560
61	Chronic hepatic failure (HP:0100626)	2.00972078
62	Lissencephaly (HP:0001339)	1.98180517
63	Progressive microcephaly (HP:0000253)	1.96240501
64	Respiratory failure (HP:0002878)	1.93940416
65	Broad foot (HP:0001769)	1.92202771
66	Bile duct proliferation (HP:0001408)	1.91342004
67	Abnormal biliary tract physiology (HP:0012439)	1.91342004
68	Progressive cerebellar ataxia (HP:0002073)	1.90506748
69	Median cleft lip (HP:0000161)	1.89701410
70	Decreased testicular size (HP:0008734)	1.89378598
71	Hyperventilation (HP:0002883)	1.89356886
72	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.87033161
73	Aplasia/Hypoplasia of the lens (HP:0008063)	1.84649717
74	CNS demyelination (HP:0007305)	1.84428322
75	Lethargy (HP:0001254)	1.82763976
76	Abnormality of glycine metabolism (HP:0010895)	1.82186253
77	Abnormality of serine family amino acid metabolism (HP:0010894)	1.82186253
78	Abnormality of the renal cortex (HP:0011035)	1.82027137
79	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.81896728
80	Dicarboxylic aciduria (HP:0003215)	1.81896728
81	Progressive inability to walk (HP:0002505)	1.81384242
82	Abnormal respiratory epithelium morphology (HP:0012253)	1.81054088
83	Abnormal respiratory motile cilium morphology (HP:0005938)	1.81054088
84	Limb dystonia (HP:0002451)	1.78838471
85	Congenital hepatic fibrosis (HP:0002612)	1.78810056
86	Inability to walk (HP:0002540)	1.77903067
87	Broad-based gait (HP:0002136)	1.76942489
88	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.76643280
89	Emotional lability (HP:0000712)	1.76131616
90	Type I transferrin isoform profile (HP:0003642)	1.75534849
91	Absence seizures (HP:0002121)	1.74336460
92	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.74202317
93	Optic nerve hypoplasia (HP:0000609)	1.74140632
94	Large for gestational age (HP:0001520)	1.73918387
95	Increased muscle lipid content (HP:0009058)	1.73325687
96	Cystic liver disease (HP:0006706)	1.73225457
97	Abnormality of vitamin B metabolism (HP:0004340)	1.72653412
98	Aganglionic megacolon (HP:0002251)	1.72463546
99	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.71518791
100	Exercise intolerance (HP:0003546)	1.71434594

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	3.59200076
2	MAP3K4	2.94994412
3	WNK3	2.73753903
4	FRK	2.54051978
5	MAP2K7	2.50111687
6	BCKDK	2.32495830
7	TRIM28	2.30968926
8	MAPK13	2.29873547
9	MARK1	2.09931059
10	BMPR1B	1.96985287
11	CASK	1.93626733
12	PLK2	1.89525362
13	BCR	1.87701649
14	NUAK1	1.86772108
15	CSNK1G2	1.86247806
16	CSNK1G3	1.81381748
17	PINK1	1.67184670
18	CSNK1G1	1.61161951
19	CCNB1	1.58148315
20	ERBB3	1.58028642
21	CSNK1A1L	1.49732118
22	ADRBK2	1.43575804
23	MST4	1.43352917
24	GRK1	1.38552328
25	SRPK1	1.34771169
26	TNIK	1.33859925
27	CDK19	1.33249185
28	EPHA4	1.29092070
29	DYRK2	1.25272337
30	PIM2	1.23388139
31	TAOK3	1.18362638
32	INSRR	1.17555360
33	STK16	1.14944425
34	NTRK2	1.14357177
35	PAK3	1.12555388
36	PRKCG	1.10707551
37	UHMK1	1.09139424
38	FER	1.05422726
39	VRK1	1.01759717
40	PRKCE	1.01109169
41	EIF2AK3	0.95102144
42	PNCK	0.94865851
43	MINK1	0.90554172
44	ZAK	0.90053466
45	FES	0.89602495
46	CAMKK2	0.89462218
47	PLK3	0.87824489
48	VRK2	0.86402892
49	STK39	0.85875072
50	OXSR1	0.85356936
51	GRK5	0.80884455
52	CAMK2A	0.80111923
53	PRKD3	0.76871274
54	MKNK2	0.75861093
55	MKNK1	0.75653625
56	PAK6	0.75113193
57	LIMK1	0.73888035
58	PLK4	0.71352025
59	PDK2	0.68823127
60	EPHA3	0.68504869
61	BMPR2	0.63780319
62	MAP3K12	0.62048796
63	PHKG1	0.61752236
64	PHKG2	0.61752236
65	EIF2AK1	0.61387805
66	DAPK2	0.60293898
67	PKN1	0.60229532
68	MUSK	0.60215019
69	TXK	0.58186980
70	FLT3	0.57123480
71	CSNK1A1	0.55399697
72	CAMK2B	0.55244594
73	WNK4	0.54135630
74	MAP3K5	0.53326966
75	CAMK1	0.52807486
76	OBSCN	0.52768009
77	MAP2K4	0.51624892
78	STK38L	0.51260148
79	RPS6KA5	0.51096645
80	PRKACA	0.50785289
81	DYRK1A	0.48125171
82	GRK7	0.48097590
83	WEE1	0.45402224
84	NME1	0.45254876
85	PLK1	0.45241261
86	KIT	0.44582960
87	PRKG1	0.44496077
88	PRKCQ	0.42955595
89	CDK5	0.42934442
90	TSSK6	0.42354397
91	CAMK2D	0.41946879
92	CSNK1D	0.40956387
93	DAPK1	0.40853815
94	MAPKAPK5	0.39674019
95	RPS6KA4	0.39195656
96	TIE1	0.38291989
97	PRKACB	0.38092873
98	TLK1	0.37583574
99	TEC	0.36617297
100	DYRK3	0.36226221

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.72712061
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.49053869
3	Parkinsons disease_Homo sapiens_hsa05012	2.98143667
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.82589754
5	Nicotine addiction_Homo sapiens_hsa05033	2.74191811
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.72396453
7	Propanoate metabolism_Homo sapiens_hsa00640	2.22326293
8	Proteasome_Homo sapiens_hsa03050	2.09300643
9	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.05055948
10	Butanoate metabolism_Homo sapiens_hsa00650	1.94100951
11	Fatty acid elongation_Homo sapiens_hsa00062	1.91201920
12	Collecting duct acid secretion_Homo sapiens_hsa04966	1.89210691
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.85697342
14	Huntingtons disease_Homo sapiens_hsa05016	1.84913580
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.84650235
16	GABAergic synapse_Homo sapiens_hsa04727	1.83000165
17	Regulation of autophagy_Homo sapiens_hsa04140	1.77221493
18	Phototransduction_Homo sapiens_hsa04744	1.77217158
19	Alzheimers disease_Homo sapiens_hsa05010	1.74792278
20	Basal transcription factors_Homo sapiens_hsa03022	1.70628589
21	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.58299248
22	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.58134356
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.56693716
24	Peroxisome_Homo sapiens_hsa04146	1.54563740
25	Morphine addiction_Homo sapiens_hsa05032	1.54195148
26	Homologous recombination_Homo sapiens_hsa03440	1.52638609
27	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.51667561
28	RNA polymerase_Homo sapiens_hsa03020	1.48468045
29	Cardiac muscle contraction_Homo sapiens_hsa04260	1.47984710
30	Fanconi anemia pathway_Homo sapiens_hsa03460	1.42074166
31	Steroid biosynthesis_Homo sapiens_hsa00100	1.38719837
32	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.37689695
33	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.36058024
34	RNA degradation_Homo sapiens_hsa03018	1.29931891
35	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.29062613
36	Nitrogen metabolism_Homo sapiens_hsa00910	1.21583825
37	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.16317877
38	Taste transduction_Homo sapiens_hsa04742	1.13816217
39	Circadian entrainment_Homo sapiens_hsa04713	1.10952315
40	Non-homologous end-joining_Homo sapiens_hsa03450	1.05172947
41	Olfactory transduction_Homo sapiens_hsa04740	1.00342778
42	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.99990428
43	Glutamatergic synapse_Homo sapiens_hsa04724	0.98755120
44	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.96980151
45	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.95089442
46	Base excision repair_Homo sapiens_hsa03410	0.94083506
47	Fatty acid metabolism_Homo sapiens_hsa01212	0.90762348
48	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.88411856
49	Dopaminergic synapse_Homo sapiens_hsa04728	0.86766708
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.86356408
51	Circadian rhythm_Homo sapiens_hsa04710	0.85323015
52	Linoleic acid metabolism_Homo sapiens_hsa00591	0.84607842
53	Amphetamine addiction_Homo sapiens_hsa05031	0.83338177
54	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.81615685
55	Tryptophan metabolism_Homo sapiens_hsa00380	0.80695055
56	Cocaine addiction_Homo sapiens_hsa05030	0.79752970
57	Ether lipid metabolism_Homo sapiens_hsa00565	0.79531615
58	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.79152346
59	Purine metabolism_Homo sapiens_hsa00230	0.76800287
60	Spliceosome_Homo sapiens_hsa03040	0.74954633
61	Folate biosynthesis_Homo sapiens_hsa00790	0.74245190
62	Metabolic pathways_Homo sapiens_hsa01100	0.74133806
63	Selenocompound metabolism_Homo sapiens_hsa00450	0.72775364
64	Nucleotide excision repair_Homo sapiens_hsa03420	0.72150783
65	beta-Alanine metabolism_Homo sapiens_hsa00410	0.71139200
66	Fatty acid degradation_Homo sapiens_hsa00071	0.70708603
67	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.70631943
68	Insulin secretion_Homo sapiens_hsa04911	0.69697146
69	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.68978273
70	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.67320620
71	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.66195901
72	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.64849680
73	Chemical carcinogenesis_Homo sapiens_hsa05204	0.62405833
74	Glutathione metabolism_Homo sapiens_hsa00480	0.57354631
75	Serotonergic synapse_Homo sapiens_hsa04726	0.56570442
76	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.56500247
77	RNA transport_Homo sapiens_hsa03013	0.55991218
78	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.55066178
79	Sulfur metabolism_Homo sapiens_hsa00920	0.53009748
80	Oocyte meiosis_Homo sapiens_hsa04114	0.52707323
81	Pyruvate metabolism_Homo sapiens_hsa00620	0.50370096
82	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.48795240
83	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.48428581
84	Rheumatoid arthritis_Homo sapiens_hsa05323	0.47624286
85	Pyrimidine metabolism_Homo sapiens_hsa00240	0.45685922
86	Retinol metabolism_Homo sapiens_hsa00830	0.44675772
87	Mismatch repair_Homo sapiens_hsa03430	0.43966467
88	Calcium signaling pathway_Homo sapiens_hsa04020	0.43077071
89	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.42028488
90	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.41860672
91	Vibrio cholerae infection_Homo sapiens_hsa05110	0.39446332
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.39163560
93	Ribosome_Homo sapiens_hsa03010	0.39016209
94	Salivary secretion_Homo sapiens_hsa04970	0.38479150
95	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.36561420
96	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.36306219
97	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.35557244
98	Carbon metabolism_Homo sapiens_hsa01200	0.30911297
99	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.28883010
100	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.27477473

AMZ2P1

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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