ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of mitochondrial fission (GO:0090141)	5.92413222
2	DNA double-strand break processing (GO:0000729)	5.06520279
3	base-excision repair, AP site formation (GO:0006285)	4.58552464
4	water-soluble vitamin biosynthetic process (GO:0042364)	4.57926134
5	glycosphingolipid biosynthetic process (GO:0006688)	4.49569070
6	cullin deneddylation (GO:0010388)	4.35400730
7	DNA damage response, detection of DNA damage (GO:0042769)	4.17707080
8	protein deneddylation (GO:0000338)	4.03662696
9	proteasome assembly (GO:0043248)	3.91662929
10	regulation of mitochondrial fission (GO:0090140)	3.78821983
11	peroxisome fission (GO:0016559)	3.70235105
12	ubiquinone metabolic process (GO:0006743)	3.66197380
13	cellular response to leptin stimulus (GO:0044320)	3.57541553
14	pyrimidine nucleobase catabolic process (GO:0006208)	3.47535748
15	de novo protein folding (GO:0006458)	3.43243431
16	de novo posttranslational protein folding (GO:0051084)	3.42087398
17	ubiquinone biosynthetic process (GO:0006744)	3.40424000
18	peptidyl-cysteine modification (GO:0018198)	3.37208123
19	S-adenosylmethionine metabolic process (GO:0046500)	3.36127708
20	succinate metabolic process (GO:0006105)	3.34437387
21	gamma-aminobutyric acid transport (GO:0015812)	3.32620939
22	positive regulation of actin filament depolymerization (GO:0030836)	3.30207848
23	artery smooth muscle contraction (GO:0014824)	3.27896282
24	negative regulation of oligodendrocyte differentiation (GO:0048715)	3.24223941
25	type B pancreatic cell proliferation (GO:0044342)	3.19310774
26	polyketide metabolic process (GO:0030638)	3.16751923
27	doxorubicin metabolic process (GO:0044598)	3.16751923
28	daunorubicin metabolic process (GO:0044597)	3.16751923
29	respiratory chain complex IV assembly (GO:0008535)	3.15445023
30	righting reflex (GO:0060013)	3.11245600
31	endoplasmic reticulum organization (GO:0007029)	3.10527606
32	intraciliary transport (GO:0042073)	3.10424599
33	negative regulation of JAK-STAT cascade (GO:0046426)	3.10016968
34	platelet dense granule organization (GO:0060155)	3.04361772
35	preassembly of GPI anchor in ER membrane (GO:0016254)	3.03435784
36	protein K6-linked ubiquitination (GO:0085020)	3.02654971
37	nonmotile primary cilium assembly (GO:0035058)	3.02013877
38	mitochondrial fusion (GO:0008053)	3.00480497
39	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.00104222
40	nucleobase catabolic process (GO:0046113)	2.98508640
41	glycolipid biosynthetic process (GO:0009247)	2.98095635
42	tRNA aminoacylation for protein translation (GO:0006418)	2.96575195
43	nuclear envelope reassembly (GO:0031468)	2.96512263
44	mitotic nuclear envelope reassembly (GO:0007084)	2.96512263
45	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.96154257
46	Golgi transport vesicle coating (GO:0048200)	2.95860403
47	COPI coating of Golgi vesicle (GO:0048205)	2.95860403
48	spinal cord association neuron differentiation (GO:0021527)	2.93441343
49	DNA integration (GO:0015074)	2.93149854
50	postreplication repair (GO:0006301)	2.91441272
51	regulation of mitochondrial translation (GO:0070129)	2.90403533
52	tonic smooth muscle contraction (GO:0014820)	2.85392443
53	vascular smooth muscle contraction (GO:0014829)	2.85339710
54	L-methionine salvage (GO:0071267)	2.83981258
55	L-methionine biosynthetic process (GO:0071265)	2.83981258
56	amino acid salvage (GO:0043102)	2.83981258
57	tRNA aminoacylation (GO:0043039)	2.82586955
58	amino acid activation (GO:0043038)	2.82586955
59	response to leptin (GO:0044321)	2.79216895
60	microtubule severing (GO:0051013)	2.78452662
61	sialylation (GO:0097503)	2.78213397
62	lipopolysaccharide biosynthetic process (GO:0009103)	2.78165176
63	aminoglycoside antibiotic metabolic process (GO:0030647)	2.77374921
64	olfactory bulb development (GO:0021772)	2.76569174
65	establishment of integrated proviral latency (GO:0075713)	2.75037564
66	regulation of development, heterochronic (GO:0040034)	2.74823728
67	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.72789076
68	metallo-sulfur cluster assembly (GO:0031163)	2.72583326
69	iron-sulfur cluster assembly (GO:0016226)	2.72583326
70	quinone metabolic process (GO:1901661)	2.72312578
71	establishment of viral latency (GO:0019043)	2.70638308
72	dicarboxylic acid catabolic process (GO:0043649)	2.64571371
73	mitochondrial fission (GO:0000266)	2.64116114
74	L-fucose catabolic process (GO:0042355)	2.63622477
75	fucose catabolic process (GO:0019317)	2.63622477
76	L-fucose metabolic process (GO:0042354)	2.63622477
77	negative regulation of Notch signaling pathway (GO:0045746)	2.62693913
78	branched-chain amino acid catabolic process (GO:0009083)	2.62318339
79	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.60790550
80	negative regulation of neurological system process (GO:0031645)	2.60655504
81	ganglioside metabolic process (GO:0001573)	2.60166303
82	response to gravity (GO:0009629)	2.59354976
83	cytochrome complex assembly (GO:0017004)	2.56932388
84	fatty acid elongation (GO:0030497)	2.56114841
85	reflex (GO:0060004)	2.54997172
86	quinone biosynthetic process (GO:1901663)	2.54683509
87	acrosome reaction (GO:0007340)	2.50191628
88	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.50007704
89	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.50007704
90	positive regulation of TOR signaling (GO:0032008)	2.46815848
91	aldehyde catabolic process (GO:0046185)	2.45235475
92	protein import into peroxisome matrix (GO:0016558)	2.44822716
93	regulation of coenzyme metabolic process (GO:0051196)	2.44307798
94	regulation of cofactor metabolic process (GO:0051193)	2.44307798
95	peroxisome organization (GO:0007031)	2.43612332
96	sulfur amino acid catabolic process (GO:0000098)	2.42966030
97	sequestering of actin monomers (GO:0042989)	2.42567219
98	inositol phosphate-mediated signaling (GO:0048016)	2.42226953
99	inner mitochondrial membrane organization (GO:0007007)	2.42101846
100	histone H2A ubiquitination (GO:0033522)	2.41929108

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	5.11052225
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.90509802
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.85633934
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.35928819
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.24338864
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.15289309
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.98164435
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.83004036
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.73859245
10	ELK1_19687146_ChIP-ChIP_HELA_Human	2.67037348
11	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.56022560
12	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.50655928
13	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.48395704
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.42689647
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.41404086
16	IGF1R_20145208_ChIP-Seq_DFB_Human	2.40712472
17	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.28124306
18	VDR_23849224_ChIP-Seq_CD4+_Human	2.19891111
19	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.04550249
20	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	2.02838077
21	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.96107495
22	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.95511743
23	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.93528745
24	TAF15_26573619_Chip-Seq_HEK293_Human	1.91908547
25	DCP1A_22483619_ChIP-Seq_HELA_Human	1.86188268
26	MYC_18940864_ChIP-ChIP_HL60_Human	1.82314390
27	GABP_19822575_ChIP-Seq_HepG2_Human	1.81718690
28	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.78651317
29	GBX2_23144817_ChIP-Seq_PC3_Human	1.78639867
30	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.68024134
31	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.67703619
32	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.65609097
33	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.58492235
34	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.58225135
35	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.56856454
36	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.56511268
37	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.50370039
38	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.47653643
39	FOXP3_21729870_ChIP-Seq_TREG_Human	1.44389161
40	EWS_26573619_Chip-Seq_HEK293_Human	1.44214006
41	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.43263492
42	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.42017731
43	CBP_20019798_ChIP-Seq_JUKART_Human	1.38493077
44	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.38493077
45	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.37789023
46	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36024321
47	FUS_26573619_Chip-Seq_HEK293_Human	1.34193025
48	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33570556
49	VDR_22108803_ChIP-Seq_LS180_Human	1.33326228
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.33136014
51	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.29645376
52	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.28891164
53	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.28008252
54	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.27601685
55	P300_19829295_ChIP-Seq_ESCs_Human	1.26980239
56	IRF1_19129219_ChIP-ChIP_H3396_Human	1.26236519
57	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.24228185
58	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.23571488
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.21844715
60	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.19609695
61	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.18875541
62	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.18384683
63	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.17233929
64	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.14474948
65	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.14272423
66	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.13177350
67	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.12577212
68	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.11902758
69	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.10533874
70	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.10525612
71	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.09404961
72	TP53_22573176_ChIP-Seq_HFKS_Human	1.08548950
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.05457930
74	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04987708
75	JUN_21703547_ChIP-Seq_K562_Human	1.03646553
76	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.03280155
77	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.03224895
78	P300_18555785_Chip-Seq_ESCs_Mouse	1.02782566
79	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.01437786
80	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.98425292
81	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.97826988
82	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.97375277
83	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.96936057
84	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.95444481
85	TTF2_22483619_ChIP-Seq_HELA_Human	0.93982200
86	RNF2_27304074_Chip-Seq_NSC_Mouse	0.93935438
87	ZFX_18555785_Chip-Seq_ESCs_Mouse	0.93612543
88	RUNX1_27457419_Chip-Seq_LIVER_Mouse	0.93338621
89	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	0.92266569
90	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.91865843
91	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.90868542
92	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.90834896
93	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.89785350
94	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.89367589
95	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.88840942
96	SMAD4_21799915_ChIP-Seq_A2780_Human	0.86076981
97	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.85875138
98	PU1_27457419_Chip-Seq_LIVER_Mouse	0.85700426
99	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.85539035
100	SMAD_19615063_ChIP-ChIP_OVARY_Human	0.85274183

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	4.53586962
2	MP0005645_abnormal_hypothalamus_physiol	4.49573667
3	MP0005084_abnormal_gallbladder_morpholo	3.47117538
4	MP0001529_abnormal_vocalization	3.06398417
5	MP0002653_abnormal_ependyma_morphology	2.84908966
6	MP0008789_abnormal_olfactory_epithelium	2.77183365
7	MP0000013_abnormal_adipose_tissue	2.65797156
8	MP0005394_taste/olfaction_phenotype	2.54814956
9	MP0005499_abnormal_olfactory_system	2.54814956
10	MP0008877_abnormal_DNA_methylation	2.54522069
11	MP0003221_abnormal_cardiomyocyte_apopto	2.52813856
12	MP0006072_abnormal_retinal_apoptosis	2.42476219
13	MP0006035_abnormal_mitochondrial_morpho	2.39324890
14	MP0005646_abnormal_pituitary_gland	2.14029073
15	MP0008995_early_reproductive_senescence	2.10023378
16	MP0009046_muscle_twitch	2.03021495
17	MP0003786_premature_aging	2.02313253
18	MP0001984_abnormal_olfaction	1.99504693
19	MP0003787_abnormal_imprinting	1.90157588
20	MP0005253_abnormal_eye_physiology	1.77280177
21	MP0001270_distended_abdomen	1.73190362
22	MP0001968_abnormal_touch/_nociception	1.70872397
23	MP0003121_genomic_imprinting	1.65903060
24	MP0004142_abnormal_muscle_tone	1.63823899
25	MP0002837_dystrophic_cardiac_calcinosis	1.63793404
26	MP0002928_abnormal_bile_duct	1.59690388
27	MP0008058_abnormal_DNA_repair	1.58637011
28	MP0002138_abnormal_hepatobiliary_system	1.56787756
29	MP0005187_abnormal_penis_morphology	1.51353723
30	MP0001905_abnormal_dopamine_level	1.50725823
31	MP0004270_analgesia	1.46818276
32	MP0002332_abnormal_exercise_endurance	1.41883611
33	MP0005623_abnormal_meninges_morphology	1.39261695
34	MP0002736_abnormal_nociception_after	1.38662649
35	MP0006054_spinal_hemorrhage	1.38417468
36	MP0002638_abnormal_pupillary_reflex	1.38257255
37	MP0004133_heterotaxia	1.36261004
38	MP0003122_maternal_imprinting	1.34059136
39	MP0000647_abnormal_sebaceous_gland	1.24888400
40	MP0010386_abnormal_urinary_bladder	1.22602141
41	MP0002751_abnormal_autonomic_nervous	1.18748185
42	MP0005551_abnormal_eye_electrophysiolog	1.17482971
43	MP0008260_abnormal_autophagy	1.15708087
44	MP0002090_abnormal_vision	1.15603151
45	MP0004147_increased_porphyrin_level	1.12890360
46	MP0000465_gastrointestinal_hemorrhage	1.12848782
47	MP0010094_abnormal_chromosome_stability	1.12681411
48	MP0005365_abnormal_bile_salt	1.10251395
49	MP0002572_abnormal_emotion/affect_behav	1.10227391
50	MP0006276_abnormal_autonomic_nervous	1.10126775
51	MP0006036_abnormal_mitochondrial_physio	1.08430489
52	MP0001764_abnormal_homeostasis	1.07061559
53	MP0001727_abnormal_embryo_implantation	1.06106143
54	MP0000778_abnormal_nervous_system	1.04584520
55	MP0002734_abnormal_mechanical_nocicepti	1.03855612
56	MP0002557_abnormal_social/conspecific_i	1.02492398
57	MP0001542_abnormal_bone_strength	1.02442896
58	MP0000358_abnormal_cell_content/	1.00897712
59	MP0002069_abnormal_eating/drinking_beha	0.94854168
60	MP0001486_abnormal_startle_reflex	0.93172089
61	MP0005220_abnormal_exocrine_pancreas	0.92775710
62	MP0003303_peritoneal_inflammation	0.91834928
63	MP0004811_abnormal_neuron_physiology	0.91813399
64	MP0009745_abnormal_behavioral_response	0.90743236
65	MP0002693_abnormal_pancreas_physiology	0.89773573
66	MP0002272_abnormal_nervous_system	0.89584368
67	MP0002254_reproductive_system_inflammat	0.89214184
68	MP0000049_abnormal_middle_ear	0.88580027
69	MP0005248_abnormal_Harderian_gland	0.87459838
70	MP0003186_abnormal_redox_activity	0.82913533
71	MP0009764_decreased_sensitivity_to	0.82695571
72	MP0008007_abnormal_cellular_replicative	0.82566526
73	MP0005367_renal/urinary_system_phenotyp	0.81505110
74	MP0000516_abnormal_urinary_system	0.81505110
75	MP0002909_abnormal_adrenal_gland	0.81262703
76	MP0005391_vision/eye_phenotype	0.80684782
77	MP0001243_abnormal_dermal_layer	0.79798475
78	MP0001299_abnormal_eye_distance/	0.78612961
79	MP0010368_abnormal_lymphatic_system	0.78233095
80	MP0002733_abnormal_thermal_nociception	0.77324544
81	MP0001502_abnormal_circadian_rhythm	0.76577842
82	MP0005389_reproductive_system_phenotype	0.75557418
83	MP0005647_abnormal_sex_gland	0.73909668
84	MP0001661_extended_life_span	0.73288130
85	MP0004924_abnormal_behavior	0.73143408
86	MP0005386_behavior/neurological_phenoty	0.73143408
87	MP0000613_abnormal_salivary_gland	0.73118478
88	MP0004085_abnormal_heartbeat	0.70514537
89	MP0001986_abnormal_taste_sensitivity	0.70151297
90	MP0002229_neurodegeneration	0.67474010
91	MP0005332_abnormal_amino_acid	0.66913282
92	MP0004215_abnormal_myocardial_fiber	0.66413321
93	MP0004134_abnormal_chest_morphology	0.66139923
94	MP0000751_myopathy	0.65076117
95	MP0000427_abnormal_hair_cycle	0.63782733
96	MP0002067_abnormal_sensory_capabilities	0.62612420
97	MP0008775_abnormal_heart_ventricle	0.62373573
98	MP0005595_abnormal_vascular_smooth	0.62353789
99	MP0009384_cardiac_valve_regurgitation	0.61130675
100	MP0010352_gastrointestinal_tract_polyps	0.58823520

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Amyotrophic lateral sclerosis (HP:0007354)	3.70292505
2	Methylmalonic acidemia (HP:0002912)	3.66512942
3	Shoulder girdle muscle weakness (HP:0003547)	3.34548128
4	Methylmalonic aciduria (HP:0012120)	3.25941228
5	Atrophy/Degeneration involving motor neurons (HP:0007373)	3.21592808
6	Polyphagia (HP:0002591)	3.15473894
7	Retinal dysplasia (HP:0007973)	3.09447089
8	True hermaphroditism (HP:0010459)	3.02603775
9	Ketoacidosis (HP:0001993)	3.01143295
10	Acute necrotizing encephalopathy (HP:0006965)	2.99646360
11	Medial flaring of the eyebrow (HP:0010747)	2.96022333
12	Hyperinsulinemic hypoglycemia (HP:0000825)	2.91962670
13	Neonatal respiratory distress (HP:0002643)	2.88522488
14	Abnormal mitochondria in muscle tissue (HP:0008316)	2.87863012
15	Delayed gross motor development (HP:0002194)	2.78437144
16	Progressive macrocephaly (HP:0004481)	2.76891915
17	Rimmed vacuoles (HP:0003805)	2.73518569
18	Congenital primary aphakia (HP:0007707)	2.69739865
19	Gait imbalance (HP:0002141)	2.64795968
20	Microretrognathia (HP:0000308)	2.64489309
21	Hypoglycemic seizures (HP:0002173)	2.60638750
22	Acute encephalopathy (HP:0006846)	2.53486304
23	Nephrogenic diabetes insipidus (HP:0009806)	2.48290185
24	Chronic hepatic failure (HP:0100626)	2.47291061
25	Hepatocellular necrosis (HP:0001404)	2.44938260
26	Mesangial abnormality (HP:0001966)	2.41375636
27	Abnormality of methionine metabolism (HP:0010901)	2.40665363
28	Papilledema (HP:0001085)	2.38328133
29	Lissencephaly (HP:0001339)	2.36379495
30	Tongue fasciculations (HP:0001308)	2.35120016
31	Abnormality of the musculature of the pelvis (HP:0001469)	2.33166283
32	Abnormality of the hip-girdle musculature (HP:0001445)	2.33166283
33	Pancreatic islet-cell hyperplasia (HP:0004510)	2.31796994
34	Hypoglycemic coma (HP:0001325)	2.26443109
35	Mitochondrial inheritance (HP:0001427)	2.25625704
36	Abnormality of the pancreatic islet cells (HP:0006476)	2.25146474
37	Abnormality of endocrine pancreas physiology (HP:0012093)	2.25146474
38	Increased CSF lactate (HP:0002490)	2.23460674
39	Cortical dysplasia (HP:0002539)	2.22760404
40	Degeneration of anterior horn cells (HP:0002398)	2.21155257
41	Abnormality of the anterior horn cell (HP:0006802)	2.21155257
42	Abnormality of vitamin B metabolism (HP:0004340)	2.19872757
43	Hepatic necrosis (HP:0002605)	2.16011898
44	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.15967429
45	Hypoplasia of the fovea (HP:0007750)	2.15967429
46	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.14938556
47	Pendular nystagmus (HP:0012043)	2.14537949
48	Aplasia/hypoplasia of the uterus (HP:0008684)	2.06343870
49	Hyperventilation (HP:0002883)	2.05987953
50	Abnormality of alanine metabolism (HP:0010916)	2.03099588
51	Hyperalaninemia (HP:0003348)	2.03099588
52	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.03099588
53	Progressive inability to walk (HP:0002505)	2.02253496
54	Delayed CNS myelination (HP:0002188)	2.01806183
55	Hypoplasia of the brainstem (HP:0002365)	2.01577286
56	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.01577286
57	Abnormality of the fovea (HP:0000493)	2.01326065
58	Gonadal dysgenesis (HP:0000133)	2.01289180
59	Increased serum lactate (HP:0002151)	2.01087039
60	Abnormality of the metopic suture (HP:0005556)	2.00896742
61	Cerebral edema (HP:0002181)	2.00038819
62	Hypsarrhythmia (HP:0002521)	1.99034815
63	Optic nerve coloboma (HP:0000588)	1.98234613
64	3-Methylglutaconic aciduria (HP:0003535)	1.98193977
65	Hemivertebrae (HP:0002937)	1.98135305
66	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.96239105
67	Abnormality of midbrain morphology (HP:0002418)	1.95977198
68	Molar tooth sign on MRI (HP:0002419)	1.95977198
69	Cerebral hypomyelination (HP:0006808)	1.95548946
70	Hypothermia (HP:0002045)	1.94521296
71	Thyroid-stimulating hormone excess (HP:0002925)	1.94037164
72	Pelvic girdle muscle weakness (HP:0003749)	1.93141313
73	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.92800252
74	Testicular neoplasm (HP:0010788)	1.90330478
75	EEG with generalized epileptiform discharges (HP:0011198)	1.89075645
76	Abnormality of the lower motor neuron (HP:0002366)	1.88670938
77	Abnormality of macular pigmentation (HP:0008002)	1.87296834
78	Upper limb muscle weakness (HP:0003484)	1.85299267
79	Congenital, generalized hypertrichosis (HP:0004540)	1.85131167
80	Prominent metopic ridge (HP:0005487)	1.84440353
81	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	1.84402426
82	Degeneration of the lateral corticospinal tracts (HP:0002314)	1.84402426
83	Neoplasm of the adrenal gland (HP:0100631)	1.84089659
84	Muscle fibrillation (HP:0010546)	1.82024709
85	Pancreatic cysts (HP:0001737)	1.80904009
86	Tubulointerstitial nephritis (HP:0001970)	1.80598204
87	Muscular hypotonia of the trunk (HP:0008936)	1.80106835
88	Abnormal sex determination (HP:0012244)	1.78560450
89	Sex reversal (HP:0012245)	1.78560450
90	Progressive microcephaly (HP:0000253)	1.77776761
91	Symptomatic seizures (HP:0011145)	1.77565104
92	Brushfield spots (HP:0001088)	1.76664391
93	Glioma (HP:0009733)	1.75735803
94	Stomach cancer (HP:0012126)	1.75010092
95	Abnormality of the labia minora (HP:0012880)	1.74751101
96	Chorioretinal atrophy (HP:0000533)	1.74615869
97	Epileptiform EEG discharges (HP:0011182)	1.73625139
98	Emotional lability (HP:0000712)	1.72586755
99	Lethargy (HP:0001254)	1.72180650
100	Limb-girdle muscle weakness (HP:0003325)	1.72029032

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BCR	3.60745937
2	TSSK6	3.37009581
3	CSNK1G3	3.25530036
4	TRIM28	3.14759116
5	CSNK1G2	2.82907996
6	CSNK1G1	2.79821888
7	SRPK1	2.72976218
8	INSRR	2.68626477
9	CSNK1A1L	2.61300716
10	MAP4K2	2.52258352
11	EIF2AK3	2.38808135
12	GRK7	2.36667499
13	FRK	2.26616602
14	ERBB3	2.22372660
15	WNK3	2.15642291
16	SIK3	1.99040866
17	GRK1	1.92908445
18	LIMK1	1.91248576
19	STK24	1.89683095
20	TESK1	1.81926851
21	BCKDK	1.78156251
22	MAP2K7	1.76224338
23	BUB1	1.60983886
24	ZAK	1.54810762
25	TESK2	1.54573717
26	CDK19	1.54334528
27	BRSK2	1.50951503
28	PIM2	1.43157992
29	PINK1	1.36533514
30	MAP3K4	1.29941101
31	PLK3	1.27595341
32	EPHB1	1.12952572
33	ADRBK2	1.11248767
34	NEK1	1.10206674
35	PLK2	1.04112187
36	RPS6KA4	1.03048989
37	EIF2AK1	1.02775966
38	PHKG2	0.99315037
39	PHKG1	0.99315037
40	MARK1	0.97442322
41	STK38L	0.95325751
42	ERBB4	0.94545755
43	OXSR1	0.93389260
44	MAPK13	0.93369444
45	MKNK1	0.92692580
46	NUAK1	0.92495324
47	MINK1	0.87430663
48	PTK2B	0.86585358
49	BRSK1	0.86291326
50	PRKCE	0.82730979
51	DYRK2	0.82289464
52	MKNK2	0.78026771
53	PAK4	0.76206410
54	CCNB1	0.75728469
55	FER	0.73965389
56	PAK3	0.73815550
57	TIE1	0.69776090
58	PLK4	0.69401601
59	NEK9	0.68841625
60	STK16	0.68286067
61	RPS6KA5	0.66080819
62	VRK2	0.63388585
63	ADRBK1	0.62899945
64	KDR	0.62320366
65	PLK1	0.61544998
66	CDK14	0.60788335
67	DYRK3	0.59604344
68	DAPK1	0.59159769
69	CASK	0.55665554
70	PRKCG	0.54401034
71	DAPK2	0.54246780
72	SIK2	0.53999055
73	VRK1	0.50386639
74	DYRK1A	0.49940216
75	DYRK1B	0.48903179
76	PDK2	0.47196375
77	PRKD3	0.45802914
78	FGR	0.44762790
79	CDK18	0.43823419
80	MAP3K5	0.41445368
81	MST4	0.41392896
82	CSNK1A1	0.41341701
83	MATK	0.41034988
84	TBK1	0.40168001
85	BMPR1B	0.38341347
86	CSNK1D	0.36641852
87	TEC	0.35253017
88	EPHA2	0.34834206
89	CAMKK2	0.31701578
90	CDK15	0.31579190
91	ATM	0.30185039
92	CDK11A	0.29859349
93	GRK5	0.28984423
94	STK10	0.27379858
95	CAMK2D	0.27058403
96	CHEK2	0.27035017
97	IKBKE	0.26439703
98	CDK3	0.25412111
99	PAK6	0.24406021
100	IGF1R	0.23470141

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	4.16715544
2	Protein export_Homo sapiens_hsa03060	3.03568713
3	Fatty acid elongation_Homo sapiens_hsa00062	2.78263175
4	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.76172693
5	Proteasome_Homo sapiens_hsa03050	2.68022337
6	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.51882510
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.41533934
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.33126566
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.20527543
10	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	2.18733376
11	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	2.15451625
12	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.14746486
13	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.01066291
14	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.96162346
15	Butanoate metabolism_Homo sapiens_hsa00650	1.81973194
16	Base excision repair_Homo sapiens_hsa03410	1.81866104
17	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.76211282
18	RNA polymerase_Homo sapiens_hsa03020	1.68451902
19	Non-homologous end-joining_Homo sapiens_hsa03450	1.64543012
20	Parkinsons disease_Homo sapiens_hsa05012	1.57475224
21	Steroid biosynthesis_Homo sapiens_hsa00100	1.55871692
22	Regulation of autophagy_Homo sapiens_hsa04140	1.43323965
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.42232378
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.41351388
25	Phototransduction_Homo sapiens_hsa04744	1.41190138
26	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.40144053
27	Folate biosynthesis_Homo sapiens_hsa00790	1.37341056
28	Propanoate metabolism_Homo sapiens_hsa00640	1.37031354
29	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.27269486
30	Peroxisome_Homo sapiens_hsa04146	1.25447366
31	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.24821300
32	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.23512450
33	Basal transcription factors_Homo sapiens_hsa03022	1.22621016
34	Type I diabetes mellitus_Homo sapiens_hsa04940	1.21800978
35	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.20292770
36	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.20247490
37	Fanconi anemia pathway_Homo sapiens_hsa03460	1.19374228
38	Vibrio cholerae infection_Homo sapiens_hsa05110	1.15763786
39	Fatty acid metabolism_Homo sapiens_hsa01212	1.14543986
40	Cocaine addiction_Homo sapiens_hsa05030	1.08550944
41	Nucleotide excision repair_Homo sapiens_hsa03420	1.07444690
42	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.07201086
43	Selenocompound metabolism_Homo sapiens_hsa00450	1.06388965
44	Tryptophan metabolism_Homo sapiens_hsa00380	1.01644695
45	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.99382725
46	Carbon metabolism_Homo sapiens_hsa01200	0.98638399
47	Mismatch repair_Homo sapiens_hsa03430	0.97633763
48	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.97616794
49	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.96925666
50	Glycerolipid metabolism_Homo sapiens_hsa00561	0.93993504
51	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.92112864
52	Legionellosis_Homo sapiens_hsa05134	0.91317157
53	Pyrimidine metabolism_Homo sapiens_hsa00240	0.90920827
54	RNA degradation_Homo sapiens_hsa03018	0.90705488
55	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.87377702
56	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.87313044
57	Spliceosome_Homo sapiens_hsa03040	0.86663266
58	GABAergic synapse_Homo sapiens_hsa04727	0.85196169
59	beta-Alanine metabolism_Homo sapiens_hsa00410	0.81944591
60	p53 signaling pathway_Homo sapiens_hsa04115	0.81476222
61	Circadian rhythm_Homo sapiens_hsa04710	0.77424083
62	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.75847836
63	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.74287043
64	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.74013936
65	Metabolic pathways_Homo sapiens_hsa01100	0.71349394
66	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.70692561
67	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.66963727
68	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.66184575
69	RNA transport_Homo sapiens_hsa03013	0.65067429
70	Sulfur metabolism_Homo sapiens_hsa00920	0.64243842
71	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.62818948
72	Fatty acid degradation_Homo sapiens_hsa00071	0.61851500
73	Purine metabolism_Homo sapiens_hsa00230	0.60444657
74	Glutathione metabolism_Homo sapiens_hsa00480	0.57863268
75	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.56827615
76	Phagosome_Homo sapiens_hsa04145	0.56620626
77	DNA replication_Homo sapiens_hsa03030	0.55834208
78	Pyruvate metabolism_Homo sapiens_hsa00620	0.55298567
79	Rheumatoid arthritis_Homo sapiens_hsa05323	0.53126332
80	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.53078396
81	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.52837021
82	Collecting duct acid secretion_Homo sapiens_hsa04966	0.50135195
83	Huntingtons disease_Homo sapiens_hsa05016	0.49843219
84	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49569074
85	Alzheimers disease_Homo sapiens_hsa05010	0.48470602
86	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.46607994
87	Sulfur relay system_Homo sapiens_hsa04122	0.44354485
88	Sphingolipid metabolism_Homo sapiens_hsa00600	0.41253273
89	Oocyte meiosis_Homo sapiens_hsa04114	0.41097713
90	Galactose metabolism_Homo sapiens_hsa00052	0.38811007
91	Asthma_Homo sapiens_hsa05310	0.38388223
92	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.38147203
93	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.35920637
94	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.35444037
95	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.33801478
96	Shigellosis_Homo sapiens_hsa05131	0.33211013
97	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.31695906
98	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.30488912
99	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.29482437
100	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.28175316

SNX19P2

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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