ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of glycolytic process (GO:0045821)	5.58043957
2	regulation of hexokinase activity (GO:1903299)	5.50213265
3	regulation of glucokinase activity (GO:0033131)	5.50213265
4	respiratory chain complex IV assembly (GO:0008535)	4.56973608
5	nitric oxide mediated signal transduction (GO:0007263)	4.24477400
6	endocrine pancreas development (GO:0031018)	4.20922465
7	lactate metabolic process (GO:0006089)	4.09728243
8	negative regulation of cytosolic calcium ion concentration (GO:0051481)	4.01595302
9	behavioral response to nicotine (GO:0035095)	3.99369618
10	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.96849246
11	cytochrome complex assembly (GO:0017004)	3.92042231
12	response to pheromone (GO:0019236)	3.71389495
13	cellular ketone body metabolic process (GO:0046950)	3.70403473
14	positive regulation of respiratory burst (GO:0060267)	3.69349132
15	negative regulation of protein oligomerization (GO:0032460)	3.62528046
16	L-fucose catabolic process (GO:0042355)	3.59427702
17	fucose catabolic process (GO:0019317)	3.59427702
18	L-fucose metabolic process (GO:0042354)	3.59427702
19	insulin secretion (GO:0030073)	3.50857595
20	negative regulation of acute inflammatory response (GO:0002674)	3.49645725
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.48871704
22	negative regulation of gluconeogenesis (GO:0045721)	3.47123781
23	signal peptide processing (GO:0006465)	3.46001309
24	platelet dense granule organization (GO:0060155)	3.35300303
25	positive regulation of peptide hormone secretion (GO:0090277)	3.26891749
26	ketone body metabolic process (GO:1902224)	3.26805842
27	positive regulation of insulin secretion (GO:0032024)	3.19187430
28	regulation of energy homeostasis (GO:2000505)	3.18202713
29	positive regulation of peptide secretion (GO:0002793)	3.12690154
30	inositol phosphate catabolic process (GO:0071545)	3.12268513
31	fatty acid homeostasis (GO:0055089)	3.12005502
32	detection of light stimulus involved in sensory perception (GO:0050962)	3.02921915
33	detection of light stimulus involved in visual perception (GO:0050908)	3.02921915
34	positive regulation of glycogen biosynthetic process (GO:0045725)	3.01632746
35	negative regulation of hormone biosynthetic process (GO:0032353)	3.01298055
36	protein K11-linked deubiquitination (GO:0035871)	3.01279791
37	calcium ion import (GO:0070509)	2.97817384
38	regulation of glycolytic process (GO:0006110)	2.97562562
39	indolalkylamine metabolic process (GO:0006586)	2.87961043
40	glycerophospholipid catabolic process (GO:0046475)	2.86605349
41	L-alpha-amino acid transmembrane transport (GO:1902475)	2.85994830
42	protein K6-linked ubiquitination (GO:0085020)	2.85427823
43	alanine transport (GO:0032328)	2.83350847
44	proline transport (GO:0015824)	2.82894586
45	keratinocyte development (GO:0003334)	2.81678454
46	auditory receptor cell stereocilium organization (GO:0060088)	2.80494162
47	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	2.77208605
48	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.76808178
49	protein complex biogenesis (GO:0070271)	2.76749914
50	polyol catabolic process (GO:0046174)	2.76481745
51	DNA deamination (GO:0045006)	2.70262889
52	positive regulation of protein autophosphorylation (GO:0031954)	2.70141551
53	axoneme assembly (GO:0035082)	2.69564226
54	regulation of insulin secretion (GO:0050796)	2.67847737
55	regulation of acrosome reaction (GO:0060046)	2.66914643
56	negative regulation of inflammatory response to antigenic stimulus (GO:0002862)	2.66674878
57	kidney morphogenesis (GO:0060993)	2.65327452
58	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.61113627
59	inositol phosphate dephosphorylation (GO:0046855)	2.60598942
60	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.60598942
61	adaptation of signaling pathway (GO:0023058)	2.60210589
62	acrosome reaction (GO:0007340)	2.59615042
63	positive regulation of hormone secretion (GO:0046887)	2.59322552
64	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.58067212
65	positive regulation of glycogen metabolic process (GO:0070875)	2.57674104
66	piRNA metabolic process (GO:0034587)	2.57516285
67	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.55309857
68	regulation of peptide hormone secretion (GO:0090276)	2.54481420
69	startle response (GO:0001964)	2.50845377
70	regulation of peptide secretion (GO:0002791)	2.48836695
71	regulation of action potential (GO:0098900)	2.47850119
72	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.47363533
73	protein polyglutamylation (GO:0018095)	2.47304805
74	positive regulation of meiosis (GO:0045836)	2.46838031
75	phasic smooth muscle contraction (GO:0014821)	2.46835143
76	exocrine pancreas development (GO:0031017)	2.45044769
77	negative regulation of hormone metabolic process (GO:0032351)	2.45015796
78	neuronal action potential (GO:0019228)	2.44895368
79	xenobiotic catabolic process (GO:0042178)	2.43424836
80	tryptophan catabolic process (GO:0006569)	2.40578783
81	indole-containing compound catabolic process (GO:0042436)	2.40578783
82	indolalkylamine catabolic process (GO:0046218)	2.40578783
83	mitochondrial respiratory chain complex assembly (GO:0033108)	2.39879508
84	positive regulation of prostaglandin secretion (GO:0032308)	2.38496663
85	type B pancreatic cell development (GO:0003323)	2.38112144
86	regulation of skeletal muscle contraction (GO:0014819)	2.37609125
87	regulation of feeding behavior (GO:0060259)	2.37185902
88	chemosensory behavior (GO:0007635)	2.36168976
89	negative regulation of telomere maintenance (GO:0032205)	2.35767042
90	kynurenine metabolic process (GO:0070189)	2.34089674
91	protein prenylation (GO:0018342)	2.33964936
92	prenylation (GO:0097354)	2.33964936
93	prostate gland growth (GO:0060736)	2.33656533
94	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.33154422
95	calcium ion-dependent exocytosis (GO:0017156)	2.33110842
96	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.33081673
97	NADH dehydrogenase complex assembly (GO:0010257)	2.33081673
98	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.33081673
99	regulation of carbohydrate catabolic process (GO:0043470)	2.32327415
100	regulation of cellular carbohydrate catabolic process (GO:0043471)	2.32327415

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.52551111
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.13609897
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.90406100
4	VDR_22108803_ChIP-Seq_LS180_Human	2.71522108
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.53740176
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.50653260
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.43821675
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.34946433
9	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.20211080
10	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.08631134
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.05308095
12	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.02991699
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.97665639
14	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.93353162
15	P300_19829295_ChIP-Seq_ESCs_Human	1.90782415
16	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.88690656
17	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.85935312
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.84630140
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.83063471
20	BCAT_22108803_ChIP-Seq_LS180_Human	1.81058175
21	FUS_26573619_Chip-Seq_HEK293_Human	1.67074189
22	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.62662248
23	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.62557239
24	SMAD4_21799915_ChIP-Seq_A2780_Human	1.60183942
25	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.58110646
26	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.57067156
27	EWS_26573619_Chip-Seq_HEK293_Human	1.56797376
28	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.56516209
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.56361801
30	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.55430248
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.55264581
32	AR_25329375_ChIP-Seq_VCAP_Human	1.55252189
33	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.52469181
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.52416117
35	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.50147570
36	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.49604270
37	TP53_22573176_ChIP-Seq_HFKS_Human	1.47406453
38	CBP_20019798_ChIP-Seq_JUKART_Human	1.46489291
39	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.46489291
40	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.45899281
41	SOX2_19829295_ChIP-Seq_ESCs_Human	1.43856843
42	NANOG_19829295_ChIP-Seq_ESCs_Human	1.43856843
43	TCF4_23295773_ChIP-Seq_U87_Human	1.43853648
44	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.43182618
45	STAT3_23295773_ChIP-Seq_U87_Human	1.40858995
46	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40022623
47	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.39640037
48	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.39467337
49	REST_21632747_ChIP-Seq_MESCs_Mouse	1.38898138
50	EZH2_22144423_ChIP-Seq_EOC_Human	1.37853852
51	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.36030363
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.34743418
53	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.33563373
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.33153291
55	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32785360
56	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.32471150
57	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31906936
58	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.31811097
59	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.31748534
60	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31552048
61	TCF4_22108803_ChIP-Seq_LS180_Human	1.30976466
62	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.30933190
63	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.30933190
64	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.30466111
65	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.29220993
66	P53_22387025_ChIP-Seq_ESCs_Mouse	1.29016335
67	CDX2_22108803_ChIP-Seq_LS180_Human	1.27841753
68	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.26080889
69	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.24036834
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.23448982
71	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.23448982
72	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21921907
73	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.19285650
74	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.18601077
75	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.17936213
76	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.16707201
77	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.16597981
78	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.16469319
79	RUNX2_22187159_ChIP-Seq_PCA_Human	1.15572469
80	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.15518420
81	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.14952699
82	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.14249910
83	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.13198687
84	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12134375
85	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.11994845
86	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.11690283
87	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.11565429
88	P300_18555785_Chip-Seq_ESCs_Mouse	1.10503778
89	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.10139350
90	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.05288973
91	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04605086
92	AR_20517297_ChIP-Seq_VCAP_Human	1.03560112
93	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.03320169
94	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.03081808
95	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.02557667
96	NCOR_22424771_ChIP-Seq_293T_Human	1.02020873
97	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.01629248
98	HTT_18923047_ChIP-ChIP_STHdh_Human	0.99374457
99	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.98733364
100	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.98307134

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	5.10875128
2	MP0003787_abnormal_imprinting	3.61015910
3	MP0002837_dystrophic_cardiac_calcinosis	3.30712289
4	MP0008877_abnormal_DNA_methylation	3.27898780
5	MP0003283_abnormal_digestive_organ	3.11281216
6	MP0004145_abnormal_muscle_electrophysio	2.74478310
7	MP0003646_muscle_fatigue	2.65308497
8	MP0002909_abnormal_adrenal_gland	2.32536538
9	MP0002102_abnormal_ear_morphology	2.31216713
10	MP0006072_abnormal_retinal_apoptosis	2.25881900
11	MP0002693_abnormal_pancreas_physiology	2.24884365
12	MP0005551_abnormal_eye_electrophysiolog	2.09728016
13	MP0002876_abnormal_thyroid_physiology	2.05718692
14	MP0009046_muscle_twitch	2.02275210
15	MP0000569_abnormal_digit_pigmentation	1.88998341
16	MP0003122_maternal_imprinting	1.87637478
17	MP0001944_abnormal_pancreas_morphology	1.79635997
18	MP0005379_endocrine/exocrine_gland_phen	1.78041206
19	MP0004043_abnormal_pH_regulation	1.76765543
20	MP0005253_abnormal_eye_physiology	1.73945510
21	MP0005645_abnormal_hypothalamus_physiol	1.69253026
22	MP0009745_abnormal_behavioral_response	1.66804191
23	MP0001986_abnormal_taste_sensitivity	1.65272101
24	MP0003011_delayed_dark_adaptation	1.64592645
25	MP0002638_abnormal_pupillary_reflex	1.58312869
26	MP0003172_abnormal_lysosome_physiology	1.50147712
27	MP0005075_abnormal_melanosome_morpholog	1.49972160
28	MP0009780_abnormal_chondrocyte_physiolo	1.49313307
29	MP0004885_abnormal_endolymph	1.48179245
30	MP0002822_catalepsy	1.47323669
31	MP0003121_genomic_imprinting	1.47271725
32	MP0008872_abnormal_physiological_respon	1.46531456
33	MP0005646_abnormal_pituitary_gland	1.45558389
34	MP0002272_abnormal_nervous_system	1.43783450
35	MP0002078_abnormal_glucose_homeostasis	1.42705165
36	MP0006036_abnormal_mitochondrial_physio	1.41431456
37	MP0002277_abnormal_respiratory_mucosa	1.40738233
38	MP0002163_abnormal_gland_morphology	1.40675246
39	MP0001968_abnormal_touch/_nociception	1.38351413
40	MP0002064_seizures	1.37612188
41	MP0001501_abnormal_sleep_pattern	1.34095962
42	MP0004142_abnormal_muscle_tone	1.31991335
43	MP0003880_abnormal_central_pattern	1.27873143
44	MP0002928_abnormal_bile_duct	1.26144647
45	MP0004036_abnormal_muscle_relaxation	1.24003494
46	MP0005084_abnormal_gallbladder_morpholo	1.22027124
47	MP0004147_increased_porphyrin_level	1.18811309
48	MP0004133_heterotaxia	1.18728163
49	MP0010386_abnormal_urinary_bladder	1.18400364
50	MP0004215_abnormal_myocardial_fiber	1.17716492
51	MP0004270_analgesia	1.16705405
52	MP0010329_abnormal_lipoprotein_level	1.15738450
53	MP0002938_white_spotting	1.15510969
54	MP0003045_fibrosis	1.11064981
55	MP0000749_muscle_degeneration	1.09814394
56	MP0005332_abnormal_amino_acid	1.09020551
57	MP0002557_abnormal_social/conspecific_i	1.07484974
58	MP0002736_abnormal_nociception_after	1.05924718
59	MP0005386_behavior/neurological_phenoty	1.03725230
60	MP0004924_abnormal_behavior	1.03725230
61	MP0006276_abnormal_autonomic_nervous	1.02807273
62	MP0005220_abnormal_exocrine_pancreas	1.02211680
63	MP0000631_abnormal_neuroendocrine_gland	1.01703566
64	MP0002254_reproductive_system_inflammat	1.01094139
65	MP0002229_neurodegeneration	0.98567012
66	MP0001486_abnormal_startle_reflex	0.96528742
67	MP0002572_abnormal_emotion/affect_behav	0.96400166
68	MP0008875_abnormal_xenobiotic_pharmacok	0.95625336
69	MP0003123_paternal_imprinting	0.93370099
70	MP0005636_abnormal_mineral_homeostasis	0.92684950
71	MP0003633_abnormal_nervous_system	0.92080714
72	MP0004742_abnormal_vestibular_system	0.91511543
73	MP0005448_abnormal_energy_balance	0.91390127
74	MP0005365_abnormal_bile_salt	0.91374856
75	MP0001970_abnormal_pain_threshold	0.90315492
76	MP0000230_abnormal_systemic_arterial	0.89380586
77	MP0005266_abnormal_metabolism	0.89025868
78	MP0001440_abnormal_grooming_behavior	0.88803443
79	MP0002106_abnormal_muscle_physiology	0.88271828
80	MP0005535_abnormal_body_temperature	0.86826002
81	MP0001984_abnormal_olfaction	0.84985988
82	MP0008775_abnormal_heart_ventricle	0.83849171
83	MP0003953_abnormal_hormone_level	0.82962715
84	MP0002332_abnormal_exercise_endurance	0.82482855
85	MP0005167_abnormal_blood-brain_barrier	0.82451423
86	MP0005389_reproductive_system_phenotype	0.82134109
87	MP0000427_abnormal_hair_cycle	0.80991677
88	MP0005174_abnormal_tail_pigmentation	0.79503123
89	MP0002067_abnormal_sensory_capabilities	0.79458957
90	MP0005369_muscle_phenotype	0.78565634
91	MP0004085_abnormal_heartbeat	0.76233851
92	MP0001919_abnormal_reproductive_system	0.76091228
93	MP0002138_abnormal_hepatobiliary_system	0.75649973
94	MP0002184_abnormal_innervation	0.75270128
95	MP0004510_myositis	0.75144193
96	MP0003635_abnormal_synaptic_transmissio	0.74061094
97	MP0002734_abnormal_mechanical_nocicepti	0.73977036
98	MP0001529_abnormal_vocalization	0.73235268
99	MP0002118_abnormal_lipid_homeostasis	0.72994434
100	MP0000516_abnormal_urinary_system	0.70932728

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoglycemic seizures (HP:0002173)	6.84702026
2	Hyperinsulinemic hypoglycemia (HP:0000825)	6.59722299
3	Hypoglycemic coma (HP:0001325)	6.13187894
4	Ketoacidosis (HP:0001993)	5.24174575
5	Abnormality of the pancreatic islet cells (HP:0006476)	4.76344844
6	Abnormality of endocrine pancreas physiology (HP:0012093)	4.76344844
7	Large for gestational age (HP:0001520)	4.45274330
8	Symptomatic seizures (HP:0011145)	4.45240904
9	Hyperglycemia (HP:0003074)	4.19576543
10	Pancreatic islet-cell hyperplasia (HP:0004510)	4.02908825
11	Hypothermia (HP:0002045)	3.79711786
12	Late onset (HP:0003584)	3.60120877
13	Ketosis (HP:0001946)	3.59201226
14	Prominent metopic ridge (HP:0005487)	3.44747033
15	Abnormality of the metopic suture (HP:0005556)	3.24464001
16	Insulin-resistant diabetes mellitus (HP:0000831)	3.17279326
17	Molar tooth sign on MRI (HP:0002419)	3.06710684
18	Abnormality of midbrain morphology (HP:0002418)	3.06710684
19	Pancreatic cysts (HP:0001737)	3.01617043
20	Hepatic necrosis (HP:0002605)	3.00517618
21	Muscle hypertrophy of the lower extremities (HP:0008968)	2.99814580
22	Calf muscle hypertrophy (HP:0008981)	2.95773982
23	Hypomagnesemia (HP:0002917)	2.93456719
24	Abnormality of the renal cortex (HP:0011035)	2.92491474
25	Nephronophthisis (HP:0000090)	2.91169552
26	Congenital stationary night blindness (HP:0007642)	2.86391048
27	Hyperventilation (HP:0002883)	2.70131468
28	Polydipsia (HP:0001959)	2.66778041
29	Abnormal drinking behavior (HP:0030082)	2.66778041
30	Pancreatic fibrosis (HP:0100732)	2.64537701
31	Abnormality of the renal medulla (HP:0100957)	2.56266552
32	Hypsarrhythmia (HP:0002521)	2.50988583
33	EEG with generalized epileptiform discharges (HP:0011198)	2.49390789
34	Epileptiform EEG discharges (HP:0011182)	2.47261989
35	Progressive inability to walk (HP:0002505)	2.45498692
36	Hepatocellular necrosis (HP:0001404)	2.38477407
37	True hermaphroditism (HP:0010459)	2.34993201
38	Progressive macrocephaly (HP:0004481)	2.30879724
39	Hemiparesis (HP:0001269)	2.25295976
40	Mitochondrial inheritance (HP:0001427)	2.25010073
41	Muscle fiber inclusion bodies (HP:0100299)	2.24908221
42	Renal cortical cysts (HP:0000803)	2.18545371
43	Type I diabetes mellitus (HP:0100651)	2.17735210
44	Increased CSF lactate (HP:0002490)	2.17138336
45	Acute necrotizing encephalopathy (HP:0006965)	2.11880064
46	Nemaline bodies (HP:0003798)	2.10994201
47	Abnormality of magnesium homeostasis (HP:0004921)	2.08378465
48	Medial flaring of the eyebrow (HP:0010747)	2.08288395
49	Tubular atrophy (HP:0000092)	2.07471698
50	Increased circulating renin level (HP:0000848)	2.07296278
51	Polyuria (HP:0000103)	2.06036008
52	Methylmalonic acidemia (HP:0002912)	2.04464868
53	Attenuation of retinal blood vessels (HP:0007843)	2.02623007
54	Type II lissencephaly (HP:0007260)	2.02150846
55	Abnormal rod and cone electroretinograms (HP:0008323)	2.00383071
56	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.00133217
57	Intestinal atresia (HP:0011100)	1.98247342
58	Gaze-evoked nystagmus (HP:0000640)	1.97568778
59	Inability to walk (HP:0002540)	1.96039947
60	Febrile seizures (HP:0002373)	1.93544107
61	Muscular hypotonia of the trunk (HP:0008936)	1.92887879
62	Agitation (HP:0000713)	1.92579905
63	Tachypnea (HP:0002789)	1.91546914
64	Abolished electroretinogram (ERG) (HP:0000550)	1.89548962
65	Downturned corners of mouth (HP:0002714)	1.87048224
66	Albinism (HP:0001022)	1.82935449
67	Broad-based gait (HP:0002136)	1.81303610
68	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.80665824
69	Hypoplasia of the fovea (HP:0007750)	1.80665824
70	Abnormal pancreas size (HP:0012094)	1.78862921
71	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.78591825
72	Methylmalonic aciduria (HP:0012120)	1.77658719
73	Tongue fasciculations (HP:0001308)	1.76133966
74	Acute encephalopathy (HP:0006846)	1.74912887
75	Furrowed tongue (HP:0000221)	1.74831562
76	Dicarboxylic aciduria (HP:0003215)	1.74502469
77	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.74502469
78	Neoplasm of the adrenal cortex (HP:0100641)	1.73607852
79	Dialeptic seizures (HP:0011146)	1.73286390
80	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.72604980
81	Myoglobinuria (HP:0002913)	1.71795773
82	Exercise-induced muscle cramps (HP:0003710)	1.71063857
83	Cystic liver disease (HP:0006706)	1.66605623
84	Abnormal mitochondria in muscle tissue (HP:0008316)	1.65652724
85	Congenital, generalized hypertrichosis (HP:0004540)	1.64792730
86	Stomatitis (HP:0010280)	1.63681742
87	Hamartoma of the eye (HP:0010568)	1.63561366
88	Abnormal urine output (HP:0012590)	1.62839968
89	Abnormality of renin-angiotensin system (HP:0000847)	1.62152925
90	Tetany (HP:0001281)	1.62047090
91	Abnormality of the pons (HP:0007361)	1.61845754
92	Frequent falls (HP:0002359)	1.61722072
93	Severe muscular hypotonia (HP:0006829)	1.59962207
94	Hematochezia (HP:0002573)	1.59919288
95	Hypokinesia (HP:0002375)	1.59832625
96	Abnormality of vitamin B metabolism (HP:0004340)	1.59717917
97	Enlarged penis (HP:0000040)	1.58886931
98	Decreased circulating renin level (HP:0003351)	1.58625418
99	Hypokalemia (HP:0002900)	1.58286683
100	Disproportionate short-trunk short stature (HP:0003521)	1.58092495

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.95830609
2	PHKG2	2.76730111
3	PHKG1	2.76730111
4	OBSCN	2.69325970
5	ADRBK2	2.59484900
6	DAPK2	2.44919161
7	INSRR	2.40142294
8	PINK1	2.30830802
9	WNK3	2.26514854
10	PASK	2.16405724
11	GRK1	2.14871849
12	NTRK3	2.10525957
13	TNIK	2.05187278
14	NUAK1	2.00457707
15	ACVR1B	1.99459562
16	BMPR1B	1.96902018
17	MST4	1.78611996
18	FGFR2	1.77364110
19	OXSR1	1.65317044
20	MAP4K2	1.61621218
21	TAOK3	1.54965202
22	CASK	1.51264063
23	MAPK13	1.49545759
24	PNCK	1.42042442
25	ZAK	1.36223810
26	MAP2K6	1.33634627
27	MARK1	1.31172740
28	STK39	1.25329727
29	PAK3	1.23257725
30	PIK3CG	1.17252582
31	WNK4	1.13763337
32	IRAK1	1.08082655
33	CAMKK2	1.06335513
34	MAPKAPK3	1.05924967
35	NLK	1.05109604
36	PRKCE	1.04188776
37	TXK	1.04186022
38	MAP3K4	1.00947363
39	EIF2AK3	1.00767049
40	CSNK1G1	0.99019650
41	STK3	0.98409519
42	PRKAA2	0.98329024
43	FER	0.98192776
44	PTK2B	0.95594069
45	PLK2	0.89839403
46	HIPK2	0.88497380
47	MKNK2	0.83574863
48	PRKCG	0.83146210
49	CSNK1G3	0.79091824
50	CSNK1G2	0.76026904
51	ADRBK1	0.75468212
52	SGK2	0.73606463
53	TRPM7	0.72534285
54	STK38L	0.72193205
55	MUSK	0.71385186
56	PRKAA1	0.69510199
57	ERBB3	0.68386573
58	TRIM28	0.63361090
59	IKBKB	0.62591930
60	CAMK1	0.59568816
61	PLK3	0.58640617
62	TLK1	0.57204716
63	TNK2	0.55656798
64	MAP3K9	0.55392613
65	PRKACA	0.54954755
66	CDK3	0.54713946
67	AKT3	0.53812957
68	DYRK2	0.53038197
69	PRKG1	0.52897111
70	TEC	0.52837264
71	TIE1	0.51010962
72	CHUK	0.49210476
73	CAMK2A	0.48186353
74	VRK1	0.48072732
75	TAF1	0.45487591
76	CSNK1A1L	0.45337644
77	MAP2K7	0.44983559
78	CAMK1G	0.44643183
79	STK11	0.44257111
80	EPHA3	0.42739021
81	GRK7	0.40568164
82	MAP3K1	0.39699367
83	FGFR3	0.39116729
84	CAMK2D	0.38987870
85	PKN1	0.38686357
86	PRKCI	0.38320483
87	CSNK1A1	0.37895982
88	MAP3K2	0.37380404
89	NME1	0.36578903
90	SGK494	0.33455317
91	SGK223	0.33455317
92	PRKCA	0.31699895
93	MAP3K7	0.30781547
94	FES	0.29100656
95	CSNK1D	0.26605020
96	ITK	0.26523690
97	PRKCZ	0.24899048
98	SGK1	0.24794723
99	TGFBR1	0.24277120
100	STK24	0.24116181

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	6.47081233
2	Butanoate metabolism_Homo sapiens_hsa00650	3.09727251
3	Protein export_Homo sapiens_hsa03060	2.98775558
4	Insulin secretion_Homo sapiens_hsa04911	2.68870391
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.25565335
6	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.20779678
7	Type II diabetes mellitus_Homo sapiens_hsa04930	2.16927681
8	Phototransduction_Homo sapiens_hsa04744	2.16846194
9	Tryptophan metabolism_Homo sapiens_hsa00380	2.13821280
10	Oxidative phosphorylation_Homo sapiens_hsa00190	2.08741295
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.97839430
12	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.88709653
13	Regulation of autophagy_Homo sapiens_hsa04140	1.83884166
14	Sulfur metabolism_Homo sapiens_hsa00920	1.78686711
15	Selenocompound metabolism_Homo sapiens_hsa00450	1.76950327
16	Collecting duct acid secretion_Homo sapiens_hsa04966	1.69184096
17	Type I diabetes mellitus_Homo sapiens_hsa04940	1.66516785
18	Propanoate metabolism_Homo sapiens_hsa00640	1.61535802
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.53166649
20	Linoleic acid metabolism_Homo sapiens_hsa00591	1.47427710
21	Fatty acid elongation_Homo sapiens_hsa00062	1.46085714
22	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.44391278
23	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.39419450
24	Cardiac muscle contraction_Homo sapiens_hsa04260	1.37791498
25	Fatty acid degradation_Homo sapiens_hsa00071	1.36892432
26	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.32552472
27	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.29732057
28	Parkinsons disease_Homo sapiens_hsa05012	1.23824022
29	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.22690810
30	Ether lipid metabolism_Homo sapiens_hsa00565	1.20143292
31	ABC transporters_Homo sapiens_hsa02010	1.20111992
32	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.19744828
33	Circadian rhythm_Homo sapiens_hsa04710	1.13580713
34	Peroxisome_Homo sapiens_hsa04146	1.11656843
35	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.11159751
36	Fatty acid metabolism_Homo sapiens_hsa01212	1.11149391
37	beta-Alanine metabolism_Homo sapiens_hsa00410	1.05191021
38	Nicotine addiction_Homo sapiens_hsa05033	1.04384208
39	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.97573640
40	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97524853
41	Taste transduction_Homo sapiens_hsa04742	0.96673731
42	Alzheimers disease_Homo sapiens_hsa05010	0.94403929
43	Basal transcription factors_Homo sapiens_hsa03022	0.94092225
44	Circadian entrainment_Homo sapiens_hsa04713	0.83987221
45	Caffeine metabolism_Homo sapiens_hsa00232	0.83756572
46	Mineral absorption_Homo sapiens_hsa04978	0.83459444
47	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.81175237
48	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.81162166
49	Renin secretion_Homo sapiens_hsa04924	0.80757616
50	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.79565972
51	Olfactory transduction_Homo sapiens_hsa04740	0.74868602
52	One carbon pool by folate_Homo sapiens_hsa00670	0.73800817
53	Amphetamine addiction_Homo sapiens_hsa05031	0.70696494
54	Salivary secretion_Homo sapiens_hsa04970	0.69988158
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.68443506
56	RNA polymerase_Homo sapiens_hsa03020	0.67515130
57	Serotonergic synapse_Homo sapiens_hsa04726	0.66291234
58	Calcium signaling pathway_Homo sapiens_hsa04020	0.66079045
59	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.65784155
60	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.65057000
61	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.64332562
62	Morphine addiction_Homo sapiens_hsa05032	0.64316911
63	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.63425000
64	Homologous recombination_Homo sapiens_hsa03440	0.63248023
65	Cocaine addiction_Homo sapiens_hsa05030	0.63118722
66	Glutamatergic synapse_Homo sapiens_hsa04724	0.62342666
67	Glucagon signaling pathway_Homo sapiens_hsa04922	0.61173430
68	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.59076982
69	Chemical carcinogenesis_Homo sapiens_hsa05204	0.58896007
70	Huntingtons disease_Homo sapiens_hsa05016	0.58881216
71	GABAergic synapse_Homo sapiens_hsa04727	0.58298490
72	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.56476561
73	Glycerolipid metabolism_Homo sapiens_hsa00561	0.55795925
74	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.55123870
75	RNA degradation_Homo sapiens_hsa03018	0.52816770
76	Rheumatoid arthritis_Homo sapiens_hsa05323	0.52228010
77	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.51569554
78	Lysine degradation_Homo sapiens_hsa00310	0.49921286
79	Retinol metabolism_Homo sapiens_hsa00830	0.49920638
80	Sphingolipid metabolism_Homo sapiens_hsa00600	0.48357302
81	Dopaminergic synapse_Homo sapiens_hsa04728	0.48023538
82	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.47831788
83	Long-term depression_Homo sapiens_hsa04730	0.46988480
84	Insulin resistance_Homo sapiens_hsa04931	0.46706840
85	Metabolic pathways_Homo sapiens_hsa01100	0.46606768
86	Pancreatic secretion_Homo sapiens_hsa04972	0.45786425
87	Histidine metabolism_Homo sapiens_hsa00340	0.44727252
88	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.44693129
89	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.44623760
90	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.43922419
91	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.43909501
92	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.43604317
93	Proteasome_Homo sapiens_hsa03050	0.43112717
94	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.41803002
95	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.41673196
96	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.40017831
97	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.39331746
98	Fanconi anemia pathway_Homo sapiens_hsa03460	0.39185165
99	Purine metabolism_Homo sapiens_hsa00230	0.37981879
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.37015909

C1ORF127

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

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