ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	neural tube formation (GO:0001841)	5.19533006
2	fucose catabolic process (GO:0019317)	4.35278884
3	L-fucose metabolic process (GO:0042354)	4.35278884
4	L-fucose catabolic process (GO:0042355)	4.35278884
5	negative regulation of cytosolic calcium ion concentration (GO:0051481)	4.23260451
6	startle response (GO:0001964)	4.22666493
7	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.97400638
8	protein K11-linked deubiquitination (GO:0035871)	3.69273272
9	serotonin metabolic process (GO:0042428)	3.65380519
10	tachykinin receptor signaling pathway (GO:0007217)	3.59626286
11	response to pheromone (GO:0019236)	3.53891909
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.51894196
13	behavioral response to ethanol (GO:0048149)	3.47325999
14	primary amino compound metabolic process (GO:1901160)	3.44069279
15	neuronal action potential (GO:0019228)	3.40856908
16	axoneme assembly (GO:0035082)	3.37863670
17	regulation of telomere maintenance (GO:0032204)	3.27304267
18	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	3.27198700
19	DNA double-strand break processing (GO:0000729)	3.21524217
20	RNA destabilization (GO:0050779)	3.14044919
21	nodal signaling pathway (GO:0038092)	3.10074889
22	retinal cone cell development (GO:0046549)	3.08348176
23	phenylpropanoid metabolic process (GO:0009698)	3.07689915
24	positive regulation of developmental pigmentation (GO:0048087)	3.06565821
25	forebrain neuron differentiation (GO:0021879)	3.06389723
26	behavioral response to nicotine (GO:0035095)	3.05036481
27	relaxation of cardiac muscle (GO:0055119)	3.03416761
28	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.02938395
29	embryonic epithelial tube formation (GO:0001838)	3.01519930
30	kidney morphogenesis (GO:0060993)	3.00949122
31	flavonoid metabolic process (GO:0009812)	2.98998319
32	epithelial cilium movement (GO:0003351)	2.97506954
33	establishment of protein localization to Golgi (GO:0072600)	2.95684348
34	negative regulation of telomere maintenance (GO:0032205)	2.92549742
35	appendage development (GO:0048736)	2.89722526
36	limb development (GO:0060173)	2.89722526
37	presynaptic membrane assembly (GO:0097105)	2.89690929
38	transmission of nerve impulse (GO:0019226)	2.87674449
39	snRNA transcription (GO:0009301)	2.87480687
40	sulfation (GO:0051923)	2.84398706
41	adaptation of signaling pathway (GO:0023058)	2.82817855
42	regulation of penile erection (GO:0060405)	2.81346815
43	regulation of establishment of cell polarity (GO:2000114)	2.81220086
44	S-adenosylmethionine metabolic process (GO:0046500)	2.80183525
45	epithelial tube formation (GO:0072175)	2.78241599
46	negative regulation of mast cell activation (GO:0033004)	2.75908799
47	cardiovascular system development (GO:0072358)	2.75886138
48	signal transduction involved in regulation of gene expression (GO:0023019)	2.75819003
49	organelle disassembly (GO:1903008)	2.74983118
50	limb bud formation (GO:0060174)	2.74757815
51	somite development (GO:0061053)	2.72889493
52	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.72303140
53	respiratory chain complex IV assembly (GO:0008535)	2.72276759
54	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.72244413
55	detection of light stimulus involved in visual perception (GO:0050908)	2.71411588
56	detection of light stimulus involved in sensory perception (GO:0050962)	2.71411588
57	regulation of pigment cell differentiation (GO:0050932)	2.71102096
58	spinal cord motor neuron differentiation (GO:0021522)	2.70585234
59	indole-containing compound metabolic process (GO:0042430)	2.69621352
60	regulation of timing of cell differentiation (GO:0048505)	2.65349674
61	tryptophan catabolic process (GO:0006569)	2.65098471
62	indole-containing compound catabolic process (GO:0042436)	2.65098471
63	indolalkylamine catabolic process (GO:0046218)	2.65098471
64	membrane depolarization during action potential (GO:0086010)	2.63382398
65	methionine biosynthetic process (GO:0009086)	2.61714646
66	prenylation (GO:0097354)	2.61403809
67	protein prenylation (GO:0018342)	2.61403809
68	protein K6-linked ubiquitination (GO:0085020)	2.60516474
69	regulation of sarcomere organization (GO:0060297)	2.56157837
70	reflex (GO:0060004)	2.55643995
71	ionotropic glutamate receptor signaling pathway (GO:0035235)	2.54531578
72	positive regulation of digestive system process (GO:0060456)	2.53540768
73	photoreceptor cell maintenance (GO:0045494)	2.53274982
74	cilium movement (GO:0003341)	2.52054362
75	protein targeting to Golgi (GO:0000042)	2.51790963
76	activated T cell proliferation (GO:0050798)	2.50363037
77	secondary heart field specification (GO:0003139)	2.48806510
78	heart field specification (GO:0003128)	2.48806510
79	pancreas development (GO:0031016)	2.48582109
80	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	2.48546222
81	synaptic transmission, glutamatergic (GO:0035249)	2.47687590
82	inner ear receptor stereocilium organization (GO:0060122)	2.47429642
83	gamma-aminobutyric acid transport (GO:0015812)	2.45950334
84	DNA deamination (GO:0045006)	2.45856751
85	positive regulation of granulocyte differentiation (GO:0030854)	2.45803242
86	platelet dense granule organization (GO:0060155)	2.44927382
87	cardiac right ventricle morphogenesis (GO:0003215)	2.44555116
88	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	2.43187513
89	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	2.43187513
90	microtubule nucleation (GO:0007020)	2.43066457
91	regulation of action potential (GO:0098900)	2.42961943
92	cellular ketone body metabolic process (GO:0046950)	2.42493110
93	presynaptic membrane organization (GO:0097090)	2.42316978
94	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.41196788
95	fucosylation (GO:0036065)	2.38387702
96	regulation of establishment or maintenance of cell polarity (GO:0032878)	2.38206923
97	activin receptor signaling pathway (GO:0032924)	2.37532810
98	cilium organization (GO:0044782)	2.37161711
99	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.35687443
100	positive regulation of growth hormone secretion (GO:0060124)	2.35660554

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.73976881
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.05078021
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.98116195
4	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.86202287
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.85827031
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.69448390
7	FUS_26573619_Chip-Seq_HEK293_Human	2.69165833
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.67854009
9	TAF15_26573619_Chip-Seq_HEK293_Human	2.57840142
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.46905396
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.43883471
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.41087132
13	P300_19829295_ChIP-Seq_ESCs_Human	2.34570679
14	IGF1R_20145208_ChIP-Seq_DFB_Human	2.32304435
15	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.24909078
16	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.18484288
17	EZH2_22144423_ChIP-Seq_EOC_Human	2.13677079
18	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.09218246
19	ER_23166858_ChIP-Seq_MCF-7_Human	2.08193704
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.07213783
21	EWS_26573619_Chip-Seq_HEK293_Human	2.07033495
22	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.89897343
23	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.85176769
24	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.78454023
25	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.76903273
26	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.76607558
27	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.69848757
28	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.67073256
29	SMAD4_21799915_ChIP-Seq_A2780_Human	1.64813671
30	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.59338467
31	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.57916299
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.57244851
33	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.57124092
34	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.55851988
35	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.55657653
36	STAT3_23295773_ChIP-Seq_U87_Human	1.53258557
37	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.52896235
38	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.52896235
39	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.51876623
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.51613555
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.51180645
42	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.50807377
43	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.49872579
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.48834878
45	TCF4_23295773_ChIP-Seq_U87_Human	1.46022024
46	AR_21572438_ChIP-Seq_LNCaP_Human	1.45127711
47	AR_25329375_ChIP-Seq_VCAP_Human	1.45061669
48	GATA1_22025678_ChIP-Seq_K562_Human	1.44845921
49	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.44844881
50	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.44486738
51	RUNX2_22187159_ChIP-Seq_PCA_Human	1.44445925
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.43711870
53	TCF4_22108803_ChIP-Seq_LS180_Human	1.42544696
54	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.39835629
55	CBP_20019798_ChIP-Seq_JUKART_Human	1.38523031
56	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.38523031
57	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36992967
58	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.32076528
59	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.30177296
60	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.29435112
61	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.28362302
62	RNF2_27304074_Chip-Seq_NSC_Mouse	1.28357125
63	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.28034785
64	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.27156025
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.26470087
66	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.24964150
67	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.20791046
68	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.20791046
69	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.19171852
70	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.17585219
71	TP53_22573176_ChIP-Seq_HFKS_Human	1.16315261
72	ELK1_19687146_ChIP-ChIP_HELA_Human	1.13478642
73	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.12815973
74	P53_22387025_ChIP-Seq_ESCs_Mouse	1.12784475
75	MYC_18940864_ChIP-ChIP_HL60_Human	1.12277006
76	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11626640
77	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.10788739
78	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.10386099
79	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.10185852
80	REST_21632747_ChIP-Seq_MESCs_Mouse	1.10031484
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.08726349
82	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.06497654
83	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.05655934
84	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.05476288
85	NANOG_19829295_ChIP-Seq_ESCs_Human	1.05124481
86	SOX2_19829295_ChIP-Seq_ESCs_Human	1.05124481
87	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.04454916
88	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.04340552
89	P300_18555785_Chip-Seq_ESCs_Mouse	1.04273734
90	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.03692294
91	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.02963880
92	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.01473067
93	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.01022564
94	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.00798815
95	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.00527679
96	TBL1_22424771_ChIP-Seq_293T_Human	1.00492412
97	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.00473139
98	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.99891084
99	AHR_22903824_ChIP-Seq_MCF-7_Human	0.99062583
100	AR_20517297_ChIP-Seq_VCAP_Human	0.98537818

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002736_abnormal_nociception_after	3.20146922
2	MP0001968_abnormal_touch/_nociception	3.08061018
3	MP0010386_abnormal_urinary_bladder	3.00821608
4	MP0008877_abnormal_DNA_methylation	2.98858723
5	MP0002102_abnormal_ear_morphology	2.75005008
6	MP0004043_abnormal_pH_regulation	2.62091946
7	MP0002254_reproductive_system_inflammat	2.57920115
8	MP0005645_abnormal_hypothalamus_physiol	2.56125115
9	MP0000427_abnormal_hair_cycle	2.53243111
10	MP0003880_abnormal_central_pattern	2.40302229
11	MP0001501_abnormal_sleep_pattern	2.34019734
12	MP0000569_abnormal_digit_pigmentation	2.30949090
13	MP0003195_calcinosis	2.27901465
14	MP0003890_abnormal_embryonic-extraembry	2.21053358
15	MP0009745_abnormal_behavioral_response	2.03200333
16	MP0000631_abnormal_neuroendocrine_gland	1.99816665
17	MP0008995_early_reproductive_senescence	1.99759702
18	MP0001486_abnormal_startle_reflex	1.89662321
19	MP0006072_abnormal_retinal_apoptosis	1.89171892
20	MP0003136_yellow_coat_color	1.86813083
21	MP0003646_muscle_fatigue	1.84987102
22	MP0003252_abnormal_bile_duct	1.77733059
23	MP0005551_abnormal_eye_electrophysiolog	1.70750472
24	MP0002733_abnormal_thermal_nociception	1.68353529
25	MP0002272_abnormal_nervous_system	1.64775441
26	MP0002928_abnormal_bile_duct	1.59891847
27	MP0005174_abnormal_tail_pigmentation	1.58346230
28	MP0004133_heterotaxia	1.51706267
29	MP0005075_abnormal_melanosome_morpholog	1.50663490
30	MP0002064_seizures	1.46049461
31	MP0009046_muscle_twitch	1.43582431
32	MP0008057_abnormal_DNA_replication	1.41773352
33	MP0002876_abnormal_thyroid_physiology	1.41536653
34	MP0002638_abnormal_pupillary_reflex	1.41367550
35	MP0008872_abnormal_physiological_respon	1.40289750
36	MP0000015_abnormal_ear_pigmentation	1.35946527
37	MP0001970_abnormal_pain_threshold	1.35623388
38	MP0005253_abnormal_eye_physiology	1.35566044
39	MP0003787_abnormal_imprinting	1.33286490
40	MP0000372_irregular_coat_pigmentation	1.33257053
41	MP0005647_abnormal_sex_gland	1.32206048
42	MP0002067_abnormal_sensory_capabilities	1.31950987
43	MP0002163_abnormal_gland_morphology	1.31696960
44	MP0003635_abnormal_synaptic_transmissio	1.30151908
45	MP0002735_abnormal_chemical_nociception	1.22678620
46	MP0005646_abnormal_pituitary_gland	1.20789256
47	MP0005187_abnormal_penis_morphology	1.18268874
48	MP0002095_abnormal_skin_pigmentation	1.18155297
49	MP0002837_dystrophic_cardiac_calcinosis	1.17738633
50	MP0005084_abnormal_gallbladder_morpholo	1.17372421
51	MP0002184_abnormal_innervation	1.16810766
52	MP0008058_abnormal_DNA_repair	1.15747015
53	MP0001919_abnormal_reproductive_system	1.14892843
54	MP0004142_abnormal_muscle_tone	1.14378965
55	MP0001986_abnormal_taste_sensitivity	1.14092400
56	MP0008875_abnormal_xenobiotic_pharmacok	1.13873471
57	MP0001485_abnormal_pinna_reflex	1.13447128
58	MP0005379_endocrine/exocrine_gland_phen	1.13295214
59	MP0000383_abnormal_hair_follicle	1.12869906
60	MP0000647_abnormal_sebaceous_gland	1.12511902
61	MP0006292_abnormal_olfactory_placode	1.12227464
62	MP0002572_abnormal_emotion/affect_behav	1.10598157
63	MP0004924_abnormal_behavior	1.10410386
64	MP0005386_behavior/neurological_phenoty	1.10410386
65	MP0002751_abnormal_autonomic_nervous	1.09432156
66	MP0003698_abnormal_male_reproductive	1.07652471
67	MP0002557_abnormal_social/conspecific_i	1.02647370
68	MP0006035_abnormal_mitochondrial_morpho	1.02550433
69	MP0003879_abnormal_hair_cell	1.02502408
70	MP0005389_reproductive_system_phenotype	1.00711848
71	MP0002210_abnormal_sex_determination	0.97714766
72	MP0000778_abnormal_nervous_system	0.96374269
73	MP0003786_premature_aging	0.95916075
74	MP0001929_abnormal_gametogenesis	0.95512115
75	MP0003943_abnormal_hepatobiliary_system	0.91357839
76	MP0004215_abnormal_myocardial_fiber	0.90946391
77	MP0006276_abnormal_autonomic_nervous	0.90816997
78	MP0002909_abnormal_adrenal_gland	0.89828599
79	MP0002063_abnormal_learning/memory/cond	0.88503817
80	MP0002090_abnormal_vision	0.85915006
81	MP0004147_increased_porphyrin_level	0.84540644
82	MP0001756_abnormal_urination	0.83273583
83	MP0002160_abnormal_reproductive_system	0.82340316
84	MP0003137_abnormal_impulse_conducting	0.81726732
85	MP0002234_abnormal_pharynx_morphology	0.80675883
86	MP0001905_abnormal_dopamine_level	0.79841986
87	MP0001119_abnormal_female_reproductive	0.76936556
88	MP0005266_abnormal_metabolism	0.75729025
89	MP0000653_abnormal_sex_gland	0.75156978
90	MP0003567_abnormal_fetal_cardiomyocyte	0.74846604
91	MP0008961_abnormal_basal_metabolism	0.74407972
92	MP0003718_maternal_effect	0.72559043
93	MP0005410_abnormal_fertilization	0.72508619
94	MP0001963_abnormal_hearing_physiology	0.70718835
95	MP0004085_abnormal_heartbeat	0.70391648
96	MP0004885_abnormal_endolymph	0.70272024
97	MP0004134_abnormal_chest_morphology	0.70264998
98	MP0002653_abnormal_ependyma_morphology	0.69686057
99	MP0002693_abnormal_pancreas_physiology	0.69677325
100	MP0001765_abnormal_ion_homeostasis	0.68441846

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperventilation (HP:0002883)	5.00082211
2	Intestinal atresia (HP:0011100)	4.13819416
3	Molar tooth sign on MRI (HP:0002419)	3.61930373
4	Abnormality of midbrain morphology (HP:0002418)	3.61930373
5	Oligodactyly (hands) (HP:0001180)	3.41234981
6	Tubular atrophy (HP:0000092)	3.37967675
7	Pancreatic cysts (HP:0001737)	3.31164022
8	Absent speech (HP:0001344)	3.26532817
9	Homocystinuria (HP:0002156)	3.22127405
10	Abnormality of homocysteine metabolism (HP:0010919)	3.22127405
11	Congenital stationary night blindness (HP:0007642)	3.20243287
12	Hyperalaninemia (HP:0003348)	3.19553494
13	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.19553494
14	Abnormality of alanine metabolism (HP:0010916)	3.19553494
15	Abnormal drinking behavior (HP:0030082)	3.05258143
16	Polydipsia (HP:0001959)	3.05258143
17	Nephronophthisis (HP:0000090)	2.91264948
18	Volvulus (HP:0002580)	2.85082749
19	Cupped ear (HP:0000378)	2.78473030
20	Abnormality of the renal cortex (HP:0011035)	2.76039170
21	Genetic anticipation (HP:0003743)	2.75411704
22	Pancreatic fibrosis (HP:0100732)	2.73758891
23	Gastrointestinal atresia (HP:0002589)	2.67794331
24	True hermaphroditism (HP:0010459)	2.63304017
25	Abnormality of the renal medulla (HP:0100957)	2.59854396
26	Widely spaced teeth (HP:0000687)	2.48896845
27	Febrile seizures (HP:0002373)	2.46549994
28	Protruding tongue (HP:0010808)	2.38788330
29	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.36885543
30	Inability to walk (HP:0002540)	2.35999740
31	Large for gestational age (HP:0001520)	2.34263119
32	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.29978755
33	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.25822761
34	Tented upper lip vermilion (HP:0010804)	2.25330859
35	Broad-based gait (HP:0002136)	2.23855976
36	Focal motor seizures (HP:0011153)	2.23142525
37	Abolished electroretinogram (ERG) (HP:0000550)	2.22336678
38	Drooling (HP:0002307)	2.21212301
39	Hypomagnesemia (HP:0002917)	2.20304396
40	Type II lissencephaly (HP:0007260)	2.20222311
41	Progressive inability to walk (HP:0002505)	2.18125590
42	Oligodactyly (HP:0012165)	2.16362684
43	Polyuria (HP:0000103)	2.14205758
44	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.12150955
45	Oculomotor apraxia (HP:0000657)	2.11259456
46	Hematochezia (HP:0002573)	2.11230056
47	Abnormality of serum amino acid levels (HP:0003112)	2.10197714
48	Abnormality of vitamin B metabolism (HP:0004340)	2.09256649
49	Progressive cerebellar ataxia (HP:0002073)	2.06808902
50	Abnormality of methionine metabolism (HP:0010901)	2.06708912
51	Excessive salivation (HP:0003781)	2.02674845
52	Fair hair (HP:0002286)	2.02653248
53	Retinal dysplasia (HP:0007973)	2.01653889
54	Abnormality of the ileum (HP:0001549)	2.01451639
55	Preaxial hand polydactyly (HP:0001177)	1.98035716
56	Severe visual impairment (HP:0001141)	1.96836843
57	Sclerocornea (HP:0000647)	1.95121763
58	Dialeptic seizures (HP:0011146)	1.94481943
59	Abnormal respiratory epithelium morphology (HP:0012253)	1.94413747
60	Abnormal respiratory motile cilium morphology (HP:0005938)	1.94413747
61	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.94080843
62	Poor coordination (HP:0002370)	1.93254558
63	Abnormality of chromosome stability (HP:0003220)	1.92835735
64	Small hand (HP:0200055)	1.92267305
65	Abnormality of B cell number (HP:0010975)	1.91071176
66	Palpebral edema (HP:0100540)	1.88615303
67	Generalized hypopigmentation of hair (HP:0011358)	1.87614320
68	Gaze-evoked nystagmus (HP:0000640)	1.87134177
69	Split foot (HP:0001839)	1.86593876
70	Medial flaring of the eyebrow (HP:0010747)	1.86281441
71	Submucous cleft hard palate (HP:0000176)	1.85809826
72	Cystic liver disease (HP:0006706)	1.85205300
73	Absent/shortened dynein arms (HP:0200106)	1.84965502
74	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.84965502
75	Albinism (HP:0001022)	1.83637939
76	Lissencephaly (HP:0001339)	1.83089019
77	Gonadotropin excess (HP:0000837)	1.82934518
78	Bifid tongue (HP:0010297)	1.82171762
79	Abnormal rod and cone electroretinograms (HP:0008323)	1.81616518
80	Tubulointerstitial abnormality (HP:0001969)	1.79514385
81	Supernumerary spleens (HP:0009799)	1.78620223
82	B lymphocytopenia (HP:0010976)	1.76613839
83	Congenital hepatic fibrosis (HP:0002612)	1.74748851
84	Chronic hepatic failure (HP:0100626)	1.74408929
85	Tubulointerstitial fibrosis (HP:0005576)	1.71696160
86	Hepatic necrosis (HP:0002605)	1.70884718
87	Astigmatism (HP:0000483)	1.70798090
88	Abnormal urine output (HP:0012590)	1.70663812
89	Absent eyebrow (HP:0002223)	1.70405286
90	Hepatocellular necrosis (HP:0001404)	1.69173199
91	Optic disc pallor (HP:0000543)	1.67285123
92	Hypothermia (HP:0002045)	1.66224212
93	Hypoplastic iliac wings (HP:0002866)	1.65200023
94	Meckel diverticulum (HP:0002245)	1.65007848
95	Short foot (HP:0001773)	1.64040946
96	Abnormality of the pons (HP:0007361)	1.63038148
97	Fibular aplasia (HP:0002990)	1.62437331
98	Abnormal biliary tract physiology (HP:0012439)	1.61547022
99	Bile duct proliferation (HP:0001408)	1.61547022
100	Aplasia involving forearm bones (HP:0009822)	1.61500357

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.38154326
2	ACVR1B	3.55180628
3	BMPR1B	3.00205838
4	CASK	2.96421562
5	MAPK13	2.50357783
6	MAP4K2	2.14087944
7	ADRBK2	2.14082688
8	STK39	2.11268192
9	WNK3	2.00686487
10	MARK1	1.93125972
11	PINK1	1.84529826
12	MKNK2	1.81700194
13	WNK4	1.75739968
14	NUAK1	1.72179336
15	OXSR1	1.68191131
16	GRK1	1.55457301
17	MST4	1.54800196
18	IRAK1	1.54112121
19	MAP3K4	1.48774949
20	RPS6KA4	1.42336761
21	STK16	1.41618022
22	AKT3	1.40931545
23	BRSK2	1.30464592
24	ZAK	1.27800136
25	TAOK3	1.22637522
26	PLK2	1.21875963
27	PRKCG	1.13179565
28	WEE1	1.12985941
29	EPHA3	1.09020770
30	CCNB1	1.06504704
31	CAMKK2	1.06287823
32	CSNK1G2	1.03688751
33	STK38L	1.03629273
34	BCKDK	1.02899339
35	CDK3	0.98956130
36	BRD4	0.97710047
37	MAP3K7	0.94727716
38	PLK4	0.93168672
39	TGFBR1	0.90640481
40	PRKCE	0.90320474
41	ADRBK1	0.87778937
42	INSRR	0.84718488
43	CSNK1G1	0.83461339
44	PAK3	0.80940616
45	CAMK1	0.72568955
46	NLK	0.70382181
47	TEC	0.69269828
48	MKNK1	0.68898636
49	CSNK1A1L	0.67829161
50	PRKCQ	0.67227665
51	SGK2	0.66932712
52	CAMK2A	0.66282554
53	TLK1	0.63742214
54	NTRK2	0.62945585
55	PKN1	0.62425678
56	CSNK1G3	0.62068854
57	MAP2K7	0.61853090
58	MAPK15	0.60832499
59	MAPKAPK3	0.56118100
60	ITK	0.54804263
61	FGFR2	0.54704317
62	TNIK	0.54090818
63	TXK	0.53086414
64	PNCK	0.52531975
65	ERBB3	0.52300954
66	IRAK2	0.51795050
67	PRKCI	0.50256719
68	TRIM28	0.50212469
69	PBK	0.50174028
70	TIE1	0.50098924
71	MAP2K6	0.49919694
72	CAMK2B	0.49575022
73	MAP3K9	0.49487245
74	BCR	0.49053951
75	PRKD3	0.48479938
76	ERBB4	0.47716897
77	STK3	0.47656715
78	TSSK6	0.46259181
79	RPS6KA5	0.45623641
80	DAPK2	0.45418255
81	PRKAA1	0.42974595
82	PRKACA	0.42209902
83	PHKG2	0.42119340
84	PHKG1	0.42119340
85	VRK1	0.42045593
86	PIK3CA	0.41070301
87	PLK3	0.40647147
88	LATS2	0.39771791
89	CSNK1D	0.38989551
90	PTK2B	0.38675554
91	STK11	0.37780339
92	CSNK1A1	0.36518222
93	MAP3K12	0.36221407
94	ATR	0.36038430
95	ATM	0.36005294
96	NEK6	0.35212308
97	NTRK3	0.34347641
98	RAF1	0.34265538
99	DAPK1	0.34262927
100	PRKG1	0.33947094

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	3.51707917
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.73599613
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.67136221
4	Phototransduction_Homo sapiens_hsa04744	2.62750016
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.61172820
6	Butanoate metabolism_Homo sapiens_hsa00650	2.42980739
7	Ether lipid metabolism_Homo sapiens_hsa00565	2.41168410
8	Selenocompound metabolism_Homo sapiens_hsa00450	2.23399269
9	Basal transcription factors_Homo sapiens_hsa03022	2.15300002
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.10784896
11	Protein export_Homo sapiens_hsa03060	2.06113379
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.04746731
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.04147385
14	Fanconi anemia pathway_Homo sapiens_hsa03460	2.00449279
15	Taste transduction_Homo sapiens_hsa04742	1.91496527
16	Primary immunodeficiency_Homo sapiens_hsa05340	1.88850756
17	Olfactory transduction_Homo sapiens_hsa04740	1.86394557
18	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.73207308
19	Homologous recombination_Homo sapiens_hsa03440	1.65202613
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.49129741
21	Propanoate metabolism_Homo sapiens_hsa00640	1.45387813
22	Morphine addiction_Homo sapiens_hsa05032	1.41720296
23	One carbon pool by folate_Homo sapiens_hsa00670	1.39967698
24	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.35831712
25	Circadian entrainment_Homo sapiens_hsa04713	1.35625898
26	Caffeine metabolism_Homo sapiens_hsa00232	1.33598015
27	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.32887686
28	Glutamatergic synapse_Homo sapiens_hsa04724	1.30336709
29	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.28058500
30	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.24651632
31	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.21416510
32	Insulin secretion_Homo sapiens_hsa04911	1.18459194
33	GABAergic synapse_Homo sapiens_hsa04727	1.17895930
34	Dopaminergic synapse_Homo sapiens_hsa04728	1.16826847
35	Salivary secretion_Homo sapiens_hsa04970	1.16527145
36	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.13733707
37	Peroxisome_Homo sapiens_hsa04146	1.13531044
38	Amphetamine addiction_Homo sapiens_hsa05031	1.10223988
39	Serotonergic synapse_Homo sapiens_hsa04726	1.03710223
40	Steroid biosynthesis_Homo sapiens_hsa00100	1.03573029
41	RNA polymerase_Homo sapiens_hsa03020	1.03439212
42	RNA degradation_Homo sapiens_hsa03018	1.01881924
43	Cardiac muscle contraction_Homo sapiens_hsa04260	1.01772262
44	Non-homologous end-joining_Homo sapiens_hsa03450	1.01022488
45	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.01015511
46	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.01012476
47	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.99906455
48	Oxidative phosphorylation_Homo sapiens_hsa00190	0.96260450
49	Calcium signaling pathway_Homo sapiens_hsa04020	0.92339541
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.91554662
51	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.91459327
52	Proteasome_Homo sapiens_hsa03050	0.85149066
53	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.83290340
54	Tryptophan metabolism_Homo sapiens_hsa00380	0.82665760
55	Gastric acid secretion_Homo sapiens_hsa04971	0.82526342
56	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.82371353
57	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.79763646
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.79594670
59	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.78701149
60	cAMP signaling pathway_Homo sapiens_hsa04024	0.77660484
61	Oocyte meiosis_Homo sapiens_hsa04114	0.77239991
62	Retinol metabolism_Homo sapiens_hsa00830	0.76479386
63	Renin secretion_Homo sapiens_hsa04924	0.75579209
64	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.72851398
65	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.72300693
66	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.71879951
67	Mineral absorption_Homo sapiens_hsa04978	0.71834568
68	Chemical carcinogenesis_Homo sapiens_hsa05204	0.71742664
69	Long-term depression_Homo sapiens_hsa04730	0.69189569
70	Parkinsons disease_Homo sapiens_hsa05012	0.68702394
71	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.66366409
72	Purine metabolism_Homo sapiens_hsa00230	0.64742294
73	ABC transporters_Homo sapiens_hsa02010	0.64029690
74	Circadian rhythm_Homo sapiens_hsa04710	0.63347542
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62449919
76	Huntingtons disease_Homo sapiens_hsa05016	0.59280911
77	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.58967669
78	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.58208779
79	Alzheimers disease_Homo sapiens_hsa05010	0.56998342
80	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.56440573
81	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.56052418
82	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.54087895
83	Fat digestion and absorption_Homo sapiens_hsa04975	0.52241038
84	Cocaine addiction_Homo sapiens_hsa05030	0.51989547
85	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.49352905
86	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.48758262
87	beta-Alanine metabolism_Homo sapiens_hsa00410	0.47814559
88	Regulation of autophagy_Homo sapiens_hsa04140	0.45513803
89	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.44261042
90	mRNA surveillance pathway_Homo sapiens_hsa03015	0.40431502
91	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.40166854
92	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.39252270
93	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.39115027
94	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.38950804
95	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.38680914
96	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.37521365
97	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.36187851
98	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.33920530
99	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.33106593
100	MAPK signaling pathway_Homo sapiens_hsa04010	0.32784501

OR7E162P

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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