ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.82556710
2	cell proliferation in forebrain (GO:0021846)	5.80445405
3	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.12286707
4	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.12286707
5	NADH dehydrogenase complex assembly (GO:0010257)	5.12286707
6	maturation of SSU-rRNA (GO:0030490)	4.64560813
7	protein complex biogenesis (GO:0070271)	4.53955707
8	water-soluble vitamin biosynthetic process (GO:0042364)	4.33515230
9	mitochondrial respiratory chain complex assembly (GO:0033108)	4.14389098
10	regulation of glomerulus development (GO:0090192)	4.11276423
11	DNA deamination (GO:0045006)	4.03836093
12	otic vesicle formation (GO:0030916)	4.02641297
13	positive regulation of fatty acid oxidation (GO:0046321)	4.02617576
14	sulfation (GO:0051923)	4.01659980
15	pharyngeal system development (GO:0060037)	3.97860832
16	lung morphogenesis (GO:0060425)	3.85468311
17	viral transcription (GO:0019083)	3.70242396
18	regulation of sequestering of triglyceride (GO:0010889)	3.68810653
19	regulation of cell proliferation involved in kidney development (GO:1901722)	3.64391314
20	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	3.57072515
21	branching involved in labyrinthine layer morphogenesis (GO:0060670)	3.52970478
22	negative regulation of appetite (GO:0032099)	3.52947907
23	negative regulation of response to food (GO:0032096)	3.52947907
24	negative regulation of telomerase activity (GO:0051974)	3.52644620
25	translational termination (GO:0006415)	3.38068648
26	mesonephros development (GO:0001823)	3.32190471
27	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.29728948
28	positive regulation of cAMP-mediated signaling (GO:0043950)	3.26700606
29	negative regulation of cardiac muscle tissue development (GO:0055026)	3.25828589
30	somite development (GO:0061053)	3.19653595
31	negative regulation of systemic arterial blood pressure (GO:0003085)	3.17473649
32	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.15440122
33	cellular response to ATP (GO:0071318)	3.13810562
34	transmission of nerve impulse (GO:0019226)	3.13114526
35	parturition (GO:0007567)	3.10955732
36	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.07949244
37	protein polyglutamylation (GO:0018095)	3.06634192
38	regulation of collateral sprouting (GO:0048670)	3.04034196
39	forebrain morphogenesis (GO:0048853)	3.03797395
40	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.03489258
41	ATP synthesis coupled proton transport (GO:0015986)	3.02044882
42	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.02044882
43	dentate gyrus development (GO:0021542)	3.01682947
44	indolalkylamine metabolic process (GO:0006586)	3.00543425
45	gamma-aminobutyric acid transport (GO:0015812)	2.98047477
46	chaperone-mediated protein transport (GO:0072321)	2.97164458
47	male meiosis I (GO:0007141)	2.96627193
48	synapsis (GO:0007129)	2.94039897
49	translational elongation (GO:0006414)	2.92097311
50	lung-associated mesenchyme development (GO:0060484)	2.90568147
51	serine family amino acid catabolic process (GO:0009071)	2.90228682
52	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.88858504
53	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.88858504
54	regulation of telomerase activity (GO:0051972)	2.87340814
55	ribosomal small subunit biogenesis (GO:0042274)	2.86295970
56	ribosomal small subunit assembly (GO:0000028)	2.86038628
57	metanephros development (GO:0001656)	2.85854819
58	positive regulation of fatty acid transport (GO:2000193)	2.84124682
59	piRNA metabolic process (GO:0034587)	2.81520873
60	endoderm formation (GO:0001706)	2.80840012
61	glandular epithelial cell differentiation (GO:0002067)	2.79193636
62	kynurenine metabolic process (GO:0070189)	2.72464369
63	protein neddylation (GO:0045116)	2.71450978
64	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.70230058
65	cotranslational protein targeting to membrane (GO:0006613)	2.69555820
66	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.69002540
67	organ induction (GO:0001759)	2.68885812
68	outer ear morphogenesis (GO:0042473)	2.68430040
69	GPI anchor metabolic process (GO:0006505)	2.67743190
70	positive regulation of fatty acid beta-oxidation (GO:0032000)	2.67289969
71	mitochondrion morphogenesis (GO:0070584)	2.67233976
72	protein targeting to ER (GO:0045047)	2.65977057
73	indole-containing compound catabolic process (GO:0042436)	2.65116766
74	indolalkylamine catabolic process (GO:0046218)	2.65116766
75	tryptophan catabolic process (GO:0006569)	2.65116766
76	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.64707564
77	serotonin metabolic process (GO:0042428)	2.62524674
78	pituitary gland development (GO:0021983)	2.61224941
79	spindle assembly involved in mitosis (GO:0090307)	2.57275533
80	negative regulation of acute inflammatory response (GO:0002674)	2.57162623
81	prostate gland growth (GO:0060736)	2.55661529
82	signal transduction involved in regulation of gene expression (GO:0023019)	2.54083098
83	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.52617630
84	regulation of action potential (GO:0098900)	2.51865900
85	positive regulation of metanephros development (GO:0072216)	2.51732274
86	lymphangiogenesis (GO:0001946)	2.51201679
87	developmental induction (GO:0031128)	2.50526420
88	cellular response to lithium ion (GO:0071285)	2.50006092
89	protein localization to endoplasmic reticulum (GO:0070972)	2.49874648
90	spinal cord development (GO:0021510)	2.49124645
91	base-excision repair, AP site formation (GO:0006285)	2.48392017
92	regulation of female receptivity (GO:0045924)	2.47996226
93	positive regulation of icosanoid secretion (GO:0032305)	2.47614522
94	positive regulation of glomerulus development (GO:0090193)	2.47465676
95	positive regulation of potassium ion transmembrane transport (GO:1901381)	2.47176579
96	negative regulation of DNA biosynthetic process (GO:2000279)	2.46118028
97	indole-containing compound metabolic process (GO:0042430)	2.45232904
98	dopamine transport (GO:0015872)	2.45056273
99	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.44452153
100	regulation of organ formation (GO:0003156)	2.43599101

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.85816145
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.48322730
3	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.92342405
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.78405353
5	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.74986340
6	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.48321403
7	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.28814616
8	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.27776064
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.26001216
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.18293765
11	GBX2_23144817_ChIP-Seq_PC3_Human	2.14822818
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.13564292
13	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.12851374
14	IRF1_19129219_ChIP-ChIP_H3396_Human	2.07702383
15	MYC_18940864_ChIP-ChIP_HL60_Human	2.04615549
16	EWS_26573619_Chip-Seq_HEK293_Human	1.96334481
17	FUS_26573619_Chip-Seq_HEK293_Human	1.94659584
18	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.93883113
19	IGF1R_20145208_ChIP-Seq_DFB_Human	1.92777777
20	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.85411106
21	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.84156881
22	RNF2_27304074_Chip-Seq_NSC_Mouse	1.78453281
23	VDR_22108803_ChIP-Seq_LS180_Human	1.78291383
24	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.74652207
25	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.72132851
26	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.72132851
27	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.69826397
28	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.66848308
29	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.66110216
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.65705593
31	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.63722317
32	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.62178605
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.61697837
34	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.60679391
35	REST_21632747_ChIP-Seq_MESCs_Mouse	1.59057296
36	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.57326665
37	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.55574572
38	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.55391183
39	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.53458804
40	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.47674600
41	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.44132763
42	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.44012475
43	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.42871706
44	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.42660600
45	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.42236661
46	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.40814391
47	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.40026201
48	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.39494296
49	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.37440011
50	P300_19829295_ChIP-Seq_ESCs_Human	1.37158253
51	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.35155892
52	ER_23166858_ChIP-Seq_MCF-7_Human	1.31947100
53	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30427015
54	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.29023940
55	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.26732087
56	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.26610878
57	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25352095
58	NCOR_22424771_ChIP-Seq_293T_Human	1.22859613
59	TP53_22573176_ChIP-Seq_HFKS_Human	1.21535138
60	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.20390655
61	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.20107837
62	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.18544087
63	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.15426128
64	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.15385980
65	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.15385980
66	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.14885122
67	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.12741100
68	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.10500667
69	SMAD4_21799915_ChIP-Seq_A2780_Human	1.08880353
70	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.07944464
71	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.07888037
72	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.06941602
73	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.05252232
74	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.05153070
75	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.04352770
76	BCAT_22108803_ChIP-Seq_LS180_Human	1.04329407
77	CBP_20019798_ChIP-Seq_JUKART_Human	1.03751993
78	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.03751993
79	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02934010
80	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.00846374
81	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.00653426
82	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.99939312
83	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.98583796
84	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.98408475
85	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.96994185
86	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.96444893
87	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.95873214
88	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.95702884
89	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.94747132
90	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.94395980
91	TCF4_23295773_ChIP-Seq_U87_Human	0.93671787
92	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.93350957
93	SOX2_19829295_ChIP-Seq_ESCs_Human	0.92169817
94	NANOG_19829295_ChIP-Seq_ESCs_Human	0.92169817
95	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.92076486
96	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.88228989
97	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.87793445
98	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.87438467
99	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	0.86755423
100	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.86384253

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	4.73526341
2	MP0002138_abnormal_hepatobiliary_system	3.86938971
3	MP0002160_abnormal_reproductive_system	3.26281320
4	MP0005646_abnormal_pituitary_gland	2.90672455
5	MP0000049_abnormal_middle_ear	2.69433779
6	MP0001485_abnormal_pinna_reflex	2.68641020
7	MP0002876_abnormal_thyroid_physiology	2.45998140
8	MP0005670_abnormal_white_adipose	2.45129624
9	MP0005389_reproductive_system_phenotype	2.43526724
10	MP0003195_calcinosis	2.38594697
11	MP0008877_abnormal_DNA_methylation	2.31004922
12	MP0009379_abnormal_foot_pigmentation	2.20860437
13	MP0000013_abnormal_adipose_tissue	2.19892786
14	MP0004142_abnormal_muscle_tone	2.16957633
15	MP0003646_muscle_fatigue	2.07709123
16	MP0002837_dystrophic_cardiac_calcinosis	2.00470150
17	MP0004145_abnormal_muscle_electrophysio	2.00152394
18	MP0004885_abnormal_endolymph	1.98074972
19	MP0000678_abnormal_parathyroid_gland	1.87860868
20	MP0000631_abnormal_neuroendocrine_gland	1.87575775
21	MP0003011_delayed_dark_adaptation	1.87356230
22	MP0002163_abnormal_gland_morphology	1.71040167
23	MP0008872_abnormal_physiological_respon	1.67030162
24	MP0002272_abnormal_nervous_system	1.50519576
25	MP0003567_abnormal_fetal_cardiomyocyte	1.48102271
26	MP0003315_abnormal_perineum_morphology	1.47476917
27	MP0001919_abnormal_reproductive_system	1.40165319
28	MP0001529_abnormal_vocalization	1.37767314
29	MP0005551_abnormal_eye_electrophysiolog	1.36905649
30	MP0005084_abnormal_gallbladder_morpholo	1.35472063
31	MP0003938_abnormal_ear_development	1.35307574
32	MP0009745_abnormal_behavioral_response	1.33288980
33	MP0009053_abnormal_anal_canal	1.32687867
34	MP0003942_abnormal_urinary_system	1.31298591
35	MP0003936_abnormal_reproductive_system	1.29996758
36	MP0003787_abnormal_imprinting	1.29664884
37	MP0001440_abnormal_grooming_behavior	1.29252600
38	MP0001968_abnormal_touch/_nociception	1.24255592
39	MP0009384_cardiac_valve_regurgitation	1.22836283
40	MP0002102_abnormal_ear_morphology	1.22036637
41	MP0009250_abnormal_appendicular_skeleto	1.21037511
42	MP0004130_abnormal_muscle_cell	1.19373457
43	MP0002277_abnormal_respiratory_mucosa	1.17892112
44	MP0001963_abnormal_hearing_physiology	1.15148739
45	MP0004742_abnormal_vestibular_system	1.14499706
46	MP0000516_abnormal_urinary_system	1.13051909
47	MP0005367_renal/urinary_system_phenotyp	1.13051909
48	MP0002928_abnormal_bile_duct	1.11645994
49	MP0003937_abnormal_limbs/digits/tail_de	1.11538934
50	MP0008789_abnormal_olfactory_epithelium	1.07364774
51	MP0003123_paternal_imprinting	1.06888591
52	MP0003119_abnormal_digestive_system	1.05736309
53	MP0004133_heterotaxia	1.05602805
54	MP0003880_abnormal_central_pattern	1.05466491
55	MP0006072_abnormal_retinal_apoptosis	1.05109629
56	MP0002734_abnormal_mechanical_nocicepti	1.02741638
57	MP0003121_genomic_imprinting	1.02254682
58	MP0002653_abnormal_ependyma_morphology	1.00122837
59	MP0002139_abnormal_hepatobiliary_system	0.99971449
60	MP0000026_abnormal_inner_ear	0.99875036
61	MP0009046_muscle_twitch	0.99069108
62	MP0002249_abnormal_larynx_morphology	0.98656309
63	MP0002735_abnormal_chemical_nociception	0.97385937
64	MP0001661_extended_life_span	0.97224574
65	MP0006276_abnormal_autonomic_nervous	0.95436634
66	MP0003890_abnormal_embryonic-extraembry	0.93255660
67	MP0002210_abnormal_sex_determination	0.93059042
68	MP0005645_abnormal_hypothalamus_physiol	0.91707356
69	MP0003635_abnormal_synaptic_transmissio	0.91414690
70	MP0001188_hyperpigmentation	0.91149594
71	MP0003122_maternal_imprinting	0.91058245
72	MP0001970_abnormal_pain_threshold	0.90851091
73	MP0003638_abnormal_response/metabolism_	0.89377520
74	MP0001348_abnormal_lacrimal_gland	0.88962835
75	MP0005379_endocrine/exocrine_gland_phen	0.88822287
76	MP0005195_abnormal_posterior_eye	0.88561102
77	MP0001145_abnormal_male_reproductive	0.88345912
78	MP0000537_abnormal_urethra_morphology	0.88073477
79	MP0002064_seizures	0.87948819
80	MP0000613_abnormal_salivary_gland	0.87822900
81	MP0002184_abnormal_innervation	0.87332872
82	MP0005423_abnormal_somatic_nervous	0.85789164
83	MP0002733_abnormal_thermal_nociception	0.85442911
84	MP0003879_abnormal_hair_cell	0.84787285
85	MP0002557_abnormal_social/conspecific_i	0.84671795
86	MP0002938_white_spotting	0.82646016
87	MP0000653_abnormal_sex_gland	0.80728926
88	MP0008875_abnormal_xenobiotic_pharmacok	0.80437198
89	MP0003724_increased_susceptibility_to	0.78257236
90	MP0002752_abnormal_somatic_nervous	0.77712716
91	MP0000778_abnormal_nervous_system	0.77695428
92	MP0005360_urolithiasis	0.75398686
93	MP0001293_anophthalmia	0.72064517
94	MP0002095_abnormal_skin_pigmentation	0.71909343
95	MP0001764_abnormal_homeostasis	0.71563748
96	MP0008995_early_reproductive_senescence	0.70834247
97	MP0002638_abnormal_pupillary_reflex	0.70683070
98	MP0002177_abnormal_outer_ear	0.69461695
99	MP0005174_abnormal_tail_pigmentation	0.69187532
100	MP0005394_taste/olfaction_phenotype	0.69109789

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	4.31714326
2	Short 1st metacarpal (HP:0010034)	4.31714326
3	Stenosis of the external auditory canal (HP:0000402)	4.25498801
4	Pendular nystagmus (HP:0012043)	4.20425970
5	Absent rod-and cone-mediated responses on ERG (HP:0007688)	4.16622685
6	Abnormality of the 1st metacarpal (HP:0010009)	3.80141232
7	Abnormal rod and cone electroretinograms (HP:0008323)	3.54223435
8	Acute necrotizing encephalopathy (HP:0006965)	3.44100136
9	True hermaphroditism (HP:0010459)	3.26788583
10	Abolished electroretinogram (ERG) (HP:0000550)	3.24832028
11	Abnormal mitochondria in muscle tissue (HP:0008316)	3.01278708
12	Hypothermia (HP:0002045)	3.00300093
13	Decreased central vision (HP:0007663)	3.00083479
14	3-Methylglutaconic aciduria (HP:0003535)	2.96647024
15	Progressive macrocephaly (HP:0004481)	2.96353297
16	Ectopic kidney (HP:0000086)	2.93251101
17	Chronic otitis media (HP:0000389)	2.89226720
18	Pancreatic fibrosis (HP:0100732)	2.88774463
19	Congenital sensorineural hearing impairment (HP:0008527)	2.87522229
20	Absent thumb (HP:0009777)	2.86752271
21	Short hallux (HP:0010109)	2.86193555
22	Short phalanx of the thumb (HP:0009660)	2.84384342
23	Abnormality of the proximal phalanges of the hand (HP:0009834)	2.84330294
24	Acute encephalopathy (HP:0006846)	2.83719632
25	Carpal bone hypoplasia (HP:0001498)	2.79501645
26	Chronic sinusitis (HP:0011109)	2.76207609
27	Increased corneal curvature (HP:0100692)	2.73571523
28	Keratoconus (HP:0000563)	2.73571523
29	Aplasia/Hypoplasia of the hallux (HP:0008362)	2.72306127
30	Mitochondrial inheritance (HP:0001427)	2.68777946
31	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.67750074
32	Abnormality of the nasal septum (HP:0000419)	2.63775303
33	Pancreatic cysts (HP:0001737)	2.61787078
34	Abnormality of the middle phalanges of the toes (HP:0010183)	2.57293687
35	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.55061036
36	Abnormality of the renal collecting system (HP:0004742)	2.51951079
37	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.50436914
38	Severe visual impairment (HP:0001141)	2.49815127
39	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.49212351
40	Abnormality of alanine metabolism (HP:0010916)	2.49212351
41	Hyperalaninemia (HP:0003348)	2.49212351
42	Abnormality of cells of the erythroid lineage (HP:0012130)	2.47357812
43	Increased CSF lactate (HP:0002490)	2.46658167
44	Humeroradial synostosis (HP:0003041)	2.40636856
45	Synostosis involving the elbow (HP:0003938)	2.40636856
46	Genetic anticipation (HP:0003743)	2.34676793
47	Porencephaly (HP:0002132)	2.32303288
48	Abnormal number of erythroid precursors (HP:0012131)	2.32156690
49	Progressive cerebellar ataxia (HP:0002073)	2.31911408
50	Methylmalonic acidemia (HP:0002912)	2.31858572
51	Reticulocytopenia (HP:0001896)	2.30421234
52	Abnormality of DNA repair (HP:0003254)	2.30403181
53	Congenital, generalized hypertrichosis (HP:0004540)	2.29610412
54	Symphalangism affecting the phalanges of the hand (HP:0009773)	2.24722155
55	Bony spicule pigmentary retinopathy (HP:0007737)	2.24145169
56	Agitation (HP:0000713)	2.22403483
57	Synostosis of carpal bones (HP:0005048)	2.21432539
58	Nephronophthisis (HP:0000090)	2.20756200
59	Maternal diabetes (HP:0009800)	2.16452185
60	Male pseudohermaphroditism (HP:0000037)	2.12144624
61	Short tibia (HP:0005736)	2.09234300
62	Horseshoe kidney (HP:0000085)	2.09035801
63	Abnormality of midbrain morphology (HP:0002418)	2.08390744
64	Molar tooth sign on MRI (HP:0002419)	2.08390744
65	Morphological abnormality of the middle ear (HP:0008609)	2.08308974
66	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.07921523
67	Osteomalacia (HP:0002749)	2.07247951
68	Fused cervical vertebrae (HP:0002949)	2.06183108
69	Type II lissencephaly (HP:0007260)	2.04729227
70	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	2.03073342
71	Attenuation of retinal blood vessels (HP:0007843)	2.01428394
72	Medial flaring of the eyebrow (HP:0010747)	1.99718059
73	Congenital stationary night blindness (HP:0007642)	1.98842021
74	Cerebral edema (HP:0002181)	1.98370733
75	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.98221256
76	Septo-optic dysplasia (HP:0100842)	1.97459607
77	Methylmalonic aciduria (HP:0012120)	1.96549353
78	Hepatocellular necrosis (HP:0001404)	1.95192374
79	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	1.94584924
80	Oligomenorrhea (HP:0000876)	1.93961002
81	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.91719885
82	Tachypnea (HP:0002789)	1.91588599
83	Abnormality of cochlea (HP:0000375)	1.90515666
84	Hypoplasia of the uterus (HP:0000013)	1.89102138
85	Short humerus (HP:0005792)	1.87428067
86	Hyperuricemia (HP:0002149)	1.87353198
87	Increased purine levels (HP:0004368)	1.87353198
88	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.85857612
89	Asplenia (HP:0001746)	1.85126955
90	Chorioretinal atrophy (HP:0000533)	1.84584926
91	Decreased subcutaneous fat (HP:0001002)	1.84302555
92	Hypoplasia of the ulna (HP:0003022)	1.81420701
93	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.80766879
94	Absent/shortened dynein arms (HP:0200106)	1.80766879
95	Abnormal pancreas size (HP:0012094)	1.80116934
96	Erythroderma (HP:0001019)	1.79906266
97	Sclerocornea (HP:0000647)	1.79122469
98	Decreased circulating renin level (HP:0003351)	1.78587646
99	Aplasia/hypoplasia of the humerus (HP:0006507)	1.78184093
100	Confusion (HP:0001289)	1.77512330

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	GRK1	4.02876681
2	TLK1	3.73187196
3	MAP3K13	3.56068248
4	MAP3K9	3.28803370
5	FRK	2.88178228
6	ADRBK2	2.74993455
7	TAOK3	2.61161168
8	STK16	2.29283971
9	BMPR1B	2.27261865
10	PINK1	2.20847080
11	TXK	2.08433510
12	NUAK1	1.92874660
13	CDC7	1.89873110
14	WNK4	1.86030059
15	TAF1	1.85576536
16	ZAK	1.81792443
17	PDK2	1.75769967
18	MUSK	1.70998493
19	TIE1	1.66312345
20	INSRR	1.60193261
21	DYRK2	1.54972674
22	CDK19	1.47673108
23	VRK2	1.45251586
24	MAP4K2	1.43238297
25	PRKD2	1.38035749
26	BRAF	1.34316451
27	CDK9	1.32493541
28	STK39	1.30087730
29	NME1	1.22940088
30	VRK1	1.22231487
31	PNCK	1.13243762
32	PRKCG	1.13058732
33	ARAF	1.10805668
34	ACVR1B	1.02902800
35	MAPK13	0.97341916
36	PLK4	0.93408324
37	NTRK2	0.91967992
38	IKBKB	0.91484251
39	AURKA	0.89984029
40	PLK2	0.82942480
41	SGK494	0.79579275
42	SGK223	0.79579275
43	SGK2	0.78480566
44	MAP2K1	0.75846191
45	WNK3	0.75040396
46	CSNK1G1	0.74930545
47	TNIK	0.72876868
48	PAK3	0.71477296
49	BCKDK	0.71360354
50	MAP2K7	0.71163735
51	PRKCE	0.68659194
52	SGK1	0.67891884
53	OXSR1	0.65055522
54	CSNK1G2	0.64498498
55	PHKG2	0.64160003
56	PHKG1	0.64160003
57	RPS6KA6	0.62160733
58	PLK1	0.60686051
59	PRKCH	0.60518584
60	DAPK2	0.60295370
61	CAMK1	0.60228789
62	PRKACA	0.58265524
63	PRKCQ	0.56929565
64	BMPR2	0.56604007
65	CAMK1G	0.56388836
66	CSNK1A1	0.56315659
67	ADRBK1	0.55524656
68	CSNK1G3	0.54623335
69	MARK1	0.53990125
70	CASK	0.53733117
71	CAMKK2	0.53721799
72	FGFR2	0.52541734
73	RPS6KA5	0.52209021
74	ATR	0.51822352
75	MINK1	0.51806079
76	CSNK2A1	0.49217242
77	GRK7	0.48720461
78	MAP3K4	0.46037487
79	ABL2	0.44453153
80	TEC	0.44063756
81	CAMK2A	0.44024852
82	FLT3	0.43270739
83	RPS6KL1	0.41830805
84	RPS6KC1	0.41830805
85	PRKCI	0.41492105
86	STK11	0.40395436
87	AKT3	0.40006935
88	RPS6KB1	0.39779508
89	DYRK3	0.38665999
90	TYRO3	0.38565535
91	GRK5	0.36760498
92	MAP2K2	0.36426800
93	AURKB	0.35525138
94	DAPK3	0.34881498
95	OBSCN	0.34797369
96	CSNK1A1L	0.34665067
97	PRKCA	0.34535655
98	NLK	0.33057067
99	PRKCZ	0.32814095
100	CSNK2A2	0.31937221

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	3.76347773
2	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	3.29106032
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.25800232
4	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.02256205
5	Parkinsons disease_Homo sapiens_hsa05012	2.59865676
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.35376006
7	Nicotine addiction_Homo sapiens_hsa05033	2.17570966
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.10714980
9	Phototransduction_Homo sapiens_hsa04744	2.06275654
10	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.95756532
11	Alzheimers disease_Homo sapiens_hsa05010	1.91978621
12	Sulfur metabolism_Homo sapiens_hsa00920	1.85074672
13	Huntingtons disease_Homo sapiens_hsa05016	1.84352276
14	Cardiac muscle contraction_Homo sapiens_hsa04260	1.84349372
15	RNA polymerase_Homo sapiens_hsa03020	1.79809560
16	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.75363038
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.69812028
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.67761157
19	Homologous recombination_Homo sapiens_hsa03440	1.66361876
20	Protein export_Homo sapiens_hsa03060	1.57293057
21	Chemical carcinogenesis_Homo sapiens_hsa05204	1.44317767
22	Sulfur relay system_Homo sapiens_hsa04122	1.43187394
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.42613784
24	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.41998393
25	Asthma_Homo sapiens_hsa05310	1.39248701
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.37076976
27	Morphine addiction_Homo sapiens_hsa05032	1.34136086
28	Basal transcription factors_Homo sapiens_hsa03022	1.32954937
29	Retinol metabolism_Homo sapiens_hsa00830	1.32261240
30	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.27581403
31	RNA degradation_Homo sapiens_hsa03018	1.26609104
32	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.23860593
33	Taste transduction_Homo sapiens_hsa04742	1.13625447
34	Ether lipid metabolism_Homo sapiens_hsa00565	1.08349488
35	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07115536
36	Insulin secretion_Homo sapiens_hsa04911	1.05332477
37	Selenocompound metabolism_Homo sapiens_hsa00450	1.04153754
38	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.03278542
39	Olfactory transduction_Homo sapiens_hsa04740	1.03224148
40	Primary immunodeficiency_Homo sapiens_hsa05340	1.00290700
41	Fanconi anemia pathway_Homo sapiens_hsa03460	0.99464911
42	Melanoma_Homo sapiens_hsa05218	0.97685765
43	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.97085964
44	Collecting duct acid secretion_Homo sapiens_hsa04966	0.96841347
45	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.95198776
46	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.93710246
47	Caffeine metabolism_Homo sapiens_hsa00232	0.92983179
48	Fat digestion and absorption_Homo sapiens_hsa04975	0.91258399
49	GABAergic synapse_Homo sapiens_hsa04727	0.88867110
50	Basal cell carcinoma_Homo sapiens_hsa05217	0.88330487
51	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.87358821
52	Nitrogen metabolism_Homo sapiens_hsa00910	0.86849843
53	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.85459847
54	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.85095165
55	Butanoate metabolism_Homo sapiens_hsa00650	0.83643275
56	Peroxisome_Homo sapiens_hsa04146	0.81113126
57	Glutamatergic synapse_Homo sapiens_hsa04724	0.77227906
58	Pyrimidine metabolism_Homo sapiens_hsa00240	0.76637998
59	Serotonergic synapse_Homo sapiens_hsa04726	0.76615555
60	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.75959880
61	Fatty acid degradation_Homo sapiens_hsa00071	0.75312993
62	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.70861011
63	Proteasome_Homo sapiens_hsa03050	0.69915624
64	Type I diabetes mellitus_Homo sapiens_hsa04940	0.69441251
65	Renin-angiotensin system_Homo sapiens_hsa04614	0.69108689
66	beta-Alanine metabolism_Homo sapiens_hsa00410	0.68716082
67	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.68636635
68	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.68514064
69	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.68459614
70	Circadian entrainment_Homo sapiens_hsa04713	0.65422471
71	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.63712712
72	Purine metabolism_Homo sapiens_hsa00230	0.61745115
73	Pyruvate metabolism_Homo sapiens_hsa00620	0.61702004
74	Metabolic pathways_Homo sapiens_hsa01100	0.60245025
75	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.59797075
76	Allograft rejection_Homo sapiens_hsa05330	0.59325491
77	Folate biosynthesis_Homo sapiens_hsa00790	0.59318061
78	DNA replication_Homo sapiens_hsa03030	0.57428890
79	Cholinergic synapse_Homo sapiens_hsa04725	0.57098402
80	Nucleotide excision repair_Homo sapiens_hsa03420	0.57019041
81	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.56356894
82	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.54860055
83	Base excision repair_Homo sapiens_hsa03410	0.54673828
84	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52967503
85	Steroid biosynthesis_Homo sapiens_hsa00100	0.50645509
86	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.49383629
87	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.45079590
88	One carbon pool by folate_Homo sapiens_hsa00670	0.44406533
89	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.43515256
90	Cocaine addiction_Homo sapiens_hsa05030	0.43036524
91	Calcium signaling pathway_Homo sapiens_hsa04020	0.40520481
92	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.40496354
93	Type II diabetes mellitus_Homo sapiens_hsa04930	0.39644160
94	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.38646384
95	Glycerolipid metabolism_Homo sapiens_hsa00561	0.37283930
96	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.36764863
97	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.36598500
98	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.36312403
99	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.36064390
100	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.35108833

EEF1A1P31

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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