ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of prostaglandin secretion (GO:0032308)	5.46117174
2	protein-cofactor linkage (GO:0018065)	5.20273085
3	positive regulation of heat generation (GO:0031652)	5.13520360
4	behavioral response to nicotine (GO:0035095)	5.09521101
5	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.79090925
6	DNA deamination (GO:0045006)	4.53046817
7	viral transcription (GO:0019083)	4.43793435
8	regulation of prostaglandin secretion (GO:0032306)	4.41098768
9	regulation of fever generation (GO:0031620)	4.38615915
10	translational termination (GO:0006415)	4.36054309
11	positive regulation of fatty acid transport (GO:2000193)	4.28414745
12	positive regulation of icosanoid secretion (GO:0032305)	4.14690839
13	interleukin-1-mediated signaling pathway (GO:0070498)	4.07550885
14	regulation of heat generation (GO:0031650)	4.04968575
15	negative regulation of activin receptor signaling pathway (GO:0032926)	4.03581008
16	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	3.96261487
17	maturation of 5.8S rRNA (GO:0000460)	3.86816444
18	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.84847492
19	collecting duct development (GO:0072044)	3.81009547
20	regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)	3.69017732
21	serine family amino acid catabolic process (GO:0009071)	3.67669000
22	rhodopsin mediated signaling pathway (GO:0016056)	3.62757511
23	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.60967014
24	negative regulation of macrophage differentiation (GO:0045650)	3.58809077
25	translational elongation (GO:0006414)	3.56032232
26	cotranslational protein targeting to membrane (GO:0006613)	3.52802349
27	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.48242346
28	regulation of mitotic spindle checkpoint (GO:1903504)	3.48242346
29	protein targeting to ER (GO:0045047)	3.47138457
30	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.44680337
31	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.44680337
32	NADH dehydrogenase complex assembly (GO:0010257)	3.44680337
33	fucose catabolic process (GO:0019317)	3.44163959
34	L-fucose metabolic process (GO:0042354)	3.44163959
35	L-fucose catabolic process (GO:0042355)	3.44163959
36	ribosomal large subunit biogenesis (GO:0042273)	3.42848439
37	viral mRNA export from host cell nucleus (GO:0046784)	3.42116553
38	water-soluble vitamin biosynthetic process (GO:0042364)	3.38672035
39	protein polyglutamylation (GO:0018095)	3.36527887
40	mechanoreceptor differentiation (GO:0042490)	3.34481516
41	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.32699710
42	establishment of protein localization to endoplasmic reticulum (GO:0072599)	3.31197876
43	cellular protein complex disassembly (GO:0043624)	3.28920967
44	innervation (GO:0060384)	3.21576376
45	pyrimidine nucleobase catabolic process (GO:0006208)	3.20974978
46	kidney morphogenesis (GO:0060993)	3.20307259
47	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.18630064
48	protein localization to endoplasmic reticulum (GO:0070972)	3.15372227
49	phosphatidylserine acyl-chain remodeling (GO:0036150)	3.13048979
50	sulfation (GO:0051923)	3.09922811
51	protein complex biogenesis (GO:0070271)	3.08179210
52	platelet dense granule organization (GO:0060155)	3.07876720
53	viral life cycle (GO:0019058)	3.06553307
54	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.05773675
55	maturation of SSU-rRNA (GO:0030490)	3.02046503
56	central nervous system myelination (GO:0022010)	3.01099763
57	axon ensheathment in central nervous system (GO:0032291)	3.01099763
58	cytidine deamination (GO:0009972)	3.00839809
59	cytidine metabolic process (GO:0046087)	3.00839809
60	cytidine catabolic process (GO:0006216)	3.00839809
61	positive regulation of organic acid transport (GO:0032892)	2.99517426
62	termination of RNA polymerase III transcription (GO:0006386)	2.98397052
63	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.98397052
64	lysine catabolic process (GO:0006554)	2.97998139
65	lysine metabolic process (GO:0006553)	2.97998139
66	rRNA catabolic process (GO:0016075)	2.97386311
67	translational initiation (GO:0006413)	2.97325007
68	protein K11-linked deubiquitination (GO:0035871)	2.96780311
69	replication fork processing (GO:0031297)	2.95453387
70	ribosomal small subunit assembly (GO:0000028)	2.94085361
71	pattern specification involved in kidney development (GO:0061004)	2.91528276
72	limb development (GO:0060173)	2.91350391
73	appendage development (GO:0048736)	2.91350391
74	bone resorption (GO:0045453)	2.90527851
75	mitochondrial respiratory chain complex assembly (GO:0033108)	2.88634639
76	regulation of icosanoid secretion (GO:0032303)	2.85295462
77	positive regulation of T cell cytokine production (GO:0002726)	2.84904858
78	viral protein processing (GO:0019082)	2.84422534
79	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.84410043
80	mitotic cell cycle arrest (GO:0071850)	2.81345700
81	retina layer formation (GO:0010842)	2.79374996
82	exocrine pancreas development (GO:0031017)	2.78359739
83	aspartate family amino acid catabolic process (GO:0009068)	2.76820998
84	nonmotile primary cilium assembly (GO:0035058)	2.75482595
85	cerebral cortex radially oriented cell migration (GO:0021799)	2.75423251
86	protein complex disassembly (GO:0043241)	2.75177649
87	nucleobase catabolic process (GO:0046113)	2.73239044
88	regulation of interleukin-12 biosynthetic process (GO:0045075)	2.72832659
89	alanine transport (GO:0032328)	2.68870079
90	protein localization to cilium (GO:0061512)	2.66398588
91	positive regulation of osteoclast differentiation (GO:0045672)	2.66187494
92	macromolecular complex disassembly (GO:0032984)	2.64334458
93	cell migration in hindbrain (GO:0021535)	2.63530378
94	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.60202462
95	glycerophospholipid catabolic process (GO:0046475)	2.59873817
96	response to pheromone (GO:0019236)	2.59083853
97	male meiosis (GO:0007140)	2.57924557
98	basic amino acid transport (GO:0015802)	2.57816501
99	glycine metabolic process (GO:0006544)	2.55095816
100	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.55009437

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.38007228
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.80120290
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.63874165
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.48056534
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.08224992
6	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.50364945
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.34742228
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.24329986
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.16534531
10	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.08705246
11	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.02646601
12	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.02106453
13	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.99907623
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.98339705
15	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.97404061
16	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.97404061
17	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.97404061
18	VDR_22108803_ChIP-Seq_LS180_Human	1.94261921
19	EWS_26573619_Chip-Seq_HEK293_Human	1.88269179
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.88065561
21	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.87710760
22	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.82599593
23	GBX2_23144817_ChIP-Seq_PC3_Human	1.80925329
24	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.74339531
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.65877777
26	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.64446514
27	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.60774933
28	P300_19829295_ChIP-Seq_ESCs_Human	1.57965588
29	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.56838935
30	REST_21632747_ChIP-Seq_MESCs_Mouse	1.49086098
31	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.48347703
32	FUS_26573619_Chip-Seq_HEK293_Human	1.45570922
33	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.44756607
34	AR_21572438_ChIP-Seq_LNCaP_Human	1.42347245
35	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.32978114
36	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.32746299
37	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.30236947
38	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.29356596
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.27288367
40	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.26687899
41	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.25119037
42	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.24441877
43	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.24382393
44	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.24141943
45	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.24141943
46	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.23592295
47	CBP_20019798_ChIP-Seq_JUKART_Human	1.22494924
48	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.22494924
49	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.22416252
50	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.21557073
51	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.21106299
52	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.20572041
53	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16242594
54	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.15153734
55	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.13269418
56	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.11509036
57	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.11170055
58	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.09936539
59	TCF4_22108803_ChIP-Seq_LS180_Human	1.09399422
60	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.08864843
61	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08611229
62	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.07839474
63	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.07277400
64	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.07277400
65	TP53_22573176_ChIP-Seq_HFKS_Human	1.06561489
66	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.06242506
67	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.06219261
68	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.06064133
69	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.05479981
70	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.04444995
71	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.04251417
72	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.04061353
73	P53_22387025_ChIP-Seq_ESCs_Mouse	1.03892626
74	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.03019326
75	BCAT_22108803_ChIP-Seq_LS180_Human	1.01975872
76	IRF1_19129219_ChIP-ChIP_H3396_Human	1.01148046
77	ELK1_19687146_ChIP-ChIP_HELA_Human	1.01010122
78	P300_18555785_Chip-Seq_ESCs_Mouse	1.00953384
79	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.00918009
80	SOX2_19829295_ChIP-Seq_ESCs_Human	1.00739269
81	NANOG_19829295_ChIP-Seq_ESCs_Human	1.00739269
82	VDR_23849224_ChIP-Seq_CD4+_Human	1.00677598
83	NANOG_20526341_ChIP-Seq_ESCs_Human	1.00560493
84	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.99764488
85	RUNX2_22187159_ChIP-Seq_PCA_Human	0.99165879
86	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.98909803
87	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.98309890
88	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.97736713
89	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.97714449
90	TAF2_19829295_ChIP-Seq_ESCs_Human	0.97684567
91	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.97679718
92	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.96503545
93	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.96443985
94	TP53_16413492_ChIP-PET_HCT116_Human	0.96121379
95	NCOR_22424771_ChIP-Seq_293T_Human	0.95904282
96	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95565562
97	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.95354765
98	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.94875293
99	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.94619505
100	STAT3_23295773_ChIP-Seq_U87_Human	0.94072196

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	4.53611972
2	MP0006292_abnormal_olfactory_placode	3.68249172
3	MP0002102_abnormal_ear_morphology	3.10470446
4	MP0009379_abnormal_foot_pigmentation	3.07628237
5	MP0000569_abnormal_digit_pigmentation	3.01536750
6	MP0008877_abnormal_DNA_methylation	2.94552356
7	MP0004742_abnormal_vestibular_system	2.69725583
8	MP0002638_abnormal_pupillary_reflex	2.32537829
9	MP0002653_abnormal_ependyma_morphology	2.28606220
10	MP0003011_delayed_dark_adaptation	2.22892373
11	MP0002095_abnormal_skin_pigmentation	2.18771243
12	MP0002837_dystrophic_cardiac_calcinosis	2.13094769
13	MP0004133_heterotaxia	2.12039921
14	MP0005377_hearing/vestibular/ear_phenot	2.06516289
15	MP0003878_abnormal_ear_physiology	2.06516289
16	MP0000685_abnormal_immune_system	2.03565829
17	MP0005084_abnormal_gallbladder_morpholo	1.99639225
18	MP0004142_abnormal_muscle_tone	1.89291009
19	MP0005551_abnormal_eye_electrophysiolog	1.80625928
20	MP0006072_abnormal_retinal_apoptosis	1.80255288
21	MP0001293_anophthalmia	1.79880960
22	MP0000778_abnormal_nervous_system	1.79453776
23	MP0002938_white_spotting	1.73624974
24	MP0000631_abnormal_neuroendocrine_gland	1.63464743
25	MP0002138_abnormal_hepatobiliary_system	1.59043247
26	MP0000372_irregular_coat_pigmentation	1.58163947
27	MP0009046_muscle_twitch	1.55688329
28	MP0001968_abnormal_touch/_nociception	1.55434270
29	MP0004885_abnormal_endolymph	1.54777614
30	MP0003195_calcinosis	1.51550189
31	MP0002736_abnormal_nociception_after	1.48728286
32	MP0005423_abnormal_somatic_nervous	1.46498470
33	MP0008875_abnormal_xenobiotic_pharmacok	1.40223702
34	MP0005174_abnormal_tail_pigmentation	1.37213599
35	MP0002272_abnormal_nervous_system	1.37000296
36	MP0008789_abnormal_olfactory_epithelium	1.36664924
37	MP0008872_abnormal_physiological_respon	1.33354213
38	MP0001501_abnormal_sleep_pattern	1.31425834
39	MP0003787_abnormal_imprinting	1.30585311
40	MP0000015_abnormal_ear_pigmentation	1.29725325
41	MP0002557_abnormal_social/conspecific_i	1.25655957
42	MP0003567_abnormal_fetal_cardiomyocyte	1.22949020
43	MP0001485_abnormal_pinna_reflex	1.22266653
44	MP0000049_abnormal_middle_ear	1.21449045
45	MP0005220_abnormal_exocrine_pancreas	1.20128440
46	MP0001529_abnormal_vocalization	1.18601936
47	MP0001986_abnormal_taste_sensitivity	1.15995900
48	MP0002163_abnormal_gland_morphology	1.15495764
49	MP0002064_seizures	1.14583712
50	MP0009745_abnormal_behavioral_response	1.13869334
51	MP0004782_abnormal_surfactant_physiolog	1.12373713
52	MP0000026_abnormal_inner_ear	1.11405373
53	MP0001486_abnormal_startle_reflex	1.09727912
54	MP0004147_increased_porphyrin_level	1.09331596
55	MP0005253_abnormal_eye_physiology	1.08946988
56	MP0002067_abnormal_sensory_capabilities	1.08672629
57	MP0003879_abnormal_hair_cell	1.04471893
58	MP0001286_abnormal_eye_development	1.03913836
59	MP0005195_abnormal_posterior_eye	1.03906115
60	MP0000955_abnormal_spinal_cord	1.02438665
61	MP0002734_abnormal_mechanical_nocicepti	1.01952356
62	MP0002277_abnormal_respiratory_mucosa	1.01841323
63	MP0002184_abnormal_innervation	1.01416955
64	MP0003119_abnormal_digestive_system	0.97861107
65	MP0003718_maternal_effect	0.97461237
66	MP0001970_abnormal_pain_threshold	0.96093363
67	MP0005645_abnormal_hypothalamus_physiol	0.94879339
68	MP0003283_abnormal_digestive_organ	0.94806542
69	MP0009250_abnormal_appendicular_skeleto	0.94366959
70	MP0005499_abnormal_olfactory_system	0.92421651
71	MP0005394_taste/olfaction_phenotype	0.92421651
72	MP0003186_abnormal_redox_activity	0.91917458
73	MP0001188_hyperpigmentation	0.91768692
74	MP0002733_abnormal_thermal_nociception	0.91367905
75	MP0001881_abnormal_mammary_gland	0.89789747
76	MP0002063_abnormal_learning/memory/cond	0.86639526
77	MP0002752_abnormal_somatic_nervous	0.85510281
78	MP0003635_abnormal_synaptic_transmissio	0.84171558
79	MP0003880_abnormal_central_pattern	0.83121366
80	MP0005083_abnormal_biliary_tract	0.82520311
81	MP0003646_muscle_fatigue	0.82335196
82	MP0003942_abnormal_urinary_system	0.82218507
83	MP0003937_abnormal_limbs/digits/tail_de	0.82035825
84	MP0006276_abnormal_autonomic_nervous	0.80891841
85	MP0005075_abnormal_melanosome_morpholog	0.80677401
86	MP0004381_abnormal_hair_follicle	0.80407479
87	MP0005379_endocrine/exocrine_gland_phen	0.79443462
88	MP0002735_abnormal_chemical_nociception	0.76953253
89	MP0000230_abnormal_systemic_arterial	0.76796431
90	MP0000647_abnormal_sebaceous_gland	0.75366672
91	MP0004215_abnormal_myocardial_fiber	0.75001678
92	MP0009053_abnormal_anal_canal	0.73107953
93	MP0000427_abnormal_hair_cycle	0.71621696
94	MP0002572_abnormal_emotion/affect_behav	0.69531354
95	MP0005391_vision/eye_phenotype	0.68914572
96	MP0002405_respiratory_system_inflammati	0.67570540
97	MP0004924_abnormal_behavior	0.67130121
98	MP0005386_behavior/neurological_phenoty	0.67130121
99	MP0001963_abnormal_hearing_physiology	0.66754710
100	MP0003724_increased_susceptibility_to	0.66041551

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.90282100
2	Abnormality of midbrain morphology (HP:0002418)	4.90282100
3	Chronic hepatic failure (HP:0100626)	4.86900173
4	Pancreatic fibrosis (HP:0100732)	4.36066050
5	Pancreatic cysts (HP:0001737)	4.15485113
6	Type II lissencephaly (HP:0007260)	3.93784270
7	Abnormality of alanine metabolism (HP:0010916)	3.90788385
8	Hyperalaninemia (HP:0003348)	3.90788385
9	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.90788385
10	Nephronophthisis (HP:0000090)	3.79756665
11	Abnormality of cells of the erythroid lineage (HP:0012130)	3.73532312
12	Cystic liver disease (HP:0006706)	3.39137587
13	Abnormality of the renal medulla (HP:0100957)	3.38044428
14	True hermaphroditism (HP:0010459)	3.36894376
15	Increased density of long bones (HP:0006392)	3.09225635
16	Cerebellar dysplasia (HP:0007033)	3.06037761
17	Abnormal number of erythroid precursors (HP:0012131)	3.04500077
18	Premature loss of primary teeth (HP:0006323)	3.00825152
19	Persistence of primary teeth (HP:0006335)	2.96590012
20	Retinal dysplasia (HP:0007973)	2.95337767
21	Ulnar claw (HP:0001178)	2.90423275
22	Abnormality of the labia minora (HP:0012880)	2.87307296
23	Attenuation of retinal blood vessels (HP:0007843)	2.84226225
24	Optic nerve hypoplasia (HP:0000609)	2.75846986
25	Abnormality of the pons (HP:0007361)	2.71170312
26	Rhinitis (HP:0012384)	2.70370431
27	Sclerocornea (HP:0000647)	2.69202459
28	Abnormal biliary tract physiology (HP:0012439)	2.68585122
29	Bile duct proliferation (HP:0001408)	2.68585122
30	Maternal diabetes (HP:0009800)	2.65869027
31	Rib fusion (HP:0000902)	2.63050220
32	Reticulocytopenia (HP:0001896)	2.62809502
33	Pendular nystagmus (HP:0012043)	2.51332142
34	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.46665838
35	Pallor (HP:0000980)	2.36485973
36	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.34405382
37	Disproportionate short-trunk short stature (HP:0003521)	2.33632273
38	Male pseudohermaphroditism (HP:0000037)	2.32855184
39	Type I diabetes mellitus (HP:0100651)	2.32246781
40	Anencephaly (HP:0002323)	2.29917955
41	Depressed nasal ridge (HP:0000457)	2.28302372
42	Keratoconus (HP:0000563)	2.27726834
43	Increased corneal curvature (HP:0100692)	2.27726834
44	Lissencephaly (HP:0001339)	2.24629701
45	Abnormal hemoglobin (HP:0011902)	2.22304538
46	Acute necrotizing encephalopathy (HP:0006965)	2.22095638
47	Parakeratosis (HP:0001036)	2.21544866
48	Macrocytic anemia (HP:0001972)	2.21489362
49	Hypoplasia of the pons (HP:0012110)	2.17975136
50	Tubulointerstitial fibrosis (HP:0005576)	2.16775461
51	Decreased central vision (HP:0007663)	2.13180023
52	Tachypnea (HP:0002789)	2.11538832
53	Optic disc pallor (HP:0000543)	2.11373795
54	Tubulointerstitial abnormality (HP:0001969)	2.11075009
55	Tubular atrophy (HP:0000092)	2.10800896
56	Vacuolated lymphocytes (HP:0001922)	2.10745359
57	Postaxial foot polydactyly (HP:0001830)	2.10298578
58	Alkalosis (HP:0001948)	2.09404689
59	Hypoplasia of the ulna (HP:0003022)	2.09331034
60	Septo-optic dysplasia (HP:0100842)	2.07337384
61	Abnormality of the renal cortex (HP:0011035)	2.06458783
62	Ketosis (HP:0001946)	2.06011576
63	Hyperglycinuria (HP:0003108)	2.05101467
64	Megalencephaly (HP:0001355)	2.04467818
65	Progressive cerebellar ataxia (HP:0002073)	2.02994985
66	Dandy-Walker malformation (HP:0001305)	2.01133200
67	Adrenal hypoplasia (HP:0000835)	1.98597299
68	Congenital stationary night blindness (HP:0007642)	1.98446215
69	Irregular vertebral endplates (HP:0003301)	1.96019598
70	Abnormality of serum amino acid levels (HP:0003112)	1.94094083
71	Anophthalmia (HP:0000528)	1.93977268
72	Abnormality of DNA repair (HP:0003254)	1.91024272
73	Increased CSF lactate (HP:0002490)	1.89189535
74	Genetic anticipation (HP:0003743)	1.88777364
75	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.86570291
76	Mitochondrial inheritance (HP:0001427)	1.86062442
77	Hepatocellular necrosis (HP:0001404)	1.85751333
78	Aplasia/Hypoplasia of the ulna (HP:0006495)	1.85426220
79	Abolished electroretinogram (ERG) (HP:0000550)	1.84073638
80	Congenital hepatic fibrosis (HP:0002612)	1.83205416
81	Horseshoe kidney (HP:0000085)	1.82716905
82	Narrow forehead (HP:0000341)	1.82220984
83	Congenital, generalized hypertrichosis (HP:0004540)	1.80023370
84	Abnormality of the renal collecting system (HP:0004742)	1.79344957
85	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.78911545
86	Medial flaring of the eyebrow (HP:0010747)	1.77933310
87	Thyroid-stimulating hormone excess (HP:0002925)	1.74422273
88	Abnormal drinking behavior (HP:0030082)	1.73740886
89	Polydipsia (HP:0001959)	1.73740886
90	Carpal bone hypoplasia (HP:0001498)	1.73694788
91	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.73693893
92	Colon cancer (HP:0003003)	1.73197809
93	Bilateral microphthalmos (HP:0007633)	1.73081956
94	Abnormality of glycine metabolism (HP:0010895)	1.72324285
95	Abnormality of serine family amino acid metabolism (HP:0010894)	1.72324285
96	Duplicated collecting system (HP:0000081)	1.72086157
97	Increased serum lactate (HP:0002151)	1.71431832
98	Acute encephalopathy (HP:0006846)	1.66784753
99	Absent septum pellucidum (HP:0001331)	1.66034193
100	Ovoid vertebral bodies (HP:0003300)	1.65539272

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K13	4.22325678
2	BCKDK	3.01614355
3	CAMK1D	2.96495353
4	PIK3CA	2.63965100
5	WNK4	2.52798616
6	FRK	2.49007636
7	DYRK2	2.26498298
8	NUAK1	2.21665048
9	CDC42BPA	2.15015061
10	PDK2	2.03233917
11	CAMK1G	1.97722926
12	STK16	1.94569405
13	TAF1	1.82030986
14	TXK	1.72240729
15	MAPK13	1.70557025
16	TLK1	1.62755457
17	EPHA4	1.55269815
18	MARK1	1.51486046
19	CDK8	1.51016791
20	DAPK3	1.50258396
21	NTRK2	1.38016532
22	STK39	1.37704609
23	DYRK3	1.34536300
24	GRK1	1.31619408
25	KSR1	1.30874923
26	WNK3	1.30606707
27	TRIM28	1.28070121
28	TGFBR1	1.26756818
29	MAP3K9	1.23931330
30	MOS	1.22947307
31	EPHB2	1.22799208
32	MAP4K2	1.16678220
33	EIF2AK3	1.16676299
34	ADRBK2	1.13691519
35	TIE1	1.12442289
36	MST4	1.10147965
37	PNCK	1.07287878
38	EEF2K	1.05302712
39	NEK1	1.03796054
40	BCR	1.02384360
41	MAPKAPK5	1.02266771
42	SRPK1	0.99936502
43	DAPK2	0.98981274
44	IRAK1	0.97671907
45	TSSK6	0.95525730
46	PAK3	0.95470975
47	PINK1	0.93251787
48	BMPR1B	0.91047179
49	TYRO3	0.89093372
50	YES1	0.87134214
51	INSRR	0.86407705
52	MAPK15	0.85097197
53	NTRK3	0.82464433
54	GRK6	0.79985727
55	PRKCQ	0.79210849
56	ADRBK1	0.79105656
57	ARAF	0.78196243
58	PRKCG	0.77465079
59	PASK	0.76536542
60	PRKCH	0.74861062
61	CASK	0.74835321
62	NEK2	0.73984498
63	ACVR1B	0.69014584
64	MAP2K2	0.67734204
65	MAP2K1	0.67460703
66	MAPKAPK3	0.66890675
67	STK11	0.66783385
68	ALK	0.66507275
69	PRKCZ	0.63219165
70	ZAK	0.61389246
71	DYRK1B	0.58109471
72	PDGFRB	0.55527976
73	CAMK1	0.54681719
74	NME1	0.54022830
75	RPS6KA4	0.53644908
76	CDK7	0.52728550
77	VRK2	0.50480193
78	PRKD3	0.50391211
79	ERBB3	0.48486038
80	CAMK2D	0.48263133
81	PIM1	0.46775905
82	AURKB	0.46492235
83	IRAK4	0.46309260
84	RAF1	0.45042659
85	PLK3	0.44302536
86	GRK7	0.43931118
87	WNK1	0.42308488
88	MKNK2	0.40905849
89	VRK1	0.39096370
90	IKBKB	0.38955768
91	CDC7	0.38549623
92	PLK4	0.38431760
93	NEK9	0.38231385
94	PRKCE	0.37263600
95	PRKACA	0.36675745
96	PIM2	0.36250035
97	CHEK2	0.35308527
98	PRKCI	0.35285315
99	RPS6KB2	0.33686053
100	PKN1	0.33351053

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	5.10017280
2	Ribosome_Homo sapiens_hsa03010	3.60810012
3	Caffeine metabolism_Homo sapiens_hsa00232	2.93015970
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.91293763
5	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.84448300
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.70604679
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.38611249
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.24456548
9	Tryptophan metabolism_Homo sapiens_hsa00380	2.24364480
10	Basal transcription factors_Homo sapiens_hsa03022	2.18242651
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.16630793
12	Sulfur relay system_Homo sapiens_hsa04122	2.16210560
13	RNA polymerase_Homo sapiens_hsa03020	2.01334063
14	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.97867344
15	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.90596701
16	Phototransduction_Homo sapiens_hsa04744	1.88803919
17	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.84677543
18	One carbon pool by folate_Homo sapiens_hsa00670	1.68047874
19	RNA degradation_Homo sapiens_hsa03018	1.66579390
20	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.63143977
21	Oxidative phosphorylation_Homo sapiens_hsa00190	1.56953603
22	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.55715499
23	Nicotine addiction_Homo sapiens_hsa05033	1.53574076
24	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.52776423
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.52580107
26	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.39311606
27	Homologous recombination_Homo sapiens_hsa03440	1.38796589
28	Steroid biosynthesis_Homo sapiens_hsa00100	1.31066568
29	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.30412622
30	Parkinsons disease_Homo sapiens_hsa05012	1.27005513
31	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.25381860
32	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.20253090
33	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.19185472
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.18452563
35	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.17892089
36	Propanoate metabolism_Homo sapiens_hsa00640	1.14332389
37	Butanoate metabolism_Homo sapiens_hsa00650	1.13238761
38	Cardiac muscle contraction_Homo sapiens_hsa04260	1.07357833
39	Protein export_Homo sapiens_hsa03060	1.05774257
40	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.05390494
41	Phenylalanine metabolism_Homo sapiens_hsa00360	1.05037250
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.03400273
43	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.02341968
44	Tyrosine metabolism_Homo sapiens_hsa00350	0.98865262
45	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.98507500
46	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.95866953
47	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.88174954
48	Nucleotide excision repair_Homo sapiens_hsa03420	0.87925631
49	Ether lipid metabolism_Homo sapiens_hsa00565	0.87158226
50	Serotonergic synapse_Homo sapiens_hsa04726	0.85930889
51	Huntingtons disease_Homo sapiens_hsa05016	0.85275075
52	Histidine metabolism_Homo sapiens_hsa00340	0.85148009
53	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.81131682
54	Taste transduction_Homo sapiens_hsa04742	0.80992630
55	Non-homologous end-joining_Homo sapiens_hsa03450	0.80467479
56	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.79233754
57	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.76951748
58	Glutamatergic synapse_Homo sapiens_hsa04724	0.72457676
59	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.71584679
60	Morphine addiction_Homo sapiens_hsa05032	0.70788106
61	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.69728312
62	Fatty acid elongation_Homo sapiens_hsa00062	0.69534632
63	Peroxisome_Homo sapiens_hsa04146	0.65367293
64	Insulin secretion_Homo sapiens_hsa04911	0.65320522
65	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.61379983
66	Alzheimers disease_Homo sapiens_hsa05010	0.59958785
67	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.59245758
68	ABC transporters_Homo sapiens_hsa02010	0.58820705
69	Chemical carcinogenesis_Homo sapiens_hsa05204	0.58559885
70	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.58278306
71	Purine metabolism_Homo sapiens_hsa00230	0.57631122
72	RNA transport_Homo sapiens_hsa03013	0.54891845
73	Olfactory transduction_Homo sapiens_hsa04740	0.54621024
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.52187257
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.51244355
76	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.50928069
77	Glutathione metabolism_Homo sapiens_hsa00480	0.49773874
78	Retinol metabolism_Homo sapiens_hsa00830	0.48936249
79	Fat digestion and absorption_Homo sapiens_hsa04975	0.48723207
80	Long-term depression_Homo sapiens_hsa04730	0.46060198
81	Pyrimidine metabolism_Homo sapiens_hsa00240	0.45799951
82	Mineral absorption_Homo sapiens_hsa04978	0.43928093
83	Metabolic pathways_Homo sapiens_hsa01100	0.43801653
84	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.42394803
85	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.40352604
86	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.40219429
87	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.39426552
88	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.37931027
89	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.37623749
90	GABAergic synapse_Homo sapiens_hsa04727	0.37565599
91	Basal cell carcinoma_Homo sapiens_hsa05217	0.34543830
92	Arginine and proline metabolism_Homo sapiens_hsa00330	0.30416296
93	Mismatch repair_Homo sapiens_hsa03430	0.29866105
94	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.27940365
95	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.27603880
96	Base excision repair_Homo sapiens_hsa03410	0.27392565
97	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.26379917
98	Calcium signaling pathway_Homo sapiens_hsa04020	0.24331829
99	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.24047550
100	Axon guidance_Homo sapiens_hsa04360	0.23190899

RPS3AP53

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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