ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	nucleoside salvage (GO:0043174)	9.92257908
2	pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)	9.11058576
3	pyrimidine nucleoside monophosphate metabolic process (GO:0009129)	8.51128643
4	viral transcription (GO:0019083)	8.04156765
5	translational termination (GO:0006415)	7.84715208
6	CTP biosynthetic process (GO:0006241)	6.87343128
7	CTP metabolic process (GO:0046036)	6.87343128
8	translational elongation (GO:0006414)	6.82106522
9	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	6.49880872
10	ribosomal small subunit assembly (GO:0000028)	6.39004609
11	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	6.28861489
12	keratinocyte development (GO:0003334)	6.28236080
13	cotranslational protein targeting to membrane (GO:0006613)	6.18959679
14	protein targeting to ER (GO:0045047)	6.13406583
15	cellular protein complex disassembly (GO:0043624)	6.08375559
16	diterpenoid biosynthetic process (GO:0016102)	6.06750363
17	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	6.02735361
18	establishment of protein localization to endoplasmic reticulum (GO:0072599)	5.86555981
19	regulation of glycogen (starch) synthase activity (GO:2000465)	5.72507115
20	protein localization to endoplasmic reticulum (GO:0070972)	5.70444558
21	viral life cycle (GO:0019058)	5.66962967
22	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	5.62668807
23	pentose-phosphate shunt (GO:0006098)	5.56829791
24	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	5.54704583
25	pentose metabolic process (GO:0019321)	5.52758889
26	pyrimidine ribonucleoside biosynthetic process (GO:0046132)	5.38523468
27	protein complex disassembly (GO:0043241)	5.24971297
28	activation of NF-kappaB-inducing kinase activity (GO:0007250)	5.14038304
29	pyrimidine ribonucleotide biosynthetic process (GO:0009220)	5.12684214
30	regulation of activation of Janus kinase activity (GO:0010533)	5.06020142
31	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	4.99614858
32	purine nucleotide salvage (GO:0032261)	4.97024001
33	NADPH regeneration (GO:0006740)	4.96155937
34	terpenoid biosynthetic process (GO:0016114)	4.94727994
35	macromolecular complex disassembly (GO:0032984)	4.91320754
36	translational initiation (GO:0006413)	4.84452640
37	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	4.77564647
38	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	4.77564647
39	pyrimidine ribonucleotide metabolic process (GO:0009218)	4.62298457
40	cellular metabolic compound salvage (GO:0043094)	4.49588051
41	ribosomal small subunit biogenesis (GO:0042274)	4.29701785
42	pyrimidine nucleotide biosynthetic process (GO:0006221)	4.11008148
43	protein targeting to membrane (GO:0006612)	4.09455968
44	positive regulation of NIK/NF-kappaB signaling (GO:1901224)	4.01524163
45	maturation of SSU-rRNA (GO:0030490)	3.96972169
46	glucose catabolic process (GO:0006007)	3.95724673
47	pyrimidine nucleoside biosynthetic process (GO:0046134)	3.92294110
48	negative regulation of keratinocyte proliferation (GO:0010839)	3.91380369
49	pyrimidine ribonucleoside metabolic process (GO:0046131)	3.89898781
50	neutrophil mediated immunity (GO:0002446)	3.86453460
51	DNA ligation (GO:0006266)	3.78456753
52	translation (GO:0006412)	3.76893954
53	interleukin-6-mediated signaling pathway (GO:0070102)	3.67618328
54	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.61988194
55	regulation of NIK/NF-kappaB signaling (GO:1901222)	3.51691498
56	negative regulation of JAK-STAT cascade (GO:0046426)	3.51426856
57	response to folic acid (GO:0051593)	3.50909420
58	regulation of hypersensitivity (GO:0002883)	3.47199001
59	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.44809069
60	positive regulation of inflammatory response to antigenic stimulus (GO:0002863)	3.39180692
61	peptidyl-lysine dimethylation (GO:0018027)	3.28282027
62	pyrimidine-containing compound biosynthetic process (GO:0072528)	3.27250039
63	peptidyl-cysteine modification (GO:0018198)	3.24274343
64	ribosomal large subunit biogenesis (GO:0042273)	3.23680053
65	mRNA catabolic process (GO:0006402)	3.23373882
66	negative regulation of B cell apoptotic process (GO:0002903)	3.19570081
67	response to nitric oxide (GO:0071731)	3.16041882
68	translesion synthesis (GO:0019985)	3.14404546
69	centrosome duplication (GO:0051298)	3.09804141
70	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.07264203
71	pyrimidine nucleotide metabolic process (GO:0006220)	3.07061718
72	myeloid leukocyte mediated immunity (GO:0002444)	3.04475830
73	monocyte chemotaxis (GO:0002548)	2.98769848
74	RNA catabolic process (GO:0006401)	2.97917862
75	neutrophil activation involved in immune response (GO:0002283)	2.95533988
76	catecholamine transport (GO:0051937)	2.90784797
77	mammary gland epithelial cell differentiation (GO:0060644)	2.90186390
78	negative regulation of interleukin-8 production (GO:0032717)	2.90135618
79	DNA synthesis involved in DNA repair (GO:0000731)	2.85975281
80	retinal metabolic process (GO:0042574)	2.82494961
81	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.81912838
82	establishment of skin barrier (GO:0061436)	2.76903926
83	behavioral response to nicotine (GO:0035095)	2.74257627
84	positive regulation of epidermal cell differentiation (GO:0045606)	2.73321920
85	pyrimidine nucleoside metabolic process (GO:0006213)	2.73145328
86	regulation of acute inflammatory response to antigenic stimulus (GO:0002864)	2.73077697
87	negative regulation of stem cell proliferation (GO:2000647)	2.69333642
88	tRNA modification (GO:0006400)	2.67831255
89	establishment of protein localization to membrane (GO:0090150)	2.66429021
90	piRNA metabolic process (GO:0034587)	2.65491707
91	organ or tissue specific immune response (GO:0002251)	2.60602257
92	purine nucleobase biosynthetic process (GO:0009113)	2.60114529
93	mitochondrial respiratory chain complex assembly (GO:0033108)	2.59534222
94	nucleotide salvage (GO:0043173)	11.0635499
95	UMP metabolic process (GO:0046049)	10.8902341
96	pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)	10.8902341
97	UMP biosynthetic process (GO:0006222)	10.8902341
98	pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)	10.8902341
99	pyrimidine nucleoside salvage (GO:0043097)	10.7923786
100	pyrimidine-containing compound salvage (GO:0008655)	10.7923786

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RBPJ_22232070_ChIP-Seq_NCS_Mouse	5.74385336
2	EZH2_22144423_ChIP-Seq_EOC_Human	4.44920422
3	IKZF1_21737484_ChIP-ChIP_HCT116_Human	3.45775754
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.09146516
5	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.75728734
6	PCGF2_27294783_Chip-Seq_NPCs_Mouse	2.57166827
7	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.50432067
8	RUNX_20019798_ChIP-Seq_JUKART_Human	2.41454603
9	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.34023890
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21411476
11	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	2.20560680
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.09074115
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.08767807
14	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.04733470
15	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.89805545
16	IRF1_19129219_ChIP-ChIP_H3396_Human	1.88966583
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.88854993
18	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.87803118
19	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.86138585
20	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.81636443
21	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.81636443
22	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.81636443
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79084413
24	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.78202522
25	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.74132883
26	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.71679748
27	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.71033756
28	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.67991105
29	VDR_22108803_ChIP-Seq_LS180_Human	1.65766792
30	TP53_22573176_ChIP-Seq_HFKS_Human	1.60681098
31	ELK1_19687146_ChIP-ChIP_HELA_Human	1.60316287
32	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.55999313
33	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.54298069
34	ZNF274_21170338_ChIP-Seq_K562_Hela	1.53908087
35	IGF1R_20145208_ChIP-Seq_DFB_Human	1.50104633
36	TAF15_26573619_Chip-Seq_HEK293_Human	1.45865996
37	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.45645234
38	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.43952093
39	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.40837022
40	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.38333570
41	ERA_21632823_ChIP-Seq_H3396_Human	1.37662245
42	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.35108219
43	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.33890260
44	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.32803879
45	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32756267
46	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.31719419
47	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.29424861
48	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.28146656
49	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.27903423
50	BCAT_22108803_ChIP-Seq_LS180_Human	1.27838268
51	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.27804095
52	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.26729320
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.26182819
54	GATA3_26560356_Chip-Seq_TH2_Human	1.23850657
55	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.23236221
56	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.22976215
57	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.22513519
58	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.20749397
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.20698736
60	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.18997394
61	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.14466688
62	VDR_23849224_ChIP-Seq_CD4+_Human	1.14050867
63	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.12885482
64	NCOR_22424771_ChIP-Seq_293T_Human	1.12401348
65	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.10953867
66	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.09948833
67	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.09624151
68	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.09462508
69	TTF2_22483619_ChIP-Seq_HELA_Human	1.09375937
70	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.05457134
71	CTCF_20526341_ChIP-Seq_ESCs_Human	1.03793865
72	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.02169286
73	MYC_19829295_ChIP-Seq_ESCs_Human	1.00952206
74	JUN_21703547_ChIP-Seq_K562_Human	0.99246073
75	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.98468850
76	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.97027044
77	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	0.94947807
78	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.94833783
79	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.91700209
80	P53_21459846_ChIP-Seq_SAOS-2_Human	0.90631116
81	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.90607793
82	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.90225315
83	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.89426901
84	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.89385303
85	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.89194160
86	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.88139087
87	NANOG_19829295_ChIP-Seq_ESCs_Human	0.86769181
88	SOX2_19829295_ChIP-Seq_ESCs_Human	0.86769181
89	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.85816354
90	FUS_26573619_Chip-Seq_HEK293_Human	0.85250973
91	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.84368250
92	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.84184592
93	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.84095497
94	SOX2_21211035_ChIP-Seq_LN229_Human	0.84058656
95	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.83859799
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.83828381
97	SA1_27219007_Chip-Seq_Bcells_Human	0.83564154
98	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.83458976
99	GATA3_21867929_ChIP-Seq_TH1_Mouse	0.82749848
100	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.80861378

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002163_abnormal_gland_morphology	4.52677097
2	MP0006292_abnormal_olfactory_placode	4.52409142
3	MP0009379_abnormal_foot_pigmentation	3.91402357
4	MP0003724_increased_susceptibility_to	3.33764342
5	MP0001346_abnormal_lacrimal_gland	3.31008734
6	MP0008875_abnormal_xenobiotic_pharmacok	3.19197545
7	MP0001348_abnormal_lacrimal_gland	3.12110347
8	MP0005379_endocrine/exocrine_gland_phen	2.92041646
9	MP0003646_muscle_fatigue	2.91755415
10	MP0006082_CNS_inflammation	2.32605744
11	MP0001873_stomach_inflammation	2.29166042
12	MP0005360_urolithiasis	2.24046492
13	MP0000383_abnormal_hair_follicle	2.00901811
14	MP0003878_abnormal_ear_physiology	1.97132995
15	MP0005377_hearing/vestibular/ear_phenot	1.97132995
16	MP0001293_anophthalmia	1.89351822
17	MP0008872_abnormal_physiological_respon	1.84938712
18	MP0002234_abnormal_pharynx_morphology	1.73113201
19	MP0003806_abnormal_nucleotide_metabolis	1.67826581
20	MP0000538_abnormal_urinary_bladder	1.67410283
21	MP0002837_dystrophic_cardiac_calcinosis	1.66164083
22	MP0005310_abnormal_salivary_gland	1.65541240
23	MP0008877_abnormal_DNA_methylation	1.65190951
24	MP0005167_abnormal_blood-brain_barrier	1.65043243
25	MP0001835_abnormal_antigen_presentation	1.62286010
26	MP0005000_abnormal_immune_tolerance	1.55104150
27	MP0000613_abnormal_salivary_gland	1.52327565
28	MP0001663_abnormal_digestive_system	1.51693942
29	MP0002148_abnormal_hypersensitivity_rea	1.48461120
30	MP0004145_abnormal_muscle_electrophysio	1.47097885
31	MP0002138_abnormal_hepatobiliary_system	1.43000438
32	MP0002736_abnormal_nociception_after	1.42293104
33	MP0005387_immune_system_phenotype	1.37775253
34	MP0001790_abnormal_immune_system	1.37775253
35	MP0001853_heart_inflammation	1.32282475
36	MP0004142_abnormal_muscle_tone	1.31499865
37	MP0001968_abnormal_touch/_nociception	1.30156565
38	MP0003787_abnormal_imprinting	1.29703135
39	MP0003279_aneurysm	1.28757375
40	MP0002277_abnormal_respiratory_mucosa	1.26841968
41	MP0003315_abnormal_perineum_morphology	1.23658372
42	MP0006072_abnormal_retinal_apoptosis	1.17700369
43	MP0004885_abnormal_endolymph	1.17558025
44	MP0003119_abnormal_digestive_system	1.13749131
45	MP0000566_synostosis	1.12745000
46	MP0002933_joint_inflammation	1.11467486
47	MP0001986_abnormal_taste_sensitivity	1.09267162
48	MP0005381_digestive/alimentary_phenotyp	1.06057565
49	MP0002733_abnormal_thermal_nociception	1.05982808
50	MP0001800_abnormal_humoral_immune	1.05262144
51	MP0009764_decreased_sensitivity_to	1.05162527
52	MP0006276_abnormal_autonomic_nervous	1.04446774
53	MP0001919_abnormal_reproductive_system	1.03464027
54	MP0010155_abnormal_intestine_physiology	1.02075598
55	MP0005389_reproductive_system_phenotype	1.01210762
56	MP0003300_gastrointestinal_ulcer	1.00263357
57	MP0004147_increased_porphyrin_level	0.97492037
58	MP0009785_altered_susceptibility_to	0.94535715
59	MP0001845_abnormal_inflammatory_respons	0.94278936
60	MP0000049_abnormal_middle_ear	0.93592920
61	MP0009250_abnormal_appendicular_skeleto	0.93592116
62	MP0001879_abnormal_lymphatic_vessel	0.92209973
63	MP0010678_abnormal_skin_adnexa	0.91704986
64	MP0005671_abnormal_response_to	0.89986441
65	MP0010030_abnormal_orbit_morphology	0.89398835
66	MP0001756_abnormal_urination	0.88446332
67	MP0001970_abnormal_pain_threshold	0.87172220
68	MP0002723_abnormal_immune_serum	0.87040968
69	MP0002272_abnormal_nervous_system	0.84003796
70	MP0002938_white_spotting	0.83261962
71	MP0002160_abnormal_reproductive_system	0.83128914
72	MP0002932_abnormal_joint_morphology	0.81972024
73	MP0004742_abnormal_vestibular_system	0.80892741
74	MP0005084_abnormal_gallbladder_morpholo	0.79478137
75	MP0005332_abnormal_amino_acid	0.79122752
76	MP0000470_abnormal_stomach_morphology	0.79016233
77	MP0010329_abnormal_lipoprotein_level	0.78535534
78	MP0002452_abnormal_antigen_presenting	0.78467904
79	MP0001905_abnormal_dopamine_level	0.77555006
80	MP0001944_abnormal_pancreas_morphology	0.76086514
81	MP0005025_abnormal_response_to	0.74654088
82	MP0005503_abnormal_tendon_morphology	0.74432356
83	MP0008789_abnormal_olfactory_epithelium	0.73828159
84	MP0002095_abnormal_skin_pigmentation	0.71708339
85	MP0003938_abnormal_ear_development	0.71128275
86	MP0009745_abnormal_behavioral_response	0.70614863
87	MP0002136_abnormal_kidney_physiology	0.69900808
88	MP0002282_abnormal_trachea_morphology	0.66311775
89	MP0000689_abnormal_spleen_morphology	0.65271234
90	MP0002098_abnormal_vibrissa_morphology	0.65003496
91	MP0002405_respiratory_system_inflammati	0.64992883
92	MP0005165_increased_susceptibility_to	0.64886425
93	MP0009643_abnormal_urine_homeostasis	0.64562695
94	MP0002420_abnormal_adaptive_immunity	0.64528481
95	MP0003122_maternal_imprinting	0.64093359
96	MP0002735_abnormal_chemical_nociception	0.63323925
97	MP0003011_delayed_dark_adaptation	0.62893457
98	MP0001819_abnormal_immune_cell	0.62835777
99	MP0001286_abnormal_eye_development	0.62663754
100	MP0008057_abnormal_DNA_replication	0.62319061

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Difficulty running (HP:0009046)	6.91240020
2	Hip dysplasia (HP:0001385)	6.62888892
3	Hypoplasia of the pons (HP:0012110)	5.70663270
4	Abnormality of the pons (HP:0007361)	5.28897079
5	Hip contracture (HP:0003273)	5.01190767
6	Abnormality of cells of the erythroid lineage (HP:0012130)	4.49015999
7	Achilles tendon contracture (HP:0001771)	4.46691133
8	Opisthotonus (HP:0002179)	4.40159644
9	Abnormality of the Achilles tendon (HP:0005109)	4.05144295
10	Poor suck (HP:0002033)	3.90777319
11	Limited hip movement (HP:0008800)	3.83822898
12	Aplasia/Hypoplasia of the spleen (HP:0010451)	3.77785272
13	Parakeratosis (HP:0001036)	3.76172564
14	Asplenia (HP:0001746)	3.71230198
15	Macrocytic anemia (HP:0001972)	3.66543621
16	Stenosis of the external auditory canal (HP:0000402)	3.56965682
17	Abnormal number of erythroid precursors (HP:0012131)	3.56690886
18	Reticulocytopenia (HP:0001896)	3.55633102
19	Type 2 muscle fiber atrophy (HP:0003554)	3.29875766
20	Acute necrotizing encephalopathy (HP:0006965)	3.29479906
21	Supernumerary spleens (HP:0009799)	3.28463965
22	Increased hepatocellular lipid droplets (HP:0006565)	3.06334430
23	Hyperglycinemia (HP:0002154)	3.06113642
24	Abnormality of midbrain morphology (HP:0002418)	3.05036876
25	Molar tooth sign on MRI (HP:0002419)	3.05036876
26	Congenital, generalized hypertrichosis (HP:0004540)	3.02512013
27	Progressive macrocephaly (HP:0004481)	2.72691479
28	Dyskinesia (HP:0100660)	2.72407352
29	Abnormal mitochondria in muscle tissue (HP:0008316)	2.71185049
30	Lipid accumulation in hepatocytes (HP:0006561)	2.69954287
31	Muscle fiber atrophy (HP:0100295)	2.69194977
32	Restlessness (HP:0000711)	2.68596720
33	Knee flexion contracture (HP:0006380)	2.66494359
34	Pallor (HP:0000980)	2.65980052
35	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.63066874
36	Impaired smooth pursuit (HP:0007772)	2.60132053
37	Renal Fanconi syndrome (HP:0001994)	2.58869600
38	Acute encephalopathy (HP:0006846)	2.58311637
39	Tubular atrophy (HP:0000092)	2.53715134
40	Polydipsia (HP:0001959)	2.51909691
41	Abnormal drinking behavior (HP:0030082)	2.51909691
42	Bile duct proliferation (HP:0001408)	2.50467537
43	Abnormal biliary tract physiology (HP:0012439)	2.50467537
44	Facial shape deformation (HP:0011334)	2.45047272
45	Potter facies (HP:0002009)	2.45047272
46	Mitochondrial inheritance (HP:0001427)	2.44041977
47	Poor speech (HP:0002465)	2.42338794
48	Elevated erythrocyte sedimentation rate (HP:0003565)	2.40319316
49	Scapular winging (HP:0003691)	2.36204539
50	Abnormality of the labia minora (HP:0012880)	2.34170173
51	Abnormality of the renal medulla (HP:0100957)	2.33975260
52	Septo-optic dysplasia (HP:0100842)	2.33133193
53	Tubulointerstitial fibrosis (HP:0005576)	2.23392793
54	Increased intramyocellular lipid droplets (HP:0012240)	2.22610079
55	3-Methylglutaconic aciduria (HP:0003535)	2.19604543
56	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.19412908
57	Gowers sign (HP:0003391)	2.17832118
58	Autoimmune thrombocytopenia (HP:0001973)	2.16924921
59	Nephronophthisis (HP:0000090)	2.10640385
60	Hypoplasia of the ulna (HP:0003022)	2.10295958
61	Symphalangism affecting the phalanges of the hand (HP:0009773)	2.09405005
62	Increased CSF lactate (HP:0002490)	2.07323803
63	Poor eye contact (HP:0000817)	2.03867732
64	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.03077076
65	Cerebral edema (HP:0002181)	2.02059793
66	Waddling gait (HP:0002515)	2.00998961
67	Oligodactyly (hands) (HP:0001180)	2.00819667
68	Short femoral neck (HP:0100864)	2.00198322
69	Decreased muscle mass (HP:0003199)	1.95409753
70	Sacral dimple (HP:0000960)	1.94152877
71	Abnormality of renal resorption (HP:0011038)	1.92889795
72	Thick lower lip vermilion (HP:0000179)	1.92782025
73	Abnormal rod and cone electroretinograms (HP:0008323)	1.92141561
74	Polyuria (HP:0000103)	1.91548241
75	Short 4th metacarpal (HP:0010044)	1.90261836
76	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	1.90261836
77	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.89105695
78	Absent/shortened dynein arms (HP:0200106)	1.89105695
79	Testicular atrophy (HP:0000029)	1.87561867
80	Exertional dyspnea (HP:0002875)	1.84969637
81	Submucous cleft hard palate (HP:0000176)	1.83973515
82	Abnormality of the neuromuscular junction (HP:0003398)	1.83765386
83	Fatigable weakness (HP:0003473)	1.83765386
84	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.83523835
85	Hypoplasia of the brainstem (HP:0002365)	1.83523835
86	Wide intermamillary distance (HP:0006610)	1.82214006
87	Overriding aorta (HP:0002623)	1.81355414
88	Spondylolisthesis (HP:0003302)	1.79583451
89	Increased muscle lipid content (HP:0009058)	1.79261244
90	Mesomelia (HP:0003027)	1.78630732
91	Mediastinal lymphadenopathy (HP:0100721)	1.77239536
92	Hypoplasia of the radius (HP:0002984)	1.77037074
93	Absent septum pellucidum (HP:0001331)	1.76162023
94	Renal dysplasia (HP:0000110)	1.75713266
95	Pancreatic fibrosis (HP:0100732)	1.74333788
96	Elfin facies (HP:0004428)	1.73913625
97	Abnormality of the phalanges of the 5th finger (HP:0004213)	1.73722041
98	Progressive microcephaly (HP:0000253)	1.73310318
99	Abnormality of the 4th metacarpal (HP:0010012)	1.72085456
100	Severe global developmental delay (HP:0011344)	1.71720743

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	LIMK1	6.36098500
2	MAP4K1	3.87502693
3	NLK	3.30186967
4	ADRBK2	2.91551721
5	TESK1	2.08186319
6	TAF1	2.01359217
7	NEK1	1.97454019
8	BMPR1B	1.96721982
9	PRKCG	1.96613247
10	ACVR1B	1.92013659
11	MAP4K2	1.89790870
12	DYRK2	1.89207704
13	SGK223	1.86289576
14	SGK494	1.86289576
15	ZAK	1.79263711
16	CSF1R	1.76708405
17	EPHB2	1.73197263
18	NME2	1.71356933
19	SGK2	1.69486391
20	LRRK2	1.61016577
21	TGFBR1	1.49026275
22	WNK3	1.46739981
23	PRKCQ	1.32796420
24	GRK1	1.29366472
25	MUSK	1.24908863
26	CDC42BPA	1.18582013
27	WNK4	1.17782180
28	ADRBK1	1.13702056
29	TIE1	1.12833208
30	MATK	1.12710767
31	SGK3	1.12408206
32	PLK4	1.12092604
33	DYRK1A	1.11589234
34	LYN	1.11245083
35	PKN1	1.08767967
36	TXK	1.06752754
37	PLK2	1.04811645
38	CSNK2A2	1.03571014
39	STK24	1.00478474
40	TLK1	1.00432541
41	IKBKE	0.96549669
42	CSNK1G1	0.88685150
43	RPS6KA5	0.86592480
44	PASK	0.83709587
45	CSNK2A1	0.81976699
46	LCK	0.77716879
47	CDC7	0.74017145
48	SGK1	0.73471056
49	INSRR	0.72876034
50	GRK7	0.71647300
51	TEC	0.70752136
52	PIK3CA	0.69761186
53	NTRK2	0.68232383
54	OBSCN	0.68050874
55	TSSK6	0.67495432
56	BRAF	0.65511725
57	MINK1	0.64954004
58	PINK1	0.64869787
59	PDK2	0.62229196
60	MYLK	0.61821600
61	IKBKB	0.61531628
62	CAMKK2	0.60731704
63	BUB1	0.60700448
64	CDK4	0.58223939
65	TRIM28	0.56740975
66	PAK1	0.54993546
67	EPHA4	0.54888618
68	MAP3K11	0.54540978
69	CDK8	0.54062556
70	PRKCA	0.53769984
71	STK16	0.51582394
72	CSNK1A1	0.51320542
73	BCKDK	0.50316699
74	CSK	0.49103639
75	ITK	0.48412838
76	PHKG1	0.48277580
77	PHKG2	0.48277580
78	VRK1	0.47456160
79	VRK2	0.47238521
80	RPS6KA6	0.45778252
81	PRKCH	0.45635588
82	AKT3	0.45063133
83	PDK1	0.44404187
84	FES	0.43497148
85	ERBB2	0.43356445
86	MAP3K9	0.42770498
87	BTK	0.41421492
88	PIK3CG	0.40060770
89	DAPK3	0.39786439
90	KIT	0.39397399
91	PRKACA	0.39307837
92	CAMK1	0.38880713
93	SYK	0.38655669
94	STK39	0.38194085
95	PIM1	0.35469577
96	MAP3K4	0.35452134
97	MAPK9	0.34994544
98	WEE1	0.34806659
99	PLK1	0.33863389
100	FRK	0.33794059

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	7.79453576
2	Sulfur relay system_Homo sapiens_hsa04122	6.77398871
3	Drug metabolism - other enzymes_Homo sapiens_hsa00983	3.42270669
4	Pentose phosphate pathway_Homo sapiens_hsa00030	3.02070100
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.37691289
6	Hematopoietic cell lineage_Homo sapiens_hsa04640	2.21595267
7	Pyrimidine metabolism_Homo sapiens_hsa00240	2.06417477
8	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.00088672
9	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	1.94099301
10	Parkinsons disease_Homo sapiens_hsa05012	1.87517880
11	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.62834849
12	Primary immunodeficiency_Homo sapiens_hsa05340	1.62552043
13	Cardiac muscle contraction_Homo sapiens_hsa04260	1.51108132
14	Measles_Homo sapiens_hsa05162	1.49321670
15	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.47637121
16	Allograft rejection_Homo sapiens_hsa05330	1.47029388
17	Graft-versus-host disease_Homo sapiens_hsa05332	1.42149854
18	Fat digestion and absorption_Homo sapiens_hsa04975	1.41739849
19	Basal transcription factors_Homo sapiens_hsa03022	1.41594151
20	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.40848218
21	Asthma_Homo sapiens_hsa05310	1.39948407
22	DNA replication_Homo sapiens_hsa03030	1.37267548
23	Alzheimers disease_Homo sapiens_hsa05010	1.32862266
24	Type I diabetes mellitus_Homo sapiens_hsa04940	1.30612665
25	Huntingtons disease_Homo sapiens_hsa05016	1.20493288
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.20061127
27	Caffeine metabolism_Homo sapiens_hsa00232	1.15025798
28	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.12778940
29	Nicotine addiction_Homo sapiens_hsa05033	1.11391011
30	Butanoate metabolism_Homo sapiens_hsa00650	1.03861706
31	Protein export_Homo sapiens_hsa03060	0.97441976
32	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.94396401
33	Glycerolipid metabolism_Homo sapiens_hsa00561	0.94220136
34	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.93578001
35	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.93532220
36	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.90537670
37	Proteasome_Homo sapiens_hsa03050	0.88780367
38	RNA degradation_Homo sapiens_hsa03018	0.82034613
39	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.80445037
40	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.79479899
41	Apoptosis_Homo sapiens_hsa04210	0.73977155
42	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.73309463
43	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.72153531
44	Tryptophan metabolism_Homo sapiens_hsa00380	0.71143205
45	Phototransduction_Homo sapiens_hsa04744	0.67811181
46	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.67410576
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66788995
48	Regulation of autophagy_Homo sapiens_hsa04140	0.66690244
49	Rheumatoid arthritis_Homo sapiens_hsa05323	0.66431116
50	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.63708335
51	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63395193
52	Sulfur metabolism_Homo sapiens_hsa00920	0.62506344
53	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.59977367
54	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.58446950
55	Malaria_Homo sapiens_hsa05144	0.57893716
56	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.56084866
57	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.53691541
58	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.53535699
59	Purine metabolism_Homo sapiens_hsa00230	0.51318503
60	Thyroid cancer_Homo sapiens_hsa05216	0.49963960
61	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.48342333
62	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.47622933
63	Influenza A_Homo sapiens_hsa05164	0.47535095
64	Nitrogen metabolism_Homo sapiens_hsa00910	0.46766158
65	Metabolic pathways_Homo sapiens_hsa01100	0.46568048
66	Olfactory transduction_Homo sapiens_hsa04740	0.45624439
67	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.45508813
68	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.45152384
69	Retinol metabolism_Homo sapiens_hsa00830	0.45074393
70	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.43622110
71	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.42943811
72	One carbon pool by folate_Homo sapiens_hsa00670	0.41022957
73	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.40234564
74	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.39914940
75	Taste transduction_Homo sapiens_hsa04742	0.39609815
76	Basal cell carcinoma_Homo sapiens_hsa05217	0.39479027
77	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.39454978
78	RNA polymerase_Homo sapiens_hsa03020	0.39393372
79	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.37534206
80	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.36767546
81	beta-Alanine metabolism_Homo sapiens_hsa00410	0.36026165
82	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.35485292
83	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.33671209
84	RNA transport_Homo sapiens_hsa03013	0.32407356
85	Morphine addiction_Homo sapiens_hsa05032	0.32143624
86	Legionellosis_Homo sapiens_hsa05134	0.30985395
87	Fanconi anemia pathway_Homo sapiens_hsa03460	0.30879662
88	Serotonergic synapse_Homo sapiens_hsa04726	0.27647648
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.24878159
90	Collecting duct acid secretion_Homo sapiens_hsa04966	0.24795286
91	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.24181027
92	Antigen processing and presentation_Homo sapiens_hsa04612	0.23409403
93	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.22070267
94	Gastric acid secretion_Homo sapiens_hsa04971	0.21586055
95	Protein digestion and absorption_Homo sapiens_hsa04974	0.20940555
96	Nucleotide excision repair_Homo sapiens_hsa03420	0.19931397
97	Glutathione metabolism_Homo sapiens_hsa00480	0.16880634
98	Tyrosine metabolism_Homo sapiens_hsa00350	0.16229038
99	Peroxisome_Homo sapiens_hsa04146	0.15293163
100	Chemokine signaling pathway_Homo sapiens_hsa04062	0.15060215

RPS12P28

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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