ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosomal small subunit assembly (GO:0000028)	8.35004620
2	ribosomal small subunit biogenesis (GO:0042274)	7.03267255
3	viral transcription (GO:0019083)	6.23543102
4	translational termination (GO:0006415)	5.97028588
5	translational elongation (GO:0006414)	5.27740582
6	maturation of SSU-rRNA (GO:0030490)	5.23978177
7	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.16407056
8	ATP synthesis coupled proton transport (GO:0015986)	5.16407056
9	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	4.99105169
10	cotranslational protein targeting to membrane (GO:0006613)	4.89693518
11	protein targeting to ER (GO:0045047)	4.88683181
12	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.81641522
13	protein localization to endoplasmic reticulum (GO:0070972)	4.68442709
14	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.66689309
15	water-soluble vitamin biosynthetic process (GO:0042364)	4.63812061
16	cellular protein complex disassembly (GO:0043624)	4.53935056
17	behavioral response to nicotine (GO:0035095)	4.52975050
18	viral life cycle (GO:0019058)	4.48124479
19	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.46516299
20	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.40818013
21	DNA deamination (GO:0045006)	4.24336039
22	GTP biosynthetic process (GO:0006183)	4.14859662
23	translational initiation (GO:0006413)	4.10938292
24	chaperone-mediated protein transport (GO:0072321)	3.96992331
25	ncRNA 3-end processing (GO:0043628)	3.95739293
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.89595025
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.89595025
28	NADH dehydrogenase complex assembly (GO:0010257)	3.89595025
29	protein complex biogenesis (GO:0070271)	3.87787646
30	UTP biosynthetic process (GO:0006228)	3.79387797
31	ribosomal large subunit biogenesis (GO:0042273)	3.74095133
32	protein complex disassembly (GO:0043241)	3.72295499
33	translation (GO:0006412)	3.69651132
34	ribonucleoprotein complex biogenesis (GO:0022613)	3.67841801
35	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.58212497
36	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.58212497
37	macromolecular complex disassembly (GO:0032984)	3.57771841
38	mitochondrial respiratory chain complex assembly (GO:0033108)	3.55557053
39	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.54289778
40	rRNA metabolic process (GO:0016072)	3.53358170
41	rRNA processing (GO:0006364)	3.48592913
42	cellular component biogenesis (GO:0044085)	3.48443995
43	positive regulation of cell fate commitment (GO:0010455)	3.48361809
44	UTP metabolic process (GO:0046051)	3.47118260
45	CTP biosynthetic process (GO:0006241)	3.44864246
46	CTP metabolic process (GO:0046036)	3.44864246
47	pyrimidine nucleotide catabolic process (GO:0006244)	3.44153830
48	rRNA catabolic process (GO:0016075)	3.41830707
49	respiratory electron transport chain (GO:0022904)	3.38983549
50	axoneme assembly (GO:0035082)	3.38577610
51	electron transport chain (GO:0022900)	3.36569394
52	regulation of meiosis I (GO:0060631)	3.34484690
53	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.32308796
54	peptidyl-threonine dephosphorylation (GO:0035970)	3.32085036
55	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.31734214
56	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.30729292
57	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	3.29600915
58	iron-sulfur cluster assembly (GO:0016226)	3.27760586
59	metallo-sulfur cluster assembly (GO:0031163)	3.27760586
60	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.24223822
61	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	3.23134311
62	transcription from mitochondrial promoter (GO:0006390)	3.20961990
63	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	3.17226014
64	protein targeting to membrane (GO:0006612)	3.14899537
65	mRNA catabolic process (GO:0006402)	3.13885199
66	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.11670383
67	respiratory chain complex IV assembly (GO:0008535)	3.08292181
68	ncRNA catabolic process (GO:0034661)	3.07234036
69	replication fork processing (GO:0031297)	3.06266737
70	ATP biosynthetic process (GO:0006754)	3.06240102
71	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.06083930
72	nucleoside diphosphate phosphorylation (GO:0006165)	3.05006307
73	positive regulation of meiosis (GO:0045836)	3.03928276
74	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	3.02317467
75	nonmotile primary cilium assembly (GO:0035058)	2.99973229
76	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.98224886
77	RNA catabolic process (GO:0006401)	2.95445843
78	base-excision repair, AP site formation (GO:0006285)	2.94039552
79	DNA strand renaturation (GO:0000733)	2.93908942
80	cellular ketone body metabolic process (GO:0046950)	2.93082733
81	hydrogen ion transmembrane transport (GO:1902600)	2.87755274
82	protein K6-linked ubiquitination (GO:0085020)	2.87413697
83	nucleoside triphosphate biosynthetic process (GO:0009142)	2.84135175
84	RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	2.83945619
85	positive regulation of meiotic cell cycle (GO:0051446)	2.83815220
86	opioid receptor signaling pathway (GO:0038003)	2.81475293
87	ubiquinone biosynthetic process (GO:0006744)	2.81399735
88	regulation of acrosome reaction (GO:0060046)	2.76031003
89	pyrimidine ribonucleoside biosynthetic process (GO:0046132)	2.75253303
90	cytochrome complex assembly (GO:0017004)	2.74107889
91	peptidyl-histidine modification (GO:0018202)	2.73493848
92	pseudouridine synthesis (GO:0001522)	2.73102685
93	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.70167920
94	negative regulation of cAMP-mediated signaling (GO:0043951)	2.70044065
95	pyrimidine nucleotide biosynthetic process (GO:0006221)	2.68936377
96	maturation of 5.8S rRNA (GO:0000460)	2.66658684
97	pattern specification involved in kidney development (GO:0061004)	2.65125188
98	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.65095640
99	positive regulation of potassium ion transmembrane transport (GO:1901381)	2.65003524
100	intracellular protein transmembrane import (GO:0044743)	2.64476539

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.09521112
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.86861908
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.40390779
4	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.20915233
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.10572163
6	VDR_22108803_ChIP-Seq_LS180_Human	2.98656770
7	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.83602137
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.81485855
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.74544152
10	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.71180746
11	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.61395053
12	ZNF274_21170338_ChIP-Seq_K562_Hela	2.54832719
13	EZH2_22144423_ChIP-Seq_EOC_Human	2.16946884
14	IRF1_19129219_ChIP-ChIP_H3396_Human	2.08737398
15	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.01902441
16	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.01297327
17	IGF1R_20145208_ChIP-Seq_DFB_Human	1.93347560
18	TTF2_22483619_ChIP-Seq_HELA_Human	1.90755725
19	VDR_23849224_ChIP-Seq_CD4+_Human	1.81970060
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.79652996
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.77779985
22	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.76123622
23	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.71816134
24	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.66660818
25	GABP_19822575_ChIP-Seq_HepG2_Human	1.65180020
26	XRN2_22483619_ChIP-Seq_HELA_Human	1.59702637
27	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.58242784
28	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.55974342
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.53764352
30	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.53394987
31	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.50898752
32	FOXP3_21729870_ChIP-Seq_TREG_Human	1.50864551
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.49712130
34	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.47473307
35	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.47314200
36	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.43875787
37	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.40078340
38	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.39580982
39	EWS_26573619_Chip-Seq_HEK293_Human	1.38707057
40	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.37930216
41	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.36853655
42	ERA_21632823_ChIP-Seq_H3396_Human	1.35756744
43	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.35200790
44	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.33192323
45	NCOR_22424771_ChIP-Seq_293T_Human	1.32018794
46	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.30975334
47	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.30702663
48	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.29779617
49	STAT1_20625510_ChIP-Seq_HELA_Human	1.29365324
50	TAF2_19829295_ChIP-Seq_ESCs_Human	1.29029956
51	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.27893245
52	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.27440056
53	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.25487873
54	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.23648845
55	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.22836828
56	REST_21632747_ChIP-Seq_MESCs_Mouse	1.22636031
57	SA1_27219007_Chip-Seq_Bcells_Human	1.19884317
58	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.16011452
59	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.15847305
60	HOXB7_26014856_ChIP-Seq_BT474_Human	1.15069958
61	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.11914618
62	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.11914618
63	ELK1_19687146_ChIP-ChIP_HELA_Human	1.11672540
64	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.10925531
65	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.10005833
66	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.09584546
67	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.08136100
68	KDM5A_27292631_Chip-Seq_BREAST_Human	1.06827626
69	P53_21459846_ChIP-Seq_SAOS-2_Human	1.06753509
70	NANOG_20526341_ChIP-Seq_ESCs_Human	1.06608861
71	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.06050096
72	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.02096770
73	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.02023779
74	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.01248676
75	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.99946290
76	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.99048891
77	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.99026753
78	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.98978273
79	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.97416332
80	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.96011111
81	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.95936886
82	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.95594807
83	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.94899866
84	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.92208926
85	GATA3_21867929_ChIP-Seq_TH1_Mouse	0.91526444
86	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91130269
87	CTCF_20526341_ChIP-Seq_ESCs_Human	0.89388030
88	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.89305477
89	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.89218968
90	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.88410076
91	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.88218815
92	SRY_22984422_ChIP-ChIP_TESTIS_Rat	0.88204035
93	SOX2_19829295_ChIP-Seq_ESCs_Human	0.87754354
94	NANOG_19829295_ChIP-Seq_ESCs_Human	0.87754354
95	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.87116317
96	RNF2_27304074_Chip-Seq_NSC_Mouse	0.87084380
97	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.86750047
98	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.85915751
99	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.85325070
100	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.85149412

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	4.86336678
2	MP0002163_abnormal_gland_morphology	4.05243183
3	MP0003646_muscle_fatigue	3.73572234
4	MP0006292_abnormal_olfactory_placode	3.71058342
5	MP0008877_abnormal_DNA_methylation	3.18292938
6	MP0003787_abnormal_imprinting	2.51310544
7	MP0002638_abnormal_pupillary_reflex	2.47085054
8	MP0003122_maternal_imprinting	2.46238421
9	MP0005379_endocrine/exocrine_gland_phen	2.39870279
10	MP0004145_abnormal_muscle_electrophysio	2.24016242
11	MP0002876_abnormal_thyroid_physiology	1.99831972
12	MP0004142_abnormal_muscle_tone	1.94845110
13	MP0002102_abnormal_ear_morphology	1.89172192
14	MP0005645_abnormal_hypothalamus_physiol	1.88674522
15	MP0005646_abnormal_pituitary_gland	1.85685032
16	MP0002837_dystrophic_cardiac_calcinosis	1.84868030
17	MP0008058_abnormal_DNA_repair	1.81926236
18	MP0003183_abnormal_peptide_metabolism	1.79396861
19	MP0003786_premature_aging	1.77915196
20	MP0005551_abnormal_eye_electrophysiolog	1.74707616
21	MP0008789_abnormal_olfactory_epithelium	1.61101567
22	MP0005084_abnormal_gallbladder_morpholo	1.58382338
23	MP0001986_abnormal_taste_sensitivity	1.52889874
24	MP0002653_abnormal_ependyma_morphology	1.52267633
25	MP0008872_abnormal_physiological_respon	1.49319016
26	MP0001968_abnormal_touch/_nociception	1.48994002
27	MP0004147_increased_porphyrin_level	1.48074346
28	MP0004742_abnormal_vestibular_system	1.44378062
29	MP0003567_abnormal_fetal_cardiomyocyte	1.43542037
30	MP0009745_abnormal_behavioral_response	1.43502185
31	MP0002160_abnormal_reproductive_system	1.41922818
32	MP0003136_yellow_coat_color	1.39106396
33	MP0002733_abnormal_thermal_nociception	1.35095007
34	MP0002938_white_spotting	1.34861224
35	MP0003121_genomic_imprinting	1.34317696
36	MP0001485_abnormal_pinna_reflex	1.33347068
37	MP0000049_abnormal_middle_ear	1.32692201
38	MP0000631_abnormal_neuroendocrine_gland	1.27387076
39	MP0005389_reproductive_system_phenotype	1.25764653
40	MP0006036_abnormal_mitochondrial_physio	1.24590860
41	MP0004885_abnormal_endolymph	1.21768623
42	MP0001502_abnormal_circadian_rhythm	1.20852608
43	MP0003123_paternal_imprinting	1.20572570
44	MP0001970_abnormal_pain_threshold	1.20029857
45	MP0001348_abnormal_lacrimal_gland	1.19359813
46	MP0002272_abnormal_nervous_system	1.18722166
47	MP0003693_abnormal_embryo_hatching	1.18231464
48	MP0003936_abnormal_reproductive_system	1.17919680
49	MP0005499_abnormal_olfactory_system	1.16443906
50	MP0005394_taste/olfaction_phenotype	1.16443906
51	MP0003937_abnormal_limbs/digits/tail_de	1.15549301
52	MP0001293_anophthalmia	1.14213740
53	MP0000427_abnormal_hair_cycle	1.13929621
54	MP0006072_abnormal_retinal_apoptosis	1.13278502
55	MP0003878_abnormal_ear_physiology	1.10138258
56	MP0005377_hearing/vestibular/ear_phenot	1.10138258
57	MP0003011_delayed_dark_adaptation	1.09796330
58	MP0003938_abnormal_ear_development	1.09420701
59	MP0006035_abnormal_mitochondrial_morpho	1.05710451
60	MP0003941_abnormal_skin_development	1.04470647
61	MP0002138_abnormal_hepatobiliary_system	1.03462723
62	MP0005360_urolithiasis	1.01458892
63	MP0008775_abnormal_heart_ventricle	0.98824240
64	MP0004381_abnormal_hair_follicle	0.96845606
65	MP0001919_abnormal_reproductive_system	0.94942009
66	MP0004130_abnormal_muscle_cell	0.94825147
67	MP0002064_seizures	0.94601697
68	MP0004133_heterotaxia	0.94536476
69	MP0002735_abnormal_chemical_nociception	0.92345364
70	MP0005332_abnormal_amino_acid	0.90004680
71	MP0005670_abnormal_white_adipose	0.89140103
72	MP0004043_abnormal_pH_regulation	0.88142793
73	MP0000372_irregular_coat_pigmentation	0.87076866
74	MP0002210_abnormal_sex_determination	0.82830824
75	MP0002095_abnormal_skin_pigmentation	0.81818411
76	MP0000026_abnormal_inner_ear	0.80446044
77	MP0001984_abnormal_olfaction	0.80349228
78	MP0009046_muscle_twitch	0.79177183
79	MP0005387_immune_system_phenotype	0.78507131
80	MP0001790_abnormal_immune_system	0.78507131
81	MP0005195_abnormal_posterior_eye	0.78338891
82	MP0003638_abnormal_response/metabolism_	0.78224171
83	MP0009780_abnormal_chondrocyte_physiolo	0.77609617
84	MP0003718_maternal_effect	0.77387735
85	MP0003959_abnormal_lean_body	0.76659336
86	MP0009384_cardiac_valve_regurgitation	0.76657202
87	MP0001440_abnormal_grooming_behavior	0.76326043
88	MP0002063_abnormal_learning/memory/cond	0.75583597
89	MP0004858_abnormal_nervous_system	0.75310699
90	MP0002229_neurodegeneration	0.73993326
91	MP0003879_abnormal_hair_cell	0.73051677
92	MP0000778_abnormal_nervous_system	0.72837953
93	MP0003186_abnormal_redox_activity	0.72564032
94	MP0001873_stomach_inflammation	0.72217650
95	MP0001905_abnormal_dopamine_level	0.72032906
96	MP0002557_abnormal_social/conspecific_i	0.71880298
97	MP0002752_abnormal_somatic_nervous	0.70987263
98	MP0003635_abnormal_synaptic_transmissio	0.70984163
99	MP0001764_abnormal_homeostasis	0.70389253
100	MP0001881_abnormal_mammary_gland	0.69413303

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Reticulocytopenia (HP:0001896)	4.21336834
2	Acute necrotizing encephalopathy (HP:0006965)	4.19473390
3	Abnormality of DNA repair (HP:0003254)	3.78606803
4	Abnormality of cells of the erythroid lineage (HP:0012130)	3.72216326
5	Abnormal mitochondria in muscle tissue (HP:0008316)	3.63815763
6	Progressive macrocephaly (HP:0004481)	3.41311526
7	Mitochondrial inheritance (HP:0001427)	3.39538688
8	Acute encephalopathy (HP:0006846)	3.35250940
9	Increased CSF lactate (HP:0002490)	3.30710669
10	Pancreatic fibrosis (HP:0100732)	3.24059349
11	Pendular nystagmus (HP:0012043)	3.14467528
12	Hyperalaninemia (HP:0003348)	3.12912902
13	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.12912902
14	Abnormality of alanine metabolism (HP:0010916)	3.12912902
15	Poikiloderma (HP:0001029)	3.12688166
16	Entropion (HP:0000621)	3.09268170
17	Macrocytic anemia (HP:0001972)	3.06756988
18	Congenital stationary night blindness (HP:0007642)	2.99956988
19	Abnormal pupillary function (HP:0007686)	2.87039045
20	Pancreatic cysts (HP:0001737)	2.81628618
21	Abnormal number of erythroid precursors (HP:0012131)	2.80843335
22	Molar tooth sign on MRI (HP:0002419)	2.76977589
23	Abnormality of midbrain morphology (HP:0002418)	2.76977589
24	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.76875113
25	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.71100629
26	Hepatocellular necrosis (HP:0001404)	2.60154196
27	Agitation (HP:0000713)	2.60151389
28	Hyperthyroidism (HP:0000836)	2.58428983
29	Increased serum lactate (HP:0002151)	2.57439054
30	Optic disc pallor (HP:0000543)	2.56456996
31	Septo-optic dysplasia (HP:0100842)	2.51950090
32	Cerebral edema (HP:0002181)	2.51407489
33	Increased hepatocellular lipid droplets (HP:0006565)	2.48268424
34	Hyperglycinemia (HP:0002154)	2.47696288
35	Supernumerary spleens (HP:0009799)	2.46303448
36	3-Methylglutaconic aciduria (HP:0003535)	2.46185852
37	Increased intramyocellular lipid droplets (HP:0012240)	2.43809622
38	Asplenia (HP:0001746)	2.43279619
39	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.40654952
40	Hepatic necrosis (HP:0002605)	2.39756545
41	Lipid accumulation in hepatocytes (HP:0006561)	2.37926088
42	Abnormal rod and cone electroretinograms (HP:0008323)	2.27920908
43	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.25872637
44	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.25872637
45	Anencephaly (HP:0002323)	2.25742692
46	True hermaphroditism (HP:0010459)	2.25279053
47	Pallor (HP:0000980)	2.24087628
48	Nephronophthisis (HP:0000090)	2.23863933
49	Absent thumb (HP:0009777)	2.23608675
50	Synostosis of carpal bones (HP:0005048)	2.23555954
51	Postaxial foot polydactyly (HP:0001830)	2.21210635
52	Chromsome breakage (HP:0040012)	2.18924235
53	Leukodystrophy (HP:0002415)	2.18643161
54	Abnormality of magnesium homeostasis (HP:0004921)	2.17064490
55	Abnormality of the renal cortex (HP:0011035)	2.15452694
56	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.14047879
57	Type II lissencephaly (HP:0007260)	2.13774202
58	Lactic acidosis (HP:0003128)	2.13311712
59	Abnormal biliary tract physiology (HP:0012439)	2.12337565
60	Bile duct proliferation (HP:0001408)	2.12337565
61	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.09796062
62	Exercise intolerance (HP:0003546)	2.09458357
63	Colon cancer (HP:0003003)	2.08886871
64	Increased muscle lipid content (HP:0009058)	2.06158112
65	Hypoplasia of the radius (HP:0002984)	2.04283520
66	Medial flaring of the eyebrow (HP:0010747)	2.03052898
67	Thyroid-stimulating hormone excess (HP:0002925)	2.00442483
68	Abnormal respiratory epithelium morphology (HP:0012253)	1.97724920
69	Abnormal respiratory motile cilium morphology (HP:0005938)	1.97724920
70	Lethargy (HP:0001254)	1.97356577
71	Confusion (HP:0001289)	1.92394138
72	Methylmalonic aciduria (HP:0012120)	1.90981224
73	Stenosis of the external auditory canal (HP:0000402)	1.88407177
74	Gait imbalance (HP:0002141)	1.86817841
75	Abnormality of the renal medulla (HP:0100957)	1.85287641
76	Abnormality of the renal collecting system (HP:0004742)	1.85091966
77	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.83122681
78	Increased serum pyruvate (HP:0003542)	1.80324486
79	Respiratory failure (HP:0002878)	1.79972644
80	Tubular atrophy (HP:0000092)	1.79095179
81	Methylmalonic acidemia (HP:0002912)	1.78237772
82	Sclerocornea (HP:0000647)	1.77834550
83	Abnormality of serum amino acid levels (HP:0003112)	1.77075487
84	Partial agenesis of the corpus callosum (HP:0001338)	1.75092381
85	Carpal synostosis (HP:0009702)	1.75083354
86	Rib fusion (HP:0000902)	1.74011813
87	Cleft eyelid (HP:0000625)	1.73373801
88	Birth length less than 3rd percentile (HP:0003561)	1.72463682
89	Hyperphosphatemia (HP:0002905)	1.70470110
90	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.70250212
91	Congenital primary aphakia (HP:0007707)	1.69933114
92	Duplicated collecting system (HP:0000081)	1.68465095
93	Hypoplasia of the ulna (HP:0003022)	1.67631668
94	Abnormal drinking behavior (HP:0030082)	1.66548312
95	Polydipsia (HP:0001959)	1.66548312
96	Hypoplasia of the pons (HP:0012110)	1.65072021
97	Constricted visual fields (HP:0001133)	1.64170211
98	Abnormality of the pons (HP:0007361)	1.64056922
99	Synostosis involving bones of the hand (HP:0004278)	1.63730253
100	Breast hypoplasia (HP:0003187)	1.63547139

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	4.99331981
2	TXK	3.16027487
3	ADRBK2	2.89862607
4	PIK3CA	2.48809429
5	PDK2	2.35281640
6	DYRK2	2.34226660
7	WNK4	2.32213287
8	NUAK1	2.16391981
9	CAMKK2	2.14536918
10	BMPR1B	2.13437105
11	GRK1	2.08154109
12	VRK2	1.88780189
13	PINK1	1.83523860
14	FRK	1.81269271
15	CDK19	1.66197177
16	MAP4K1	1.64469094
17	LIMK1	1.59474745
18	PHKG2	1.54074307
19	PHKG1	1.54074307
20	MAP4K2	1.51047884
21	ZAK	1.48986943
22	NEK1	1.42438614
23	TNIK	1.42237326
24	OBSCN	1.38366948
25	TLK1	1.29922449
26	TIE1	1.28912282
27	TAOK3	1.28857305
28	VRK1	1.28441137
29	ADRBK1	1.14815412
30	PRKCG	1.10788224
31	TGFBR1	1.09752024
32	MAP3K9	1.08733862
33	STK39	1.07975545
34	ACVR1B	1.04448538
35	PAK3	1.04332608
36	CDK8	1.03506095
37	BUB1	1.02758863
38	LRRK2	0.98140659
39	MAP2K7	0.96101778
40	AURKA	0.95857575
41	TAF1	0.94779556
42	NME2	0.93380585
43	CAMK1D	0.92820224
44	MAP3K12	0.91197533
45	STK38L	0.90488533
46	CAMK1	0.89838261
47	DYRK3	0.87220603
48	EPHB2	0.87048932
49	NME1	0.86820788
50	PLK1	0.85662686
51	MAP3K11	0.83245353
52	IKBKB	0.81027814
53	CDC7	0.79406052
54	OXSR1	0.77110969
55	MAPK12	0.76460680
56	MARK2	0.76353962
57	PRKCI	0.71797192
58	PRKCQ	0.70786515
59	STK24	0.70386679
60	WNK3	0.69997589
61	AURKB	0.69105369
62	DAPK3	0.66494217
63	STK11	0.65453498
64	CSNK2A2	0.64192731
65	PIM2	0.63508258
66	CAMK1G	0.62940913
67	GRK7	0.62165822
68	BRSK2	0.59872303
69	ATR	0.59591358
70	PASK	0.56587592
71	PRKACA	0.56024681
72	CSNK2A1	0.55252280
73	ILK	0.54618685
74	MAP2K6	0.53915663
75	CAMKK1	0.52860950
76	ABL2	0.51952027
77	MAPKAPK5	0.51334281
78	STK3	0.50257012
79	DMPK	0.50144957
80	BCKDK	0.50021579
81	TSSK6	0.49841079
82	PNCK	0.49493041
83	BRSK1	0.48899799
84	PRKAA2	0.47985460
85	NLK	0.47887246
86	TRIM28	0.47606884
87	MAP2K4	0.47005031
88	CSNK1A1	0.45788906
89	MELK	0.43568711
90	PLK4	0.43450357
91	CAMK2A	0.43255115
92	BLK	0.41997551
93	SGK1	0.41997069
94	PIM1	0.40290247
95	PRKCE	0.40245805
96	AKT2	0.40241867
97	RPS6KB1	0.40211631
98	PRKCA	0.40070831
99	ITK	0.39633586
100	PLK3	0.39418697

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	5.96422262
2	Oxidative phosphorylation_Homo sapiens_hsa00190	4.10284693
3	Parkinsons disease_Homo sapiens_hsa05012	3.40406437
4	Huntingtons disease_Homo sapiens_hsa05016	2.55975778
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.55714089
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.53610745
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.40736869
8	Nucleotide excision repair_Homo sapiens_hsa03420	2.35377721
9	DNA replication_Homo sapiens_hsa03030	2.27110101
10	Alzheimers disease_Homo sapiens_hsa05010	2.23914919
11	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.18763854
12	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.18184115
13	Sulfur relay system_Homo sapiens_hsa04122	2.07697760
14	Mismatch repair_Homo sapiens_hsa03430	1.95593244
15	Homologous recombination_Homo sapiens_hsa03440	1.95574267
16	RNA degradation_Homo sapiens_hsa03018	1.92825037
17	Basal transcription factors_Homo sapiens_hsa03022	1.65580049
18	Fanconi anemia pathway_Homo sapiens_hsa03460	1.62747442
19	Sulfur metabolism_Homo sapiens_hsa00920	1.60870490
20	RNA polymerase_Homo sapiens_hsa03020	1.57175019
21	Pyrimidine metabolism_Homo sapiens_hsa00240	1.52671421
22	Protein export_Homo sapiens_hsa03060	1.51423595
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.35394945
24	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.31445459
25	Base excision repair_Homo sapiens_hsa03410	1.30257129
26	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.28155562
27	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.25279120
28	Nitrogen metabolism_Homo sapiens_hsa00910	1.23663255
29	Tryptophan metabolism_Homo sapiens_hsa00380	1.20506025
30	One carbon pool by folate_Homo sapiens_hsa00670	1.20396084
31	Phototransduction_Homo sapiens_hsa04744	1.13149250
32	RNA transport_Homo sapiens_hsa03013	1.12827221
33	Pyruvate metabolism_Homo sapiens_hsa00620	1.12062430
34	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.11719624
35	Propanoate metabolism_Homo sapiens_hsa00640	1.09389300
36	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.08271092
37	Olfactory transduction_Homo sapiens_hsa04740	1.07593452
38	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.02951024
39	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.02934532
40	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.02421087
41	Purine metabolism_Homo sapiens_hsa00230	0.99447685
42	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.98758073
43	Peroxisome_Homo sapiens_hsa04146	0.97969542
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.97273943
45	Nicotine addiction_Homo sapiens_hsa05033	0.96781296
46	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.96229860
47	Selenocompound metabolism_Homo sapiens_hsa00450	0.95418254
48	Proteasome_Homo sapiens_hsa03050	0.95000047
49	Collecting duct acid secretion_Homo sapiens_hsa04966	0.93512534
50	Butanoate metabolism_Homo sapiens_hsa00650	0.93442717
51	Non-homologous end-joining_Homo sapiens_hsa03450	0.82926295
52	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.82282135
53	Morphine addiction_Homo sapiens_hsa05032	0.79026886
54	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.77598832
55	Fat digestion and absorption_Homo sapiens_hsa04975	0.77259685
56	Metabolic pathways_Homo sapiens_hsa01100	0.75646425
57	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.66046901
58	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.63627324
59	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.62203893
60	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.60492252
61	Arginine and proline metabolism_Homo sapiens_hsa00330	0.59340985
62	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.58583794
63	Glycerolipid metabolism_Homo sapiens_hsa00561	0.58439809
64	Fatty acid elongation_Homo sapiens_hsa00062	0.58094548
65	Primary immunodeficiency_Homo sapiens_hsa05340	0.58064744
66	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.56171990
67	Fatty acid degradation_Homo sapiens_hsa00071	0.55399048
68	Spliceosome_Homo sapiens_hsa03040	0.55316177
69	Ether lipid metabolism_Homo sapiens_hsa00565	0.51105591
70	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.50872818
71	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.49447404
72	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.48393328
73	beta-Alanine metabolism_Homo sapiens_hsa00410	0.44670702
74	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.43673352
75	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.43672114
76	Serotonergic synapse_Homo sapiens_hsa04726	0.39949376
77	Chemical carcinogenesis_Homo sapiens_hsa05204	0.37291174
78	Caffeine metabolism_Homo sapiens_hsa00232	0.35578255
79	Steroid biosynthesis_Homo sapiens_hsa00100	0.33986605
80	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.33312961
81	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.33208206
82	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.31673716
83	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.31157541
84	Retinol metabolism_Homo sapiens_hsa00830	0.30355633
85	Fatty acid metabolism_Homo sapiens_hsa01212	0.29541712
86	Folate biosynthesis_Homo sapiens_hsa00790	0.29490690
87	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.28411057
88	Regulation of autophagy_Homo sapiens_hsa04140	0.27104395
89	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.25605608
90	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.25559415
91	Arginine biosynthesis_Homo sapiens_hsa00220	0.25145083
92	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.22973111
93	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.22962770
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.21436254
95	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.21426375
96	Taste transduction_Homo sapiens_hsa04742	0.21344668
97	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.19999745
98	Cholinergic synapse_Homo sapiens_hsa04725	0.19942887
99	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.19615273
100	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.19553525

RPSAP7

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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