ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	5.01591472
2	protein neddylation (GO:0045116)	4.97755724
3	water-soluble vitamin biosynthetic process (GO:0042364)	4.78848570
4	regulation of cilium movement (GO:0003352)	4.60698536
5	tryptophan catabolic process (GO:0006569)	4.29387928
6	indole-containing compound catabolic process (GO:0042436)	4.29387928
7	indolalkylamine catabolic process (GO:0046218)	4.29387928
8	male meiosis (GO:0007140)	4.13882710
9	tachykinin receptor signaling pathway (GO:0007217)	4.10691809
10	tryptophan metabolic process (GO:0006568)	3.95617790
11	kynurenine metabolic process (GO:0070189)	3.94364873
12	DNA methylation involved in gamete generation (GO:0043046)	3.93801848
13	indolalkylamine metabolic process (GO:0006586)	3.90112237
14	axonemal dynein complex assembly (GO:0070286)	3.86008305
15	ribosomal small subunit assembly (GO:0000028)	3.81888890
16	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.75642516
17	short-term memory (GO:0007614)	3.74098072
18	regulation of microtubule-based movement (GO:0060632)	3.72972642
19	negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)	3.72537639
20	multicellular organism reproduction (GO:0032504)	3.72308752
21	DNA deamination (GO:0045006)	3.64676990
22	cellular biogenic amine catabolic process (GO:0042402)	3.62749991
23	amine catabolic process (GO:0009310)	3.62749991
24	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.59125943
25	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.59125943
26	NADH dehydrogenase complex assembly (GO:0010257)	3.59125943
27	male meiosis I (GO:0007141)	3.49431644
28	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.34531829
29	ATP synthesis coupled proton transport (GO:0015986)	3.34531829
30	cilium movement (GO:0003341)	3.30006795
31	regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)	3.24750573
32	aldehyde catabolic process (GO:0046185)	3.20728869
33	synapsis (GO:0007129)	3.19440806
34	protein complex biogenesis (GO:0070271)	3.16926784
35	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.16864727
36	viral transcription (GO:0019083)	3.15178859
37	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.11927249
38	translational termination (GO:0006415)	3.08811791
39	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.06459466
40	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.02883539
41	dendritic cell chemotaxis (GO:0002407)	3.02403161
42	meiosis I (GO:0007127)	2.99185156
43	aromatic amino acid family catabolic process (GO:0009074)	2.99115011
44	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.96267073
45	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.92251314
46	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.90712048
47	mesonephros development (GO:0001823)	2.86686957
48	negative regulation of heart rate (GO:0010459)	2.84603502
49	epithelial cilium movement (GO:0003351)	2.83810361
50	resolution of meiotic recombination intermediates (GO:0000712)	2.83545828
51	maturation of SSU-rRNA (GO:0030490)	2.82583735
52	protein K6-linked ubiquitination (GO:0085020)	2.80749919
53	dendritic cell migration (GO:0036336)	2.79788111
54	replication fork processing (GO:0031297)	2.79373420
55	positive regulation of endothelial cell differentiation (GO:0045603)	2.78978256
56	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.77417022
57	mitochondrial respiratory chain complex assembly (GO:0033108)	2.77022943
58	attachment of spindle microtubules to kinetochore (GO:0008608)	2.75685052
59	behavioral response to nicotine (GO:0035095)	2.73979197
60	positive regulation of histone H3-K4 methylation (GO:0051571)	2.73433749
61	negative regulation of thymocyte apoptotic process (GO:0070244)	2.70860972
62	aromatic amino acid family metabolic process (GO:0009072)	2.70500867
63	translational elongation (GO:0006414)	2.69261212
64	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.67822741
65	detection of light stimulus involved in sensory perception (GO:0050962)	2.67156741
66	detection of light stimulus involved in visual perception (GO:0050908)	2.67156741
67	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.65723929
68	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.65399653
69	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.64682197
70	ribosomal small subunit biogenesis (GO:0042274)	2.64617289
71	anterograde synaptic vesicle transport (GO:0048490)	2.64388165
72	platelet dense granule organization (GO:0060155)	2.64360301
73	indole-containing compound metabolic process (GO:0042430)	2.64158113
74	negative regulation of gene silencing (GO:0060969)	2.61952704
75	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.61054551
76	cotranslational protein targeting to membrane (GO:0006613)	2.61046610
77	heme transport (GO:0015886)	2.61021618
78	regulation of female receptivity (GO:0045924)	2.60645667
79	neural tube formation (GO:0001841)	2.59667521
80	protein targeting to ER (GO:0045047)	2.59393421
81	thrombin receptor signaling pathway (GO:0070493)	2.59066330
82	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.57690105
83	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	2.57388772
84	regulation of hypersensitivity (GO:0002883)	2.55603388
85	cell proliferation in forebrain (GO:0021846)	2.54948036
86	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.54857314
87	negative regulation of appetite (GO:0032099)	2.54208847
88	negative regulation of response to food (GO:0032096)	2.54208847
89	protein localization to endoplasmic reticulum (GO:0070972)	2.53648644
90	telencephalon development (GO:0021537)	2.52716335
91	electron transport chain (GO:0022900)	2.52328858
92	chromosome organization involved in meiosis (GO:0070192)	2.51044658
93	neuron fate determination (GO:0048664)	2.49287110
94	meiotic nuclear division (GO:0007126)	2.48467572
95	respiratory electron transport chain (GO:0022904)	2.47406893
96	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.46328278
97	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.44947496
98	negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)	2.41922376
99	regulation of endothelial cell differentiation (GO:0045601)	2.41674615
100	regulation of T cell receptor signaling pathway (GO:0050856)	2.40666305

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	9.19765862
2	VDR_22108803_ChIP-Seq_LS180_Human	3.29203545
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.25391932
4	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.17880688
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.95351890
6	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.71927525
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.36946978
8	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.35365432
9	IRF1_19129219_ChIP-ChIP_H3396_Human	2.27762957
10	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	2.11617344
11	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.10944127
12	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.05611679
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.02446627
14	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.95149164
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.90738907
16	IGF1R_20145208_ChIP-Seq_DFB_Human	1.88783090
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.87125594
18	FUS_26573619_Chip-Seq_HEK293_Human	1.84123301
19	MYC_18940864_ChIP-ChIP_HL60_Human	1.83126054
20	GBX2_23144817_ChIP-Seq_PC3_Human	1.73267530
21	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.72429867
22	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.71462991
23	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.70682376
24	TAF15_26573619_Chip-Seq_HEK293_Human	1.66489896
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.64320147
26	P300_19829295_ChIP-Seq_ESCs_Human	1.63147901
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.59929511
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.58868078
29	EWS_26573619_Chip-Seq_HEK293_Human	1.58719540
30	RNF2_27304074_Chip-Seq_NSC_Mouse	1.58365483
31	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.55788594
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.49281462
33	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.47451563
34	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.47116844
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.43143706
36	NANOG_19829295_ChIP-Seq_ESCs_Human	1.42485006
37	SOX2_19829295_ChIP-Seq_ESCs_Human	1.42485006
38	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.40966064
39	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.39726999
40	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.37142314
41	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.33505930
42	AR_20517297_ChIP-Seq_VCAP_Human	1.28915377
43	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.28266542
44	CBP_20019798_ChIP-Seq_JUKART_Human	1.28266542
45	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.27032407
46	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.24690888
47	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.23808194
48	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.23808194
49	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.22898400
50	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22828278
51	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.22005880
52	AR_25329375_ChIP-Seq_VCAP_Human	1.21444497
53	VDR_23849224_ChIP-Seq_CD4+_Human	1.20895813
54	HOXB7_26014856_ChIP-Seq_BT474_Human	1.19897897
55	NCOR_22424771_ChIP-Seq_293T_Human	1.19564861
56	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.19206611
57	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.16288586
58	ELK1_19687146_ChIP-ChIP_HELA_Human	1.14729368
59	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.13711987
60	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.10304423
61	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09975461
62	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.09862251
63	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.07999316
64	NANOG_20526341_ChIP-Seq_ESCs_Human	1.07095087
65	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.06390354
66	ER_23166858_ChIP-Seq_MCF-7_Human	1.05416541
67	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.04226460
68	TCF4_22108803_ChIP-Seq_LS180_Human	1.03904450
69	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.03329041
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.03208009
71	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.03208009
72	REST_21632747_ChIP-Seq_MESCs_Mouse	1.02217350
73	RUNX2_22187159_ChIP-Seq_PCA_Human	1.00627141
74	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99276394
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.99145825
76	TAF2_19829295_ChIP-Seq_ESCs_Human	0.98511344
77	FOXP3_21729870_ChIP-Seq_TREG_Human	0.97728098
78	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.96475247
79	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.94805995
80	SMAD4_21799915_ChIP-Seq_A2780_Human	0.93999477
81	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.93499491
82	HTT_18923047_ChIP-ChIP_STHdh_Human	0.92573463
83	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.91792045
84	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91118112
85	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.90832643
86	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.89045893
87	IKZF1_21737484_ChIP-ChIP_HCT116_Human	0.88556171
88	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.88167335
89	TCF4_23295773_ChIP-Seq_U87_Human	0.87472169
90	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.86868751
91	RAC3_21632823_ChIP-Seq_H3396_Human	0.86835978
92	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.86455516
93	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.86397391
94	ERG_20517297_ChIP-Seq_VCAP_Human	0.86115190
95	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.85936716
96	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.85933358
97	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.85651142
98	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.85246861
99	JUN_21703547_ChIP-Seq_K562_Human	0.85148999
100	ERA_21632823_ChIP-Seq_H3396_Human	0.84782836

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	4.06156513
2	MP0008877_abnormal_DNA_methylation	3.99180415
3	MP0002163_abnormal_gland_morphology	3.37143809
4	MP0002653_abnormal_ependyma_morphology	3.16706509
5	MP0003136_yellow_coat_color	2.48519116
6	MP0006276_abnormal_autonomic_nervous	2.39650323
7	MP0000372_irregular_coat_pigmentation	2.27475570
8	MP0005410_abnormal_fertilization	2.19971099
9	MP0005646_abnormal_pituitary_gland	2.12990775
10	MP0005379_endocrine/exocrine_gland_phen	2.09685000
11	MP0008872_abnormal_physiological_respon	2.07514075
12	MP0002102_abnormal_ear_morphology	2.02496241
13	MP0005551_abnormal_eye_electrophysiolog	1.98195100
14	MP0008789_abnormal_olfactory_epithelium	1.92528474
15	MP0008875_abnormal_xenobiotic_pharmacok	1.92240628
16	MP0002733_abnormal_thermal_nociception	1.89846899
17	MP0003879_abnormal_hair_cell	1.83781860
18	MP0002736_abnormal_nociception_after	1.82735274
19	MP0003950_abnormal_plasma_membrane	1.77663754
20	MP0003122_maternal_imprinting	1.75641596
21	MP0002837_dystrophic_cardiac_calcinosis	1.75591087
22	MP0002160_abnormal_reproductive_system	1.74054790
23	MP0001968_abnormal_touch/_nociception	1.68116422
24	MP0008058_abnormal_DNA_repair	1.63516991
25	MP0002272_abnormal_nervous_system	1.59501552
26	MP0005084_abnormal_gallbladder_morpholo	1.57091846
27	MP0009379_abnormal_foot_pigmentation	1.50156199
28	MP0004142_abnormal_muscle_tone	1.47702477
29	MP0002210_abnormal_sex_determination	1.46313280
30	MP0009745_abnormal_behavioral_response	1.45208721
31	MP0001970_abnormal_pain_threshold	1.44996166
32	MP0003011_delayed_dark_adaptation	1.44974834
33	MP0004858_abnormal_nervous_system	1.44128903
34	MP0005499_abnormal_olfactory_system	1.41701709
35	MP0005394_taste/olfaction_phenotype	1.41701709
36	MP0009764_decreased_sensitivity_to	1.38326954
37	MP0003646_muscle_fatigue	1.37091674
38	MP0005389_reproductive_system_phenotype	1.36729156
39	MP0005464_abnormal_platelet_physiology	1.30326078
40	MP0001929_abnormal_gametogenesis	1.29199039
41	MP0003866_abnormal_defecation	1.28320655
42	MP0000230_abnormal_systemic_arterial	1.26107092
43	MP0003787_abnormal_imprinting	1.24740046
44	MP0004145_abnormal_muscle_electrophysio	1.22034831
45	MP0003638_abnormal_response/metabolism_	1.21254360
46	MP0008775_abnormal_heart_ventricle	1.18031209
47	MP0003718_maternal_effect	1.17886122
48	MP0006036_abnormal_mitochondrial_physio	1.16434701
49	MP0005195_abnormal_posterior_eye	1.15229231
50	MP0003121_genomic_imprinting	1.14679546
51	MP0000653_abnormal_sex_gland	1.14283570
52	MP0005174_abnormal_tail_pigmentation	1.13876304
53	MP0002638_abnormal_pupillary_reflex	1.13176132
54	MP0002148_abnormal_hypersensitivity_rea	1.12100654
55	MP0009046_muscle_twitch	1.11858932
56	MP0000427_abnormal_hair_cycle	1.10700497
57	MP0003724_increased_susceptibility_to	1.10672778
58	MP0005645_abnormal_hypothalamus_physiol	1.09913514
59	MP0002557_abnormal_social/conspecific_i	1.08838991
60	MP0001986_abnormal_taste_sensitivity	1.08374797
61	MP0003698_abnormal_male_reproductive	1.07858636
62	MP0004885_abnormal_endolymph	1.03956759
63	MP0003183_abnormal_peptide_metabolism	1.02943288
64	MP0001145_abnormal_male_reproductive	1.02517589
65	MP0001905_abnormal_dopamine_level	1.00017916
66	MP0001835_abnormal_antigen_presentation	0.96571053
67	MP0002095_abnormal_skin_pigmentation	0.94231423
68	MP0002752_abnormal_somatic_nervous	0.93831999
69	MP0001501_abnormal_sleep_pattern	0.92456569
70	MP0005075_abnormal_melanosome_morpholog	0.92099512
71	MP0001324_abnormal_eye_pigmentation	0.91433379
72	MP0000613_abnormal_salivary_gland	0.91336699
73	MP0005253_abnormal_eye_physiology	0.90381015
74	MP0005085_abnormal_gallbladder_physiolo	0.88895217
75	MP0003635_abnormal_synaptic_transmissio	0.88644352
76	MP0001542_abnormal_bone_strength	0.87310587
77	MP0001919_abnormal_reproductive_system	0.87053237
78	MP0003186_abnormal_redox_activity	0.86796683
79	MP0005332_abnormal_amino_acid	0.86375676
80	MP0001119_abnormal_female_reproductive	0.85643561
81	MP0002063_abnormal_learning/memory/cond	0.85585117
82	MP0004381_abnormal_hair_follicle	0.85130131
83	MP0003195_calcinosis	0.83677078
84	MP0002234_abnormal_pharynx_morphology	0.82236577
85	MP0000049_abnormal_middle_ear	0.81825637
86	MP0002184_abnormal_innervation	0.81705006
87	MP0001800_abnormal_humoral_immune	0.80345921
88	MP0001984_abnormal_olfaction	0.78734080
89	MP0003806_abnormal_nucleotide_metabolis	0.77942588
90	MP0005377_hearing/vestibular/ear_phenot	0.77352382
91	MP0003878_abnormal_ear_physiology	0.77352382
92	MP0006035_abnormal_mitochondrial_morpho	0.77080784
93	MP0001293_anophthalmia	0.76779010
94	MP0002229_neurodegeneration	0.76725146
95	MP0002572_abnormal_emotion/affect_behav	0.76564453
96	MP0010386_abnormal_urinary_bladder	0.75574284
97	MP0000778_abnormal_nervous_system	0.74603416
98	MP0001963_abnormal_hearing_physiology	0.72262153
99	MP0000631_abnormal_neuroendocrine_gland	0.71002052
100	MP0005535_abnormal_body_temperature	0.69988583

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal ciliary motility (HP:0012262)	4.89474882
2	Acute necrotizing encephalopathy (HP:0006965)	4.29704446
3	Methylmalonic acidemia (HP:0002912)	3.82064108
4	Abnormal mitochondria in muscle tissue (HP:0008316)	3.81939023
5	Pancreatic fibrosis (HP:0100732)	3.78023759
6	Acute encephalopathy (HP:0006846)	3.54365633
7	Abnormal respiratory motile cilium physiology (HP:0012261)	3.51155065
8	Pancreatic cysts (HP:0001737)	3.47004779
9	Progressive macrocephaly (HP:0004481)	3.41800144
10	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.37189969
11	Absent/shortened dynein arms (HP:0200106)	3.37189969
12	Congenital stationary night blindness (HP:0007642)	3.16225985
13	Mitochondrial inheritance (HP:0001427)	3.13364955
14	Short tibia (HP:0005736)	3.08663568
15	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.05551126
16	True hermaphroditism (HP:0010459)	3.04822533
17	Renal cortical cysts (HP:0000803)	3.03767839
18	Methylmalonic aciduria (HP:0012120)	2.98104192
19	Absent thumb (HP:0009777)	2.96116933
20	Abnormality of lateral ventricle (HP:0030047)	2.95972632
21	Increased CSF lactate (HP:0002490)	2.90748442
22	Hyperglycinemia (HP:0002154)	2.83886451
23	Medial flaring of the eyebrow (HP:0010747)	2.83125620
24	Abnormality of the renal cortex (HP:0011035)	2.81948440
25	Hepatic necrosis (HP:0002605)	2.81206251
26	Abnormality of the labia minora (HP:0012880)	2.80848152
27	Abnormal respiratory epithelium morphology (HP:0012253)	2.80529628
28	Abnormal respiratory motile cilium morphology (HP:0005938)	2.80529628
29	Molar tooth sign on MRI (HP:0002419)	2.77207158
30	Abnormality of midbrain morphology (HP:0002418)	2.77207158
31	Hepatocellular necrosis (HP:0001404)	2.68383499
32	Nephronophthisis (HP:0000090)	2.62596885
33	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.59113165
34	Impulsivity (HP:0100710)	2.57796611
35	Macrocytic anemia (HP:0001972)	2.56043610
36	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.55952334
37	Asplenia (HP:0001746)	2.54373350
38	Cerebral edema (HP:0002181)	2.51862843
39	Abnormality of cells of the erythroid lineage (HP:0012130)	2.50120011
40	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.49063732
41	Oligodactyly (hands) (HP:0001180)	2.46530341
42	3-Methylglutaconic aciduria (HP:0003535)	2.45900101
43	Bony spicule pigmentary retinopathy (HP:0007737)	2.45223750
44	Abnormal rod and cone electroretinograms (HP:0008323)	2.40601058
45	Abnormality of vitamin B metabolism (HP:0004340)	2.40500876
46	Supernumerary ribs (HP:0005815)	2.39800668
47	Supernumerary bones of the axial skeleton (HP:0009144)	2.35925891
48	Optic disc pallor (HP:0000543)	2.35366880
49	Decreased central vision (HP:0007663)	2.28865975
50	Supernumerary spleens (HP:0009799)	2.20988446
51	Sclerocornea (HP:0000647)	2.20688197
52	Reticulocytopenia (HP:0001896)	2.20324896
53	Dicarboxylic aciduria (HP:0003215)	2.19792343
54	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.19792343
55	Gait imbalance (HP:0002141)	2.16001543
56	Abnormality of the renal medulla (HP:0100957)	2.14752823
57	Infertility (HP:0000789)	2.14708013
58	Lethargy (HP:0001254)	2.12903831
59	Abnormality of renal resorption (HP:0011038)	2.10692320
60	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.09689980
61	Hypoplasia of the fovea (HP:0007750)	2.09689980
62	Increased serum lactate (HP:0002151)	2.06743610
63	Cystic liver disease (HP:0006706)	2.06397995
64	Lactic acidosis (HP:0003128)	2.06333499
65	Inability to walk (HP:0002540)	2.05148077
66	Male pseudohermaphroditism (HP:0000037)	2.04753229
67	Myokymia (HP:0002411)	2.02893829
68	Generalized aminoaciduria (HP:0002909)	2.01674378
69	Stenosis of the external auditory canal (HP:0000402)	2.01558332
70	Congenital primary aphakia (HP:0007707)	1.98670572
71	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.98445314
72	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.96932475
73	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.96932475
74	Hypoplastic iliac wings (HP:0002866)	1.94270912
75	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.93502645
76	Abnormality of alanine metabolism (HP:0010916)	1.93502645
77	Hyperalaninemia (HP:0003348)	1.93502645
78	Parakeratosis (HP:0001036)	1.93197198
79	Type 2 muscle fiber atrophy (HP:0003554)	1.92903475
80	Agitation (HP:0000713)	1.92567864
81	Colon cancer (HP:0003003)	1.90571010
82	Lipid accumulation in hepatocytes (HP:0006561)	1.89455062
83	Elevated erythrocyte sedimentation rate (HP:0003565)	1.88067065
84	Optic nerve hypoplasia (HP:0000609)	1.84153289
85	Stomatitis (HP:0010280)	1.83830810
86	Prolonged bleeding time (HP:0003010)	1.82449981
87	Leukodystrophy (HP:0002415)	1.82302826
88	Menorrhagia (HP:0000132)	1.81546880
89	Abnormality of the nasal septum (HP:0000419)	1.81254177
90	Increased IgM level (HP:0003496)	1.79991888
91	Abnormal number of erythroid precursors (HP:0012131)	1.79940470
92	Renal Fanconi syndrome (HP:0001994)	1.79834120
93	Nephrogenic diabetes insipidus (HP:0009806)	1.79045680
94	Conical tooth (HP:0000698)	1.76759509
95	Abolished electroretinogram (ERG) (HP:0000550)	1.76378430
96	Median cleft lip (HP:0000161)	1.76214842
97	X-linked dominant inheritance (HP:0001423)	1.75138845
98	Constricted visual fields (HP:0001133)	1.74177622
99	Septo-optic dysplasia (HP:0100842)	1.73372403
100	IgG deficiency (HP:0004315)	1.73217330

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	6.27077649
2	NEK1	5.93747698
3	TRIM28	3.35132993
4	GRK5	2.38741939
5	ADRBK2	2.21083458
6	NUAK1	2.16849047
7	ZAK	2.15918588
8	GRK1	2.13047127
9	MAP4K2	2.00123046
10	WNK4	1.84949149
11	STK16	1.75073648
12	NEK2	1.63029085
13	EIF2AK1	1.60006852
14	BRAF	1.56251776
15	PHKG1	1.51657565
16	PHKG2	1.51657565
17	DYRK2	1.50981655
18	PLK4	1.50335790
19	STK39	1.48123304
20	DAPK1	1.46711290
21	MAPKAPK3	1.46123161
22	FRK	1.38762918
23	TLK1	1.33411384
24	MAP2K2	1.29392646
25	MAPK13	1.27861865
26	STK3	1.27561269
27	MST4	1.23469451
28	VRK2	1.18514261
29	OXSR1	1.14927134
30	PRKCG	1.12363410
31	TEC	1.10862995
32	VRK1	1.09683287
33	EPHB1	1.09268051
34	TNIK	1.03476493
35	BUB1	1.02312627
36	IKBKB	1.00055461
37	GRK6	0.98198754
38	BCKDK	0.97999121
39	PINK1	0.97168434
40	EIF2AK3	0.89358576
41	TYRO3	0.86877133
42	PLK2	0.84997341
43	ACVR1B	0.84088401
44	STK38L	0.79712581
45	BMPR1B	0.79534287
46	PRKCQ	0.77672399
47	TNK2	0.75590552
48	MAP3K12	0.71882752
49	FES	0.71530966
50	ADRBK1	0.65512258
51	AURKA	0.64924854
52	ITK	0.63581790
53	MYLK	0.62443841
54	CSNK1A1	0.62322089
55	CDC7	0.59460465
56	CHEK2	0.58281328
57	PLK3	0.57674916
58	MAPKAPK5	0.55968017
59	RPS6KA4	0.55322219
60	CSNK1G2	0.54055233
61	MKNK2	0.52855287
62	CAMK2A	0.52670590
63	RIPK4	0.52153655
64	PIM1	0.51150036
65	RPS6KA5	0.50863176
66	SGK2	0.50393842
67	SGK223	0.49253921
68	SGK494	0.49253921
69	SYK	0.48824471
70	INSRR	0.48591043
71	MINK1	0.45967198
72	AURKB	0.45239217
73	PRKACA	0.44345506
74	PIK3CA	0.44094894
75	AKT3	0.43219596
76	PKN1	0.43214677
77	CAMK4	0.42822479
78	CSNK2A2	0.42411816
79	BTK	0.42207020
80	KIT	0.41584663
81	BMPR2	0.40982139
82	WNK3	0.39997045
83	PRKG1	0.39844765
84	DAPK3	0.39736699
85	PRKCD	0.39030112
86	PRKCI	0.38745833
87	PRKACB	0.36782784
88	SGK1	0.36058050
89	MKNK1	0.35551842
90	IGF1R	0.34494840
91	CSNK1E	0.34328318
92	CSNK2A1	0.32926530
93	TXK	0.31643240
94	PRKCA	0.30731094
95	GRK7	0.30696688
96	CSNK1G3	0.29920001
97	PRKCE	0.29852379
98	PDK2	0.29628864
99	PLK1	0.29390322
100	OBSCN	0.29282563

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	3.31495977
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.84915980
3	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.77121383
4	Parkinsons disease_Homo sapiens_hsa05012	2.67403590
5	Linoleic acid metabolism_Homo sapiens_hsa00591	2.36899405
6	Asthma_Homo sapiens_hsa05310	2.32839583
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.25492419
8	RNA polymerase_Homo sapiens_hsa03020	2.15094242
9	Nitrogen metabolism_Homo sapiens_hsa00910	2.07177514
10	Phototransduction_Homo sapiens_hsa04744	1.92459960
11	RNA degradation_Homo sapiens_hsa03018	1.91640060
12	One carbon pool by folate_Homo sapiens_hsa00670	1.89783091
13	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.87134530
14	Huntingtons disease_Homo sapiens_hsa05016	1.77673554
15	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.76218251
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.74182962
17	Homologous recombination_Homo sapiens_hsa03440	1.72781476
18	Proteasome_Homo sapiens_hsa03050	1.64628946
19	Basal transcription factors_Homo sapiens_hsa03022	1.63138857
20	Sulfur relay system_Homo sapiens_hsa04122	1.58847603
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.56445677
22	Alzheimers disease_Homo sapiens_hsa05010	1.52604672
23	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.52066294
24	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.50643655
25	Mismatch repair_Homo sapiens_hsa03430	1.50069565
26	Protein export_Homo sapiens_hsa03060	1.49025906
27	Chemical carcinogenesis_Homo sapiens_hsa05204	1.48729670
28	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.45219514
29	Caffeine metabolism_Homo sapiens_hsa00232	1.35365389
30	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.31422700
31	Olfactory transduction_Homo sapiens_hsa04740	1.30540030
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.30390423
33	Retinol metabolism_Homo sapiens_hsa00830	1.28336636
34	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.25644420
35	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.25058995
36	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.24537100
37	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.24230496
38	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.22535054
39	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.22411648
40	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.21713573
41	Sulfur metabolism_Homo sapiens_hsa00920	1.17928425
42	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.17509464
43	Allograft rejection_Homo sapiens_hsa05330	1.15335682
44	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.14602361
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.11399369
46	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.08542372
47	Pyrimidine metabolism_Homo sapiens_hsa00240	1.04139416
48	Fat digestion and absorption_Homo sapiens_hsa04975	1.04023676
49	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.03252454
50	Graft-versus-host disease_Homo sapiens_hsa05332	1.02890462
51	Steroid biosynthesis_Homo sapiens_hsa00100	1.02738563
52	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.02485581
53	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.01446873
54	Non-homologous end-joining_Homo sapiens_hsa03450	1.00587056
55	Butanoate metabolism_Homo sapiens_hsa00650	1.00317790
56	DNA replication_Homo sapiens_hsa03030	0.98175027
57	Peroxisome_Homo sapiens_hsa04146	0.97829781
58	Morphine addiction_Homo sapiens_hsa05032	0.97712572
59	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.95910600
60	Ether lipid metabolism_Homo sapiens_hsa00565	0.94656068
61	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.94031234
62	Purine metabolism_Homo sapiens_hsa00230	0.92659314
63	Nicotine addiction_Homo sapiens_hsa05033	0.90689421
64	Taste transduction_Homo sapiens_hsa04742	0.88832803
65	Regulation of autophagy_Homo sapiens_hsa04140	0.87233283
66	RNA transport_Homo sapiens_hsa03013	0.81526690
67	Serotonergic synapse_Homo sapiens_hsa04726	0.79822697
68	Base excision repair_Homo sapiens_hsa03410	0.79759009
69	Type I diabetes mellitus_Homo sapiens_hsa04940	0.75928059
70	Nucleotide excision repair_Homo sapiens_hsa03420	0.70326421
71	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.69029535
72	Propanoate metabolism_Homo sapiens_hsa00640	0.67292247
73	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.65557210
74	Glutathione metabolism_Homo sapiens_hsa00480	0.65091810
75	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.64755998
76	Glycerolipid metabolism_Homo sapiens_hsa00561	0.63858512
77	Primary immunodeficiency_Homo sapiens_hsa05340	0.63786850
78	Metabolic pathways_Homo sapiens_hsa01100	0.63127965
79	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.62108286
80	GABAergic synapse_Homo sapiens_hsa04727	0.60711553
81	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.56814469
82	Fatty acid elongation_Homo sapiens_hsa00062	0.55917181
83	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.55751484
84	Pancreatic secretion_Homo sapiens_hsa04972	0.52083519
85	Fatty acid degradation_Homo sapiens_hsa00071	0.50279267
86	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.49468490
87	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.41778609
88	Collecting duct acid secretion_Homo sapiens_hsa04966	0.40525462
89	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.38164513
90	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.37407387
91	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.36838106
92	Tyrosine metabolism_Homo sapiens_hsa00350	0.34428876
93	Salivary secretion_Homo sapiens_hsa04970	0.34409220
94	Selenocompound metabolism_Homo sapiens_hsa00450	0.33871894
95	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.32410571
96	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.31979388
97	Rheumatoid arthritis_Homo sapiens_hsa05323	0.31952020
98	Circadian entrainment_Homo sapiens_hsa04713	0.30678003
99	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.30215024
100	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.27473994

RPL23AP8

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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