ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sperm motility (GO:0030317)	8.18929998
2	acrosome reaction (GO:0007340)	7.90849367
3	fusion of sperm to egg plasma membrane (GO:0007342)	7.86249780
4	response to pheromone (GO:0019236)	7.17983381
5	multicellular organism reproduction (GO:0032504)	6.36204746
6	sperm-egg recognition (GO:0035036)	6.12884167
7	plasma membrane fusion (GO:0045026)	6.12148250
8	spermatid development (GO:0007286)	5.71729745
9	cell-cell recognition (GO:0009988)	5.59123776
10	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	5.55805555
11	binding of sperm to zona pellucida (GO:0007339)	5.32685609
12	cellular ketone body metabolic process (GO:0046950)	5.25306945
13	single strand break repair (GO:0000012)	5.20364465
14	reproduction (GO:0000003)	5.19108041
15	spermatid nucleus differentiation (GO:0007289)	5.05174749
16	regulation of guanylate cyclase activity (GO:0031282)	5.02904858
17	ketone body metabolic process (GO:1902224)	4.97801520
18	positive regulation of guanylate cyclase activity (GO:0031284)	4.93881335
19	microtubule depolymerization (GO:0007019)	4.90416755
20	phosphatidylethanolamine biosynthetic process (GO:0006646)	4.82865518
21	sperm capacitation (GO:0048240)	4.64259108
22	rRNA methylation (GO:0031167)	4.61722472
23	phosphatidylethanolamine metabolic process (GO:0046337)	4.44668000
24	motile cilium assembly (GO:0044458)	4.43901354
25	chromosome condensation (GO:0030261)	4.38620028
26	organic cation transport (GO:0015695)	4.33732715
27	single fertilization (GO:0007338)	4.15927989
28	DNA packaging (GO:0006323)	4.15707782
29	cellular response to zinc ion (GO:0071294)	4.14156601
30	axonemal dynein complex assembly (GO:0070286)	4.13346883
31	calcium ion-dependent exocytosis (GO:0017156)	4.12449646
32	protein polyglutamylation (GO:0018095)	4.10177870
33	rRNA modification (GO:0000154)	3.99412043
34	L-fucose catabolic process (GO:0042355)	3.98070986
35	fucose catabolic process (GO:0019317)	3.98070986
36	L-fucose metabolic process (GO:0042354)	3.98070986
37	spermatogenesis (GO:0007283)	3.96397128
38	male gamete generation (GO:0048232)	3.94791116
39	regulation of transcription involved in cell fate commitment (GO:0060850)	3.85449102
40	positive regulation of T cell mediated cytotoxicity (GO:0001916)	3.82085566
41	coenzyme catabolic process (GO:0009109)	3.59776460
42	gamete generation (GO:0007276)	3.59701499
43	seminiferous tubule development (GO:0072520)	3.51727591
44	centriole replication (GO:0007099)	3.48640566
45	regulation of cGMP biosynthetic process (GO:0030826)	3.45449393
46	germ cell development (GO:0007281)	3.44684617
47	peptidyl-threonine dephosphorylation (GO:0035970)	3.37005332
48	positive regulation of cGMP biosynthetic process (GO:0030828)	3.31187492
49	microtubule polymerization or depolymerization (GO:0031109)	3.30419342
50	piRNA metabolic process (GO:0034587)	3.26433424
51	NAD biosynthetic process (GO:0009435)	3.22326834
52	establishment of protein localization to Golgi (GO:0072600)	3.18741493
53	protein targeting to Golgi (GO:0000042)	3.18611477
54	negative regulation of macroautophagy (GO:0016242)	3.18227177
55	fertilization (GO:0009566)	3.14640709
56	regulation of Rab GTPase activity (GO:0032313)	3.12125794
57	positive regulation of Rab GTPase activity (GO:0032851)	3.12125794
58	regulation of T cell mediated cytotoxicity (GO:0001914)	3.09530603
59	centriole assembly (GO:0098534)	3.08060316
60	positive regulation of glycolytic process (GO:0045821)	3.01767145
61	synapsis (GO:0007129)	3.01333491
62	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.99245674
63	urinary tract smooth muscle contraction (GO:0014848)	2.99083338
64	receptor guanylyl cyclase signaling pathway (GO:0007168)	2.98807797
65	fucosylation (GO:0036065)	2.98053295
66	heme transport (GO:0015886)	2.98003163
67	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.91010021
68	regulation of cGMP metabolic process (GO:0030823)	2.90856656
69	cellular process involved in reproduction in multicellular organism (GO:0022412)	2.89651991
70	RNA destabilization (GO:0050779)	2.88143499
71	multicellular organismal reproductive process (GO:0048609)	2.85888464
72	regulation of cilium movement (GO:0003352)	2.84859814
73	male meiosis (GO:0007140)	2.84842048
74	fucose metabolic process (GO:0006004)	2.81271262
75	sexual reproduction (GO:0019953)	2.81198935
76	behavioral response to nicotine (GO:0035095)	2.79406275
77	regulation of centriole replication (GO:0046599)	2.77347767
78	positive regulation of endothelial cell differentiation (GO:0045603)	2.77327037
79	protein K11-linked deubiquitination (GO:0035871)	2.74226823
80	epithelial cilium movement (GO:0003351)	2.73916756
81	regulation of phosphoprotein phosphatase activity (GO:0043666)	2.73312386
82	xenobiotic catabolic process (GO:0042178)	2.72624456
83	positive regulation of cGMP metabolic process (GO:0030825)	2.67969473
84	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.67569442
85	cellular response to pH (GO:0071467)	2.66845576
86	DNA deamination (GO:0045006)	2.65958833
87	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.64551835
88	mRNA cleavage (GO:0006379)	2.63334370
89	DNA methylation involved in gamete generation (GO:0043046)	2.62615899
90	mast cell activation involved in immune response (GO:0002279)	2.59360546
91	mast cell degranulation (GO:0043303)	2.59360546
92	regulation of endothelial cell differentiation (GO:0045601)	2.58106077
93	cell wall macromolecule metabolic process (GO:0044036)	2.57295917
94	positive regulation of T-helper 1 type immune response (GO:0002827)	2.55112055
95	positive regulation of T cell mediated immunity (GO:0002711)	2.53495026
96	chromosome organization involved in meiosis (GO:0070192)	2.49909931
97	positive thymic T cell selection (GO:0045059)	2.48302215
98	positive regulation of catecholamine secretion (GO:0033605)	2.47868867
99	L-methionine biosynthetic process (GO:0071265)	2.46137052
100	amino acid salvage (GO:0043102)	2.46137052

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.40955857
2	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.19869856
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.95464107
4	BP1_19119308_ChIP-ChIP_Hs578T_Human	2.86898809
5	VDR_22108803_ChIP-Seq_LS180_Human	2.71331039
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.67639913
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.57290192
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.54246062
9	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	2.51081045
10	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.28726945
11	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	2.27637441
12	ER_23166858_ChIP-Seq_MCF-7_Human	2.20897455
13	CBP_20019798_ChIP-Seq_JUKART_Human	2.09340600
14	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.09340600
15	NANOG_20526341_ChIP-Seq_ESCs_Human	2.07508709
16	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.02382143
17	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.94714130
18	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.93051246
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.92892128
20	MYC_19829295_ChIP-Seq_ESCs_Human	1.85001322
21	ERA_21632823_ChIP-Seq_H3396_Human	1.79278031
22	E2F1_20622854_ChIP-Seq_HELA_Human	1.76813142
23	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.76101876
24	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.75416987
25	RAC3_21632823_ChIP-Seq_H3396_Human	1.74721015
26	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.74034565
27	OCT4_20526341_ChIP-Seq_ESCs_Human	1.67715312
28	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.67287689
29	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.66917354
30	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.65054650
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.62552402
32	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.59770282
33	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.59032338
34	STAT1_20625510_ChIP-Seq_HELA_Human	1.55107408
35	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.54396645
36	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.52322739
37	NANOG_19829295_ChIP-Seq_ESCs_Human	1.50447032
38	SOX2_19829295_ChIP-Seq_ESCs_Human	1.50447032
39	NCOR_22424771_ChIP-Seq_293T_Human	1.50166468
40	BCL6_27268052_Chip-Seq_Bcells_Human	1.50058677
41	TAF2_19829295_ChIP-Seq_ESCs_Human	1.49932368
42	P300_27268052_Chip-Seq_Bcells_Human	1.48583110
43	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.45987243
44	BCOR_27268052_Chip-Seq_Bcells_Human	1.44743175
45	HOXB7_26014856_ChIP-Seq_BT474_Human	1.42834893
46	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.41750519
47	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.41750519
48	P300_19829295_ChIP-Seq_ESCs_Human	1.40407972
49	DROSHA_22980978_ChIP-Seq_HELA_Human	1.38270249
50	CTCF_20526341_ChIP-Seq_ESCs_Human	1.37748241
51	RUNX_20019798_ChIP-Seq_JUKART_Human	1.37113134
52	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.36871042
53	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.36409453
54	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.35698945
55	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.34873066
56	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.34576312
57	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.34179568
58	RBPJ_21746931_ChIP-Seq_IB4_Human	1.33462849
59	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.32024410
60	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.31783153
61	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.30602540
62	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.30081339
63	P53_21459846_ChIP-Seq_SAOS-2_Human	1.28979491
64	PHF8_20622853_ChIP-Seq_HELA_Human	1.28441609
65	IRF1_19129219_ChIP-ChIP_H3396_Human	1.26285309
66	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.25509778
67	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.24811712
68	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.24546554
69	NFYB_21822215_ChIP-Seq_K562_Human	1.22558714
70	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.22387204
71	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.22258945
72	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21615939
73	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21518334
74	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.21518334
75	ETV1_20927104_ChIP-Seq_GIST48_Human	1.20538836
76	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.20033305
77	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.17969219
78	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.16402054
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15728086
80	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.14951494
81	CEBPB_22108803_ChIP-Seq_LS180_Human	1.13996340
82	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.13986427
83	IGF1R_20145208_ChIP-Seq_DFB_Human	1.13702812
84	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.12340977
85	FUS_26573619_Chip-Seq_HEK293_Human	1.12166196
86	CDX2_22108803_ChIP-Seq_LS180_Human	1.11216512
87	TBL1_22424771_ChIP-Seq_293T_Human	1.11006210
88	ERG_20517297_ChIP-Seq_VCAP_Human	1.09980401
89	NFYA_21822215_ChIP-Seq_K562_Human	1.09955555
90	PHF8_20622854_ChIP-Seq_HELA_Human	1.09065638
91	AR_20517297_ChIP-Seq_VCAP_Human	1.04929069
92	TP53_22573176_ChIP-Seq_HFKS_Human	1.04379276
93	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.02621659
94	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.01947917
95	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.01616999
96	SPI1_20517297_ChIP-Seq_HL60_Human	1.01046696
97	AR_25329375_ChIP-Seq_VCAP_Human	1.00252895
98	GATA3_26560356_Chip-Seq_TH2_Human	1.00063608
99	SMRT_27268052_Chip-Seq_Bcells_Human	0.98214587
100	P68_20966046_ChIP-Seq_HELA_Human	0.97134686

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	7.79415500
2	MP0005360_urolithiasis	3.22285493
3	MP0005377_hearing/vestibular/ear_phenot	3.12112157
4	MP0003878_abnormal_ear_physiology	3.12112157
5	MP0003045_fibrosis	2.91595454
6	MP0003646_muscle_fatigue	2.83531558
7	MP0003698_abnormal_male_reproductive	2.77179335
8	MP0001929_abnormal_gametogenesis	2.71761520
9	MP0003950_abnormal_plasma_membrane	2.21403958
10	MP0003718_maternal_effect	2.04412801
11	MP0005645_abnormal_hypothalamus_physiol	1.93584702
12	MP0008775_abnormal_heart_ventricle	1.89645721
13	MP0005671_abnormal_response_to	1.80854808
14	MP0001501_abnormal_sleep_pattern	1.73009931
15	MP0005083_abnormal_biliary_tract	1.67405316
16	MP0006072_abnormal_retinal_apoptosis	1.66064016
17	MP0001984_abnormal_olfaction	1.64361165
18	MP0005167_abnormal_blood-brain_barrier	1.62867108
19	MP0008872_abnormal_physiological_respon	1.62709191
20	MP0005551_abnormal_eye_electrophysiolog	1.59208741
21	MP0001905_abnormal_dopamine_level	1.56514623
22	MP0005387_immune_system_phenotype	1.52867110
23	MP0001790_abnormal_immune_system	1.52867110
24	MP0002160_abnormal_reproductive_system	1.51737496
25	MP0004381_abnormal_hair_follicle	1.51644138
26	MP0005075_abnormal_melanosome_morpholog	1.51526396
27	MP0001835_abnormal_antigen_presentation	1.47198842
28	MP0001666_abnormal_nutrient_absorption	1.42794637
29	MP0003806_abnormal_nucleotide_metabolis	1.42710176
30	MP0000678_abnormal_parathyroid_gland	1.40648681
31	MP0004084_abnormal_cardiac_muscle	1.33068731
32	MP0005084_abnormal_gallbladder_morpholo	1.33001556
33	MP0008004_abnormal_stomach_pH	1.31888199
34	MP0002161_abnormal_fertility/fecundity	1.31828725
35	MP0010386_abnormal_urinary_bladder	1.31720340
36	MP0005389_reproductive_system_phenotype	1.31513331
37	MP0002272_abnormal_nervous_system	1.27405592
38	MP0010329_abnormal_lipoprotein_level	1.26864788
39	MP0001485_abnormal_pinna_reflex	1.24797279
40	MP0002132_abnormal_respiratory_system	1.24794398
41	MP0002210_abnormal_sex_determination	1.22531996
42	MP0005166_decreased_susceptibility_to	1.20315086
43	MP0000653_abnormal_sex_gland	1.19955473
44	MP0009785_altered_susceptibility_to	1.19520684
45	MP0008877_abnormal_DNA_methylation	1.19109703
46	MP0002138_abnormal_hepatobiliary_system	1.17031741
47	MP0008995_early_reproductive_senescence	1.15961912
48	MP0001800_abnormal_humoral_immune	1.14673065
49	MP0001664_abnormal_digestion	1.12171903
50	MP0000685_abnormal_immune_system	1.11700095
51	MP0005395_other_phenotype	1.09680896
52	MP0004782_abnormal_surfactant_physiolog	1.09507406
53	MP0000372_irregular_coat_pigmentation	1.08034781
54	MP0002102_abnormal_ear_morphology	1.07647385
55	MP0004036_abnormal_muscle_relaxation	1.07072768
56	MP0001765_abnormal_ion_homeostasis	1.06289474
57	MP0001145_abnormal_male_reproductive	1.06033121
58	MP0005670_abnormal_white_adipose	1.04375974
59	MP0003724_increased_susceptibility_to	1.04049041
60	MP0006036_abnormal_mitochondrial_physio	1.03086779
61	MP0005085_abnormal_gallbladder_physiolo	1.01719279
62	MP0005379_endocrine/exocrine_gland_phen	1.00705917
63	MP0009643_abnormal_urine_homeostasis	0.99888300
64	MP0003011_delayed_dark_adaptation	0.99418816
65	MP0001968_abnormal_touch/_nociception	0.98135987
66	MP0000230_abnormal_systemic_arterial	0.97220811
67	MP0010155_abnormal_intestine_physiology	0.96660513
68	MP0005253_abnormal_eye_physiology	0.96348255
69	MP0005310_abnormal_salivary_gland	0.96200479
70	MP0002837_dystrophic_cardiac_calcinosis	0.93698227
71	MP0003879_abnormal_hair_cell	0.93601505
72	MP0002166_altered_tumor_susceptibility	0.93019957
73	MP0002452_abnormal_antigen_presenting	0.92207502
74	MP0003786_premature_aging	0.91268869
75	MP0004019_abnormal_vitamin_homeostasis	0.89667190
76	MP0005332_abnormal_amino_acid	0.89619720
77	MP0001661_extended_life_span	0.88815080
78	MP0001919_abnormal_reproductive_system	0.87775712
79	MP0005636_abnormal_mineral_homeostasis	0.85627000
80	MP0002653_abnormal_ependyma_morphology	0.85152258
81	MP0004147_increased_porphyrin_level	0.83929472
82	MP0002420_abnormal_adaptive_immunity	0.82916019
83	MP0002733_abnormal_thermal_nociception	0.82276189
84	MP0002723_abnormal_immune_serum	0.82131400
85	MP0003866_abnormal_defecation	0.82047447
86	MP0000538_abnormal_urinary_bladder	0.81762653
87	MP0002127_abnormal_cardiovascular_syste	0.80386499
88	MP0001819_abnormal_immune_cell	0.80335395
89	MP0002006_tumorigenesis	0.78004966
90	MP0005647_abnormal_sex_gland	0.74162828
91	MP0005646_abnormal_pituitary_gland	0.74020953
92	MP0004484_altered_response_of	0.73759824
93	MP0001845_abnormal_inflammatory_respons	0.73099378
94	MP0003252_abnormal_bile_duct	0.72466554
95	MP0009840_abnormal_foam_cell	0.72455373
96	MP0001756_abnormal_urination	0.72390992
97	MP0005000_abnormal_immune_tolerance	0.71137670
98	MP0005025_abnormal_response_to	0.70608403
99	MP0001502_abnormal_circadian_rhythm	0.70571719
100	MP0005535_abnormal_body_temperature	0.70420304

Predicted human phenotypes

Rank	Gene Set	Z-score
1	3-Methylglutaconic aciduria (HP:0003535)	4.85120081
2	Abnormal rod and cone electroretinograms (HP:0008323)	4.10197349
3	Attenuation of retinal blood vessels (HP:0007843)	4.08894032
4	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.00731379
5	Absent/shortened dynein arms (HP:0200106)	4.00731379
6	Cerebellar dysplasia (HP:0007033)	3.91664606
7	Azoospermia (HP:0000027)	3.70079583
8	Type II lissencephaly (HP:0007260)	3.58634595
9	Resting tremor (HP:0002322)	3.36263457
10	Abnormal spermatogenesis (HP:0008669)	3.30261669
11	Hypochromic microcytic anemia (HP:0004840)	3.29373355
12	Abnormal ciliary motility (HP:0012262)	3.25187516
13	Large for gestational age (HP:0001520)	3.18478405
14	Severe visual impairment (HP:0001141)	3.11970056
15	Thyroiditis (HP:0100646)	3.06991825
16	Abnormal respiratory epithelium morphology (HP:0012253)	3.03604874
17	Abnormal respiratory motile cilium morphology (HP:0005938)	3.03604874
18	Congenital sensorineural hearing impairment (HP:0008527)	2.98822598
19	Abnormal respiratory motile cilium physiology (HP:0012261)	2.90502632
20	Duplicated collecting system (HP:0000081)	2.89648599
21	Generalized aminoaciduria (HP:0002909)	2.86823955
22	Abnormality of macular pigmentation (HP:0008002)	2.84539249
23	Impulsivity (HP:0100710)	2.77418019
24	Abnormality of the renal collecting system (HP:0004742)	2.74474657
25	Congenital stationary night blindness (HP:0007642)	2.73672938
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.73368485
27	Bony spicule pigmentary retinopathy (HP:0007737)	2.69361687
28	Amelogenesis imperfecta (HP:0000705)	2.63221877
29	Abnormality of the pons (HP:0007361)	2.63173969
30	Abnormality of urine glucose concentration (HP:0011016)	2.58758125
31	Glycosuria (HP:0003076)	2.58758125
32	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	2.55549225
33	Hepatocellular necrosis (HP:0001404)	2.46458047
34	Severe combined immunodeficiency (HP:0004430)	2.45411304
35	Tetany (HP:0001281)	2.44338081
36	Chronic hepatic failure (HP:0100626)	2.42836891
37	Facial shape deformation (HP:0011334)	2.40694132
38	Potter facies (HP:0002009)	2.40694132
39	Abolished electroretinogram (ERG) (HP:0000550)	2.39302349
40	Infertility (HP:0000789)	2.38888631
41	Renal Fanconi syndrome (HP:0001994)	2.37619070
42	Nasal polyposis (HP:0100582)	2.35674246
43	Abnormal urine output (HP:0012590)	2.32457887
44	Dyschromatopsia (HP:0007641)	2.27610163
45	Mitochondrial inheritance (HP:0001427)	2.27322510
46	Pigmentary retinal degeneration (HP:0001146)	2.22610759
47	Abnormality of T cell physiology (HP:0011840)	2.21366389
48	Hepatic necrosis (HP:0002605)	2.20699936
49	Abnormality of the costochondral junction (HP:0000919)	2.19773124
50	Abnormality of the aortic arch (HP:0012303)	2.18444171
51	Enlarged epiphyses (HP:0010580)	2.15498007
52	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.14200222
53	Optic disc pallor (HP:0000543)	2.13690100
54	Acute necrotizing encephalopathy (HP:0006965)	2.13268389
55	Hypoproteinemia (HP:0003075)	2.12053623
56	Increased CSF lactate (HP:0002490)	2.11498374
57	Polyuria (HP:0000103)	2.10550082
58	Hypothermia (HP:0002045)	2.10277383
59	Lipid accumulation in hepatocytes (HP:0006561)	2.09638875
60	Abnormality of renal excretion (HP:0011036)	2.09285069
61	Hypochromic anemia (HP:0001931)	2.08486595
62	Chronic diarrhea (HP:0002028)	2.06388225
63	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.04722277
64	Acute encephalopathy (HP:0006846)	2.04100048
65	Clubbing of toes (HP:0100760)	2.03777115
66	Seborrheic dermatitis (HP:0001051)	2.03454334
67	Abnormality of dental color (HP:0011073)	2.01454281
68	Progressive macrocephaly (HP:0004481)	2.01064745
69	IgM deficiency (HP:0002850)	2.00063493
70	Abnormality of the nasal mucosa (HP:0000433)	1.98829759
71	Nephronophthisis (HP:0000090)	1.98030568
72	Aplasia/Hypoplasia of the earlobes (HP:0009906)	1.97390571
73	Hypomagnesemia (HP:0002917)	1.96136876
74	Abnormality of magnesium homeostasis (HP:0004921)	1.96125728
75	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.95795234
76	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.95795234
77	Recurrent corneal erosions (HP:0000495)	1.95312513
78	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.94398656
79	Postural instability (HP:0002172)	1.94042231
80	Abnormality of T cells (HP:0002843)	1.93461517
81	Hypoplasia of the thymus (HP:0000778)	1.93433121
82	Gastrointestinal infarctions (HP:0005244)	1.93373544
83	Abnormality of eosinophils (HP:0001879)	1.91123354
84	Abnormality of the renal medulla (HP:0100957)	1.87566115
85	Abnormal drinking behavior (HP:0030082)	1.87427869
86	Polydipsia (HP:0001959)	1.87427869
87	Pancreatic cysts (HP:0001737)	1.82328698
88	Alkalosis (HP:0001948)	1.81028406
89	Optic nerve hypoplasia (HP:0000609)	1.80491446
90	Retinal dysplasia (HP:0007973)	1.79222998
91	Type 2 muscle fiber atrophy (HP:0003554)	1.78949051
92	Combined immunodeficiency (HP:0005387)	1.78750232
93	Constricted visual fields (HP:0001133)	1.76226803
94	Widely patent fontanelles and sutures (HP:0004492)	1.75802488
95	Bronchiectasis (HP:0002110)	1.74867190
96	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.74632287
97	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.74533964
98	Ketosis (HP:0001946)	1.74402029
99	Cerebral edema (HP:0002181)	1.74212395
100	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.73860594

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	4.56793866
2	PLK4	4.45228394
3	STK16	4.15250235
4	PINK1	3.45443920
5	FRK	3.39162651
6	ZAK	2.68048683
7	BMPR1B	2.58638451
8	INSRR	2.33888174
9	MAP4K1	2.31706359
10	ADRBK2	2.28399357
11	TLK1	2.18600136
12	NUAK1	2.17526009
13	DDR2	2.17000683
14	MAPK15	2.15791755
15	VRK2	2.13196600
16	EIF2AK3	2.02879571
17	MAP4K2	1.95709243
18	STK38L	1.86810191
19	MAP3K11	1.79243201
20	TESK1	1.64026073
21	FES	1.61593497
22	MARK3	1.59579010
23	STK38	1.58584644
24	NEK2	1.52918057
25	PLK2	1.42015462
26	GRK1	1.40238343
27	ACVR1B	1.38535442
28	MAPKAPK5	1.32647696
29	GRK5	1.20007093
30	MAPKAPK3	1.19429932
31	EIF2AK1	1.16838095
32	VRK1	1.16282664
33	OBSCN	1.09768192
34	KDR	1.09082282
35	MAP3K13	1.07304173
36	WNK4	1.01989075
37	PIK3CA	1.01928240
38	PIK3CG	1.01785387
39	PRKCQ	0.98342968
40	LATS1	0.95673933
41	CSNK1A1L	0.89503910
42	CSNK1G3	0.87835158
43	TXK	0.86308610
44	PTK2B	0.85590428
45	KIT	0.85476927
46	PRKG2	0.85052294
47	ZAP70	0.84301872
48	TIE1	0.80322631
49	TNK2	0.80213549
50	SYK	0.76693275
51	TAF1	0.76522996
52	OXSR1	0.76332731
53	MYLK	0.74037930
54	MATK	0.73450670
55	WNK3	0.70421072
56	FGFR2	0.68006672
57	RIPK4	0.66497620
58	ITK	0.65951012
59	PDK1	0.65072866
60	MST1R	0.64768906
61	GRK6	0.63582406
62	MAPK13	0.63069964
63	CDK19	0.61907159
64	WNK1	0.59673239
65	MAP3K14	0.58924856
66	IKBKB	0.58835964
67	MAP3K1	0.56784343
68	RPS6KA5	0.55541656
69	CSNK1G2	0.53221653
70	TEC	0.52872400
71	CSNK1G1	0.52687108
72	PDPK1	0.50658212
73	BTK	0.50251314
74	BLK	0.49956987
75	CAMKK2	0.47961723
76	CSK	0.45041943
77	MAP2K2	0.44263413
78	TESK2	0.43668576
79	PHKG2	0.43194537
80	PHKG1	0.43194537
81	IKBKE	0.42811333
82	STK39	0.40460258
83	MAP3K5	0.39961410
84	MAP3K12	0.37192225
85	PRKG1	0.35124819
86	NLK	0.34923783
87	RPS6KB2	0.34150708
88	MAPK11	0.33677327
89	ADRBK1	0.32818731
90	PRKAA2	0.32524873
91	TYRO3	0.32327445
92	PLK3	0.29761743
93	TBK1	0.29485599
94	LYN	0.24748064
95	LCK	0.24496620
96	CSNK1D	0.23945625
97	MAP2K7	0.21640794
98	MAP2K6	0.20826505
99	CSNK1A1	0.19928968
100	PRKCZ	0.19812123

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.75570333
2	Allograft rejection_Homo sapiens_hsa05330	3.25076193
3	Graft-versus-host disease_Homo sapiens_hsa05332	3.17550620
4	Autoimmune thyroid disease_Homo sapiens_hsa05320	3.12516852
5	Type I diabetes mellitus_Homo sapiens_hsa04940	2.83533319
6	Asthma_Homo sapiens_hsa05310	2.47426794
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.46074445
8	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.36374509
9	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.35979285
10	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.21995182
11	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.10232675
12	Fat digestion and absorption_Homo sapiens_hsa04975	2.07478389
13	Antigen processing and presentation_Homo sapiens_hsa04612	2.04297696
14	Olfactory transduction_Homo sapiens_hsa04740	1.99479275
15	Butanoate metabolism_Homo sapiens_hsa00650	1.93810622
16	Mineral absorption_Homo sapiens_hsa04978	1.67505655
17	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.65168962
18	Chemical carcinogenesis_Homo sapiens_hsa05204	1.64014253
19	Oxidative phosphorylation_Homo sapiens_hsa00190	1.54373046
20	Primary immunodeficiency_Homo sapiens_hsa05340	1.50369144
21	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.48014685
22	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.47641226
23	Phototransduction_Homo sapiens_hsa04744	1.47413590
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.44914133
25	Caffeine metabolism_Homo sapiens_hsa00232	1.39661026
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.35664299
27	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.35638134
28	Propanoate metabolism_Homo sapiens_hsa00640	1.34255529
29	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.30069145
30	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.26640941
31	Fatty acid degradation_Homo sapiens_hsa00071	1.24166281
32	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.23317352
33	Parkinsons disease_Homo sapiens_hsa05012	1.20606335
34	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.13593180
35	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.10528038
36	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.05735581
37	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.03787522
38	Viral myocarditis_Homo sapiens_hsa05416	1.02619773
39	Arginine biosynthesis_Homo sapiens_hsa00220	1.02084704
40	Ether lipid metabolism_Homo sapiens_hsa00565	1.01102628
41	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.00762189
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.99878285
43	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.97313931
44	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.95535606
45	Cardiac muscle contraction_Homo sapiens_hsa04260	0.94710768
46	Nitrogen metabolism_Homo sapiens_hsa00910	0.91144085
47	Taste transduction_Homo sapiens_hsa04742	0.90287173
48	Retinol metabolism_Homo sapiens_hsa00830	0.87149127
49	Purine metabolism_Homo sapiens_hsa00230	0.84816748
50	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.84509933
51	Proteasome_Homo sapiens_hsa03050	0.83617827
52	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.83128994
53	Glutathione metabolism_Homo sapiens_hsa00480	0.81431425
54	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.78170126
55	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.77970931
56	Glycerolipid metabolism_Homo sapiens_hsa00561	0.77665203
57	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.76852436
58	Rheumatoid arthritis_Homo sapiens_hsa05323	0.76049397
59	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.74433162
60	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.73833907
61	Peroxisome_Homo sapiens_hsa04146	0.72882147
62	Herpes simplex infection_Homo sapiens_hsa05168	0.72529216
63	Histidine metabolism_Homo sapiens_hsa00340	0.69780045
64	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.69462694
65	Alzheimers disease_Homo sapiens_hsa05010	0.68525806
66	Salivary secretion_Homo sapiens_hsa04970	0.67412787
67	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.66445042
68	Phenylalanine metabolism_Homo sapiens_hsa00360	0.65797390
69	Fatty acid metabolism_Homo sapiens_hsa01212	0.65793632
70	Sulfur relay system_Homo sapiens_hsa04122	0.65768273
71	Huntingtons disease_Homo sapiens_hsa05016	0.65691532
72	Tyrosine metabolism_Homo sapiens_hsa00350	0.65171469
73	Collecting duct acid secretion_Homo sapiens_hsa04966	0.65051514
74	ABC transporters_Homo sapiens_hsa02010	0.62907272
75	PPAR signaling pathway_Homo sapiens_hsa03320	0.62041262
76	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.57756993
77	Metabolic pathways_Homo sapiens_hsa01100	0.56600815
78	One carbon pool by folate_Homo sapiens_hsa00670	0.55950643
79	Renin-angiotensin system_Homo sapiens_hsa04614	0.53792901
80	Renin secretion_Homo sapiens_hsa04924	0.52054076
81	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.51091561
82	Protein digestion and absorption_Homo sapiens_hsa04974	0.50416269
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.50075311
84	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49718783
85	Bile secretion_Homo sapiens_hsa04976	0.48571289
86	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.47835011
87	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.46234629
88	RNA transport_Homo sapiens_hsa03013	0.44942577
89	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.43702817
90	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.41862256
91	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.41756880
92	Fanconi anemia pathway_Homo sapiens_hsa03460	0.40928522
93	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.40840792
94	Calcium signaling pathway_Homo sapiens_hsa04020	0.40626133
95	Ribosome_Homo sapiens_hsa03010	0.40068273
96	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.39992947
97	Phagosome_Homo sapiens_hsa04145	0.39599502
98	Leishmaniasis_Homo sapiens_hsa05140	0.39015378
99	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.38115143
100	Pancreatic secretion_Homo sapiens_hsa04972	0.37644063

RPL23AP51

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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