ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.55081914
2	piRNA metabolic process (GO:0034587)	5.45370797
3	DNA methylation involved in gamete generation (GO:0043046)	5.40879483
4	multicellular organism reproduction (GO:0032504)	5.18016269
5	synapsis (GO:0007129)	4.53900895
6	fucose catabolic process (GO:0019317)	4.48603618
7	L-fucose metabolic process (GO:0042354)	4.48603618
8	L-fucose catabolic process (GO:0042355)	4.48603618
9	regulation of acrosome reaction (GO:0060046)	4.41287941
10	regulation of meiosis I (GO:0060631)	4.05692632
11	regulation of female gonad development (GO:2000194)	3.80234187
12	retinal cone cell development (GO:0046549)	3.72305917
13	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.69171037
14	male meiosis (GO:0007140)	3.66915929
15	indole-containing compound catabolic process (GO:0042436)	3.54614634
16	indolalkylamine catabolic process (GO:0046218)	3.54614634
17	tryptophan catabolic process (GO:0006569)	3.54614634
18	positive regulation of histone H3-K4 methylation (GO:0051571)	3.47306774
19	DNA deamination (GO:0045006)	3.42926079
20	male meiosis I (GO:0007141)	3.41485914
21	cellular ketone body metabolic process (GO:0046950)	3.40016774
22	indolalkylamine metabolic process (GO:0006586)	3.37860201
23	epithelial cilium movement (GO:0003351)	3.35878552
24	meiotic cell cycle (GO:0051321)	3.33493558
25	platelet dense granule organization (GO:0060155)	3.30814067
26	detection of light stimulus involved in visual perception (GO:0050908)	3.25662322
27	detection of light stimulus involved in sensory perception (GO:0050962)	3.25662322
28	ubiquinone biosynthetic process (GO:0006744)	3.25402613
29	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.22755763
30	tryptophan metabolic process (GO:0006568)	3.21977342
31	kynurenine metabolic process (GO:0070189)	3.21085700
32	reproduction (GO:0000003)	3.14748343
33	ketone body metabolic process (GO:1902224)	3.07015423
34	negative regulation of mast cell activation (GO:0033004)	3.02281878
35	cilium or flagellum-dependent cell motility (GO:0001539)	3.01253002
36	ubiquinone metabolic process (GO:0006743)	2.98835209
37	cellular biogenic amine catabolic process (GO:0042402)	2.98599970
38	amine catabolic process (GO:0009310)	2.98599970
39	meiotic chromosome segregation (GO:0045132)	2.98556812
40	axoneme assembly (GO:0035082)	2.93957148
41	protein polyglutamylation (GO:0018095)	2.90008462
42	gene silencing by RNA (GO:0031047)	2.80312115
43	replication fork processing (GO:0031297)	2.79174072
44	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.78620715
45	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.78620715
46	pseudouridine synthesis (GO:0001522)	2.77642390
47	S-adenosylmethionine metabolic process (GO:0046500)	2.77164501
48	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.77091721
49	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.76702124
50	response to pheromone (GO:0019236)	2.76669909
51	regulation of action potential (GO:0098900)	2.75880977
52	sperm-egg recognition (GO:0035036)	2.75779795
53	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.73790338
54	double-strand break repair via homologous recombination (GO:0000724)	2.73625504
55	recombinational repair (GO:0000725)	2.73030380
56	cilium movement (GO:0003341)	2.71580190
57	protein-cofactor linkage (GO:0018065)	2.71344713
58	centriole replication (GO:0007099)	2.70612522
59	water-soluble vitamin biosynthetic process (GO:0042364)	2.70490601
60	DNA double-strand break processing (GO:0000729)	2.70376257
61	glycine transport (GO:0015816)	2.65327401
62	positive regulation of meiosis (GO:0045836)	2.65305379
63	chromosome organization involved in meiosis (GO:0070192)	2.65282312
64	indole-containing compound metabolic process (GO:0042430)	2.64635383
65	reciprocal meiotic recombination (GO:0007131)	2.64424601
66	reciprocal DNA recombination (GO:0035825)	2.64424601
67	preassembly of GPI anchor in ER membrane (GO:0016254)	2.63981272
68	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.63301759
69	rRNA catabolic process (GO:0016075)	2.60338179
70	resolution of meiotic recombination intermediates (GO:0000712)	2.59945447
71	neuronal action potential (GO:0019228)	2.57507949
72	cornea development in camera-type eye (GO:0061303)	2.57327254
73	kidney morphogenesis (GO:0060993)	2.57005031
74	meiosis I (GO:0007127)	2.56095245
75	quinone biosynthetic process (GO:1901663)	2.55452001
76	DNA alkylation (GO:0006305)	2.55071623
77	DNA methylation (GO:0006306)	2.55071623
78	negative regulation of telomere maintenance (GO:0032205)	2.54026102
79	positive regulation of meiotic cell cycle (GO:0051446)	2.53017578
80	membrane repolarization during action potential (GO:0086011)	2.51686737
81	sperm motility (GO:0030317)	2.51653216
82	somite rostral/caudal axis specification (GO:0032525)	2.47657288
83	protein complex biogenesis (GO:0070271)	2.47051958
84	neural tube formation (GO:0001841)	2.46729479
85	regulation of DNA methylation (GO:0044030)	2.45762949
86	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.43942379
87	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.43942379
88	NADH dehydrogenase complex assembly (GO:0010257)	2.43942379
89	regulation of memory T cell differentiation (GO:0043380)	2.42607816
90	rhodopsin mediated signaling pathway (GO:0016056)	2.42423535
91	regulation of histone H3-K4 methylation (GO:0051569)	2.42243306
92	protein K6-linked ubiquitination (GO:0085020)	2.41330460
93	female gamete generation (GO:0007292)	2.40630546
94	cilium morphogenesis (GO:0060271)	2.40492465
95	detection of chemical stimulus involved in sensory perception (GO:0050907)	2.40430543
96	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.38901626
97	DNA methylation or demethylation (GO:0044728)	2.38698396
98	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.37669284
99	primary amino compound metabolic process (GO:1901160)	2.37164785
100	L-methionine biosynthetic process (GO:0071265)	2.36454171

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.17450205
2	ZNF274_21170338_ChIP-Seq_K562_Hela	4.00164912
3	VDR_22108803_ChIP-Seq_LS180_Human	3.96481601
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.19729333
5	IGF1R_20145208_ChIP-Seq_DFB_Human	3.11305688
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.94590810
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.64532143
8	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.48505512
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.43380206
10	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.26013861
11	ER_23166858_ChIP-Seq_MCF-7_Human	2.17312223
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.11735918
13	EWS_26573619_Chip-Seq_HEK293_Human	2.06963596
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.03855982
15	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.03694816
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.00962027
17	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.00735000
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.95575099
19	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.92854927
20	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.86481903
21	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.82733929
22	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.80648740
23	FUS_26573619_Chip-Seq_HEK293_Human	1.77334189
24	P300_19829295_ChIP-Seq_ESCs_Human	1.70566127
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.68166216
26	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.58540119
27	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.50459523
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50053042
29	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.49210354
30	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.46969754
31	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.46969754
32	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.45915816
33	STAT3_23295773_ChIP-Seq_U87_Human	1.45606245
34	TCF4_23295773_ChIP-Seq_U87_Human	1.45187404
35	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.45136272
36	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.44015329
37	MYC_18940864_ChIP-ChIP_HL60_Human	1.43538121
38	NANOG_19829295_ChIP-Seq_ESCs_Human	1.42856124
39	SOX2_19829295_ChIP-Seq_ESCs_Human	1.42856124
40	AR_25329375_ChIP-Seq_VCAP_Human	1.42024557
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.41749132
42	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.40602538
43	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.38769095
44	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.36043933
45	AR_20517297_ChIP-Seq_VCAP_Human	1.35725359
46	NANOG_20526341_ChIP-Seq_ESCs_Human	1.35278936
47	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.34999614
48	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.34999614
49	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.33154402
50	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.33097469
51	HOXB7_26014856_ChIP-Seq_BT474_Human	1.31989355
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.31609577
53	TAF15_26573619_Chip-Seq_HEK293_Human	1.31435431
54	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.30849933
55	CBP_20019798_ChIP-Seq_JUKART_Human	1.30849933
56	BCAT_22108803_ChIP-Seq_LS180_Human	1.27836598
57	NCOR_22424771_ChIP-Seq_293T_Human	1.27075388
58	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.25216640
59	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.24887314
60	VDR_23849224_ChIP-Seq_CD4+_Human	1.24649370
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24538191
62	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.23563237
63	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.23274103
64	AR_21572438_ChIP-Seq_LNCaP_Human	1.22971820
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.21173302
66	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21083782
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20505188
68	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.16659665
69	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.16391328
70	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.16381644
71	TCF4_22108803_ChIP-Seq_LS180_Human	1.13991884
72	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.13465570
73	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.13128183
74	ELK1_19687146_ChIP-ChIP_HELA_Human	1.12260256
75	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12217806
76	REST_21632747_ChIP-Seq_MESCs_Mouse	1.10920236
77	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.08077643
78	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.06856290
79	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.06786421
80	MYC_19829295_ChIP-Seq_ESCs_Human	1.06410154
81	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.03555208
82	HTT_18923047_ChIP-ChIP_STHdh_Human	1.03529051
83	ERA_21632823_ChIP-Seq_H3396_Human	1.03262434
84	CDX2_22108803_ChIP-Seq_LS180_Human	1.00198153
85	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.00062893
86	RNF2_27304074_Chip-Seq_NSC_Mouse	0.98969564
87	PHF8_20622853_ChIP-Seq_HELA_Human	0.98783855
88	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.97424940
89	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.97316417
90	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.96821507
91	FOXP3_21729870_ChIP-Seq_TREG_Human	0.96413568
92	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96387491
93	GATA3_26560356_Chip-Seq_TH2_Human	0.96021656
94	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.94072384
95	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.93951058
96	ETV1_20927104_ChIP-Seq_GIST48_Human	0.93640224
97	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.93433023
98	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.93135162
99	TAF2_19829295_ChIP-Seq_ESCs_Human	0.92668406
100	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.91474127

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.82732309
2	MP0006292_abnormal_olfactory_placode	3.48462794
3	MP0003718_maternal_effect	3.44929203
4	MP0003195_calcinosis	2.70208845
5	MP0004147_increased_porphyrin_level	2.69264753
6	MP0003136_yellow_coat_color	2.58310608
7	MP0005410_abnormal_fertilization	2.33008366
8	MP0002102_abnormal_ear_morphology	2.27255388
9	MP0005551_abnormal_eye_electrophysiolog	2.19646521
10	MP0005646_abnormal_pituitary_gland	2.17332156
11	MP0002638_abnormal_pupillary_reflex	2.03125263
12	MP0003646_muscle_fatigue	2.01595708
13	MP0008058_abnormal_DNA_repair	1.93665105
14	MP0005084_abnormal_gallbladder_morpholo	1.91775713
15	MP0002160_abnormal_reproductive_system	1.89199780
16	MP0009046_muscle_twitch	1.82536441
17	MP0000427_abnormal_hair_cycle	1.79384791
18	MP0008872_abnormal_physiological_respon	1.77408093
19	MP0001968_abnormal_touch/_nociception	1.74688645
20	MP0008995_early_reproductive_senescence	1.71310041
21	MP0006072_abnormal_retinal_apoptosis	1.70952388
22	MP0001929_abnormal_gametogenesis	1.67601994
23	MP0008875_abnormal_xenobiotic_pharmacok	1.67471124
24	MP0002837_dystrophic_cardiac_calcinosis	1.62325123
25	MP0002138_abnormal_hepatobiliary_system	1.61678274
26	MP0002876_abnormal_thyroid_physiology	1.55307943
27	MP0002928_abnormal_bile_duct	1.52147528
28	MP0003252_abnormal_bile_duct	1.52132213
29	MP0005389_reproductive_system_phenotype	1.49270779
30	MP0004043_abnormal_pH_regulation	1.48837996
31	MP0005253_abnormal_eye_physiology	1.47118391
32	MP0004142_abnormal_muscle_tone	1.43508873
33	MP0002272_abnormal_nervous_system	1.42655644
34	MP0002210_abnormal_sex_determination	1.41697841
35	MP0002736_abnormal_nociception_after	1.40635371
36	MP0005083_abnormal_biliary_tract	1.40375183
37	MP0001986_abnormal_taste_sensitivity	1.39498833
38	MP0009745_abnormal_behavioral_response	1.39480071
39	MP0005085_abnormal_gallbladder_physiolo	1.32598025
40	MP0008775_abnormal_heart_ventricle	1.32432868
41	MP0003698_abnormal_male_reproductive	1.32271939
42	MP0005174_abnormal_tail_pigmentation	1.31101521
43	MP0005645_abnormal_hypothalamus_physiol	1.30385709
44	MP0000631_abnormal_neuroendocrine_gland	1.28672416
45	MP0003890_abnormal_embryonic-extraembry	1.27030700
46	MP0000372_irregular_coat_pigmentation	1.25529242
47	MP0010386_abnormal_urinary_bladder	1.25225459
48	MP0004885_abnormal_endolymph	1.25156351
49	MP0005167_abnormal_blood-brain_barrier	1.23471729
50	MP0004742_abnormal_vestibular_system	1.22980282
51	MP0000653_abnormal_sex_gland	1.18199469
52	MP0008789_abnormal_olfactory_epithelium	1.17591648
53	MP0003950_abnormal_plasma_membrane	1.14778647
54	MP0005395_other_phenotype	1.13839324
55	MP0001501_abnormal_sleep_pattern	1.13817950
56	MP0003806_abnormal_nucleotide_metabolis	1.12307318
57	MP0001485_abnormal_pinna_reflex	1.11933698
58	MP0000383_abnormal_hair_follicle	1.08885077
59	MP0001486_abnormal_startle_reflex	1.08269412
60	MP0005377_hearing/vestibular/ear_phenot	1.08155920
61	MP0003878_abnormal_ear_physiology	1.08155920
62	MP0002163_abnormal_gland_morphology	1.07679975
63	MP0005365_abnormal_bile_salt	1.07252339
64	MP0006276_abnormal_autonomic_nervous	1.06509409
65	MP0006036_abnormal_mitochondrial_physio	1.06443051
66	MP0003011_delayed_dark_adaptation	1.06430364
67	MP0003787_abnormal_imprinting	1.05663352
68	MP0001919_abnormal_reproductive_system	1.04975999
69	MP0004215_abnormal_myocardial_fiber	1.04357141
70	MP0004145_abnormal_muscle_electrophysio	1.00988782
71	MP0002132_abnormal_respiratory_system	0.99730573
72	MP0001145_abnormal_male_reproductive	0.98506339
73	MP0002234_abnormal_pharynx_morphology	0.98416449
74	MP0005379_endocrine/exocrine_gland_phen	0.95821098
75	MP0000647_abnormal_sebaceous_gland	0.95814546
76	MP0009697_abnormal_copulation	0.95646149
77	MP0002277_abnormal_respiratory_mucosa	0.93419108
78	MP0000015_abnormal_ear_pigmentation	0.91677075
79	MP0000230_abnormal_systemic_arterial	0.91270206
80	MP0001502_abnormal_circadian_rhythm	0.90846111
81	MP0002139_abnormal_hepatobiliary_system	0.88909315
82	MP0002693_abnormal_pancreas_physiology	0.88448415
83	MP0005499_abnormal_olfactory_system	0.88436806
84	MP0005394_taste/olfaction_phenotype	0.88436806
85	MP0002229_neurodegeneration	0.87268209
86	MP0005332_abnormal_amino_acid	0.86695988
87	MP0005636_abnormal_mineral_homeostasis	0.86648065
88	MP0002095_abnormal_skin_pigmentation	0.86339486
89	MP0001944_abnormal_pancreas_morphology	0.85707748
90	MP0005360_urolithiasis	0.84338790
91	MP0001984_abnormal_olfaction	0.83911171
92	MP0003699_abnormal_female_reproductive	0.83811713
93	MP0006035_abnormal_mitochondrial_morpho	0.82903459
94	MP0002735_abnormal_chemical_nociception	0.82592320
95	MP0002067_abnormal_sensory_capabilities	0.82436561
96	MP0002161_abnormal_fertility/fecundity	0.82010885
97	MP0001764_abnormal_homeostasis	0.81803912
98	MP0005187_abnormal_penis_morphology	0.81527228
99	MP0002064_seizures	0.79652010
100	MP0008057_abnormal_DNA_replication	0.77980904

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.31995847
2	Pancreatic fibrosis (HP:0100732)	3.77924188
3	Molar tooth sign on MRI (HP:0002419)	3.72833070
4	Abnormality of midbrain morphology (HP:0002418)	3.72833070
5	Congenital stationary night blindness (HP:0007642)	3.65299121
6	Abnormality of the renal cortex (HP:0011035)	3.51069470
7	Hypoplasia of the fovea (HP:0007750)	3.44389901
8	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.44389901
9	True hermaphroditism (HP:0010459)	3.35723305
10	Type II lissencephaly (HP:0007260)	3.28554279
11	Birth length less than 3rd percentile (HP:0003561)	3.26865319
12	Nephronophthisis (HP:0000090)	3.08668286
13	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.88136031
14	Absent/shortened dynein arms (HP:0200106)	2.88136031
15	Attenuation of retinal blood vessels (HP:0007843)	2.87992451
16	Abnormality of the fovea (HP:0000493)	2.87973172
17	Renal cortical cysts (HP:0000803)	2.83436593
18	Large for gestational age (HP:0001520)	2.81025934
19	Abnormality of alanine metabolism (HP:0010916)	2.78369687
20	Hyperalaninemia (HP:0003348)	2.78369687
21	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.78369687
22	Inability to walk (HP:0002540)	2.75524294
23	Tubular atrophy (HP:0000092)	2.73832763
24	Abnormality of the renal medulla (HP:0100957)	2.73797677
25	Abnormal rod and cone electroretinograms (HP:0008323)	2.64051732
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.58309714
27	Cystic liver disease (HP:0006706)	2.50428383
28	Pendular nystagmus (HP:0012043)	2.45382466
29	Polydipsia (HP:0001959)	2.42103492
30	Abnormal drinking behavior (HP:0030082)	2.42103492
31	Bile duct proliferation (HP:0001408)	2.39900671
32	Abnormal biliary tract physiology (HP:0012439)	2.39900671
33	Abolished electroretinogram (ERG) (HP:0000550)	2.39218523
34	Concave nail (HP:0001598)	2.36742687
35	Medial flaring of the eyebrow (HP:0010747)	2.33747052
36	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.33151255
37	Optic nerve hypoplasia (HP:0000609)	2.33045186
38	Abnormal respiratory epithelium morphology (HP:0012253)	2.26871291
39	Abnormal respiratory motile cilium morphology (HP:0005938)	2.26871291
40	Protruding tongue (HP:0010808)	2.26325580
41	Hyperventilation (HP:0002883)	2.25086111
42	Abnormal ciliary motility (HP:0012262)	2.23986994
43	Furrowed tongue (HP:0000221)	2.23786039
44	Sclerocornea (HP:0000647)	2.23652809
45	Progressive inability to walk (HP:0002505)	2.23058138
46	Azoospermia (HP:0000027)	2.15082528
47	Gaze-evoked nystagmus (HP:0000640)	2.14428878
48	Decreased central vision (HP:0007663)	2.13556580
49	Chronic hepatic failure (HP:0100626)	2.12408942
50	Febrile seizures (HP:0002373)	2.10378795
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.07200992
52	Hypothermia (HP:0002045)	2.04355396
53	Decreased circulating renin level (HP:0003351)	2.02195625
54	Male pseudohermaphroditism (HP:0000037)	1.99578461
55	Progressive cerebellar ataxia (HP:0002073)	1.99432327
56	Clumsiness (HP:0002312)	1.94017323
57	Cerebellar dysplasia (HP:0007033)	1.93991992
58	Congenital, generalized hypertrichosis (HP:0004540)	1.92364706
59	Retinal dysplasia (HP:0007973)	1.92089984
60	Bony spicule pigmentary retinopathy (HP:0007737)	1.91585114
61	Abnormal respiratory motile cilium physiology (HP:0012261)	1.91409317
62	Polyuria (HP:0000103)	1.91116212
63	Severe muscular hypotonia (HP:0006829)	1.89599958
64	Increased CSF lactate (HP:0002490)	1.88086574
65	Anterior segment dysgenesis (HP:0007700)	1.87991598
66	Aplasia/hypoplasia of the uterus (HP:0008684)	1.87508952
67	Patellar aplasia (HP:0006443)	1.86855801
68	Ketosis (HP:0001946)	1.86304258
69	Supernumerary spleens (HP:0009799)	1.85793045
70	Fair hair (HP:0002286)	1.85309559
71	Lissencephaly (HP:0001339)	1.84082956
72	Acute necrotizing encephalopathy (HP:0006965)	1.84003052
73	Congenital hepatic fibrosis (HP:0002612)	1.83409236
74	Ketoacidosis (HP:0001993)	1.82687087
75	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.82431577
76	Absent thumb (HP:0009777)	1.82091794
77	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.82027593
78	Abnormality of the renal collecting system (HP:0004742)	1.81560692
79	Duplicated collecting system (HP:0000081)	1.80646039
80	Aplasia/Hypoplasia of the macula (HP:0008059)	1.78633551
81	Aplasia/Hypoplasia of the patella (HP:0006498)	1.78025501
82	Abnormality of macular pigmentation (HP:0008002)	1.77660863
83	Abnormality of the pons (HP:0007361)	1.77479440
84	Optic disc pallor (HP:0000543)	1.76567738
85	Anencephaly (HP:0002323)	1.76424923
86	Hypoplasia of the uterus (HP:0000013)	1.75846928
87	Abnormality of the labia minora (HP:0012880)	1.75089195
88	Congenital sensorineural hearing impairment (HP:0008527)	1.74472697
89	Ventricular fibrillation (HP:0001663)	1.72310144
90	Progressive macrocephaly (HP:0004481)	1.71507906
91	Broad-based gait (HP:0002136)	1.68686544
92	Methylmalonic acidemia (HP:0002912)	1.68534061
93	Acute encephalopathy (HP:0006846)	1.68398083
94	Aplasia/Hypoplasia affecting the retina (HP:0008061)	1.65020477
95	Pachygyria (HP:0001302)	1.64208731
96	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.62119561
97	Mitochondrial inheritance (HP:0001427)	1.61668746
98	Genetic anticipation (HP:0003743)	1.60074924
99	Increased serum lactate (HP:0002151)	1.59965364
100	Abnormal spermatogenesis (HP:0008669)	1.59091443

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.19917189
2	PINK1	3.67176033
3	ADRBK2	3.20694397
4	ZAK	3.19950520
5	BMPR1B	3.10044193
6	WNK4	2.93399806
7	TAOK3	2.65475907
8	NUAK1	2.58880208
9	ACVR1B	2.55832470
10	GRK1	2.31697261
11	MAP4K2	2.20159163
12	INSRR	2.05183108
13	TLK1	1.92030480
14	MAPK13	1.74620523
15	NTRK3	1.53188446
16	EIF2AK3	1.50313553
17	WNK3	1.47482303
18	NME1	1.39457823
19	TNIK	1.38777939
20	TIE1	1.32947031
21	TGFBR1	1.32407899
22	PNCK	1.29506976
23	NEK2	1.25623320
24	DAPK2	1.21659767
25	MST4	1.20906762
26	PTK2B	1.20178104
27	MARK3	1.11601992
28	STK3	1.09277558
29	TEC	1.04646527
30	MAP3K13	1.02829312
31	RAF1	1.02669620
32	MAPKAPK3	1.01824509
33	MAP3K4	0.99617821
34	STK39	0.95244137
35	STK16	0.93761964
36	OXSR1	0.91495749
37	WNK1	0.90735913
38	ADRBK1	0.88556630
39	CASK	0.87916043
40	EIF2AK1	0.86513609
41	TXK	0.82648257
42	LATS1	0.82180566
43	KSR2	0.78097423
44	KSR1	0.77635294
45	PRKCQ	0.76977010
46	IKBKB	0.76212375
47	RIPK4	0.76024907
48	PAK3	0.75804385
49	MAP3K9	0.74787194
50	TTK	0.73852330
51	BCKDK	0.72794985
52	PIK3CA	0.72547751
53	MAP2K7	0.72295012
54	TRIM28	0.70830138
55	MAP2K6	0.69609553
56	RPS6KA5	0.68637179
57	PHKG1	0.68353589
58	PHKG2	0.68353589
59	PLK3	0.65365927
60	MAP3K2	0.65024511
61	PRKCI	0.63241818
62	MAP3K7	0.63136162
63	PLK4	0.62266850
64	TRPM7	0.62077148
65	MAPKAPK5	0.59726766
66	NEK6	0.58718196
67	CSNK1G1	0.57538661
68	CSNK1G2	0.56881408
69	MAP2K1	0.56441451
70	PLK2	0.56157748
71	CSNK1G3	0.54658854
72	PRKCG	0.54627328
73	CLK1	0.53746400
74	PLK1	0.52741641
75	PRKAA2	0.51881468
76	TNK2	0.51638219
77	IRAK1	0.51627639
78	VRK1	0.50777055
79	BMPR2	0.47706778
80	WEE1	0.47199951
81	MUSK	0.47174353
82	PRKCE	0.46350052
83	CAMKK2	0.46345706
84	CAMK1	0.45349924
85	DYRK2	0.44591867
86	CSNK1A1L	0.43662941
87	MKNK2	0.42487523
88	PKN1	0.42427278
89	NLK	0.40243720
90	BRSK2	0.39595146
91	MAPK15	0.39332004
92	PRKG1	0.38454365
93	ATM	0.38204603
94	CHEK2	0.36881171
95	CSNK1D	0.35114513
96	OBSCN	0.32308803
97	PRKAA1	0.31787517
98	PRKACA	0.30848860
99	SYK	0.29679128
100	PRKCZ	0.28551095

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	2.99331263
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.81177585
3	Basal transcription factors_Homo sapiens_hsa03022	2.72689260
4	Phototransduction_Homo sapiens_hsa04744	2.70293387
5	Butanoate metabolism_Homo sapiens_hsa00650	2.65276249
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.62169111
7	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.41546366
8	Homologous recombination_Homo sapiens_hsa03440	2.29325137
9	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.25415171
10	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.24988270
11	Olfactory transduction_Homo sapiens_hsa04740	2.19671253
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.10901314
13	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.00890764
14	Selenocompound metabolism_Homo sapiens_hsa00450	1.95789409
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.95562526
16	Fanconi anemia pathway_Homo sapiens_hsa03460	1.88026114
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.84099023
18	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.79480072
19	One carbon pool by folate_Homo sapiens_hsa00670	1.78228974
20	Oxidative phosphorylation_Homo sapiens_hsa00190	1.77172235
21	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.73182472
22	RNA polymerase_Homo sapiens_hsa03020	1.72406158
23	RNA degradation_Homo sapiens_hsa03018	1.71737612
24	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.59596286
25	Nicotine addiction_Homo sapiens_hsa05033	1.55186895
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.48000510
27	Caffeine metabolism_Homo sapiens_hsa00232	1.47572046
28	Tryptophan metabolism_Homo sapiens_hsa00380	1.45139152
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.44645461
30	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.43769312
31	ABC transporters_Homo sapiens_hsa02010	1.42499352
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.40564867
33	Parkinsons disease_Homo sapiens_hsa05012	1.39100490
34	Propanoate metabolism_Homo sapiens_hsa00640	1.33422123
35	Protein export_Homo sapiens_hsa03060	1.26339274
36	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.21981296
37	Taste transduction_Homo sapiens_hsa04742	1.21277156
38	Morphine addiction_Homo sapiens_hsa05032	1.17878610
39	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.14454986
40	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.12188305
41	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.10179802
42	Regulation of autophagy_Homo sapiens_hsa04140	1.08255547
43	Peroxisome_Homo sapiens_hsa04146	1.06280396
44	Insulin secretion_Homo sapiens_hsa04911	1.03902590
45	Huntingtons disease_Homo sapiens_hsa05016	0.99240165
46	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.96513964
47	Purine metabolism_Homo sapiens_hsa00230	0.94611983
48	Collecting duct acid secretion_Homo sapiens_hsa04966	0.93215990
49	Chemical carcinogenesis_Homo sapiens_hsa05204	0.91347459
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.90263307
51	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.87653394
52	Serotonergic synapse_Homo sapiens_hsa04726	0.86899816
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.86679697
54	Circadian entrainment_Homo sapiens_hsa04713	0.85546065
55	GABAergic synapse_Homo sapiens_hsa04727	0.85049167
56	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.84463681
57	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.80717603
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.80144753
59	Circadian rhythm_Homo sapiens_hsa04710	0.75065853
60	RNA transport_Homo sapiens_hsa03013	0.74703920
61	Glycerolipid metabolism_Homo sapiens_hsa00561	0.72334784
62	Steroid biosynthesis_Homo sapiens_hsa00100	0.72153040
63	Retinol metabolism_Homo sapiens_hsa00830	0.71933766
64	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.70724047
65	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.69470457
66	Metabolic pathways_Homo sapiens_hsa01100	0.67529884
67	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.67323937
68	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.66234023
69	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.65021211
70	Cardiac muscle contraction_Homo sapiens_hsa04260	0.62983657
71	Nucleotide excision repair_Homo sapiens_hsa03420	0.62843491
72	Alzheimers disease_Homo sapiens_hsa05010	0.61423771
73	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.60093317
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.59576635
75	Fat digestion and absorption_Homo sapiens_hsa04975	0.59073858
76	Mineral absorption_Homo sapiens_hsa04978	0.57188557
77	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.57054864
78	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.56446898
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.56406442
80	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.55846952
81	Mismatch repair_Homo sapiens_hsa03430	0.51723347
82	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.51482565
83	Pyrimidine metabolism_Homo sapiens_hsa00240	0.51238598
84	Salivary secretion_Homo sapiens_hsa04970	0.49246839
85	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.47425435
86	Glutamatergic synapse_Homo sapiens_hsa04724	0.45313737
87	Oocyte meiosis_Homo sapiens_hsa04114	0.42641089
88	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.41160611
89	Long-term depression_Homo sapiens_hsa04730	0.40412753
90	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.38107773
91	Sulfur relay system_Homo sapiens_hsa04122	0.37100388
92	Cell cycle_Homo sapiens_hsa04110	0.34992991
93	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.34089848
94	Arginine and proline metabolism_Homo sapiens_hsa00330	0.31765261
95	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.30317198
96	Gastric acid secretion_Homo sapiens_hsa04971	0.29652677
97	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28896400
98	Ribosome_Homo sapiens_hsa03010	0.27451273
99	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.27214316
100	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.27073585

RPL23AP87

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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