ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosomal small subunit assembly (GO:0000028)	8.06353758
2	maturation of SSU-rRNA (GO:0030490)	7.72493803
3	ribosomal small subunit biogenesis (GO:0042274)	6.99765599
4	embryonic skeletal joint morphogenesis (GO:0060272)	5.54852738
5	viral transcription (GO:0019083)	5.54713480
6	positive regulation of glycoprotein biosynthetic process (GO:0010560)	5.53785117
7	transcription from RNA polymerase I promoter (GO:0006360)	5.24545311
8	translational termination (GO:0006415)	5.17301399
9	ubiquinone biosynthetic process (GO:0006744)	4.81996029
10	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	4.81098131
11	chaperone-mediated protein transport (GO:0072321)	4.77779664
12	cotranslational protein targeting to membrane (GO:0006613)	4.74150253
13	protein targeting to ER (GO:0045047)	4.71147938
14	ubiquinone metabolic process (GO:0006743)	4.66741658
15	regulation of protein glycosylation (GO:0060049)	4.62997615
16	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	4.62278131
17	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	4.61297386
18	GTP biosynthetic process (GO:0006183)	4.59363248
19	translational elongation (GO:0006414)	4.49127368
20	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.47954663
21	ncRNA 3-end processing (GO:0043628)	4.45565477
22	positive regulation of glycoprotein metabolic process (GO:1903020)	4.44463218
23	protein localization to endoplasmic reticulum (GO:0070972)	4.39567726
24	regulation of interleukin-8 secretion (GO:2000482)	4.37970024
25	activated T cell proliferation (GO:0050798)	4.32254547
26	deoxyribose phosphate biosynthetic process (GO:0046385)	4.21077599
27	2-deoxyribonucleotide biosynthetic process (GO:0009265)	4.21077599
28	UTP biosynthetic process (GO:0006228)	4.20439867
29	diacylglycerol metabolic process (GO:0046339)	4.18918228
30	protein deneddylation (GO:0000338)	4.18175076
31	UTP metabolic process (GO:0046051)	4.18068386
32	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	4.03757410
33	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.99534099
34	protein-cofactor linkage (GO:0018065)	3.98760108
35	translational initiation (GO:0006413)	3.96378864
36	formation of translation preinitiation complex (GO:0001731)	3.96340267
37	protein heterotetramerization (GO:0051290)	3.92945332
38	quinone biosynthetic process (GO:1901663)	3.89859754
39	viral life cycle (GO:0019058)	3.87653302
40	cellular protein complex disassembly (GO:0043624)	3.84840858
41	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.71836178
42	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	3.69246212
43	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.69187446
44	behavioral response to nicotine (GO:0035095)	3.67476735
45	translation (GO:0006412)	3.63921764
46	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.63027426
47	cullin deneddylation (GO:0010388)	3.59543649
48	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.55591205
49	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.55591205
50	NADH dehydrogenase complex assembly (GO:0010257)	3.55591205
51	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	3.47933031
52	guanosine-containing compound biosynthetic process (GO:1901070)	3.42465118
53	CTP biosynthetic process (GO:0006241)	3.34493799
54	CTP metabolic process (GO:0046036)	3.34493799
55	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.34035964
56	ribonucleoprotein complex biogenesis (GO:0022613)	3.33640133
57	protein complex disassembly (GO:0043241)	3.24305398
58	respiratory electron transport chain (GO:0022904)	3.21763404
59	protein complex biogenesis (GO:0070271)	3.21106923
60	mitochondrial respiratory chain complex assembly (GO:0033108)	3.17661431
61	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	3.17210159
62	electron transport chain (GO:0022900)	3.13715020
63	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	3.13319660
64	cellular component biogenesis (GO:0044085)	3.12958513
65	pyrimidine nucleotide biosynthetic process (GO:0006221)	3.10248845
66	rRNA processing (GO:0006364)	3.09441580
67	termination of RNA polymerase III transcription (GO:0006386)	3.07514691
68	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.07514691
69	protein targeting to membrane (GO:0006612)	3.07388060
70	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.07356566
71	ATP synthesis coupled proton transport (GO:0015986)	3.07356566
72	isoprenoid biosynthetic process (GO:0008299)	3.05569207
73	macromolecular complex disassembly (GO:0032984)	3.03641756
74	rRNA metabolic process (GO:0016072)	3.02183023
75	deoxyribonucleotide biosynthetic process (GO:0009263)	3.01995765
76	heterochromatin organization (GO:0070828)	2.97879399
77	maturation of 5.8S rRNA (GO:0000460)	2.97662786
78	heterotypic cell-cell adhesion (GO:0034113)	2.97102639
79	chromatin remodeling at centromere (GO:0031055)	2.96174084
80	folic acid metabolic process (GO:0046655)	2.94225970
81	neuron fate specification (GO:0048665)	2.82614320
82	positive regulation of transcription regulatory region DNA binding (GO:2000679)	2.78032239
83	chromatin assembly (GO:0031497)	2.77241596
84	nonmotile primary cilium assembly (GO:0035058)	2.73835485
85	DNA replication-dependent nucleosome organization (GO:0034723)	2.72863810
86	DNA replication-dependent nucleosome assembly (GO:0006335)	2.72863810
87	nucleoside diphosphate phosphorylation (GO:0006165)	2.71436352
88	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.71134090
89	viral mRNA export from host cell nucleus (GO:0046784)	2.70987278
90	ribosome biogenesis (GO:0042254)	2.68113765
91	nuclear-transcribed mRNA catabolic process (GO:0000956)	2.68091511
92	mRNA catabolic process (GO:0006402)	2.64785417
93	oxidative phosphorylation (GO:0006119)	2.63736460
94	DNA deamination (GO:0045006)	2.62614147
95	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.62359801
96	cellular anion homeostasis (GO:0030002)	2.61659500
97	regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	2.58875473
98	nucleoside triphosphate biosynthetic process (GO:0009142)	2.57145801
99	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.54304783
100	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.54304783

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.34698788
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.98709113
3	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.98543918
4	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.64313613
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.47414143
6	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.14859615
7	CREB1_15753290_ChIP-ChIP_HEK293T_Human	3.12388558
8	NOTCH1_21737748_ChIP-Seq_TLL_Human	3.07526822
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.05681110
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.86613236
11	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.85501484
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.73622740
13	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.68784137
14	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.63651997
15	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.49388210
16	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.44425042
17	SRY_22984422_ChIP-ChIP_TESTIS_Rat	2.40580291
18	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.29021887
19	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.25001565
20	VDR_23849224_ChIP-Seq_CD4+_Human	2.24665513
21	XRN2_22483619_ChIP-Seq_HELA_Human	2.23685485
22	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.23313265
23	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.21078939
24	IRF1_19129219_ChIP-ChIP_H3396_Human	2.11651216
25	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	2.09205262
26	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.02100425
27	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.00259164
28	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.99022446
29	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.91265322
30	TTF2_22483619_ChIP-Seq_HELA_Human	1.91151629
31	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.90740413
32	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.77601935
33	EZH2_22144423_ChIP-Seq_EOC_Human	1.77442237
34	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.75425201
35	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.66725261
36	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.60149066
37	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.60043784
38	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.58954551
39	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.57597794
40	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.56711825
41	SMAD1_18555785_ChIP-Seq_MESCs_Mouse	1.56194512
42	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.54721008
43	ZNF274_21170338_ChIP-Seq_K562_Hela	1.54559963
44	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.52351706
45	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.50410225
46	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.50304013
47	FOXP3_21729870_ChIP-Seq_TREG_Human	1.49550990
48	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.42494712
49	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.41099816
50	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.39568333
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.39212796
52	DCP1A_22483619_ChIP-Seq_HELA_Human	1.33078436
53	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.32844842
54	VDR_22108803_ChIP-Seq_LS180_Human	1.32795584
55	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.32317550
56	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.31021818
57	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.29921251
58	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.28159329
59	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.27667276
60	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.27568379
61	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.27568379
62	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.27568379
63	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.26767461
64	GABP_19822575_ChIP-Seq_HepG2_Human	1.25517182
65	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.23145720
66	RNF2_27304074_Chip-Seq_NSC_Mouse	1.17530443
67	TAF2_19829295_ChIP-Seq_ESCs_Human	1.17409809
68	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.17126756
69	TCF3_18692474_ChIP-Seq_MEFs_Mouse	1.16901516
70	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.16562874
71	IGF1R_20145208_ChIP-Seq_DFB_Human	1.15909203
72	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.13154563
73	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.13045172
74	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.12233145
75	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.08385229
76	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.07426567
77	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.06400502
78	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.05049209
79	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.03443678
80	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.03234611
81	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.01487071
82	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.01438176
83	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.00087819
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.98595978
85	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.97896689
86	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.97819079
87	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.97595721
88	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.96083455
89	FOXM1_23109430_ChIP-Seq_U2OS_Human	0.94832914
90	GFI1B_20887958_ChIP-Seq_HPC-7_Mouse	0.93038877
91	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.91820818
92	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.90695688
93	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.89743154
94	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.89542350
95	EWS_26573619_Chip-Seq_HEK293_Human	0.88760445
96	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.88699753
97	ELK1_19687146_ChIP-ChIP_HELA_Human	0.86861435
98	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.85852001
99	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.84738245
100	CTCF_20526341_ChIP-Seq_ESCs_Human	0.83873034

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002277_abnormal_respiratory_mucosa	3.31447471
2	MP0001727_abnormal_embryo_implantation	3.06311047
3	MP0001529_abnormal_vocalization	3.04215147
4	MP0002933_joint_inflammation	2.98272583
5	MP0003646_muscle_fatigue	2.97101123
6	MP0003941_abnormal_skin_development	2.92173705
7	MP0003136_yellow_coat_color	2.70815379
8	MP0003693_abnormal_embryo_hatching	2.58878277
9	MP0005253_abnormal_eye_physiology	2.34957489
10	MP0001851_eye_inflammation	2.27764935
11	MP0003315_abnormal_perineum_morphology	2.27004678
12	MP0006292_abnormal_olfactory_placode	2.26338532
13	MP0009697_abnormal_copulation	2.23726656
14	MP0000537_abnormal_urethra_morphology	2.16990664
15	MP0003011_delayed_dark_adaptation	2.16543256
16	MP0008789_abnormal_olfactory_epithelium	2.06877576
17	MP0000049_abnormal_middle_ear	2.02168112
18	MP0010386_abnormal_urinary_bladder	2.01422048
19	MP0003123_paternal_imprinting	1.92054049
20	MP0001905_abnormal_dopamine_level	1.82865132
21	MP0000631_abnormal_neuroendocrine_gland	1.75440371
22	MP0009379_abnormal_foot_pigmentation	1.74217613
23	MP0005645_abnormal_hypothalamus_physiol	1.72894067
24	MP0003937_abnormal_limbs/digits/tail_de	1.57760765
25	MP0005671_abnormal_response_to	1.56451804
26	MP0005451_abnormal_body_composition	1.55935463
27	MP0009250_abnormal_appendicular_skeleto	1.48686663
28	MP0003122_maternal_imprinting	1.44862443
29	MP0006072_abnormal_retinal_apoptosis	1.38642213
30	MP0006082_CNS_inflammation	1.38272655
31	MP0008260_abnormal_autophagy	1.37776771
32	MP0000538_abnormal_urinary_bladder	1.34497111
33	MP0005408_hypopigmentation	1.33321102
34	MP0002938_white_spotting	1.32981951
35	MP0005499_abnormal_olfactory_system	1.29710510
36	MP0005394_taste/olfaction_phenotype	1.29710510
37	MP0004142_abnormal_muscle_tone	1.29538962
38	MP0002160_abnormal_reproductive_system	1.29270373
39	MP0006036_abnormal_mitochondrial_physio	1.26969800
40	MP0008058_abnormal_DNA_repair	1.23787480
41	MP0008007_abnormal_cellular_replicative	1.22704487
42	MP0003195_calcinosis	1.22033219
43	MP0003111_abnormal_nucleus_morphology	1.20555769
44	MP0001293_anophthalmia	1.20310936
45	MP0003186_abnormal_redox_activity	1.20130202
46	MP0001968_abnormal_touch/_nociception	1.19174720
47	MP0000678_abnormal_parathyroid_gland	1.17063058
48	MP0006035_abnormal_mitochondrial_morpho	1.16342421
49	MP0009046_muscle_twitch	1.16216743
50	MP0008872_abnormal_physiological_respon	1.12123546
51	MP0002210_abnormal_sex_determination	1.09785604
52	MP0004957_abnormal_blastocyst_morpholog	1.09566369
53	MP0003137_abnormal_impulse_conducting	1.07957682
54	MP0004858_abnormal_nervous_system	1.07655217
55	MP0005391_vision/eye_phenotype	1.06564854
56	MP0002653_abnormal_ependyma_morphology	1.05046205
57	MP0005595_abnormal_vascular_smooth	1.04126639
58	MP0002115_abnormal_skeleton_extremities	1.04028188
59	MP0005386_behavior/neurological_phenoty	1.01695891
60	MP0004924_abnormal_behavior	1.01695891
61	MP0003567_abnormal_fetal_cardiomyocyte	1.01657494
62	MP0002148_abnormal_hypersensitivity_rea	1.01299070
63	MP0005410_abnormal_fertilization	0.98723271
64	MP0009333_abnormal_splenocyte_physiolog	0.98238212
65	MP0008932_abnormal_embryonic_tissue	0.97907397
66	MP0009053_abnormal_anal_canal	0.97849029
67	MP0009785_altered_susceptibility_to	0.97790208
68	MP0010094_abnormal_chromosome_stability	0.97433462
69	MP0002638_abnormal_pupillary_reflex	0.95586117
70	MP0002163_abnormal_gland_morphology	0.94827072
71	MP0004885_abnormal_endolymph	0.93950008
72	MP0003755_abnormal_palate_morphology	0.93872578
73	MP0002234_abnormal_pharynx_morphology	0.93704622
74	MP0002282_abnormal_trachea_morphology	0.92787794
75	MP0000647_abnormal_sebaceous_gland	0.92377632
76	MP0005197_abnormal_uvea_morphology	0.91710368
77	MP0002876_abnormal_thyroid_physiology	0.91685493
78	MP0005000_abnormal_immune_tolerance	0.90878750
79	MP0000750_abnormal_muscle_regeneration	0.90661609
80	MP0008873_increased_physiological_sensi	0.89732198
81	MP0001986_abnormal_taste_sensitivity	0.89154605
82	MP0002132_abnormal_respiratory_system	0.88683106
83	MP0001346_abnormal_lacrimal_gland	0.88418184
84	MP0005187_abnormal_penis_morphology	0.87654601
85	MP0003718_maternal_effect	0.87447493
86	MP0002249_abnormal_larynx_morphology	0.84209354
87	MP0000639_abnormal_adrenal_gland	0.80356168
88	MP0002095_abnormal_skin_pigmentation	0.79711952
89	MP0001485_abnormal_pinna_reflex	0.79622130
90	MP0003077_abnormal_cell_cycle	0.76859606
91	MP0006276_abnormal_autonomic_nervous	0.73291161
92	MP0001145_abnormal_male_reproductive	0.72224839
93	MP0005195_abnormal_posterior_eye	0.72183471
94	MP0005025_abnormal_response_to	0.71017380
95	MP0003786_premature_aging	0.70572466
96	MP0000230_abnormal_systemic_arterial	0.70144492
97	MP0005389_reproductive_system_phenotype	0.70013673
98	MP0004133_heterotaxia	0.67289568
99	MP0001929_abnormal_gametogenesis	0.67008626
100	MP0008995_early_reproductive_senescence	0.66919895

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.23061820
2	Recurrent gram-negative bacterial infections (HP:0005420)	6.04970603
3	Abnormality of alanine metabolism (HP:0010916)	4.93330138
4	Hyperalaninemia (HP:0003348)	4.93330138
5	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	4.93330138
6	Chronic bronchitis (HP:0004469)	4.61008911
7	Aplasia/hypoplasia of the uterus (HP:0008684)	4.57772970
8	Acute necrotizing encephalopathy (HP:0006965)	4.52254105
9	Periodontitis (HP:0000704)	4.34659185
10	Abnormal mitochondria in muscle tissue (HP:0008316)	4.23947303
11	Hypoplasia of the uterus (HP:0000013)	4.08023141
12	Nasal speech (HP:0001611)	3.79898937
13	Acute encephalopathy (HP:0006846)	3.71528344
14	Aplasia/Hypoplasia of the sacrum (HP:0008517)	3.70057644
15	Septo-optic dysplasia (HP:0100842)	3.59126226
16	Progressive macrocephaly (HP:0004481)	3.58632575
17	Mitochondrial inheritance (HP:0001427)	3.37919471
18	Sparse scalp hair (HP:0002209)	3.30588751
19	Abnormality of the intervertebral disk (HP:0005108)	3.27982783
20	Hyperglycinemia (HP:0002154)	3.23063524
21	Recurrent abscess formation (HP:0002722)	3.22305734
22	Congenital, generalized hypertrichosis (HP:0004540)	3.18338172
23	Abnormal respiratory motile cilium physiology (HP:0012261)	3.01484088
24	Leukocytosis (HP:0001974)	2.97792199
25	Increased CSF lactate (HP:0002490)	2.95586142
26	Macrocytic anemia (HP:0001972)	2.95471122
27	3-Methylglutaconic aciduria (HP:0003535)	2.86332770
28	Cerebellar dysplasia (HP:0007033)	2.82538269
29	Increased serum lactate (HP:0002151)	2.66429474
30	Birth length less than 3rd percentile (HP:0003561)	2.62694346
31	Concave nail (HP:0001598)	2.58929186
32	Cerebral edema (HP:0002181)	2.52869110
33	Abnormality of serum amino acid levels (HP:0003112)	2.52066187
34	Maternal diabetes (HP:0009800)	2.50669860
35	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.48244503
36	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.48244503
37	Reticulocytopenia (HP:0001896)	2.46815552
38	Hepatocellular necrosis (HP:0001404)	2.46469716
39	Gingivitis (HP:0000230)	2.42020593
40	Abnormality of serine family amino acid metabolism (HP:0010894)	2.35769880
41	Abnormality of glycine metabolism (HP:0010895)	2.35769880
42	Cortical visual impairment (HP:0100704)	2.34897771
43	Hyperglycinuria (HP:0003108)	2.31683319
44	Recurrent otitis media (HP:0000403)	2.30755380
45	Deep philtrum (HP:0002002)	2.30609558
46	Partial duplication of the phalanx of hand (HP:0009999)	2.30573530
47	Hypoplasia of the radius (HP:0002984)	2.25719062
48	Autoimmune hemolytic anemia (HP:0001890)	2.25543498
49	Abnormal number of erythroid precursors (HP:0012131)	2.23156774
50	Pallor (HP:0000980)	2.20873909
51	Autoimmune thrombocytopenia (HP:0001973)	2.19752727
52	Partial agenesis of the corpus callosum (HP:0001338)	2.19441571
53	Fibular aplasia (HP:0002990)	2.19040838
54	Bronchitis (HP:0012387)	2.18967581
55	Severe muscular hypotonia (HP:0006829)	2.17985287
56	Rhinitis (HP:0012384)	2.16894457
57	Aplasia/Hypoplasia of the patella (HP:0006498)	2.16321190
58	Absent septum pellucidum (HP:0001331)	2.15881775
59	Abnormality of eosinophils (HP:0001879)	2.14856420
60	Abnormality of cells of the erythroid lineage (HP:0012130)	2.13966321
61	Optic disc pallor (HP:0000543)	2.13892792
62	Absent thumb (HP:0009777)	2.10082038
63	Increased hepatocellular lipid droplets (HP:0006565)	2.09947838
64	Leukodystrophy (HP:0002415)	2.08082487
65	Increased IgM level (HP:0003496)	2.07257784
66	Hepatic necrosis (HP:0002605)	2.07146278
67	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.05531675
68	Respiratory difficulties (HP:0002880)	2.03821913
69	Lactic acidosis (HP:0003128)	2.03084771
70	Constricted visual fields (HP:0001133)	2.01259861
71	Large for gestational age (HP:0001520)	1.98885328
72	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	1.98866580
73	Patellar aplasia (HP:0006443)	1.94137567
74	Increased intramyocellular lipid droplets (HP:0012240)	1.93701327
75	Abnormality of the septum pellucidum (HP:0007375)	1.91637310
76	Abnormal sex determination (HP:0012244)	1.90638686
77	Sex reversal (HP:0012245)	1.90638686
78	Pancreatic cysts (HP:0001737)	1.89305902
79	Esophageal atresia (HP:0002032)	1.88877415
80	Increased serum pyruvate (HP:0003542)	1.88124858
81	Molar tooth sign on MRI (HP:0002419)	1.87160672
82	Abnormality of midbrain morphology (HP:0002418)	1.87160672
83	Exertional dyspnea (HP:0002875)	1.86501830
84	Abnormality of the renal collecting system (HP:0004742)	1.84602409
85	Eosinophilia (HP:0001880)	1.83088096
86	Anencephaly (HP:0002323)	1.82809920
87	Horseshoe kidney (HP:0000085)	1.80292742
88	Respiratory failure (HP:0002878)	1.79555943
89	Abnormality of the pons (HP:0007361)	1.76819861
90	Nephronophthisis (HP:0000090)	1.75818549
91	Brushfield spots (HP:0001088)	1.75362502
92	Megaloblastic anemia (HP:0001889)	1.75229637
93	Poor head control (HP:0002421)	1.70350307
94	Squamous cell carcinoma (HP:0002860)	1.68625846
95	Abnormality of glycolysis (HP:0004366)	1.67527133
96	Facial shape deformation (HP:0011334)	1.66136987
97	Potter facies (HP:0002009)	1.66136987
98	Lipid accumulation in hepatocytes (HP:0006561)	1.65060339
99	True hermaphroditism (HP:0010459)	1.64531048
100	Radial bowing (HP:0002986)	1.64010631

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PBK	6.25552176
2	BUB1	4.94182663
3	INSRR	4.42655976
4	PNCK	3.68811463
5	ZAK	3.66934112
6	PRKCH	3.38465309
7	TLK1	3.00054709
8	VRK1	2.69262793
9	PDK2	2.47665462
10	ICK	2.32241669
11	TSSK6	2.14028056
12	WEE1	2.01592872
13	ARAF	2.00650706
14	SRPK1	1.84319418
15	STK16	1.83993031
16	TYRO3	1.83754528
17	CAMKK2	1.60437010
18	PASK	1.43847277
19	FES	1.42482854
20	MAPK15	1.37851785
21	KDR	1.33383329
22	VRK2	1.33358292
23	NME1	1.26802640
24	DAPK1	1.26260778
25	TAF1	1.19245659
26	NME2	1.14556184
27	RPS6KA5	1.10686121
28	TXK	1.04217643
29	AURKA	1.00306395
30	NEK1	0.97919253
31	STK4	0.95218339
32	BCKDK	0.95037079
33	PIM2	0.93291064
34	MAP4K1	0.92099239
35	PRKD3	0.91477856
36	MAP3K4	0.83916880
37	MAP3K8	0.82219338
38	CCNB1	0.80813134
39	PINK1	0.79641255
40	MAPKAPK5	0.77376418
41	DYRK2	0.74953870
42	BRSK2	0.72846576
43	CAMKK1	0.71502464
44	DAPK3	0.70571271
45	CDC7	0.69016522
46	PLK1	0.67751085
47	PLK3	0.67445524
48	MAPK4	0.65233142
49	BMPR1B	0.62916806
50	PRKCQ	0.61758615
51	RPS6KA6	0.61603660
52	BRSK1	0.59496166
53	IRAK1	0.57728546
54	MAP3K9	0.55507611
55	IRAK4	0.55251687
56	MAP2K6	0.54410699
57	ADRBK1	0.54202896
58	MAP4K2	0.53275489
59	CDK19	0.52608402
60	WNK4	0.52258163
61	AURKB	0.52177717
62	CAMK1G	0.50815485
63	TTK	0.50656917
64	EPHA3	0.50142495
65	CSNK1G3	0.48576381
66	CHEK2	0.48259265
67	PKN1	0.48114802
68	AKT2	0.45024218
69	CSK	0.45000371
70	STK24	0.44818110
71	ATR	0.44646337
72	MAP2K3	0.44597270
73	SMG1	0.42728736
74	BRAF	0.41720937
75	PRKCD	0.41237271
76	CSNK2A1	0.40681930
77	CAMK1D	0.40653671
78	CSNK1G2	0.39971727
79	IRAK2	0.39730728
80	GRK1	0.38398314
81	IRAK3	0.38393503
82	WNK3	0.36936596
83	LRRK2	0.36421804
84	MAP3K11	0.36254113
85	LCK	0.35986007
86	MAP2K4	0.34518904
87	ADRBK2	0.32769198
88	PTK2B	0.32423934
89	RAF1	0.31732342
90	ABL2	0.31170291
91	GSK3A	0.30083890
92	CSNK1G1	0.29873617
93	PRKG2	0.29751752
94	ATM	0.29563400
95	KSR2	0.28902647
96	ALK	0.28860616
97	STK10	0.27970630
98	CSNK1A1L	0.27794919
99	CAMK2B	0.27782674
100	MKNK1	0.27730409

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	RNA polymerase_Homo sapiens_hsa03020	5.59036062
2	Ribosome_Homo sapiens_hsa03010	4.91217310
3	Systemic lupus erythematosus_Homo sapiens_hsa05322	3.14597303
4	Parkinsons disease_Homo sapiens_hsa05012	2.87944083
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.81964054
6	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.72566626
7	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.68776033
8	Proteasome_Homo sapiens_hsa03050	2.43338796
9	Pyrimidine metabolism_Homo sapiens_hsa00240	2.43253116
10	Legionellosis_Homo sapiens_hsa05134	2.12124850
11	Alcoholism_Homo sapiens_hsa05034	2.03971698
12	DNA replication_Homo sapiens_hsa03030	2.02512125
13	Viral myocarditis_Homo sapiens_hsa05416	1.91657739
14	Protein export_Homo sapiens_hsa03060	1.90525483
15	Huntingtons disease_Homo sapiens_hsa05016	1.89790269
16	Spliceosome_Homo sapiens_hsa03040	1.81886009
17	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.79544784
18	Purine metabolism_Homo sapiens_hsa00230	1.75275833
19	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.66869180
20	One carbon pool by folate_Homo sapiens_hsa00670	1.57621712
21	Sulfur relay system_Homo sapiens_hsa04122	1.55734305
22	Alzheimers disease_Homo sapiens_hsa05010	1.53177170
23	Graft-versus-host disease_Homo sapiens_hsa05332	1.47769529
24	Primary immunodeficiency_Homo sapiens_hsa05340	1.44366509
25	Allograft rejection_Homo sapiens_hsa05330	1.34028037
26	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.33368481
27	Type I diabetes mellitus_Homo sapiens_hsa04940	1.33233713
28	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.28962279
29	Malaria_Homo sapiens_hsa05144	1.26815094
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.25387807
31	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.24783501
32	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.23740641
33	Glutathione metabolism_Homo sapiens_hsa00480	1.21651626
34	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.19447998
35	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.16582254
36	Base excision repair_Homo sapiens_hsa03410	1.13110373
37	Basal transcription factors_Homo sapiens_hsa03022	1.11359821
38	Pertussis_Homo sapiens_hsa05133	1.04939697
39	Leishmaniasis_Homo sapiens_hsa05140	1.04727680
40	RNA transport_Homo sapiens_hsa03013	1.04030764
41	Linoleic acid metabolism_Homo sapiens_hsa00591	0.97965205
42	Chemical carcinogenesis_Homo sapiens_hsa05204	0.96675531
43	Fat digestion and absorption_Homo sapiens_hsa04975	0.96254769
44	Rheumatoid arthritis_Homo sapiens_hsa05323	0.94445935
45	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.94356938
46	Mismatch repair_Homo sapiens_hsa03430	0.93348451
47	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.92202807
48	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.89140948
49	Nitrogen metabolism_Homo sapiens_hsa00910	0.88325897
50	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.84828300
51	RNA degradation_Homo sapiens_hsa03018	0.83762276
52	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.81096086
53	Arginine and proline metabolism_Homo sapiens_hsa00330	0.80276768
54	Nucleotide excision repair_Homo sapiens_hsa03420	0.79282677
55	Antigen processing and presentation_Homo sapiens_hsa04612	0.78567043
56	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.73641949
57	Homologous recombination_Homo sapiens_hsa03440	0.73262078
58	Steroid biosynthesis_Homo sapiens_hsa00100	0.71321844
59	Cardiac muscle contraction_Homo sapiens_hsa04260	0.68987635
60	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.68362078
61	Phototransduction_Homo sapiens_hsa04744	0.66451336
62	Pyruvate metabolism_Homo sapiens_hsa00620	0.64237306
63	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.61813716
64	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.59842816
65	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.57986179
66	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.57372714
67	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.56271138
68	Metabolic pathways_Homo sapiens_hsa01100	0.54424082
69	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.53714975
70	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.52206635
71	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.50480512
72	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49691463
73	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.49054502
74	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.48755091
75	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.48451445
76	Viral carcinogenesis_Homo sapiens_hsa05203	0.48347748
77	Fanconi anemia pathway_Homo sapiens_hsa03460	0.47106936
78	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.46131484
79	Prion diseases_Homo sapiens_hsa05020	0.45932826
80	Carbon metabolism_Homo sapiens_hsa01200	0.42612915
81	Taste transduction_Homo sapiens_hsa04742	0.38506502
82	Cell cycle_Homo sapiens_hsa04110	0.38265010
83	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.38238373
84	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.35857319
85	African trypanosomiasis_Homo sapiens_hsa05143	0.35306069
86	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.35222670
87	Nicotine addiction_Homo sapiens_hsa05033	0.34570589
88	Arginine biosynthesis_Homo sapiens_hsa00220	0.32624405
89	Complement and coagulation cascades_Homo sapiens_hsa04610	0.32183713
90	Basal cell carcinoma_Homo sapiens_hsa05217	0.29516293
91	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.29109521
92	p53 signaling pathway_Homo sapiens_hsa04115	0.28149037
93	Peroxisome_Homo sapiens_hsa04146	0.27172973
94	Sulfur metabolism_Homo sapiens_hsa00920	0.25420542
95	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.20600130
96	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.20170961
97	Phenylalanine metabolism_Homo sapiens_hsa00360	0.18733887
98	Bladder cancer_Homo sapiens_hsa05219	0.17020383
99	Butanoate metabolism_Homo sapiens_hsa00650	0.16675723
100	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.16412315

CYCSP45

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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