ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	acrosome reaction (GO:0007340)	8.43868822
2	sperm motility (GO:0030317)	8.30589671
3	fusion of sperm to egg plasma membrane (GO:0007342)	8.21641761
4	chromosome condensation (GO:0030261)	7.90749960
5	sperm capacitation (GO:0048240)	7.77692936
6	DNA packaging (GO:0006323)	7.47852592
7	plasma membrane fusion (GO:0045026)	6.04966130
8	microtubule depolymerization (GO:0007019)	5.63181307
9	spermatid nucleus differentiation (GO:0007289)	5.45751917
10	spermatid development (GO:0007286)	5.42111325
11	sexual reproduction (GO:0019953)	5.27233034
12	negative regulation of inclusion body assembly (GO:0090084)	5.08999926
13	response to pheromone (GO:0019236)	4.95035684
14	single strand break repair (GO:0000012)	4.94061152
15	microtubule severing (GO:0051013)	4.84459700
16	microtubule polymerization or depolymerization (GO:0031109)	4.83881205
17	sperm-egg recognition (GO:0035036)	4.81978138
18	phosphatidylethanolamine biosynthetic process (GO:0006646)	4.76856638
19	calcium ion-dependent exocytosis (GO:0017156)	4.75156700
20	regulation of Rab GTPase activity (GO:0032313)	4.67199135
21	positive regulation of Rab GTPase activity (GO:0032851)	4.67199135
22	multicellular organism reproduction (GO:0032504)	4.63412094
23	protein polyglutamylation (GO:0018095)	4.60511673
24	reproduction (GO:0000003)	4.60462395
25	rRNA methylation (GO:0031167)	4.49035432
26	chromatin silencing (GO:0006342)	4.48110611
27	binding of sperm to zona pellucida (GO:0007339)	4.44293049
28	protein-DNA complex disassembly (GO:0032986)	4.33361026
29	nucleosome disassembly (GO:0006337)	4.33361026
30	phosphatidylethanolamine metabolic process (GO:0046337)	4.33041099
31	protein targeting to Golgi (GO:0000042)	4.15480034
32	endothelial cell chemotaxis (GO:0035767)	4.13235137
33	spermatogenesis (GO:0007283)	4.05919121
34	male gamete generation (GO:0048232)	4.04336299
35	centriole replication (GO:0007099)	4.00746423
36	mitotic G1 DNA damage checkpoint (GO:0031571)	3.99554485
37	establishment of protein localization to Golgi (GO:0072600)	3.96085838
38	regulation of histone H3-K27 methylation (GO:0061085)	3.95686082
39	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.95650103
40	axonemal dynein complex assembly (GO:0070286)	3.91554229
41	nucleus organization (GO:0006997)	3.89973174
42	cell-cell recognition (GO:0009988)	3.88795641
43	regulation of transcription involved in cell fate commitment (GO:0060850)	3.88000093
44	regulation of inclusion body assembly (GO:0090083)	3.85405968
45	peptidyl-threonine dephosphorylation (GO:0035970)	3.79119205
46	G1 DNA damage checkpoint (GO:0044783)	3.76215040
47	regulation of centriole replication (GO:0046599)	3.74897882
48	RNA localization (GO:0006403)	3.69468947
49	gamete generation (GO:0007276)	3.67516313
50	negative regulation of histone methylation (GO:0031061)	3.66915141
51	centriole assembly (GO:0098534)	3.62965360
52	regulation of somitogenesis (GO:0014807)	3.53921434
53	insulin-like growth factor receptor signaling pathway (GO:0048009)	3.53579588
54	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.53529010
55	motile cilium assembly (GO:0044458)	3.52453079
56	rRNA modification (GO:0000154)	3.52102885
57	mitotic G1/S transition checkpoint (GO:0044819)	3.46698144
58	musculoskeletal movement (GO:0050881)	3.41338155
59	multicellular organismal movement (GO:0050879)	3.41338155
60	cytoskeletal anchoring at plasma membrane (GO:0007016)	3.39671608
61	histone H3-K9 demethylation (GO:0033169)	3.35549209
62	DNA conformation change (GO:0071103)	3.28605436
63	negative regulation of gene expression, epigenetic (GO:0045814)	3.25807205
64	single fertilization (GO:0007338)	3.20060439
65	vesicle transport along microtubule (GO:0047496)	3.17472034
66	nuclear pore complex assembly (GO:0051292)	3.14115670
67	peptidyl-proline hydroxylation (GO:0019511)	3.11711903
68	regulation of ARF GTPase activity (GO:0032312)	3.11705666
69	intracellular estrogen receptor signaling pathway (GO:0030520)	3.11629246
70	microtubule nucleation (GO:0007020)	3.09453528
71	cerebral cortex neuron differentiation (GO:0021895)	3.09045897
72	regulation of cilium movement (GO:0003352)	3.08309209
73	positive regulation of histone deacetylation (GO:0031065)	3.03904029
74	cellular process involved in reproduction in multicellular organism (GO:0022412)	3.02675741
75	response to acidic pH (GO:0010447)	3.02056137
76	multicellular organismal reproductive process (GO:0048609)	3.00246278
77	germ cell development (GO:0007281)	2.92162285
78	coronary vasculature morphogenesis (GO:0060977)	2.90170281
79	establishment of apical/basal cell polarity (GO:0035089)	2.84337841
80	protein localization to Golgi apparatus (GO:0034067)	2.83183359
81	planar cell polarity pathway involved in neural tube closure (GO:0090179)	2.80937545
82	polyamine biosynthetic process (GO:0006596)	2.78206406
83	receptor recycling (GO:0001881)	2.77240117
84	metanephric mesenchyme development (GO:0072075)	2.77110055
85	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.76892804
86	cochlea morphogenesis (GO:0090103)	2.74348907
87	peptidyl-lysine dimethylation (GO:0018027)	2.70407890
88	establishment of planar polarity (GO:0001736)	2.68218796
89	establishment of tissue polarity (GO:0007164)	2.68218796
90	Golgi to endosome transport (GO:0006895)	2.67618886
91	neuronal ion channel clustering (GO:0045161)	2.66898751
92	coenzyme catabolic process (GO:0009109)	2.65932757
93	protein depolymerization (GO:0051261)	2.65610678
94	sodium ion export (GO:0071436)	2.65559569
95	membrane protein intracellular domain proteolysis (GO:0031293)	2.65472915
96	camera-type eye morphogenesis (GO:0048593)	2.65132465
97	negative regulation of organelle assembly (GO:1902116)	2.64210941
98	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	2.63766035
99	mesenchymal cell differentiation involved in kidney development (GO:0072161)	2.61860452
100	mesenchymal cell differentiation involved in renal system development (GO:2001012)	2.61860452

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.79890574
2	STAT6_21828071_ChIP-Seq_BEAS2B_Human	3.98528063
3	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	3.86935223
4	LXR_22292898_ChIP-Seq_THP-1_Human	2.92851694
5	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.54048523
6	P68_20966046_ChIP-Seq_HELA_Human	2.37073434
7	SMC4_20622854_ChIP-Seq_HELA_Human	2.35619887
8	ELF1_20517297_ChIP-Seq_JURKAT_Human	2.23441812
9	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.19321540
10	CTCF_27219007_Chip-Seq_Bcells_Human	2.17027225
11	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.93410127
12	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.92453891
13	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.91034818
14	DROSHA_22980978_ChIP-Seq_HELA_Human	1.86739850
15	KDM2B_26808549_Chip-Seq_K562_Human	1.81026961
16	TP63_22573176_ChIP-Seq_HFKS_Human	1.76661802
17	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.75131533
18	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.72555211
19	PHF8_20622854_ChIP-Seq_HELA_Human	1.71466121
20	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.69992444
21	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.69314162
22	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.68421313
23	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.65133310
24	TCF7_22412390_ChIP-Seq_EML_Mouse	1.63736880
25	TP53_22127205_ChIP-Seq_IMR90_Human	1.62839829
26	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.61028353
27	MYC_22102868_ChIP-Seq_BL_Human	1.59849070
28	KDM2B_26808549_Chip-Seq_DND41_Human	1.59133536
29	E2F1_20622854_ChIP-Seq_HELA_Human	1.58876931
30	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.58104027
31	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.55331787
32	RACK7_27058665_Chip-Seq_MCF-7_Human	1.53957008
33	BCOR_27268052_Chip-Seq_Bcells_Human	1.52431206
34	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.50758688
35	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.48257487
36	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.48013299
37	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.47925701
38	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.47172557
39	BCL6_27268052_Chip-Seq_Bcells_Human	1.46208174
40	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.45132269
41	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.43113049
42	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.40579128
43	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.39088445
44	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.38621245
45	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.38016636
46	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.34318920
47	CTCF_20526341_ChIP-Seq_ESCs_Human	1.34295446
48	SA1_27219007_Chip-Seq_Bcells_Human	1.34178890
49	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.34053570
50	RAC3_21632823_ChIP-Seq_H3396_Human	1.33539856
51	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.33511568
52	RUNX1_26923725_Chip-Seq_HPCs_Mouse	1.31525783
53	ERA_21632823_ChIP-Seq_H3396_Human	1.30692884
54	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.30621075
55	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.30560532
56	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.30286418
57	KDM2B_26808549_Chip-Seq_HPB-ALL_Human	1.29943099
58	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.29653808
59	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.29159816
60	CREB1_26743006_Chip-Seq_LNCaP_Human	1.28472569
61	ZFP281_27345836_Chip-Seq_ESCs_Mouse	1.28346154
62	KDM2B_26808549_Chip-Seq_JURKAT_Human	1.28153313
63	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.26242739
64	P300_27058665_Chip-Seq_ZR-75-30cells_Human	1.26001379
65	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.24406860
66	FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.24281918
67	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.24196477
68	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.23697522
69	TET1_21490601_ChIP-Seq_MESCs_Mouse	1.23630464
70	SOX11_22085726_ChIP-Seq_ESNs_Mouse	1.21569348
71	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.20734246
72	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.20679233
73	VDR_21846776_ChIP-Seq_THP-1_Human	1.19954089
74	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.19440933
75	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.17982827
76	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.15350625
77	OCT4_19829295_ChIP-Seq_ESCs_Human	1.14284514
78	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.13963512
79	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.13254270
80	MAF_26560356_Chip-Seq_TH2_Human	1.13040797
81	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.12415954
82	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.12393866
83	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.12388005
84	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.11993442
85	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.11450411
86	KLF5_25053715_ChIP-Seq_YYC3_Human	1.11291496
87	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.09074931
88	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.07904770
89	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.07374452
90	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.05276335
91	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.04330470
92	EZH2_22144423_ChIP-Seq_EOC_Human	1.04252180
93	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.02726713
94	JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse	1.01793225
95	MITF_21258399_ChIP-Seq_MELANOMA_Human	1.01651089
96	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.01173894
97	AR_21572438_ChIP-Seq_LNCaP_Human	1.01135311
98	CTCF_21964334_Chip-Seq_Bcells_Human	1.01017123
99	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	0.99798312
100	MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse	0.98205551

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	8.00746164
2	MP0005670_abnormal_white_adipose	5.08427534
3	MP0005377_hearing/vestibular/ear_phenot	3.82014352
4	MP0003878_abnormal_ear_physiology	3.82014352
5	MP0001348_abnormal_lacrimal_gland	3.38707964
6	MP0003705_abnormal_hypodermis_morpholog	3.33924468
7	MP0004859_abnormal_synaptic_plasticity	3.01172511
8	MP0003698_abnormal_male_reproductive	3.00822300
9	MP0005451_abnormal_body_composition	2.72106922
10	MP0000678_abnormal_parathyroid_gland	2.66787551
11	MP0005423_abnormal_somatic_nervous	2.61831550
12	MP0001929_abnormal_gametogenesis	2.47925322
13	MP0004233_abnormal_muscle_weight	1.93629849
14	MP0005503_abnormal_tendon_morphology	1.89510859
15	MP0002161_abnormal_fertility/fecundity	1.84962574
16	MP0002249_abnormal_larynx_morphology	1.82432213
17	MP0009053_abnormal_anal_canal	1.80922201
18	MP0002877_abnormal_melanocyte_morpholog	1.78694263
19	MP0005409_darkened_coat_color	1.75817849
20	MP0003693_abnormal_embryo_hatching	1.67423543
21	MP0002735_abnormal_chemical_nociception	1.62051648
22	MP0005076_abnormal_cell_differentiation	1.47999017
23	MP0005666_abnormal_adipose_tissue	1.47710265
24	MP0000003_abnormal_adipose_tissue	1.47656400
25	MP0000534_abnormal_ureter_morphology	1.47524602
26	MP0002234_abnormal_pharynx_morphology	1.47026135
27	MP0005623_abnormal_meninges_morphology	1.42446071
28	MP0003091_abnormal_cell_migration	1.36945893
29	MP0000733_abnormal_muscle_development	1.35030489
30	MP0005375_adipose_tissue_phenotype	1.34845032
31	MP0003077_abnormal_cell_cycle	1.33786319
32	MP0008569_lethality_at_weaning	1.28325009
33	MP0000955_abnormal_spinal_cord	1.26636083
34	MP0000751_myopathy	1.25512750
35	MP0002210_abnormal_sex_determination	1.13946798
36	MP0004957_abnormal_blastocyst_morpholog	1.11804018
37	MP0009115_abnormal_fat_cell	1.10253575
38	MP0001299_abnormal_eye_distance/	1.06453833
39	MP0002822_catalepsy	1.05449750
40	MP0003111_abnormal_nucleus_morphology	1.01596708
41	MP0005257_abnormal_intraocular_pressure	0.99575468
42	MP0003115_abnormal_respiratory_system	0.97628821
43	MP0000566_synostosis	0.97389534
44	MP0001968_abnormal_touch/_nociception	0.95815083
45	MP0001849_ear_inflammation	0.94390525
46	MP0003329_amyloid_beta_deposits	0.91830649
47	MP0001958_emphysema	0.91598040
48	MP0003861_abnormal_nervous_system	0.90616653
49	MP0002282_abnormal_trachea_morphology	0.89900554
50	MP0002132_abnormal_respiratory_system	0.84222909
51	MP0001145_abnormal_male_reproductive	0.84125969
52	MP0003942_abnormal_urinary_system	0.83842556
53	MP0004858_abnormal_nervous_system	0.81653152
54	MP0001486_abnormal_startle_reflex	0.81340595
55	MP0008438_abnormal_cutaneous_collagen	0.81087530
56	MP0002060_abnormal_skin_morphology	0.80026178
57	MP0001270_distended_abdomen	0.79228446
58	MP0002085_abnormal_embryonic_tissue	0.77076540
59	MP0003635_abnormal_synaptic_transmissio	0.76940229
60	MP0002269_muscular_atrophy	0.76063505
61	MP0000747_muscle_weakness	0.76011720
62	MP0002063_abnormal_learning/memory/cond	0.73346217
63	MP0003879_abnormal_hair_cell	0.73298729
64	MP0009780_abnormal_chondrocyte_physiolo	0.73115622
65	MP0001730_embryonic_growth_arrest	0.72681273
66	MP0004811_abnormal_neuron_physiology	0.71948820
67	MP0001502_abnormal_circadian_rhythm	0.71670040
68	MP0002080_prenatal_lethality	0.70853928
69	MP0005379_endocrine/exocrine_gland_phen	0.70469167
70	MP0002089_abnormal_postnatal_growth/wei	0.68947302
71	MP0000653_abnormal_sex_gland	0.68347167
72	MP0000762_abnormal_tongue_morphology	0.68191199
73	MP0002116_abnormal_craniofacial_bone	0.66248432
74	MP0002971_abnormal_brown_adipose	0.65872221
75	MP0000350_abnormal_cell_proliferation	0.65516352
76	MP0002932_abnormal_joint_morphology	0.64547467
77	MP0002114_abnormal_axial_skeleton	0.64407541
78	MP0005275_abnormal_skin_tensile	0.64272778
79	MP0002734_abnormal_mechanical_nocicepti	0.64246446
80	MP0002108_abnormal_muscle_morphology	0.64241032
81	MP0004087_abnormal_muscle_fiber	0.63494296
82	MP0003172_abnormal_lysosome_physiology	0.62108459
83	MP0002152_abnormal_brain_morphology	0.61540729
84	MP0008770_decreased_survivor_rate	0.60342945
85	MP0000759_abnormal_skeletal_muscle	0.60158836
86	MP0002882_abnormal_neuron_morphology	0.59991237
87	MP0002067_abnormal_sensory_capabilities	0.59395659
88	MP0003634_abnormal_glial_cell	0.59232598
89	MP0000681_abnormal_thyroid_gland	0.59213121
90	MP0005248_abnormal_Harderian_gland	0.58228424
91	MP0004270_analgesia	0.57977550
92	MP0002572_abnormal_emotion/affect_behav	0.57847862
93	MP0003632_abnormal_nervous_system	0.57611768
94	MP0001485_abnormal_pinna_reflex	0.57547263
95	MP0001765_abnormal_ion_homeostasis	0.57387662
96	MP0001963_abnormal_hearing_physiology	0.56538140
97	MP0000778_abnormal_nervous_system	0.56278923
98	MP0003959_abnormal_lean_body	0.56088305
99	MP0005408_hypopigmentation	0.56025605
100	MP0002081_perinatal_lethality	0.55428825

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	4.45655534
2	Renovascular hypertension (HP:0100817)	4.07141572
3	Bell-shaped thorax (HP:0001591)	3.85131891
4	Male infertility (HP:0003251)	3.84505626
5	Asymmetric septal hypertrophy (HP:0001670)	3.66554201
6	Hyperacusis (HP:0010780)	3.54496563
7	Resting tremor (HP:0002322)	3.51716168
8	Unilateral renal agenesis (HP:0000122)	3.22324831
9	Hypoplastic ischia (HP:0003175)	3.16947305
10	Abnormality of the ischium (HP:0003174)	3.09991654
11	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	3.09467978
12	Atrophic scars (HP:0001075)	3.08800403
13	Bony spicule pigmentary retinopathy (HP:0007737)	2.90621962
14	Hyperkalemia (HP:0002153)	2.81551436
15	Atelectasis (HP:0100750)	2.81455911
16	Neonatal short-limb short stature (HP:0008921)	2.78242394
17	Protrusio acetabuli (HP:0003179)	2.75604029
18	Insomnia (HP:0100785)	2.72076649
19	Infertility (HP:0000789)	2.67419187
20	Impulsivity (HP:0100710)	2.64782940
21	Obsessive-compulsive behavior (HP:0000722)	2.62965931
22	Aplasia/Hypoplasia of the earlobes (HP:0009906)	2.58992923
23	Obstructive sleep apnea (HP:0002870)	2.57124504
24	Nasal polyposis (HP:0100582)	2.55977304
25	Truncal obesity (HP:0001956)	2.46338933
26	Enlarged epiphyses (HP:0010580)	2.44732289
27	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.44678806
28	Progressive sensorineural hearing impairment (HP:0000408)	2.42252850
29	Hand muscle atrophy (HP:0009130)	2.40040960
30	Distal upper limb amyotrophy (HP:0007149)	2.35581779
31	Upper limb amyotrophy (HP:0009129)	2.35581779
32	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	2.29369087
33	Absent epiphyses (HP:0010577)	2.29369087
34	Supernumerary ribs (HP:0005815)	2.27777045
35	Peripheral hypomyelination (HP:0007182)	2.24364162
36	Flattened epiphyses (HP:0003071)	2.22553253
37	Cone-rod dystrophy (HP:0000548)	2.22317768
38	Bladder diverticulum (HP:0000015)	2.20231586
39	Patellar dislocation (HP:0002999)	2.15194051
40	Elfin facies (HP:0004428)	2.08836943
41	Absent/shortened dynein arms (HP:0200106)	2.07068922
42	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.07068922
43	Insidious onset (HP:0003587)	2.06901616
44	Termporal pattern (HP:0011008)	2.06901616
45	Renal duplication (HP:0000075)	2.06391933
46	Urethral obstruction (HP:0000796)	2.05434566
47	Chronic hepatic failure (HP:0100626)	2.04815866
48	Progressive hearing impairment (HP:0001730)	2.03276711
49	Ulnar bowing (HP:0003031)	2.01158579
50	Epiphyseal dysplasia (HP:0002656)	2.01010541
51	Attenuation of retinal blood vessels (HP:0007843)	2.00483124
52	Abnormality of the parietal bone (HP:0002696)	2.00475991
53	Potter facies (HP:0002009)	2.00065372
54	Facial shape deformation (HP:0011334)	2.00065372
55	Fragile skin (HP:0001030)	1.99892932
56	Pseudobulbar signs (HP:0002200)	1.96617007
57	Supernumerary bones of the axial skeleton (HP:0009144)	1.94978110
58	Bowel incontinence (HP:0002607)	1.94689613
59	Vertebral arch anomaly (HP:0008438)	1.92536370
60	Postural instability (HP:0002172)	1.91209937
61	Abnormality of the nasal mucosa (HP:0000433)	1.88410011
62	Overriding aorta (HP:0002623)	1.88207908
63	Osteoarthritis (HP:0002758)	1.87675251
64	Megalocornea (HP:0000485)	1.85624657
65	Lumbar hyperlordosis (HP:0002938)	1.84080003
66	Increased nuchal translucency (HP:0010880)	1.81792104
67	Abnormality of the aortic arch (HP:0012303)	1.81337271
68	Thin ribs (HP:0000883)	1.79737437
69	Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)	1.79341286
70	Hypoparathyroidism (HP:0000829)	1.78625991
71	Exostoses (HP:0100777)	1.77762763
72	Hypoalphalipoproteinemia (HP:0003233)	1.76776590
73	Thin bony cortex (HP:0002753)	1.75729808
74	Cubitus valgus (HP:0002967)	1.74721320
75	Flat cornea (HP:0007720)	1.74647790
76	Broad face (HP:0000283)	1.74181449
77	Turricephaly (HP:0000262)	1.73798721
78	Mild short stature (HP:0003502)	1.72398023
79	Narrow face (HP:0000275)	1.72368970
80	Azoospermia (HP:0000027)	1.72323675
81	Calcaneovalgus deformity (HP:0001848)	1.72062786
82	Abnormality of macular pigmentation (HP:0008002)	1.72036951
83	Hyperextensible skin (HP:0000974)	1.71914063
84	Underdeveloped nasal alae (HP:0000430)	1.71531199
85	Abnormal large intestine physiology (HP:0012700)	1.71349269
86	Decreased motor nerve conduction velocity (HP:0003431)	1.70395895
87	Omphalocele (HP:0001539)	1.69522137
88	Papilledema (HP:0001085)	1.68955783
89	Tubulointerstitial nephritis (HP:0001970)	1.68248009
90	Polycystic kidney dysplasia (HP:0000113)	1.67786302
91	Precocious puberty (HP:0000826)	1.66918692
92	Abnormal spermatogenesis (HP:0008669)	1.66542582
93	Ectopia lentis (HP:0001083)	1.66178431
94	Premature rupture of membranes (HP:0001788)	1.66160818
95	Abnormal ventriculo-arterial connection (HP:0011563)	1.66136034
96	Transposition of the great arteries (HP:0001669)	1.66136034
97	Abnormal connection of the cardiac segments (HP:0011545)	1.66136034
98	Hypophosphatemic rickets (HP:0004912)	1.65698822
99	Hypoplasia of the thymus (HP:0000778)	1.65177704
100	Neoplasm of the heart (HP:0100544)	1.65050648

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK12	4.54258125
2	PLK4	4.41975356
3	DDR2	3.93553988
4	TESK1	3.64907618
5	PRKD3	3.56208510
6	TRIB3	3.12909728
7	SIK2	2.87778742
8	BRD4	2.86547423
9	STK38	2.75529509
10	CAMK1G	2.50388277
11	PNCK	2.28082286
12	ICK	2.22894953
13	RIPK1	2.01422060
14	MST1R	1.99612590
15	LATS2	1.77966949
16	PRPF4B	1.72084315
17	SIK1	1.70982934
18	WNK1	1.61270317
19	CAMK1D	1.57368567
20	CDK7	1.55667968
21	TYRO3	1.49263795
22	MAPK15	1.47481193
23	MTOR	1.37980596
24	PDGFRA	1.36940932
25	EEF2K	1.33884761
26	PDPK1	1.27081994
27	MAP3K9	1.24823469
28	STK38L	1.20422811
29	NTRK1	1.19614014
30	NEK2	1.17256558
31	PLK2	1.16941732
32	CDC7	1.14867843
33	KSR2	1.14091810
34	MUSK	1.12447458
35	FGFR4	1.10932676
36	SMG1	1.08848804
37	MARK2	1.03926016
38	INSRR	1.02926822
39	DYRK1B	1.00484766
40	UHMK1	0.94234668
41	CDK4	0.92812348
42	PDK1	0.90129953
43	PKN2	0.85039354
44	PRKCH	0.80562336
45	NEK6	0.76741802
46	RPS6KA2	0.76346155
47	CDK2	0.74474182
48	TNIK	0.73515172
49	MARK1	0.69105630
50	CHEK1	0.68886343
51	MAPK10	0.68883857
52	MAPK11	0.67836928
53	CDK1	0.65060904
54	WNK4	0.63341788
55	GSK3B	0.62551310
56	PAK2	0.59025593
57	MAP2K2	0.58734012
58	MAP3K13	0.58206184
59	MOS	0.53570768
60	ARAF	0.52965730
61	CDK9	0.52790061
62	CDK11A	0.52322147
63	RPS6KA1	0.51859976
64	RPS6KC1	0.50115983
65	RPS6KL1	0.50115983
66	AKT3	0.49867796
67	MAPK14	0.49822751
68	MAPK8	0.49700368
69	ALK	0.48732268
70	MAP3K8	0.48635197
71	LATS1	0.47848634
72	PRKD2	0.45475348
73	IRAK3	0.44397209
74	CDC42BPA	0.44229750
75	BRAF	0.43920498
76	RIPK4	0.43446652
77	SGK3	0.40896228
78	AURKA	0.40246389
79	CDK3	0.39823659
80	SGK1	0.38977683
81	PDGFRB	0.37995526
82	MAPK1	0.37882534
83	RPS6KA6	0.36798640
84	CSNK1E	0.35668341
85	MAP2K7	0.34663178
86	MET	0.34641440
87	NTRK2	0.33963777
88	CAMK1	0.33259244
89	SGK223	0.32927429
90	SGK494	0.32927429
91	MAP3K2	0.32846168
92	CAMKK1	0.31456278
93	RPS6KA4	0.31284027
94	RET	0.29619699
95	CDK8	0.29321747
96	MAPK9	0.29071033
97	AKT1	0.28725187
98	RPS6KA3	0.28421600
99	NEK9	0.27732688
100	ROCK1	0.26510842

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid biosynthesis_Homo sapiens_hsa00061	4.15384249
2	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	2.48733949
3	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	2.32953232
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.12059039
5	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.86759153
6	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	1.72795896
7	mRNA surveillance pathway_Homo sapiens_hsa03015	1.44238586
8	Lysine degradation_Homo sapiens_hsa00310	1.43883107
9	Olfactory transduction_Homo sapiens_hsa04740	1.41980533
10	Phenylalanine metabolism_Homo sapiens_hsa00360	1.41033909
11	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.40397657
12	Acute myeloid leukemia_Homo sapiens_hsa05221	1.38910139
13	Long-term potentiation_Homo sapiens_hsa04720	1.37264934
14	VEGF signaling pathway_Homo sapiens_hsa04370	1.34880178
15	Type II diabetes mellitus_Homo sapiens_hsa04930	1.34088958
16	RNA transport_Homo sapiens_hsa03013	1.32999601
17	Endocytosis_Homo sapiens_hsa04144	1.32312238
18	Thyroid cancer_Homo sapiens_hsa05216	1.31985611
19	Estrogen signaling pathway_Homo sapiens_hsa04915	1.29436495
20	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.29370976
21	Adherens junction_Homo sapiens_hsa04520	1.24882106
22	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.24720880
23	mTOR signaling pathway_Homo sapiens_hsa04150	1.23032166
24	Non-small cell lung cancer_Homo sapiens_hsa05223	1.21570066
25	Renal cell carcinoma_Homo sapiens_hsa05211	1.19551115
26	Chronic myeloid leukemia_Homo sapiens_hsa05220	1.19369375
27	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.18422135
28	Notch signaling pathway_Homo sapiens_hsa04330	1.16781316
29	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.14521854
30	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.11953063
31	Endometrial cancer_Homo sapiens_hsa05213	1.10159528
32	Tight junction_Homo sapiens_hsa04530	1.09268859
33	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.09105127
34	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.08910214
35	Insulin signaling pathway_Homo sapiens_hsa04910	1.08577686
36	Phospholipase D signaling pathway_Homo sapiens_hsa04072	1.07346370
37	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.06757191
38	MicroRNAs in cancer_Homo sapiens_hsa05206	1.06672457
39	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.06463099
40	ECM-receptor interaction_Homo sapiens_hsa04512	1.04970922
41	Prion diseases_Homo sapiens_hsa05020	1.04198054
42	Focal adhesion_Homo sapiens_hsa04510	1.01500854
43	Spliceosome_Homo sapiens_hsa03040	0.99726355
44	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.98290305
45	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.98202627
46	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.98115450
47	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.96830273
48	ErbB signaling pathway_Homo sapiens_hsa04012	0.93408496
49	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.91974884
50	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.90737758
51	Glioma_Homo sapiens_hsa05214	0.90253762
52	Bile secretion_Homo sapiens_hsa04976	0.90140832
53	Pancreatic cancer_Homo sapiens_hsa05212	0.90023266
54	Prolactin signaling pathway_Homo sapiens_hsa04917	0.88076694
55	Selenocompound metabolism_Homo sapiens_hsa00450	0.87107610
56	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.86888099
57	Prostate cancer_Homo sapiens_hsa05215	0.86709061
58	Protein digestion and absorption_Homo sapiens_hsa04974	0.86006659
59	Choline metabolism in cancer_Homo sapiens_hsa05231	0.83289038
60	Glutamatergic synapse_Homo sapiens_hsa04724	0.81910220
61	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.80715183
62	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.78407705
63	cAMP signaling pathway_Homo sapiens_hsa04024	0.78161672
64	Bladder cancer_Homo sapiens_hsa05219	0.78073007
65	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.78052802
66	Arginine and proline metabolism_Homo sapiens_hsa00330	0.75694694
67	Melanogenesis_Homo sapiens_hsa04916	0.74913927
68	Fatty acid metabolism_Homo sapiens_hsa01212	0.74796999
69	PPAR signaling pathway_Homo sapiens_hsa03320	0.74738007
70	Cholinergic synapse_Homo sapiens_hsa04725	0.72852970
71	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.72126771
72	Oocyte meiosis_Homo sapiens_hsa04114	0.71829225
73	Proteoglycans in cancer_Homo sapiens_hsa05205	0.71616571
74	Taste transduction_Homo sapiens_hsa04742	0.70711737
75	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.68623277
76	Circadian entrainment_Homo sapiens_hsa04713	0.68364094
77	AMPK signaling pathway_Homo sapiens_hsa04152	0.66461824
78	Insulin resistance_Homo sapiens_hsa04931	0.65309412
79	One carbon pool by folate_Homo sapiens_hsa00670	0.65153382
80	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.63716437
81	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.63572926
82	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.63353901
83	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.62115597
84	Hippo signaling pathway_Homo sapiens_hsa04390	0.60787728
85	MAPK signaling pathway_Homo sapiens_hsa04010	0.58444157
86	Colorectal cancer_Homo sapiens_hsa05210	0.58121795
87	Nicotine addiction_Homo sapiens_hsa05033	0.57670762
88	Gastric acid secretion_Homo sapiens_hsa04971	0.57294785
89	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.56287853
90	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.55818491
91	Basal cell carcinoma_Homo sapiens_hsa05217	0.55167516
92	Morphine addiction_Homo sapiens_hsa05032	0.54937353
93	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.53804825
94	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.52802901
95	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.52473609
96	GnRH signaling pathway_Homo sapiens_hsa04912	0.52310307
97	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.51833986
98	Glucagon signaling pathway_Homo sapiens_hsa04922	0.51205366
99	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.50839373
100	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.49545951

C22ORF46

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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