ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	9.71075264
2	chromosome condensation (GO:0030261)	8.81550661
3	sperm capacitation (GO:0048240)	8.66798794
4	DNA packaging (GO:0006323)	8.54671400
5	spermatid nucleus differentiation (GO:0007289)	8.51914944
6	plasma membrane fusion (GO:0045026)	8.50816218
7	single strand break repair (GO:0000012)	8.38820869
8	microtubule depolymerization (GO:0007019)	8.06058223
9	spermatid development (GO:0007286)	8.00927314
10	sperm-egg recognition (GO:0035036)	7.17624366
11	rRNA methylation (GO:0031167)	7.16884336
12	binding of sperm to zona pellucida (GO:0007339)	6.70283579
13	multicellular organism reproduction (GO:0032504)	6.66451600
14	microtubule polymerization or depolymerization (GO:0031109)	6.56307673
15	negative regulation of inclusion body assembly (GO:0090084)	6.38986127
16	protein polyglutamylation (GO:0018095)	6.35923595
17	sexual reproduction (GO:0019953)	6.35316624
18	rRNA modification (GO:0000154)	6.35050723
19	reproduction (GO:0000003)	6.35017640
20	calcium ion-dependent exocytosis (GO:0017156)	6.23241843
21	axonemal dynein complex assembly (GO:0070286)	6.20347825
22	phosphatidylethanolamine biosynthetic process (GO:0006646)	6.04125216
23	spermatogenesis (GO:0007283)	5.96528311
24	male gamete generation (GO:0048232)	5.94941141
25	cell-cell recognition (GO:0009988)	5.83123916
26	protein targeting to Golgi (GO:0000042)	5.67015322
27	cellular ketone body metabolic process (GO:0046950)	5.61919918
28	establishment of protein localization to Golgi (GO:0072600)	5.54918802
29	phosphatidylethanolamine metabolic process (GO:0046337)	5.53628570
30	microtubule severing (GO:0051013)	5.51364203
31	gamete generation (GO:0007276)	5.45535677
32	retrograde transport, vesicle recycling within Golgi (GO:0000301)	5.28741105
33	regulation of cilium movement (GO:0003352)	5.16084648
34	ketone body metabolic process (GO:1902224)	4.99908132
35	epithelial cilium movement (GO:0003351)	4.94153401
36	motile cilium assembly (GO:0044458)	4.80506842
37	centriole replication (GO:0007099)	4.80308063
38	single fertilization (GO:0007338)	4.70911129
39	multicellular organismal movement (GO:0050879)	4.62561430
40	musculoskeletal movement (GO:0050881)	4.62561430
41	RNA destabilization (GO:0050779)	4.60374704
42	chromatin silencing (GO:0006342)	4.58409608
43	germ cell development (GO:0007281)	4.55417536
44	cilium or flagellum-dependent cell motility (GO:0001539)	4.55236956
45	regulation of inclusion body assembly (GO:0090083)	4.46442029
46	centriole assembly (GO:0098534)	4.35967049
47	multicellular organismal reproductive process (GO:0048609)	4.31552608
48	positive regulation of Rab GTPase activity (GO:0032851)	4.31420837
49	regulation of Rab GTPase activity (GO:0032313)	4.31420837
50	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	4.26358139
51	cellular process involved in reproduction in multicellular organism (GO:0022412)	4.26129958
52	cilium movement (GO:0003341)	4.17204111
53	protein localization to Golgi apparatus (GO:0034067)	4.11199983
54	regulation of centriole replication (GO:0046599)	4.03858021
55	fertilization (GO:0009566)	3.97813390
56	regulation of transcription involved in cell fate commitment (GO:0060850)	3.94314696
57	nucleus organization (GO:0006997)	3.86848324
58	negative regulation of Rho protein signal transduction (GO:0035024)	3.85335485
59	coenzyme catabolic process (GO:0009109)	3.80273465
60	urinary tract smooth muscle contraction (GO:0014848)	3.77735681
61	cell wall macromolecule catabolic process (GO:0016998)	3.62704867
62	male meiosis I (GO:0007141)	3.58099480
63	myoblast fusion (GO:0007520)	3.49626023
64	seminiferous tubule development (GO:0072520)	3.47248638
65	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.46180098
66	glycerol ether metabolic process (GO:0006662)	3.44951443
67	cell wall macromolecule metabolic process (GO:0044036)	3.42341130
68	regulation of microtubule-based movement (GO:0060632)	3.25312169
69	ether metabolic process (GO:0018904)	3.17642889
70	glomerular visceral epithelial cell development (GO:0072015)	3.15418621
71	syncytium formation by plasma membrane fusion (GO:0000768)	3.12729890
72	organic cation transport (GO:0015695)	3.10266070
73	negative regulation of gene expression, epigenetic (GO:0045814)	3.05824860
74	glomerular epithelial cell development (GO:0072310)	3.04682243
75	cerebral cortex neuron differentiation (GO:0021895)	3.02680407
76	cranial nerve morphogenesis (GO:0021602)	3.01223154
77	histone H3-K9 demethylation (GO:0033169)	2.98400797
78	peptidyl-threonine dephosphorylation (GO:0035970)	2.97220111
79	cell recognition (GO:0008037)	2.92615734
80	multicellular organismal development (GO:0007275)	2.92480403
81	male meiosis (GO:0007140)	2.91158566
82	protein depolymerization (GO:0051261)	2.88967549
83	spinal cord motor neuron differentiation (GO:0021522)	2.88104528
84	NAD biosynthetic process (GO:0009435)	2.87283178
85	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.84392302
86	nucleosome disassembly (GO:0006337)	2.83272206
87	protein-DNA complex disassembly (GO:0032986)	2.83272206
88	urogenital system development (GO:0001655)	2.81681765
89	response to acidic pH (GO:0010447)	2.81591222
90	polyamine biosynthetic process (GO:0006596)	2.80986260
91	axoneme assembly (GO:0035082)	2.77985976
92	homeostasis of number of cells within a tissue (GO:0048873)	2.74610612
93	mesenchymal cell differentiation involved in renal system development (GO:2001012)	2.74516653
94	mesenchymal cell differentiation involved in kidney development (GO:0072161)	2.74516653
95	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.73186727
96	meiosis I (GO:0007127)	2.72658307
97	piRNA metabolic process (GO:0034587)	2.72147795
98	acrosome reaction (GO:0007340)	11.5087948
99	sperm motility (GO:0030317)	11.4664265
100	fusion of sperm to egg plasma membrane (GO:0007342)	10.1711167

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	4.71799107
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.80656268
3	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	3.41732594
4	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.39098366
5	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	2.39098366
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.28866184
7	FUS_26573619_Chip-Seq_HEK293_Human	2.25898898
8	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.21826880
9	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.15849514
10	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.10226851
11	CBP_20019798_ChIP-Seq_JUKART_Human	2.10226851
12	ERA_21632823_ChIP-Seq_H3396_Human	2.09843596
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.07731735
14	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.98984388
15	CTCF_27219007_Chip-Seq_Bcells_Human	1.84844020
16	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.82627725
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.81273695
18	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.78098951
19	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.76703496
20	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.75356954
21	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.73710755
22	NANOG_20526341_ChIP-Seq_ESCs_Human	1.70781319
23	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.69450146
24	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.67613926
25	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.67544805
26	ER_23166858_ChIP-Seq_MCF-7_Human	1.67355329
27	ZNF274_21170338_ChIP-Seq_K562_Hela	1.66620192
28	DROSHA_22980978_ChIP-Seq_HELA_Human	1.65539884
29	MYC_19829295_ChIP-Seq_ESCs_Human	1.64125221
30	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.61861794
31	E2F1_20622854_ChIP-Seq_HELA_Human	1.61139919
32	TAF2_19829295_ChIP-Seq_ESCs_Human	1.60500874
33	* RAC3_21632823_ChIP-Seq_H3396_Human	1.58304893
34	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.57018675
35	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.55862088
36	AR_25329375_ChIP-Seq_VCAP_Human	1.54807682
37	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.53975111
38	TAF15_26573619_Chip-Seq_HEK293_Human	1.51108274
39	OCT4_20526341_ChIP-Seq_ESCs_Human	1.50470227
40	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.49248430
41	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.46356449
42	PHF8_20622854_ChIP-Seq_HELA_Human	1.45972942
43	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.45746172
44	TP53_18474530_ChIP-ChIP_U2OS_Human	1.45616632
45	P68_20966046_ChIP-Seq_HELA_Human	1.44530085
46	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.43744801
47	* P300_19829295_ChIP-Seq_ESCs_Human	1.42812753
48	BCL6_27268052_Chip-Seq_Bcells_Human	1.42753567
49	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.38662097
50	ERG_20517297_ChIP-Seq_VCAP_Human	1.38384664
51	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.37982099
52	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.37272376
53	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.35921882
54	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.35405310
55	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.35219020
56	VDR_22108803_ChIP-Seq_LS180_Human	1.34522297
57	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.32410291
58	ETV1_20927104_ChIP-Seq_GIST48_Human	1.32231778
59	BCOR_27268052_Chip-Seq_Bcells_Human	1.32127369
60	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.31860449
61	RBPJ_21746931_ChIP-Seq_IB4_Human	1.31730501
62	CTCF_20526341_ChIP-Seq_ESCs_Human	1.30858536
63	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.30076463
64	AR_21572438_ChIP-Seq_LNCaP_Human	1.29982774
65	SOX2_22085726_ChIP-Seq_NPCs_Mouse	1.29320029
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.29040115
67	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.27720165
68	SMC4_20622854_ChIP-Seq_HELA_Human	1.27530795
69	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.26738741
70	* TP63_22573176_ChIP-Seq_HFKS_Human	1.26038162
71	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.25790679
72	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.25495095
73	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.23846289
74	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.23593332
75	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.23276810
76	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.22750678
77	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.22685016
78	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.19823878
79	P300_27268052_Chip-Seq_Bcells_Human	1.18631586
80	P53_21459846_ChIP-Seq_SAOS-2_Human	1.15887906
81	NANOG_19829295_ChIP-Seq_ESCs_Human	1.15195393
82	SOX2_19829295_ChIP-Seq_ESCs_Human	1.15195393
83	NFYB_21822215_ChIP-Seq_K562_Human	1.14471066
84	TBL1_22424771_ChIP-Seq_293T_Human	1.13602855
85	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.12008959
86	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.11557172
87	PHF8_20622853_ChIP-Seq_HELA_Human	1.10630187
88	RUNX2_22187159_ChIP-Seq_PCA_Human	1.10352284
89	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.08257937
90	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.07915212
91	CEBPB_22108803_ChIP-Seq_LS180_Human	1.06355205
92	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05344930
93	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.05021146
94	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.04721368
95	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.04432761
96	RUNX1_26923725_Chip-Seq_HPCs_Mouse	1.04211139
97	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.03750687
98	SA1_27219007_Chip-Seq_Bcells_Human	1.01818775
99	NCOR_22424771_ChIP-Seq_293T_Human	1.00291670
100	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.99018583

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005377_hearing/vestibular/ear_phenot	5.19201775
2	MP0003878_abnormal_ear_physiology	5.19201775
3	MP0003698_abnormal_male_reproductive	4.07835381
4	MP0005670_abnormal_white_adipose	4.03167420
5	MP0001929_abnormal_gametogenesis	3.54430022
6	MP0001348_abnormal_lacrimal_gland	2.78961599
7	MP0003011_delayed_dark_adaptation	2.71051911
8	MP0005423_abnormal_somatic_nervous	2.29868665
9	MP0002161_abnormal_fertility/fecundity	2.21527368
10	MP0002132_abnormal_respiratory_system	2.13597883
11	MP0000678_abnormal_parathyroid_gland	2.00661714
12	MP0005410_abnormal_fertilization	10.7228879
13	MP0003718_maternal_effect	1.97302605
14	MP0002249_abnormal_larynx_morphology	1.89684505
15	MP0002210_abnormal_sex_determination	1.86933509
16	MP0002282_abnormal_trachea_morphology	1.83634409
17	MP0009053_abnormal_anal_canal	1.79525575
18	MP0003646_muscle_fatigue	1.78971659
19	MP0001486_abnormal_startle_reflex	1.71540334
20	MP0002234_abnormal_pharynx_morphology	1.67987776
21	MP0002822_catalepsy	1.63508460
22	MP0010030_abnormal_orbit_morphology	1.58280910
23	MP0005248_abnormal_Harderian_gland	1.55218711
24	MP0001485_abnormal_pinna_reflex	1.51332453
25	MP0002735_abnormal_chemical_nociception	1.48363064
26	MP0001968_abnormal_touch/_nociception	1.44323310
27	MP0001145_abnormal_male_reproductive	1.44271325
28	MP0000653_abnormal_sex_gland	1.37136676
29	MP0004742_abnormal_vestibular_system	1.31502908
30	MP0000566_synostosis	1.29303080
31	MP0000026_abnormal_inner_ear	1.23035715
32	MP0000534_abnormal_ureter_morphology	1.18627872
33	MP0003136_yellow_coat_color	1.14224620
34	MP0002138_abnormal_hepatobiliary_system	1.11166783
35	MP0001963_abnormal_hearing_physiology	1.08066461
36	MP0000049_abnormal_middle_ear	1.07194540
37	MP0004510_myositis	1.06029712
38	MP0005551_abnormal_eye_electrophysiolog	1.03563569
39	MP0008877_abnormal_DNA_methylation	0.98496965
40	MP0005379_endocrine/exocrine_gland_phen	0.98333693
41	MP0003880_abnormal_central_pattern	0.95013183
42	MP0002733_abnormal_thermal_nociception	0.93337315
43	MP0003879_abnormal_hair_cell	0.93105197
44	MP0001765_abnormal_ion_homeostasis	0.92525152
45	MP0002734_abnormal_mechanical_nocicepti	0.92055416
46	MP0000955_abnormal_spinal_cord	0.91342909
47	MP0001299_abnormal_eye_distance/	0.91012477
48	MP0005310_abnormal_salivary_gland	0.89846103
49	MP0005084_abnormal_gallbladder_morpholo	0.89110026
50	MP0004859_abnormal_synaptic_plasticity	0.87206425
51	MP0003137_abnormal_impulse_conducting	0.87030393
52	MP0002067_abnormal_sensory_capabilities	0.86431540
53	MP0005253_abnormal_eye_physiology	0.86359839
54	MP0004270_analgesia	0.84639218
55	MP0008995_early_reproductive_senescence	0.80269262
56	MP0004085_abnormal_heartbeat	0.77277564
57	MP0001984_abnormal_olfaction	0.75793651
58	MP0002127_abnormal_cardiovascular_syste	0.74848480
59	MP0003119_abnormal_digestive_system	0.74799917
60	MP0005395_other_phenotype	0.74163738
61	MP0003283_abnormal_digestive_organ	0.74007794
62	MP0008569_lethality_at_weaning	0.73890087
63	MP0001970_abnormal_pain_threshold	0.73265428
64	MP0000749_muscle_degeneration	0.72533743
65	MP0001270_distended_abdomen	0.71362081
66	MP0002557_abnormal_social/conspecific_i	0.69776191
67	MP0002572_abnormal_emotion/affect_behav	0.69585913
68	MP0008961_abnormal_basal_metabolism	0.69342836
69	MP0001986_abnormal_taste_sensitivity	0.67542295
70	MP0006276_abnormal_autonomic_nervous	0.65210253
71	MP0000516_abnormal_urinary_system	0.64673850
72	MP0005367_renal/urinary_system_phenotyp	0.64673850
73	MP0002272_abnormal_nervous_system	0.64047192
74	MP0006292_abnormal_olfactory_placode	0.59952764
75	MP0004484_altered_response_of	0.58891550
76	MP0002229_neurodegeneration	0.57183399
77	MP0008789_abnormal_olfactory_epithelium	0.55950888
78	MP0005391_vision/eye_phenotype	0.54787828
79	MP0009697_abnormal_copulation	0.54467260
80	MP0009115_abnormal_fat_cell	0.53854197
81	MP0009745_abnormal_behavioral_response	0.53833581
82	MP0005408_hypopigmentation	0.53582175
83	MP0003635_abnormal_synaptic_transmissio	0.51074477
84	MP0005666_abnormal_adipose_tissue	0.50901485
85	MP0003942_abnormal_urinary_system	0.50046240
86	MP0004036_abnormal_muscle_relaxation	0.49051749
87	MP0001501_abnormal_sleep_pattern	0.48941163
88	MP0005394_taste/olfaction_phenotype	0.48912687
89	MP0005499_abnormal_olfactory_system	0.48912687
90	MP0001905_abnormal_dopamine_level	0.48713792
91	MP0001666_abnormal_nutrient_absorption	0.48648264
92	MP0009046_muscle_twitch	0.47118811
93	MP0001879_abnormal_lymphatic_vessel	0.46651436
94	MP0000681_abnormal_thyroid_gland	0.46602403
95	MP0002752_abnormal_somatic_nervous	0.46499298
96	MP0000778_abnormal_nervous_system	0.46283302
97	MP0002928_abnormal_bile_duct	0.46216134
98	MP0002108_abnormal_muscle_morphology	0.45850611
99	MP0002736_abnormal_nociception_after	0.45765049
100	MP0001346_abnormal_lacrimal_gland	0.45324831

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	6.81852019
2	Attenuation of retinal blood vessels (HP:0007843)	5.41185015
3	Bony spicule pigmentary retinopathy (HP:0007737)	5.30705693
4	Absent/shortened dynein arms (HP:0200106)	5.24361523
5	Dynein arm defect of respiratory motile cilia (HP:0012255)	5.24361523
6	Asymmetric septal hypertrophy (HP:0001670)	4.87518649
7	Abnormal ciliary motility (HP:0012262)	4.50370243
8	Abnormal respiratory motile cilium physiology (HP:0012261)	4.19625964
9	Tubulointerstitial nephritis (HP:0001970)	4.16736582
10	Hypoplastic ischia (HP:0003175)	4.11680198
11	Type 2 muscle fiber atrophy (HP:0003554)	4.05397938
12	Abnormal respiratory epithelium morphology (HP:0012253)	4.05062578
13	Abnormal respiratory motile cilium morphology (HP:0005938)	4.05062578
14	Chronic hepatic failure (HP:0100626)	3.94814997
15	Muscle fiber atrophy (HP:0100295)	3.92720906
16	Bell-shaped thorax (HP:0001591)	3.83578977
17	Popliteal pterygium (HP:0009756)	3.66388566
18	Abnormal rod and cone electroretinograms (HP:0008323)	3.66339613
19	Abnormality of the ischium (HP:0003174)	3.60205169
20	Infertility (HP:0000789)	3.57710795
21	Hyperkalemia (HP:0002153)	3.52692636
22	Nasal polyposis (HP:0100582)	3.46228263
23	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	3.44987029
24	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.44921906
25	Facial shape deformation (HP:0011334)	3.34658082
26	Potter facies (HP:0002009)	3.34658082
27	Male infertility (HP:0003251)	3.33581783
28	Enlarged epiphyses (HP:0010580)	3.27978174
29	Abnormality of macular pigmentation (HP:0008002)	3.25806062
30	Resting tremor (HP:0002322)	3.22992906
31	Fatigable weakness (HP:0003473)	3.21077535
32	Abnormality of the neuromuscular junction (HP:0003398)	3.21077535
33	Azoospermia (HP:0000027)	3.14737699
34	Fetal akinesia sequence (HP:0001989)	2.99502137
35	Amniotic constriction ring (HP:0009775)	2.98596583
36	Abnormality of placental membranes (HP:0011409)	2.98596583
37	Abnormal spermatogenesis (HP:0008669)	2.97458674
38	Generalized aminoaciduria (HP:0002909)	2.96787236
39	Renal dysplasia (HP:0000110)	2.89095594
40	Renal Fanconi syndrome (HP:0001994)	2.78295218
41	Cone-rod dystrophy (HP:0000548)	2.77887622
42	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	2.77480832
43	Aplasia/Hypoplasia of the earlobes (HP:0009906)	2.73856826
44	Abnormality of the nasal mucosa (HP:0000433)	2.68523288
45	Nephronophthisis (HP:0000090)	2.67764599
46	Impulsivity (HP:0100710)	2.54376568
47	Stage 5 chronic kidney disease (HP:0003774)	2.52173214
48	Unilateral renal agenesis (HP:0000122)	2.40546689
49	Rhinitis (HP:0012384)	2.38607246
50	Abnormal urine output (HP:0012590)	2.36806306
51	Hypoalphalipoproteinemia (HP:0003233)	2.35494833
52	Abnormality of the pubic bones (HP:0003172)	2.31484211
53	Hypoplasia of the thymus (HP:0000778)	2.29747925
54	Malignant hyperthermia (HP:0002047)	2.29690264
55	Abnormality of the renal medulla (HP:0100957)	2.29414731
56	Aplasia of the musculature (HP:0100854)	2.29248974
57	Weak cry (HP:0001612)	2.25563653
58	Abnormality of the costochondral junction (HP:0000919)	2.24936806
59	Anterior segment dysgenesis (HP:0007700)	2.23832217
60	Hypoplastic heart (HP:0001961)	2.20792571
61	Abnormality of potassium homeostasis (HP:0011042)	2.19688404
62	Progressive sensorineural hearing impairment (HP:0000408)	2.15561541
63	Decreased central vision (HP:0007663)	2.13183305
64	Abnormality of the aortic arch (HP:0012303)	2.09285840
65	Progressive cerebellar ataxia (HP:0002073)	2.07384111
66	Abnormality of dental color (HP:0011073)	2.06380942
67	Abnormal drinking behavior (HP:0030082)	2.05358449
68	Polydipsia (HP:0001959)	2.05358449
69	Glycosuria (HP:0003076)	2.05061976
70	Abnormality of urine glucose concentration (HP:0011016)	2.05061976
71	Postural instability (HP:0002172)	2.04503555
72	Absent epiphyses (HP:0010577)	2.03462988
73	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	2.03462988
74	Truncal obesity (HP:0001956)	2.02596642
75	Amelogenesis imperfecta (HP:0000705)	2.02476111
76	Abnormality of renal excretion (HP:0011036)	2.00483105
77	Tubulointerstitial abnormality (HP:0001969)	2.00322633
78	Ventricular tachycardia (HP:0004756)	1.99663310
79	Double outlet right ventricle (HP:0001719)	1.98899338
80	Congenital malformation of the right heart (HP:0011723)	1.98899338
81	Abnormality of renal resorption (HP:0011038)	1.97538102
82	Optic nerve hypoplasia (HP:0000609)	1.96165239
83	Polyuria (HP:0000103)	1.93873695
84	Osteomalacia (HP:0002749)	1.93571942
85	Myokymia (HP:0002411)	1.88000941
86	Abnormality of the parathyroid morphology (HP:0011766)	1.87994648
87	Pendular nystagmus (HP:0012043)	1.87960666
88	Abnormality of the hepatic vasculature (HP:0006707)	1.86259262
89	Horizontal nystagmus (HP:0000666)	1.85951827
90	Hypoalbuminemia (HP:0003073)	1.82883345
91	Abnormal albumin level (HP:0012116)	1.82883345
92	Flat capital femoral epiphysis (HP:0003370)	1.82557962
93	Renovascular hypertension (HP:0100817)	1.80877779
94	Respiratory distress (HP:0002098)	1.80320365
95	Portal hypertension (HP:0001409)	1.80047537
96	Scotoma (HP:0000575)	1.78371237
97	Abnormality of the epiphysis of the femoral head (HP:0010574)	1.78133700
98	Hypophosphatemic rickets (HP:0004912)	1.76787530
99	Thin ribs (HP:0000883)	1.75906845
100	Widely patent fontanelles and sutures (HP:0004492)	1.75008763

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	7.75783016
2	TESK1	5.01331805
3	DDR2	4.45989806
4	INSRR	3.86721738
5	MAP4K2	3.65407850
6	PNCK	3.00300003
7	MAPK15	2.97984386
8	PLK2	2.96948681
9	STK38	2.82986346
10	STK38L	2.59429101
11	BRD4	2.57348935
12	MAP3K9	2.10696613
13	PIK3CG	2.08121556
14	PRKD3	1.93329393
15	CAMK1G	1.85670694
16	WNK1	1.47312636
17	FRK	1.45852406
18	DYRK1B	1.39467679
19	MUSK	1.38200860
20	MST1R	1.35082359
21	PDPK1	1.31855122
22	PDK1	1.24091002
23	BMPR1B	1.23077842
24	MARK1	1.15974798
25	NTRK3	1.13709198
26	NEK6	1.06256628
27	CDK7	0.99060711
28	KSR2	0.91155914
29	WNK4	0.90993498
30	PTK2B	0.84425997
31	UHMK1	0.82721635
32	SIK2	0.80119162
33	PRKG2	0.79454624
34	PRKG1	0.75200867
35	PASK	0.74799301
36	GRK7	0.73045551
37	LATS2	0.69203940
38	AKT3	0.66882498
39	TLK1	0.65300588
40	OBSCN	0.64989770
41	CAMK1	0.63305949
42	STK16	0.60820599
43	CDK19	0.59791558
44	ACVR1B	0.57957660
45	TNIK	0.56537246
46	WNK3	0.55449689
47	CDK3	0.54872442
48	DYRK2	0.54811785
49	BRAF	0.53761150
50	CDK4	0.52752081
51	FGFR2	0.52684007
52	STK39	0.52242173
53	RPS6KA1	0.50830778
54	PRKAA2	0.50395009
55	ZAK	0.49928278
56	ARAF	0.48894948
57	VRK2	0.48747100
58	PRKCG	0.47993063
59	SGK494	0.47447211
60	SGK223	0.47447211
61	MAP3K11	0.45998660
62	TYRO3	0.43717146
63	RPS6KA2	0.43644749
64	NME1	0.42828712
65	GSK3B	0.40590946
66	CDK2	0.40425063
67	OXSR1	0.39527253
68	RPS6KA6	0.39226671
69	MAP3K4	0.36894272
70	CDK1	0.36669308
71	SGK1	0.36196208
72	MAP2K2	0.34940499
73	CDK8	0.34469423
74	ROCK1	0.34193955
75	ADRBK2	0.34002426
76	TGFBR1	0.32279217
77	RPS6KL1	0.30747611
78	RPS6KC1	0.30747611
79	MAPK1	0.28939822
80	TIE1	0.28863997
81	PKN1	0.26687229
82	MAPK8	0.26566188
83	PINK1	0.24880031
84	MAP3K13	0.24328831
85	PRKCZ	0.24036438
86	MAP3K8	0.23552748
87	CCNB1	0.23150056
88	PRKCB	0.22124660
89	NUAK1	0.22001443
90	PRKACA	0.21909521
91	CDC7	0.21116458
92	CHEK1	0.20893237
93	CAMK1D	0.20686511
94	MOS	0.20355223
95	CDK12	0.19597372
96	VRK1	0.19561998
97	EPHA3	0.19429707
98	CAMK2A	0.19212575
99	MAPK14	0.19054323
100	CDK11A	0.18745642

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	7.52279184
2	Fatty acid biosynthesis_Homo sapiens_hsa00061	4.82201561
3	Olfactory transduction_Homo sapiens_hsa04740	3.63289916
4	Butanoate metabolism_Homo sapiens_hsa00650	2.99263034
5	Cardiac muscle contraction_Homo sapiens_hsa04260	2.43589823
6	Taste transduction_Homo sapiens_hsa04742	2.15486834
7	Phototransduction_Homo sapiens_hsa04744	2.09572842
8	Nicotine addiction_Homo sapiens_hsa05033	1.87229965
9	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.79140706
10	Huntingtons disease_Homo sapiens_hsa05016	1.65852124
11	Phenylalanine metabolism_Homo sapiens_hsa00360	1.64879493
12	Fatty acid degradation_Homo sapiens_hsa00071	1.61940844
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.60085673
14	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.56138265
15	RNA transport_Homo sapiens_hsa03013	1.48877780
16	Oxidative phosphorylation_Homo sapiens_hsa00190	1.40747360
17	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.38815037
18	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.34878956
19	Fat digestion and absorption_Homo sapiens_hsa04975	1.33197068
20	Type I diabetes mellitus_Homo sapiens_hsa04940	1.26232838
21	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.25318995
22	Arginine and proline metabolism_Homo sapiens_hsa00330	1.24560761
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.23766541
24	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.21292713
25	Allograft rejection_Homo sapiens_hsa05330	1.19433569
26	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.18598982
27	Ribosome_Homo sapiens_hsa03010	1.17624395
28	Calcium signaling pathway_Homo sapiens_hsa04020	1.15311185
29	Graft-versus-host disease_Homo sapiens_hsa05332	1.14467385
30	Antigen processing and presentation_Homo sapiens_hsa04612	1.10716611
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.10525387
32	Parkinsons disease_Homo sapiens_hsa05012	1.05725835
33	Type II diabetes mellitus_Homo sapiens_hsa04930	1.05323586
34	Protein digestion and absorption_Homo sapiens_hsa04974	0.92705644
35	ABC transporters_Homo sapiens_hsa02010	0.92010596
36	Purine metabolism_Homo sapiens_hsa00230	0.90733836
37	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.90464674
38	Morphine addiction_Homo sapiens_hsa05032	0.90258874
39	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.90073623
40	Arginine biosynthesis_Homo sapiens_hsa00220	0.89593384
41	Circadian entrainment_Homo sapiens_hsa04713	0.89490113
42	Alzheimers disease_Homo sapiens_hsa05010	0.87836280
43	Tyrosine metabolism_Homo sapiens_hsa00350	0.86674692
44	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.85327062
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.84167677
46	Salivary secretion_Homo sapiens_hsa04970	0.82582987
47	cAMP signaling pathway_Homo sapiens_hsa04024	0.80927153
48	Glutamatergic synapse_Homo sapiens_hsa04724	0.80154392
49	RNA polymerase_Homo sapiens_hsa03020	0.79594875
50	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.75033132
51	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.74562798
52	Sulfur relay system_Homo sapiens_hsa04122	0.73741566
53	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.73050606
54	Glycerolipid metabolism_Homo sapiens_hsa00561	0.72706526
55	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.72402401
56	Endocytosis_Homo sapiens_hsa04144	0.68797641
57	Viral myocarditis_Homo sapiens_hsa05416	0.68174740
58	Serotonergic synapse_Homo sapiens_hsa04726	0.67707941
59	Retinol metabolism_Homo sapiens_hsa00830	0.66710968
60	Tryptophan metabolism_Homo sapiens_hsa00380	0.65542594
61	PPAR signaling pathway_Homo sapiens_hsa03320	0.63468313
62	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.62015531
63	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61683055
64	Nitrogen metabolism_Homo sapiens_hsa00910	0.61322710
65	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.60955525
66	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.58773899
67	Oocyte meiosis_Homo sapiens_hsa04114	0.58603713
68	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.57882094
69	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.57369489
70	Linoleic acid metabolism_Homo sapiens_hsa00591	0.56703362
71	Selenocompound metabolism_Homo sapiens_hsa00450	0.56093526
72	beta-Alanine metabolism_Homo sapiens_hsa00410	0.54841340
73	Cocaine addiction_Homo sapiens_hsa05030	0.54205106
74	Basal cell carcinoma_Homo sapiens_hsa05217	0.51731530
75	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.50863516
76	Cholinergic synapse_Homo sapiens_hsa04725	0.49930904
77	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.49564688
78	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.47968461
79	Insulin secretion_Homo sapiens_hsa04911	0.47484846
80	Basal transcription factors_Homo sapiens_hsa03022	0.46918365
81	Metabolic pathways_Homo sapiens_hsa01100	0.45371897
82	Renin secretion_Homo sapiens_hsa04924	0.41899136
83	Fanconi anemia pathway_Homo sapiens_hsa03460	0.41345403
84	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.41231160
85	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.40744033
86	Bile secretion_Homo sapiens_hsa04976	0.40638041
87	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.40560102
88	RNA degradation_Homo sapiens_hsa03018	0.40306523
89	GABAergic synapse_Homo sapiens_hsa04727	0.39806822
90	Histidine metabolism_Homo sapiens_hsa00340	0.37135998
91	Gastric acid secretion_Homo sapiens_hsa04971	0.34675207
92	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.33422292
93	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.32738803
94	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.32436917
95	Estrogen signaling pathway_Homo sapiens_hsa04915	0.30898080
96	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.30266205
97	Renin-angiotensin system_Homo sapiens_hsa04614	0.29986291
98	Propanoate metabolism_Homo sapiens_hsa00640	0.29124725
99	Homologous recombination_Homo sapiens_hsa03440	0.27756138
100	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.26297527

C22ORF31

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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