ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosomal small subunit biogenesis (GO:0042274)	7.35067588
2	viral transcription (GO:0019083)	6.76422207
3	translational termination (GO:0006415)	6.48007518
4	sperm motility (GO:0030317)	6.35300051
5	maturation of SSU-rRNA (GO:0030490)	6.04877510
6	acrosome reaction (GO:0007340)	5.79207018
7	ribosomal small subunit assembly (GO:0000028)	5.39662742
8	translational elongation (GO:0006414)	5.35330652
9	spermatid development (GO:0007286)	5.30448904
10	axonemal dynein complex assembly (GO:0070286)	5.23622035
11	cellular protein complex disassembly (GO:0043624)	5.11130543
12	protein polyglutamylation (GO:0018095)	5.03124107
13	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	5.02854380
14	cotranslational protein targeting to membrane (GO:0006613)	4.94590652
15	protein targeting to ER (GO:0045047)	4.91831649
16	viral life cycle (GO:0019058)	4.80571726
17	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.69801815
18	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	4.67453741
19	protein localization to endoplasmic reticulum (GO:0070972)	4.57927963
20	protein complex disassembly (GO:0043241)	4.56569833
21	chaperone-mediated protein transport (GO:0072321)	4.52664422
22	single strand break repair (GO:0000012)	4.48689352
23	motile cilium assembly (GO:0044458)	4.42925918
24	DNA methylation involved in gamete generation (GO:0043046)	4.41986729
25	macromolecular complex disassembly (GO:0032984)	4.39799535
26	regulation of cilium movement (GO:0003352)	4.20668644
27	sperm capacitation (GO:0048240)	4.06282336
28	microtubule severing (GO:0051013)	4.04180183
29	ATP synthesis coupled proton transport (GO:0015986)	4.00643053
30	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.00643053
31	epithelial cilium movement (GO:0003351)	3.93265987
32	translational initiation (GO:0006413)	3.91121881
33	multicellular organism reproduction (GO:0032504)	3.87491061
34	fusion of sperm to egg plasma membrane (GO:0007342)	3.86553568
35	calcium ion-dependent exocytosis (GO:0017156)	3.81481750
36	piRNA metabolic process (GO:0034587)	3.68416303
37	response to pheromone (GO:0019236)	3.62262338
38	ribosomal large subunit biogenesis (GO:0042273)	3.56488127
39	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.55060398
40	regulation of microtubule-based movement (GO:0060632)	3.53469504
41	behavioral response to nicotine (GO:0035095)	3.50065014
42	cilium movement (GO:0003341)	3.49459478
43	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.41462103
44	sperm-egg recognition (GO:0035036)	3.39267004
45	DNA packaging (GO:0006323)	3.38219375
46	protein targeting to membrane (GO:0006612)	3.34388708
47	centriole replication (GO:0007099)	3.23952002
48	chromosome condensation (GO:0030261)	3.20305940
49	protein complex biogenesis (GO:0070271)	3.17825725
50	rRNA modification (GO:0000154)	3.17078290
51	ribonucleoprotein complex biogenesis (GO:0022613)	3.10631465
52	pattern specification involved in kidney development (GO:0061004)	3.10547157
53	nuclear-transcribed mRNA catabolic process (GO:0000956)	3.10057034
54	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.09485204
55	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.09485204
56	NADH dehydrogenase complex assembly (GO:0010257)	3.09485204
57	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.08934587
58	reproduction (GO:0000003)	3.07957123
59	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.07118033
60	cellular ketone body metabolic process (GO:0046950)	3.07010742
61	single fertilization (GO:0007338)	3.05503142
62	spermatogenesis (GO:0007283)	3.03028984
63	male gamete generation (GO:0048232)	3.02289361
64	cellular component biogenesis (GO:0044085)	3.02218129
65	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.01662543
66	translation (GO:0006412)	3.01426085
67	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.00510577
68	substrate-independent telencephalic tangential migration (GO:0021826)	3.00510577
69	cornea development in camera-type eye (GO:0061303)	2.99903965
70	pyrimidine nucleotide catabolic process (GO:0006244)	2.99866220
71	microtubule depolymerization (GO:0007019)	2.99260747
72	rRNA methylation (GO:0031167)	2.96302820
73	cranial nerve morphogenesis (GO:0021602)	2.94788234
74	cilium or flagellum-dependent cell motility (GO:0001539)	2.92653177
75	male meiosis I (GO:0007141)	2.90970186
76	mRNA catabolic process (GO:0006402)	2.90196671
77	protein neddylation (GO:0045116)	2.88844226
78	outer ear morphogenesis (GO:0042473)	2.88553027
79	ATP biosynthetic process (GO:0006754)	2.88459589
80	cell proliferation in forebrain (GO:0021846)	2.86407764
81	binding of sperm to zona pellucida (GO:0007339)	2.85436897
82	resolution of meiotic recombination intermediates (GO:0000712)	2.84875838
83	plasma membrane fusion (GO:0045026)	2.84557139
84	germ cell development (GO:0007281)	2.82355010
85	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.81467296
86	mitochondrial respiratory chain complex assembly (GO:0033108)	2.81170680
87	gamete generation (GO:0007276)	2.76498043
88	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	2.74932084
89	cell-cell recognition (GO:0009988)	2.73717515
90	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.72409788
91	centriole assembly (GO:0098534)	2.69366217
92	ketone body metabolic process (GO:1902224)	2.67361346
93	tooth mineralization (GO:0034505)	2.67241577
94	central nervous system myelination (GO:0022010)	2.61998817
95	axon ensheathment in central nervous system (GO:0032291)	2.61998817
96	axoneme assembly (GO:0035082)	2.60704051
97	GTP biosynthetic process (GO:0006183)	2.59325034
98	response to acidic pH (GO:0010447)	2.59048061
99	establishment of protein localization to Golgi (GO:0072600)	2.56975467
100	spermatid nucleus differentiation (GO:0007289)	2.56870018

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.28829180
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	5.14076699
3	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.28799102
4	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.27370010
5	EZH2_27294783_Chip-Seq_ESCs_Mouse	2.20555644
6	SUZ12_27294783_Chip-Seq_ESCs_Mouse	2.14990173
7	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.10059835
8	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.03542628
9	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.02852122
10	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.97383500
11	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.95879737
12	CTCF_27219007_Chip-Seq_Bcells_Human	1.95850800
13	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.93815381
14	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.89774423
15	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.86946995
16	ERA_21632823_ChIP-Seq_H3396_Human	1.74528760
17	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.71634082
18	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.70712834
19	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.70417909
20	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.66179012
21	P68_20966046_ChIP-Seq_HELA_Human	1.61147987
22	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.60504202
23	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.60504202
24	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.60474150
25	CTCF_20526341_ChIP-Seq_ESCs_Human	1.58994137
26	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.58736414
27	NANOG_20526341_ChIP-Seq_ESCs_Human	1.58692310
28	TAF2_19829295_ChIP-Seq_ESCs_Human	1.56524265
29	REST_21632747_ChIP-Seq_MESCs_Mouse	1.56315152
30	BCL6_27268052_Chip-Seq_Bcells_Human	1.55152987
31	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.52671268
32	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.52397066
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.52209672
34	E2F1_20622854_ChIP-Seq_HELA_Human	1.50273563
35	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.43412916
36	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.43222598
37	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.38792923
38	VDR_22108803_ChIP-Seq_LS180_Human	1.37807682
39	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.37346629
40	* GATA3_21878914_ChIP-Seq_MCF-7_Human	1.36896535
41	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.36456033
42	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.36303714
43	RAC3_21632823_ChIP-Seq_H3396_Human	1.34545241
44	PHF8_20622854_ChIP-Seq_HELA_Human	1.33722595
45	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.33654307
46	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.33654307
47	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.33380043
48	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.31499139
49	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.30457393
50	MYC_19829295_ChIP-Seq_ESCs_Human	1.30164842
51	SMC4_20622854_ChIP-Seq_HELA_Human	1.27147740
52	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.26738994
53	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.26569250
54	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.25730754
55	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.24483598
56	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.23945513
57	OCT4_20526341_ChIP-Seq_ESCs_Human	1.21757358
58	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.21223535
59	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.21139655
60	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.20724105
61	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.19963650
62	SA1_27219007_Chip-Seq_Bcells_Human	1.19057510
63	STAT1_20625510_ChIP-Seq_HELA_Human	1.18951314
64	LXR_22292898_ChIP-Seq_THP-1_Human	1.18919581
65	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.18365413
66	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.17408813
67	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.17148777
68	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.16880004
69	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.14275508
70	* P53_21459846_ChIP-Seq_SAOS-2_Human	1.13752996
71	BCOR_27268052_Chip-Seq_Bcells_Human	1.12364144
72	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.11436761
73	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.11155796
74	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.09729005
75	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.08878218
76	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.08210792
77	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.08174427
78	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.08032952
79	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.07241182
80	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.06370059
81	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.05506865
82	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.05385700
83	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.05031586
84	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.04980776
85	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04788127
86	NCOR_22424771_ChIP-Seq_293T_Human	1.04680409
87	RNF2_27304074_Chip-Seq_NSC_Mouse	1.04241877
88	XRN2_22483619_ChIP-Seq_HELA_Human	1.04032184
89	FUS_26573619_Chip-Seq_HEK293_Human	1.03778885
90	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.03278237
91	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.03008390
92	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.02878766
93	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.02660446
94	ZNF274_21170338_ChIP-Seq_K562_Hela	1.01829382
95	OCT4_19829295_ChIP-Seq_ESCs_Human	1.01315579
96	TP63_22573176_ChIP-Seq_HFKS_Human	0.99746628
97	P300_27268052_Chip-Seq_Bcells_Human	0.99227271
98	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.99010541
99	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.98732725
100	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.98602569

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	4.57623861
2	MP0009379_abnormal_foot_pigmentation	3.98845703
3	MP0002837_dystrophic_cardiac_calcinosis	3.85588876
4	MP0006292_abnormal_olfactory_placode	3.42533665
5	MP0003136_yellow_coat_color	3.10478723
6	MP0002653_abnormal_ependyma_morphology	3.04513995
7	MP0003646_muscle_fatigue	2.81405728
8	MP0003878_abnormal_ear_physiology	2.67273960
9	MP0005377_hearing/vestibular/ear_phenot	2.67273960
10	MP0003787_abnormal_imprinting	2.51979227
11	MP0003879_abnormal_hair_cell	2.36700487
12	MP0005670_abnormal_white_adipose	2.28287726
13	MP0002234_abnormal_pharynx_morphology	2.21378721
14	MP0002163_abnormal_gland_morphology	2.15885339
15	MP0003698_abnormal_male_reproductive	2.10770332
16	MP0003123_paternal_imprinting	1.85409415
17	MP0000049_abnormal_middle_ear	1.84328223
18	MP0008789_abnormal_olfactory_epithelium	1.79106919
19	MP0001929_abnormal_gametogenesis	1.77797491
20	MP0000678_abnormal_parathyroid_gland	1.76795981
21	MP0005499_abnormal_olfactory_system	1.76245331
22	MP0005394_taste/olfaction_phenotype	1.76245331
23	MP0002160_abnormal_reproductive_system	1.69839451
24	MP0005423_abnormal_somatic_nervous	1.66956283
25	MP0004142_abnormal_muscle_tone	1.66145177
26	MP0005379_endocrine/exocrine_gland_phen	1.65541212
27	MP0008877_abnormal_DNA_methylation	1.65268185
28	MP0004859_abnormal_synaptic_plasticity	1.61478828
29	MP0002249_abnormal_larynx_morphology	1.57688149
30	MP0000778_abnormal_nervous_system	1.56423261
31	MP0002272_abnormal_nervous_system	1.50567574
32	MP0003122_maternal_imprinting	1.48234218
33	MP0001485_abnormal_pinna_reflex	1.45716315
34	MP0002938_white_spotting	1.45701206
35	MP0006276_abnormal_autonomic_nervous	1.45240394
36	MP0003121_genomic_imprinting	1.44058246
37	MP0005551_abnormal_eye_electrophysiolog	1.43694849
38	MP0002210_abnormal_sex_determination	1.40533057
39	MP0000955_abnormal_spinal_cord	1.38953671
40	MP0001188_hyperpigmentation	1.37274333
41	MP0003890_abnormal_embryonic-extraembry	1.36585946
42	MP0010030_abnormal_orbit_morphology	1.34502118
43	MP0009745_abnormal_behavioral_response	1.33336084
44	MP0001293_anophthalmia	1.31981809
45	MP0005646_abnormal_pituitary_gland	1.26122881
46	MP0009053_abnormal_anal_canal	1.25177408
47	MP0001905_abnormal_dopamine_level	1.23595803
48	MP0000026_abnormal_inner_ear	1.22804939
49	MP0005623_abnormal_meninges_morphology	1.21710083
50	MP0009046_muscle_twitch	1.21352420
51	MP0001486_abnormal_startle_reflex	1.20020706
52	MP0002161_abnormal_fertility/fecundity	1.18737118
53	MP0001968_abnormal_touch/_nociception	1.18209957
54	MP0002735_abnormal_chemical_nociception	1.17961314
55	MP0002733_abnormal_thermal_nociception	1.17479573
56	MP0002572_abnormal_emotion/affect_behav	1.15966368
57	MP0004885_abnormal_endolymph	1.14757979
58	MP0003635_abnormal_synaptic_transmissio	1.13983596
59	MP0003880_abnormal_central_pattern	1.13640168
60	MP0002638_abnormal_pupillary_reflex	1.12433064
61	MP0001984_abnormal_olfaction	1.12376930
62	MP0003011_delayed_dark_adaptation	1.09486888
63	MP0001970_abnormal_pain_threshold	1.09415223
64	MP0001963_abnormal_hearing_physiology	1.07982260
65	MP0002138_abnormal_hepatobiliary_system	1.07357421
66	MP0005389_reproductive_system_phenotype	1.07236721
67	MP0002184_abnormal_innervation	1.07010128
68	MP0001145_abnormal_male_reproductive	1.06802971
69	MP0003315_abnormal_perineum_morphology	1.05853770
70	MP0002752_abnormal_somatic_nervous	1.05825095
71	MP0002063_abnormal_learning/memory/cond	1.05749454
72	MP0005171_absent_coat_pigmentation	1.03268667
73	MP0002067_abnormal_sensory_capabilities	0.99809712
74	MP0002557_abnormal_social/conspecific_i	0.99668280
75	MP0000631_abnormal_neuroendocrine_gland	0.99388543
76	MP0005195_abnormal_posterior_eye	0.99312677
77	MP0000653_abnormal_sex_gland	0.98230555
78	MP0002882_abnormal_neuron_morphology	0.96896508
79	MP0002095_abnormal_skin_pigmentation	0.94681833
80	MP0002064_seizures	0.94057169
81	MP0004147_increased_porphyrin_level	0.91606150
82	MP0002229_neurodegeneration	0.90534775
83	MP0001348_abnormal_lacrimal_gland	0.88719347
84	MP0001440_abnormal_grooming_behavior	0.86638149
85	MP0002132_abnormal_respiratory_system	0.86567514
86	MP0003942_abnormal_urinary_system	0.83749678
87	MP0002876_abnormal_thyroid_physiology	0.80688855
88	MP0002822_catalepsy	0.79902142
89	MP0004742_abnormal_vestibular_system	0.79688955
90	MP0003755_abnormal_palate_morphology	0.73337381
91	MP0002152_abnormal_brain_morphology	0.72511985
92	MP0009250_abnormal_appendicular_skeleto	0.71945929
93	MP0003938_abnormal_ear_development	0.71502276
94	MP0000750_abnormal_muscle_regeneration	0.71019802
95	MP0000534_abnormal_ureter_morphology	0.70536506
96	MP0000762_abnormal_tongue_morphology	0.69300570
97	MP0002736_abnormal_nociception_after	0.68700852
98	MP0002233_abnormal_nose_morphology	0.68434127
99	MP0000681_abnormal_thyroid_gland	0.67740134
100	MP0003137_abnormal_impulse_conducting	0.66954123

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Reticulocytopenia (HP:0001896)	4.63615596
2	Absent/shortened dynein arms (HP:0200106)	4.20893988
3	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.20893988
4	Type II lissencephaly (HP:0007260)	4.09887353
5	Severe visual impairment (HP:0001141)	3.90622699
6	Myokymia (HP:0002411)	3.86673489
7	Cerebellar dysplasia (HP:0007033)	3.86289921
8	Abnormal ciliary motility (HP:0012262)	3.61493113
9	Abnormality of cells of the erythroid lineage (HP:0012130)	3.53920339
10	Macrocytic anemia (HP:0001972)	3.46303087
11	Abnormal rod and cone electroretinograms (HP:0008323)	3.38878188
12	Abnormal respiratory motile cilium physiology (HP:0012261)	3.38726125
13	Retinal dysplasia (HP:0007973)	3.31489115
14	Chronic hepatic failure (HP:0100626)	3.30201650
15	Acute necrotizing encephalopathy (HP:0006965)	3.23987626
16	Abnormal respiratory epithelium morphology (HP:0012253)	3.23905792
17	Abnormal respiratory motile cilium morphology (HP:0005938)	3.23905792
18	Pallor (HP:0000980)	3.17948270
19	Double outlet right ventricle (HP:0001719)	3.11659046
20	Congenital malformation of the right heart (HP:0011723)	3.11659046
21	Abnormal mitochondria in muscle tissue (HP:0008316)	3.07330399
22	Nephronophthisis (HP:0000090)	3.03176961
23	Retinal atrophy (HP:0001105)	2.99380602
24	Hyperthyroidism (HP:0000836)	2.98885099
25	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.82754937
26	Acute encephalopathy (HP:0006846)	2.81797593
27	Pancreatic fibrosis (HP:0100732)	2.81055949
28	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.79293259
29	Abnormality of midbrain morphology (HP:0002418)	2.70988004
30	Molar tooth sign on MRI (HP:0002419)	2.70988004
31	Sclerocornea (HP:0000647)	2.67625230
32	Focal motor seizures (HP:0011153)	2.65480631
33	Abnormality of DNA repair (HP:0003254)	2.61502740
34	Pancreatic cysts (HP:0001737)	2.61292786
35	Pendular nystagmus (HP:0012043)	2.61007968
36	Mitochondrial inheritance (HP:0001427)	2.57647598
37	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.55610584
38	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.51233944
39	Bony spicule pigmentary retinopathy (HP:0007737)	2.50977053
40	Infertility (HP:0000789)	2.50382120
41	Abnormality of the renal medulla (HP:0100957)	2.49583066
42	Renal Fanconi syndrome (HP:0001994)	2.47656877
43	Amelogenesis imperfecta (HP:0000705)	2.46679016
44	Progressive macrocephaly (HP:0004481)	2.41145095
45	Abnormal number of erythroid precursors (HP:0012131)	2.35819304
46	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.34531295
47	Renal dysplasia (HP:0000110)	2.33455841
48	Colon cancer (HP:0003003)	2.31647570
49	Abnormality of the aortic arch (HP:0012303)	2.26618239
50	Increased CSF lactate (HP:0002490)	2.24068541
51	Abolished electroretinogram (ERG) (HP:0000550)	2.21510412
52	Abnormal drinking behavior (HP:0030082)	2.20075522
53	Polydipsia (HP:0001959)	2.20075522
54	Progressive cerebellar ataxia (HP:0002073)	2.18684498
55	Anencephaly (HP:0002323)	2.07287989
56	True hermaphroditism (HP:0010459)	2.06996433
57	Abnormality of macular pigmentation (HP:0008002)	2.06744013
58	3-Methylglutaconic aciduria (HP:0003535)	2.05775764
59	Hypoplasia of the pons (HP:0012110)	2.05416460
60	Hyperglycinemia (HP:0002154)	2.05294379
61	Stenosis of the external auditory canal (HP:0000402)	2.04823579
62	Medial flaring of the eyebrow (HP:0010747)	2.03427648
63	Septo-optic dysplasia (HP:0100842)	2.00231885
64	Tubulointerstitial nephritis (HP:0001970)	1.98709454
65	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.97012462
66	Hypoplasia of the brainstem (HP:0002365)	1.97012462
67	Rectal prolapse (HP:0002035)	1.95822391
68	Polyuria (HP:0000103)	1.94812844
69	Absent thumb (HP:0009777)	1.91997394
70	Aplasia/Hypoplasia affecting the retina (HP:0008061)	1.91633039
71	Occipital encephalocele (HP:0002085)	1.91171854
72	Attenuation of retinal blood vessels (HP:0007843)	1.90459469
73	Cystic liver disease (HP:0006706)	1.89856354
74	Tubular atrophy (HP:0000092)	1.88434545
75	Maternal diabetes (HP:0009800)	1.88065470
76	Truncus arteriosus (HP:0001660)	1.87407992
77	Cerebral edema (HP:0002181)	1.86642632
78	Lissencephaly (HP:0001339)	1.85687432
79	Optic disc pallor (HP:0000543)	1.85651698
80	Depressed nasal ridge (HP:0000457)	1.83469529
81	Congenital stationary night blindness (HP:0007642)	1.83338967
82	Optic nerve coloboma (HP:0000588)	1.83224327
83	Impulsivity (HP:0100710)	1.82540379
84	Muscle fiber atrophy (HP:0100295)	1.82401902
85	Abnormality of renal resorption (HP:0011038)	1.81919863
86	Abnormal urine output (HP:0012590)	1.79601052
87	Type 2 muscle fiber atrophy (HP:0003554)	1.78658859
88	Hepatocellular necrosis (HP:0001404)	1.77707828
89	Polyphagia (HP:0002591)	1.76876932
90	Abnormality of the pons (HP:0007361)	1.75785965
91	Optic nerve hypoplasia (HP:0000609)	1.75373185
92	Abnormal hemoglobin (HP:0011902)	1.74195891
93	Amblyopia (HP:0000646)	1.72422077
94	Oligodactyly (hands) (HP:0001180)	1.72025153
95	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.71898147
96	Pachygyria (HP:0001302)	1.71540574
97	Anophthalmia (HP:0000528)	1.71539915
98	Enlarged kidneys (HP:0000105)	1.68680643
99	Potter facies (HP:0002009)	1.68666530
100	Facial shape deformation (HP:0011334)	1.68666530

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PRKD3	3.73598977
2	STK16	3.65788673
3	PLK4	3.12097664
4	PINK1	3.04563424
5	STK38L	3.03019731
6	LATS1	2.98237779
7	NME2	2.91660444
8	WNK4	2.18523084
9	STK38	2.09453941
10	LATS2	2.04555275
11	DYRK2	2.02095433
12	MARK3	1.96077031
13	MAP4K2	1.84518764
14	ZAK	1.83911068
15	BMPR1B	1.81691357
16	BRAF	1.81213897
17	TAF1	1.80359585
18	VRK2	1.72194322
19	CDK19	1.68185677
20	MAP3K9	1.65819273
21	MAP2K2	1.42517673
22	TLK1	1.39561394
23	ARAF	1.39266737
24	BCKDK	1.34746627
25	MAP3K11	1.30780305
26	PDK2	1.30349968
27	STK11	1.27028358
28	CAMK1G	1.26500626
29	INSRR	1.24596763
30	NUAK1	1.19377683
31	PIK3CA	1.19227290
32	ADRBK2	1.17396331
33	PRKCG	1.14222260
34	STK39	1.13150661
35	MAP2K7	1.07408307
36	PDPK1	1.04102632
37	ABL2	1.01894685
38	CAMK1D	1.00572098
39	NTRK2	1.00158070
40	NEK2	0.95091920
41	MAPK15	0.94637244
42	TYRO3	0.93626828
43	CAMK1	0.93280319
44	FRK	0.88744968
45	PLK2	0.88615111
46	CSNK1A1L	0.85665845
47	EPHB2	0.84471488
48	WNK1	0.82490592
49	NTRK3	0.79576456
50	DYRK3	0.78741209
51	MARK1	0.77522545
52	CSNK1G3	0.77517380
53	CASK	0.76409284
54	DMPK	0.74756174
55	DYRK1B	0.74754035
56	CSNK1G2	0.72590596
57	SGK494	0.71754776
58	SGK223	0.71754776
59	MAP3K4	0.71113843
60	GRK5	0.70366989
61	GRK1	0.69784324
62	NME1	0.69502696
63	AURKA	0.67114610
64	PNCK	0.64368195
65	STK10	0.63909953
66	DDR2	0.63295743
67	CAMKK2	0.61410861
68	STK3	0.59977418
69	PRKCI	0.58285275
70	RPS6KA6	0.58183912
71	TESK1	0.57294483
72	PIM1	0.56125959
73	SMG1	0.55565594
74	CSNK1G1	0.54032154
75	VRK1	0.52731534
76	RPS6KA2	0.51726785
77	NLK	0.50755869
78	RPS6KA5	0.49343510
79	OXSR1	0.47441749
80	CHEK2	0.47105490
81	MELK	0.46352608
82	PRKCH	0.45447588
83	PRKCZ	0.45231885
84	MINK1	0.45169268
85	RPS6KL1	0.44760656
86	RPS6KC1	0.44760656
87	PRKCQ	0.44664078
88	PDK1	0.42675390
89	DAPK3	0.42441960
90	PRKACA	0.42356257
91	AKT3	0.42188503
92	ADRBK1	0.42161841
93	CSNK2A2	0.39560565
94	PTK2B	0.39254868
95	CSNK1E	0.38010259
96	PLK1	0.37935665
97	PIM2	0.37553041
98	CDK5	0.36225271
99	LRRK2	0.35893355
100	TIE1	0.35223046

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	6.76319198
2	Sulfur relay system_Homo sapiens_hsa04122	3.79786729
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.78250160
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.14106069
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.09787022
6	Parkinsons disease_Homo sapiens_hsa05012	3.04391435
7	Cardiac muscle contraction_Homo sapiens_hsa04260	2.65034019
8	Huntingtons disease_Homo sapiens_hsa05016	2.59763476
9	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.33859333
10	Phototransduction_Homo sapiens_hsa04744	2.27002184
11	Alzheimers disease_Homo sapiens_hsa05010	2.20495072
12	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.96743627
13	Nicotine addiction_Homo sapiens_hsa05033	1.94572627
14	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.77769720
15	RNA polymerase_Homo sapiens_hsa03020	1.75687399
16	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.73208627
17	Butanoate metabolism_Homo sapiens_hsa00650	1.71963626
18	Olfactory transduction_Homo sapiens_hsa04740	1.68256841
19	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.55446895
20	Basal transcription factors_Homo sapiens_hsa03022	1.34576121
21	Basal cell carcinoma_Homo sapiens_hsa05217	1.31855127
22	Phenylalanine metabolism_Homo sapiens_hsa00360	1.27768948
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.21722161
24	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.20166489
25	Morphine addiction_Homo sapiens_hsa05032	1.19483850
26	Fanconi anemia pathway_Homo sapiens_hsa03460	1.18142451
27	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.11029995
28	Pyrimidine metabolism_Homo sapiens_hsa00240	1.10598153
29	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.09138925
30	Arginine and proline metabolism_Homo sapiens_hsa00330	1.07647097
31	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.06065269
32	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.04948252
33	Homologous recombination_Homo sapiens_hsa03440	1.04417913
34	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.02334490
35	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.01892729
36	Linoleic acid metabolism_Homo sapiens_hsa00591	1.01053816
37	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.97850884
38	Taste transduction_Homo sapiens_hsa04742	0.95445203
39	Fatty acid degradation_Homo sapiens_hsa00071	0.93201921
40	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.92823652
41	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.90957984
42	Peroxisome_Homo sapiens_hsa04146	0.83405479
43	Insulin secretion_Homo sapiens_hsa04911	0.82831565
44	Purine metabolism_Homo sapiens_hsa00230	0.81061216
45	Metabolic pathways_Homo sapiens_hsa01100	0.80991985
46	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.80705533
47	Nitrogen metabolism_Homo sapiens_hsa00910	0.79589072
48	GABAergic synapse_Homo sapiens_hsa04727	0.73891871
49	Collecting duct acid secretion_Homo sapiens_hsa04966	0.72730835
50	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.67563558
51	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.67313737
52	Fat digestion and absorption_Homo sapiens_hsa04975	0.66936849
53	Glutamatergic synapse_Homo sapiens_hsa04724	0.66903541
54	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.63020670
55	Tyrosine metabolism_Homo sapiens_hsa00350	0.61557261
56	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.60668390
57	One carbon pool by folate_Homo sapiens_hsa00670	0.60004425
58	Pyruvate metabolism_Homo sapiens_hsa00620	0.59199123
59	Nucleotide excision repair_Homo sapiens_hsa03420	0.54010384
60	Retinol metabolism_Homo sapiens_hsa00830	0.51776779
61	Tryptophan metabolism_Homo sapiens_hsa00380	0.51338014
62	Base excision repair_Homo sapiens_hsa03410	0.51063064
63	Serotonergic synapse_Homo sapiens_hsa04726	0.49215029
64	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.48112306
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.46575052
66	RNA degradation_Homo sapiens_hsa03018	0.45199546
67	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.45086262
68	Calcium signaling pathway_Homo sapiens_hsa04020	0.44975133
69	Cholinergic synapse_Homo sapiens_hsa04725	0.44870225
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.44650558
71	RNA transport_Homo sapiens_hsa03013	0.43495852
72	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.41001509
73	Circadian entrainment_Homo sapiens_hsa04713	0.40864556
74	cAMP signaling pathway_Homo sapiens_hsa04024	0.40368420
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.39074188
76	Salivary secretion_Homo sapiens_hsa04970	0.38165689
77	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37841128
78	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.36809303
79	Hippo signaling pathway_Homo sapiens_hsa04390	0.35371669
80	Selenocompound metabolism_Homo sapiens_hsa00450	0.35095552
81	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.31890683
82	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.31881085
83	Steroid biosynthesis_Homo sapiens_hsa00100	0.31413312
84	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.29491723
85	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.28371638
86	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.27064236
87	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.26505031
88	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.26340125
89	Folate biosynthesis_Homo sapiens_hsa00790	0.26145809
90	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.24804350
91	Melanogenesis_Homo sapiens_hsa04916	0.24433766
92	Gastric acid secretion_Homo sapiens_hsa04971	0.24244438
93	Sulfur metabolism_Homo sapiens_hsa00920	0.23436552
94	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.22514507
95	Chemical carcinogenesis_Homo sapiens_hsa05204	0.22459152
96	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.22430486
97	Sphingolipid metabolism_Homo sapiens_hsa00600	0.22041092
98	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.21602927
99	Bile secretion_Homo sapiens_hsa04976	0.21247518
100	VEGF signaling pathway_Homo sapiens_hsa04370	0.19743152

C12ORF54

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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