ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.99877093
2	behavioral response to nicotine (GO:0035095)	4.92251575
3	cilium or flagellum-dependent cell motility (GO:0001539)	4.48820020
4	preassembly of GPI anchor in ER membrane (GO:0016254)	4.31739228
5	epithelial cilium movement (GO:0003351)	4.19591052
6	regulation of isotype switching to IgG isotypes (GO:0048302)	4.18410663
7	iron-sulfur cluster assembly (GO:0016226)	4.15529036
8	metallo-sulfur cluster assembly (GO:0031163)	4.15529036
9	cilium movement (GO:0003341)	4.00428683
10	platelet dense granule organization (GO:0060155)	3.97806739
11	base-excision repair, AP site formation (GO:0006285)	3.95821431
12	mannosylation (GO:0097502)	3.70623322
13	intraciliary transport (GO:0042073)	3.64318377
14	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.59119956
15	lens fiber cell development (GO:0070307)	3.25717780
16	axonemal dynein complex assembly (GO:0070286)	3.23457134
17	phosphatidylglycerol biosynthetic process (GO:0006655)	3.19988483
18	C-terminal protein lipidation (GO:0006501)	3.16713255
19	positive regulation of defense response to virus by host (GO:0002230)	3.14072562
20	lipopolysaccharide biosynthetic process (GO:0009103)	3.13822017
21	alpha-beta T cell differentiation involved in immune response (GO:0002293)	3.13724501
22	alpha-beta T cell activation involved in immune response (GO:0002287)	3.13724501
23	T cell differentiation involved in immune response (GO:0002292)	3.13724501
24	neural tube formation (GO:0001841)	3.11479209
25	axoneme assembly (GO:0035082)	3.10550510
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.09899785
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.09899785
28	NADH dehydrogenase complex assembly (GO:0010257)	3.09899785
29	cilium morphogenesis (GO:0060271)	3.06967309
30	C-terminal protein amino acid modification (GO:0018410)	3.04409530
31	ubiquinone biosynthetic process (GO:0006744)	3.03766306
32	protein localization to cilium (GO:0061512)	3.00114504
33	peptidyl-histidine modification (GO:0018202)	2.94716113
34	amino acid salvage (GO:0043102)	2.92814857
35	L-methionine salvage (GO:0071267)	2.92814857
36	L-methionine biosynthetic process (GO:0071265)	2.92814857
37	cornea development in camera-type eye (GO:0061303)	2.92269141
38	synaptic transmission, cholinergic (GO:0007271)	2.88726460
39	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.84354953
40	positive regulation of protein kinase C signaling (GO:0090037)	2.83697857
41	positive regulation of CREB transcription factor activity (GO:0032793)	2.81896695
42	nonmotile primary cilium assembly (GO:0035058)	2.81867183
43	motile cilium assembly (GO:0044458)	2.81818638
44	positive regulation of isotype switching (GO:0045830)	2.81239775
45	spinal cord association neuron differentiation (GO:0021527)	2.80063274
46	rRNA catabolic process (GO:0016075)	2.79366577
47	neurotransmitter catabolic process (GO:0042135)	2.78914172
48	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	2.78811878
49	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	2.78811878
50	positive regulation of gastrulation (GO:2000543)	2.78430110
51	nephron epithelium morphogenesis (GO:0072088)	2.78241243
52	nephron tubule morphogenesis (GO:0072078)	2.78241243
53	cilium organization (GO:0044782)	2.77757796
54	protein-cofactor linkage (GO:0018065)	2.77757121
55	regulation of cilium movement (GO:0003352)	2.76147366
56	head development (GO:0060322)	2.74629507
57	pyrimidine nucleotide catabolic process (GO:0006244)	2.74098246
58	cellular response to exogenous dsRNA (GO:0071360)	2.73892414
59	histone H2A monoubiquitination (GO:0035518)	2.73496085
60	positive regulation of prostaglandin secretion (GO:0032308)	2.73281655
61	ubiquinone metabolic process (GO:0006743)	2.72725123
62	pyrimidine nucleobase catabolic process (GO:0006208)	2.72452619
63	cilium assembly (GO:0042384)	2.71890254
64	protein import into peroxisome matrix (GO:0016558)	2.71520377
65	regulation of germinal center formation (GO:0002634)	2.71297630
66	protein deneddylation (GO:0000338)	2.70894625
67	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.69005213
68	negative regulation of telomere maintenance (GO:0032205)	2.66877243
69	protein complex biogenesis (GO:0070271)	2.64322081
70	negative regulation of cAMP-mediated signaling (GO:0043951)	2.63029008
71	lipopolysaccharide metabolic process (GO:0008653)	2.62883676
72	left/right axis specification (GO:0070986)	2.62728443
73	cerebellar Purkinje cell differentiation (GO:0021702)	2.62041643
74	organic cation transport (GO:0015695)	2.60987328
75	branched-chain amino acid catabolic process (GO:0009083)	2.59715786
76	anterograde synaptic vesicle transport (GO:0048490)	2.59705680
77	left/right pattern formation (GO:0060972)	2.59081296
78	positive regulation of mitochondrial fission (GO:0090141)	2.58665064
79	arginine catabolic process (GO:0006527)	2.58064687
80	fucose catabolic process (GO:0019317)	2.58037162
81	L-fucose metabolic process (GO:0042354)	2.58037162
82	L-fucose catabolic process (GO:0042355)	2.58037162
83	interferon-gamma production (GO:0032609)	2.56318400
84	cell differentiation in spinal cord (GO:0021515)	2.53937397
85	activated T cell proliferation (GO:0050798)	2.53603447
86	dopamine transport (GO:0015872)	2.52509937
87	T-helper cell differentiation (GO:0042093)	2.52210554
88	CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)	2.52210554
89	positive regulation of protein homodimerization activity (GO:0090073)	2.51370292
90	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.50523806
91	postsynaptic membrane organization (GO:0001941)	2.48921219
92	S-adenosylmethionine metabolic process (GO:0046500)	2.48748302
93	positive regulation of fatty acid transport (GO:2000193)	2.48553078
94	neurotransmitter metabolic process (GO:0042133)	2.47910151
95	tRNA modification (GO:0006400)	2.45516711
96	protein insertion into membrane (GO:0051205)	2.43003061
97	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.42831736
98	positive regulation of icosanoid secretion (GO:0032305)	2.42063497
99	cullin deneddylation (GO:0010388)	2.40979561
100	cellular ketone body metabolic process (GO:0046950)	2.40469046

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.69780219
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.70347896
3	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	3.50101369
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.32677999
5	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.30716192
6	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.89700113
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.69919289
8	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.60693994
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.22190855
10	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.11724075
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.11642220
12	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.05610318
13	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.96200626
14	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.89034656
15	ERA_21632823_ChIP-Seq_H3396_Human	1.87006444
16	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.86507302
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.86372769
18	P68_20966046_ChIP-Seq_HELA_Human	1.82929400
19	GABP_19822575_ChIP-Seq_HepG2_Human	1.80390018
20	PHF8_20622854_ChIP-Seq_HELA_Human	1.73646322
21	BCL6_27268052_Chip-Seq_Bcells_Human	1.71606391
22	E2F1_20622854_ChIP-Seq_HELA_Human	1.68156225
23	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.66779205
24	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.65398427
25	VDR_23849224_ChIP-Seq_CD4+_Human	1.61553893
26	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.56799063
27	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.56336024
28	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.54033550
29	CIITA_25753668_ChIP-Seq_RAJI_Human	1.53043454
30	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.51177298
31	DROSHA_22980978_ChIP-Seq_HELA_Human	1.48359914
32	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.44694228
33	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.44233535
34	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.44117115
35	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.42678017
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.42572849
37	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.40353207
38	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.39623571
39	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.37589789
40	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.37308053
41	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.36146105
42	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.35924918
43	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.34968422
44	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.34004026
45	BCOR_27268052_Chip-Seq_Bcells_Human	1.33342257
46	VDR_21846776_ChIP-Seq_THP-1_Human	1.32961217
47	CTCF_20526341_ChIP-Seq_ESCs_Human	1.32923023
48	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.31964986
49	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.30828847
50	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.30109976
51	REST_21632747_ChIP-Seq_MESCs_Mouse	1.29566973
52	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.28887218
53	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.28610394
54	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.26710114
55	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.24695440
56	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.24384453
57	* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.22639351
58	MYC_18940864_ChIP-ChIP_HL60_Human	1.21913036
59	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.20684065
60	FOXP3_21729870_ChIP-Seq_TREG_Human	1.20334402
61	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.19798876
62	* RAC3_21632823_ChIP-Seq_H3396_Human	1.18260561
63	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.16389762
64	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.15691069
65	KDM5A_27292631_Chip-Seq_BREAST_Human	1.15682104
66	OCT4_20526341_ChIP-Seq_ESCs_Human	1.15660308
67	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.14063327
68	P300_27268052_Chip-Seq_Bcells_Human	1.12622359
69	IRF1_19129219_ChIP-ChIP_H3396_Human	1.12037307
70	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.10990739
71	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.10361267
72	STAT1_20625510_ChIP-Seq_HELA_Human	1.05709032
73	TAF2_19829295_ChIP-Seq_ESCs_Human	1.05313837
74	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.04707314
75	OCT4_19829295_ChIP-Seq_ESCs_Human	1.04065755
76	LXR_22292898_ChIP-Seq_THP-1_Human	1.03704954
77	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.03622462
78	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.02470097
79	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.01833326
80	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.01419117
81	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.00148973
82	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.99273444
83	CTCF_27219007_Chip-Seq_Bcells_Human	0.99071905
84	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.98980833
85	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.98944484
86	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.98177150
87	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.98090008
88	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.97265491
89	P53_21459846_ChIP-Seq_SAOS-2_Human	0.96379241
90	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.92943023
91	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.92929404
92	FLI1_21867929_ChIP-Seq_CD8_Mouse	0.91837555
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.91760373
94	NANOG_20526341_ChIP-Seq_ESCs_Human	0.91502832
95	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.91431762
96	SMC4_20622854_ChIP-Seq_HELA_Human	0.90928693
97	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.90905331
98	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.90722555
99	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.89826017
100	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.89809880

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	4.41762950
2	MP0001986_abnormal_taste_sensitivity	2.80581945
3	MP0006292_abnormal_olfactory_placode	2.62681879
4	MP0003172_abnormal_lysosome_physiology	2.59728474
5	MP0008789_abnormal_olfactory_epithelium	2.25972270
6	MP0001968_abnormal_touch/_nociception	2.24929983
7	MP0002132_abnormal_respiratory_system	2.24759222
8	MP0004133_heterotaxia	2.16569395
9	MP0003787_abnormal_imprinting	2.08285320
10	MP0006276_abnormal_autonomic_nervous	2.06279632
11	MP0005499_abnormal_olfactory_system	2.05631296
12	MP0005394_taste/olfaction_phenotype	2.05631296
13	MP0000372_irregular_coat_pigmentation	2.02430640
14	MP0005671_abnormal_response_to	1.94276113
15	MP0002102_abnormal_ear_morphology	1.92445273
16	MP0009046_muscle_twitch	1.92137058
17	MP0005551_abnormal_eye_electrophysiolog	1.85499041
18	MP0009278_abnormal_bone_marrow	1.82831805
19	MP0002876_abnormal_thyroid_physiology	1.80174139
20	MP0005645_abnormal_hypothalamus_physiol	1.78582629
21	MP0001873_stomach_inflammation	1.76887843
22	MP0008877_abnormal_DNA_methylation	1.75189055
23	MP0005253_abnormal_eye_physiology	1.67700525
24	MP0003880_abnormal_central_pattern	1.66222519
25	MP0005075_abnormal_melanosome_morpholog	1.62220957
26	MP0002736_abnormal_nociception_after	1.57382859
27	MP0006072_abnormal_retinal_apoptosis	1.57042931
28	MP0005171_absent_coat_pigmentation	1.56919842
29	MP0002735_abnormal_chemical_nociception	1.52225141
30	MP0005174_abnormal_tail_pigmentation	1.50523376
31	MP0002095_abnormal_skin_pigmentation	1.48573051
32	MP0005058_abnormal_lysosome_morphology	1.48413105
33	MP0000015_abnormal_ear_pigmentation	1.45923581
34	MP0004147_increased_porphyrin_level	1.40500879
35	MP0001984_abnormal_olfaction	1.40098237
36	MP0003136_yellow_coat_color	1.35388697
37	MP0000538_abnormal_urinary_bladder	1.33455320
38	MP0003283_abnormal_digestive_organ	1.33071360
39	MP0008875_abnormal_xenobiotic_pharmacok	1.32829764
40	MP0001270_distended_abdomen	1.28841936
41	MP0009745_abnormal_behavioral_response	1.28071423
42	MP0003195_calcinosis	1.27060117
43	MP0004043_abnormal_pH_regulation	1.26010912
44	MP0002751_abnormal_autonomic_nervous	1.23069115
45	MP0002064_seizures	1.21805309
46	MP0002572_abnormal_emotion/affect_behav	1.21247840
47	MP0002234_abnormal_pharynx_morphology	1.20862006
48	MP0002272_abnormal_nervous_system	1.20421411
49	MP0002557_abnormal_social/conspecific_i	1.20293880
50	MP0003011_delayed_dark_adaptation	1.20100477
51	MP0005167_abnormal_blood-brain_barrier	1.16578125
52	MP0002063_abnormal_learning/memory/cond	1.08764998
53	MP0000427_abnormal_hair_cycle	1.07530410
54	MP0000049_abnormal_middle_ear	1.07387828
55	MP0002638_abnormal_pupillary_reflex	1.06277061
56	MP0001293_anophthalmia	1.05859981
57	MP0001764_abnormal_homeostasis	1.04628259
58	MP0006082_CNS_inflammation	1.01029211
59	MP0002933_joint_inflammation	1.00553603
60	MP0003183_abnormal_peptide_metabolism	0.96583281
61	MP0000013_abnormal_adipose_tissue	0.95039713
62	MP0003635_abnormal_synaptic_transmissio	0.94863654
63	MP0001963_abnormal_hearing_physiology	0.94395157
64	MP0002184_abnormal_innervation	0.94144917
65	MP0002938_white_spotting	0.93688443
66	MP0001970_abnormal_pain_threshold	0.93064475
67	MP0002249_abnormal_larynx_morphology	0.92212606
68	MP0002928_abnormal_bile_duct	0.91211128
69	MP0000026_abnormal_inner_ear	0.90756929
70	MP0002752_abnormal_somatic_nervous	0.90274373
71	MP0000681_abnormal_thyroid_gland	0.89852666
72	MP0004142_abnormal_muscle_tone	0.89285349
73	MP0001919_abnormal_reproductive_system	0.88987654
74	MP0004885_abnormal_endolymph	0.88625414
75	MP0009384_cardiac_valve_regurgitation	0.87548380
76	MP0002229_neurodegeneration	0.87532044
77	MP0001835_abnormal_antigen_presentation	0.86620868
78	MP0001529_abnormal_vocalization	0.85927413
79	MP0005391_vision/eye_phenotype	0.83588106
80	MP0002405_respiratory_system_inflammati	0.83225836
81	MP0008569_lethality_at_weaning	0.82103775
82	MP0002733_abnormal_thermal_nociception	0.80837357
83	MP0001502_abnormal_circadian_rhythm	0.79033907
84	MP0005386_behavior/neurological_phenoty	0.77739452
85	MP0004924_abnormal_behavior	0.77739452
86	MP0002067_abnormal_sensory_capabilities	0.77306470
87	MP0005408_hypopigmentation	0.77242374
88	MP0008872_abnormal_physiological_respon	0.76444292
89	MP0002837_dystrophic_cardiac_calcinosis	0.76229217
90	MP0001905_abnormal_dopamine_level	0.76106677
91	MP0002882_abnormal_neuron_morphology	0.75892329
92	MP0000955_abnormal_spinal_cord	0.73893030
93	MP0005423_abnormal_somatic_nervous	0.73236933
94	MP0005397_hematopoietic_system_phenotyp	0.73189144
95	MP0001545_abnormal_hematopoietic_system	0.73189144
96	MP0001501_abnormal_sleep_pattern	0.72979241
97	MP0000569_abnormal_digit_pigmentation	0.72961705
98	MP0005195_abnormal_posterior_eye	0.72779806
99	MP0002277_abnormal_respiratory_mucosa	0.72403353
100	MP0001790_abnormal_immune_system	0.71853737

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.38128924
2	Abnormality of midbrain morphology (HP:0002418)	4.38128924
3	Nephronophthisis (HP:0000090)	3.88637321
4	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.84317489
5	Type II lissencephaly (HP:0007260)	3.82758322
6	Abnormal rod and cone electroretinograms (HP:0008323)	3.49273680
7	Chronic hepatic failure (HP:0100626)	3.43088780
8	Decreased central vision (HP:0007663)	3.39826393
9	Absent/shortened dynein arms (HP:0200106)	3.27596697
10	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.27596697
11	Congenital stationary night blindness (HP:0007642)	3.26669014
12	Pancreatic fibrosis (HP:0100732)	3.22378432
13	Nasal polyposis (HP:0100582)	3.16109513
14	Pancreatic cysts (HP:0001737)	3.10627065
15	Abnormal respiratory epithelium morphology (HP:0012253)	3.09660949
16	Abnormal respiratory motile cilium morphology (HP:0005938)	3.09660949
17	Retinal dysplasia (HP:0007973)	3.03754274
18	Abnormality of the renal medulla (HP:0100957)	3.03557547
19	Medial flaring of the eyebrow (HP:0010747)	3.02337680
20	J-shaped sella turcica (HP:0002680)	2.89907487
21	Abnormal ciliary motility (HP:0012262)	2.85592646
22	Disproportionate short-trunk short stature (HP:0003521)	2.81493147
23	Attenuation of retinal blood vessels (HP:0007843)	2.77788864
24	Keratoconus (HP:0000563)	2.77558208
25	Increased corneal curvature (HP:0100692)	2.77558208
26	Rib fusion (HP:0000902)	2.74956702
27	Cystic liver disease (HP:0006706)	2.71509129
28	Abnormality of the nasal mucosa (HP:0000433)	2.69408091
29	Severe combined immunodeficiency (HP:0004430)	2.67923993
30	True hermaphroditism (HP:0010459)	2.65268627
31	Microretrognathia (HP:0000308)	2.56194331
32	Abnormal biliary tract physiology (HP:0012439)	2.52593382
33	Bile duct proliferation (HP:0001408)	2.52593382
34	Mesangial abnormality (HP:0001966)	2.51351622
35	Type 2 muscle fiber atrophy (HP:0003554)	2.51297551
36	Occipital encephalocele (HP:0002085)	2.48963649
37	Testicular atrophy (HP:0000029)	2.48520678
38	Broad distal phalanx of finger (HP:0009836)	2.47530102
39	Gait imbalance (HP:0002141)	2.45217624
40	Abnormality of B cell number (HP:0010975)	2.39463004
41	Congenital primary aphakia (HP:0007707)	2.39065357
42	Tubular atrophy (HP:0000092)	2.36976755
43	B lymphocytopenia (HP:0010976)	2.36318703
44	Tachypnea (HP:0002789)	2.35696869
45	Muscle fiber atrophy (HP:0100295)	2.31194423
46	Pendular nystagmus (HP:0012043)	2.28617230
47	Progressive microcephaly (HP:0000253)	2.27801350
48	3-Methylglutaconic aciduria (HP:0003535)	2.27387019
49	Delayed CNS myelination (HP:0002188)	2.24707533
50	Bony spicule pigmentary retinopathy (HP:0007737)	2.24582743
51	Nephrogenic diabetes insipidus (HP:0009806)	2.23610565
52	Abnormal respiratory motile cilium physiology (HP:0012261)	2.22961675
53	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.20817289
54	Abnormality of the renal cortex (HP:0011035)	2.19606399
55	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.18648733
56	Cerebellar dysplasia (HP:0007033)	2.18282470
57	Lissencephaly (HP:0001339)	2.17515558
58	Thyroiditis (HP:0100646)	2.16351534
59	Pachygyria (HP:0001302)	2.13764201
60	Asplenia (HP:0001746)	2.05643774
61	Polydipsia (HP:0001959)	2.02989961
62	Abnormal drinking behavior (HP:0030082)	2.02989961
63	Esotropia (HP:0000565)	2.02530817
64	Postaxial foot polydactyly (HP:0001830)	2.01493023
65	IgG deficiency (HP:0004315)	2.00726018
66	Congenital hepatic fibrosis (HP:0002612)	1.98184623
67	Hypoplasia of the brainstem (HP:0002365)	1.92277962
68	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.92277962
69	Agitation (HP:0000713)	1.89174487
70	Visual hallucinations (HP:0002367)	1.88839080
71	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.88715923
72	Abnormality of polysaccharide metabolism (HP:0011012)	1.88715923
73	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.88715923
74	Combined immunodeficiency (HP:0005387)	1.85717052
75	Hyperventilation (HP:0002883)	1.81602838
76	Inability to walk (HP:0002540)	1.78305641
77	Hypoplasia of the thymus (HP:0000778)	1.77188371
78	Postaxial hand polydactyly (HP:0001162)	1.76912486
79	Aganglionic megacolon (HP:0002251)	1.74026481
80	Zonular cataract (HP:0010920)	1.72034366
81	Stridor (HP:0010307)	1.71982694
82	Polymicrogyria (HP:0002126)	1.71461712
83	Optic nerve coloboma (HP:0000588)	1.71441408
84	Tented upper lip vermilion (HP:0010804)	1.70773549
85	Hypsarrhythmia (HP:0002521)	1.69420808
86	Genetic anticipation (HP:0003743)	1.69404699
87	Dysostosis multiplex (HP:0000943)	1.68723361
88	Anencephaly (HP:0002323)	1.68409745
89	Focal motor seizures (HP:0011153)	1.67499018
90	Nephrotic syndrome (HP:0000100)	1.67161872
91	Rhinitis (HP:0012384)	1.67032233
92	Retinal atrophy (HP:0001105)	1.66270587
93	Oculomotor apraxia (HP:0000657)	1.66173052
94	Aplasia/Hypoplasia of the patella (HP:0006498)	1.65799122
95	Retinitis pigmentosa (HP:0000510)	1.65258313
96	Patellar aplasia (HP:0006443)	1.64272654
97	Renal cortical cysts (HP:0000803)	1.63244506
98	Sclerocornea (HP:0000647)	1.61387337
99	Tubulointerstitial nephritis (HP:0001970)	1.59352150
100	Large eyes (HP:0001090)	1.58726192

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	4.54467656
2	TESK2	4.18381185
3	PRKD3	2.76303961
4	WNK4	2.73763446
5	BCKDK	2.69013313
6	GRK1	2.46957444
7	TXK	2.44146590
8	MAPK13	2.25913759
9	ADRBK2	2.22374035
10	INSRR	2.15230509
11	FRK	1.93395725
12	MAPK15	1.93307741
13	TAOK3	1.90139806
14	CDK19	1.79774405
15	SIK2	1.78733954
16	TRIM28	1.63749851
17	PINK1	1.53662493
18	MAP2K6	1.52764910
19	TNK2	1.52745705
20	MAP4K1	1.50431741
21	WNK3	1.50373899
22	CAMKK2	1.47979933
23	NUAK1	1.41883972
24	TLK1	1.40031405
25	MAPKAPK3	1.37776141
26	FES	1.35679176
27	GRK6	1.33734881
28	ITK	1.33688065
29	PTK2B	1.26068500
30	PRKD2	1.23732345
31	MAP3K11	1.23690405
32	MAP2K2	1.17296764
33	IKBKB	1.15116522
34	MAPK7	1.14919734
35	PRKCH	1.14464971
36	SIK3	1.12230431
37	NME2	1.12006299
38	CAMKK1	1.11810737
39	CAMK1D	1.11586723
40	MUSK	1.03998773
41	KDR	1.02369370
42	KIT	1.01507002
43	TBK1	0.97293954
44	FLT3	0.93754986
45	PAK6	0.93718465
46	MARK1	0.93087584
47	PKN2	0.90813802
48	RPS6KA2	0.90476389
49	DAPK2	0.87186558
50	RPS6KA6	0.86669506
51	MATK	0.84678719
52	PIM2	0.81769692
53	CSNK1G3	0.81397051
54	TIE1	0.79441773
55	MARK3	0.77874227
56	TRIB3	0.70601180
57	PRKCG	0.70149214
58	NTRK2	0.69179847
59	NME1	0.68759835
60	CSNK1A1L	0.68645229
61	ZAP70	0.68606682
62	CAMK1	0.67483390
63	CHUK	0.65341259
64	ATR	0.64958500
65	CSF1R	0.64407871
66	MAPK11	0.63279552
67	MAP2K7	0.62371047
68	TESK1	0.61752535
69	PRKCZ	0.59569156
70	RPS6KC1	0.59201437
71	RPS6KL1	0.59201437
72	CSNK1G2	0.56880315
73	DYRK2	0.56214707
74	BMPR1B	0.56175746
75	ZAK	0.56120458
76	CDC42BPA	0.55766395
77	ADRBK1	0.54109208
78	LYN	0.51894931
79	VRK2	0.51194468
80	CDK4	0.50075301
81	WNK1	0.47990973
82	CSNK1A1	0.47130169
83	BCR	0.46996398
84	MAP3K7	0.46452593
85	MAP3K4	0.44932561
86	PRKAA1	0.44674457
87	PRKCE	0.43929812
88	PRKCI	0.43367077
89	IKBKE	0.43308520
90	BTK	0.43281086
91	RPS6KA5	0.43066501
92	SYK	0.42802321
93	CHEK2	0.41030810
94	ABL2	0.40539719
95	AURKA	0.40455196
96	ACVR1B	0.39995516
97	DAPK1	0.39263644
98	PKN1	0.38352316
99	CSNK1G1	0.37554633
100	DYRK1B	0.36341817

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.82813017
2	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.11411409
3	Phototransduction_Homo sapiens_hsa04744	2.95219905
4	Glycosaminoglycan degradation_Homo sapiens_hsa00531	2.72162841
5	Sulfur relay system_Homo sapiens_hsa04122	2.53085320
6	RNA polymerase_Homo sapiens_hsa03020	2.34316276
7	Primary immunodeficiency_Homo sapiens_hsa05340	2.27214576
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.18012834
9	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.12851788
10	Homologous recombination_Homo sapiens_hsa03440	2.00687413
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.86202053
12	Nicotine addiction_Homo sapiens_hsa05033	1.80986468
13	Lysosome_Homo sapiens_hsa04142	1.77791237
14	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.71294526
15	Regulation of autophagy_Homo sapiens_hsa04140	1.70650395
16	Butanoate metabolism_Homo sapiens_hsa00650	1.67437227
17	Caffeine metabolism_Homo sapiens_hsa00232	1.64687638
18	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.64096061
19	Taste transduction_Homo sapiens_hsa04742	1.62682140
20	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.62251852
21	Oxidative phosphorylation_Homo sapiens_hsa00190	1.61205721
22	Base excision repair_Homo sapiens_hsa03410	1.60707105
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.56823540
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.54408765
25	Basal transcription factors_Homo sapiens_hsa03022	1.48862194
26	Graft-versus-host disease_Homo sapiens_hsa05332	1.47774850
27	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.46976902
28	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.46112221
29	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.39194256
30	Pyrimidine metabolism_Homo sapiens_hsa00240	1.38887073
31	Olfactory transduction_Homo sapiens_hsa04740	1.38649346
32	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	1.29158023
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.28458026
34	Rheumatoid arthritis_Homo sapiens_hsa05323	1.27253825
35	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.22171143
36	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.20468726
37	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.17245326
38	Morphine addiction_Homo sapiens_hsa05032	1.15357682
39	Huntingtons disease_Homo sapiens_hsa05016	1.13550458
40	ABC transporters_Homo sapiens_hsa02010	1.12168376
41	Other glycan degradation_Homo sapiens_hsa00511	1.11080182
42	Peroxisome_Homo sapiens_hsa04146	1.10891187
43	Protein export_Homo sapiens_hsa03060	1.07969675
44	Parkinsons disease_Homo sapiens_hsa05012	1.07761139
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.04171399
46	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.02715979
47	Collecting duct acid secretion_Homo sapiens_hsa04966	1.00989848
48	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.94802674
49	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.94634102
50	Notch signaling pathway_Homo sapiens_hsa04330	0.94269681
51	Linoleic acid metabolism_Homo sapiens_hsa00591	0.93407370
52	RNA degradation_Homo sapiens_hsa03018	0.88601822
53	Allograft rejection_Homo sapiens_hsa05330	0.78017480
54	Purine metabolism_Homo sapiens_hsa00230	0.77252427
55	One carbon pool by folate_Homo sapiens_hsa00670	0.77031044
56	Type I diabetes mellitus_Homo sapiens_hsa04940	0.74070832
57	Tryptophan metabolism_Homo sapiens_hsa00380	0.73423638
58	beta-Alanine metabolism_Homo sapiens_hsa00410	0.72953461
59	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.71230817
60	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.70196895
61	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.69952573
62	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.69416371
63	GABAergic synapse_Homo sapiens_hsa04727	0.68902445
64	Sulfur metabolism_Homo sapiens_hsa00920	0.68120850
65	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.66680381
66	Cocaine addiction_Homo sapiens_hsa05030	0.64058345
67	Sphingolipid metabolism_Homo sapiens_hsa00600	0.62837133
68	Nucleotide excision repair_Homo sapiens_hsa03420	0.60238571
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.59782783
70	Metabolic pathways_Homo sapiens_hsa01100	0.55879798
71	Cardiac muscle contraction_Homo sapiens_hsa04260	0.55795904
72	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.54366080
73	Steroid biosynthesis_Homo sapiens_hsa00100	0.52590820
74	Calcium signaling pathway_Homo sapiens_hsa04020	0.48408623
75	Insulin secretion_Homo sapiens_hsa04911	0.48228976
76	Glutamatergic synapse_Homo sapiens_hsa04724	0.48209559
77	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.45355523
78	Cholinergic synapse_Homo sapiens_hsa04725	0.44621310
79	Dopaminergic synapse_Homo sapiens_hsa04728	0.44558661
80	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.44241042
81	Alzheimers disease_Homo sapiens_hsa05010	0.40781537
82	Fatty acid elongation_Homo sapiens_hsa00062	0.40413977
83	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.40365898
84	Circadian entrainment_Homo sapiens_hsa04713	0.38078720
85	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.37300123
86	Lysine degradation_Homo sapiens_hsa00310	0.36511788
87	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.35466638
88	Circadian rhythm_Homo sapiens_hsa04710	0.35120168
89	TNF signaling pathway_Homo sapiens_hsa04668	0.34995760
90	Antigen processing and presentation_Homo sapiens_hsa04612	0.34544883
91	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.34435006
92	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.33874182
93	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.31893732
94	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.31767327
95	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.30437736
96	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.30259213
97	Chemical carcinogenesis_Homo sapiens_hsa05204	0.29395052
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.29332928
99	Malaria_Homo sapiens_hsa05144	0.29244886
100	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.29184543

ZNF497

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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