ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.75761502
2	DNA deamination (GO:0045006)	5.53702740
3	response to pheromone (GO:0019236)	4.61895065
4	cytidine metabolic process (GO:0046087)	4.44079584
5	cytidine catabolic process (GO:0006216)	4.44079584
6	cytidine deamination (GO:0009972)	4.44079584
7	L-fucose catabolic process (GO:0042355)	4.09768354
8	fucose catabolic process (GO:0019317)	4.09768354
9	L-fucose metabolic process (GO:0042354)	4.09768354
10	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.93151979
11	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.84110688
12	platelet dense granule organization (GO:0060155)	3.69906678
13	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.48687564
14	indolalkylamine metabolic process (GO:0006586)	3.47697839
15	water-soluble vitamin biosynthetic process (GO:0042364)	3.41406598
16	cellular ketone body metabolic process (GO:0046950)	3.38255174
17	negative regulation of telomere maintenance (GO:0032205)	3.30053712
18	protein complex biogenesis (GO:0070271)	3.27599181
19	protein neddylation (GO:0045116)	3.24585688
20	piRNA metabolic process (GO:0034587)	3.23031494
21	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.22638915
22	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.22404581
23	ATP synthesis coupled proton transport (GO:0015986)	3.22404581
24	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.18848167
25	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.18848167
26	NADH dehydrogenase complex assembly (GO:0010257)	3.18848167
27	indolalkylamine catabolic process (GO:0046218)	3.18480678
28	tryptophan catabolic process (GO:0006569)	3.18480678
29	indole-containing compound catabolic process (GO:0042436)	3.18480678
30	kynurenine metabolic process (GO:0070189)	3.16351796
31	respiratory chain complex IV assembly (GO:0008535)	3.10469685
32	cornea development in camera-type eye (GO:0061303)	3.09585017
33	detection of light stimulus involved in visual perception (GO:0050908)	3.05395192
34	detection of light stimulus involved in sensory perception (GO:0050962)	3.05395192
35	ketone body metabolic process (GO:1902224)	3.04778699
36	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.98155313
37	mitochondrial respiratory chain complex assembly (GO:0033108)	2.97377860
38	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.94711618
39	epithelial cilium movement (GO:0003351)	2.93909668
40	axoneme assembly (GO:0035082)	2.92538606
41	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.91345649
42	adaptation of signaling pathway (GO:0023058)	2.90702077
43	ubiquinone biosynthetic process (GO:0006744)	2.90360292
44	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.90232003
45	nonmotile primary cilium assembly (GO:0035058)	2.87800471
46	cytochrome complex assembly (GO:0017004)	2.87139067
47	sulfation (GO:0051923)	2.84176969
48	protein-cofactor linkage (GO:0018065)	2.82425954
49	tryptophan metabolic process (GO:0006568)	2.81797158
50	preassembly of GPI anchor in ER membrane (GO:0016254)	2.81499158
51	behavioral response to ethanol (GO:0048149)	2.79654658
52	protein polyglutamylation (GO:0018095)	2.75942265
53	negative regulation of mast cell activation (GO:0033004)	2.75212172
54	somite development (GO:0061053)	2.74415106
55	indole-containing compound metabolic process (GO:0042430)	2.74112231
56	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.71647863
57	ubiquinone metabolic process (GO:0006743)	2.70420077
58	neuronal action potential (GO:0019228)	2.70192986
59	synaptic transmission, cholinergic (GO:0007271)	2.68050989
60	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.65947483
61	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.65947483
62	S-adenosylmethionine metabolic process (GO:0046500)	2.65780827
63	kidney morphogenesis (GO:0060993)	2.63772471
64	male meiosis I (GO:0007141)	2.63730853
65	rhodopsin mediated signaling pathway (GO:0016056)	2.63352088
66	cilium morphogenesis (GO:0060271)	2.63225621
67	primary amino compound metabolic process (GO:1901160)	2.61024112
68	regulation of hexokinase activity (GO:1903299)	2.58723314
69	regulation of glucokinase activity (GO:0033131)	2.58723314
70	mannosylation (GO:0097502)	2.57501995
71	positive regulation of fatty acid transport (GO:2000193)	2.55880755
72	regulation of cilium movement (GO:0003352)	2.55555189
73	photoreceptor cell development (GO:0042461)	2.55072305
74	regulation of action potential (GO:0098900)	2.53451347
75	nephron epithelium morphogenesis (GO:0072088)	2.53224134
76	nephron tubule morphogenesis (GO:0072078)	2.53224134
77	DNA methylation involved in gamete generation (GO:0043046)	2.50993849
78	dopamine transport (GO:0015872)	2.50944204
79	electron transport chain (GO:0022900)	2.48537405
80	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.48040484
81	parturition (GO:0007567)	2.47856337
82	gamma-aminobutyric acid transport (GO:0015812)	2.46987241
83	GPI anchor metabolic process (GO:0006505)	2.45962360
84	positive regulation of defense response to virus by host (GO:0002230)	2.45676657
85	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.45373318
86	serotonin metabolic process (GO:0042428)	2.43890239
87	multicellular organism reproduction (GO:0032504)	2.43283866
88	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.40232206
89	respiratory electron transport chain (GO:0022904)	2.39970906
90	negative regulation by host of viral transcription (GO:0043922)	2.39832405
91	pyrimidine nucleobase catabolic process (GO:0006208)	2.39826790
92	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.39213745
93	cellular response to ATP (GO:0071318)	2.38656151
94	transmission of nerve impulse (GO:0019226)	2.38388284
95	cilium movement (GO:0003341)	2.37325517
96	DNA demethylation (GO:0080111)	2.36035109
97	phosphatidylcholine acyl-chain remodeling (GO:0036151)	2.33973025
98	photoreceptor cell maintenance (GO:0045494)	2.33167941
99	auditory receptor cell stereocilium organization (GO:0060088)	2.32640500
100	reflex (GO:0060004)	2.31591852

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.79115120
2	VDR_22108803_ChIP-Seq_LS180_Human	3.52152897
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.16616934
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.75633673
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.70673563
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.40787167
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.36466357
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.26740530
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.17145688
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.06524846
11	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.06012940
12	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.04621538
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.04396221
14	TAF15_26573619_Chip-Seq_HEK293_Human	1.89828780
15	FUS_26573619_Chip-Seq_HEK293_Human	1.88758664
16	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.87778826
17	P300_19829295_ChIP-Seq_ESCs_Human	1.87146614
18	EWS_26573619_Chip-Seq_HEK293_Human	1.87027042
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.85547138
20	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.83890646
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.83326188
22	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.78102207
23	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.74084839
24	TP53_22573176_ChIP-Seq_HFKS_Human	1.70996527
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.68883629
26	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.66242595
27	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.65122299
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.61784302
29	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.60005904
30	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.54220598
31	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.47288658
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.46249279
33	REST_21632747_ChIP-Seq_MESCs_Mouse	1.45719088
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.44525554
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.44525554
36	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.40920027
37	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.40631868
38	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.40631868
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.39847704
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.38466558
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.38443823
42	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.37941073
43	NANOG_19829295_ChIP-Seq_ESCs_Human	1.37783588
44	SOX2_19829295_ChIP-Seq_ESCs_Human	1.37783588
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37215159
46	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.36917993
47	* GATA3_21878914_ChIP-Seq_MCF-7_Human	1.30061720
48	AR_25329375_ChIP-Seq_VCAP_Human	1.28315341
49	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.28056121
50	NCOR_22424771_ChIP-Seq_293T_Human	1.28014381
51	STAT3_23295773_ChIP-Seq_U87_Human	1.27705927
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.26785429
53	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.24835478
54	TCF4_23295773_ChIP-Seq_U87_Human	1.24743187
55	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.24326631
56	TCF4_22108803_ChIP-Seq_LS180_Human	1.24222469
57	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.23172733
58	AR_20517297_ChIP-Seq_VCAP_Human	1.21683795
59	RNF2_27304074_Chip-Seq_NSC_Mouse	1.20990429
60	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.20761441
61	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.20691811
62	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.20515528
63	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.19367982
64	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.18462255
65	HOXB7_26014856_ChIP-Seq_BT474_Human	1.17031676
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.16440127
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.15519519
68	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.14945513
69	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.14149815
70	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.13528653
71	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.13494671
72	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.12957074
73	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.12943313
74	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.12682182
75	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.12149679
76	VDR_23849224_ChIP-Seq_CD4+_Human	1.11812761
77	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.11244791
78	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.10866320
79	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.10361495
80	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.08914781
81	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.08914781
82	TAF2_19829295_ChIP-Seq_ESCs_Human	1.08677520
83	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.08626789
84	* PRDM14_20953172_ChIP-Seq_ESCs_Human	1.06855979
85	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.06710458
86	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.06682747
87	MYC_19829295_ChIP-Seq_ESCs_Human	1.06625905
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.06371077
89	* CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.05391602
90	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04929268
91	HTT_18923047_ChIP-ChIP_STHdh_Human	1.04834529
92	* ERA_21632823_ChIP-Seq_H3396_Human	1.04546967
93	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.03977591
94	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.01910816
95	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.99229464
96	* NANOG_20526341_ChIP-Seq_ESCs_Human	0.99034141
97	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.97716318
98	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.97473518
99	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.97430138
100	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.97324726

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	2.74698734
2	MP0003195_calcinosis	2.74296834
3	MP0005551_abnormal_eye_electrophysiolog	2.57012544
4	MP0003011_delayed_dark_adaptation	2.47936985
5	MP0001968_abnormal_touch/_nociception	2.41210893
6	MP0008877_abnormal_DNA_methylation	2.25292640
7	MP0002653_abnormal_ependyma_morphology	2.20921744
8	MP0005646_abnormal_pituitary_gland	2.14924139
9	MP0002837_dystrophic_cardiac_calcinosis	2.12241365
10	MP0006072_abnormal_retinal_apoptosis	2.11680433
11	MP0003136_yellow_coat_color	2.08303401
12	MP0002876_abnormal_thyroid_physiology	2.05779521
13	MP0003646_muscle_fatigue	2.02844610
14	MP0002736_abnormal_nociception_after	1.99448641
15	MP0009745_abnormal_behavioral_response	1.97645042
16	MP0005645_abnormal_hypothalamus_physiol	1.97119058
17	MP0008875_abnormal_xenobiotic_pharmacok	1.96251644
18	MP0008872_abnormal_physiological_respon	1.94956593
19	MP0001986_abnormal_taste_sensitivity	1.94394209
20	MP0004147_increased_porphyrin_level	1.92374482
21	MP0004885_abnormal_endolymph	1.90056044
22	MP0006292_abnormal_olfactory_placode	1.85276194
23	MP0001984_abnormal_olfaction	1.82889616
24	MP0005253_abnormal_eye_physiology	1.78498422
25	MP0000372_irregular_coat_pigmentation	1.74716772
26	MP0003880_abnormal_central_pattern	1.69621052
27	MP0009046_muscle_twitch	1.68944620
28	MP0002272_abnormal_nervous_system	1.67304059
29	MP0002638_abnormal_pupillary_reflex	1.63575259
30	MP0004145_abnormal_muscle_electrophysio	1.61966550
31	MP0005671_abnormal_response_to	1.61520824
32	MP0003787_abnormal_imprinting	1.60843440
33	MP0000569_abnormal_digit_pigmentation	1.59454779
34	MP0002735_abnormal_chemical_nociception	1.58759301
35	MP0006276_abnormal_autonomic_nervous	1.58255665
36	MP0004142_abnormal_muscle_tone	1.54761000
37	MP0005174_abnormal_tail_pigmentation	1.50684854
38	MP0001529_abnormal_vocalization	1.50152039
39	MP0001486_abnormal_startle_reflex	1.49608135
40	MP0004133_heterotaxia	1.49556766
41	MP0000631_abnormal_neuroendocrine_gland	1.48683653
42	MP0001501_abnormal_sleep_pattern	1.47237061
43	MP0002938_white_spotting	1.45445195
44	MP0002160_abnormal_reproductive_system	1.44221681
45	MP0005389_reproductive_system_phenotype	1.41740226
46	MP0004043_abnormal_pH_regulation	1.41161914
47	MP0001485_abnormal_pinna_reflex	1.38749943
48	MP0005084_abnormal_gallbladder_morpholo	1.34419669
49	MP0002064_seizures	1.33912436
50	MP0001970_abnormal_pain_threshold	1.32889086
51	MP0002733_abnormal_thermal_nociception	1.32425569
52	MP0001919_abnormal_reproductive_system	1.29351818
53	MP0001905_abnormal_dopamine_level	1.27739750
54	MP0002572_abnormal_emotion/affect_behav	1.26118634
55	MP0002277_abnormal_respiratory_mucosa	1.26046285
56	MP0000427_abnormal_hair_cycle	1.19753282
57	MP0003283_abnormal_digestive_organ	1.18791844
58	MP0005386_behavior/neurological_phenoty	1.18161697
59	MP0004924_abnormal_behavior	1.18161697
60	MP0002138_abnormal_hepatobiliary_system	1.17103589
61	MP0002557_abnormal_social/conspecific_i	1.16711473
62	MP0002163_abnormal_gland_morphology	1.14101586
63	MP0004742_abnormal_vestibular_system	1.09821495
64	MP0005423_abnormal_somatic_nervous	1.09226809
65	MP0002234_abnormal_pharynx_morphology	1.09186902
66	MP0003635_abnormal_synaptic_transmissio	1.07608280
67	MP0005379_endocrine/exocrine_gland_phen	1.05944923
68	MP0005195_abnormal_posterior_eye	1.04505200
69	MP0002928_abnormal_bile_duct	1.04020934
70	MP0001188_hyperpigmentation	1.02839465
71	MP0002063_abnormal_learning/memory/cond	1.02140435
72	MP0005377_hearing/vestibular/ear_phenot	1.00975946
73	MP0003878_abnormal_ear_physiology	1.00975946
74	MP0005075_abnormal_melanosome_morpholog	1.00014648
75	MP0010386_abnormal_urinary_bladder	0.99565905
76	MP0002067_abnormal_sensory_capabilities	0.98680685
77	MP0005410_abnormal_fertilization	0.96178306
78	MP0002734_abnormal_mechanical_nocicepti	0.95423178
79	MP0002095_abnormal_skin_pigmentation	0.94155107
80	MP0002693_abnormal_pancreas_physiology	0.92729130
81	MP0003137_abnormal_impulse_conducting	0.90873720
82	MP0002752_abnormal_somatic_nervous	0.90471922
83	MP0003567_abnormal_fetal_cardiomyocyte	0.84753286
84	MP0001502_abnormal_circadian_rhythm	0.84588080
85	MP0002751_abnormal_autonomic_nervous	0.83146023
86	MP0000230_abnormal_systemic_arterial	0.81250507
87	MP0000026_abnormal_inner_ear	0.79919086
88	MP0002909_abnormal_adrenal_gland	0.78441302
89	MP0001440_abnormal_grooming_behavior	0.77834113
90	MP0002229_neurodegeneration	0.77099570
91	MP0008775_abnormal_heart_ventricle	0.76706162
92	MP0002184_abnormal_innervation	0.76665954
93	MP0001293_anophthalmia	0.76413544
94	MP0008995_early_reproductive_senescence	0.76009186
95	MP0001324_abnormal_eye_pigmentation	0.74572036
96	MP0008789_abnormal_olfactory_epithelium	0.73852544
97	MP0001963_abnormal_hearing_physiology	0.73780788
98	MP0003698_abnormal_male_reproductive	0.72179966
99	MP0000647_abnormal_sebaceous_gland	0.71929537
100	MP0000383_abnormal_hair_follicle	0.69307750

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.47398344
2	Molar tooth sign on MRI (HP:0002419)	4.38765163
3	Abnormality of midbrain morphology (HP:0002418)	4.38765163
4	Pancreatic fibrosis (HP:0100732)	4.17634777
5	Congenital stationary night blindness (HP:0007642)	4.00096543
6	True hermaphroditism (HP:0010459)	3.96548178
7	Nephronophthisis (HP:0000090)	3.41526517
8	Type II lissencephaly (HP:0007260)	3.19501563
9	Abnormality of the renal cortex (HP:0011035)	3.17034875
10	Attenuation of retinal blood vessels (HP:0007843)	3.10159862
11	Chronic hepatic failure (HP:0100626)	3.05086300
12	Pendular nystagmus (HP:0012043)	2.95627809
13	Abnormality of the renal medulla (HP:0100957)	2.93259196
14	Abolished electroretinogram (ERG) (HP:0000550)	2.91800146
15	Cystic liver disease (HP:0006706)	2.79940207
16	Medial flaring of the eyebrow (HP:0010747)	2.77439872
17	Decreased central vision (HP:0007663)	2.77369052
18	Mitochondrial inheritance (HP:0001427)	2.64010029
19	Hyperventilation (HP:0002883)	2.63086606
20	Acute necrotizing encephalopathy (HP:0006965)	2.61695352
21	Abnormal rod and cone electroretinograms (HP:0008323)	2.60049583
22	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.57632780
23	Large for gestational age (HP:0001520)	2.57548570
24	Polydipsia (HP:0001959)	2.51692867
25	Abnormal drinking behavior (HP:0030082)	2.51692867
26	Keratoconus (HP:0000563)	2.47332224
27	Increased corneal curvature (HP:0100692)	2.47332224
28	Renal cortical cysts (HP:0000803)	2.46844005
29	Increased CSF lactate (HP:0002490)	2.46483823
30	Sclerocornea (HP:0000647)	2.45053196
31	Congenital, generalized hypertrichosis (HP:0004540)	2.35020718
32	3-Methylglutaconic aciduria (HP:0003535)	2.34534000
33	Tubular atrophy (HP:0000092)	2.33511700
34	Progressive macrocephaly (HP:0004481)	2.33406050
35	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.29310633
36	Abnormal respiratory epithelium morphology (HP:0012253)	2.27075818
37	Abnormal respiratory motile cilium morphology (HP:0005938)	2.27075818
38	Abnormality of alanine metabolism (HP:0010916)	2.23442208
39	Hyperalaninemia (HP:0003348)	2.23442208
40	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.23442208
41	Abnormal mitochondria in muscle tissue (HP:0008316)	2.22742000
42	Congenital hepatic fibrosis (HP:0002612)	2.21129665
43	Absent/shortened dynein arms (HP:0200106)	2.20775989
44	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.20775989
45	Acute encephalopathy (HP:0006846)	2.20644578
46	Gait imbalance (HP:0002141)	2.19490693
47	Inability to walk (HP:0002540)	2.18725726
48	Optic disc pallor (HP:0000543)	2.17371237
49	Bile duct proliferation (HP:0001408)	2.16277562
50	Abnormal biliary tract physiology (HP:0012439)	2.16277562
51	Anencephaly (HP:0002323)	2.15095288
52	Hepatocellular necrosis (HP:0001404)	2.12573930
53	Lipid accumulation in hepatocytes (HP:0006561)	2.11698238
54	Congenital primary aphakia (HP:0007707)	2.11692943
55	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.10202002
56	Cerebellar dysplasia (HP:0007033)	2.09576063
57	Polyuria (HP:0000103)	2.08832687
58	Lissencephaly (HP:0001339)	2.07250496
59	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.05690894
60	Methylmalonic acidemia (HP:0002912)	2.05535457
61	Nephrogenic diabetes insipidus (HP:0009806)	2.03084275
62	Male pseudohermaphroditism (HP:0000037)	2.01520327
63	Furrowed tongue (HP:0000221)	2.01502571
64	Methylmalonic aciduria (HP:0012120)	2.00808339
65	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.00804343
66	Retinal dysplasia (HP:0007973)	2.00062674
67	Increased hepatocellular lipid droplets (HP:0006565)	1.99596100
68	Hepatic necrosis (HP:0002605)	1.97260010
69	Hypothermia (HP:0002045)	1.97046059
70	Concave nail (HP:0001598)	1.95635910
71	Optic nerve hypoplasia (HP:0000609)	1.95560435
72	Progressive cerebellar ataxia (HP:0002073)	1.94289608
73	Rib fusion (HP:0000902)	1.92240164
74	Asplenia (HP:0001746)	1.89890394
75	Postaxial foot polydactyly (HP:0001830)	1.89467380
76	Abnormality of the pons (HP:0007361)	1.89203261
77	Ketosis (HP:0001946)	1.88814596
78	Broad-based gait (HP:0002136)	1.88017883
79	Hypoproteinemia (HP:0003075)	1.87641830
80	Hypoalbuminemia (HP:0003073)	1.87464790
81	Abnormal albumin level (HP:0012116)	1.87464790
82	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.86238923
83	Stomach cancer (HP:0012126)	1.86222764
84	Decreased circulating renin level (HP:0003351)	1.85732056
85	Progressive inability to walk (HP:0002505)	1.84781835
86	Genital tract atresia (HP:0001827)	1.84255278
87	Gaze-evoked nystagmus (HP:0000640)	1.83792756
88	Patellar aplasia (HP:0006443)	1.83095418
89	Hypoplasia of the pons (HP:0012110)	1.82765292
90	IgG deficiency (HP:0004315)	1.82560455
91	Aplasia/Hypoplasia of the patella (HP:0006498)	1.81395745
92	Thyroiditis (HP:0100646)	1.79573504
93	Protruding tongue (HP:0010808)	1.79028099
94	Pachygyria (HP:0001302)	1.78141985
95	Ketoacidosis (HP:0001993)	1.78032134
96	Abnormal ciliary motility (HP:0012262)	1.78006999
97	Severe muscular hypotonia (HP:0006829)	1.77737575
98	Vaginal atresia (HP:0000148)	1.77376358
99	Focal motor seizures (HP:0011153)	1.77064251
100	Chorioretinal atrophy (HP:0000533)	1.76688359

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.45023900
2	BMPR1B	3.47166611
3	ADRBK2	3.32877650
4	TXK	2.95923664
5	ZAK	2.95714691
6	WNK4	2.61519931
7	MAP4K2	2.59033091
8	PINK1	2.51871757
9	GRK1	2.50352575
10	TLK1	2.32816219
11	WNK3	2.26921819
12	TAOK3	2.26263245
13	CASK	2.05567650
14	ACVR1B	1.93486997
15	INSRR	1.91191923
16	MAPK13	1.82752823
17	NUAK1	1.73671930
18	BCKDK	1.73064394
19	DAPK2	1.72701225
20	MUSK	1.54489325
21	MAP3K4	1.50675776
22	CAMKK2	1.46277756
23	OXSR1	1.30618681
24	STK39	1.28251749
25	DYRK2	1.21481191
26	TNIK	1.20020976
27	ADRBK1	1.17090048
28	TIE1	1.16414036
29	STK16	1.09434283
30	VRK1	1.08190645
31	PAK3	1.02756936
32	MARK1	0.98724707
33	MAPK15	0.97256354
34	MAP2K7	0.95786588
35	KDR	0.94278749
36	MAP2K6	0.88225278
37	TGFBR1	0.88219371
38	PRKCG	0.88209347
39	PIK3CA	0.88089310
40	PRKCE	0.86338719
41	ITK	0.84891272
42	PLK2	0.84730160
43	TRIM28	0.83540226
44	MAPKAPK3	0.82503077
45	PRKCQ	0.80609176
46	EPHA4	0.79425107
47	GRK7	0.79078210
48	TEC	0.78380125
49	CSNK1G2	0.78165546
50	NTRK3	0.78071831
51	PHKG1	0.75650628
52	PHKG2	0.75650628
53	CSNK1G1	0.75213027
54	KIT	0.74569151
55	AKT3	0.74463782
56	PNCK	0.71942249
57	CSNK1G3	0.69201155
58	CAMK2A	0.67378483
59	VRK2	0.66415450
60	MST4	0.66121635
61	OBSCN	0.65512727
62	MKNK2	0.65165498
63	IKBKB	0.63336983
64	RPS6KA5	0.60785339
65	NME1	0.59923150
66	FGFR2	0.57840741
67	PRKACA	0.57413249
68	NTRK2	0.57075418
69	PTK2B	0.56352934
70	CAMK1	0.55273103
71	PKN1	0.54502260
72	TAF1	0.51286616
73	SYK	0.50482179
74	CSNK1A1L	0.49622394
75	TNK2	0.49449371
76	BRSK2	0.48215481
77	CSNK1A1	0.46655207
78	NLK	0.46654234
79	STK38L	0.45521596
80	PRKCA	0.45183029
81	MAPKAPK5	0.44867126
82	PRKCI	0.44674792
83	CAMKK1	0.44639541
84	ERBB3	0.44549235
85	PLK3	0.43833246
86	LCK	0.38006802
87	IRAK4	0.37975967
88	EPHA3	0.36017472
89	STK11	0.35633387
90	BCR	0.35631016
91	PLK4	0.35600656
92	FLT3	0.35353219
93	PRKCZ	0.35135317
94	WEE1	0.33658350
95	IRAK1	0.33057178
96	IGF1R	0.32285491
97	GRK5	0.31994811
98	CSNK1D	0.30035699
99	LYN	0.30004005
100	PRKCH	0.29862211

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.05011080
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.84972038
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.80078104
4	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.73265677
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.30827297
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.28657904
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.24170073
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.19863469
9	Parkinsons disease_Homo sapiens_hsa05012	2.14970727
10	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.14460035
11	Butanoate metabolism_Homo sapiens_hsa00650	2.07491891
12	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.04828475
13	Protein export_Homo sapiens_hsa03060	2.00728273
14	Selenocompound metabolism_Homo sapiens_hsa00450	1.92998463
15	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.90729421
16	Nicotine addiction_Homo sapiens_hsa05033	1.90619977
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.90610217
18	Ether lipid metabolism_Homo sapiens_hsa00565	1.87641152
19	Primary immunodeficiency_Homo sapiens_hsa05340	1.86146967
20	Caffeine metabolism_Homo sapiens_hsa00232	1.85133131
21	RNA polymerase_Homo sapiens_hsa03020	1.80135778
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.70534610
23	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.64049875
24	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.62474031
25	Homologous recombination_Homo sapiens_hsa03440	1.53083866
26	Alzheimers disease_Homo sapiens_hsa05010	1.39679282
27	Cardiac muscle contraction_Homo sapiens_hsa04260	1.37418086
28	Huntingtons disease_Homo sapiens_hsa05016	1.35617984
29	Sulfur relay system_Homo sapiens_hsa04122	1.33148282
30	Proteasome_Homo sapiens_hsa03050	1.30598542
31	Taste transduction_Homo sapiens_hsa04742	1.26092407
32	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.21844004
33	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.21761261
34	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.20868191
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.20671405
36	Olfactory transduction_Homo sapiens_hsa04740	1.15682434
37	Basal transcription factors_Homo sapiens_hsa03022	1.15195148
38	Peroxisome_Homo sapiens_hsa04146	1.13213767
39	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.11391576
40	Propanoate metabolism_Homo sapiens_hsa00640	1.09594312
41	One carbon pool by folate_Homo sapiens_hsa00670	1.08800503
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.07411870
43	Morphine addiction_Homo sapiens_hsa05032	1.07335550
44	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.06497526
45	RNA degradation_Homo sapiens_hsa03018	1.05931108
46	Ribosome_Homo sapiens_hsa03010	1.05103536
47	Chemical carcinogenesis_Homo sapiens_hsa05204	1.03182935
48	Retinol metabolism_Homo sapiens_hsa00830	1.01665904
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00477279
50	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.98778944
51	Type I diabetes mellitus_Homo sapiens_hsa04940	0.96717093
52	Graft-versus-host disease_Homo sapiens_hsa05332	0.95297710
53	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.94685011
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.91290475
55	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.86160913
56	ABC transporters_Homo sapiens_hsa02010	0.84592273
57	Insulin secretion_Homo sapiens_hsa04911	0.83895927
58	Collecting duct acid secretion_Homo sapiens_hsa04966	0.82991793
59	Regulation of autophagy_Homo sapiens_hsa04140	0.81585968
60	Serotonergic synapse_Homo sapiens_hsa04726	0.80346858
61	GABAergic synapse_Homo sapiens_hsa04727	0.79778386
62	Asthma_Homo sapiens_hsa05310	0.78668069
63	Allograft rejection_Homo sapiens_hsa05330	0.77979765
64	Glutamatergic synapse_Homo sapiens_hsa04724	0.77356747
65	Circadian entrainment_Homo sapiens_hsa04713	0.74784290
66	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.73517848
67	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.73022140
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.70517105
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.66884525
70	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.66801428
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.66444960
72	Purine metabolism_Homo sapiens_hsa00230	0.65126087
73	Rheumatoid arthritis_Homo sapiens_hsa05323	0.65112898
74	Sulfur metabolism_Homo sapiens_hsa00920	0.63874617
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62121905
76	Metabolic pathways_Homo sapiens_hsa01100	0.59310101
77	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.58612722
78	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.58196009
79	Antigen processing and presentation_Homo sapiens_hsa04612	0.57256036
80	beta-Alanine metabolism_Homo sapiens_hsa00410	0.57148788
81	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.56664353
82	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.55899778
83	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.55154346
84	Calcium signaling pathway_Homo sapiens_hsa04020	0.54971489
85	Salivary secretion_Homo sapiens_hsa04970	0.54719740
86	Pyrimidine metabolism_Homo sapiens_hsa00240	0.53155526
87	Glycerolipid metabolism_Homo sapiens_hsa00561	0.52961515
88	Mineral absorption_Homo sapiens_hsa04978	0.48581541
89	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.48346008
90	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.48100200
91	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.47823580
92	Histidine metabolism_Homo sapiens_hsa00340	0.42044819
93	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37564679
94	Dopaminergic synapse_Homo sapiens_hsa04728	0.37295542
95	Fatty acid degradation_Homo sapiens_hsa00071	0.36315476
96	Amphetamine addiction_Homo sapiens_hsa05031	0.33498752
97	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.33487499
98	Steroid biosynthesis_Homo sapiens_hsa00100	0.31865506
99	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.29976524
100	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.29086149

ZNF843

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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