ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.82829851
2	fucose catabolic process (GO:0019317)	4.22488857
3	L-fucose metabolic process (GO:0042354)	4.22488857
4	L-fucose catabolic process (GO:0042355)	4.22488857
5	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.56632605
6	indolalkylamine metabolic process (GO:0006586)	3.55373108
7	tryptophan catabolic process (GO:0006569)	3.45306617
8	indole-containing compound catabolic process (GO:0042436)	3.45306617
9	indolalkylamine catabolic process (GO:0046218)	3.45306617
10	kynurenine metabolic process (GO:0070189)	3.45101021
11	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.44086934
12	neural tube formation (GO:0001841)	3.43953031
13	piRNA metabolic process (GO:0034587)	3.36460573
14	response to pheromone (GO:0019236)	3.33220305
15	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.25084555
16	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.24660304
17	DNA deamination (GO:0045006)	3.22916361
18	detection of light stimulus involved in sensory perception (GO:0050962)	3.21438013
19	detection of light stimulus involved in visual perception (GO:0050908)	3.21438013
20	negative regulation of telomere maintenance (GO:0032205)	3.19728101
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.17412840
22	protein complex biogenesis (GO:0070271)	3.13513169
23	kidney morphogenesis (GO:0060993)	3.13133025
24	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.12809078
25	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.12809078
26	regulation of translation, ncRNA-mediated (GO:0045974)	3.12809078
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.11782787
28	NADH dehydrogenase complex assembly (GO:0010257)	3.11782787
29	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.11782787
30	replication fork processing (GO:0031297)	3.06809241
31	DNA double-strand break processing (GO:0000729)	3.06501883
32	epithelial cilium movement (GO:0003351)	2.98974456
33	mitochondrial respiratory chain complex assembly (GO:0033108)	2.98137802
34	protein localization to cilium (GO:0061512)	2.96856117
35	synapsis (GO:0007129)	2.95507806
36	reciprocal DNA recombination (GO:0035825)	2.95487120
37	reciprocal meiotic recombination (GO:0007131)	2.95487120
38	rRNA catabolic process (GO:0016075)	2.93825903
39	tryptophan metabolic process (GO:0006568)	2.90688903
40	regulation of action potential (GO:0098900)	2.90318276
41	regulation of meiosis I (GO:0060631)	2.87432417
42	platelet dense granule organization (GO:0060155)	2.86465513
43	oxidative demethylation (GO:0070989)	2.84459879
44	nonmotile primary cilium assembly (GO:0035058)	2.84212412
45	recombinational repair (GO:0000725)	2.83505392
46	double-strand break repair via homologous recombination (GO:0000724)	2.82919248
47	protein-cofactor linkage (GO:0018065)	2.82437051
48	negative regulation of mast cell activation (GO:0033004)	2.82287812
49	cellular ketone body metabolic process (GO:0046950)	2.77948962
50	somite development (GO:0061053)	2.77199960
51	respiratory chain complex IV assembly (GO:0008535)	2.74614666
52	regulation of telomere maintenance (GO:0032204)	2.73145469
53	cilium morphogenesis (GO:0060271)	2.71630932
54	gamma-aminobutyric acid transport (GO:0015812)	2.71201662
55	indole-containing compound metabolic process (GO:0042430)	2.70865158
56	primary amino compound metabolic process (GO:1901160)	2.70696247
57	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.68090226
58	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.67509821
59	retinal cone cell development (GO:0046549)	2.66922419
60	protein polyglutamylation (GO:0018095)	2.66048184
61	sulfation (GO:0051923)	2.65426833
62	protein K11-linked deubiquitination (GO:0035871)	2.62832661
63	DNA methylation involved in gamete generation (GO:0043046)	2.62699610
64	cilium organization (GO:0044782)	2.62653804
65	centriole replication (GO:0007099)	2.58757279
66	protein K6-linked ubiquitination (GO:0085020)	2.58398870
67	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.58095235
68	neuronal action potential (GO:0019228)	2.57560026
69	axoneme assembly (GO:0035082)	2.57326632
70	somite rostral/caudal axis specification (GO:0032525)	2.57216780
71	cilium assembly (GO:0042384)	2.54768869
72	synaptic transmission, cholinergic (GO:0007271)	2.54212144
73	parturition (GO:0007567)	2.54065247
74	ketone body metabolic process (GO:1902224)	2.52898043
75	resolution of meiotic recombination intermediates (GO:0000712)	2.52218813
76	regulation of hippo signaling (GO:0035330)	2.51776092
77	pyrimidine nucleobase catabolic process (GO:0006208)	2.51675784
78	protein import into peroxisome matrix (GO:0016558)	2.51320267
79	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.51019937
80	photoreceptor cell maintenance (GO:0045494)	2.50905841
81	spinal cord motor neuron differentiation (GO:0021522)	2.47633022
82	prenylation (GO:0097354)	2.45977884
83	protein prenylation (GO:0018342)	2.45977884
84	preassembly of GPI anchor in ER membrane (GO:0016254)	2.45390290
85	reflex (GO:0060004)	2.45279801
86	dopamine transport (GO:0015872)	2.44500213
87	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.44407608
88	regulation of mitotic spindle checkpoint (GO:1903504)	2.44407608
89	regulation of DNA endoreduplication (GO:0032875)	2.44038888
90	adaptation of signaling pathway (GO:0023058)	2.43900944
91	regulation of cilium movement (GO:0003352)	2.43755451
92	behavioral response to ethanol (GO:0048149)	2.43669712
93	pseudouridine synthesis (GO:0001522)	2.43209624
94	male meiosis (GO:0007140)	2.42921810
95	rhodopsin mediated signaling pathway (GO:0016056)	2.42479625
96	regulation of gene silencing by RNA (GO:0060966)	2.42191158
97	regulation of posttranscriptional gene silencing (GO:0060147)	2.42191158
98	regulation of gene silencing by miRNA (GO:0060964)	2.42191158
99	transmission of nerve impulse (GO:0019226)	2.42025792
100	nephron tubule morphogenesis (GO:0072078)	2.41740475

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.86685372
2	VDR_22108803_ChIP-Seq_LS180_Human	3.37692173
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.03203059
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.80881259
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.63934336
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.63875200
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.42439255
8	EWS_26573619_Chip-Seq_HEK293_Human	2.40446694
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.36446022
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.31570628
11	FUS_26573619_Chip-Seq_HEK293_Human	2.31259347
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.22661182
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.21219607
14	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.20501739
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.18081417
16	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.16722593
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.15320948
18	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.12839763
19	P300_19829295_ChIP-Seq_ESCs_Human	2.04434256
20	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.95464166
21	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.81952487
22	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.77073658
23	IRF1_19129219_ChIP-ChIP_H3396_Human	1.77054880
24	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.74335799
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.74068253
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.71349982
27	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.65983828
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.62273592
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61246745
30	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.60249343
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.59735704
32	MYC_18940864_ChIP-ChIP_HL60_Human	1.58820858
33	BCAT_22108803_ChIP-Seq_LS180_Human	1.56670399
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.56183817
35	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.55795253
36	CBP_20019798_ChIP-Seq_JUKART_Human	1.55795253
37	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.55237551
38	STAT3_23295773_ChIP-Seq_U87_Human	1.54760263
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.52159188
40	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.52004133
41	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.50585804
42	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.49016783
43	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.46091997
44	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.46091997
45	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.45661023
46	ELK1_19687146_ChIP-ChIP_HELA_Human	1.44560398
47	SMAD4_21799915_ChIP-Seq_A2780_Human	1.43746590
48	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.42538079
49	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.41726348
50	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41514060
51	AR_25329375_ChIP-Seq_VCAP_Human	1.40860276
52	TCF4_23295773_ChIP-Seq_U87_Human	1.40410509
53	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.39930390
54	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.39414400
55	RNF2_27304074_Chip-Seq_NSC_Mouse	1.38497555
56	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35931805
57	REST_21632747_ChIP-Seq_MESCs_Mouse	1.33960757
58	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.33506384
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.32255790
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.30184545
61	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28702257
62	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28702257
63	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.26895892
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.24697561
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.24021991
66	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.23323407
67	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.22453176
68	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.22312745
69	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.22312745
70	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17882331
71	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.17626327
72	VDR_23849224_ChIP-Seq_CD4+_Human	1.16780423
73	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.15910385
74	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.13501526
75	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.13163265
76	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.12907478
77	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12824523
78	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12121534
79	AR_21572438_ChIP-Seq_LNCaP_Human	1.12027740
80	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11453761
81	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.11218488
82	NCOR_22424771_ChIP-Seq_293T_Human	1.10390427
83	AR_20517297_ChIP-Seq_VCAP_Human	1.09726857
84	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.09676392
85	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08584679
86	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.08465397
87	* PRDM14_20953172_ChIP-Seq_ESCs_Human	1.08069271
88	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.06010671
89	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02724170
90	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.01981997
91	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00684429
92	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.97133996
93	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.95838607
94	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.95556843
95	* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.95272419
96	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.94858205
97	P53_22387025_ChIP-Seq_ESCs_Mouse	0.94573874
98	CDX2_22108803_ChIP-Seq_LS180_Human	0.94030013
99	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.93255796
100	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.93108001

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.52350994
2	MP0003195_calcinosis	2.64790625
3	MP0002102_abnormal_ear_morphology	2.64671719
4	MP0005551_abnormal_eye_electrophysiolog	2.45179026
5	MP0003787_abnormal_imprinting	2.44099671
6	MP0003136_yellow_coat_color	2.28807400
7	MP0003646_muscle_fatigue	2.28521423
8	MP0006292_abnormal_olfactory_placode	2.21450036
9	MP0001968_abnormal_touch/_nociception	2.17706777
10	MP0000569_abnormal_digit_pigmentation	2.04564775
11	MP0009046_muscle_twitch	2.00044997
12	MP0001986_abnormal_taste_sensitivity	1.98068829
13	MP0006072_abnormal_retinal_apoptosis	1.97387820
14	MP0003880_abnormal_central_pattern	1.93727420
15	MP0002837_dystrophic_cardiac_calcinosis	1.85386651
16	MP0000427_abnormal_hair_cycle	1.84765759
17	MP0009745_abnormal_behavioral_response	1.84209555
18	MP0002938_white_spotting	1.83294370
19	MP0004142_abnormal_muscle_tone	1.78817605
20	MP0002736_abnormal_nociception_after	1.73321576
21	MP0004885_abnormal_endolymph	1.72214180
22	MP0006276_abnormal_autonomic_nervous	1.72176513
23	MP0000631_abnormal_neuroendocrine_gland	1.70869222
24	MP0002272_abnormal_nervous_system	1.70348267
25	MP0008872_abnormal_physiological_respon	1.69953823
26	MP0005253_abnormal_eye_physiology	1.69078980
27	MP0005645_abnormal_hypothalamus_physiol	1.67872586
28	MP0001485_abnormal_pinna_reflex	1.66497206
29	MP0001501_abnormal_sleep_pattern	1.65321934
30	MP0002876_abnormal_thyroid_physiology	1.62308400
31	MP0005646_abnormal_pituitary_gland	1.59022864
32	MP0002638_abnormal_pupillary_reflex	1.56528195
33	MP0004043_abnormal_pH_regulation	1.48007708
34	MP0008058_abnormal_DNA_repair	1.44935466
35	MP0008875_abnormal_xenobiotic_pharmacok	1.42651318
36	MP0004133_heterotaxia	1.42537680
37	MP0000372_irregular_coat_pigmentation	1.40863723
38	MP0004742_abnormal_vestibular_system	1.34850098
39	MP0002160_abnormal_reproductive_system	1.33998167
40	MP0010386_abnormal_urinary_bladder	1.33749535
41	MP0005389_reproductive_system_phenotype	1.31797864
42	MP0005174_abnormal_tail_pigmentation	1.31237671
43	MP0004147_increased_porphyrin_level	1.29559702
44	MP0001486_abnormal_startle_reflex	1.28475321
45	MP0003121_genomic_imprinting	1.28178423
46	MP0002234_abnormal_pharynx_morphology	1.28150953
47	MP0002735_abnormal_chemical_nociception	1.27429834
48	MP0005084_abnormal_gallbladder_morpholo	1.27301185
49	MP0003011_delayed_dark_adaptation	1.26561376
50	MP0008995_early_reproductive_senescence	1.24991411
51	MP0003718_maternal_effect	1.24282600
52	MP0001984_abnormal_olfaction	1.22338079
53	MP0002572_abnormal_emotion/affect_behav	1.21759247
54	MP0002928_abnormal_bile_duct	1.21223003
55	MP0002064_seizures	1.18282196
56	MP0002163_abnormal_gland_morphology	1.17591348
57	MP0002557_abnormal_social/conspecific_i	1.17162804
58	MP0001529_abnormal_vocalization	1.13909553
59	MP0005075_abnormal_melanosome_morpholog	1.13425120
60	MP0001919_abnormal_reproductive_system	1.12237616
61	MP0002095_abnormal_skin_pigmentation	1.12046013
62	MP0005195_abnormal_posterior_eye	1.08791820
63	MP0004924_abnormal_behavior	1.04038791
64	MP0005386_behavior/neurological_phenoty	1.04038791
65	MP0002138_abnormal_hepatobiliary_system	1.03276882
66	MP0002210_abnormal_sex_determination	1.02411943
67	MP0004215_abnormal_myocardial_fiber	1.02106596
68	MP0002067_abnormal_sensory_capabilities	1.01491526
69	MP0003635_abnormal_synaptic_transmissio	1.01394425
70	MP0000778_abnormal_nervous_system	1.01139019
71	MP0001970_abnormal_pain_threshold	1.00538130
72	MP0005410_abnormal_fertilization	0.99805517
73	MP0008057_abnormal_DNA_replication	0.99555816
74	MP0003890_abnormal_embryonic-extraembry	0.98939454
75	MP0001293_anophthalmia	0.98701314
76	MP0003122_maternal_imprinting	0.98276273
77	MP0003698_abnormal_male_reproductive	0.97592554
78	MP0004145_abnormal_muscle_electrophysio	0.97144246
79	MP0002063_abnormal_learning/memory/cond	0.97077699
80	MP0000383_abnormal_hair_follicle	0.95150611
81	MP0002752_abnormal_somatic_nervous	0.94150442
82	MP0005187_abnormal_penis_morphology	0.93139072
83	MP0000647_abnormal_sebaceous_gland	0.93099260
84	MP0002733_abnormal_thermal_nociception	0.93033772
85	MP0002751_abnormal_autonomic_nervous	0.91925302
86	MP0005379_endocrine/exocrine_gland_phen	0.91413568
87	MP0001929_abnormal_gametogenesis	0.90171744
88	MP0001324_abnormal_eye_pigmentation	0.89708221
89	MP0002653_abnormal_ependyma_morphology	0.89365788
90	MP0002184_abnormal_innervation	0.89073630
91	MP0005423_abnormal_somatic_nervous	0.86663645
92	MP0008775_abnormal_heart_ventricle	0.85153734
93	MP0003937_abnormal_limbs/digits/tail_de	0.85104502
94	MP0001905_abnormal_dopamine_level	0.83373330
95	MP0000049_abnormal_middle_ear	0.83050905
96	MP0003878_abnormal_ear_physiology	0.82895381
97	MP0005377_hearing/vestibular/ear_phenot	0.82895381
98	MP0002734_abnormal_mechanical_nocicepti	0.82734683
99	MP0000653_abnormal_sex_gland	0.82089982
100	MP0003119_abnormal_digestive_system	0.81686774

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.52097597
2	Abnormality of midbrain morphology (HP:0002418)	4.18733363
3	Molar tooth sign on MRI (HP:0002419)	4.18733363
4	Pancreatic fibrosis (HP:0100732)	4.13459086
5	True hermaphroditism (HP:0010459)	4.00149194
6	Type II lissencephaly (HP:0007260)	3.71403242
7	Chronic hepatic failure (HP:0100626)	3.68579043
8	Nephronophthisis (HP:0000090)	3.67964831
9	Congenital stationary night blindness (HP:0007642)	3.47265745
10	Hyperventilation (HP:0002883)	3.27195192
11	Abnormality of the renal medulla (HP:0100957)	3.18995055
12	Abnormality of the renal cortex (HP:0011035)	3.14379137
13	Cerebellar dysplasia (HP:0007033)	3.08805293
14	Medial flaring of the eyebrow (HP:0010747)	2.85400290
15	Cystic liver disease (HP:0006706)	2.74903856
16	Abolished electroretinogram (ERG) (HP:0000550)	2.73455440
17	Attenuation of retinal blood vessels (HP:0007843)	2.70665937
18	Tubular atrophy (HP:0000092)	2.66267190
19	Lissencephaly (HP:0001339)	2.60066526
20	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.57543545
21	Abnormality of alanine metabolism (HP:0010916)	2.57543545
22	Hyperalaninemia (HP:0003348)	2.57543545
23	Retinal dysplasia (HP:0007973)	2.56422878
24	Bile duct proliferation (HP:0001408)	2.50759246
25	Abnormal biliary tract physiology (HP:0012439)	2.50759246
26	Polydipsia (HP:0001959)	2.48646289
27	Abnormal drinking behavior (HP:0030082)	2.48646289
28	Hypoplasia of the pons (HP:0012110)	2.46186882
29	Pendular nystagmus (HP:0012043)	2.46111422
30	Sclerocornea (HP:0000647)	2.43635550
31	Abnormality of the pons (HP:0007361)	2.42666497
32	Renal cortical cysts (HP:0000803)	2.41182903
33	Protruding tongue (HP:0010808)	2.38895190
34	Inability to walk (HP:0002540)	2.33594562
35	Gaze-evoked nystagmus (HP:0000640)	2.33262228
36	Gait imbalance (HP:0002141)	2.24395433
37	Decreased central vision (HP:0007663)	2.21800977
38	Anencephaly (HP:0002323)	2.20970023
39	Male pseudohermaphroditism (HP:0000037)	2.18506560
40	Abnormal rod and cone electroretinograms (HP:0008323)	2.17977794
41	Keratoconus (HP:0000563)	2.17323438
42	Increased corneal curvature (HP:0100692)	2.17323438
43	Congenital primary aphakia (HP:0007707)	2.17002522
44	Decreased circulating renin level (HP:0003351)	2.15095843
45	Colon cancer (HP:0003003)	2.12741830
46	Progressive cerebellar ataxia (HP:0002073)	2.12166891
47	Congenital hepatic fibrosis (HP:0002612)	2.11915499
48	Progressive inability to walk (HP:0002505)	2.11387226
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.11180147
50	Congenital, generalized hypertrichosis (HP:0004540)	2.07753180
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.07611399
52	Methylmalonic acidemia (HP:0002912)	2.06785157
53	Genetic anticipation (HP:0003743)	2.06647086
54	Broad-based gait (HP:0002136)	2.06186289
55	Nephrogenic diabetes insipidus (HP:0009806)	2.04726238
56	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.04570186
57	Pachygyria (HP:0001302)	1.97926398
58	Abnormality of the labia minora (HP:0012880)	1.96416053
59	Limb dystonia (HP:0002451)	1.95377129
60	Increased CSF lactate (HP:0002490)	1.94817302
61	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.94743262
62	Furrowed tongue (HP:0000221)	1.94531932
63	Patellar aplasia (HP:0006443)	1.94147385
64	Bilateral microphthalmos (HP:0007633)	1.92356144
65	Large for gestational age (HP:0001520)	1.91956875
66	Postaxial foot polydactyly (HP:0001830)	1.91056138
67	Genital tract atresia (HP:0001827)	1.90991413
68	Tachypnea (HP:0002789)	1.90098533
69	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.87677510
70	Vaginal atresia (HP:0000148)	1.85916703
71	Chorioretinal atrophy (HP:0000533)	1.85739757
72	Dandy-Walker malformation (HP:0001305)	1.85404990
73	Polyuria (HP:0000103)	1.85167091
74	Abnormality of the ileum (HP:0001549)	1.84608369
75	3-Methylglutaconic aciduria (HP:0003535)	1.83836887
76	Aplasia/Hypoplasia of the patella (HP:0006498)	1.82962731
77	Birth length less than 3rd percentile (HP:0003561)	1.82815553
78	Severe muscular hypotonia (HP:0006829)	1.82516167
79	Concave nail (HP:0001598)	1.82420230
80	Volvulus (HP:0002580)	1.80316818
81	Meckel diverticulum (HP:0002245)	1.79940607
82	Preaxial hand polydactyly (HP:0001177)	1.78005864
83	Optic nerve hypoplasia (HP:0000609)	1.76843505
84	Acute necrotizing encephalopathy (HP:0006965)	1.76055300
85	Absent speech (HP:0001344)	1.75421281
86	Absent/shortened dynein arms (HP:0200106)	1.74562142
87	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.74562142
88	Bony spicule pigmentary retinopathy (HP:0007737)	1.74445483
89	Mitochondrial inheritance (HP:0001427)	1.74386761
90	Methylmalonic aciduria (HP:0012120)	1.74039506
91	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.73407504
92	Hypoplasia of the fovea (HP:0007750)	1.73407504
93	Intestinal atresia (HP:0011100)	1.72565770
94	Stomach cancer (HP:0012126)	1.72380429
95	Ectopic kidney (HP:0000086)	1.69536062
96	Postaxial hand polydactyly (HP:0001162)	1.68974587
97	Absent thumb (HP:0009777)	1.68049976
98	Fair hair (HP:0002286)	1.67617372
99	Clumsiness (HP:0002312)	1.67191521
100	Febrile seizures (HP:0002373)	1.66977270

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.88752923
2	ADRBK2	2.94413491
3	ZAK	2.90274536
4	BMPR1B	2.83670679
5	NUAK1	2.68734772
6	CASK	2.58521962
7	GRK1	2.38668132
8	WNK3	2.32802366
9	MAP4K2	2.31435506
10	ACVR1B	2.24164334
11	TLK1	2.23796690
12	WNK4	2.17466978
13	PINK1	2.16745111
14	TNIK	2.01266912
15	MAPK13	1.88880422
16	INSRR	1.86357781
17	MKNK2	1.63004852
18	OXSR1	1.50372582
19	TAOK3	1.31735581
20	STK39	1.31550510
21	MAP3K4	1.29573752
22	TRIM28	1.27640234
23	STK38L	1.25329078
24	PAK3	1.20889936
25	BRSK2	1.18521493
26	PLK4	1.12516303
27	VRK1	1.12215243
28	DYRK2	1.10921387
29	MARK1	1.09764671
30	MAPKAPK5	1.04607371
31	MAPKAPK3	1.04009087
32	TAF1	1.03089363
33	DAPK2	1.02585922
34	ADRBK1	1.01264725
35	PLK3	0.98864291
36	TGFBR1	0.95641422
37	MUSK	0.95501375
38	PRKCG	0.95434275
39	PLK2	0.94648443
40	VRK2	0.92583011
41	MKNK1	0.89639875
42	PNCK	0.88869710
43	TXK	0.88596953
44	CSNK1G2	0.85200262
45	PRKCE	0.81361435
46	CSNK1G1	0.81283229
47	NTRK3	0.80567419
48	TIE1	0.80427183
49	CAMKK2	0.77325988
50	MARK3	0.74020440
51	CDC7	0.73541792
52	STK11	0.73356270
53	PIK3CA	0.72391972
54	WEE1	0.70733699
55	STK3	0.70218349
56	CSNK1G3	0.69827262
57	NLK	0.69604786
58	MAP2K7	0.68839953
59	TSSK6	0.68193838
60	EIF2AK3	0.65632445
61	SIK2	0.64607830
62	TEC	0.64026194
63	AKT3	0.63616814
64	BCKDK	0.63442268
65	CHEK2	0.62061113
66	NTRK2	0.59972817
67	RPS6KA5	0.59720126
68	PHKG2	0.56331764
69	PHKG1	0.56331764
70	IKBKB	0.55418545
71	PKN1	0.55141651
72	MST4	0.54017577
73	PLK1	0.53503681
74	FGFR2	0.52453907
75	STK16	0.51930068
76	DYRK3	0.51138212
77	ATR	0.50072876
78	SRPK1	0.49727262
79	EPHA4	0.47962402
80	CSNK1D	0.47957106
81	CSNK1A1L	0.46947267
82	ERBB3	0.46652214
83	TNK2	0.45276288
84	NEK2	0.44637256
85	CAMK2A	0.44573595
86	PRKACA	0.44504042
87	SGK2	0.44116123
88	MAPK15	0.43628582
89	PRKCQ	0.43282430
90	BCR	0.42148015
91	CAMK1	0.40365946
92	PTK2B	0.39883407
93	BUB1	0.39669881
94	CSNK1A1	0.38823852
95	ATM	0.38811725
96	NME1	0.37642654
97	OBSCN	0.33752535
98	PRKCI	0.33352957
99	DYRK1A	0.32478173
100	SGK223	0.32047263

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.63644013
2	Homologous recombination_Homo sapiens_hsa03440	2.45702230
3	RNA polymerase_Homo sapiens_hsa03020	2.35582978
4	Nitrogen metabolism_Homo sapiens_hsa00910	2.25610430
5	Nicotine addiction_Homo sapiens_hsa05033	2.21221006
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.18826764
7	Fanconi anemia pathway_Homo sapiens_hsa03460	2.14242919
8	Basal transcription factors_Homo sapiens_hsa03022	2.13488222
9	Oxidative phosphorylation_Homo sapiens_hsa00190	2.12444679
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.04762568
11	Selenocompound metabolism_Homo sapiens_hsa00450	1.96642104
12	Butanoate metabolism_Homo sapiens_hsa00650	1.94283578
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.93008839
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.91203221
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.89701632
16	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.85168416
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.77251731
18	Tryptophan metabolism_Homo sapiens_hsa00380	1.76213659
19	One carbon pool by folate_Homo sapiens_hsa00670	1.74600596
20	Protein export_Homo sapiens_hsa03060	1.67851825
21	RNA degradation_Homo sapiens_hsa03018	1.67361480
22	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.62287550
23	Parkinsons disease_Homo sapiens_hsa05012	1.61100063
24	Caffeine metabolism_Homo sapiens_hsa00232	1.60872237
25	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.59495112
26	Propanoate metabolism_Homo sapiens_hsa00640	1.55510057
27	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.54511846
28	Ether lipid metabolism_Homo sapiens_hsa00565	1.51124985
29	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.44226849
30	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.40134758
31	Taste transduction_Homo sapiens_hsa04742	1.34477565
32	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.34457445
33	Morphine addiction_Homo sapiens_hsa05032	1.32436138
34	Olfactory transduction_Homo sapiens_hsa04740	1.30910974
35	Non-homologous end-joining_Homo sapiens_hsa03450	1.24578083
36	Peroxisome_Homo sapiens_hsa04146	1.24468000
37	Cardiac muscle contraction_Homo sapiens_hsa04260	1.23601644
38	Huntingtons disease_Homo sapiens_hsa05016	1.18615565
39	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.16583276
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.16493707
41	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.12383348
42	ABC transporters_Homo sapiens_hsa02010	1.08255250
43	Regulation of autophagy_Homo sapiens_hsa04140	1.07667638
44	Circadian entrainment_Homo sapiens_hsa04713	1.07113210
45	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.06702760
46	Insulin secretion_Homo sapiens_hsa04911	1.05206567
47	Chemical carcinogenesis_Homo sapiens_hsa05204	1.01004771
48	Nucleotide excision repair_Homo sapiens_hsa03420	0.99565018
49	GABAergic synapse_Homo sapiens_hsa04727	0.99372207
50	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.99162636
51	Serotonergic synapse_Homo sapiens_hsa04726	0.97165523
52	Alzheimers disease_Homo sapiens_hsa05010	0.96056370
53	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.95581372
54	Glutamatergic synapse_Homo sapiens_hsa04724	0.94628478
55	Purine metabolism_Homo sapiens_hsa00230	0.91955323
56	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.90466862
57	Mismatch repair_Homo sapiens_hsa03430	0.90329819
58	Sulfur metabolism_Homo sapiens_hsa00920	0.85454271
59	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.84615213
60	Retinol metabolism_Homo sapiens_hsa00830	0.84355482
61	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.82957274
62	Ribosome_Homo sapiens_hsa03010	0.82374366
63	Circadian rhythm_Homo sapiens_hsa04710	0.81318182
64	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80003315
65	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.79221255
66	RNA transport_Homo sapiens_hsa03013	0.78582004
67	Glycerolipid metabolism_Homo sapiens_hsa00561	0.78020445
68	Pyrimidine metabolism_Homo sapiens_hsa00240	0.71746261
69	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.71700075
70	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.69424781
71	Salivary secretion_Homo sapiens_hsa04970	0.69369890
72	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.69273982
73	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.68238386
74	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.65895029
75	Collecting duct acid secretion_Homo sapiens_hsa04966	0.64981919
76	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.64802300
77	Dopaminergic synapse_Homo sapiens_hsa04728	0.64418555
78	Calcium signaling pathway_Homo sapiens_hsa04020	0.63409486
79	Metabolic pathways_Homo sapiens_hsa01100	0.59003349
80	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.58575320
81	Cocaine addiction_Homo sapiens_hsa05030	0.57370751
82	Histidine metabolism_Homo sapiens_hsa00340	0.56544027
83	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.55403390
84	Primary immunodeficiency_Homo sapiens_hsa05340	0.53428525
85	Amphetamine addiction_Homo sapiens_hsa05031	0.51508929
86	Basal cell carcinoma_Homo sapiens_hsa05217	0.51130326
87	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.48053753
88	Mineral absorption_Homo sapiens_hsa04978	0.43460415
89	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.42628875
90	Cholinergic synapse_Homo sapiens_hsa04725	0.41253607
91	Fat digestion and absorption_Homo sapiens_hsa04975	0.40766669
92	Proteasome_Homo sapiens_hsa03050	0.40691358
93	Long-term depression_Homo sapiens_hsa04730	0.39930550
94	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.39325325
95	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.38117384
96	Steroid biosynthesis_Homo sapiens_hsa00100	0.38021370
97	Sulfur relay system_Homo sapiens_hsa04122	0.37060843
98	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.36466923
99	Base excision repair_Homo sapiens_hsa03410	0.35762391
100	Fatty acid degradation_Homo sapiens_hsa00071	0.34748671

ZNF829

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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