ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.09501373
2	response to pheromone (GO:0019236)	3.85895782
3	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.81526506
4	pyrimidine nucleobase catabolic process (GO:0006208)	3.77552903
5	neural tube formation (GO:0001841)	3.51481607
6	presynaptic membrane assembly (GO:0097105)	3.49770600
7	meiotic chromosome segregation (GO:0045132)	3.42776289
8	cilium or flagellum-dependent cell motility (GO:0001539)	3.36993380
9	neuron cell-cell adhesion (GO:0007158)	3.33602113
10	regulation of hippo signaling (GO:0035330)	3.31067347
11	postsynaptic membrane organization (GO:0001941)	3.29633603
12	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.19555115
13	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.19555115
14	presynaptic membrane organization (GO:0097090)	3.16807129
15	somite development (GO:0061053)	3.14311814
16	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.13793607
17	protein localization to cilium (GO:0061512)	3.12720166
18	reciprocal DNA recombination (GO:0035825)	3.09633439
19	reciprocal meiotic recombination (GO:0007131)	3.09633439
20	nucleobase catabolic process (GO:0046113)	3.05572697
21	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.01125406
22	regulation of non-canonical Wnt signaling pathway (GO:2000050)	3.00768955
23	DNA double-strand break processing (GO:0000729)	2.99988032
24	intraciliary transport (GO:0042073)	2.98659225
25	epithelial cilium movement (GO:0003351)	2.96554237
26	axoneme assembly (GO:0035082)	2.93874013
27	peristalsis (GO:0030432)	2.92811997
28	detection of light stimulus involved in visual perception (GO:0050908)	2.91927614
29	detection of light stimulus involved in sensory perception (GO:0050962)	2.91927614
30	regulation of DNA endoreduplication (GO:0032875)	2.91123291
31	ubiquinone metabolic process (GO:0006743)	2.90214013
32	negative regulation of oligodendrocyte differentiation (GO:0048715)	2.89533211
33	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.88777169
34	cilium organization (GO:0044782)	2.86336932
35	cilium assembly (GO:0042384)	2.84688743
36	cornea development in camera-type eye (GO:0061303)	2.84588555
37	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.82338405
38	recombinational repair (GO:0000725)	2.80839461
39	double-strand break repair via homologous recombination (GO:0000724)	2.78648329
40	cilium morphogenesis (GO:0060271)	2.77905338
41	centriole replication (GO:0007099)	2.77698661
42	replication fork processing (GO:0031297)	2.75329131
43	water-soluble vitamin biosynthetic process (GO:0042364)	2.71962372
44	sympathetic nervous system development (GO:0048485)	2.70527039
45	neuronal action potential (GO:0019228)	2.67354488
46	transmission of nerve impulse (GO:0019226)	2.66112825
47	protein K6-linked ubiquitination (GO:0085020)	2.63314209
48	cilium movement (GO:0003341)	2.60932268
49	spinal cord motor neuron differentiation (GO:0021522)	2.60822065
50	microtubule anchoring (GO:0034453)	2.60682975
51	regulation of gene silencing by RNA (GO:0060966)	2.60491474
52	regulation of posttranscriptional gene silencing (GO:0060147)	2.60491474
53	regulation of gene silencing by miRNA (GO:0060964)	2.60491474
54	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.60342931
55	protein-cofactor linkage (GO:0018065)	2.59772744
56	positive regulation of developmental pigmentation (GO:0048087)	2.57633519
57	limb development (GO:0060173)	2.57071602
58	appendage development (GO:0048736)	2.57071602
59	photoreceptor cell maintenance (GO:0045494)	2.55943024
60	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.55561971
61	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.55561971
62	regulation of translation, ncRNA-mediated (GO:0045974)	2.55561971
63	nonmotile primary cilium assembly (GO:0035058)	2.54360272
64	positive regulation of mitochondrial fission (GO:0090141)	2.53349118
65	startle response (GO:0001964)	2.53144292
66	microtubule depolymerization (GO:0007019)	2.52562367
67	L-fucose metabolic process (GO:0042354)	2.50400602
68	L-fucose catabolic process (GO:0042355)	2.50400602
69	fucose catabolic process (GO:0019317)	2.50400602
70	pyrimidine dimer repair (GO:0006290)	2.48973538
71	photoreceptor cell development (GO:0042461)	2.47566867
72	regulation of neurotransmitter uptake (GO:0051580)	2.47381315
73	regulation of centriole replication (GO:0046599)	2.46794367
74	rRNA catabolic process (GO:0016075)	2.46494877
75	piRNA metabolic process (GO:0034587)	2.46223984
76	cell differentiation in spinal cord (GO:0021515)	2.44205023
77	behavioral response to ethanol (GO:0048149)	2.41925150
78	dopamine transport (GO:0015872)	2.40994474
79	DNA demethylation (GO:0080111)	2.40845134
80	postreplication repair (GO:0006301)	2.40818450
81	mannosylation (GO:0097502)	2.40765279
82	protein localization to synapse (GO:0035418)	2.40713270
83	protein prenylation (GO:0018342)	2.40211309
84	prenylation (GO:0097354)	2.40211309
85	olfactory bulb development (GO:0021772)	2.40122048
86	forebrain neuron differentiation (GO:0021879)	2.39401783
87	indolalkylamine metabolic process (GO:0006586)	2.38139991
88	C4-dicarboxylate transport (GO:0015740)	2.38123448
89	retinal ganglion cell axon guidance (GO:0031290)	2.37860978
90	smoothened signaling pathway (GO:0007224)	2.37723863
91	DNA deamination (GO:0045006)	2.36614470
92	peptidyl-histidine modification (GO:0018202)	2.36252521
93	negative regulation of neurotransmitter transport (GO:0051589)	2.36146041
94	ubiquinone biosynthetic process (GO:0006744)	2.35613614
95	cellular ketone body metabolic process (GO:0046950)	2.35337052
96	synaptic transmission, cholinergic (GO:0007271)	2.35097205
97	DNA-dependent DNA replication (GO:0006261)	2.33614266
98	amino acid salvage (GO:0043102)	2.33335391
99	L-methionine salvage (GO:0071267)	2.33335391
100	L-methionine biosynthetic process (GO:0071265)	2.33335391

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.50577482
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.36634719
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.36265510
4	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.29251500
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.27266146
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.96353663
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.93390680
8	FUS_26573619_Chip-Seq_HEK293_Human	2.92922467
9	TAF15_26573619_Chip-Seq_HEK293_Human	2.82716852
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.71650300
11	EWS_26573619_Chip-Seq_HEK293_Human	2.61873756
12	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.49956764
13	VDR_22108803_ChIP-Seq_LS180_Human	2.36638842
14	EZH2_22144423_ChIP-Seq_EOC_Human	2.36367291
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.29215884
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.19543446
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.15941099
18	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.10184323
19	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.97906766
20	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.95135497
21	P300_19829295_ChIP-Seq_ESCs_Human	1.91191458
22	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.88080792
23	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.86938562
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.85945271
25	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.81331459
26	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.66779863
27	AR_21572438_ChIP-Seq_LNCaP_Human	1.65307670
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.63544339
29	STAT3_23295773_ChIP-Seq_U87_Human	1.62775659
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.58232524
31	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56819242
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.56819242
33	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.56668120
34	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.54803526
35	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.54671274
36	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.53697695
37	SMAD4_21799915_ChIP-Seq_A2780_Human	1.49740740
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.49667145
39	IRF1_19129219_ChIP-ChIP_H3396_Human	1.49466306
40	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.42018066
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.41485997
42	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.40799128
43	* TP53_22573176_ChIP-Seq_HFKS_Human	1.40039751
44	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.39658553
45	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.38079283
46	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.38079283
47	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.36730785
48	TCF4_23295773_ChIP-Seq_U87_Human	1.35825257
49	ELK1_19687146_ChIP-ChIP_HELA_Human	1.35353819
50	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.34044114
51	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.33978221
52	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33608983
53	MYC_18940864_ChIP-ChIP_HL60_Human	1.33434282
54	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.32526343
55	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.32270255
56	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30827378
57	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.29497221
58	AR_25329375_ChIP-Seq_VCAP_Human	1.25788851
59	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.24845530
60	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.24016295
61	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.23983534
62	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.23972664
63	E2F7_22180533_ChIP-Seq_HELA_Human	1.23603045
64	RNF2_27304074_Chip-Seq_NSC_Mouse	1.21184394
65	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.20929163
66	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.20795663
67	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.20011341
68	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.19603225
69	REST_21632747_ChIP-Seq_MESCs_Mouse	1.15924037
70	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14830270
71	TCF4_22108803_ChIP-Seq_LS180_Human	1.14293320
72	* VDR_23849224_ChIP-Seq_CD4+_Human	1.11933932
73	RUNX2_22187159_ChIP-Seq_PCA_Human	1.10566071
74	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.10261302
75	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.09600343
76	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.08289433
77	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.06937369
78	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05584200
79	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.03920652
80	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.03415318
81	TP53_16413492_ChIP-PET_HCT116_Human	1.01556147
82	SOX2_19829295_ChIP-Seq_ESCs_Human	0.99705848
83	NANOG_19829295_ChIP-Seq_ESCs_Human	0.99705848
84	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.99117695
85	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.97618131
86	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.97329811
87	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.97060469
88	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.96451344
89	SOX9_26525672_Chip-Seq_HEART_Mouse	0.96424833
90	P53_22387025_ChIP-Seq_ESCs_Mouse	0.94380427
91	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.94202612
92	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.93763703
93	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.93294954
94	JUN_21703547_ChIP-Seq_K562_Human	0.92886295
95	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.91824506
96	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.90375341
97	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.89711279
98	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.86981351
99	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.86831943
100	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.85058174

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	3.79755657
2	MP0005171_absent_coat_pigmentation	3.21057772
3	MP0008877_abnormal_DNA_methylation	3.20891316
4	MP0008057_abnormal_DNA_replication	2.94872253
5	MP0002102_abnormal_ear_morphology	2.65533302
6	MP0002638_abnormal_pupillary_reflex	2.43672856
7	MP0005174_abnormal_tail_pigmentation	2.20533463
8	MP0001968_abnormal_touch/_nociception	2.18995778
9	MP0003787_abnormal_imprinting	2.13036143
10	MP0003880_abnormal_central_pattern	2.09262753
11	MP0005645_abnormal_hypothalamus_physiol	2.09161427
12	MP0000569_abnormal_digit_pigmentation	2.07062069
13	MP0005423_abnormal_somatic_nervous	2.02826196
14	MP0005646_abnormal_pituitary_gland	1.96918232
15	MP0001986_abnormal_taste_sensitivity	1.94403390
16	MP0005551_abnormal_eye_electrophysiolog	1.93213296
17	MP0002736_abnormal_nociception_after	1.83273174
18	MP0001188_hyperpigmentation	1.82917521
19	MP0002653_abnormal_ependyma_morphology	1.79654951
20	MP0010094_abnormal_chromosome_stability	1.75766880
21	MP0009046_muscle_twitch	1.73747869
22	MP0001529_abnormal_vocalization	1.69141057
23	MP0000631_abnormal_neuroendocrine_gland	1.68947835
24	MP0005253_abnormal_eye_physiology	1.68696137
25	MP0006072_abnormal_retinal_apoptosis	1.67133142
26	MP0006292_abnormal_olfactory_placode	1.66287948
27	MP0000372_irregular_coat_pigmentation	1.58001929
28	MP0008058_abnormal_DNA_repair	1.56786963
29	MP0003121_genomic_imprinting	1.53752328
30	MP0000778_abnormal_nervous_system	1.51661195
31	MP0006276_abnormal_autonomic_nervous	1.45744234
32	MP0002938_white_spotting	1.42876319
33	MP0000383_abnormal_hair_follicle	1.41125739
34	MP0004142_abnormal_muscle_tone	1.39599267
35	MP0000427_abnormal_hair_cycle	1.38401388
36	MP0002735_abnormal_chemical_nociception	1.37664895
37	MP0001984_abnormal_olfaction	1.35029708
38	MP0009745_abnormal_behavioral_response	1.34780301
39	MP0008789_abnormal_olfactory_epithelium	1.30323428
40	MP0004133_heterotaxia	1.29450027
41	MP0002095_abnormal_skin_pigmentation	1.28918220
42	MP0001486_abnormal_startle_reflex	1.28749784
43	MP0003122_maternal_imprinting	1.25885450
44	MP0002751_abnormal_autonomic_nervous	1.25816936
45	MP0003195_calcinosis	1.25225958
46	MP0004043_abnormal_pH_regulation	1.24924586
47	MP0005187_abnormal_penis_morphology	1.23414254
48	MP0001293_anophthalmia	1.22864921
49	MP0004145_abnormal_muscle_electrophysio	1.21946963
50	MP0002928_abnormal_bile_duct	1.20824782
51	MP0002272_abnormal_nervous_system	1.18565704
52	MP0005394_taste/olfaction_phenotype	1.14469764
53	MP0005499_abnormal_olfactory_system	1.14469764
54	MP0002837_dystrophic_cardiac_calcinosis	1.12475576
55	MP0004215_abnormal_myocardial_fiber	1.11373845
56	MP0004885_abnormal_endolymph	1.10806325
57	MP0002822_catalepsy	1.10424969
58	MP0002557_abnormal_social/conspecific_i	1.09098684
59	MP0003635_abnormal_synaptic_transmissio	1.07652866
60	MP0004147_increased_porphyrin_level	1.07356952
61	MP0000647_abnormal_sebaceous_gland	1.06532227
62	MP0003937_abnormal_limbs/digits/tail_de	1.05372706
63	MP0002067_abnormal_sensory_capabilities	1.01101727
64	MP0002572_abnormal_emotion/affect_behav	0.98829113
65	MP0002064_seizures	0.98790358
66	MP0001485_abnormal_pinna_reflex	0.98694683
67	MP0000015_abnormal_ear_pigmentation	0.98283313
68	MP0002063_abnormal_learning/memory/cond	0.97219414
69	MP0005391_vision/eye_phenotype	0.93934206
70	MP0002160_abnormal_reproductive_system	0.92661644
71	MP0004742_abnormal_vestibular_system	0.92025760
72	MP0000955_abnormal_spinal_cord	0.91094502
73	MP0002752_abnormal_somatic_nervous	0.90339609
74	MP0003698_abnormal_male_reproductive	0.90337009
75	MP0001324_abnormal_eye_pigmentation	0.89646269
76	MP0000026_abnormal_inner_ear	0.88860645
77	MP0005386_behavior/neurological_phenoty	0.86911373
78	MP0004924_abnormal_behavior	0.86911373
79	MP0005195_abnormal_posterior_eye	0.86795326
80	MP0002210_abnormal_sex_determination	0.86745218
81	MP0003646_muscle_fatigue	0.86613841
82	MP0003718_maternal_effect	0.86440153
83	MP0002184_abnormal_innervation	0.85760681
84	MP0001929_abnormal_gametogenesis	0.83848830
85	MP0000049_abnormal_middle_ear	0.83782207
86	MP0001970_abnormal_pain_threshold	0.83392092
87	MP0001919_abnormal_reproductive_system	0.82767405
88	MP0005389_reproductive_system_phenotype	0.82640062
89	MP0002009_preneoplasia	0.82619605
90	MP0002734_abnormal_mechanical_nocicepti	0.81924293
91	MP0003693_abnormal_embryo_hatching	0.81640318
92	MP0008875_abnormal_xenobiotic_pharmacok	0.81233422
93	MP0001286_abnormal_eye_development	0.79777023
94	MP0002233_abnormal_nose_morphology	0.78792202
95	MP0003111_abnormal_nucleus_morphology	0.78446056
96	MP0002882_abnormal_neuron_morphology	0.78386312
97	MP0008872_abnormal_physiological_respon	0.77372453
98	MP0003119_abnormal_digestive_system	0.76248784
99	MP0003567_abnormal_fetal_cardiomyocyte	0.75602390
100	MP0003077_abnormal_cell_cycle	0.75460588

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.81368144
2	Pancreatic fibrosis (HP:0100732)	3.62136009
3	True hermaphroditism (HP:0010459)	3.52968482
4	Abnormality of midbrain morphology (HP:0002418)	3.46650416
5	Molar tooth sign on MRI (HP:0002419)	3.46650416
6	Chronic hepatic failure (HP:0100626)	3.40499805
7	Nephronophthisis (HP:0000090)	3.16374567
8	Hyperventilation (HP:0002883)	3.11861159
9	Type II lissencephaly (HP:0007260)	3.03665987
10	Cerebellar dysplasia (HP:0007033)	3.02429314
11	Abnormality of the renal medulla (HP:0100957)	2.92327083
12	Medial flaring of the eyebrow (HP:0010747)	2.87985230
13	Congenital stationary night blindness (HP:0007642)	2.81099721
14	Abnormality of the renal cortex (HP:0011035)	2.79781628
15	Rib fusion (HP:0000902)	2.77013011
16	Lissencephaly (HP:0001339)	2.72669625
17	Patellar aplasia (HP:0006443)	2.65192613
18	Tubular atrophy (HP:0000092)	2.52939429
19	Cystic liver disease (HP:0006706)	2.52422886
20	Renal cortical cysts (HP:0000803)	2.46185302
21	Volvulus (HP:0002580)	2.44415824
22	Gait imbalance (HP:0002141)	2.43751325
23	Aplasia/Hypoplasia of the patella (HP:0006498)	2.40909764
24	Postaxial foot polydactyly (HP:0001830)	2.39807327
25	Congenital primary aphakia (HP:0007707)	2.38433467
26	Attenuation of retinal blood vessels (HP:0007843)	2.37115304
27	Tubulointerstitial nephritis (HP:0001970)	2.32540836
28	Nephrogenic diabetes insipidus (HP:0009806)	2.31609999
29	Oligodactyly (hands) (HP:0001180)	2.30876380
30	Optic nerve hypoplasia (HP:0000609)	2.28143189
31	Gaze-evoked nystagmus (HP:0000640)	2.25710489
32	Glioma (HP:0009733)	2.25087971
33	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.22501313
34	Chorioretinal atrophy (HP:0000533)	2.21553956
35	Genital tract atresia (HP:0001827)	2.20794935
36	Congenital hepatic fibrosis (HP:0002612)	2.20219885
37	Colon cancer (HP:0003003)	2.19908860
38	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.18535970
39	Protruding tongue (HP:0010808)	2.16996191
40	Small hand (HP:0200055)	2.16263210
41	Retinal dysplasia (HP:0007973)	2.11381869
42	Vaginal atresia (HP:0000148)	2.08854807
43	Sclerocornea (HP:0000647)	2.07740231
44	Absent speech (HP:0001344)	2.07703014
45	Focal motor seizures (HP:0011153)	2.06703532
46	Preaxial hand polydactyly (HP:0001177)	2.06364762
47	Abnormality of the astrocytes (HP:0100707)	2.06028403
48	Astrocytoma (HP:0009592)	2.06028403
49	Birth length less than 3rd percentile (HP:0003561)	2.04419721
50	Occipital encephalocele (HP:0002085)	2.04179937
51	Pachygyria (HP:0001302)	2.02321147
52	Polydipsia (HP:0001959)	2.00950471
53	Abnormal drinking behavior (HP:0030082)	2.00950471
54	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.99934317
55	Broad-based gait (HP:0002136)	1.98839180
56	Postaxial hand polydactyly (HP:0001162)	1.97015932
57	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.95854103
58	Bony spicule pigmentary retinopathy (HP:0007737)	1.94335161
59	Hypoplasia of the pons (HP:0012110)	1.93910454
60	Abnormality of alanine metabolism (HP:0010916)	1.93122943
61	Hyperalaninemia (HP:0003348)	1.93122943
62	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.93122943
63	Abnormality of the pons (HP:0007361)	1.92961597
64	Abnormality of chromosome stability (HP:0003220)	1.92116594
65	Poor coordination (HP:0002370)	1.89311258
66	Dandy-Walker malformation (HP:0001305)	1.88119593
67	Inability to walk (HP:0002540)	1.87415214
68	Abnormal biliary tract physiology (HP:0012439)	1.87248444
69	Bile duct proliferation (HP:0001408)	1.87248444
70	Anencephaly (HP:0002323)	1.84113397
71	Ectopic kidney (HP:0000086)	1.83914610
72	Short tibia (HP:0005736)	1.83786574
73	Pendular nystagmus (HP:0012043)	1.81760627
74	Genetic anticipation (HP:0003743)	1.81378857
75	Septo-optic dysplasia (HP:0100842)	1.81198812
76	Male pseudohermaphroditism (HP:0000037)	1.80575054
77	Abnormality of the ileum (HP:0001549)	1.80330505
78	Drooling (HP:0002307)	1.79994395
79	Increased corneal curvature (HP:0100692)	1.79938236
80	Keratoconus (HP:0000563)	1.79938236
81	Sloping forehead (HP:0000340)	1.79887856
82	Abnormal respiratory motile cilium morphology (HP:0005938)	1.79808027
83	Abnormal respiratory epithelium morphology (HP:0012253)	1.79808027
84	Short foot (HP:0001773)	1.78713882
85	Meckel diverticulum (HP:0002245)	1.78616305
86	Progressive cerebellar ataxia (HP:0002073)	1.75330296
87	Chromsome breakage (HP:0040012)	1.75169522
88	Progressive inability to walk (HP:0002505)	1.73592488
89	Astigmatism (HP:0000483)	1.73043150
90	Ependymoma (HP:0002888)	1.72775424
91	Tented upper lip vermilion (HP:0010804)	1.72701514
92	Oligodactyly (HP:0012165)	1.72283503
93	Hemiparesis (HP:0001269)	1.69432115
94	Median cleft lip (HP:0000161)	1.68525112
95	Abnormal albumin level (HP:0012116)	1.67877844
96	Hypoalbuminemia (HP:0003073)	1.67877844
97	Abolished electroretinogram (ERG) (HP:0000550)	1.67587426
98	Narrow forehead (HP:0000341)	1.67415728
99	Stomach cancer (HP:0012126)	1.66957039
100	Prominent nasal bridge (HP:0000426)	1.66507312

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.65874757
2	WNK3	3.06317557
3	CASK	3.05346661
4	BMPR1B	2.75844375
5	MAP3K4	2.49475047
6	ZAK	2.47846299
7	WNK4	2.20524104
8	MAP4K2	2.10413923
9	NUAK1	2.02182518
10	MAPK13	1.79479226
11	ADRBK2	1.75223520
12	INSRR	1.75074606
13	BCR	1.74837965
14	TNIK	1.74757770
15	MKNK2	1.69168413
16	MAP2K7	1.61609272
17	PINK1	1.57427465
18	CDC7	1.57309202
19	MARK1	1.55881604
20	ACVR1B	1.49715125
21	MAPK15	1.44309902
22	PLK2	1.44221017
23	CAMKK2	1.35390774
24	ATR	1.33998083
25	TRIM28	1.31404420
26	SRPK1	1.29172960
27	DYRK2	1.27347790
28	ERBB3	1.22906268
29	MKNK1	1.20523057
30	TLK1	1.20232165
31	PNCK	1.18221099
32	STK39	1.12305986
33	PLK4	1.10453633
34	FGFR2	1.09616201
35	GRK1	1.01855832
36	BRSK2	1.00880557
37	CSNK1G1	1.00733138
38	CSNK1A1L	0.99886103
39	CSNK1G3	0.99598456
40	CSNK1G2	0.99352428
41	DYRK3	0.98904284
42	WEE1	0.98563101
43	NTRK2	0.98154162
44	STK38L	0.96271244
45	OBSCN	0.94034722
46	RPS6KA4	0.93623432
47	CCNB1	0.92025907
48	NEK1	0.91859661
49	CDK3	0.91061132
50	AKT3	0.90072447
51	OXSR1	0.87227280
52	PAK3	0.84787977
53	SIK2	0.83876773
54	PLK3	0.82059504
55	SGK2	0.80639961
56	PRKCE	0.78910209
57	TGFBR1	0.78794099
58	ATM	0.77588722
59	CHEK2	0.75163929
60	CAMK4	0.73232350
61	MUSK	0.72969486
62	PLK1	0.71981595
63	TSSK6	0.70808339
64	VRK1	0.69471919
65	FER	0.68221772
66	CSNK1A1	0.66359998
67	PRKCG	0.65919446
68	SGK494	0.65610690
69	SGK223	0.65610690
70	EPHA4	0.65067771
71	NEK2	0.64894130
72	IRAK1	0.64675795
73	RPS6KA5	0.63652572
74	TAOK3	0.61263043
75	ADRBK1	0.59964787
76	CSNK1D	0.59343300
77	TXK	0.57617842
78	LATS1	0.56518032
79	CAMK1	0.56514430
80	CAMK1G	0.52361242
81	TYRO3	0.49881109
82	NTRK3	0.49638475
83	EIF2AK3	0.45685991
84	CAMK2A	0.45550642
85	FLT3	0.45455586
86	PRKAA1	0.43498277
87	WNK1	0.42530573
88	DYRK1A	0.41846911
89	PKN1	0.41563554
90	BRD4	0.41227661
91	STK11	0.40899200
92	FGFR1	0.39947905
93	MAP2K4	0.39901098
94	PRKACB	0.39209509
95	PIK3CA	0.38043588
96	PRKACA	0.37410727
97	PHKG2	0.37191900
98	PHKG1	0.37191900
99	PRKDC	0.35952841
100	UHMK1	0.35894066

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.47460318
2	Fanconi anemia pathway_Homo sapiens_hsa03460	3.33360025
3	Homologous recombination_Homo sapiens_hsa03440	2.80175363
4	Non-homologous end-joining_Homo sapiens_hsa03450	2.68310999
5	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.63505847
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.53902697
7	Nicotine addiction_Homo sapiens_hsa05033	2.33127189
8	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.29894614
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.15754820
10	Phototransduction_Homo sapiens_hsa04744	2.12504743
11	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.03146594
12	Basal transcription factors_Homo sapiens_hsa03022	1.91778876
13	Taste transduction_Homo sapiens_hsa04742	1.87970283
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.85572201
15	Butanoate metabolism_Homo sapiens_hsa00650	1.80959790
16	Nitrogen metabolism_Homo sapiens_hsa00910	1.76792513
17	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.69080324
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.64422162
19	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.62799584
20	RNA polymerase_Homo sapiens_hsa03020	1.59004407
21	RNA degradation_Homo sapiens_hsa03018	1.54965676
22	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.52146742
23	One carbon pool by folate_Homo sapiens_hsa00670	1.44800968
24	Steroid biosynthesis_Homo sapiens_hsa00100	1.39276205
25	Propanoate metabolism_Homo sapiens_hsa00640	1.32487049
26	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.31094594
27	Linoleic acid metabolism_Homo sapiens_hsa00591	1.30117145
28	Morphine addiction_Homo sapiens_hsa05032	1.29595759
29	Protein export_Homo sapiens_hsa03060	1.27329174
30	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.25839474
31	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.20575413
32	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.20468391
33	Mismatch repair_Homo sapiens_hsa03430	1.20059090
34	Cocaine addiction_Homo sapiens_hsa05030	1.19558731
35	Ether lipid metabolism_Homo sapiens_hsa00565	1.15449468
36	GABAergic synapse_Homo sapiens_hsa04727	1.15180489
37	Base excision repair_Homo sapiens_hsa03410	1.12444293
38	RNA transport_Homo sapiens_hsa03013	1.12281312
39	Alcoholism_Homo sapiens_hsa05034	1.08627816
40	Basal cell carcinoma_Homo sapiens_hsa05217	1.08248387
41	Lysine degradation_Homo sapiens_hsa00310	1.05987436
42	Circadian rhythm_Homo sapiens_hsa04710	1.04559379
43	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.03195318
44	Olfactory transduction_Homo sapiens_hsa04740	1.00713574
45	Peroxisome_Homo sapiens_hsa04146	1.00645182
46	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.99785211
47	Glutamatergic synapse_Homo sapiens_hsa04724	0.97577119
48	Nucleotide excision repair_Homo sapiens_hsa03420	0.96460919
49	ABC transporters_Homo sapiens_hsa02010	0.95933621
50	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.94878234
51	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.93143761
52	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.89273666
53	Hippo signaling pathway_Homo sapiens_hsa04390	0.89209791
54	Circadian entrainment_Homo sapiens_hsa04713	0.87708333
55	Tryptophan metabolism_Homo sapiens_hsa00380	0.84785545
56	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.83109095
57	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.82483163
58	Pyrimidine metabolism_Homo sapiens_hsa00240	0.80793101
59	Sulfur relay system_Homo sapiens_hsa04122	0.80746921
60	Purine metabolism_Homo sapiens_hsa00230	0.80425760
61	Cell cycle_Homo sapiens_hsa04110	0.79737304
62	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.76396239
63	Regulation of autophagy_Homo sapiens_hsa04140	0.75687076
64	Calcium signaling pathway_Homo sapiens_hsa04020	0.71101331
65	Caffeine metabolism_Homo sapiens_hsa00232	0.70992709
66	Amphetamine addiction_Homo sapiens_hsa05031	0.69102737
67	Spliceosome_Homo sapiens_hsa03040	0.68772768
68	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.68658551
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.66503500
70	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.66207568
71	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.64206634
72	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.64117838
73	Parkinsons disease_Homo sapiens_hsa05012	0.63438583
74	DNA replication_Homo sapiens_hsa03030	0.62579799
75	Oxidative phosphorylation_Homo sapiens_hsa00190	0.61308497
76	mRNA surveillance pathway_Homo sapiens_hsa03015	0.59410169
77	Dopaminergic synapse_Homo sapiens_hsa04728	0.59201491
78	Serotonergic synapse_Homo sapiens_hsa04726	0.58997356
79	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.58895754
80	Axon guidance_Homo sapiens_hsa04360	0.57785675
81	Glycerolipid metabolism_Homo sapiens_hsa00561	0.55814803
82	Huntingtons disease_Homo sapiens_hsa05016	0.55436666
83	Insulin secretion_Homo sapiens_hsa04911	0.54583251
84	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.52968040
85	Cholinergic synapse_Homo sapiens_hsa04725	0.50950879
86	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.49817223
87	Oocyte meiosis_Homo sapiens_hsa04114	0.47844891
88	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.45912557
89	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.45545439
90	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.45095812
91	Metabolic pathways_Homo sapiens_hsa01100	0.43969614
92	Fatty acid metabolism_Homo sapiens_hsa01212	0.43461112
93	beta-Alanine metabolism_Homo sapiens_hsa00410	0.42102153
94	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.39754833
95	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.39246998
96	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.37775405
97	Fatty acid degradation_Homo sapiens_hsa00071	0.35409234
98	Wnt signaling pathway_Homo sapiens_hsa04310	0.35032039
99	p53 signaling pathway_Homo sapiens_hsa04115	0.34154897
100	Primary immunodeficiency_Homo sapiens_hsa05340	0.34153681

ZNF594

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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