ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.10111786
2	C4-dicarboxylate transport (GO:0015740)	4.02867134
3	replication fork processing (GO:0031297)	3.99454052
4	gamma-aminobutyric acid transport (GO:0015812)	3.87542422
5	protein polyglutamylation (GO:0018095)	3.79236736
6	respiratory chain complex IV assembly (GO:0008535)	3.70609049
7	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.65201234
8	cytochrome complex assembly (GO:0017004)	3.62373360
9	protein localization to cilium (GO:0061512)	3.60819368
10	single strand break repair (GO:0000012)	3.46755681
11	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.40530078
12	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.31015743
13	epithelial cilium movement (GO:0003351)	3.25919434
14	negative regulation of telomere maintenance (GO:0032205)	3.20227497
15	pyrimidine nucleobase catabolic process (GO:0006208)	3.18778384
16	protein complex biogenesis (GO:0070271)	3.18364165
17	nephron epithelium morphogenesis (GO:0072088)	3.15057304
18	nephron tubule morphogenesis (GO:0072078)	3.15057304
19	regulation of telomere maintenance (GO:0032204)	3.13048895
20	detection of light stimulus involved in sensory perception (GO:0050962)	3.11210881
21	detection of light stimulus involved in visual perception (GO:0050908)	3.11210881
22	intraciliary transport (GO:0042073)	3.06094726
23	neuronal action potential propagation (GO:0019227)	3.05202894
24	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.98222527
25	mitochondrial respiratory chain complex assembly (GO:0033108)	2.94451133
26	regulation of phospholipase A2 activity (GO:0032429)	2.93599449
27	negative regulation of Rho protein signal transduction (GO:0035024)	2.93460944
28	acrosome reaction (GO:0007340)	2.93014394
29	response to pheromone (GO:0019236)	2.92437839
30	cilium assembly (GO:0042384)	2.92170629
31	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.91719203
32	NADH dehydrogenase complex assembly (GO:0010257)	2.91719203
33	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.91719203
34	cilium organization (GO:0044782)	2.91649705
35	resolution of meiotic recombination intermediates (GO:0000712)	2.89488352
36	protein localization to Golgi apparatus (GO:0034067)	2.89176339
37	kidney morphogenesis (GO:0060993)	2.88404557
38	centriole replication (GO:0007099)	2.87906308
39	DNA integration (GO:0015074)	2.85295196
40	indole-containing compound catabolic process (GO:0042436)	2.82391912
41	indolalkylamine catabolic process (GO:0046218)	2.82391912
42	tryptophan catabolic process (GO:0006569)	2.82391912
43	retinal ganglion cell axon guidance (GO:0031290)	2.81609698
44	postsynaptic membrane organization (GO:0001941)	2.80763615
45	seminiferous tubule development (GO:0072520)	2.78856112
46	nucleobase catabolic process (GO:0046113)	2.78442044
47	pyrimidine dimer repair (GO:0006290)	2.77287465
48	nonmotile primary cilium assembly (GO:0035058)	2.75216976
49	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.73344378
50	positive regulation of glycolytic process (GO:0045821)	2.72183827
51	sulfation (GO:0051923)	2.70929298
52	L-fucose metabolic process (GO:0042354)	2.68296563
53	L-fucose catabolic process (GO:0042355)	2.68296563
54	fucose catabolic process (GO:0019317)	2.68296563
55	reciprocal DNA recombination (GO:0035825)	2.68065005
56	reciprocal meiotic recombination (GO:0007131)	2.68065005
57	brain morphogenesis (GO:0048854)	2.65709415
58	DNA double-strand break processing (GO:0000729)	2.64339106
59	glycerophospholipid catabolic process (GO:0046475)	2.63154797
60	sperm motility (GO:0030317)	2.60582545
61	inositol metabolic process (GO:0006020)	2.57870876
62	synapsis (GO:0007129)	2.57399126
63	regulation of hexokinase activity (GO:1903299)	2.57207776
64	regulation of glucokinase activity (GO:0033131)	2.57207776
65	cellular ketone body metabolic process (GO:0046950)	2.57094561
66	axoneme assembly (GO:0035082)	2.56194403
67	positive regulation of mitochondrial fission (GO:0090141)	2.56035362
68	cilium movement (GO:0003341)	2.54878503
69	negative regulation of axon extension involved in axon guidance (GO:0048843)	2.53911770
70	reflex (GO:0060004)	2.53476540
71	regulation of respiratory system process (GO:0044065)	2.53341890
72	exocrine pancreas development (GO:0031017)	2.52313492
73	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.51607896
74	kynurenine metabolic process (GO:0070189)	2.50881523
75	glycosphingolipid biosynthetic process (GO:0006688)	2.48397935
76	cornea development in camera-type eye (GO:0061303)	2.46833847
77	phasic smooth muscle contraction (GO:0014821)	2.46513175
78	photoreceptor cell maintenance (GO:0045494)	2.43474341
79	neuronal action potential (GO:0019228)	2.42636345
80	negative regulation of axon guidance (GO:1902668)	2.38564958
81	viral mRNA export from host cell nucleus (GO:0046784)	2.38398210
82	cardiac right ventricle morphogenesis (GO:0003215)	2.38191748
83	cilium morphogenesis (GO:0060271)	2.35904974
84	tryptophan metabolic process (GO:0006568)	2.35888100
85	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.35576553
86	regulation of translation, ncRNA-mediated (GO:0045974)	2.35576553
87	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.35576553
88	mannosylation (GO:0097502)	2.34765475
89	renal tubule morphogenesis (GO:0061333)	2.32261656
90	indolalkylamine metabolic process (GO:0006586)	2.31894022
91	protein localization to synapse (GO:0035418)	2.29633128
92	microtubule severing (GO:0051013)	2.27914470
93	ketone body metabolic process (GO:1902224)	2.25565225
94	cellular biogenic amine catabolic process (GO:0042402)	2.23830225
95	amine catabolic process (GO:0009310)	2.23830225
96	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	2.23060655
97	translesion synthesis (GO:0019985)	2.21539847
98	calcium ion-dependent exocytosis (GO:0017156)	2.21536059
99	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.21361519
100	regulation of DNA endoreduplication (GO:0032875)	2.21264559

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.08512156
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.94862200
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.12355269
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.87181631
5	VDR_22108803_ChIP-Seq_LS180_Human	2.85313100
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.72495132
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.35465022
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.23273379
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.21291467
10	IRF1_19129219_ChIP-ChIP_H3396_Human	2.19720205
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.16847345
12	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.16057541
13	FUS_26573619_Chip-Seq_HEK293_Human	2.09871333
14	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.04128543
15	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.02500920
16	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.94352862
17	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.92417390
18	P300_19829295_ChIP-Seq_ESCs_Human	1.75702222
19	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.70963681
20	EZH2_22144423_ChIP-Seq_EOC_Human	1.64977759
21	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.64235912
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.63176909
23	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.60842709
24	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.57565484
25	CBP_20019798_ChIP-Seq_JUKART_Human	1.56238743
26	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56238743
27	EWS_26573619_Chip-Seq_HEK293_Human	1.54850461
28	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.53953709
29	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.52275470
30	SMAD4_21799915_ChIP-Seq_A2780_Human	1.51508111
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.50076399
32	REST_21632747_ChIP-Seq_MESCs_Mouse	1.48455829
33	STAT3_23295773_ChIP-Seq_U87_Human	1.47600146
34	AR_21572438_ChIP-Seq_LNCaP_Human	1.47359345
35	BCAT_22108803_ChIP-Seq_LS180_Human	1.45163786
36	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.44723055
37	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.42875740
38	AR_25329375_ChIP-Seq_VCAP_Human	1.38738271
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.35364504
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.34769801
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.34761434
42	TCF4_23295773_ChIP-Seq_U87_Human	1.33490977
43	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.31398644
44	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.29713197
45	HOXB7_26014856_ChIP-Seq_BT474_Human	1.28690112
46	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27024516
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.25751238
48	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.24716319
49	TP53_22573176_ChIP-Seq_HFKS_Human	1.22968487
50	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.22944140
51	RUNX2_22187159_ChIP-Seq_PCA_Human	1.22918218
52	TAF15_26573619_Chip-Seq_HEK293_Human	1.21803940
53	MYC_18940864_ChIP-ChIP_HL60_Human	1.21250495
54	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.20724738
55	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.20588456
56	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19865731
57	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.18471576
58	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16945563
59	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.14632591
60	NCOR_22424771_ChIP-Seq_293T_Human	1.13959097
61	RNF2_27304074_Chip-Seq_NSC_Mouse	1.13754852
62	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.13084902
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.12646429
64	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.11675060
65	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.11675060
66	* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.11512813
67	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.11401071
68	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.09904665
69	* NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.09801883
70	* GABP_17652178_ChIP-ChIP_JURKAT_Human	1.08009975
71	TCF4_22108803_ChIP-Seq_LS180_Human	1.07203067
72	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.07152650
73	SOX2_19829295_ChIP-Seq_ESCs_Human	1.06895336
74	NANOG_19829295_ChIP-Seq_ESCs_Human	1.06895336
75	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.06774935
76	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.06058740
77	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.04510406
78	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.04425079
79	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.04097326
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.03806669
81	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.02295483
82	HTT_18923047_ChIP-ChIP_STHdh_Human	1.01830851
83	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.01818206
84	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.00710382
85	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.00680726
86	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.00229419
87	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.99820677
88	* EST1_17652178_ChIP-ChIP_JURKAT_Human	0.98134979
89	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.95280019
90	ERA_21632823_ChIP-Seq_H3396_Human	0.94879711
91	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.94092978
92	* NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	0.93672227
93	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.92016812
94	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.91390286
95	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.91076917
96	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.90394135
97	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.90218440
98	* E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.89905575
99	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.89694910
100	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.88925345

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.49835544
2	MP0008877_abnormal_DNA_methylation	2.79081041
3	MP0002638_abnormal_pupillary_reflex	2.45660082
4	MP0003122_maternal_imprinting	2.43554575
5	MP0003787_abnormal_imprinting	2.41322809
6	MP0004133_heterotaxia	2.39807543
7	MP0002254_reproductive_system_inflammat	2.20708687
8	MP0006292_abnormal_olfactory_placode	2.19146344
9	MP0009780_abnormal_chondrocyte_physiolo	2.10374054
10	MP0006054_spinal_hemorrhage	2.01426371
11	MP0003195_calcinosis	1.93025142
12	MP0002938_white_spotting	1.91946430
13	MP0002837_dystrophic_cardiac_calcinosis	1.91489610
14	MP0000569_abnormal_digit_pigmentation	1.90820818
15	MP0005551_abnormal_eye_electrophysiolog	1.85750168
16	MP0004147_increased_porphyrin_level	1.85692030
17	MP0001968_abnormal_touch/_nociception	1.80028211
18	MP0008875_abnormal_xenobiotic_pharmacok	1.76399363
19	MP0008872_abnormal_physiological_respon	1.75649658
20	MP0006276_abnormal_autonomic_nervous	1.75621317
21	MP0005646_abnormal_pituitary_gland	1.74634041
22	MP0009046_muscle_twitch	1.71960485
23	MP0002132_abnormal_respiratory_system	1.71761390
24	MP0001661_extended_life_span	1.70257634
25	MP0001986_abnormal_taste_sensitivity	1.69044540
26	MP0004885_abnormal_endolymph	1.62371197
27	MP0003121_genomic_imprinting	1.57908413
28	MP0008058_abnormal_DNA_repair	1.53215835
29	MP0000427_abnormal_hair_cycle	1.52298960
30	MP0005365_abnormal_bile_salt	1.51508841
31	MP0004043_abnormal_pH_regulation	1.46827138
32	MP0002160_abnormal_reproductive_system	1.46499769
33	MP0002234_abnormal_pharynx_morphology	1.43905574
34	MP0000631_abnormal_neuroendocrine_gland	1.43341628
35	MP0006072_abnormal_retinal_apoptosis	1.41517937
36	MP0001486_abnormal_startle_reflex	1.36824187
37	MP0002557_abnormal_social/conspecific_i	1.35390518
38	MP0002876_abnormal_thyroid_physiology	1.30083254
39	MP0001502_abnormal_circadian_rhythm	1.28283320
40	MP0005253_abnormal_eye_physiology	1.26745615
41	MP0003950_abnormal_plasma_membrane	1.26076904
42	MP0001984_abnormal_olfaction	1.24128072
43	MP0008995_early_reproductive_senescence	1.21505989
44	MP0002272_abnormal_nervous_system	1.16793053
45	MP0000383_abnormal_hair_follicle	1.16166144
46	MP0004142_abnormal_muscle_tone	1.14728834
47	MP0001529_abnormal_vocalization	1.14587357
48	MP0003698_abnormal_male_reproductive	1.13661784
49	MP0003880_abnormal_central_pattern	1.13070949
50	MP0004859_abnormal_synaptic_plasticity	1.09769094
51	MP0008789_abnormal_olfactory_epithelium	1.08228297
52	MP0009745_abnormal_behavioral_response	1.08226737
53	MP0000647_abnormal_sebaceous_gland	1.08079990
54	MP0000778_abnormal_nervous_system	1.04890011
55	MP0005410_abnormal_fertilization	1.03445312
56	MP0003635_abnormal_synaptic_transmissio	1.00983449
57	MP0002064_seizures	0.99674250
58	MP0006035_abnormal_mitochondrial_morpho	0.99575721
59	MP0005386_behavior/neurological_phenoty	0.99448261
60	MP0004924_abnormal_behavior	0.99448261
61	MP0005083_abnormal_biliary_tract	0.98523600
62	MP0005389_reproductive_system_phenotype	0.97364806
63	MP0001929_abnormal_gametogenesis	0.96684517
64	MP0002928_abnormal_bile_duct	0.96638860
65	MP0001764_abnormal_homeostasis	0.95899343
66	MP0010368_abnormal_lymphatic_system	0.94320584
67	MP0005394_taste/olfaction_phenotype	0.94032783
68	MP0005499_abnormal_olfactory_system	0.94032783
69	MP0002572_abnormal_emotion/affect_behav	0.91426965
70	MP0003011_delayed_dark_adaptation	0.91343685
71	MP0001293_anophthalmia	0.89683942
72	MP0000049_abnormal_middle_ear	0.89121897
73	MP0005377_hearing/vestibular/ear_phenot	0.88007071
74	MP0003878_abnormal_ear_physiology	0.88007071
75	MP0001270_distended_abdomen	0.87887177
76	MP0003942_abnormal_urinary_system	0.87748361
77	MP0002653_abnormal_ependyma_morphology	0.87566455
78	MP0002822_catalepsy	0.87372631
79	MP0000653_abnormal_sex_gland	0.83582848
80	MP0002736_abnormal_nociception_after	0.83362459
81	MP0002734_abnormal_mechanical_nocicepti	0.83234685
82	MP0002735_abnormal_chemical_nociception	0.83214863
83	MP0002752_abnormal_somatic_nervous	0.82399447
84	MP0003119_abnormal_digestive_system	0.81839387
85	MP0008775_abnormal_heart_ventricle	0.80423773
86	MP0001145_abnormal_male_reproductive	0.79774881
87	MP0006036_abnormal_mitochondrial_physio	0.79614920
88	MP0010386_abnormal_urinary_bladder	0.79506574
89	MP0002210_abnormal_sex_determination	0.78530388
90	MP0002127_abnormal_cardiovascular_syste	0.77611466
91	MP0000013_abnormal_adipose_tissue	0.77546415
92	MP0000026_abnormal_inner_ear	0.76904456
93	MP0001485_abnormal_pinna_reflex	0.76534837
94	MP0004270_analgesia	0.76195403
95	MP0005195_abnormal_posterior_eye	0.75673829
96	MP0002909_abnormal_adrenal_gland	0.74801580
97	MP0002184_abnormal_innervation	0.74271464
98	MP0002063_abnormal_learning/memory/cond	0.73918877
99	MP0003137_abnormal_impulse_conducting	0.73000454
100	MP0010329_abnormal_lipoprotein_level	0.72834359

Predicted human phenotypes

Rank	Gene Set	Z-score
1	True hermaphroditism (HP:0010459)	3.98185853
2	Pancreatic fibrosis (HP:0100732)	3.96611239
3	Pancreatic cysts (HP:0001737)	3.70987818
4	Nephronophthisis (HP:0000090)	3.39751773
5	Type II lissencephaly (HP:0007260)	3.29887636
6	Medial flaring of the eyebrow (HP:0010747)	3.28181707
7	Hypoplastic iliac wings (HP:0002866)	3.14594158
8	Bile duct proliferation (HP:0001408)	3.02484408
9	Abnormal biliary tract physiology (HP:0012439)	3.02484408
10	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.99082087
11	Gait imbalance (HP:0002141)	2.96186845
12	Asplenia (HP:0001746)	2.92520957
13	Protruding tongue (HP:0010808)	2.91751272
14	Polydipsia (HP:0001959)	2.91440418
15	Abnormal drinking behavior (HP:0030082)	2.91440418
16	Abnormality of the renal medulla (HP:0100957)	2.89113888
17	Congenital primary aphakia (HP:0007707)	2.79188542
18	Nephrogenic diabetes insipidus (HP:0009806)	2.75636310
19	Abnormality of midbrain morphology (HP:0002418)	2.74358996
20	Molar tooth sign on MRI (HP:0002419)	2.74358996
21	Cystic liver disease (HP:0006706)	2.71178484
22	Hyperinsulinemic hypoglycemia (HP:0000825)	2.62814172
23	Polyphagia (HP:0002591)	2.61769256
24	Cerebellar dysplasia (HP:0007033)	2.58533363
25	Genital tract atresia (HP:0001827)	2.46040738
26	Abnormality of dental color (HP:0011073)	2.42186310
27	Vaginal atresia (HP:0000148)	2.41843069
28	Severe muscular hypotonia (HP:0006829)	2.40981856
29	Hyperventilation (HP:0002883)	2.39526996
30	Abnormal urine output (HP:0012590)	2.36938090
31	Hepatocellular necrosis (HP:0001404)	2.35345334
32	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.32294323
33	Chronic hepatic failure (HP:0100626)	2.31645449
34	Anencephaly (HP:0002323)	2.24190062
35	Polyuria (HP:0000103)	2.23814033
36	Hypoglycemic seizures (HP:0002173)	2.16728232
37	Congenital stationary night blindness (HP:0007642)	2.14313428
38	Febrile seizures (HP:0002373)	2.12659618
39	Sclerocornea (HP:0000647)	2.09721400
40	Occipital encephalocele (HP:0002085)	2.08502687
41	Abnormality of the renal cortex (HP:0011035)	2.07356162
42	Abnormal rod and cone electroretinograms (HP:0008323)	2.07130052
43	Hypomagnesemia (HP:0002917)	2.06890489
44	Disproportionate short-trunk short stature (HP:0003521)	2.06541165
45	Postaxial foot polydactyly (HP:0001830)	2.06404543
46	Ketoacidosis (HP:0001993)	2.06328119
47	Short middle phalanx of the 5th finger (HP:0004220)	2.06181868
48	Hepatic necrosis (HP:0002605)	2.05515767
49	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.05473709
50	Acanthocytosis (HP:0001927)	2.05147834
51	Abolished electroretinogram (ERG) (HP:0000550)	2.04561700
52	Abnormality of renal excretion (HP:0011036)	2.03340290
53	Congenital hepatic fibrosis (HP:0002612)	2.02405148
54	Poor coordination (HP:0002370)	1.99720171
55	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	1.98187557
56	Degeneration of the lateral corticospinal tracts (HP:0002314)	1.98187557
57	Male pseudohermaphroditism (HP:0000037)	1.97821409
58	Supernumerary spleens (HP:0009799)	1.93830647
59	Abnormality of the pons (HP:0007361)	1.93507052
60	Hypoplasia of the pons (HP:0012110)	1.93497839
61	Pancreatic islet-cell hyperplasia (HP:0004510)	1.92767018
62	Intestinal atresia (HP:0011100)	1.92079532
63	Increased circulating renin level (HP:0000848)	1.91745584
64	Pendular nystagmus (HP:0012043)	1.91507438
65	Lissencephaly (HP:0001339)	1.91097309
66	Dandy-Walker malformation (HP:0001305)	1.90831239
67	Increased CSF lactate (HP:0002490)	1.90120334
68	Sloping forehead (HP:0000340)	1.88178876
69	Acute necrotizing encephalopathy (HP:0006965)	1.88113188
70	Large for gestational age (HP:0001520)	1.87619679
71	Adrenal hypoplasia (HP:0000835)	1.87495607
72	Attenuation of retinal blood vessels (HP:0007843)	1.85979583
73	Epidermoid cyst (HP:0200040)	1.85056763
74	Abnormality of the wing of the ilium (HP:0011867)	1.84151579
75	Abnormal protein glycosylation (HP:0012346)	1.83792961
76	Abnormal glycosylation (HP:0012345)	1.83792961
77	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.83792961
78	Abnormal protein N-linked glycosylation (HP:0012347)	1.83792961
79	Abnormality of endocrine pancreas physiology (HP:0012093)	1.83459842
80	Abnormality of the pancreatic islet cells (HP:0006476)	1.83459842
81	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.83108310
82	Hypothermia (HP:0002045)	1.82849372
83	Abnormality of the ileum (HP:0001549)	1.80978576
84	Focal seizures (HP:0007359)	1.78558617
85	Retinal atrophy (HP:0001105)	1.77029993
86	Aganglionic megacolon (HP:0002251)	1.76081682
87	Abnormality of the phalanges of the 5th finger (HP:0004213)	1.75510833
88	Atonic seizures (HP:0010819)	1.74259783
89	Ketosis (HP:0001946)	1.74005017
90	Meckel diverticulum (HP:0002245)	1.73972466
91	Progressive macrocephaly (HP:0004481)	1.73618297
92	Postaxial hand polydactyly (HP:0001162)	1.73612165
93	Constricted visual fields (HP:0001133)	1.72111836
94	Gonadotropin excess (HP:0000837)	1.69360028
95	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.67983142
96	Mitochondrial inheritance (HP:0001427)	1.67959255
97	Abnormality of the duodenum (HP:0002246)	1.66842711
98	Small intestinal stenosis (HP:0012848)	1.66165798
99	Duodenal stenosis (HP:0100867)	1.66165798
100	Oligohydramnios (HP:0001562)	1.65869083

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK4	3.84498037
2	FRK	3.48035082
3	STK39	3.37571403
4	OXSR1	2.87665994
5	WNK3	2.86430471
6	ZAK	2.85428225
7	MAP3K4	2.56178908
8	MAP2K7	2.55594664
9	MAP4K2	2.48850272
10	PINK1	2.45646111
11	INSRR	2.35891671
12	TNIK	2.09865882
13	DAPK2	2.07322432
14	CASK	1.94354436
15	MAP3K9	1.89294080
16	PHKG2	1.83254522
17	PHKG1	1.83254522
18	NUAK1	1.77784745
19	ADRBK2	1.68065436
20	TLK1	1.64295500
21	MAPK13	1.56111371
22	MARK1	1.55269343
23	BMPR1B	1.54725895
24	FGFR2	1.46484829
25	CSNK1G3	1.44054520
26	PDK2	1.43738203
27	CSNK1G1	1.40644090
28	GRK1	1.35877512
29	MAP2K4	1.34329607
30	MAP3K6	1.33734786
31	NTRK2	1.31872848
32	CDK19	1.30716721
33	NTRK3	1.27939163
34	CSNK1G2	1.27262451
35	CSNK1A1L	1.26522432
36	SIK2	1.26130231
37	PAK3	1.12677501
38	PLK2	1.09967699
39	DYRK2	1.00647804
40	PLK4	1.00538787
41	LATS1	0.98662035
42	EPHA4	0.98006412
43	DYRK1A	0.95088957
44	PRKCE	0.91479514
45	DYRK3	0.88015776
46	NEK2	0.87788618
47	STK38L	0.85002170
48	PRKCG	0.83588298
49	MAP2K6	0.82917101
50	BRSK2	0.79423189
51	OBSCN	0.77774198
52	PIK3CA	0.72675621
53	MKNK2	0.71704775
54	BCKDK	0.69226384
55	FLT3	0.68126674
56	ADRBK1	0.65660014
57	TAOK3	0.65615394
58	TRIM28	0.65213431
59	PRKAA1	0.59780666
60	STK16	0.57431983
61	PTK2B	0.57198177
62	AKT3	0.55316887
63	MAP3K7	0.55176680
64	TIE1	0.54758271
65	BCR	0.54145345
66	CSNK1D	0.54113453
67	TAF1	0.53777591
68	VRK1	0.52927609
69	MET	0.50512851
70	CDK3	0.50287672
71	PKN1	0.49290095
72	STK3	0.48853032
73	NLK	0.48639662
74	BRSK1	0.47214140
75	SGK223	0.47082022
76	SGK494	0.47082022
77	ERBB2	0.46022146
78	CSNK1A1	0.45239522
79	RPS6KA5	0.39731238
80	CHEK2	0.39037070
81	ATM	0.38496151
82	ATR	0.38233797
83	PLK1	0.36791218
84	PASK	0.36733679
85	PNCK	0.36729652
86	CSNK1E	0.36348079
87	SGK2	0.35403027
88	PRKAA2	0.35191922
89	PRKCI	0.35052982
90	PRKDC	0.34615748
91	PRKACA	0.34476270
92	PRKCZ	0.33832149
93	ACVR1B	0.32287818
94	CAMK2D	0.31911094
95	MUSK	0.31019863
96	MINK1	0.30725712
97	PRKCA	0.30533845
98	TNK2	0.30115468
99	CDK5	0.29914272
100	DAPK3	0.29343860

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.38031139
2	Fanconi anemia pathway_Homo sapiens_hsa03460	2.48462995
3	Butanoate metabolism_Homo sapiens_hsa00650	2.45643889
4	Phototransduction_Homo sapiens_hsa04744	2.20849227
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.06749780
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.03447568
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.00815235
8	Selenocompound metabolism_Homo sapiens_hsa00450	2.00320083
9	Propanoate metabolism_Homo sapiens_hsa00640	1.97179998
10	Steroid biosynthesis_Homo sapiens_hsa00100	1.96099536
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.77249028
12	Caffeine metabolism_Homo sapiens_hsa00232	1.74280354
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.73177272
14	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.73100129
15	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.72920873
16	Nicotine addiction_Homo sapiens_hsa05033	1.72554016
17	Linoleic acid metabolism_Homo sapiens_hsa00591	1.71754741
18	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.67630369
19	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.67058647
20	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.65105705
21	Insulin secretion_Homo sapiens_hsa04911	1.58045392
22	Basal transcription factors_Homo sapiens_hsa03022	1.52356646
23	Fatty acid elongation_Homo sapiens_hsa00062	1.47508143
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.47163867
25	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.45317210
26	Homologous recombination_Homo sapiens_hsa03440	1.38871193
27	Olfactory transduction_Homo sapiens_hsa04740	1.37645981
28	Peroxisome_Homo sapiens_hsa04146	1.34925157
29	Collecting duct acid secretion_Homo sapiens_hsa04966	1.34206155
30	Ether lipid metabolism_Homo sapiens_hsa00565	1.33986778
31	Taste transduction_Homo sapiens_hsa04742	1.32409358
32	Fatty acid metabolism_Homo sapiens_hsa01212	1.30703326
33	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.30634537
34	Non-homologous end-joining_Homo sapiens_hsa03450	1.30021915
35	beta-Alanine metabolism_Homo sapiens_hsa00410	1.25579606
36	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.16488599
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.16373672
38	ABC transporters_Homo sapiens_hsa02010	1.15700300
39	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.14508725
40	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.08426138
41	Chemical carcinogenesis_Homo sapiens_hsa05204	1.06375949
42	Regulation of autophagy_Homo sapiens_hsa04140	1.06224322
43	Oxidative phosphorylation_Homo sapiens_hsa00190	1.04615048
44	Lysine degradation_Homo sapiens_hsa00310	1.03794987
45	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.99836705
46	Fatty acid degradation_Homo sapiens_hsa00071	0.96967854
47	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.96214722
48	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.95843322
49	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.94354378
50	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.92713822
51	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.90259829
52	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.88128860
53	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.85332512
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.85095224
55	Base excision repair_Homo sapiens_hsa03410	0.83368982
56	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.83119757
57	Fat digestion and absorption_Homo sapiens_hsa04975	0.81031326
58	Circadian entrainment_Homo sapiens_hsa04713	0.77671887
59	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.77530288
60	Circadian rhythm_Homo sapiens_hsa04710	0.77423079
61	Glycerolipid metabolism_Homo sapiens_hsa00561	0.77344390
62	RNA polymerase_Homo sapiens_hsa03020	0.77151894
63	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.74357152
64	Metabolic pathways_Homo sapiens_hsa01100	0.73423013
65	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.73390442
66	GABAergic synapse_Homo sapiens_hsa04727	0.71029377
67	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.70349834
68	Salivary secretion_Homo sapiens_hsa04970	0.69915076
69	Glutamatergic synapse_Homo sapiens_hsa04724	0.69764387
70	Basal cell carcinoma_Homo sapiens_hsa05217	0.69624872
71	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.67092657
72	Arginine and proline metabolism_Homo sapiens_hsa00330	0.66324021
73	Alcoholism_Homo sapiens_hsa05034	0.65578118
74	Axon guidance_Homo sapiens_hsa04360	0.64842787
75	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.64815211
76	Morphine addiction_Homo sapiens_hsa05032	0.64450488
77	Cocaine addiction_Homo sapiens_hsa05030	0.63652058
78	Calcium signaling pathway_Homo sapiens_hsa04020	0.63001177
79	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.61442865
80	Sphingolipid metabolism_Homo sapiens_hsa00600	0.61311716
81	Dopaminergic synapse_Homo sapiens_hsa04728	0.60742216
82	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.59411005
83	Type II diabetes mellitus_Homo sapiens_hsa04930	0.58740468
84	Amphetamine addiction_Homo sapiens_hsa05031	0.56769473
85	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.56671680
86	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.56469656
87	Renin secretion_Homo sapiens_hsa04924	0.55327719
88	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.54527953
89	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.54165944
90	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.52089888
91	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.48405469
92	Cardiac muscle contraction_Homo sapiens_hsa04260	0.47645555
93	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.47554983
94	RNA degradation_Homo sapiens_hsa03018	0.47258409
95	One carbon pool by folate_Homo sapiens_hsa00670	0.44369239
96	Pyruvate metabolism_Homo sapiens_hsa00620	0.42464521
97	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.42387318
98	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.42297124
99	Retinol metabolism_Homo sapiens_hsa00830	0.41701697
100	Glucagon signaling pathway_Homo sapiens_hsa04922	0.41330222

ZNF133

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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