ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	6.24928825
2	fucose catabolic process (GO:0019317)	4.72249079
3	L-fucose metabolic process (GO:0042354)	4.72249079
4	L-fucose catabolic process (GO:0042355)	4.72249079
5	DNA deamination (GO:0045006)	4.13722657
6	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.92197229
7	negative regulation of telomere maintenance (GO:0032205)	3.90299398
8	cellular ketone body metabolic process (GO:0046950)	3.74704060
9	kidney morphogenesis (GO:0060993)	3.72694887
10	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.62617350
11	response to pheromone (GO:0019236)	3.58331727
12	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.47015779
13	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.47015779
14	NADH dehydrogenase complex assembly (GO:0010257)	3.47015779
15	ketone body metabolic process (GO:1902224)	3.36441285
16	epithelial cilium movement (GO:0003351)	3.34923541
17	nephron tubule morphogenesis (GO:0072078)	3.34515401
18	nephron epithelium morphogenesis (GO:0072088)	3.34515401
19	nonmotile primary cilium assembly (GO:0035058)	3.24564766
20	protein complex biogenesis (GO:0070271)	3.23670879
21	detection of light stimulus involved in visual perception (GO:0050908)	3.22610257
22	detection of light stimulus involved in sensory perception (GO:0050962)	3.22610257
23	platelet dense granule organization (GO:0060155)	3.21524666
24	mitochondrial respiratory chain complex assembly (GO:0033108)	3.10528104
25	indolalkylamine metabolic process (GO:0006586)	3.09306915
26	neural tube formation (GO:0001841)	3.09199103
27	water-soluble vitamin biosynthetic process (GO:0042364)	3.04446055
28	sulfation (GO:0051923)	3.01360710
29	protein polyglutamylation (GO:0018095)	2.97470320
30	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.95094625
31	regulation of translation, ncRNA-mediated (GO:0045974)	2.95094625
32	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.95094625
33	protein localization to cilium (GO:0061512)	2.92877754
34	kynurenine metabolic process (GO:0070189)	2.92503954
35	reciprocal meiotic recombination (GO:0007131)	2.91247138
36	reciprocal DNA recombination (GO:0035825)	2.91247138
37	spinal cord motor neuron differentiation (GO:0021522)	2.89414922
38	respiratory chain complex IV assembly (GO:0008535)	2.88997594
39	regulation of hexokinase activity (GO:1903299)	2.86120167
40	regulation of glucokinase activity (GO:0033131)	2.86120167
41	synaptic transmission, cholinergic (GO:0007271)	2.86022860
42	regulation of telomere maintenance (GO:0032204)	2.85783438
43	gamma-aminobutyric acid transport (GO:0015812)	2.85069635
44	neuronal action potential (GO:0019228)	2.84520956
45	indole-containing compound catabolic process (GO:0042436)	2.84146446
46	indolalkylamine catabolic process (GO:0046218)	2.84146446
47	tryptophan catabolic process (GO:0006569)	2.84146446
48	somite development (GO:0061053)	2.81999317
49	startle response (GO:0001964)	2.81390168
50	primary amino compound metabolic process (GO:1901160)	2.79726789
51	regulation of action potential (GO:0098900)	2.79577575
52	cilium morphogenesis (GO:0060271)	2.77691601
53	preassembly of GPI anchor in ER membrane (GO:0016254)	2.77597201
54	regulation of mesoderm development (GO:2000380)	2.77467860
55	cilium organization (GO:0044782)	2.72868324
56	serotonin metabolic process (GO:0042428)	2.70642043
57	cilium movement (GO:0003341)	2.70464142
58	reflex (GO:0060004)	2.68757822
59	axoneme assembly (GO:0035082)	2.67645756
60	somite rostral/caudal axis specification (GO:0032525)	2.67642335
61	protein-cofactor linkage (GO:0018065)	2.67597396
62	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.63940780
63	cilium assembly (GO:0042384)	2.62288658
64	negative regulation of mast cell activation (GO:0033004)	2.60257083
65	cornea development in camera-type eye (GO:0061303)	2.59669482
66	indole-containing compound metabolic process (GO:0042430)	2.59224043
67	regulation of cilium movement (GO:0003352)	2.57949734
68	pyrimidine nucleobase catabolic process (GO:0006208)	2.57785140
69	renal tubule morphogenesis (GO:0061333)	2.57691647
70	peristalsis (GO:0030432)	2.53285285
71	behavioral response to ethanol (GO:0048149)	2.52942343
72	ubiquinone biosynthetic process (GO:0006744)	2.52743611
73	positive regulation of defense response to virus by host (GO:0002230)	2.52114846
74	tryptophan metabolic process (GO:0006568)	2.51719224
75	replication fork processing (GO:0031297)	2.50409004
76	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.48947072
77	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.47751500
78	cytochrome complex assembly (GO:0017004)	2.47636143
79	neuron fate determination (GO:0048664)	2.47138048
80	piRNA metabolic process (GO:0034587)	2.46019975
81	regulation of posttranscriptional gene silencing (GO:0060147)	2.44771001
82	regulation of gene silencing by miRNA (GO:0060964)	2.44771001
83	regulation of gene silencing by RNA (GO:0060966)	2.44771001
84	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.44146699
85	rRNA catabolic process (GO:0016075)	2.43028231
86	ubiquinone metabolic process (GO:0006743)	2.42743656
87	nucleobase catabolic process (GO:0046113)	2.42499070
88	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.42164145
89	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.41550079
90	ATP synthesis coupled proton transport (GO:0015986)	2.41550079
91	cell differentiation in spinal cord (GO:0021515)	2.38862176
92	fucosylation (GO:0036065)	2.37980376
93	urinary tract smooth muscle contraction (GO:0014848)	2.36728307
94	atrial cardiac muscle cell action potential (GO:0086014)	2.36641791
95	photoreceptor cell development (GO:0042461)	2.36414419
96	postsynaptic membrane organization (GO:0001941)	2.35902948
97	DNA demethylation (GO:0080111)	2.34897400
98	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.34536709
99	retinal cone cell development (GO:0046549)	2.32674471
100	transmission of nerve impulse (GO:0019226)	2.32057703

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.24241219
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.49117936
3	VDR_22108803_ChIP-Seq_LS180_Human	3.42412108
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.88295772
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.78181278
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.64480262
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.54020203
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.27947446
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.26311051
10	FUS_26573619_Chip-Seq_HEK293_Human	2.25126207
11	EWS_26573619_Chip-Seq_HEK293_Human	2.21487029
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.16263628
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09103349
14	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.05717940
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.01155298
16	* P300_19829295_ChIP-Seq_ESCs_Human	1.96276800
17	IGF1R_20145208_ChIP-Seq_DFB_Human	1.95588554
18	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.88820694
19	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.88515641
20	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.84631649
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.82666348
22	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.81925840
23	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.79319385
24	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.78012889
25	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.75586871
26	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.72148101
27	* MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.68051631
28	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.66067908
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.63191648
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.61299203
31	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.59060931
32	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.56774587
33	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56420423
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.54683340
35	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.53608353
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.52820163
37	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50338172
38	STAT3_23295773_ChIP-Seq_U87_Human	1.49791741
39	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.46479228
40	TP53_22573176_ChIP-Seq_HFKS_Human	1.46036126
41	RNF2_27304074_Chip-Seq_NSC_Mouse	1.45557053
42	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.44748288
43	SMAD4_21799915_ChIP-Seq_A2780_Human	1.42271140
44	CBP_20019798_ChIP-Seq_JUKART_Human	1.42116344
45	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.42116344
46	BCAT_22108803_ChIP-Seq_LS180_Human	1.42085803
47	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.42034363
48	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.41274653
49	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.41274653
50	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40135185
51	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.39836731
52	AR_25329375_ChIP-Seq_VCAP_Human	1.39123640
53	REST_21632747_ChIP-Seq_MESCs_Mouse	1.38811371
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.35143080
55	TCF4_23295773_ChIP-Seq_U87_Human	1.34918749
56	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.33879310
57	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.32360282
58	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.31688701
59	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31428380
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.30875677
61	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.29995080
62	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.27082442
63	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.27082442
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.24119718
65	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.23665932
66	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.23665932
67	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.21965288
68	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.21462798
69	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.21110051
70	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.20434213
71	* GATA3_21878914_ChIP-Seq_MCF-7_Human	1.18947946
72	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17399648
73	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.15897886
74	AR_21572438_ChIP-Seq_LNCaP_Human	1.15722313
75	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.15633038
76	* RUNX2_22187159_ChIP-Seq_PCA_Human	1.15489747
77	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.14592026
78	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13215162
79	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.13154964
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.11765897
81	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.11612458
82	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.11285263
83	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.10945330
84	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.10632339
85	* FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.08861907
86	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.08739850
87	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.07339409
88	ELK1_19687146_ChIP-ChIP_HELA_Human	1.06281613
89	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05493771
90	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.04473009
91	* NCOR_22424771_ChIP-Seq_293T_Human	1.03824998
92	AR_20517297_ChIP-Seq_VCAP_Human	1.03818081
93	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00827533
94	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.00243004
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.97610235
96	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97437655
97	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.97098220
98	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.96910753
99	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.95856972
100	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95232029

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	3.18186801
2	MP0003136_yellow_coat_color	3.09452653
3	MP0002102_abnormal_ear_morphology	2.82377009
4	MP0003195_calcinosis	2.50256273
5	MP0008877_abnormal_DNA_methylation	2.46079829
6	MP0005551_abnormal_eye_electrophysiolog	2.38070318
7	MP0006072_abnormal_retinal_apoptosis	2.29750335
8	MP0002938_white_spotting	2.29239648
9	MP0003880_abnormal_central_pattern	2.20867314
10	MP0000372_irregular_coat_pigmentation	2.19142717
11	MP0004147_increased_porphyrin_level	2.14515510
12	MP0004142_abnormal_muscle_tone	2.08577503
13	MP0002837_dystrophic_cardiac_calcinosis	2.08359789
14	MP0005174_abnormal_tail_pigmentation	2.03912703
15	MP0004133_heterotaxia	2.00830850
16	MP0003646_muscle_fatigue	1.95129887
17	MP0009046_muscle_twitch	1.87728695
18	MP0001968_abnormal_touch/_nociception	1.87016904
19	MP0008875_abnormal_xenobiotic_pharmacok	1.80492442
20	MP0004885_abnormal_endolymph	1.78463531
21	MP0009745_abnormal_behavioral_response	1.78000884
22	MP0006292_abnormal_olfactory_placode	1.73104520
23	MP0008872_abnormal_physiological_respon	1.72652137
24	MP0005645_abnormal_hypothalamus_physiol	1.71258790
25	MP0002653_abnormal_ependyma_morphology	1.69458075
26	MP0003787_abnormal_imprinting	1.68183268
27	MP0003011_delayed_dark_adaptation	1.66669772
28	MP0005253_abnormal_eye_physiology	1.65850641
29	MP0002638_abnormal_pupillary_reflex	1.64796628
30	MP0001485_abnormal_pinna_reflex	1.63059456
31	MP0006276_abnormal_autonomic_nervous	1.59088086
32	MP0005646_abnormal_pituitary_gland	1.56785496
33	MP0000427_abnormal_hair_cycle	1.56747061
34	MP0002876_abnormal_thyroid_physiology	1.56235356
35	MP0003283_abnormal_digestive_organ	1.54338367
36	MP0003890_abnormal_embryonic-extraembry	1.54335124
37	MP0002736_abnormal_nociception_after	1.53980137
38	MP0004145_abnormal_muscle_electrophysio	1.53898008
39	MP0002272_abnormal_nervous_system	1.53134620
40	MP0002928_abnormal_bile_duct	1.51218811
41	MP0002163_abnormal_gland_morphology	1.51183415
42	MP0004043_abnormal_pH_regulation	1.50399672
43	MP0000631_abnormal_neuroendocrine_gland	1.49551142
44	MP0002234_abnormal_pharynx_morphology	1.42128652
45	MP0002735_abnormal_chemical_nociception	1.40751237
46	MP0005084_abnormal_gallbladder_morpholo	1.39966013
47	MP0004742_abnormal_vestibular_system	1.39424764
48	MP0001986_abnormal_taste_sensitivity	1.39406259
49	MP0001486_abnormal_startle_reflex	1.29943976
50	MP0002572_abnormal_emotion/affect_behav	1.27307026
51	MP0002067_abnormal_sensory_capabilities	1.23934044
52	MP0002095_abnormal_skin_pigmentation	1.23864619
53	MP0002064_seizures	1.23677758
54	MP0001529_abnormal_vocalization	1.23676974
55	MP0002557_abnormal_social/conspecific_i	1.22318957
56	MP0001501_abnormal_sleep_pattern	1.21211001
57	MP0000383_abnormal_hair_follicle	1.21143940
58	MP0002160_abnormal_reproductive_system	1.20635847
59	MP0005386_behavior/neurological_phenoty	1.18885264
60	MP0004924_abnormal_behavior	1.18885264
61	MP0005423_abnormal_somatic_nervous	1.17258195
62	MP0005195_abnormal_posterior_eye	1.15305382
63	MP0004215_abnormal_myocardial_fiber	1.15128878
64	MP0005389_reproductive_system_phenotype	1.12733654
65	MP0005379_endocrine/exocrine_gland_phen	1.12284536
66	MP0002277_abnormal_respiratory_mucosa	1.12034146
67	MP0000778_abnormal_nervous_system	1.08486438
68	MP0005377_hearing/vestibular/ear_phenot	1.05714676
69	MP0003878_abnormal_ear_physiology	1.05714676
70	MP0002184_abnormal_innervation	1.02818445
71	MP0002733_abnormal_thermal_nociception	1.02802086
72	MP0001984_abnormal_olfaction	1.02511033
73	MP0009379_abnormal_foot_pigmentation	1.02088516
74	MP0001970_abnormal_pain_threshold	1.02004031
75	MP0002751_abnormal_autonomic_nervous	1.00303837
76	MP0008775_abnormal_heart_ventricle	0.99110519
77	MP0002752_abnormal_somatic_nervous	0.98344453
78	MP0000026_abnormal_inner_ear	0.97581751
79	MP0001919_abnormal_reproductive_system	0.97087592
80	MP0005187_abnormal_penis_morphology	0.96590659
81	MP0003119_abnormal_digestive_system	0.96396305
82	MP0002063_abnormal_learning/memory/cond	0.95814809
83	MP0003937_abnormal_limbs/digits/tail_de	0.95588923
84	MP0003718_maternal_effect	0.94591167
85	MP0003635_abnormal_synaptic_transmissio	0.94475964
86	MP0003137_abnormal_impulse_conducting	0.93625727
87	MP0001905_abnormal_dopamine_level	0.91744634
88	MP0001293_anophthalmia	0.89781528
89	MP0000647_abnormal_sebaceous_gland	0.88160282
90	MP0002734_abnormal_mechanical_nocicepti	0.87901179
91	MP0010386_abnormal_urinary_bladder	0.86795358
92	MP0008995_early_reproductive_senescence	0.85138785
93	MP0000230_abnormal_systemic_arterial	0.84992516
94	MP0001324_abnormal_eye_pigmentation	0.83572688
95	MP0001188_hyperpigmentation	0.81353333
96	MP0008058_abnormal_DNA_repair	0.81180160
97	MP0003121_genomic_imprinting	0.78684469
98	MP0000538_abnormal_urinary_bladder	0.76971335
99	MP0000955_abnormal_spinal_cord	0.76795543
100	MP0005391_vision/eye_phenotype	0.75749310

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Molar tooth sign on MRI (HP:0002419)	4.69034027
2	Abnormality of midbrain morphology (HP:0002418)	4.69034027
3	Pancreatic cysts (HP:0001737)	4.47737282
4	Pancreatic fibrosis (HP:0100732)	4.08670597
5	True hermaphroditism (HP:0010459)	3.95283733
6	Nephronophthisis (HP:0000090)	3.94733037
7	Type II lissencephaly (HP:0007260)	3.83304082
8	Hyperventilation (HP:0002883)	3.46213057
9	Congenital stationary night blindness (HP:0007642)	3.43901819
10	Abnormality of the renal cortex (HP:0011035)	3.41643767
11	Abnormality of the renal medulla (HP:0100957)	3.40056273
12	Birth length less than 3rd percentile (HP:0003561)	3.16313965
13	Medial flaring of the eyebrow (HP:0010747)	3.11283476
14	Concave nail (HP:0001598)	2.99020053
15	Abnormality of alanine metabolism (HP:0010916)	2.95532269
16	Hyperalaninemia (HP:0003348)	2.95532269
17	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.95532269
18	Cerebellar dysplasia (HP:0007033)	2.91809234
19	Abolished electroretinogram (ERG) (HP:0000550)	2.86951755
20	Attenuation of retinal blood vessels (HP:0007843)	2.83865111
21	Large for gestational age (HP:0001520)	2.80470618
22	Chronic hepatic failure (HP:0100626)	2.77108203
23	Cystic liver disease (HP:0006706)	2.72647255
24	Tubular atrophy (HP:0000092)	2.68666565
25	Lissencephaly (HP:0001339)	2.65188281
26	Congenital, generalized hypertrichosis (HP:0004540)	2.62177091
27	Renal cortical cysts (HP:0000803)	2.58311936
28	Abnormality of the pons (HP:0007361)	2.56684470
29	Hypoplasia of the pons (HP:0012110)	2.51403195
30	Sclerocornea (HP:0000647)	2.47867876
31	Gait imbalance (HP:0002141)	2.42469951
32	Pendular nystagmus (HP:0012043)	2.41236080
33	Absent/shortened dynein arms (HP:0200106)	2.39281743
34	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.39281743
35	Keratoconus (HP:0000563)	2.38233541
36	Increased corneal curvature (HP:0100692)	2.38233541
37	Abnormal drinking behavior (HP:0030082)	2.37647495
38	Polydipsia (HP:0001959)	2.37647495
39	Gaze-evoked nystagmus (HP:0000640)	2.36748676
40	Furrowed tongue (HP:0000221)	2.36640482
41	Inability to walk (HP:0002540)	2.33630499
42	Patellar aplasia (HP:0006443)	2.32685793
43	Congenital primary aphakia (HP:0007707)	2.31524261
44	Anencephaly (HP:0002323)	2.28431696
45	Protruding tongue (HP:0010808)	2.26930014
46	Aplasia/Hypoplasia of the patella (HP:0006498)	2.23084559
47	Congenital hepatic fibrosis (HP:0002612)	2.21199006
48	Pachygyria (HP:0001302)	2.18777247
49	Progressive cerebellar ataxia (HP:0002073)	2.18453808
50	Genetic anticipation (HP:0003743)	2.16309595
51	Abnormal rod and cone electroretinograms (HP:0008323)	2.16299145
52	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.15265254
53	Broad-based gait (HP:0002136)	2.13829519
54	Nephrogenic diabetes insipidus (HP:0009806)	2.10445299
55	Retinal dysplasia (HP:0007973)	2.08484123
56	Male pseudohermaphroditism (HP:0000037)	2.04765217
57	Colon cancer (HP:0003003)	2.04057216
58	Severe muscular hypotonia (HP:0006829)	2.03290709
59	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.01777520
60	Abnormal respiratory epithelium morphology (HP:0012253)	2.01545181
61	Abnormal respiratory motile cilium morphology (HP:0005938)	2.01545181
62	Polyuria (HP:0000103)	2.00457938
63	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.99222175
64	Tachypnea (HP:0002789)	1.96662234
65	Decreased circulating renin level (HP:0003351)	1.95944827
66	Mitochondrial inheritance (HP:0001427)	1.93706839
67	Chorioretinal atrophy (HP:0000533)	1.93250951
68	Genital tract atresia (HP:0001827)	1.92379404
69	Vaginal atresia (HP:0000148)	1.89906521
70	Acute necrotizing encephalopathy (HP:0006965)	1.88097957
71	Progressive inability to walk (HP:0002505)	1.87642218
72	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.87002719
73	Abnormal ciliary motility (HP:0012262)	1.86141934
74	Increased CSF lactate (HP:0002490)	1.86074882
75	Abnormal biliary tract physiology (HP:0012439)	1.85708905
76	Bile duct proliferation (HP:0001408)	1.85708905
77	Optic disc pallor (HP:0000543)	1.85372657
78	Postaxial foot polydactyly (HP:0001830)	1.83587329
79	Decreased central vision (HP:0007663)	1.82745650
80	Stomach cancer (HP:0012126)	1.79814394
81	Fair hair (HP:0002286)	1.77382953
82	Poor coordination (HP:0002370)	1.76100162
83	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.75487136
84	Bilateral microphthalmos (HP:0007633)	1.75471649
85	Dandy-Walker malformation (HP:0001305)	1.73981552
86	Supernumerary spleens (HP:0009799)	1.73743630
87	Febrile seizures (HP:0002373)	1.73511141
88	Optic nerve hypoplasia (HP:0000609)	1.71345015
89	Hypothermia (HP:0002045)	1.69485402
90	Acute encephalopathy (HP:0006846)	1.68899242
91	Abnormality of the labia minora (HP:0012880)	1.68861658
92	Progressive macrocephaly (HP:0004481)	1.67164221
93	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.65433722
94	Preaxial hand polydactyly (HP:0001177)	1.64884050
95	Clumsiness (HP:0002312)	1.64614593
96	Bony spicule pigmentary retinopathy (HP:0007737)	1.64199173
97	Postaxial hand polydactyly (HP:0001162)	1.63847476
98	Prominent supraorbital ridges (HP:0000336)	1.63122358
99	Anophthalmia (HP:0000528)	1.61839836
100	Short tibia (HP:0005736)	1.60767919

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.66324499
2	TLK1	3.24554133
3	ADRBK2	3.20680426
4	BMPR1B	3.17751144
5	ZAK	2.81095121
6	ACVR1B	2.68649355
7	WNK4	2.67239610
8	INSRR	2.57134740
9	CASK	2.53774692
10	PNCK	2.46279696
11	GRK1	2.35704292
12	WNK3	2.20151262
13	MAP4K2	2.16808512
14	PINK1	2.12764115
15	MAPK13	1.87859889
16	MAPK15	1.71331712
17	TAOK3	1.67866370
18	MAP3K4	1.66935510
19	NUAK1	1.64848066
20	OXSR1	1.61783157
21	STK39	1.59341172
22	MKNK2	1.54862055
23	MARK1	1.49133882
24	TNIK	1.45302960
25	NTRK3	1.36519208
26	DAPK2	1.35831906
27	PIK3CA	1.30306714
28	TGFBR1	1.27588484
29	ADRBK1	1.26104578
30	TXK	1.19252916
31	CAMKK2	1.08309279
32	WEE1	1.08237465
33	PAK3	1.06279018
34	PRKCG	1.03632832
35	TSSK6	0.99376776
36	MAP2K7	0.98370733
37	PTK2B	0.96366445
38	DYRK2	0.91881784
39	VRK1	0.89724404
40	MAP2K6	0.89476450
41	OBSCN	0.86796485
42	NTRK2	0.78643389
43	MKNK1	0.77635849
44	MAPKAPK3	0.76644039
45	PRKCE	0.76540726
46	TRIM28	0.75806011
47	PHKG1	0.75442163
48	PHKG2	0.75442163
49	NEK2	0.74551301
50	PLK4	0.74018061
51	BCKDK	0.73442335
52	BRSK2	0.70658241
53	ERBB3	0.68782986
54	STK16	0.67776160
55	MUSK	0.66742972
56	MAPKAPK5	0.66596575
57	STK38L	0.65302615
58	RPS6KA5	0.64414464
59	KIT	0.61704715
60	CSNK1G2	0.60865541
61	NLK	0.59934250
62	STK11	0.59162818
63	PLK3	0.56524130
64	CSNK1G1	0.54882635
65	CAMK2A	0.54130634
66	CDK3	0.53684431
67	SIK2	0.53660557
68	AKT3	0.50931622
69	TIE1	0.49378788
70	PRKCQ	0.48852850
71	PLK2	0.46586848
72	TAF1	0.45292343
73	PKN1	0.45260506
74	CHEK2	0.45039414
75	PRKACA	0.43508530
76	MARK3	0.42310986
77	NME1	0.40305352
78	FGFR2	0.40171401
79	GRK7	0.40130256
80	PASK	0.38157400
81	EIF2AK3	0.38132184
82	CSNK1G3	0.38046855
83	STK3	0.35670071
84	CSNK1D	0.35372762
85	CSNK1A1L	0.35316537
86	PRKG1	0.35193054
87	PRKACB	0.34930877
88	ITK	0.34771157
89	CAMK1	0.34717713
90	CHUK	0.34563794
91	WNK1	0.34388045
92	MAP2K2	0.34180181
93	TRPM7	0.32635883
94	TEC	0.32209701
95	CSNK1A1	0.31661927
96	CAMK1G	0.30788010
97	MAP2K4	0.30280365
98	PLK1	0.29947344
99	MAP2K1	0.29216389
100	CAMK1D	0.29195837

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	2.57989156
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.55097805
3	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.54448074
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.49009651
5	Phototransduction_Homo sapiens_hsa04744	2.45427062
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.41440028
7	Butanoate metabolism_Homo sapiens_hsa00650	2.40522589
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.31142541
9	Nicotine addiction_Homo sapiens_hsa05033	2.30601200
10	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.30256012
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.27130667
12	Selenocompound metabolism_Homo sapiens_hsa00450	2.26489150
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.22925099
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.07570610
15	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.07159422
16	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.01235599
17	Protein export_Homo sapiens_hsa03060	2.00352032
18	Parkinsons disease_Homo sapiens_hsa05012	1.82989758
19	Basal transcription factors_Homo sapiens_hsa03022	1.80709061
20	RNA polymerase_Homo sapiens_hsa03020	1.78543400
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.72052300
22	Homologous recombination_Homo sapiens_hsa03440	1.71775495
23	Caffeine metabolism_Homo sapiens_hsa00232	1.71101004
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59572451
25	Cardiac muscle contraction_Homo sapiens_hsa04260	1.49355595
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.45661709
27	Taste transduction_Homo sapiens_hsa04742	1.45100569
28	RNA degradation_Homo sapiens_hsa03018	1.42490748
29	Propanoate metabolism_Homo sapiens_hsa00640	1.33327308
30	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.32818339
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.32629052
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.29514348
33	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.28141742
34	Alzheimers disease_Homo sapiens_hsa05010	1.27080062
35	Ribosome_Homo sapiens_hsa03010	1.23735400
36	Huntingtons disease_Homo sapiens_hsa05016	1.22453913
37	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.22288181
38	Morphine addiction_Homo sapiens_hsa05032	1.20335656
39	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.17463857
40	ABC transporters_Homo sapiens_hsa02010	1.13707694
41	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.10865779
42	Peroxisome_Homo sapiens_hsa04146	1.06081906
43	Chemical carcinogenesis_Homo sapiens_hsa05204	1.04589391
44	Olfactory transduction_Homo sapiens_hsa04740	1.01131960
45	Insulin secretion_Homo sapiens_hsa04911	0.99259789
46	GABAergic synapse_Homo sapiens_hsa04727	0.96863261
47	Serotonergic synapse_Homo sapiens_hsa04726	0.96276175
48	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.95193635
49	Circadian entrainment_Homo sapiens_hsa04713	0.94529961
50	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.93771291
51	One carbon pool by folate_Homo sapiens_hsa00670	0.92311890
52	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.89871403
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.85812042
54	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.85095070
55	Retinol metabolism_Homo sapiens_hsa00830	0.82982368
56	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.82766746
57	Glutamatergic synapse_Homo sapiens_hsa04724	0.82454875
58	Regulation of autophagy_Homo sapiens_hsa04140	0.80726716
59	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.75664731
60	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.73170109
61	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.68238586
62	Purine metabolism_Homo sapiens_hsa00230	0.67417091
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66350496
64	Collecting duct acid secretion_Homo sapiens_hsa04966	0.65062989
65	Histidine metabolism_Homo sapiens_hsa00340	0.63966681
66	Glycerolipid metabolism_Homo sapiens_hsa00561	0.63522102
67	Calcium signaling pathway_Homo sapiens_hsa04020	0.63413665
68	Sulfur metabolism_Homo sapiens_hsa00920	0.62632802
69	Fat digestion and absorption_Homo sapiens_hsa04975	0.61637732
70	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.60954251
71	Dopaminergic synapse_Homo sapiens_hsa04728	0.60048476
72	Cocaine addiction_Homo sapiens_hsa05030	0.59797951
73	Basal cell carcinoma_Homo sapiens_hsa05217	0.59479955
74	Pyrimidine metabolism_Homo sapiens_hsa00240	0.57135911
75	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.56663084
76	Steroid biosynthesis_Homo sapiens_hsa00100	0.56601060
77	Metabolic pathways_Homo sapiens_hsa01100	0.56504788
78	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.56068906
79	Mineral absorption_Homo sapiens_hsa04978	0.55907905
80	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.55766976
81	Non-homologous end-joining_Homo sapiens_hsa03450	0.51991042
82	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.51590127
83	Circadian rhythm_Homo sapiens_hsa04710	0.51295559
84	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.48173866
85	Amphetamine addiction_Homo sapiens_hsa05031	0.45977066
86	Salivary secretion_Homo sapiens_hsa04970	0.45566130
87	Nucleotide excision repair_Homo sapiens_hsa03420	0.45545599
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.44518803
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.44192443
90	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.42731685
91	Sulfur relay system_Homo sapiens_hsa04122	0.39884551
92	Cholinergic synapse_Homo sapiens_hsa04725	0.36997992
93	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.35731501
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.35608595
95	cAMP signaling pathway_Homo sapiens_hsa04024	0.35128018
96	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.31827028
97	RNA transport_Homo sapiens_hsa03013	0.31177701
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.30206985
99	Fatty acid degradation_Homo sapiens_hsa00071	0.27972051
100	Axon guidance_Homo sapiens_hsa04360	0.26472184

ZNF283

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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