ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.49754037
2	L-fucose catabolic process (GO:0042355)	5.16274447
3	fucose catabolic process (GO:0019317)	5.16274447
4	L-fucose metabolic process (GO:0042354)	5.16274447
5	response to pheromone (GO:0019236)	4.54518957
6	cellular ketone body metabolic process (GO:0046950)	3.75791034
7	tryptophan catabolic process (GO:0006569)	3.65600798
8	indole-containing compound catabolic process (GO:0042436)	3.65600798
9	indolalkylamine catabolic process (GO:0046218)	3.65600798
10	detection of light stimulus involved in sensory perception (GO:0050962)	3.63151756
11	detection of light stimulus involved in visual perception (GO:0050908)	3.63151756
12	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.48733563
13	DNA deamination (GO:0045006)	3.47881245
14	indolalkylamine metabolic process (GO:0006586)	3.36198906
15	ketone body metabolic process (GO:1902224)	3.35548798
16	kynurenine metabolic process (GO:0070189)	3.33597153
17	protein K11-linked deubiquitination (GO:0035871)	3.33231931
18	protein-cofactor linkage (GO:0018065)	3.32558900
19	water-soluble vitamin biosynthetic process (GO:0042364)	3.31661700
20	protein complex biogenesis (GO:0070271)	3.31421408
21	tryptophan metabolic process (GO:0006568)	3.20874880
22	gamma-aminobutyric acid transport (GO:0015812)	3.19828125
23	platelet dense granule organization (GO:0060155)	3.16976838
24	protein polyglutamylation (GO:0018095)	3.16359338
25	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.15045844
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.14425458
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.14425458
28	NADH dehydrogenase complex assembly (GO:0010257)	3.14425458
29	DNA double-strand break processing (GO:0000729)	3.12258101
30	mitochondrial respiratory chain complex assembly (GO:0033108)	3.09806126
31	piRNA metabolic process (GO:0034587)	3.07778222
32	negative regulation of telomere maintenance (GO:0032205)	3.04722901
33	cornea development in camera-type eye (GO:0061303)	3.02806965
34	neuronal action potential (GO:0019228)	3.02197912
35	axoneme assembly (GO:0035082)	2.99960018
36	protein localization to cilium (GO:0061512)	2.99146360
37	respiratory chain complex IV assembly (GO:0008535)	2.98841667
38	neural tube formation (GO:0001841)	2.90679366
39	epithelial cilium movement (GO:0003351)	2.85977991
40	indole-containing compound metabolic process (GO:0042430)	2.85707746
41	kidney morphogenesis (GO:0060993)	2.85396406
42	primary amino compound metabolic process (GO:1901160)	2.84449714
43	cytochrome complex assembly (GO:0017004)	2.82225096
44	C4-dicarboxylate transport (GO:0015740)	2.81003169
45	preassembly of GPI anchor in ER membrane (GO:0016254)	2.80828694
46	regulation of hippo signaling (GO:0035330)	2.80105144
47	regulation of memory T cell differentiation (GO:0043380)	2.77814675
48	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.75992978
49	nonmotile primary cilium assembly (GO:0035058)	2.73268624
50	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.73057816
51	replication fork processing (GO:0031297)	2.72979802
52	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.72542624
53	glycerophospholipid catabolic process (GO:0046475)	2.69943004
54	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.69150091
55	fucosylation (GO:0036065)	2.65482005
56	behavioral response to ethanol (GO:0048149)	2.64517817
57	cilium morphogenesis (GO:0060271)	2.62711354
58	sulfation (GO:0051923)	2.62435530
59	negative regulation of mast cell activation (GO:0033004)	2.61492924
60	reciprocal meiotic recombination (GO:0007131)	2.61329485
61	reciprocal DNA recombination (GO:0035825)	2.61329485
62	multicellular organism reproduction (GO:0032504)	2.59377157
63	photoreceptor cell maintenance (GO:0045494)	2.58645885
64	somite development (GO:0061053)	2.56171222
65	hindbrain development (GO:0030902)	2.55934439
66	positive regulation of defense response to virus by host (GO:0002230)	2.55929458
67	neuronal action potential propagation (GO:0019227)	2.53812659
68	DNA methylation involved in gamete generation (GO:0043046)	2.53337747
69	nephron epithelium morphogenesis (GO:0072088)	2.53333350
70	nephron tubule morphogenesis (GO:0072078)	2.53333350
71	regulation of action potential (GO:0098900)	2.53211985
72	mannosylation (GO:0097502)	2.52027072
73	auditory receptor cell stereocilium organization (GO:0060088)	2.51543606
74	cilium organization (GO:0044782)	2.50682946
75	head development (GO:0060322)	2.50476649
76	reflex (GO:0060004)	2.49534215
77	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.48999141
78	dopamine transport (GO:0015872)	2.48627886
79	regulation of cilium movement (GO:0003352)	2.47248964
80	synapsis (GO:0007129)	2.46404885
81	recombinational repair (GO:0000725)	2.46215821
82	male meiosis I (GO:0007141)	2.46110291
83	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.46062517
84	amine catabolic process (GO:0009310)	2.44278524
85	cellular biogenic amine catabolic process (GO:0042402)	2.44278524
86	rhodopsin mediated signaling pathway (GO:0016056)	2.44043139
87	double-strand break repair via homologous recombination (GO:0000724)	2.42802295
88	retinal cone cell development (GO:0046549)	2.42725152
89	inner ear receptor stereocilium organization (GO:0060122)	2.41696598
90	cilium assembly (GO:0042384)	2.40665706
91	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.38690607
92	rRNA catabolic process (GO:0016075)	2.38224638
93	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.38195721
94	serotonin metabolic process (GO:0042428)	2.37598064
95	startle response (GO:0001964)	2.37575622
96	cellular response to ATP (GO:0071318)	2.37204058
97	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.36553393
98	regulation of glucokinase activity (GO:0033131)	2.35380725
99	regulation of hexokinase activity (GO:1903299)	2.35380725
100	cAMP catabolic process (GO:0006198)	2.34543056

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.18102828
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.12639982
3	VDR_22108803_ChIP-Seq_LS180_Human	3.07087762
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.89995986
5	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.56615735
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.56297050
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.48657300
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.36480366
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.36366645
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.36208518
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.25783588
12	EWS_26573619_Chip-Seq_HEK293_Human	2.13429818
13	FUS_26573619_Chip-Seq_HEK293_Human	2.09119958
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.07981266
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.06808559
16	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.02247086
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.01743533
18	P300_19829295_ChIP-Seq_ESCs_Human	1.97547045
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.86995681
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.86901163
21	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.84580305
22	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.77892639
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.76460469
24	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.70485641
25	IRF1_19129219_ChIP-ChIP_H3396_Human	1.70102764
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.68547096
27	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.57636776
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.56901197
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.56248386
30	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.56023267
31	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.55671603
32	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.55605750
33	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.51870784
34	BCAT_22108803_ChIP-Seq_LS180_Human	1.50324070
35	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48031259
36	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.47400705
37	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.46971682
38	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.46599962
39	* STAT3_23295773_ChIP-Seq_U87_Human	1.45396606
40	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.45322564
41	AR_25329375_ChIP-Seq_VCAP_Human	1.44492959
42	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.43166333
43	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.41848103
44	SMAD4_21799915_ChIP-Seq_A2780_Human	1.41747938
45	MYC_18940864_ChIP-ChIP_HL60_Human	1.41206882
46	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.40171375
47	TCF4_23295773_ChIP-Seq_U87_Human	1.39364526
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.39353439
49	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.39353439
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.39008290
51	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.38581841
52	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.32653391
53	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.30536442
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.29025671
55	REST_21632747_ChIP-Seq_MESCs_Mouse	1.28829333
56	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.28093408
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.27965644
58	NANOG_19829295_ChIP-Seq_ESCs_Human	1.27965644
59	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.27821161
60	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.27692466
61	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.27692466
62	AR_21572438_ChIP-Seq_LNCaP_Human	1.27327346
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.26539165
64	* NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.25712336
65	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.25594242
66	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25313011
67	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.21497477
68	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.20124502
69	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20072533
70	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.18425543
71	RUNX2_22187159_ChIP-Seq_PCA_Human	1.18268248
72	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.18067948
73	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.18067948
74	* TCF4_22108803_ChIP-Seq_LS180_Human	1.17896416
75	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17831269
76	NCOR_22424771_ChIP-Seq_293T_Human	1.17696759
77	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.14831374
78	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.14196240
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.13138592
80	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.13112693
81	RNF2_27304074_Chip-Seq_NSC_Mouse	1.12707390
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12635826
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.11582830
84	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11242927
85	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11086818
86	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.10956420
87	AR_20517297_ChIP-Seq_VCAP_Human	1.10724671
88	HOXB7_26014856_ChIP-Seq_BT474_Human	1.07944188
89	VDR_23849224_ChIP-Seq_CD4+_Human	1.07435883
90	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.06675430
91	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.05921810
92	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04998205
93	ELK1_19687146_ChIP-ChIP_HELA_Human	1.02663497
94	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.97978715
95	HTT_18923047_ChIP-ChIP_STHdh_Human	0.97603224
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.97469953
97	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97373102
98	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.96646476
99	P300_18555785_Chip-Seq_ESCs_Mouse	0.95039353
100	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.93848302

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.06295411
2	MP0005551_abnormal_eye_electrophysiolog	2.62373966
3	MP0008877_abnormal_DNA_methylation	2.60520208
4	MP0002102_abnormal_ear_morphology	2.56491048
5	MP0003880_abnormal_central_pattern	2.43557616
6	MP0000569_abnormal_digit_pigmentation	2.40381717
7	MP0008875_abnormal_xenobiotic_pharmacok	2.38879731
8	MP0001968_abnormal_touch/_nociception	2.34176086
9	MP0006292_abnormal_olfactory_placode	2.32892727
10	MP0006072_abnormal_retinal_apoptosis	2.32532633
11	MP0001986_abnormal_taste_sensitivity	2.30730425
12	MP0002837_dystrophic_cardiac_calcinosis	2.17024495
13	MP0002876_abnormal_thyroid_physiology	2.01961868
14	MP0008872_abnormal_physiological_respon	1.97215408
15	MP0009046_muscle_twitch	1.97033219
16	MP0009745_abnormal_behavioral_response	1.93437225
17	MP0002736_abnormal_nociception_after	1.91402266
18	MP0005253_abnormal_eye_physiology	1.87177848
19	MP0003787_abnormal_imprinting	1.86666197
20	MP0004885_abnormal_endolymph	1.85459403
21	MP0004142_abnormal_muscle_tone	1.85233564
22	MP0003011_delayed_dark_adaptation	1.82934147
23	MP0005645_abnormal_hypothalamus_physiol	1.79636239
24	MP0004147_increased_porphyrin_level	1.73461072
25	MP0000427_abnormal_hair_cycle	1.73001492
26	MP0002653_abnormal_ependyma_morphology	1.70503919
27	MP0002272_abnormal_nervous_system	1.66115786
28	MP0005646_abnormal_pituitary_gland	1.62615282
29	MP0004133_heterotaxia	1.62504526
30	MP0002638_abnormal_pupillary_reflex	1.62201684
31	MP0003136_yellow_coat_color	1.61798533
32	MP0001984_abnormal_olfaction	1.60069049
33	MP0002938_white_spotting	1.59930220
34	MP0001501_abnormal_sleep_pattern	1.56861718
35	MP0001486_abnormal_startle_reflex	1.52769237
36	MP0000372_irregular_coat_pigmentation	1.49989296
37	MP0000631_abnormal_neuroendocrine_gland	1.48499340
38	MP0005084_abnormal_gallbladder_morpholo	1.38708716
39	MP0003646_muscle_fatigue	1.35506724
40	MP0010386_abnormal_urinary_bladder	1.34687494
41	MP0005389_reproductive_system_phenotype	1.33329797
42	MP0003283_abnormal_digestive_organ	1.33006637
43	MP0002735_abnormal_chemical_nociception	1.31011772
44	MP0004742_abnormal_vestibular_system	1.29500786
45	MP0002064_seizures	1.28022949
46	MP0006276_abnormal_autonomic_nervous	1.27475929
47	MP0005174_abnormal_tail_pigmentation	1.26777510
48	MP0002572_abnormal_emotion/affect_behav	1.22330237
49	MP0001919_abnormal_reproductive_system	1.21762477
50	MP0005379_endocrine/exocrine_gland_phen	1.21135871
51	MP0002733_abnormal_thermal_nociception	1.19872582
52	MP0004924_abnormal_behavior	1.19209749
53	MP0005386_behavior/neurological_phenoty	1.19209749
54	MP0003252_abnormal_bile_duct	1.18716172
55	MP0000383_abnormal_hair_follicle	1.18389766
56	MP0005075_abnormal_melanosome_morpholog	1.18299823
57	MP0001970_abnormal_pain_threshold	1.17910745
58	MP0002160_abnormal_reproductive_system	1.17217742
59	MP0002557_abnormal_social/conspecific_i	1.15639853
60	MP0005195_abnormal_posterior_eye	1.15496650
61	MP0002928_abnormal_bile_duct	1.15158290
62	MP0002138_abnormal_hepatobiliary_system	1.14617681
63	MP0004043_abnormal_pH_regulation	1.13734642
64	MP0001529_abnormal_vocalization	1.12881559
65	MP0002234_abnormal_pharynx_morphology	1.11000083
66	MP0005423_abnormal_somatic_nervous	1.10936800
67	MP0002163_abnormal_gland_morphology	1.09505793
68	MP0002734_abnormal_mechanical_nocicepti	1.06719165
69	MP0001485_abnormal_pinna_reflex	1.06245506
70	MP0002067_abnormal_sensory_capabilities	1.05611855
71	MP0004215_abnormal_myocardial_fiber	1.04518163
72	MP0001324_abnormal_eye_pigmentation	1.00415369
73	MP0000647_abnormal_sebaceous_gland	0.95901735
74	MP0002751_abnormal_autonomic_nervous	0.95391307
75	MP0008058_abnormal_DNA_repair	0.94583379
76	MP0002095_abnormal_skin_pigmentation	0.94496738
77	MP0001905_abnormal_dopamine_level	0.94233037
78	MP0005085_abnormal_gallbladder_physiolo	0.94102946
79	MP0001764_abnormal_homeostasis	0.92359645
80	MP0002063_abnormal_learning/memory/cond	0.92218765
81	MP0003635_abnormal_synaptic_transmissio	0.92106884
82	MP0000778_abnormal_nervous_system	0.91332660
83	MP0004145_abnormal_muscle_electrophysio	0.90812320
84	MP0002752_abnormal_somatic_nervous	0.90339237
85	MP0002693_abnormal_pancreas_physiology	0.90328609
86	MP0003718_maternal_effect	0.89981714
87	MP0003698_abnormal_male_reproductive	0.88790715
88	MP0005332_abnormal_amino_acid	0.88725944
89	MP0002184_abnormal_innervation	0.87609713
90	MP0000026_abnormal_inner_ear	0.86548966
91	MP0008775_abnormal_heart_ventricle	0.86050055
92	MP0002254_reproductive_system_inflammat	0.85877665
93	MP0001502_abnormal_circadian_rhythm	0.85715814
94	MP0002277_abnormal_respiratory_mucosa	0.84265868
95	MP0005167_abnormal_blood-brain_barrier	0.82965900
96	MP0005410_abnormal_fertilization	0.82096260
97	MP0002210_abnormal_sex_determination	0.80802770
98	MP0005671_abnormal_response_to	0.79346588
99	MP0002229_neurodegeneration	0.78364007
100	MP0003121_genomic_imprinting	0.75875190

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.49931698
2	True hermaphroditism (HP:0010459)	4.08845697
3	Pancreatic fibrosis (HP:0100732)	4.07325126
4	Abnormality of midbrain morphology (HP:0002418)	4.06857917
5	Molar tooth sign on MRI (HP:0002419)	4.06857917
6	Congenital stationary night blindness (HP:0007642)	4.01550767
7	Nephronophthisis (HP:0000090)	3.60510107
8	Type II lissencephaly (HP:0007260)	3.54582869
9	Abnormality of the renal cortex (HP:0011035)	3.43079220
10	Hyperventilation (HP:0002883)	3.25590077
11	Abnormality of the renal medulla (HP:0100957)	3.22822146
12	Abnormal rod and cone electroretinograms (HP:0008323)	2.93733111
13	Attenuation of retinal blood vessels (HP:0007843)	2.82934788
14	Tubular atrophy (HP:0000092)	2.82705477
15	Medial flaring of the eyebrow (HP:0010747)	2.78881873
16	Cystic liver disease (HP:0006706)	2.73271809
17	Cerebellar dysplasia (HP:0007033)	2.71796210
18	Abolished electroretinogram (ERG) (HP:0000550)	2.59336818
19	Hyperalaninemia (HP:0003348)	2.54505942
20	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.54505942
21	Abnormality of alanine metabolism (HP:0010916)	2.54505942
22	Renal cortical cysts (HP:0000803)	2.54017401
23	Pendular nystagmus (HP:0012043)	2.51520462
24	Inability to walk (HP:0002540)	2.51320808
25	Polydipsia (HP:0001959)	2.46441352
26	Abnormal drinking behavior (HP:0030082)	2.46441352
27	Congenital, generalized hypertrichosis (HP:0004540)	2.43928842
28	Lissencephaly (HP:0001339)	2.35124488
29	Acute necrotizing encephalopathy (HP:0006965)	2.33755840
30	Large for gestational age (HP:0001520)	2.33669992
31	Keratoconus (HP:0000563)	2.33330307
32	Increased corneal curvature (HP:0100692)	2.33330307
33	Gaze-evoked nystagmus (HP:0000640)	2.32996634
34	Chronic hepatic failure (HP:0100626)	2.30140027
35	Mitochondrial inheritance (HP:0001427)	2.28777122
36	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.28477278
37	Furrowed tongue (HP:0000221)	2.28177779
38	Progressive inability to walk (HP:0002505)	2.27903276
39	Sclerocornea (HP:0000647)	2.27150854
40	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.26334465
41	Broad-based gait (HP:0002136)	2.23557875
42	Bile duct proliferation (HP:0001408)	2.21778887
43	Abnormal biliary tract physiology (HP:0012439)	2.21778887
44	Gait imbalance (HP:0002141)	2.20472106
45	Progressive macrocephaly (HP:0004481)	2.17121152
46	Increased CSF lactate (HP:0002490)	2.16149721
47	Congenital primary aphakia (HP:0007707)	2.15175840
48	Optic nerve hypoplasia (HP:0000609)	2.11866354
49	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.10263527
50	Acute encephalopathy (HP:0006846)	2.08949431
51	Polyuria (HP:0000103)	2.07439319
52	Anencephaly (HP:0002323)	2.06628183
53	Hypoplasia of the fovea (HP:0007750)	2.06278294
54	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.06278294
55	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.06211099
56	Oligodactyly (hands) (HP:0001180)	2.05916118
57	Absent/shortened dynein arms (HP:0200106)	2.05098539
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.05098539
59	Pachygyria (HP:0001302)	2.02620992
60	Male pseudohermaphroditism (HP:0000037)	2.00046857
61	Decreased central vision (HP:0007663)	1.99576289
62	Chorioretinal atrophy (HP:0000533)	1.99425653
63	Nephrogenic diabetes insipidus (HP:0009806)	1.99103315
64	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.98307124
65	Postaxial foot polydactyly (HP:0001830)	1.98142976
66	Optic disc pallor (HP:0000543)	1.98101163
67	Hemiparesis (HP:0001269)	1.97409355
68	Abnormal mitochondria in muscle tissue (HP:0008316)	1.97275760
69	3-Methylglutaconic aciduria (HP:0003535)	1.95021527
70	Congenital hepatic fibrosis (HP:0002612)	1.93679651
71	Hypothermia (HP:0002045)	1.92860134
72	Congenital sensorineural hearing impairment (HP:0008527)	1.92594420
73	Intestinal atresia (HP:0011100)	1.89583295
74	Aplasia/hypoplasia of the uterus (HP:0008684)	1.88756368
75	Absent speech (HP:0001344)	1.88557118
76	Genital tract atresia (HP:0001827)	1.87993109
77	Patellar aplasia (HP:0006443)	1.87913306
78	Stomach cancer (HP:0012126)	1.85902048
79	Abnormality of the pons (HP:0007361)	1.85621876
80	Febrile seizures (HP:0002373)	1.85042575
81	Abnormality of the fovea (HP:0000493)	1.84522767
82	Aplasia/Hypoplasia of the patella (HP:0006498)	1.84334401
83	Severe muscular hypotonia (HP:0006829)	1.83580988
84	Hypoplasia of the pons (HP:0012110)	1.82446441
85	Retinal dysplasia (HP:0007973)	1.81951923
86	Occipital encephalocele (HP:0002085)	1.81334175
87	Postaxial hand polydactyly (HP:0001162)	1.80725024
88	Abnormal respiratory epithelium morphology (HP:0012253)	1.80643267
89	Abnormal respiratory motile cilium morphology (HP:0005938)	1.80643267
90	Short tibia (HP:0005736)	1.79154601
91	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.77421890
92	Methylmalonic acidemia (HP:0002912)	1.76093705
93	Vaginal atresia (HP:0000148)	1.76050579
94	Decreased circulating renin level (HP:0003351)	1.75990130
95	Lipid accumulation in hepatocytes (HP:0006561)	1.75684516
96	Abnormality of macular pigmentation (HP:0008002)	1.75475831
97	Progressive cerebellar ataxia (HP:0002073)	1.71848632
98	Bony spicule pigmentary retinopathy (HP:0007737)	1.71303341
99	Fair hair (HP:0002286)	1.70202610
100	Hepatocellular necrosis (HP:0001404)	1.69833028

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.55773065
2	ADRBK2	3.33393582
3	BMPR1B	2.90269208
4	MAP4K2	2.85882095
5	ZAK	2.79844483
6	WNK3	2.49557962
7	CASK	2.47412141
8	GRK1	2.46314512
9	INSRR	2.33871604
10	WNK4	2.26730302
11	TXK	2.18888785
12	PINK1	2.16058846
13	NUAK1	2.07663135
14	TNIK	1.98870601
15	ACVR1B	1.91226901
16	TLK1	1.87970147
17	MAPK13	1.82641079
18	STK39	1.55766086
19	TAOK3	1.54528420
20	MAP3K4	1.44621997
21	MST4	1.34853138
22	BRSK2	1.33289868
23	OXSR1	1.32184440
24	DAPK2	1.27630277
25	ADRBK1	1.25350565
26	TRIM28	1.23687484
27	STK38L	1.21279451
28	MKNK2	1.15009420
29	VRK1	1.14100298
30	PRKCE	1.11402299
31	MARK1	1.05944721
32	PAK3	1.03245996
33	DYRK2	1.02829425
34	CSNK1G1	0.97678888
35	TGFBR1	0.96513664
36	NTRK3	0.95728305
37	CSNK1G2	0.94768657
38	PRKCG	0.94483400
39	CAMKK2	0.94316076
40	TAF1	0.90283098
41	BCKDK	0.89690085
42	MAPK15	0.89234660
43	PHKG1	0.89108985
44	PHKG2	0.89108985
45	CSNK1G3	0.87867974
46	PLK2	0.86767579
47	EPHA4	0.86748043
48	ERBB3	0.84971245
49	PLK3	0.83985624
50	PNCK	0.82858849
51	FGFR2	0.80054440
52	CSNK1A1L	0.79185406
53	MAP2K7	0.78626696
54	VRK2	0.78536834
55	MAPKAPK3	0.77308697
56	NME1	0.76575728
57	WEE1	0.75284109
58	MAP2K6	0.72509200
59	NTRK2	0.71747624
60	BCR	0.70122841
61	PTK2B	0.69208336
62	NLK	0.68903008
63	PLK4	0.64412894
64	TEC	0.63627819
65	PIK3CA	0.62852449
66	EPHA3	0.57029502
67	IKBKB	0.56063597
68	GRK5	0.55647560
69	MUSK	0.54221924
70	CAMK2A	0.53628467
71	ITK	0.52155975
72	TIE1	0.50614589
73	PRKCQ	0.50474326
74	IRAK1	0.49261027
75	GRK7	0.46906030
76	STK16	0.46166938
77	MKNK1	0.45885774
78	PRKACA	0.45699904
79	CSNK1A1	0.44981665
80	PKN1	0.44151198
81	PRKCI	0.42980930
82	STK3	0.41239470
83	STK11	0.39327299
84	DYRK1A	0.38723889
85	TNK2	0.37890623
86	FER	0.37762075
87	CSNK1D	0.37578724
88	PLK1	0.37246954
89	PRKCA	0.35452163
90	DYRK3	0.35316008
91	MAPKAPK5	0.35196324
92	IGF1R	0.34196620
93	PRKG1	0.33457138
94	RPS6KA5	0.31198309
95	CAMK1	0.30678502
96	PRKCZ	0.30554748
97	FLT3	0.30195061
98	KIT	0.29275002
99	ATR	0.28096359
100	TSSK6	0.27199264

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.80358388
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.68646230
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.59696713
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.50771499
5	Butanoate metabolism_Homo sapiens_hsa00650	2.40299184
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.30007253
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.27219334
8	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.26014717
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.22578657
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.18686717
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.17752356
12	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.16286828
13	Oxidative phosphorylation_Homo sapiens_hsa00190	2.14742848
14	Caffeine metabolism_Homo sapiens_hsa00232	2.14341602
15	Protein export_Homo sapiens_hsa03060	1.98600854
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.91727299
17	RNA polymerase_Homo sapiens_hsa03020	1.90042490
18	Nicotine addiction_Homo sapiens_hsa05033	1.82076643
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.79900253
20	Basal transcription factors_Homo sapiens_hsa03022	1.77844569
21	Homologous recombination_Homo sapiens_hsa03440	1.76925427
22	Ether lipid metabolism_Homo sapiens_hsa00565	1.74480329
23	Tryptophan metabolism_Homo sapiens_hsa00380	1.64952722
24	Parkinsons disease_Homo sapiens_hsa05012	1.60730277
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.47826149
26	Fanconi anemia pathway_Homo sapiens_hsa03460	1.43847285
27	Propanoate metabolism_Homo sapiens_hsa00640	1.42418581
28	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.40432848
29	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.37093268
30	Peroxisome_Homo sapiens_hsa04146	1.36634028
31	Taste transduction_Homo sapiens_hsa04742	1.33422858
32	One carbon pool by folate_Homo sapiens_hsa00670	1.33375300
33	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.31835875
34	RNA degradation_Homo sapiens_hsa03018	1.28465889
35	Regulation of autophagy_Homo sapiens_hsa04140	1.24679703
36	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.22825049
37	Olfactory transduction_Homo sapiens_hsa04740	1.12727045
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.11043355
39	Morphine addiction_Homo sapiens_hsa05032	1.09656819
40	Chemical carcinogenesis_Homo sapiens_hsa05204	1.09273972
41	Proteasome_Homo sapiens_hsa03050	1.07079224
42	Huntingtons disease_Homo sapiens_hsa05016	1.04031837
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01650196
44	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.00477661
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.00391955
46	Cardiac muscle contraction_Homo sapiens_hsa04260	0.95818439
47	Insulin secretion_Homo sapiens_hsa04911	0.95225182
48	ABC transporters_Homo sapiens_hsa02010	0.94527869
49	Retinol metabolism_Homo sapiens_hsa00830	0.94274035
50	Alzheimers disease_Homo sapiens_hsa05010	0.91432854
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.86757759
52	GABAergic synapse_Homo sapiens_hsa04727	0.84405720
53	Collecting duct acid secretion_Homo sapiens_hsa04966	0.79314168
54	Purine metabolism_Homo sapiens_hsa00230	0.79210289
55	Serotonergic synapse_Homo sapiens_hsa04726	0.78502210
56	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.78203045
57	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.76463127
58	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.75884003
59	Circadian entrainment_Homo sapiens_hsa04713	0.75348382
60	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.73723447
61	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.73057614
62	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.72227753
63	Asthma_Homo sapiens_hsa05310	0.72183220
64	Glutamatergic synapse_Homo sapiens_hsa04724	0.71859772
65	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.71808147
66	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.70940606
67	Fat digestion and absorption_Homo sapiens_hsa04975	0.68995033
68	Type I diabetes mellitus_Homo sapiens_hsa04940	0.66194657
69	Primary immunodeficiency_Homo sapiens_hsa05340	0.66147884
70	Metabolic pathways_Homo sapiens_hsa01100	0.65104114
71	Pyrimidine metabolism_Homo sapiens_hsa00240	0.65001884
72	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.64419300
73	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.61452188
74	Steroid biosynthesis_Homo sapiens_hsa00100	0.61010188
75	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.60581208
76	Sulfur metabolism_Homo sapiens_hsa00920	0.59935182
77	Graft-versus-host disease_Homo sapiens_hsa05332	0.55567395
78	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.53578284
79	Non-homologous end-joining_Homo sapiens_hsa03450	0.53457732
80	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.53206203
81	Salivary secretion_Homo sapiens_hsa04970	0.52998111
82	Histidine metabolism_Homo sapiens_hsa00340	0.52965619
83	Glycerolipid metabolism_Homo sapiens_hsa00561	0.52961693
84	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.52721943
85	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.52602268
86	Calcium signaling pathway_Homo sapiens_hsa04020	0.51634212
87	Allograft rejection_Homo sapiens_hsa05330	0.51494451
88	Circadian rhythm_Homo sapiens_hsa04710	0.51283454
89	Nucleotide excision repair_Homo sapiens_hsa03420	0.51035089
90	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.49188458
91	Mineral absorption_Homo sapiens_hsa04978	0.48275813
92	Fatty acid degradation_Homo sapiens_hsa00071	0.47281395
93	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.43544061
94	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.43369101
95	Fatty acid metabolism_Homo sapiens_hsa01212	0.40997481
96	Arginine and proline metabolism_Homo sapiens_hsa00330	0.38501400
97	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.38410149
98	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.37994485
99	Ribosome_Homo sapiens_hsa03010	0.35863247
100	Rheumatoid arthritis_Homo sapiens_hsa05323	0.34995097

C2ORF83

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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