ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.75631555
2	fucose catabolic process (GO:0019317)	4.67475855
3	L-fucose metabolic process (GO:0042354)	4.67475855
4	L-fucose catabolic process (GO:0042355)	4.67475855
5	DNA deamination (GO:0045006)	4.40588280
6	protein polyglutamylation (GO:0018095)	4.18708975
7	water-soluble vitamin biosynthetic process (GO:0042364)	3.91292867
8	detection of light stimulus involved in sensory perception (GO:0050962)	3.65294591
9	detection of light stimulus involved in visual perception (GO:0050908)	3.65294591
10	regulation of action potential (GO:0098900)	3.59733375
11	platelet dense granule organization (GO:0060155)	3.59186601
12	kynurenine metabolic process (GO:0070189)	3.57492283
13	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.51530330
14	tryptophan catabolic process (GO:0006569)	3.46695244
15	indole-containing compound catabolic process (GO:0042436)	3.46695244
16	indolalkylamine catabolic process (GO:0046218)	3.46695244
17	response to pheromone (GO:0019236)	3.45762642
18	negative regulation of mast cell activation (GO:0033004)	3.36892117
19	regulation of memory T cell differentiation (GO:0043380)	3.36336574
20	negative regulation of telomere maintenance (GO:0032205)	3.34402726
21	neuronal action potential propagation (GO:0019227)	3.34391804
22	neuronal action potential (GO:0019228)	3.29222094
23	cellular ketone body metabolic process (GO:0046950)	3.28727625
24	indolalkylamine metabolic process (GO:0006586)	3.27186213
25	regulation of cilium movement (GO:0003352)	3.27109626
26	axoneme assembly (GO:0035082)	3.23994960
27	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.20343287
28	protein complex biogenesis (GO:0070271)	3.18698930
29	gamma-aminobutyric acid transport (GO:0015812)	3.15005987
30	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.14682882
31	piRNA metabolic process (GO:0034587)	3.13981708
32	positive regulation of action potential (GO:0045760)	3.13329020
33	protein neddylation (GO:0045116)	3.09702005
34	glycerophospholipid catabolic process (GO:0046475)	3.08973385
35	dendritic spine morphogenesis (GO:0060997)	3.05959598
36	ketone body metabolic process (GO:1902224)	2.98909761
37	microtubule severing (GO:0051013)	2.98011871
38	cornea development in camera-type eye (GO:0061303)	2.96952344
39	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.96740683
40	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.96740683
41	NADH dehydrogenase complex assembly (GO:0010257)	2.96740683
42	protein-cofactor linkage (GO:0018065)	2.96024236
43	adaptation of signaling pathway (GO:0023058)	2.94567286
44	serotonin metabolic process (GO:0042428)	2.94350436
45	mitochondrial respiratory chain complex assembly (GO:0033108)	2.93970886
46	preassembly of GPI anchor in ER membrane (GO:0016254)	2.93729078
47	tryptophan metabolic process (GO:0006568)	2.93274234
48	indole-containing compound metabolic process (GO:0042430)	2.88177042
49	synaptic transmission, cholinergic (GO:0007271)	2.88095905
50	primary amino compound metabolic process (GO:1901160)	2.88038142
51	epithelial cilium movement (GO:0003351)	2.87354050
52	kidney morphogenesis (GO:0060993)	2.87009533
53	nonmotile primary cilium assembly (GO:0035058)	2.85458123
54	parturition (GO:0007567)	2.84460376
55	respiratory chain complex IV assembly (GO:0008535)	2.84033255
56	reflex (GO:0060004)	2.82542328
57	somite development (GO:0061053)	2.80747207
58	nephron epithelium morphogenesis (GO:0072088)	2.80387466
59	nephron tubule morphogenesis (GO:0072078)	2.80387466
60	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.80327065
61	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.74991567
62	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.74991567
63	behavioral response to ethanol (GO:0048149)	2.74051726
64	positive regulation of fatty acid transport (GO:2000193)	2.69986335
65	cytochrome complex assembly (GO:0017004)	2.65562047
66	protein localization to cilium (GO:0061512)	2.65454318
67	mannosylation (GO:0097502)	2.64876952
68	regulation of microtubule-based movement (GO:0060632)	2.64684794
69	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.62576715
70	pyrimidine nucleobase catabolic process (GO:0006208)	2.58515580
71	positive regulation of prostaglandin secretion (GO:0032308)	2.57963248
72	cilium morphogenesis (GO:0060271)	2.57655765
73	startle response (GO:0001964)	2.57269752
74	ATP synthesis coupled proton transport (GO:0015986)	2.55911138
75	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.55911138
76	ubiquinone biosynthetic process (GO:0006744)	2.55795523
77	sulfation (GO:0051923)	2.52936969
78	cellular biogenic amine catabolic process (GO:0042402)	2.51710261
79	amine catabolic process (GO:0009310)	2.51710261
80	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.49253060
81	ubiquinone metabolic process (GO:0006743)	2.48924440
82	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.48536207
83	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.48072205
84	neural tube formation (GO:0001841)	2.46473462
85	DNA methylation involved in gamete generation (GO:0043046)	2.45128601
86	photoreceptor cell development (GO:0042461)	2.44861899
87	GPI anchor metabolic process (GO:0006505)	2.43967484
88	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.43428785
89	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.42796121
90	multicellular organism reproduction (GO:0032504)	2.42680270
91	regulation of neurotransmitter uptake (GO:0051580)	2.41775531
92	action potential (GO:0001508)	2.41372705
93	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.41326953
94	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.41283437
95	cilium organization (GO:0044782)	2.40014814
96	cilium movement (GO:0003341)	2.39695443
97	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.38084565
98	auditory receptor cell stereocilium organization (GO:0060088)	2.37942933
99	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.36984745
100	membrane depolarization during action potential (GO:0086010)	2.35154149

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.90743829
2	VDR_22108803_ChIP-Seq_LS180_Human	3.72331906
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.52899892
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.85583629
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.61925805
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.59736144
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.49618984
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.44462968
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.19691159
10	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.12226014
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.10069648
12	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.08540925
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.04244816
14	TAF15_26573619_Chip-Seq_HEK293_Human	1.97146781
15	P300_19829295_ChIP-Seq_ESCs_Human	1.95735968
16	EWS_26573619_Chip-Seq_HEK293_Human	1.94441554
17	FUS_26573619_Chip-Seq_HEK293_Human	1.93666048
18	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.88600112
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.84111731
20	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.83741631
21	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70789538
22	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.70672685
23	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.70130601
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.69729401
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.63791798
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.62677391
27	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.60955912
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.57322272
29	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.57291356
30	REST_21632747_ChIP-Seq_MESCs_Mouse	1.52955361
31	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.52560493
32	MYC_18940864_ChIP-ChIP_HL60_Human	1.51980078
33	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.51567297
34	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.50829411
35	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.45726220
36	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.43864254
37	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.43462496
38	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.42999983
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.42747738
40	AR_25329375_ChIP-Seq_VCAP_Human	1.40439705
41	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.40018012
42	RNF2_27304074_Chip-Seq_NSC_Mouse	1.39863692
43	STAT3_23295773_ChIP-Seq_U87_Human	1.38574173
44	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.37075658
45	CBP_20019798_ChIP-Seq_JUKART_Human	1.35671705
46	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.35671705
47	IRF1_19129219_ChIP-ChIP_H3396_Human	1.35383050
48	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.34456275
49	SMAD4_21799915_ChIP-Seq_A2780_Human	1.33128052
50	TCF4_23295773_ChIP-Seq_U87_Human	1.32926433
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31984706
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.31740908
53	NANOG_19829295_ChIP-Seq_ESCs_Human	1.31248057
54	SOX2_19829295_ChIP-Seq_ESCs_Human	1.31248057
55	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.30294077
56	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.30294077
57	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.30100083
58	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.28695421
59	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.28686113
60	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.27209865
61	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.24528939
62	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24076264
63	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.23648237
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.22490273
65	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.20513204
66	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.20511157
67	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.18276543
68	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.17175742
69	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.16465898
70	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16120632
71	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.16120632
72	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.15994825
73	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.15441756
74	NCOR_22424771_ChIP-Seq_293T_Human	1.15056632
75	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.13081000
76	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12860700
77	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12279305
78	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.12165783
79	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11864399
80	AR_20517297_ChIP-Seq_VCAP_Human	1.11614485
81	* HOXB7_26014856_ChIP-Seq_BT474_Human	1.11028284
82	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.10488349
83	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.09762744
84	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.07123848
85	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.06361520
86	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04854618
87	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04833030
88	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.03207390
89	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.03076433
90	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.01138880
91	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.99024980
92	* MYC_19829295_ChIP-Seq_ESCs_Human	0.98457537
93	AR_21572438_ChIP-Seq_LNCaP_Human	0.98384353
94	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.97727232
95	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.96756941
96	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.96453347
97	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.95343595
98	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.94999839
99	ERA_21632823_ChIP-Seq_H3396_Human	0.93526304
100	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.93477527

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.67698626
2	MP0003195_calcinosis	2.67567946
3	MP0001968_abnormal_touch/_nociception	2.66384052
4	MP0002102_abnormal_ear_morphology	2.61452163
5	MP0006292_abnormal_olfactory_placode	2.41186306
6	MP0005551_abnormal_eye_electrophysiolog	2.30767627
7	MP0000569_abnormal_digit_pigmentation	2.28990863
8	MP0003787_abnormal_imprinting	2.26592532
9	MP0002736_abnormal_nociception_after	2.22111049
10	MP0001986_abnormal_taste_sensitivity	2.15778425
11	MP0009745_abnormal_behavioral_response	2.15072370
12	MP0003011_delayed_dark_adaptation	2.14545365
13	MP0005645_abnormal_hypothalamus_physiol	2.12286161
14	MP0009046_muscle_twitch	2.08732467
15	MP0004885_abnormal_endolymph	2.00012387
16	MP0002837_dystrophic_cardiac_calcinosis	1.98362774
17	MP0006072_abnormal_retinal_apoptosis	1.97941112
18	MP0002138_abnormal_hepatobiliary_system	1.93809271
19	MP0005084_abnormal_gallbladder_morpholo	1.92069532
20	MP0002876_abnormal_thyroid_physiology	1.90506263
21	MP0008872_abnormal_physiological_respon	1.89417330
22	MP0002272_abnormal_nervous_system	1.86535309
23	MP0004142_abnormal_muscle_tone	1.85033057
24	MP0003880_abnormal_central_pattern	1.79755818
25	MP0002653_abnormal_ependyma_morphology	1.79536227
26	MP0004147_increased_porphyrin_level	1.79334561
27	MP0001501_abnormal_sleep_pattern	1.74417062
28	MP0008875_abnormal_xenobiotic_pharmacok	1.74374283
29	MP0005253_abnormal_eye_physiology	1.68267870
30	MP0003136_yellow_coat_color	1.67942875
31	MP0002638_abnormal_pupillary_reflex	1.67264871
32	MP0000372_irregular_coat_pigmentation	1.65537104
33	MP0003646_muscle_fatigue	1.64882297
34	MP0004742_abnormal_vestibular_system	1.62853203
35	MP0001486_abnormal_startle_reflex	1.59861579
36	MP0005646_abnormal_pituitary_gland	1.54973370
37	MP0004133_heterotaxia	1.54326124
38	MP0002938_white_spotting	1.52776706
39	MP0001529_abnormal_vocalization	1.52723835
40	MP0001485_abnormal_pinna_reflex	1.51422330
41	MP0002163_abnormal_gland_morphology	1.46746100
42	MP0000427_abnormal_hair_cycle	1.46343844
43	MP0006276_abnormal_autonomic_nervous	1.46255572
44	MP0002064_seizures	1.44074902
45	MP0002572_abnormal_emotion/affect_behav	1.43009434
46	MP0002735_abnormal_chemical_nociception	1.40354236
47	MP0003122_maternal_imprinting	1.39118166
48	MP0002733_abnormal_thermal_nociception	1.35773292
49	MP0000631_abnormal_neuroendocrine_gland	1.35177666
50	MP0002557_abnormal_social/conspecific_i	1.35135551
51	MP0004043_abnormal_pH_regulation	1.34330159
52	MP0010386_abnormal_urinary_bladder	1.34042088
53	MP0001970_abnormal_pain_threshold	1.31723945
54	MP0001905_abnormal_dopamine_level	1.27758517
55	MP0002277_abnormal_respiratory_mucosa	1.22289594
56	MP0003635_abnormal_synaptic_transmissio	1.21212713
57	MP0002067_abnormal_sensory_capabilities	1.21202119
58	MP0002928_abnormal_bile_duct	1.20769615
59	MP0001984_abnormal_olfaction	1.20546169
60	MP0004924_abnormal_behavior	1.18255833
61	MP0005386_behavior/neurological_phenoty	1.18255833
62	MP0002063_abnormal_learning/memory/cond	1.17054255
63	MP0002734_abnormal_mechanical_nocicepti	1.16646581
64	MP0002234_abnormal_pharynx_morphology	1.16279437
65	MP0005174_abnormal_tail_pigmentation	1.15203922
66	MP0002909_abnormal_adrenal_gland	1.10919260
67	MP0003121_genomic_imprinting	1.07711620
68	MP0005389_reproductive_system_phenotype	1.05532330
69	MP0002822_catalepsy	1.01386314
70	MP0005085_abnormal_gallbladder_physiolo	1.01162391
71	MP0005379_endocrine/exocrine_gland_phen	0.98462293
72	MP0003890_abnormal_embryonic-extraembry	0.98284755
73	MP0002160_abnormal_reproductive_system	0.98284329
74	MP0005195_abnormal_posterior_eye	0.97375721
75	MP0005377_hearing/vestibular/ear_phenot	0.96985250
76	MP0003878_abnormal_ear_physiology	0.96985250
77	MP0003252_abnormal_bile_duct	0.94696370
78	MP0002751_abnormal_autonomic_nervous	0.93733564
79	MP0000026_abnormal_inner_ear	0.92927009
80	MP0000778_abnormal_nervous_system	0.92685798
81	MP0005410_abnormal_fertilization	0.91457703
82	MP0003718_maternal_effect	0.91153190
83	MP0002752_abnormal_somatic_nervous	0.90971129
84	MP0004145_abnormal_muscle_electrophysio	0.90074137
85	MP0003283_abnormal_digestive_organ	0.88181731
86	MP0008789_abnormal_olfactory_epithelium	0.87579862
87	MP0002184_abnormal_innervation	0.86093178
88	MP0002095_abnormal_skin_pigmentation	0.82632048
89	MP0001919_abnormal_reproductive_system	0.82364639
90	MP0005332_abnormal_amino_acid	0.81999115
91	MP0003137_abnormal_impulse_conducting	0.80915728
92	MP0000230_abnormal_systemic_arterial	0.80196469
93	MP0002693_abnormal_pancreas_physiology	0.80171634
94	MP0008775_abnormal_heart_ventricle	0.78518316
95	MP0001502_abnormal_circadian_rhythm	0.78435534
96	MP0001324_abnormal_eye_pigmentation	0.77551704
97	MP0001963_abnormal_hearing_physiology	0.76840364
98	MP0005075_abnormal_melanosome_morpholog	0.76156145
99	MP0001293_anophthalmia	0.72197500
100	MP0000538_abnormal_urinary_bladder	0.71184141

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of midbrain morphology (HP:0002418)	4.46288447
2	Molar tooth sign on MRI (HP:0002419)	4.46288447
3	Pancreatic cysts (HP:0001737)	4.31163661
4	Pancreatic fibrosis (HP:0100732)	3.86133960
5	Nephronophthisis (HP:0000090)	3.72546169
6	True hermaphroditism (HP:0010459)	3.71796021
7	Congenital stationary night blindness (HP:0007642)	3.62339001
8	Abnormality of the renal cortex (HP:0011035)	3.25665412
9	Type II lissencephaly (HP:0007260)	3.19613767
10	Abnormality of the renal medulla (HP:0100957)	3.11680942
11	Inability to walk (HP:0002540)	3.09893524
12	Medial flaring of the eyebrow (HP:0010747)	2.98436829
13	Abolished electroretinogram (ERG) (HP:0000550)	2.79620241
14	Pendular nystagmus (HP:0012043)	2.75574552
15	Hyperventilation (HP:0002883)	2.69123031
16	Chronic hepatic failure (HP:0100626)	2.57967506
17	Cystic liver disease (HP:0006706)	2.55133242
18	Congenital, generalized hypertrichosis (HP:0004540)	2.54575890
19	Tubular atrophy (HP:0000092)	2.52189199
20	3-Methylglutaconic aciduria (HP:0003535)	2.50228639
21	Focal motor seizures (HP:0011153)	2.50009281
22	Abnormal drinking behavior (HP:0030082)	2.49288950
23	Polydipsia (HP:0001959)	2.49288950
24	Renal cortical cysts (HP:0000803)	2.48261738
25	Progressive inability to walk (HP:0002505)	2.47053979
26	Hypothermia (HP:0002045)	2.36884410
27	Attenuation of retinal blood vessels (HP:0007843)	2.36225951
28	Large for gestational age (HP:0001520)	2.34225124
29	Gait imbalance (HP:0002141)	2.34036799
30	Sclerocornea (HP:0000647)	2.31597969
31	Broad-based gait (HP:0002136)	2.31353006
32	Abnormal rod and cone electroretinograms (HP:0008323)	2.30176287
33	Progressive cerebellar ataxia (HP:0002073)	2.28417123
34	Hemiparesis (HP:0001269)	2.28141071
35	Methylmalonic acidemia (HP:0002912)	2.26316049
36	Genetic anticipation (HP:0003743)	2.23916451
37	Gaze-evoked nystagmus (HP:0000640)	2.23900475
38	Lissencephaly (HP:0001339)	2.20743432
39	Stomach cancer (HP:0012126)	2.20113106
40	Keratoconus (HP:0000563)	2.19472314
41	Increased corneal curvature (HP:0100692)	2.19472314
42	Congenital primary aphakia (HP:0007707)	2.18934580
43	Mitochondrial inheritance (HP:0001427)	2.18571019
44	Abnormality of the pons (HP:0007361)	2.15663875
45	Acute necrotizing encephalopathy (HP:0006965)	2.15142820
46	Abnormality of alanine metabolism (HP:0010916)	2.11055092
47	Hyperalaninemia (HP:0003348)	2.11055092
48	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.11055092
49	Abnormality of the labia minora (HP:0012880)	2.10573262
50	Hypomagnesemia (HP:0002917)	2.09620218
51	Anencephaly (HP:0002323)	2.08836198
52	Cerebellar dysplasia (HP:0007033)	2.08810254
53	Polyuria (HP:0000103)	2.08373719
54	Furrowed tongue (HP:0000221)	2.08230075
55	Optic nerve hypoplasia (HP:0000609)	2.05395349
56	Nephrogenic diabetes insipidus (HP:0009806)	2.05078006
57	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.04569494
58	Abnormal biliary tract physiology (HP:0012439)	2.04208301
59	Bile duct proliferation (HP:0001408)	2.04208301
60	Febrile seizures (HP:0002373)	2.04024289
61	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.03498646
62	Absent speech (HP:0001344)	2.03388767
63	Increased CSF lactate (HP:0002490)	2.02953878
64	Abnormal respiratory motile cilium morphology (HP:0005938)	2.02512893
65	Abnormal respiratory epithelium morphology (HP:0012253)	2.02512893
66	Dialeptic seizures (HP:0011146)	2.01903529
67	Focal seizures (HP:0007359)	2.01635240
68	Postaxial foot polydactyly (HP:0001830)	2.01553391
69	Bilateral microphthalmos (HP:0007633)	2.01348155
70	Acute encephalopathy (HP:0006846)	2.01181922
71	Genital tract atresia (HP:0001827)	2.00169398
72	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.99771718
73	Progressive macrocephaly (HP:0004481)	1.99063533
74	Hypoplasia of the pons (HP:0012110)	1.97556351
75	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.96752309
76	Congenital hepatic fibrosis (HP:0002612)	1.95619709
77	Absent/shortened dynein arms (HP:0200106)	1.95284818
78	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.95284818
79	Thyroid-stimulating hormone excess (HP:0002925)	1.93487242
80	Hepatocellular necrosis (HP:0001404)	1.91190330
81	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.90186760
82	Concave nail (HP:0001598)	1.89926387
83	Vaginal atresia (HP:0000148)	1.89417237
84	Hepatic necrosis (HP:0002605)	1.88502899
85	Intestinal atresia (HP:0011100)	1.87802382
86	Pachygyria (HP:0001302)	1.86915555
87	Agitation (HP:0000713)	1.86614412
88	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.82927103
89	Severe muscular hypotonia (HP:0006829)	1.82623974
90	Male pseudohermaphroditism (HP:0000037)	1.82047781
91	Decreased central vision (HP:0007663)	1.80746043
92	Bony spicule pigmentary retinopathy (HP:0007737)	1.80629047
93	Increased serum lactate (HP:0002151)	1.78122958
94	Tachypnea (HP:0002789)	1.77819462
95	Decreased circulating renin level (HP:0003351)	1.76962422
96	Patellar aplasia (HP:0006443)	1.75978522
97	Aplasia/Hypoplasia of the patella (HP:0006498)	1.75060948
98	Abnormal mitochondria in muscle tissue (HP:0008316)	1.74887044
99	Methylmalonic aciduria (HP:0012120)	1.73672848
100	Optic disc pallor (HP:0000543)	1.71869080

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.65883226
2	ADRBK2	3.20066930
3	WNK3	3.18398356
4	GRK1	2.82678276
5	WNK4	2.76807114
6	MAP4K2	2.74233726
7	BMPR1B	2.65408175
8	PINK1	2.55791150
9	ZAK	2.50940410
10	TLK1	2.30043694
11	NUAK1	2.29039123
12	TXK	2.14540928
13	TAOK3	2.04557540
14	CASK	1.94334126
15	MAPK13	1.94314486
16	OXSR1	1.87183408
17	STK39	1.77510714
18	INSRR	1.66452272
19	DYRK2	1.57087291
20	MARK1	1.47756007
21	PAK3	1.43279289
22	TNIK	1.39495100
23	PNCK	1.36390194
24	ACVR1B	1.31642435
25	CDK19	1.28602251
26	MAP3K4	1.27607851
27	TIE1	1.27090266
28	DAPK2	1.19662975
29	MKNK2	1.16864886
30	TRIM28	1.13374526
31	PHKG1	1.07292008
32	PHKG2	1.07292008
33	ADRBK1	1.06287563
34	BCR	1.05962778
35	MAP2K7	1.03150403
36	TGFBR1	1.02151913
37	PRKCG	1.00559942
38	PIK3CA	0.98533568
39	BCKDK	0.96423678
40	CAMKK2	0.95041194
41	CSNK1G2	0.93304816
42	PRKCE	0.91415354
43	MST4	0.89337304
44	CSNK1G1	0.87483194
45	NME1	0.85498826
46	SIK2	0.85360744
47	VRK2	0.84733753
48	MAPKAPK3	0.84730137
49	MAPK15	0.84099079
50	STK16	0.81671922
51	VRK1	0.80770950
52	CSNK1G3	0.79873776
53	NTRK3	0.77289032
54	NTRK2	0.74731931
55	IKBKB	0.74397260
56	EPHB2	0.73633363
57	PLK2	0.69616235
58	PRKCQ	0.69375472
59	MAP2K6	0.64065508
60	GRK7	0.59140832
61	CAMK2A	0.58819451
62	PTK2B	0.57986511
63	KIT	0.57363165
64	CAMK1	0.57109563
65	CSNK1A1L	0.56799536
66	RPS6KA5	0.54230855
67	TEC	0.51791889
68	PRKACA	0.51388777
69	EIF2AK3	0.50612135
70	PASK	0.47392518
71	OBSCN	0.46712678
72	PKN1	0.44898428
73	MKNK1	0.44024389
74	ERBB3	0.43536648
75	STK11	0.43196111
76	CSNK1A1	0.43152229
77	STK38L	0.42592687
78	PLK3	0.42290211
79	PRKCI	0.40021155
80	FGFR2	0.39974412
81	ITK	0.39104954
82	PRKCZ	0.39019974
83	FER	0.38421901
84	EPHA4	0.37684503
85	CHUK	0.37217402
86	SYK	0.36936416
87	PRKCA	0.34870113
88	EPHA3	0.34550302
89	GRK5	0.33944863
90	MUSK	0.33236088
91	CSNK1D	0.32931279
92	MAPKAPK5	0.32053428
93	MATK	0.31364248
94	CAMK4	0.31295812
95	PRKG1	0.30914123
96	CAMK2D	0.29601905
97	NLK	0.28564407
98	STK3	0.28360760
99	IGF1R	0.28345498
100	MAP2K2	0.28186124

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Linoleic acid metabolism_Homo sapiens_hsa00591	2.75992274
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.64891601
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.60799084
4	Phototransduction_Homo sapiens_hsa04744	2.46068115
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.45822499
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.38011745
7	Nicotine addiction_Homo sapiens_hsa05033	2.29576866
8	Butanoate metabolism_Homo sapiens_hsa00650	2.21911711
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.19066062
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.11750155
11	Nitrogen metabolism_Homo sapiens_hsa00910	2.08962138
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.03552992
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.02807251
14	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.99512034
15	Protein export_Homo sapiens_hsa03060	1.88430937
16	Selenocompound metabolism_Homo sapiens_hsa00450	1.85224956
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.85141808
18	Parkinsons disease_Homo sapiens_hsa05012	1.83583685
19	Ether lipid metabolism_Homo sapiens_hsa00565	1.79216286
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.63472102
21	RNA polymerase_Homo sapiens_hsa03020	1.61612015
22	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.57345807
23	Cardiac muscle contraction_Homo sapiens_hsa04260	1.50697740
24	Basal transcription factors_Homo sapiens_hsa03022	1.50581431
25	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.50522914
26	Caffeine metabolism_Homo sapiens_hsa00232	1.50004168
27	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.39821228
28	Taste transduction_Homo sapiens_hsa04742	1.39551501
29	Homologous recombination_Homo sapiens_hsa03440	1.37037223
30	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.36151871
31	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.35193444
32	Asthma_Homo sapiens_hsa05310	1.34665046
33	Morphine addiction_Homo sapiens_hsa05032	1.31756042
34	Olfactory transduction_Homo sapiens_hsa04740	1.30753095
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.20847106
36	Propanoate metabolism_Homo sapiens_hsa00640	1.19011281
37	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.14833730
38	Alzheimers disease_Homo sapiens_hsa05010	1.14127103
39	Huntingtons disease_Homo sapiens_hsa05016	1.13656003
40	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.11480535
41	Chemical carcinogenesis_Homo sapiens_hsa05204	1.10825955
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.10629748
43	Insulin secretion_Homo sapiens_hsa04911	1.10361964
44	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.09414381
45	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.04778384
46	Peroxisome_Homo sapiens_hsa04146	1.04305543
47	Type I diabetes mellitus_Homo sapiens_hsa04940	0.98942912
48	GABAergic synapse_Homo sapiens_hsa04727	0.97641841
49	Retinol metabolism_Homo sapiens_hsa00830	0.97435521
50	RNA degradation_Homo sapiens_hsa03018	0.96548811
51	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.96294492
52	Serotonergic synapse_Homo sapiens_hsa04726	0.95539287
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.91958973
54	Glutamatergic synapse_Homo sapiens_hsa04724	0.91834978
55	Circadian entrainment_Homo sapiens_hsa04713	0.89762371
56	Ribosome_Homo sapiens_hsa03010	0.88871120
57	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.87548204
58	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.87498065
59	Primary immunodeficiency_Homo sapiens_hsa05340	0.86485020
60	Allograft rejection_Homo sapiens_hsa05330	0.82343608
61	Regulation of autophagy_Homo sapiens_hsa04140	0.80357354
62	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.80209764
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.78020504
64	One carbon pool by folate_Homo sapiens_hsa00670	0.76239058
65	Fat digestion and absorption_Homo sapiens_hsa04975	0.74648710
66	Graft-versus-host disease_Homo sapiens_hsa05332	0.72949903
67	Collecting duct acid secretion_Homo sapiens_hsa04966	0.71079718
68	Sulfur metabolism_Homo sapiens_hsa00920	0.69253589
69	ABC transporters_Homo sapiens_hsa02010	0.67373098
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66287401
71	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.65900212
72	Salivary secretion_Homo sapiens_hsa04970	0.65483427
73	Mineral absorption_Homo sapiens_hsa04978	0.63361642
74	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.63043572
75	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.61483297
76	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.61387815
77	Metabolic pathways_Homo sapiens_hsa01100	0.60098620
78	Calcium signaling pathway_Homo sapiens_hsa04020	0.57008535
79	Fatty acid elongation_Homo sapiens_hsa00062	0.56576478
80	Purine metabolism_Homo sapiens_hsa00230	0.56523437
81	Proteasome_Homo sapiens_hsa03050	0.54255362
82	Glycerolipid metabolism_Homo sapiens_hsa00561	0.53016124
83	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.51053466
84	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.50316099
85	Steroid biosynthesis_Homo sapiens_hsa00100	0.49345376
86	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.48638888
87	Histidine metabolism_Homo sapiens_hsa00340	0.47297505
88	Dopaminergic synapse_Homo sapiens_hsa04728	0.45625036
89	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.44389798
90	Cocaine addiction_Homo sapiens_hsa05030	0.43376292
91	Rheumatoid arthritis_Homo sapiens_hsa05323	0.42972472
92	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.41629638
93	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.40875132
94	Pyrimidine metabolism_Homo sapiens_hsa00240	0.40860582
95	Fatty acid metabolism_Homo sapiens_hsa01212	0.40496293
96	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.40326028
97	Sulfur relay system_Homo sapiens_hsa04122	0.37665080
98	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.35885800
99	Fatty acid degradation_Homo sapiens_hsa00071	0.34429788
100	Amphetamine addiction_Homo sapiens_hsa05031	0.32081129

C8ORF86

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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