ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.67298225
2	regulation of hippo signaling (GO:0035330)	4.85773483
3	L-fucose catabolic process (GO:0042355)	4.34174525
4	fucose catabolic process (GO:0019317)	4.34174525
5	L-fucose metabolic process (GO:0042354)	4.34174525
6	response to pheromone (GO:0019236)	4.02191212
7	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.86646139
8	indolalkylamine metabolic process (GO:0006586)	3.81944988
9	cellular ketone body metabolic process (GO:0046950)	3.65040416
10	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.36282647
11	sperm motility (GO:0030317)	3.33208985
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.33202023
13	epithelial cilium movement (GO:0003351)	3.29165053
14	centriole replication (GO:0007099)	3.28277242
15	axoneme assembly (GO:0035082)	3.27943872
16	regulation of gene silencing by RNA (GO:0060966)	3.27932338
17	regulation of posttranscriptional gene silencing (GO:0060147)	3.27932338
18	regulation of gene silencing by miRNA (GO:0060964)	3.27932338
19	neural tube formation (GO:0001841)	3.19636485
20	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.19007319
21	ketone body metabolic process (GO:1902224)	3.17427037
22	multicellular organism reproduction (GO:0032504)	3.16659587
23	piRNA metabolic process (GO:0034587)	3.15590702
24	protein-cofactor linkage (GO:0018065)	3.11396033
25	indole-containing compound catabolic process (GO:0042436)	3.09467242
26	indolalkylamine catabolic process (GO:0046218)	3.09467242
27	tryptophan catabolic process (GO:0006569)	3.09467242
28	transmission of nerve impulse (GO:0019226)	3.07092803
29	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	3.06323302
30	cilium organization (GO:0044782)	3.05939206
31	intraciliary transport (GO:0042073)	3.05180277
32	tryptophan metabolic process (GO:0006568)	3.04893209
33	water-soluble vitamin biosynthetic process (GO:0042364)	3.03167727
34	cilium movement (GO:0003341)	3.02638807
35	regulation of meiosis I (GO:0060631)	3.02337194
36	cAMP catabolic process (GO:0006198)	3.01717234
37	behavioral response to ethanol (GO:0048149)	3.01258850
38	regulation of male gonad development (GO:2000018)	3.01256784
39	kynurenine metabolic process (GO:0070189)	2.97531861
40	replication fork processing (GO:0031297)	2.93944292
41	DNA deamination (GO:0045006)	2.93703327
42	cilium or flagellum-dependent cell motility (GO:0001539)	2.93592668
43	cornea development in camera-type eye (GO:0061303)	2.92564716
44	cilium assembly (GO:0042384)	2.92450770
45	detection of light stimulus involved in sensory perception (GO:0050962)	2.86954310
46	detection of light stimulus involved in visual perception (GO:0050908)	2.86954310
47	auditory receptor cell stereocilium organization (GO:0060088)	2.86866227
48	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.86747947
49	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.86639734
50	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.86468686
51	pyrimidine nucleobase catabolic process (GO:0006208)	2.84746142
52	negative regulation of telomere maintenance (GO:0032205)	2.80566618
53	platelet dense granule organization (GO:0060155)	2.80445752
54	male meiosis (GO:0007140)	2.76719780
55	acrosome reaction (GO:0007340)	2.76684969
56	inner ear receptor stereocilium organization (GO:0060122)	2.75771637
57	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.74248796
58	C4-dicarboxylate transport (GO:0015740)	2.73425237
59	rRNA catabolic process (GO:0016075)	2.71852003
60	cell wall macromolecule metabolic process (GO:0044036)	2.71733383
61	dopamine transport (GO:0015872)	2.70767207
62	microtubule depolymerization (GO:0007019)	2.70265344
63	spinal cord motor neuron differentiation (GO:0021522)	2.70158977
64	protein polyglutamylation (GO:0018095)	2.70108369
65	protein localization to cilium (GO:0061512)	2.69657197
66	retinal cone cell development (GO:0046549)	2.69584420
67	cyclic nucleotide catabolic process (GO:0009214)	2.67845743
68	rhodopsin mediated signaling pathway (GO:0016056)	2.66858521
69	indole-containing compound metabolic process (GO:0042430)	2.66105476
70	somite development (GO:0061053)	2.65311684
71	inner ear receptor cell development (GO:0060119)	2.63880318
72	nucleobase catabolic process (GO:0046113)	2.63242501
73	negative regulation of mast cell activation (GO:0033004)	2.62218236
74	positive regulation of glomerulus development (GO:0090193)	2.62187368
75	kidney morphogenesis (GO:0060993)	2.61888890
76	forebrain neuron differentiation (GO:0021879)	2.60720489
77	regulation of mesenchymal cell apoptotic process (GO:2001053)	2.60018579
78	positive regulation of meiosis (GO:0045836)	2.59643853
79	regulation of neurotransmitter uptake (GO:0051580)	2.58553051
80	reflex (GO:0060004)	2.58360644
81	embryonic epithelial tube formation (GO:0001838)	2.58013439
82	recombinational repair (GO:0000725)	2.56826647
83	adaptation of signaling pathway (GO:0023058)	2.56429256
84	neuronal action potential (GO:0019228)	2.56316703
85	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.56309434
86	double-strand break repair via homologous recombination (GO:0000724)	2.54563666
87	male meiosis I (GO:0007141)	2.54424145
88	peptidyl-histidine modification (GO:0018202)	2.54405850
89	hindbrain development (GO:0030902)	2.51598890
90	protein K6-linked ubiquitination (GO:0085020)	2.49113015
91	somite rostral/caudal axis specification (GO:0032525)	2.49029146
92	protein K11-linked deubiquitination (GO:0035871)	2.49003701
93	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.48234069
94	adenosine metabolic process (GO:0046085)	2.47315723
95	regulation of glucokinase activity (GO:0033131)	2.47148685
96	regulation of hexokinase activity (GO:1903299)	2.47148685
97	nephron epithelium morphogenesis (GO:0072088)	2.47080806
98	nephron tubule morphogenesis (GO:0072078)	2.47080806
99	exogenous drug catabolic process (GO:0042738)	2.46541098
100	axonemal dynein complex assembly (GO:0070286)	2.46066362

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.11608467
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.70139339
3	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.30113392
4	VDR_22108803_ChIP-Seq_LS180_Human	2.85417200
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.78475283
6	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.71084406
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.37350824
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.30004509
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.27192837
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.26416074
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22234384
12	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.22202841
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21838882
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.14956623
15	P300_19829295_ChIP-Seq_ESCs_Human	2.09761752
16	FUS_26573619_Chip-Seq_HEK293_Human	1.95408500
17	TAF15_26573619_Chip-Seq_HEK293_Human	1.95322296
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.94728799
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.86601054
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.86386629
21	AR_21572438_ChIP-Seq_LNCaP_Human	1.79662462
22	EWS_26573619_Chip-Seq_HEK293_Human	1.71778446
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70060820
24	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.66178634
25	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.66178634
26	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61573946
27	IRF1_19129219_ChIP-ChIP_H3396_Human	1.59853170
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.59225309
29	CBP_20019798_ChIP-Seq_JUKART_Human	1.58215332
30	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.58215332
31	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.57725867
32	AR_25329375_ChIP-Seq_VCAP_Human	1.55627668
33	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.53832625
34	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.48262921
35	BCAT_22108803_ChIP-Seq_LS180_Human	1.48098781
36	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.47917320
37	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.46543744
38	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.46141343
39	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.45566639
40	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.45373384
41	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.45024264
42	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.44759169
43	STAT3_23295773_ChIP-Seq_U87_Human	1.43836854
44	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.42385551
45	SOX2_19829295_ChIP-Seq_ESCs_Human	1.40238506
46	NANOG_19829295_ChIP-Seq_ESCs_Human	1.40238506
47	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.40126420
48	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.39898166
49	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.37704465
50	TCF4_23295773_ChIP-Seq_U87_Human	1.37453429
51	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.37277132
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.35655385
53	REST_21632747_ChIP-Seq_MESCs_Mouse	1.34446487
54	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.32719074
55	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.32719074
56	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.31775876
57	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.30187353
58	RUNX2_22187159_ChIP-Seq_PCA_Human	1.29632705
59	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.29595751
60	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.29086423
61	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.28358540
62	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.26216912
63	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.24075053
64	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.21594639
65	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.20824989
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.20699183
67	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.20370553
68	* NCOR_22424771_ChIP-Seq_293T_Human	1.18982463
69	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.18540894
70	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.18204843
71	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.18197074
72	TCF4_22108803_ChIP-Seq_LS180_Human	1.14750392
73	MYC_18940864_ChIP-ChIP_HL60_Human	1.13961650
74	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.13853297
75	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11916264
76	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.11700220
77	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.10880469
78	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.08117559
79	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.07923532
80	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.07665785
81	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.06858087
82	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.06482452
83	HOXB7_26014856_ChIP-Seq_BT474_Human	1.06300436
84	AR_20517297_ChIP-Seq_VCAP_Human	1.05847552
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03826800
86	RNF2_27304074_Chip-Seq_NSC_Mouse	1.03462189
87	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.03048399
88	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.00576574
89	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.00437633
90	JUN_21703547_ChIP-Seq_K562_Human	1.00392420
91	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.99286958
92	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.97280317
93	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97279420
94	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.97137646
95	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.95873787
96	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.94605090
97	RBPJ_22232070_ChIP-Seq_NCS_Mouse	0.93383923
98	P53_22387025_ChIP-Seq_ESCs_Mouse	0.92793853
99	ELK1_19687146_ChIP-ChIP_HELA_Human	0.92533527
100	NANOG_20526341_ChIP-Seq_ESCs_Human	0.91930723

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003011_delayed_dark_adaptation	2.85587255
2	MP0001501_abnormal_sleep_pattern	2.67854556
3	MP0005551_abnormal_eye_electrophysiolog	2.55269509
4	MP0008872_abnormal_physiological_respon	2.49310327
5	MP0001968_abnormal_touch/_nociception	2.45291933
6	MP0006292_abnormal_olfactory_placode	2.32695544
7	MP0002653_abnormal_ependyma_morphology	2.29746759
8	MP0003136_yellow_coat_color	2.20366985
9	MP0008877_abnormal_DNA_methylation	2.17931968
10	MP0003195_calcinosis	2.17849560
11	MP0006072_abnormal_retinal_apoptosis	2.10205928
12	MP0002876_abnormal_thyroid_physiology	1.96763751
13	MP0002736_abnormal_nociception_after	1.95075819
14	MP0004043_abnormal_pH_regulation	1.91742551
15	MP0003880_abnormal_central_pattern	1.86727104
16	MP0009745_abnormal_behavioral_response	1.86278228
17	MP0005253_abnormal_eye_physiology	1.83759567
18	MP0002272_abnormal_nervous_system	1.78592039
19	MP0002638_abnormal_pupillary_reflex	1.77848770
20	MP0005410_abnormal_fertilization	1.77604097
21	MP0006276_abnormal_autonomic_nervous	1.66966876
22	MP0009046_muscle_twitch	1.64617679
23	MP0004142_abnormal_muscle_tone	1.63105113
24	MP0002735_abnormal_chemical_nociception	1.59040595
25	MP0000631_abnormal_neuroendocrine_gland	1.58711307
26	MP0004133_heterotaxia	1.56067287
27	MP0000427_abnormal_hair_cycle	1.55523164
28	MP0002938_white_spotting	1.53739278
29	MP0009697_abnormal_copulation	1.53581297
30	MP0005174_abnormal_tail_pigmentation	1.52738556
31	MP0004742_abnormal_vestibular_system	1.51011582
32	MP0005646_abnormal_pituitary_gland	1.49924142
33	MP0002102_abnormal_ear_morphology	1.49061295
34	MP0005645_abnormal_hypothalamus_physiol	1.48757742
35	MP0001486_abnormal_startle_reflex	1.48428933
36	MP0003698_abnormal_male_reproductive	1.48220567
37	MP0004885_abnormal_endolymph	1.46975918
38	MP0002733_abnormal_thermal_nociception	1.46534396
39	MP0008875_abnormal_xenobiotic_pharmacok	1.46221713
40	MP0001485_abnormal_pinna_reflex	1.43530018
41	MP0001529_abnormal_vocalization	1.42816928
42	MP0002572_abnormal_emotion/affect_behav	1.42050579
43	MP0000778_abnormal_nervous_system	1.41955528
44	MP0001919_abnormal_reproductive_system	1.40906318
45	MP0005084_abnormal_gallbladder_morpholo	1.38503253
46	MP0005389_reproductive_system_phenotype	1.33118828
47	MP0008995_early_reproductive_senescence	1.32730952
48	MP0003718_maternal_effect	1.31843182
49	MP0002557_abnormal_social/conspecific_i	1.31785901
50	MP0001986_abnormal_taste_sensitivity	1.31187820
51	MP0001873_stomach_inflammation	1.30724235
52	MP0003646_muscle_fatigue	1.30704908
53	MP0002751_abnormal_autonomic_nervous	1.30413211
54	MP0000372_irregular_coat_pigmentation	1.28244068
55	MP0002160_abnormal_reproductive_system	1.28163911
56	MP0002095_abnormal_skin_pigmentation	1.21428328
57	MP0001929_abnormal_gametogenesis	1.21013163
58	MP0000026_abnormal_inner_ear	1.19904367
59	MP0002210_abnormal_sex_determination	1.16872233
60	MP0001970_abnormal_pain_threshold	1.15062925
61	MP0002837_dystrophic_cardiac_calcinosis	1.14951808
62	MP0001324_abnormal_eye_pigmentation	1.13383094
63	MP0008058_abnormal_DNA_repair	1.11704050
64	MP0000383_abnormal_hair_follicle	1.11424491
65	MP0000569_abnormal_digit_pigmentation	1.09714232
66	MP0002067_abnormal_sensory_capabilities	1.09352352
67	MP0002138_abnormal_hepatobiliary_system	1.09325959
68	MP0002734_abnormal_mechanical_nocicepti	1.09291690
69	MP0003786_premature_aging	1.08302925
70	MP0002064_seizures	1.07547215
71	MP0001764_abnormal_homeostasis	1.06667777
72	MP0003635_abnormal_synaptic_transmissio	1.06285046
73	MP0002184_abnormal_innervation	1.05965095
74	MP0005085_abnormal_gallbladder_physiolo	1.04660901
75	MP0001984_abnormal_olfaction	1.03692999
76	MP0000015_abnormal_ear_pigmentation	1.03332592
77	MP0002752_abnormal_somatic_nervous	1.03226369
78	MP0005195_abnormal_posterior_eye	1.02459970
79	MP0002928_abnormal_bile_duct	1.02093509
80	MP0001348_abnormal_lacrimal_gland	1.00789676
81	MP0005167_abnormal_blood-brain_barrier	0.99665421
82	MP0000538_abnormal_urinary_bladder	0.98645928
83	MP0010386_abnormal_urinary_bladder	0.98306929
84	MP0002254_reproductive_system_inflammat	0.97867200
85	MP0000230_abnormal_systemic_arterial	0.96654229
86	MP0003252_abnormal_bile_duct	0.92728316
87	MP0001963_abnormal_hearing_physiology	0.91412147
88	MP0002063_abnormal_learning/memory/cond	0.90830478
89	MP0000049_abnormal_middle_ear	0.89997790
90	MP0000653_abnormal_sex_gland	0.88375090
91	MP0002277_abnormal_respiratory_mucosa	0.88365641
92	MP0002282_abnormal_trachea_morphology	0.87121623
93	MP0001145_abnormal_male_reproductive	0.86338506
94	MP0005423_abnormal_somatic_nervous	0.85300960
95	MP0005365_abnormal_bile_salt	0.84535656
96	MP0005448_abnormal_energy_balance	0.84037397
97	MP0003638_abnormal_response/metabolism_	0.83434536
98	MP0004270_analgesia	0.83040276
99	MP0005386_behavior/neurological_phenoty	0.82835013
100	MP0004924_abnormal_behavior	0.82835013

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type II lissencephaly (HP:0007260)	4.57178407
2	Pancreatic cysts (HP:0001737)	4.25124210
3	True hermaphroditism (HP:0010459)	4.11790631
4	Pancreatic fibrosis (HP:0100732)	4.11273830
5	Hyperventilation (HP:0002883)	3.77053848
6	Nephronophthisis (HP:0000090)	3.76456397
7	Congenital stationary night blindness (HP:0007642)	3.54423315
8	Retinal dysplasia (HP:0007973)	3.53779754
9	Molar tooth sign on MRI (HP:0002419)	3.46274769
10	Abnormality of midbrain morphology (HP:0002418)	3.46274769
11	Abnormality of the renal medulla (HP:0100957)	3.14381898
12	Abolished electroretinogram (ERG) (HP:0000550)	3.11689840
13	Attenuation of retinal blood vessels (HP:0007843)	3.09210759
14	Inability to walk (HP:0002540)	3.04317411
15	Abnormality of the renal cortex (HP:0011035)	3.03952588
16	Large for gestational age (HP:0001520)	2.94098947
17	Abnormality of macular pigmentation (HP:0008002)	2.84812640
18	Chronic hepatic failure (HP:0100626)	2.84636923
19	Tubular atrophy (HP:0000092)	2.84167004
20	Cerebellar dysplasia (HP:0007033)	2.83529643
21	Occipital encephalocele (HP:0002085)	2.73048733
22	Bile duct proliferation (HP:0001408)	2.66768698
23	Abnormal biliary tract physiology (HP:0012439)	2.66768698
24	Absent/shortened dynein arms (HP:0200106)	2.64791667
25	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.64791667
26	Lissencephaly (HP:0001339)	2.59830309
27	Medial flaring of the eyebrow (HP:0010747)	2.58888860
28	Cystic liver disease (HP:0006706)	2.58065877
29	Abnormal ciliary motility (HP:0012262)	2.57842976
30	Thyroid-stimulating hormone excess (HP:0002925)	2.56830597
31	Abnormal rod and cone electroretinograms (HP:0008323)	2.54600212
32	Optic nerve hypoplasia (HP:0000609)	2.50640473
33	Chorioretinal atrophy (HP:0000533)	2.49772215
34	Sclerocornea (HP:0000647)	2.49687116
35	Progressive inability to walk (HP:0002505)	2.48000235
36	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.46637029
37	Facial shape deformation (HP:0011334)	2.43303704
38	Potter facies (HP:0002009)	2.43303704
39	Abnormal respiratory motile cilium morphology (HP:0005938)	2.42437353
40	Abnormal respiratory epithelium morphology (HP:0012253)	2.42437353
41	Keratoconus (HP:0000563)	2.33651053
42	Increased corneal curvature (HP:0100692)	2.33651053
43	Abnormal respiratory motile cilium physiology (HP:0012261)	2.33515004
44	Anencephaly (HP:0002323)	2.33071707
45	Polydipsia (HP:0001959)	2.27791712
46	Abnormal drinking behavior (HP:0030082)	2.27791712
47	Bilateral microphthalmos (HP:0007633)	2.25697273
48	Renal cortical cysts (HP:0000803)	2.23637635
49	Absent speech (HP:0001344)	2.20255283
50	Broad-based gait (HP:0002136)	2.16658934
51	Postaxial foot polydactyly (HP:0001830)	2.14239175
52	Male pseudohermaphroditism (HP:0000037)	2.09547275
53	Mesangial abnormality (HP:0001966)	2.09319517
54	Pendular nystagmus (HP:0012043)	2.09083273
55	Congenital hepatic fibrosis (HP:0002612)	2.08817957
56	Agitation (HP:0000713)	2.08107575
57	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.07072716
58	Hypoplasia of the fovea (HP:0007750)	2.07072716
59	Clumsiness (HP:0002312)	2.06669166
60	Congenital, generalized hypertrichosis (HP:0004540)	2.05771461
61	Rhinitis (HP:0012384)	2.05163159
62	Polyuria (HP:0000103)	2.05154667
63	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.04038063
64	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.03902579
65	Rib fusion (HP:0000902)	2.03347217
66	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.03248099
67	Furrowed tongue (HP:0000221)	2.00634889
68	Genital tract atresia (HP:0001827)	2.00414500
69	Prominent supraorbital ridges (HP:0000336)	1.98584417
70	Abnormality of the ileum (HP:0001549)	1.95354530
71	Abnormality of the pons (HP:0007361)	1.95193372
72	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.93841297
73	3-Methylglutaconic aciduria (HP:0003535)	1.91726955
74	Anophthalmia (HP:0000528)	1.90189782
75	Bony spicule pigmentary retinopathy (HP:0007737)	1.90120168
76	Hypothermia (HP:0002045)	1.89865222
77	Meckel diverticulum (HP:0002245)	1.88370352
78	Pachygyria (HP:0001302)	1.88269707
79	Type I diabetes mellitus (HP:0100651)	1.88228203
80	Oligohydramnios (HP:0001562)	1.87331703
81	Stage 5 chronic kidney disease (HP:0003774)	1.86285922
82	Abnormal urine output (HP:0012590)	1.86235664
83	Constricted visual fields (HP:0001133)	1.85186222
84	Febrile seizures (HP:0002373)	1.84673609
85	Vaginal atresia (HP:0000148)	1.82797400
86	Patellar aplasia (HP:0006443)	1.82235432
87	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.79291299
88	Aplasia/hypoplasia of the uterus (HP:0008684)	1.78081398
89	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.75224578
90	Postaxial hand polydactyly (HP:0001162)	1.74831722
91	Abnormality of alanine metabolism (HP:0010916)	1.74793371
92	Hyperalaninemia (HP:0003348)	1.74793371
93	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.74793371
94	Aplasia/Hypoplasia of the patella (HP:0006498)	1.73996060
95	Hypoplasia of the pons (HP:0012110)	1.73914829
96	Intestinal atresia (HP:0011100)	1.73856081
97	Cone-rod dystrophy (HP:0000548)	1.72871309
98	Abnormality of the carotid arteries (HP:0005344)	1.72035917
99	Dandy-Walker malformation (HP:0001305)	1.71565257
100	Optic disc pallor (HP:0000543)	1.71387369

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.12961862
2	PNCK	3.67525265
3	TRIM28	3.53267750
4	NUAK1	3.31162935
5	MAP4K2	3.20733423
6	INSRR	2.83072380
7	ADRBK2	2.76703291
8	TLK1	2.71634425
9	CAMKK2	2.33923137
10	PINK1	2.24389133
11	ZAK	2.20115888
12	GRK1	2.02152294
13	WNK3	2.00413812
14	WNK4	2.00397657
15	CASK	1.64555231
16	CDC7	1.55669606
17	MAPK13	1.53672103
18	MAP3K4	1.52802564
19	STK39	1.51994731
20	OXSR1	1.47186094
21	TAOK3	1.44352546
22	LATS1	1.38557701
23	TXK	1.38263259
24	WEE1	1.38052862
25	BMPR1B	1.36140991
26	CAMK1G	1.24041288
27	PAK3	1.19995855
28	CAMK1D	1.18722371
29	STK38L	1.17501515
30	IRAK1	1.16934902
31	PLK4	1.16718266
32	MARK1	1.15796691
33	ADRBK1	1.13923715
34	MAPK15	1.09955421
35	MUSK	1.07266837
36	NTRK3	1.06805778
37	BRSK2	1.05080954
38	DAPK2	1.04931955
39	PTK2B	1.03071660
40	MAPKAPK3	1.02726927
41	PRKCG	0.95366170
42	VRK1	0.94056095
43	SIK2	0.88477762
44	ACVR1B	0.83500400
45	CSF1R	0.79409633
46	FLT3	0.76955351
47	PRKCE	0.75231679
48	PLK2	0.73150887
49	TIE1	0.72546594
50	EPHB2	0.72307708
51	CAMK1	0.69929112
52	DYRK2	0.67868653
53	PIK3CG	0.66819053
54	BCR	0.66660468
55	STK11	0.66638012
56	PKN1	0.63608076
57	RPS6KA5	0.63434030
58	MKNK1	0.62696677
59	BCKDK	0.61892365
60	PRKCQ	0.61508144
61	ERBB3	0.60829707
62	VRK2	0.59974692
63	IKBKB	0.59823503
64	MAPKAPK5	0.59332346
65	TAF1	0.59065863
66	MAP2K7	0.58781262
67	IRAK2	0.58652112
68	CHUK	0.56691225
69	PRKD3	0.56527205
70	ATR	0.55817133
71	CSNK1G1	0.55809061
72	CCNB1	0.55656144
73	TEC	0.55544181
74	PHKG1	0.50958001
75	PHKG2	0.50958001
76	PIK3CA	0.50475619
77	CSNK1G2	0.49695106
78	TGFBR1	0.49094211
79	IRAK4	0.48477697
80	STK3	0.47935369
81	CAMK2A	0.47418855
82	PRKG1	0.45618097
83	ERBB2	0.45275225
84	PRKACA	0.45261734
85	NME1	0.44870021
86	IGF1R	0.44766120
87	EPHA4	0.44615480
88	CSNK1G3	0.42982051
89	CAMKK1	0.40314543
90	PLK3	0.39310482
91	PAK6	0.38920415
92	KIT	0.37764405
93	MKNK2	0.36470421
94	PRKCZ	0.35482262
95	GRK5	0.35283473
96	TSSK6	0.33394069
97	FER	0.32337924
98	CSNK1A1L	0.31814980
99	STK38	0.30769301
100	MST4	0.30656797

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.95471118
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.72550833
3	Nitrogen metabolism_Homo sapiens_hsa00910	2.70718970
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.53399743
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.42697147
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.30572393
7	Butanoate metabolism_Homo sapiens_hsa00650	2.19072432
8	Basal transcription factors_Homo sapiens_hsa03022	2.11690874
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.07348965
10	Caffeine metabolism_Homo sapiens_hsa00232	1.99282032
11	Nicotine addiction_Homo sapiens_hsa05033	1.95154876
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.94552907
13	Selenocompound metabolism_Homo sapiens_hsa00450	1.93163570
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.91970845
15	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.85052842
16	Olfactory transduction_Homo sapiens_hsa04740	1.83958919
17	Protein export_Homo sapiens_hsa03060	1.82404678
18	Homologous recombination_Homo sapiens_hsa03440	1.80702748
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.77933093
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.77412189
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.73541505
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.71937944
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.61344421
24	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.46132282
25	Oxidative phosphorylation_Homo sapiens_hsa00190	1.45740490
26	ABC transporters_Homo sapiens_hsa02010	1.42696851
27	Peroxisome_Homo sapiens_hsa04146	1.42108695
28	RNA polymerase_Homo sapiens_hsa03020	1.40676434
29	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.38399704
30	Morphine addiction_Homo sapiens_hsa05032	1.35247619
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.35048127
32	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.31045046
33	Retinol metabolism_Homo sapiens_hsa00830	1.22982708
34	Taste transduction_Homo sapiens_hsa04742	1.22475677
35	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.21845335
36	RNA degradation_Homo sapiens_hsa03018	1.20295641
37	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.17418922
38	Chemical carcinogenesis_Homo sapiens_hsa05204	1.15696468
39	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.14626554
40	Regulation of autophagy_Homo sapiens_hsa04140	1.10019118
41	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.08287268
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.07885513
43	Parkinsons disease_Homo sapiens_hsa05012	1.06549238
44	Histidine metabolism_Homo sapiens_hsa00340	1.05619942
45	Circadian entrainment_Homo sapiens_hsa04713	1.05209978
46	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.04592267
47	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.03188544
48	Salivary secretion_Homo sapiens_hsa04970	1.02916052
49	Propanoate metabolism_Homo sapiens_hsa00640	0.98792395
50	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.89795905
51	GABAergic synapse_Homo sapiens_hsa04727	0.89094964
52	Insulin secretion_Homo sapiens_hsa04911	0.86344823
53	Glutamatergic synapse_Homo sapiens_hsa04724	0.84256279
54	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84128899
55	Cardiac muscle contraction_Homo sapiens_hsa04260	0.83797774
56	Sulfur metabolism_Homo sapiens_hsa00920	0.82805275
57	Calcium signaling pathway_Homo sapiens_hsa04020	0.81317626
58	Glycerolipid metabolism_Homo sapiens_hsa00561	0.80215876
59	Fat digestion and absorption_Homo sapiens_hsa04975	0.79990590
60	Huntingtons disease_Homo sapiens_hsa05016	0.79532822
61	Purine metabolism_Homo sapiens_hsa00230	0.78445725
62	Collecting duct acid secretion_Homo sapiens_hsa04966	0.76860134
63	Serotonergic synapse_Homo sapiens_hsa04726	0.75997228
64	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.73786977
65	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.72577375
66	Asthma_Homo sapiens_hsa05310	0.71742824
67	Circadian rhythm_Homo sapiens_hsa04710	0.71574155
68	Fatty acid metabolism_Homo sapiens_hsa01212	0.70946666
69	Renin-angiotensin system_Homo sapiens_hsa04614	0.68805303
70	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.68323239
71	Long-term depression_Homo sapiens_hsa04730	0.68270885
72	Cocaine addiction_Homo sapiens_hsa05030	0.68145777
73	Amphetamine addiction_Homo sapiens_hsa05031	0.65249206
74	Fatty acid degradation_Homo sapiens_hsa00071	0.64400191
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.60730558
76	beta-Alanine metabolism_Homo sapiens_hsa00410	0.56064540
77	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.54186941
78	Nucleotide excision repair_Homo sapiens_hsa03420	0.53985700
79	Metabolic pathways_Homo sapiens_hsa01100	0.53079135
80	Proteasome_Homo sapiens_hsa03050	0.52668681
81	Alzheimers disease_Homo sapiens_hsa05010	0.51471488
82	Dopaminergic synapse_Homo sapiens_hsa04728	0.51232493
83	Renin secretion_Homo sapiens_hsa04924	0.49571889
84	Primary immunodeficiency_Homo sapiens_hsa05340	0.49522071
85	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.47850295
86	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.47828380
87	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.45222621
88	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.44684461
89	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.41426279
90	One carbon pool by folate_Homo sapiens_hsa00670	0.39584254
91	Mineral absorption_Homo sapiens_hsa04978	0.39014316
92	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.38977433
93	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.38155764
94	cAMP signaling pathway_Homo sapiens_hsa04024	0.37249221
95	Pyrimidine metabolism_Homo sapiens_hsa00240	0.36488456
96	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.35706747
97	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.34486224
98	Non-homologous end-joining_Homo sapiens_hsa03450	0.34339309
99	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.31308653
100	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.31238172

C8ORF74

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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