ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	6.58911074
2	replication fork processing (GO:0031297)	3.91892151
3	piRNA metabolic process (GO:0034587)	3.85569449
4	respiratory chain complex IV assembly (GO:0008535)	3.74195640
5	protein polyglutamylation (GO:0018095)	3.66453397
6	inositol phosphate catabolic process (GO:0071545)	3.62729277
7	DNA methylation involved in gamete generation (GO:0043046)	3.54786662
8	synapsis (GO:0007129)	3.50887437
9	L-fucose catabolic process (GO:0042355)	3.46813071
10	fucose catabolic process (GO:0019317)	3.46813071
11	L-fucose metabolic process (GO:0042354)	3.46813071
12	resolution of meiotic recombination intermediates (GO:0000712)	3.44699992
13	regulation of meiosis I (GO:0060631)	3.41864569
14	protein K11-linked deubiquitination (GO:0035871)	3.38566921
15	male meiosis (GO:0007140)	3.35918352
16	axoneme assembly (GO:0035082)	3.33137270
17	epithelial cilium movement (GO:0003351)	3.33073059
18	cytochrome complex assembly (GO:0017004)	3.28893541
19	inositol phosphate dephosphorylation (GO:0046855)	3.27338346
20	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.27338346
21	DNA deamination (GO:0045006)	3.25258776
22	cullin deneddylation (GO:0010388)	3.25236654
23	DNA double-strand break processing (GO:0000729)	3.25106577
24	water-soluble vitamin biosynthetic process (GO:0042364)	3.23469850
25	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.22201713
26	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.22201713
27	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.14785851
28	regulation of cilium movement (GO:0003352)	3.12864889
29	regulation of hexokinase activity (GO:1903299)	3.08322553
30	regulation of glucokinase activity (GO:0033131)	3.08322553
31	polyol catabolic process (GO:0046174)	3.07679461
32	behavioral response to ethanol (GO:0048149)	3.03931934
33	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.01752168
34	adaptation of signaling pathway (GO:0023058)	3.01032933
35	neural tube formation (GO:0001841)	3.00368633
36	protein deneddylation (GO:0000338)	2.97137796
37	protein complex biogenesis (GO:0070271)	2.94380431
38	pyrimidine nucleobase catabolic process (GO:0006208)	2.85192905
39	behavioral response to nicotine (GO:0035095)	2.84338207
40	nucleotide transmembrane transport (GO:1901679)	2.84117719
41	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.83598174
42	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.83301391
43	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.83037784
44	proteasome assembly (GO:0043248)	2.82942888
45	positive regulation of mitochondrial fission (GO:0090141)	2.80159931
46	limb bud formation (GO:0060174)	2.79027924
47	mitochondrial respiratory chain complex assembly (GO:0033108)	2.77713930
48	platelet dense granule organization (GO:0060155)	2.74350271
49	nucleobase catabolic process (GO:0046113)	2.70991555
50	proline transport (GO:0015824)	2.70965622
51	preassembly of GPI anchor in ER membrane (GO:0016254)	2.69360721
52	mannosylation (GO:0097502)	2.69183430
53	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.67738533
54	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.67519070
55	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.66605196
56	NADH dehydrogenase complex assembly (GO:0010257)	2.66605196
57	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.66605196
58	male meiosis I (GO:0007141)	2.65910452
59	histone H2A acetylation (GO:0043968)	2.64578573
60	protein K6-linked ubiquitination (GO:0085020)	2.63541470
61	sperm motility (GO:0030317)	2.62398404
62	cilium morphogenesis (GO:0060271)	2.58665330
63	cilium movement (GO:0003341)	2.57784081
64	cornea development in camera-type eye (GO:0061303)	2.57726909
65	recombinational repair (GO:0000725)	2.56700520
66	double-strand break repair via homologous recombination (GO:0000724)	2.55741979
67	prenylation (GO:0097354)	2.54991766
68	protein prenylation (GO:0018342)	2.54991766
69	glycosphingolipid biosynthetic process (GO:0006688)	2.53534296
70	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.51357661
71	intraciliary transport (GO:0042073)	2.51002032
72	reciprocal DNA recombination (GO:0035825)	2.49882528
73	reciprocal meiotic recombination (GO:0007131)	2.49882528
74	cilium organization (GO:0044782)	2.49853190
75	detection of light stimulus involved in visual perception (GO:0050908)	2.49534781
76	detection of light stimulus involved in sensory perception (GO:0050962)	2.49534781
77	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.49444168
78	protein localization to cilium (GO:0061512)	2.48074689
79	S-adenosylmethionine metabolic process (GO:0046500)	2.47993040
80	cilium assembly (GO:0042384)	2.47596152
81	photoreceptor cell maintenance (GO:0045494)	2.46303749
82	somite development (GO:0061053)	2.45569444
83	ketone body metabolic process (GO:1902224)	2.44836281
84	kynurenine metabolic process (GO:0070189)	2.44103496
85	cellular ketone body metabolic process (GO:0046950)	2.42058831
86	tryptophan catabolic process (GO:0006569)	2.41171204
87	indole-containing compound catabolic process (GO:0042436)	2.41171204
88	indolalkylamine catabolic process (GO:0046218)	2.41171204
89	indolalkylamine metabolic process (GO:0006586)	2.39052349
90	multicellular organism reproduction (GO:0032504)	2.38558482
91	single strand break repair (GO:0000012)	2.38392251
92	pseudouridine synthesis (GO:0001522)	2.38263773
93	seminiferous tubule development (GO:0072520)	2.37983125
94	negative regulation of dendrite development (GO:2000171)	2.37623354
95	sympathetic nervous system development (GO:0048485)	2.36010788
96	retinal cone cell development (GO:0046549)	2.35235060
97	negative regulation of telomere maintenance (GO:0032205)	2.35161200
98	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.33855147
99	centriole replication (GO:0007099)	2.32937473
100	anterograde synaptic vesicle transport (GO:0048490)	2.32853922

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.44276918
2	VDR_22108803_ChIP-Seq_LS180_Human	3.26135169
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.17957377
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.80844377
5	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.79179352
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.73548323
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.71023148
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.55786498
9	TAF15_26573619_Chip-Seq_HEK293_Human	2.34148109
10	FUS_26573619_Chip-Seq_HEK293_Human	2.30530140
11	EWS_26573619_Chip-Seq_HEK293_Human	2.24529356
12	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.23322572
13	P300_19829295_ChIP-Seq_ESCs_Human	2.17402444
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.14376096
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.09607202
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.02972926
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.95109773
18	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.94416308
19	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.90573747
20	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.85963201
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.83428614
22	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.81960241
23	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.81134138
24	* ER_23166858_ChIP-Seq_MCF-7_Human	1.80540592
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.79621040
26	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.76812875
27	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.73174676
28	* IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.71356128
29	* CBP_20019798_ChIP-Seq_JUKART_Human	1.71356128
30	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.64683136
31	* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.62755504
32	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.62021080
33	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.60435694
34	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.57163251
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.56720950
36	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.55228278
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.53402389
38	STAT3_23295773_ChIP-Seq_U87_Human	1.50035038
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.49763506
40	AR_25329375_ChIP-Seq_VCAP_Human	1.47495373
41	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.46643944
42	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.46206109
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.45639792
44	TCF4_23295773_ChIP-Seq_U87_Human	1.44188994
45	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.43721282
46	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.43320476
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.43280122
48	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.43060838
49	BCAT_22108803_ChIP-Seq_LS180_Human	1.41847609
50	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.41733579
51	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.41733579
52	ELK1_19687146_ChIP-ChIP_HELA_Human	1.40577599
53	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.39413327
54	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.37756359
55	IRF1_19129219_ChIP-ChIP_H3396_Human	1.35450779
56	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.35432800
57	EZH2_22144423_ChIP-Seq_EOC_Human	1.35234960
58	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.33579660
59	TCF4_22108803_ChIP-Seq_LS180_Human	1.33347460
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.33031257
61	TP53_22573176_ChIP-Seq_HFKS_Human	1.32067265
62	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.31983614
63	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.31591201
64	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30605588
65	MYC_18940864_ChIP-ChIP_HL60_Human	1.29617354
66	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.28491093
67	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.28267122
68	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.23413535
69	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.21876443
70	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21805852
71	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.21805852
72	P53_22387025_ChIP-Seq_ESCs_Mouse	1.21635108
73	VDR_23849224_ChIP-Seq_CD4+_Human	1.20039122
74	CDX2_22108803_ChIP-Seq_LS180_Human	1.18831460
75	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.17739424
76	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.17705197
77	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.17353205
78	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.17333857
79	RUNX2_22187159_ChIP-Seq_PCA_Human	1.16044288
80	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.14489207
81	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.13830918
82	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.13254933
83	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12353425
84	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.11827969
85	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.10749460
86	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.09030598
87	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.08232153
88	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.08168768
89	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.08168768
90	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.06633308
91	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.05908888
92	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.05785070
93	P300_18555785_Chip-Seq_ESCs_Mouse	1.05293417
94	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.04575070
95	* NCOR_22424771_ChIP-Seq_293T_Human	1.01839175
96	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.01757713
97	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.00754591
98	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.99119204
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.98325002
100	HOXB7_26014856_ChIP-Seq_BT474_Human	0.97939460

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.98333001
2	MP0000372_irregular_coat_pigmentation	2.98069259
3	MP0003787_abnormal_imprinting	2.71158899
4	MP0002102_abnormal_ear_morphology	2.51499930
5	MP0003195_calcinosis	2.49858920
6	MP0001529_abnormal_vocalization	2.32537538
7	MP0003880_abnormal_central_pattern	2.24648075
8	MP0008058_abnormal_DNA_repair	2.21013544
9	MP0001984_abnormal_olfaction	2.15314352
10	MP0005551_abnormal_eye_electrophysiolog	2.12998276
11	MP0001968_abnormal_touch/_nociception	2.04135284
12	MP0005253_abnormal_eye_physiology	1.99575518
13	MP0004147_increased_porphyrin_level	1.98134114
14	MP0003718_maternal_effect	1.94248989
15	MP0005646_abnormal_pituitary_gland	1.94175380
16	MP0006276_abnormal_autonomic_nervous	1.87094752
17	MP0000427_abnormal_hair_cycle	1.85908386
18	MP0005645_abnormal_hypothalamus_physiol	1.81872951
19	MP0003121_genomic_imprinting	1.79882468
20	MP0006292_abnormal_olfactory_placode	1.74286912
21	MP0002234_abnormal_pharynx_morphology	1.69306556
22	MP0009046_muscle_twitch	1.64686843
23	MP0002736_abnormal_nociception_after	1.64582563
24	MP0006072_abnormal_retinal_apoptosis	1.63739921
25	MP0003646_muscle_fatigue	1.63343116
26	MP0005075_abnormal_melanosome_morpholog	1.60427953
27	MP0008875_abnormal_xenobiotic_pharmacok	1.60396017
28	MP0005084_abnormal_gallbladder_morpholo	1.59273596
29	MP0008872_abnormal_physiological_respon	1.55906646
30	MP0001486_abnormal_startle_reflex	1.51667640
31	MP0000631_abnormal_neuroendocrine_gland	1.50101642
32	MP0002638_abnormal_pupillary_reflex	1.48883747
33	MP0005410_abnormal_fertilization	1.48425440
34	MP0009745_abnormal_behavioral_response	1.43362527
35	MP0002938_white_spotting	1.43223261
36	MP0002751_abnormal_autonomic_nervous	1.42844602
37	MP0008789_abnormal_olfactory_epithelium	1.42258129
38	MP0001764_abnormal_homeostasis	1.41935606
39	MP0002272_abnormal_nervous_system	1.40920142
40	MP0008057_abnormal_DNA_replication	1.33241111
41	MP0003136_yellow_coat_color	1.31683936
42	MP0003122_maternal_imprinting	1.30431269
43	MP0006035_abnormal_mitochondrial_morpho	1.30206880
44	MP0001485_abnormal_pinna_reflex	1.29003070
45	MP0010094_abnormal_chromosome_stability	1.26871910
46	MP0003011_delayed_dark_adaptation	1.24778165
47	MP0000383_abnormal_hair_follicle	1.23552548
48	MP0005171_absent_coat_pigmentation	1.22181123
49	MP0001929_abnormal_gametogenesis	1.20841006
50	MP0003698_abnormal_male_reproductive	1.17012571
51	MP0002876_abnormal_thyroid_physiology	1.15999918
52	MP0004133_heterotaxia	1.14444617
53	MP0002160_abnormal_reproductive_system	1.12197381
54	MP0000015_abnormal_ear_pigmentation	1.11199901
55	MP0004142_abnormal_muscle_tone	1.10957280
56	MP0006036_abnormal_mitochondrial_physio	1.07178150
57	MP0005647_abnormal_sex_gland	1.05469514
58	MP0002095_abnormal_skin_pigmentation	1.05434776
59	MP0004215_abnormal_myocardial_fiber	1.05137963
60	MP0004885_abnormal_endolymph	1.03490645
61	MP0000778_abnormal_nervous_system	1.03167193
62	MP0005174_abnormal_tail_pigmentation	1.02603420
63	MP0004924_abnormal_behavior	1.02257713
64	MP0005386_behavior/neurological_phenoty	1.02257713
65	MP0002837_dystrophic_cardiac_calcinosis	1.02081986
66	MP0002210_abnormal_sex_determination	1.01569321
67	MP0000569_abnormal_digit_pigmentation	1.00759126
68	MP0004484_altered_response_of	1.00396972
69	MP0010678_abnormal_skin_adnexa	0.99351583
70	MP0001188_hyperpigmentation	0.99243963
71	MP0002067_abnormal_sensory_capabilities	0.97669677
72	MP0005499_abnormal_olfactory_system	0.96823343
73	MP0005394_taste/olfaction_phenotype	0.96823343
74	MP0002229_neurodegeneration	0.96733975
75	MP0010386_abnormal_urinary_bladder	0.96399329
76	MP0004043_abnormal_pH_regulation	0.95201906
77	MP0002572_abnormal_emotion/affect_behav	0.94618649
78	MP0001293_anophthalmia	0.94431252
79	MP0002557_abnormal_social/conspecific_i	0.93530566
80	MP0005389_reproductive_system_phenotype	0.93055264
81	MP0008995_early_reproductive_senescence	0.92874978
82	MP0002064_seizures	0.91975166
83	MP0003786_premature_aging	0.91655552
84	MP0000653_abnormal_sex_gland	0.91345713
85	MP0001986_abnormal_taste_sensitivity	0.91191455
86	MP0004270_analgesia	0.90930963
87	MP0001324_abnormal_eye_pigmentation	0.90503732
88	MP0005395_other_phenotype	0.88620236
89	MP0000647_abnormal_sebaceous_gland	0.87462628
90	MP0001145_abnormal_male_reproductive	0.86456162
91	MP0002184_abnormal_innervation	0.85634636
92	MP0002752_abnormal_somatic_nervous	0.84183239
93	MP0009697_abnormal_copulation	0.84174656
94	MP0003635_abnormal_synaptic_transmissio	0.83270412
95	MP0005195_abnormal_posterior_eye	0.82380569
96	MP0002734_abnormal_mechanical_nocicepti	0.80877823
97	MP0002282_abnormal_trachea_morphology	0.80208446
98	MP0005391_vision/eye_phenotype	0.79309723
99	MP0003186_abnormal_redox_activity	0.77136154
100	MP0002909_abnormal_adrenal_gland	0.75455675

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.89145405
2	Pancreatic fibrosis (HP:0100732)	3.76474824
3	True hermaphroditism (HP:0010459)	3.61623166
4	Molar tooth sign on MRI (HP:0002419)	3.46786934
5	Abnormality of midbrain morphology (HP:0002418)	3.46786934
6	Medial flaring of the eyebrow (HP:0010747)	3.06869974
7	Nephronophthisis (HP:0000090)	3.03637284
8	Attenuation of retinal blood vessels (HP:0007843)	3.02128890
9	Abnormality of the labia minora (HP:0012880)	2.99822392
10	Abnormal rod and cone electroretinograms (HP:0008323)	2.85553306
11	Type II lissencephaly (HP:0007260)	2.81413727
12	Abnormality of the renal cortex (HP:0011035)	2.81183162
13	Congenital stationary night blindness (HP:0007642)	2.79358209
14	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.70776188
15	Absent/shortened dynein arms (HP:0200106)	2.70776188
16	Chronic hepatic failure (HP:0100626)	2.69176727
17	Intestinal atresia (HP:0011100)	2.66108493
18	Abnormality of the renal medulla (HP:0100957)	2.64035595
19	Gaze-evoked nystagmus (HP:0000640)	2.56295989
20	Atonic seizures (HP:0010819)	2.54983655
21	Congenital primary aphakia (HP:0007707)	2.54383032
22	Gait imbalance (HP:0002141)	2.54123649
23	Bile duct proliferation (HP:0001408)	2.52246072
24	Abnormal biliary tract physiology (HP:0012439)	2.52246072
25	Hypothermia (HP:0002045)	2.49883697
26	Ependymoma (HP:0002888)	2.46634640
27	Renal cortical cysts (HP:0000803)	2.45077147
28	Abnormality of macular pigmentation (HP:0008002)	2.44764062
29	Nephrogenic diabetes insipidus (HP:0009806)	2.40442811
30	Cystic liver disease (HP:0006706)	2.38641750
31	Genital tract atresia (HP:0001827)	2.38537451
32	Abolished electroretinogram (ERG) (HP:0000550)	2.32532417
33	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.27090115
34	Cerebellar dysplasia (HP:0007033)	2.26889413
35	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.26758892
36	Pendular nystagmus (HP:0012043)	2.24720435
37	Lissencephaly (HP:0001339)	2.13677606
38	Vaginal atresia (HP:0000148)	2.13104229
39	Broad-based gait (HP:0002136)	2.11860644
40	Acute encephalopathy (HP:0006846)	2.10937244
41	Abnormality of the astrocytes (HP:0100707)	2.10899696
42	Astrocytoma (HP:0009592)	2.10899696
43	Dyschromatopsia (HP:0007641)	2.10695525
44	Poor coordination (HP:0002370)	2.08447554
45	Tubular atrophy (HP:0000092)	2.06083269
46	Sensory axonal neuropathy (HP:0003390)	2.05309580
47	Febrile seizures (HP:0002373)	2.04922818
48	Acute necrotizing encephalopathy (HP:0006965)	2.04392383
49	Polydipsia (HP:0001959)	2.03286154
50	Abnormal drinking behavior (HP:0030082)	2.03286154
51	Type 2 muscle fiber atrophy (HP:0003554)	2.02607703
52	Progressive macrocephaly (HP:0004481)	2.01088689
53	Tubulointerstitial nephritis (HP:0001970)	1.99634766
54	Abnormality of the fovea (HP:0000493)	1.99273763
55	Progressive inability to walk (HP:0002505)	1.99234958
56	Hypoproteinemia (HP:0003075)	1.99084905
57	Sclerocornea (HP:0000647)	1.97797543
58	Methylmalonic acidemia (HP:0002912)	1.97761926
59	Glioma (HP:0009733)	1.97125808
60	Disproportionate short-trunk short stature (HP:0003521)	1.96400208
61	Abnormality of chromosome stability (HP:0003220)	1.96012156
62	Increased CSF lactate (HP:0002490)	1.95733716
63	Anencephaly (HP:0002323)	1.95584608
64	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.94714618
65	Dialeptic seizures (HP:0011146)	1.94227703
66	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.94066378
67	Mitochondrial inheritance (HP:0001427)	1.92024872
68	Progressive cerebellar ataxia (HP:0002073)	1.91332687
69	Abnormality of the ileum (HP:0001549)	1.89715092
70	Volvulus (HP:0002580)	1.89287970
71	Abnormal respiratory epithelium morphology (HP:0012253)	1.88227168
72	Abnormal respiratory motile cilium morphology (HP:0005938)	1.88227168
73	Meckel diverticulum (HP:0002245)	1.86975784
74	Constricted visual fields (HP:0001133)	1.86204784
75	Chorioretinal atrophy (HP:0000533)	1.85220739
76	Postaxial hand polydactyly (HP:0001162)	1.85193261
77	Hypoplasia of the fovea (HP:0007750)	1.81960068
78	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.81960068
79	Pachygyria (HP:0001302)	1.81787531
80	Polyuria (HP:0000103)	1.81485670
81	Bony spicule pigmentary retinopathy (HP:0007737)	1.80902341
82	Decreased central vision (HP:0007663)	1.79826765
83	Focal seizures (HP:0007359)	1.79350524
84	Neoplasm of the adrenal cortex (HP:0100641)	1.79042347
85	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.78941138
86	Inability to walk (HP:0002540)	1.78888649
87	Short tibia (HP:0005736)	1.78825281
88	Colon cancer (HP:0003003)	1.77253625
89	Abnormality of vitamin B metabolism (HP:0004340)	1.76926392
90	Male pseudohermaphroditism (HP:0000037)	1.76910232
91	Postaxial foot polydactyly (HP:0001830)	1.75572466
92	Supernumerary spleens (HP:0009799)	1.74325091
93	Hypomagnesemia (HP:0002917)	1.73681406
94	3-Methylglutaconic aciduria (HP:0003535)	1.73329665
95	Type I transferrin isoform profile (HP:0003642)	1.73251528
96	Astigmatism (HP:0000483)	1.73167960
97	Congenital hepatic fibrosis (HP:0002612)	1.72946624
98	Clubbing of toes (HP:0100760)	1.71881706
99	Abnormal ciliary motility (HP:0012262)	1.71520843
100	Sloping forehead (HP:0000340)	1.70716540

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.30353116
2	TRIM28	3.66470524
3	WNK3	3.14493991
4	PINK1	2.64335232
5	MAP4K2	2.60300898
6	BCR	2.57605615
7	NUAK1	2.49908138
8	EIF2AK3	2.48049790
9	BMPR1B	2.44572401
10	INSRR	2.29446303
11	EIF2AK1	2.24037308
12	ADRBK2	2.04809622
13	ERBB3	1.99330815
14	MST4	1.79154191
15	TNIK	1.75109047
16	MAP3K4	1.62071062
17	ZAK	1.59485391
18	GRK1	1.55331786
19	MAPK13	1.55003608
20	STK39	1.54582192
21	MKNK2	1.47703694
22	ACVR1B	1.47022294
23	OXSR1	1.42777193
24	PLK3	1.41792357
25	TAOK3	1.40940977
26	SIK3	1.40776693
27	PLK2	1.30824960
28	CSNK1G1	1.30387445
29	CSNK1G3	1.28585602
30	EPHA4	1.28251122
31	MKNK1	1.26833376
32	CSNK1G2	1.24897811
33	CSNK1A1L	1.15607092
34	TSSK6	1.13597446
35	STK38L	1.12339034
36	PAK3	1.09815213
37	BRSK2	1.07453388
38	VRK1	1.07376185
39	VRK2	1.03460809
40	MAP2K7	1.02782417
41	PBK	1.02379767
42	SRPK1	0.95253658
43	AKT3	0.92118679
44	STK16	0.91546194
45	MARK1	0.90632387
46	FGFR2	0.89133443
47	MAP3K12	0.87659200
48	MINK1	0.86681259
49	MUSK	0.84305941
50	DYRK2	0.82948282
51	TAF1	0.82405017
52	CASK	0.80875729
53	PRKCE	0.80446306
54	PLK4	0.80330155
55	FER	0.79554631
56	STK3	0.76188023
57	WNK4	0.74907348
58	NTRK3	0.72445371
59	TGFBR1	0.72196675
60	NEK1	0.71005909
61	EIF2AK2	0.70889014
62	TIE1	0.67354674
63	IRAK1	0.66933513
64	PIK3CG	0.63701845
65	TXK	0.63172010
66	PIK3CA	0.62552578
67	TGFBR2	0.60707208
68	PRKCG	0.58731677
69	TEC	0.57270747
70	BUB1	0.54241769
71	ADRBK1	0.53811144
72	BCKDK	0.53543614
73	CAMK2A	0.53395436
74	ATM	0.53053155
75	PLK1	0.49097923
76	MARK3	0.48362797
77	PRKCI	0.48221186
78	GRK5	0.46462058
79	CSNK1A1	0.44887764
80	ATR	0.44017818
81	DAPK1	0.43283750
82	WEE1	0.42964159
83	PDK2	0.42593690
84	TNK2	0.42557202
85	CAMKK2	0.40376970
86	PHKG1	0.40232521
87	PHKG2	0.40232521
88	STK24	0.39383521
89	OBSCN	0.38948610
90	BRD4	0.38189151
91	KSR1	0.35441174
92	PRKG1	0.34627962
93	ABL1	0.34109753
94	DYRK1A	0.31850373
95	CSNK1D	0.31214974
96	PRKACA	0.31085776
97	DYRK3	0.30899845
98	IGF1R	0.30453547
99	RPS6KA4	0.28587369
100	NTRK2	0.28495348

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.94832188
2	Caffeine metabolism_Homo sapiens_hsa00232	2.64920314
3	Non-homologous end-joining_Homo sapiens_hsa03450	2.63014452
4	Phototransduction_Homo sapiens_hsa04744	2.58138863
5	Selenocompound metabolism_Homo sapiens_hsa00450	2.47194067
6	Butanoate metabolism_Homo sapiens_hsa00650	2.32796146
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.31588765
8	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.28230407
9	Propanoate metabolism_Homo sapiens_hsa00640	2.26424596
10	Protein export_Homo sapiens_hsa03060	2.19439915
11	Basal transcription factors_Homo sapiens_hsa03022	2.14267738
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.12642489
13	Homologous recombination_Homo sapiens_hsa03440	2.06999822
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.02717911
15	Proteasome_Homo sapiens_hsa03050	1.98309702
16	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.96338830
17	RNA polymerase_Homo sapiens_hsa03020	1.91478679
18	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.79181526
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.78004798
20	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.66245013
21	Nicotine addiction_Homo sapiens_hsa05033	1.65365768
22	RNA degradation_Homo sapiens_hsa03018	1.63408939
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.61496834
24	Ether lipid metabolism_Homo sapiens_hsa00565	1.60417550
25	Nitrogen metabolism_Homo sapiens_hsa00910	1.58588012
26	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.47257624
27	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.45599589
28	Oxidative phosphorylation_Homo sapiens_hsa00190	1.41418663
29	Olfactory transduction_Homo sapiens_hsa04740	1.38806997
30	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.34836423
31	One carbon pool by folate_Homo sapiens_hsa00670	1.32554518
32	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.27759811
33	Sulfur metabolism_Homo sapiens_hsa00920	1.23690141
34	Fatty acid elongation_Homo sapiens_hsa00062	1.22511424
35	Regulation of autophagy_Homo sapiens_hsa04140	1.18612695
36	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.18343041
37	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.15302270
38	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.12183896
39	Taste transduction_Homo sapiens_hsa04742	1.10824448
40	Steroid biosynthesis_Homo sapiens_hsa00100	1.09604660
41	RNA transport_Homo sapiens_hsa03013	1.08231538
42	Peroxisome_Homo sapiens_hsa04146	1.06017366
43	Parkinsons disease_Homo sapiens_hsa05012	1.05670245
44	Tryptophan metabolism_Homo sapiens_hsa00380	1.02899371
45	Collecting duct acid secretion_Homo sapiens_hsa04966	1.01814102
46	GABAergic synapse_Homo sapiens_hsa04727	0.99618424
47	Mismatch repair_Homo sapiens_hsa03430	0.96839642
48	Purine metabolism_Homo sapiens_hsa00230	0.95823100
49	Morphine addiction_Homo sapiens_hsa05032	0.95431298
50	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.89282940
51	Salivary secretion_Homo sapiens_hsa04970	0.88215678
52	ABC transporters_Homo sapiens_hsa02010	0.86147894
53	Insulin secretion_Homo sapiens_hsa04911	0.83603678
54	Circadian rhythm_Homo sapiens_hsa04710	0.83101504
55	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.80695540
56	Circadian entrainment_Homo sapiens_hsa04713	0.79971745
57	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.79909795
58	Huntingtons disease_Homo sapiens_hsa05016	0.77639544
59	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.76935067
60	Glutamatergic synapse_Homo sapiens_hsa04724	0.75223188
61	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.72538415
62	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.72487243
63	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.72213705
64	Metabolic pathways_Homo sapiens_hsa01100	0.72018456
65	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.71868477
66	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.70425633
67	Nucleotide excision repair_Homo sapiens_hsa03420	0.68715659
68	Chemical carcinogenesis_Homo sapiens_hsa05204	0.67381706
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.67054848
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.65473427
71	Serotonergic synapse_Homo sapiens_hsa04726	0.65270518
72	Pyrimidine metabolism_Homo sapiens_hsa00240	0.63861559
73	Oocyte meiosis_Homo sapiens_hsa04114	0.62007180
74	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.61911683
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.61175512
76	Dopaminergic synapse_Homo sapiens_hsa04728	0.60298416
77	Retinol metabolism_Homo sapiens_hsa00830	0.57132541
78	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.56455503
79	Base excision repair_Homo sapiens_hsa03410	0.54919817
80	Pyruvate metabolism_Homo sapiens_hsa00620	0.53672297
81	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.50865985
82	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.50763780
83	Arginine and proline metabolism_Homo sapiens_hsa00330	0.50407495
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.50181298
85	Glycerolipid metabolism_Homo sapiens_hsa00561	0.47010331
86	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.46820233
87	Alzheimers disease_Homo sapiens_hsa05010	0.46266288
88	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.45898055
89	Lysine degradation_Homo sapiens_hsa00310	0.45257952
90	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.43839526
91	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.43302655
92	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.43154554
93	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.42841839
94	Renin secretion_Homo sapiens_hsa04924	0.41127906
95	Glutathione metabolism_Homo sapiens_hsa00480	0.40613121
96	Amphetamine addiction_Homo sapiens_hsa05031	0.39830880
97	Long-term depression_Homo sapiens_hsa04730	0.39204418
98	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.38750879
99	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.38330560
100	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.37767585

C3ORF49

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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