ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	prenylation (GO:0097354)	5.54471792
2	protein prenylation (GO:0018342)	5.54471792
3	fucose catabolic process (GO:0019317)	5.17895636
4	L-fucose metabolic process (GO:0042354)	5.17895636
5	L-fucose catabolic process (GO:0042355)	5.17895636
6	positive regulation of mitotic sister chromatid separation (GO:1901970)	5.01548037
7	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	5.01548037
8	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	5.01548037
9	preassembly of GPI anchor in ER membrane (GO:0016254)	4.39707642
10	DNA deamination (GO:0045006)	4.26196862
11	proteasome assembly (GO:0043248)	3.75961593
12	water-soluble vitamin biosynthetic process (GO:0042364)	3.67178271
13	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.62150537
14	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.62150537
15	mannosylation (GO:0097502)	3.53960332
16	mitochondrial RNA metabolic process (GO:0000959)	3.43701841
17	DNA double-strand break processing (GO:0000729)	3.42683630
18	cellular ketone body metabolic process (GO:0046950)	3.30150979
19	GPI anchor metabolic process (GO:0006505)	3.25523873
20	rRNA modification (GO:0000154)	3.22201597
21	piRNA metabolic process (GO:0034587)	3.17584059
22	synapsis (GO:0007129)	3.16844979
23	protein import into peroxisome matrix (GO:0016558)	3.15484454
24	response to pheromone (GO:0019236)	3.12268349
25	S-adenosylmethionine metabolic process (GO:0046500)	3.09782092
26	positive regulation of chromosome segregation (GO:0051984)	3.09446902
27	double-strand break repair via homologous recombination (GO:0000724)	3.08026594
28	replication fork processing (GO:0031297)	3.07910420
29	coenzyme catabolic process (GO:0009109)	3.06517397
30	GPI anchor biosynthetic process (GO:0006506)	3.05831154
31	recombinational repair (GO:0000725)	3.05827089
32	ketone body metabolic process (GO:1902224)	3.05003578
33	peptidyl-histidine modification (GO:0018202)	3.04940650
34	maturation of 5.8S rRNA (GO:0000460)	3.04801861
35	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.04499843
36	organelle membrane fusion (GO:0090174)	3.01901399
37	rRNA methylation (GO:0031167)	2.99973917
38	keratinocyte development (GO:0003334)	2.98076025
39	negative regulation of T cell receptor signaling pathway (GO:0050860)	2.96359286
40	autophagic vacuole fusion (GO:0000046)	2.93882774
41	C-terminal protein lipidation (GO:0006501)	2.91535303
42	histone H3-K9 methylation (GO:0051567)	2.88404601
43	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.86184680
44	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.86184680
45	regulation of T cell receptor signaling pathway (GO:0050856)	2.81542372
46	tRNA processing (GO:0008033)	2.81404055
47	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.79603506
48	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.77809552
49	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.74931341
50	tRNA modification (GO:0006400)	2.74775891
51	negative regulation of Ras GTPase activity (GO:0034261)	2.73995370
52	indole-containing compound catabolic process (GO:0042436)	2.73825488
53	indolalkylamine catabolic process (GO:0046218)	2.73825488
54	tryptophan catabolic process (GO:0006569)	2.73825488
55	pseudouridine synthesis (GO:0001522)	2.70811990
56	DNA replication checkpoint (GO:0000076)	2.68968866
57	tryptophan metabolic process (GO:0006568)	2.67677935
58	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.67131311
59	isotype switching (GO:0045190)	2.67131311
60	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.67131311
61	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.63949667
62	oxidative demethylation (GO:0070989)	2.63138135
63	respiratory chain complex IV assembly (GO:0008535)	2.61156036
64	double-strand break repair via nonhomologous end joining (GO:0006303)	2.60828411
65	non-recombinational repair (GO:0000726)	2.60828411
66	C-terminal protein amino acid modification (GO:0018410)	2.60243109
67	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.59968122
68	RNA methylation (GO:0001510)	2.59411966
69	DNA methylation involved in gamete generation (GO:0043046)	2.58738743
70	behavioral response to nicotine (GO:0035095)	2.57423374
71	rRNA catabolic process (GO:0016075)	2.55190437
72	termination of RNA polymerase III transcription (GO:0006386)	2.54865833
73	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.54865833
74	organ growth (GO:0035265)	2.52361617
75	L-methionine biosynthetic process (GO:0071265)	2.52332711
76	amino acid salvage (GO:0043102)	2.52332711
77	L-methionine salvage (GO:0071267)	2.52332711
78	platelet dense granule organization (GO:0060155)	2.51483234
79	protein K6-linked ubiquitination (GO:0085020)	2.51148132
80	inositol phosphate catabolic process (GO:0071545)	2.50936158
81	protein localization to peroxisome (GO:0072662)	2.47543139
82	protein targeting to peroxisome (GO:0006625)	2.47543139
83	establishment of protein localization to peroxisome (GO:0072663)	2.47543139
84	methionine biosynthetic process (GO:0009086)	2.47389198
85	seminiferous tubule development (GO:0072520)	2.47080600
86	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.46940695
87	indolalkylamine metabolic process (GO:0006586)	2.46916905
88	protein sumoylation (GO:0016925)	2.46843121
89	RNA modification (GO:0009451)	2.46185391
90	DNA demethylation (GO:0080111)	2.45661473
91	branched-chain amino acid catabolic process (GO:0009083)	2.44056707
92	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.43569685
93	adenosine metabolic process (GO:0046085)	2.42402007
94	positive regulation of prostaglandin secretion (GO:0032308)	2.41046006
95	tRNA metabolic process (GO:0006399)	2.40951253
96	regulation of glucokinase activity (GO:0033131)	2.39938601
97	regulation of hexokinase activity (GO:1903299)	2.39938601
98	regulation of sister chromatid cohesion (GO:0007063)	2.39542910
99	intracellular pH reduction (GO:0051452)	2.39435798
100	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.39258254

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.42947208
2	VDR_22108803_ChIP-Seq_LS180_Human	3.42403181
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.34937444
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.28356082
5	ZNF274_21170338_ChIP-Seq_K562_Hela	3.19350867
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.87245524
7	* NOTCH1_21737748_ChIP-Seq_TLL_Human	2.81062827
8	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.73419258
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.60616096
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.53623699
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.43588451
12	GATA1_22025678_ChIP-Seq_K562_Human	2.38718049
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.32959823
14	FUS_26573619_Chip-Seq_HEK293_Human	2.17519660
15	ELK1_19687146_ChIP-ChIP_HELA_Human	2.15894050
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.12321585
17	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.10400006
18	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.07641089
19	IGF1R_20145208_ChIP-Seq_DFB_Human	2.07117474
20	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.95301374
21	EWS_26573619_Chip-Seq_HEK293_Human	1.91910303
22	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.89927790
23	IRF1_19129219_ChIP-ChIP_H3396_Human	1.89187356
24	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.86925739
25	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.85656713
26	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.84641404
27	ER_23166858_ChIP-Seq_MCF-7_Human	1.84497490
28	MYC_18940864_ChIP-ChIP_HL60_Human	1.83259020
29	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.78853238
30	FOXP3_21729870_ChIP-Seq_TREG_Human	1.78416525
31	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.76909297
32	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.73844088
33	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.73092271
34	GBX2_23144817_ChIP-Seq_PC3_Human	1.67022819
35	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.65664789
36	BCAT_22108803_ChIP-Seq_LS180_Human	1.60617516
37	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.58447394
38	TAF15_26573619_Chip-Seq_HEK293_Human	1.57096144
39	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.56543679
40	* P300_19829295_ChIP-Seq_ESCs_Human	1.54821368
41	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.50359509
42	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50059718
43	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.48647618
44	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.47484375
45	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.45524573
46	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.43254260
47	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.43254260
48	TP53_22573176_ChIP-Seq_HFKS_Human	1.42533052
49	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.41294412
50	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.41251700
51	CBP_20019798_ChIP-Seq_JUKART_Human	1.41251700
52	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.33347323
53	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32754269
54	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.30338557
55	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.27952401
56	NANOG_19829295_ChIP-Seq_ESCs_Human	1.25321379
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.25321379
58	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.23799902
59	AR_20517297_ChIP-Seq_VCAP_Human	1.23342715
60	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.22915625
61	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.21388554
62	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.20213997
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.18807641
64	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.18712076
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.17476942
66	TCF4_22108803_ChIP-Seq_LS180_Human	1.14085542
67	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.13024307
68	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.12288715
69	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.11957517
70	GATA3_26560356_Chip-Seq_TH1_Human	1.10899947
71	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.08060067
72	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.06616979
73	STAT3_23295773_ChIP-Seq_U87_Human	1.05869027
74	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04198711
75	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03143903
76	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.02700744
77	CDX2_22108803_ChIP-Seq_LS180_Human	1.01745724
78	NCOR_22424771_ChIP-Seq_293T_Human	0.99198505
79	GATA3_26560356_Chip-Seq_TH2_Human	0.99188109
80	TCF4_23295773_ChIP-Seq_U87_Human	0.97780414
81	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97136858
82	* GATA3_21878914_ChIP-Seq_MCF-7_Human	0.96757292
83	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.96464913
84	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.96340397
85	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.96298838
86	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.95150226
87	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.93357961
88	CREB1_15753290_ChIP-ChIP_HEK293T_Human	0.93125302
89	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.92281895
90	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.91335138
91	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.90517078
92	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.90461415
93	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.89979232
94	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.87951658
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.87036788
96	GABP_19822575_ChIP-Seq_HepG2_Human	0.86364898
97	SMAD4_21799915_ChIP-Seq_A2780_Human	0.86185569
98	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.86081570
99	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.85404023
100	P300_18555785_Chip-Seq_ESCs_Mouse	0.85235717

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.92283029
2	MP0008877_abnormal_DNA_methylation	3.66693647
3	MP0008057_abnormal_DNA_replication	2.66995055
4	MP0000566_synostosis	2.65383430
5	MP0002138_abnormal_hepatobiliary_system	2.46500965
6	MP0008058_abnormal_DNA_repair	2.45496237
7	MP0001919_abnormal_reproductive_system	2.40074064
8	MP0002163_abnormal_gland_morphology	2.30163262
9	MP0004147_increased_porphyrin_level	2.27383547
10	MP0005646_abnormal_pituitary_gland	2.25092035
11	MP0002876_abnormal_thyroid_physiology	2.23857237
12	MP0003787_abnormal_imprinting	2.20413906
13	MP0005389_reproductive_system_phenotype	2.19479749
14	MP0002837_dystrophic_cardiac_calcinosis	2.16573755
15	MP0006292_abnormal_olfactory_placode	2.16097582
16	MP0002160_abnormal_reproductive_system	2.11089730
17	MP0000383_abnormal_hair_follicle	2.00238557
18	MP0005645_abnormal_hypothalamus_physiol	1.83121795
19	MP0003718_maternal_effect	1.81845712
20	MP0005379_endocrine/exocrine_gland_phen	1.78275031
21	MP0010678_abnormal_skin_adnexa	1.77461187
22	MP0005551_abnormal_eye_electrophysiolog	1.76027841
23	MP0010094_abnormal_chromosome_stability	1.72262913
24	MP0002638_abnormal_pupillary_reflex	1.64665947
25	MP0006072_abnormal_retinal_apoptosis	1.63955420
26	MP0000427_abnormal_hair_cycle	1.58866144
27	MP0008872_abnormal_physiological_respon	1.58504979
28	MP0005253_abnormal_eye_physiology	1.55778560
29	MP0005075_abnormal_melanosome_morpholog	1.54538336
30	MP0000372_irregular_coat_pigmentation	1.54325926
31	MP0002009_preneoplasia	1.54324710
32	MP0003693_abnormal_embryo_hatching	1.52773635
33	MP0005084_abnormal_gallbladder_morpholo	1.49192634
34	MP0002254_reproductive_system_inflammat	1.47871366
35	MP0005410_abnormal_fertilization	1.47519600
36	MP0005220_abnormal_exocrine_pancreas	1.44870086
37	MP0003786_premature_aging	1.37195277
38	MP0002938_white_spotting	1.32549447
39	MP0001661_extended_life_span	1.32443326
40	MP0002166_altered_tumor_susceptibility	1.30780484
41	MP0001485_abnormal_pinna_reflex	1.29466401
42	MP0001764_abnormal_homeostasis	1.27618408
43	MP0001929_abnormal_gametogenesis	1.20903892
44	MP0003646_muscle_fatigue	1.19869812
45	MP0008995_early_reproductive_senescence	1.19802295
46	MP0004885_abnormal_endolymph	1.18687506
47	MP0001664_abnormal_digestion	1.17766933
48	MP0003011_delayed_dark_adaptation	1.17317894
49	MP0002102_abnormal_ear_morphology	1.16402856
50	MP0008875_abnormal_xenobiotic_pharmacok	1.14526333
51	MP0008007_abnormal_cellular_replicative	1.09894723
52	MP0003252_abnormal_bile_duct	1.08829765
53	MP0002751_abnormal_autonomic_nervous	1.08338274
54	MP0005332_abnormal_amino_acid	1.07771672
55	MP0005174_abnormal_tail_pigmentation	1.04938513
56	MP0002693_abnormal_pancreas_physiology	1.03771487
57	MP0001986_abnormal_taste_sensitivity	1.01784749
58	MP0002210_abnormal_sex_determination	1.01536927
59	MP0005367_renal/urinary_system_phenotyp	1.00919548
60	MP0000516_abnormal_urinary_system	1.00919548
61	MP0001968_abnormal_touch/_nociception	1.00528835
62	MP0004142_abnormal_muscle_tone	0.98911472
63	MP0000653_abnormal_sex_gland	0.98360189
64	MP0001145_abnormal_male_reproductive	0.97799905
65	MP0001873_stomach_inflammation	0.97058452
66	MP0002006_tumorigenesis	0.97056608
67	MP0004043_abnormal_pH_regulation	0.96130781
68	MP0003303_peritoneal_inflammation	0.94675343
69	MP0000613_abnormal_salivary_gland	0.92924502
70	MP0002736_abnormal_nociception_after	0.91056870
71	MP0000013_abnormal_adipose_tissue	0.90896104
72	MP0001119_abnormal_female_reproductive	0.90339953
73	MP0003763_abnormal_thymus_physiology	0.90042343
74	MP0001944_abnormal_pancreas_morphology	0.90005769
75	MP0000470_abnormal_stomach_morphology	0.88121231
76	MP0001545_abnormal_hematopoietic_system	0.87129860
77	MP0005397_hematopoietic_system_phenotyp	0.87129860
78	MP0003698_abnormal_male_reproductive	0.86369975
79	MP0006082_CNS_inflammation	0.86157104
80	MP0006036_abnormal_mitochondrial_physio	0.83630711
81	MP0000631_abnormal_neuroendocrine_gland	0.82904966
82	MP0000467_abnormal_esophagus_morphology	0.82774537
83	MP0003283_abnormal_digestive_organ	0.81968560
84	MP0001663_abnormal_digestive_system	0.80182998
85	MP0001529_abnormal_vocalization	0.79787061
86	MP0002928_abnormal_bile_duct	0.78538378
87	MP0009697_abnormal_copulation	0.75146636
88	MP0002139_abnormal_hepatobiliary_system	0.73187244
89	MP0010329_abnormal_lipoprotein_level	0.72728920
90	MP0001984_abnormal_olfaction	0.71968527
91	MP0000569_abnormal_digit_pigmentation	0.70580292
92	MP0002909_abnormal_adrenal_gland	0.70027246
93	MP0002019_abnormal_tumor_incidence	0.69069078
94	MP0005085_abnormal_gallbladder_physiolo	0.68909491
95	MP0005671_abnormal_response_to	0.67026109
96	MP0002277_abnormal_respiratory_mucosa	0.66006657
97	MP0010234_abnormal_vibrissa_follicle	0.65963853
98	MP0003937_abnormal_limbs/digits/tail_de	0.65470452
99	MP0001727_abnormal_embryo_implantation	0.65370353
100	MP0006035_abnormal_mitochondrial_morpho	0.64049714

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Large for gestational age (HP:0001520)	3.36296903
2	Duplicated collecting system (HP:0000081)	3.30361290
3	Abnormality of the renal collecting system (HP:0004742)	3.29460166
4	Attenuation of retinal blood vessels (HP:0007843)	3.09237426
5	Pancreatic cysts (HP:0001737)	3.03900464
6	Congenital stationary night blindness (HP:0007642)	3.01465569
7	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.94863510
8	Abnormal rod and cone electroretinograms (HP:0008323)	2.94682400
9	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.80470907
10	Methylmalonic acidemia (HP:0002912)	2.78570952
11	Renal cortical cysts (HP:0000803)	2.68421183
12	Acute lymphatic leukemia (HP:0006721)	2.67816777
13	Abnormality of the renal cortex (HP:0011035)	2.67229975
14	Abnormality of midbrain morphology (HP:0002418)	2.66610971
15	Molar tooth sign on MRI (HP:0002419)	2.66610971
16	Pancreatic fibrosis (HP:0100732)	2.64404257
17	Chromsome breakage (HP:0040012)	2.56343787
18	Nephronophthisis (HP:0000090)	2.56083846
19	Hyperglycinuria (HP:0003108)	2.55281750
20	Abnormality of chromosome stability (HP:0003220)	2.50876132
21	Pendular nystagmus (HP:0012043)	2.50282957
22	True hermaphroditism (HP:0010459)	2.44947443
23	Neoplasm of the adrenal cortex (HP:0100641)	2.42543598
24	Abolished electroretinogram (ERG) (HP:0000550)	2.39116498
25	Clubbing of toes (HP:0100760)	2.37746881
26	Abnormal protein glycosylation (HP:0012346)	2.37358374
27	Abnormal glycosylation (HP:0012345)	2.37358374
28	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.37358374
29	Abnormal protein N-linked glycosylation (HP:0012347)	2.37358374
30	Abnormality of the pons (HP:0007361)	2.36751533
31	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.36330702
32	Type II lissencephaly (HP:0007260)	2.31945928
33	Brushfield spots (HP:0001088)	2.31463552
34	Severe muscular hypotonia (HP:0006829)	2.30969616
35	Thyroiditis (HP:0100646)	2.29856363
36	Hypoplasia of the pons (HP:0012110)	2.29597767
37	Abnormality of fatty-acid metabolism (HP:0004359)	2.28689400
38	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.28330197
39	Hypomagnesemia (HP:0002917)	2.23420208
40	Methylmalonic aciduria (HP:0012120)	2.23209709
41	Ketoacidosis (HP:0001993)	2.21472385
42	Type I transferrin isoform profile (HP:0003642)	2.21451072
43	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.21404604
44	Absent/shortened dynein arms (HP:0200106)	2.21404604
45	Abnormality of the renal medulla (HP:0100957)	2.15926507
46	Decreased central vision (HP:0007663)	2.15347380
47	Absent thumb (HP:0009777)	2.15193399
48	Hypothermia (HP:0002045)	2.13225703
49	Gaze-evoked nystagmus (HP:0000640)	2.13039435
50	Abnormal drinking behavior (HP:0030082)	2.10883378
51	Polydipsia (HP:0001959)	2.10883378
52	Ketosis (HP:0001946)	2.10702640
53	Hypoplasia of the fovea (HP:0007750)	2.10499317
54	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.10499317
55	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.10495913
56	Abnormality of alanine metabolism (HP:0010916)	2.10495913
57	Hyperalaninemia (HP:0003348)	2.10495913
58	Meckel diverticulum (HP:0002245)	2.08218239
59	Abnormality of the ileum (HP:0001549)	2.07478840
60	Abnormality of glycine metabolism (HP:0010895)	2.01615829
61	Abnormality of serine family amino acid metabolism (HP:0010894)	2.01615829
62	Acute encephalopathy (HP:0006846)	2.01612729
63	Abnormality of B cell number (HP:0010975)	2.01449825
64	IgG deficiency (HP:0004315)	1.99957667
65	Concave nail (HP:0001598)	1.99919659
66	Tachypnea (HP:0002789)	1.98475316
67	Abnormality of the preputium (HP:0100587)	1.97484879
68	B lymphocytopenia (HP:0010976)	1.95300522
69	Progressive macrocephaly (HP:0004481)	1.94637129
70	Dry hair (HP:0011359)	1.94524050
71	Hyperglycinemia (HP:0002154)	1.94508473
72	Bile duct proliferation (HP:0001408)	1.92941483
73	Abnormal biliary tract physiology (HP:0012439)	1.92941483
74	Lactic acidosis (HP:0003128)	1.90590415
75	Abnormality of macular pigmentation (HP:0008002)	1.90129888
76	Metabolic acidosis (HP:0001942)	1.89754648
77	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.87357213
78	Medial flaring of the eyebrow (HP:0010747)	1.84358555
79	Increased CSF lactate (HP:0002490)	1.84086594
80	Hyperinsulinemic hypoglycemia (HP:0000825)	1.83351076
81	Lipid accumulation in hepatocytes (HP:0006561)	1.83106746
82	Prostate neoplasm (HP:0100787)	1.82395815
83	Mitochondrial inheritance (HP:0001427)	1.81798251
84	Cerebellar dysplasia (HP:0007033)	1.79885118
85	Hypoproteinemia (HP:0003075)	1.79663994
86	Polyuria (HP:0000103)	1.79561909
87	Acute necrotizing encephalopathy (HP:0006965)	1.77816617
88	Aplasia/hypoplasia of the uterus (HP:0008684)	1.77814431
89	Chorioretinal atrophy (HP:0000533)	1.76897345
90	Hepatic necrosis (HP:0002605)	1.76264301
91	Increased serum lactate (HP:0002151)	1.75210927
92	Disproportionate short-trunk short stature (HP:0003521)	1.74366705
93	Bony spicule pigmentary retinopathy (HP:0007737)	1.73501679
94	Carpal bone hypoplasia (HP:0001498)	1.72807504
95	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.70950255
96	Short 1st metacarpal (HP:0010034)	1.70950255
97	Chronic hepatic failure (HP:0100626)	1.70766683
98	Abnormality of the fovea (HP:0000493)	1.70707176
99	Dicarboxylic aciduria (HP:0003215)	1.69654956
100	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.69654956

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MKNK2	6.14758768
2	FRK	5.77220066
3	MKNK1	3.99689204
4	GRK1	3.08184670
5	ADRBK2	2.53246752
6	ZAK	2.43544404
7	TAF1	2.38022758
8	NUAK1	2.12148256
9	EIF2AK3	2.11168436
10	MAP4K2	1.83974817
11	BMPR1B	1.75366316
12	TLK1	1.71689380
13	ACVR1B	1.70070069
14	TRIM28	1.63598202
15	VRK2	1.60064889
16	TAOK1	1.53724316
17	JAK3	1.52555837
18	MAP2K3	1.45103976
19	TAOK3	1.41867943
20	FLT3	1.41263088
21	VRK1	1.34563722
22	PINK1	1.29914599
23	OXSR1	1.25812718
24	MAP3K3	1.24550621
25	INSRR	1.24146471
26	TAOK2	1.19915780
27	PLK3	1.18987343
28	CDC7	1.14234641
29	KIT	1.12306241
30	PLK2	1.10395844
31	FGFR2	1.07130736
32	PBK	1.05829641
33	SRPK1	1.05292911
34	WNK3	1.05212921
35	MST4	1.01816870
36	STK39	0.95722352
37	BRSK2	0.93785943
38	BCKDK	0.91829562
39	WNK4	0.85878661
40	BUB1	0.85517010
41	CAMKK2	0.85496627
42	MAP3K11	0.83904763
43	TNK2	0.83153494
44	TEC	0.82749549
45	EIF2AK1	0.76739335
46	MAPKAPK5	0.75353910
47	CHEK2	0.75005322
48	PRKCQ	0.74008799
49	AKT3	0.70294796
50	MAP3K4	0.68421060
51	DAPK2	0.66752879
52	TNIK	0.63556763
53	PASK	0.63124500
54	NLK	0.62969622
55	NEK2	0.62946817
56	ERBB3	0.61623941
57	RPS6KB2	0.59966816
58	ATR	0.59911879
59	CSNK1G1	0.59593159
60	DYRK1A	0.59487560
61	BMPR2	0.58426907
62	IKBKB	0.58382906
63	PLK4	0.57382568
64	MAP2K6	0.55280901
65	MAPKAPK3	0.55066973
66	PRKCE	0.54998137
67	ABL2	0.54937648
68	IRAK1	0.53641367
69	TTK	0.53546948
70	MAPK13	0.53366104
71	CSNK1G3	0.52775763
72	MAP3K5	0.51487312
73	CDK9	0.51003442
74	PLK1	0.50548486
75	EIF2AK2	0.49801524
76	TSSK6	0.48955287
77	RPS6KA5	0.47548704
78	RPS6KB1	0.46949578
79	ITK	0.45577685
80	TRPM7	0.44480741
81	TXK	0.44140460
82	PRKCI	0.42595948
83	PHKG2	0.42392274
84	PHKG1	0.42392274
85	PIK3CA	0.40398581
86	MAP2K2	0.40206725
87	PDK2	0.38708821
88	GRK6	0.37621342
89	ATM	0.37527979
90	CSNK1G2	0.36609053
91	PTK2B	0.36256188
92	NME1	0.35391306
93	CSNK1A1L	0.35269110
94	WEE1	0.35166488
95	CDK19	0.34035370
96	PRKCG	0.32962141
97	MAP3K1	0.32418025
98	TGFBR1	0.31907443
99	CHUK	0.31668777
100	DAPK1	0.31494302

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.17799158
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.00755600
3	RNA polymerase_Homo sapiens_hsa03020	2.53374414
4	Butanoate metabolism_Homo sapiens_hsa00650	2.32182473
5	Basal transcription factors_Homo sapiens_hsa03022	2.30316993
6	Propanoate metabolism_Homo sapiens_hsa00640	2.29797413
7	Homologous recombination_Homo sapiens_hsa03440	2.26858453
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.23284819
9	Protein export_Homo sapiens_hsa03060	2.19671373
10	Linoleic acid metabolism_Homo sapiens_hsa00591	2.12744345
11	Proteasome_Homo sapiens_hsa03050	2.11986329
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.08351510
13	Non-homologous end-joining_Homo sapiens_hsa03450	2.06209169
14	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.98831854
15	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.98382168
16	One carbon pool by folate_Homo sapiens_hsa00670	1.82496017
17	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.77693488
18	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.76318758
19	Peroxisome_Homo sapiens_hsa04146	1.75167217
20	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.73647804
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.72261600
22	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.68306017
23	Phototransduction_Homo sapiens_hsa04744	1.60439573
24	RNA degradation_Homo sapiens_hsa03018	1.58084102
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.57792235
26	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.49637533
27	Ether lipid metabolism_Homo sapiens_hsa00565	1.48967892
28	Nucleotide excision repair_Homo sapiens_hsa03420	1.48716794
29	Caffeine metabolism_Homo sapiens_hsa00232	1.45683555
30	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.44856910
31	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.36948146
32	Nitrogen metabolism_Homo sapiens_hsa00910	1.34726232
33	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.27856864
34	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.24524495
35	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.20863865
36	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.16878831
37	Primary immunodeficiency_Homo sapiens_hsa05340	1.14436706
38	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.13484284
39	Sulfur metabolism_Homo sapiens_hsa00920	1.13107616
40	Chemical carcinogenesis_Homo sapiens_hsa05204	1.12185732
41	RNA transport_Homo sapiens_hsa03013	1.12012324
42	DNA replication_Homo sapiens_hsa03030	1.11596371
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.11049459
44	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.10337102
45	Fatty acid elongation_Homo sapiens_hsa00062	1.09524727
46	Mismatch repair_Homo sapiens_hsa03430	1.08155235
47	Purine metabolism_Homo sapiens_hsa00230	1.07483695
48	Oxidative phosphorylation_Homo sapiens_hsa00190	1.03474034
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.02619186
50	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.01557933
51	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.01052643
52	Fatty acid degradation_Homo sapiens_hsa00071	1.00519344
53	beta-Alanine metabolism_Homo sapiens_hsa00410	1.00161075
54	Taste transduction_Homo sapiens_hsa04742	0.99424969
55	Pyrimidine metabolism_Homo sapiens_hsa00240	0.99390158
56	Retinol metabolism_Homo sapiens_hsa00830	0.98801648
57	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.98196984
58	Fatty acid metabolism_Homo sapiens_hsa01212	0.96685395
59	ABC transporters_Homo sapiens_hsa02010	0.87701724
60	Type I diabetes mellitus_Homo sapiens_hsa04940	0.87323254
61	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.85883516
62	Lysine degradation_Homo sapiens_hsa00310	0.84627537
63	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.84386626
64	Regulation of autophagy_Homo sapiens_hsa04140	0.84176114
65	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.83679616
66	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.82902336
67	Olfactory transduction_Homo sapiens_hsa04740	0.80726243
68	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.79842503
69	Fat digestion and absorption_Homo sapiens_hsa04975	0.79484090
70	Asthma_Homo sapiens_hsa05310	0.74668579
71	Base excision repair_Homo sapiens_hsa03410	0.74049089
72	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.73430638
73	Metabolic pathways_Homo sapiens_hsa01100	0.72363324
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.70235323
75	Glycerolipid metabolism_Homo sapiens_hsa00561	0.68947641
76	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.67424258
77	Parkinsons disease_Homo sapiens_hsa05012	0.66452770
78	Glutathione metabolism_Homo sapiens_hsa00480	0.62320603
79	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.53685861
80	p53 signaling pathway_Homo sapiens_hsa04115	0.53167129
81	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.50373462
82	Pyruvate metabolism_Homo sapiens_hsa00620	0.49428681
83	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.49147596
84	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.48769498
85	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.47197220
86	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.46208439
87	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.42346906
88	Insulin secretion_Homo sapiens_hsa04911	0.41153418
89	Allograft rejection_Homo sapiens_hsa05330	0.38825354
90	Collecting duct acid secretion_Homo sapiens_hsa04966	0.34526277
91	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.34219616
92	Oocyte meiosis_Homo sapiens_hsa04114	0.32867174
93	Huntingtons disease_Homo sapiens_hsa05016	0.32575323
94	Renin-angiotensin system_Homo sapiens_hsa04614	0.31366292
95	Serotonergic synapse_Homo sapiens_hsa04726	0.30042074
96	Ribosome_Homo sapiens_hsa03010	0.28695047
97	Circadian rhythm_Homo sapiens_hsa04710	0.26987630
98	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.26857279
99	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.26184560
100	Pancreatic secretion_Homo sapiens_hsa04972	0.26043732

C12ORF66

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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