ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	proteasome assembly (GO:0043248)	4.70507793
2	chaperone-mediated protein transport (GO:0072321)	4.30208819
3	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.03266485
4	ribosome assembly (GO:0042255)	3.81057139
5	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.80517183
6	CENP-A containing nucleosome assembly (GO:0034080)	3.75170018
7	chromatin remodeling at centromere (GO:0031055)	3.73023110
8	rRNA modification (GO:0000154)	3.61023817
9	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.46875494
10	cullin deneddylation (GO:0010388)	3.44987518
11	pseudouridine synthesis (GO:0001522)	3.44165820
12	regulation of DNA endoreduplication (GO:0032875)	3.43289932
13	rRNA methylation (GO:0031167)	3.41344986
14	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	3.40842838
15	synapsis (GO:0007129)	3.38909626
16	protein K6-linked ubiquitination (GO:0085020)	3.35505249
17	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.35446453
18	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	3.33043299
19	mitochondrial RNA metabolic process (GO:0000959)	3.28101455
20	metaphase plate congression (GO:0051310)	3.27300351
21	mitotic metaphase plate congression (GO:0007080)	3.27166415
22	purine nucleobase biosynthetic process (GO:0009113)	3.26781353
23	regulation of centriole replication (GO:0046599)	3.26586705
24	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.25164728
25	histone exchange (GO:0043486)	3.24808272
26	ATP synthesis coupled proton transport (GO:0015986)	3.24761687
27	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.24761687
28	DNA replication checkpoint (GO:0000076)	3.22052669
29	DNA strand elongation involved in DNA replication (GO:0006271)	3.21887995
30	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.19960925
31	IMP biosynthetic process (GO:0006188)	3.19202056
32	termination of RNA polymerase III transcription (GO:0006386)	3.17282716
33	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.17282716
34	mitotic sister chromatid cohesion (GO:0007064)	3.14595504
35	negative regulation of ligase activity (GO:0051352)	3.13505921
36	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	3.13505921
37	transcription from mitochondrial promoter (GO:0006390)	3.13455516
38	water-soluble vitamin biosynthetic process (GO:0042364)	3.13087648
39	protein deneddylation (GO:0000338)	3.13023554
40	telomere maintenance via semi-conservative replication (GO:0032201)	3.12884938
41	DNA strand elongation (GO:0022616)	3.09314436
42	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.07568013
43	ribosomal large subunit biogenesis (GO:0042273)	3.07106133
44	replication fork processing (GO:0031297)	3.04503785
45	regulation of meiosis I (GO:0060631)	3.03651884
46	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.01499974
47	regulation of mitotic spindle checkpoint (GO:1903504)	3.01499974
48	histone mRNA metabolic process (GO:0008334)	3.01208803
49	DNA double-strand break processing (GO:0000729)	3.01065334
50	respiratory chain complex IV assembly (GO:0008535)	3.00680146
51	transcription elongation from RNA polymerase I promoter (GO:0006362)	2.98808921
52	nucleobase biosynthetic process (GO:0046112)	2.98088399
53	protein targeting to mitochondrion (GO:0006626)	2.95603811
54	peptidyl-histidine modification (GO:0018202)	2.95159227
55	regulation of cellular amino acid metabolic process (GO:0006521)	2.94888522
56	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.94319650
57	establishment of integrated proviral latency (GO:0075713)	2.93375403
58	regulation of mitochondrial translation (GO:0070129)	2.93230888
59	rRNA processing (GO:0006364)	2.91362328
60	resolution of meiotic recombination intermediates (GO:0000712)	2.91303616
61	protein localization to kinetochore (GO:0034501)	2.89932736
62	positive regulation of ligase activity (GO:0051351)	2.89212253
63	DNA catabolic process, exonucleolytic (GO:0000738)	2.88917153
64	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.88742200
65	rRNA metabolic process (GO:0016072)	2.88620047
66	7-methylguanosine mRNA capping (GO:0006370)	2.88204255
67	IMP metabolic process (GO:0046040)	2.85676406
68	termination of RNA polymerase I transcription (GO:0006363)	2.83590404
69	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.81297485
70	isotype switching (GO:0045190)	2.81297485
71	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.81297485
72	RNA capping (GO:0036260)	2.80135257
73	7-methylguanosine RNA capping (GO:0009452)	2.80135257
74	mitochondrial respiratory chain complex assembly (GO:0033108)	2.79782402
75	protein localization to mitochondrion (GO:0070585)	2.78756384
76	telomere maintenance via recombination (GO:0000722)	2.78253989
77	DNA replication-independent nucleosome assembly (GO:0006336)	2.78137525
78	DNA replication-independent nucleosome organization (GO:0034724)	2.78137525
79	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.75446589
80	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.75446589
81	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.75446589
82	kinetochore organization (GO:0051383)	2.75151356
83	protein neddylation (GO:0045116)	2.74875709
84	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.73879109
85	mitotic recombination (GO:0006312)	2.73740734
86	mitotic sister chromatid segregation (GO:0000070)	2.73136294
87	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.71828301
88	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.71681955
89	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.71681955
90	spindle checkpoint (GO:0031577)	2.71581419
91	reciprocal meiotic recombination (GO:0007131)	2.71266519
92	reciprocal DNA recombination (GO:0035825)	2.71266519
93	protein complex biogenesis (GO:0070271)	2.70791492
94	DNA replication-dependent nucleosome organization (GO:0034723)	2.70387432
95	DNA replication-dependent nucleosome assembly (GO:0006335)	2.70387432
96	spliceosomal snRNP assembly (GO:0000387)	2.70078716
97	regulation of ubiquitin-protein transferase activity (GO:0051438)	2.69485569
98	piRNA metabolic process (GO:0034587)	2.68924173
99	mitotic spindle checkpoint (GO:0071174)	2.68838482
100	inner mitochondrial membrane organization (GO:0007007)	2.68837539

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.82374189
2	E2F7_22180533_ChIP-Seq_HELA_Human	4.69431093
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.98158735
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.48313832
5	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.30051493
6	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.07633054
7	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.96545372
8	ELK1_19687146_ChIP-ChIP_HELA_Human	2.91416871
9	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.82419304
10	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.73828305
11	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.67765938
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.65579186
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.55286168
14	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.49726499
15	VDR_23849224_ChIP-Seq_CD4+_Human	2.37805448
16	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.31590821
17	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.27903577
18	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.26605789
19	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.11000493
20	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.10806991
21	FUS_26573619_Chip-Seq_HEK293_Human	2.10572855
22	PADI4_21655091_ChIP-ChIP_MCF-7_Human	2.08114695
23	FOXP3_21729870_ChIP-Seq_TREG_Human	2.02983527
24	EWS_26573619_Chip-Seq_HEK293_Human	2.02387809
25	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.01139958
26	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.94657121
27	DCP1A_22483619_ChIP-Seq_HELA_Human	1.94246140
28	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.89770597
29	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.88255507
30	MYC_18940864_ChIP-ChIP_HL60_Human	1.71989554
31	TTF2_22483619_ChIP-Seq_HELA_Human	1.71884577
32	AR_21909140_ChIP-Seq_LNCAP_Human	1.68889654
33	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.68599891
34	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.68401618
35	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.68087890
36	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.67327709
37	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.65833670
38	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.64399954
39	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.60668889
40	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.59377706
41	TAF15_26573619_Chip-Seq_HEK293_Human	1.56009039
42	IGF1R_20145208_ChIP-Seq_DFB_Human	1.54365644
43	ZNF274_21170338_ChIP-Seq_K562_Hela	1.52441473
44	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.52198607
45	GABP_19822575_ChIP-Seq_HepG2_Human	1.50112700
46	VDR_22108803_ChIP-Seq_LS180_Human	1.46419251
47	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.45660014
48	* NOTCH1_21737748_ChIP-Seq_TLL_Human	1.44866219
49	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.44797297
50	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.43067356
51	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.41942297
52	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.39810624
53	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.37775115
54	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.36467932
55	XRN2_22483619_ChIP-Seq_HELA_Human	1.31532546
56	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.30617406
57	P300_19829295_ChIP-Seq_ESCs_Human	1.28670630
58	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.27379850
59	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.23447354
60	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.20862788
61	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.20539627
62	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20312711
63	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.20202198
64	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.18113617
65	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.14540921
66	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.12884029
67	GBX2_23144817_ChIP-Seq_PC3_Human	1.10932341
68	HTT_18923047_ChIP-ChIP_STHdh_Human	1.10143592
69	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.09716700
70	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.08583287
71	ER_23166858_ChIP-Seq_MCF-7_Human	1.06863801
72	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.06548142
73	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.06018770
74	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.01268735
75	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.00580049
76	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.99262420
77	TP53_22573176_ChIP-Seq_HFKS_Human	0.98667374
78	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.98537962
79	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.97515462
80	CBP_20019798_ChIP-Seq_JUKART_Human	0.96519635
81	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.96519635
82	KDM5A_27292631_Chip-Seq_BREAST_Human	0.96197748
83	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.95445975
84	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.94839767
85	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.93543572
86	* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.93302332
87	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.92819222
88	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.89618874
89	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.89021915
90	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.88492573
91	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.87897526
92	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.86937364
93	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.83534811
94	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.82018514
95	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.82014127
96	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.80836676
97	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.80151798
98	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.79742799
99	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.79652843
100	PHF8_20622853_ChIP-Seq_HELA_Human	0.79300669

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008058_abnormal_DNA_repair	4.17080598
2	MP0008057_abnormal_DNA_replication	3.83773754
3	MP0010094_abnormal_chromosome_stability	3.57598974
4	MP0004957_abnormal_blastocyst_morpholog	2.99846888
5	MP0003693_abnormal_embryo_hatching	2.98902482
6	MP0008877_abnormal_DNA_methylation	2.82851239
7	MP0003786_premature_aging	2.38856965
8	MP0003077_abnormal_cell_cycle	2.35008254
9	MP0003111_abnormal_nucleus_morphology	2.26403392
10	MP0004147_increased_porphyrin_level	2.15434521
11	MP0008007_abnormal_cellular_replicative	2.12307274
12	MP0003718_maternal_effect	2.10808013
13	MP0002102_abnormal_ear_morphology	1.95759700
14	MP0008932_abnormal_embryonic_tissue	1.93705239
15	MP0006072_abnormal_retinal_apoptosis	1.92788766
16	MP0002160_abnormal_reproductive_system	1.85236574
17	MP0009697_abnormal_copulation	1.67093359
18	MP0002163_abnormal_gland_morphology	1.66945605
19	MP0006036_abnormal_mitochondrial_physio	1.65262155
20	MP0005379_endocrine/exocrine_gland_phen	1.63118266
21	MP0002938_white_spotting	1.62991189
22	MP0009046_muscle_twitch	1.61874268
23	MP0003890_abnormal_embryonic-extraembry	1.57404214
24	MP0006035_abnormal_mitochondrial_morpho	1.53708345
25	MP0003787_abnormal_imprinting	1.49931563
26	MP0000427_abnormal_hair_cycle	1.49899385
27	MP0010234_abnormal_vibrissa_follicle	1.49595214
28	MP0010678_abnormal_skin_adnexa	1.44680200
29	MP0001529_abnormal_vocalization	1.42828406
30	MP0000372_irregular_coat_pigmentation	1.42642185
31	MP0003941_abnormal_skin_development	1.37808570
32	MP0003186_abnormal_redox_activity	1.37143561
33	MP0001929_abnormal_gametogenesis	1.36052344
34	MP0002210_abnormal_sex_determination	1.33613555
35	MP0005623_abnormal_meninges_morphology	1.32885602
36	MP0002234_abnormal_pharynx_morphology	1.29232878
37	MP0003937_abnormal_limbs/digits/tail_de	1.28561746
38	MP0003880_abnormal_central_pattern	1.26701833
39	MP0003121_genomic_imprinting	1.25754545
40	MP0000647_abnormal_sebaceous_gland	1.24630629
41	MP0001984_abnormal_olfaction	1.22289405
42	MP0009780_abnormal_chondrocyte_physiolo	1.21481664
43	MP0002837_dystrophic_cardiac_calcinosis	1.21298536
44	MP0003123_paternal_imprinting	1.20408017
45	MP0004215_abnormal_myocardial_fiber	1.19519949
46	MP0000383_abnormal_hair_follicle	1.16877228
47	MP0001293_anophthalmia	1.15847679
48	MP0005253_abnormal_eye_physiology	1.14728887
49	MP0000569_abnormal_digit_pigmentation	1.13995879
50	MP0002736_abnormal_nociception_after	1.11367943
51	MP0003806_abnormal_nucleotide_metabolis	1.10200228
52	MP0003567_abnormal_fetal_cardiomyocyte	1.09871523
53	MP0001968_abnormal_touch/_nociception	1.08388071
54	MP0006292_abnormal_olfactory_placode	1.07159700
55	MP0001145_abnormal_male_reproductive	1.06262701
56	MP0005551_abnormal_eye_electrophysiolog	1.05832769
57	MP0003698_abnormal_male_reproductive	1.05507769
58	MP0000631_abnormal_neuroendocrine_gland	1.05191211
59	MP0000653_abnormal_sex_gland	1.05069601
60	MP0002177_abnormal_outer_ear	1.04100085
61	MP0010352_gastrointestinal_tract_polyps	1.02231783
62	MP0005389_reproductive_system_phenotype	1.01878053
63	MP0001346_abnormal_lacrimal_gland	1.01793599
64	MP0003195_calcinosis	1.00649131
65	MP0002638_abnormal_pupillary_reflex	0.98564148
66	MP0002876_abnormal_thyroid_physiology	0.97498763
67	MP0003950_abnormal_plasma_membrane	0.96622916
68	MP0002272_abnormal_nervous_system	0.92271967
69	MP0001299_abnormal_eye_distance/	0.91941529
70	MP0000350_abnormal_cell_proliferation	0.91810397
71	MP0000358_abnormal_cell_content/	0.90737794
72	MP0001697_abnormal_embryo_size	0.90733122
73	MP0000579_abnormal_nail_morphology	0.89459986
74	MP0004142_abnormal_muscle_tone	0.88518731
75	MP0003755_abnormal_palate_morphology	0.87338256
76	MP0001286_abnormal_eye_development	0.86555004
77	MP0005645_abnormal_hypothalamus_physiol	0.86361511
78	MP0009745_abnormal_behavioral_response	0.83801628
79	MP0002095_abnormal_skin_pigmentation	0.83666198
80	MP0005410_abnormal_fertilization	0.83502487
81	MP0002233_abnormal_nose_morphology	0.82413824
82	MP0008789_abnormal_olfactory_epithelium	0.82159514
83	MP0002084_abnormal_developmental_patter	0.81339091
84	MP0010307_abnormal_tumor_latency	0.79983284
85	MP0004197_abnormal_fetal_growth/weight/	0.79367637
86	MP0002751_abnormal_autonomic_nervous	0.78698952
87	MP0002090_abnormal_vision	0.75652533
88	MP0001730_embryonic_growth_arrest	0.74041291
89	MP0008872_abnormal_physiological_respon	0.72788490
90	MP0001119_abnormal_female_reproductive	0.71978460
91	MP0000762_abnormal_tongue_morphology	0.70385925
92	MP0005408_hypopigmentation	0.69668462
93	MP0001672_abnormal_embryogenesis/_devel	0.69424846
94	MP0005380_embryogenesis_phenotype	0.69424846
95	MP0005332_abnormal_amino_acid	0.68253292
96	MP0003137_abnormal_impulse_conducting	0.67072530
97	MP0005395_other_phenotype	0.66189403
98	MP0002067_abnormal_sensory_capabilities	0.65279241
99	MP0003936_abnormal_reproductive_system	0.64751791
100	MP0002161_abnormal_fertility/fecundity	0.64452292

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	3.54151383
2	Progressive macrocephaly (HP:0004481)	3.25419431
3	Acute encephalopathy (HP:0006846)	3.11714990
4	Abnormal mitochondria in muscle tissue (HP:0008316)	3.11495466
5	Volvulus (HP:0002580)	3.09659413
6	Increased hepatocellular lipid droplets (HP:0006565)	3.07129126
7	Increased CSF lactate (HP:0002490)	2.93420061
8	Abnormality of the pons (HP:0007361)	2.91889847
9	Mitochondrial inheritance (HP:0001427)	2.90827821
10	Hypoplasia of the pons (HP:0012110)	2.81765835
11	Lipid accumulation in hepatocytes (HP:0006561)	2.80737253
12	Colon cancer (HP:0003003)	2.80682359
13	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.75421237
14	Chromsome breakage (HP:0040012)	2.72806167
15	Cerebral edema (HP:0002181)	2.57147827
16	Hepatic necrosis (HP:0002605)	2.55841762
17	Abnormality of the labia minora (HP:0012880)	2.50728926
18	Oligodactyly (hands) (HP:0001180)	2.50604039
19	Hepatocellular necrosis (HP:0001404)	2.40320876
20	Abnormality of midbrain morphology (HP:0002418)	2.36305282
21	Molar tooth sign on MRI (HP:0002419)	2.36305282
22	Type II lissencephaly (HP:0007260)	2.34493594
23	Abnormality of methionine metabolism (HP:0010901)	2.34148539
24	Cerebellar dysplasia (HP:0007033)	2.32329454
25	Medial flaring of the eyebrow (HP:0010747)	2.30230925
26	Increased serum lactate (HP:0002151)	2.26084335
27	Abnormality of chromosome stability (HP:0003220)	2.25735060
28	Renal Fanconi syndrome (HP:0001994)	2.24796139
29	Increased circulating renin level (HP:0000848)	2.23971550
30	Renal cortical cysts (HP:0000803)	2.23444474
31	Abnormality of alanine metabolism (HP:0010916)	2.22413372
32	Hyperalaninemia (HP:0003348)	2.22413372
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.22413372
34	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.21257425
35	Pancreatic cysts (HP:0001737)	2.19650044
36	Meckel diverticulum (HP:0002245)	2.16643743
37	3-Methylglutaconic aciduria (HP:0003535)	2.13850139
38	Abnormality of the ileum (HP:0001549)	2.12804627
39	Methylmalonic acidemia (HP:0002912)	2.12113518
40	Cerebral hypomyelination (HP:0006808)	2.12089814
41	Increased serum pyruvate (HP:0003542)	2.11671497
42	Sensory axonal neuropathy (HP:0003390)	2.10066792
43	Retinal dysplasia (HP:0007973)	2.07995548
44	Abnormal lung lobation (HP:0002101)	2.05935056
45	Leukodystrophy (HP:0002415)	2.05757091
46	Abnormality of the preputium (HP:0100587)	2.05008215
47	Duodenal stenosis (HP:0100867)	2.04243397
48	Small intestinal stenosis (HP:0012848)	2.04243397
49	Pancreatic fibrosis (HP:0100732)	2.01935777
50	Lactic acidosis (HP:0003128)	2.01317951
51	Microvesicular hepatic steatosis (HP:0001414)	1.97236586
52	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.95964414
53	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.95964414
54	Abnormality of glycolysis (HP:0004366)	1.95655152
55	Abnormality of the duodenum (HP:0002246)	1.90521100
56	Oral leukoplakia (HP:0002745)	1.90033382
57	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.90031336
58	Abnormal protein N-linked glycosylation (HP:0012347)	1.90031336
59	Abnormal protein glycosylation (HP:0012346)	1.90031336
60	Abnormal glycosylation (HP:0012345)	1.90031336
61	Type I transferrin isoform profile (HP:0003642)	1.89409265
62	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.88775986
63	True hermaphroditism (HP:0010459)	1.88245477
64	Conjunctival hamartoma (HP:0100780)	1.87837861
65	Aplastic anemia (HP:0001915)	1.84891988
66	Megaloblastic anemia (HP:0001889)	1.83873760
67	Respiratory failure (HP:0002878)	1.82897712
68	Sloping forehead (HP:0000340)	1.80641468
69	Congenital primary aphakia (HP:0007707)	1.79713558
70	Generalized aminoaciduria (HP:0002909)	1.77077602
71	Hypoglycemic coma (HP:0001325)	1.76984985
72	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.76245360
73	Birth length less than 3rd percentile (HP:0003561)	1.75956773
74	Oligodactyly (HP:0012165)	1.75892982
75	Optic disc pallor (HP:0000543)	1.75828967
76	Exercise intolerance (HP:0003546)	1.75234064
77	Absent radius (HP:0003974)	1.75112274
78	Neoplasm of the adrenal gland (HP:0100631)	1.74341703
79	Intestinal atresia (HP:0011100)	1.74298848
80	Gait imbalance (HP:0002141)	1.74043314
81	Duplicated collecting system (HP:0000081)	1.73353356
82	Abnormality of the anterior horn cell (HP:0006802)	1.71268011
83	Degeneration of anterior horn cells (HP:0002398)	1.71268011
84	Abnormality of the renal cortex (HP:0011035)	1.70996180
85	CNS hypomyelination (HP:0003429)	1.70462339
86	Nephronophthisis (HP:0000090)	1.70239839
87	Macrocytic anemia (HP:0001972)	1.70236848
88	Nephrogenic diabetes insipidus (HP:0009806)	1.69921847
89	Erythroderma (HP:0001019)	1.69045619
90	Congenital ichthyosiform erythroderma (HP:0007431)	1.69017290
91	Furrowed tongue (HP:0000221)	1.68043075
92	Stenosis of the external auditory canal (HP:0000402)	1.67699875
93	X-linked dominant inheritance (HP:0001423)	1.67375346
94	Triphalangeal thumb (HP:0001199)	1.66995989
95	Horseshoe kidney (HP:0000085)	1.66985178
96	Methylmalonic aciduria (HP:0012120)	1.66136780
97	Cutaneous melanoma (HP:0012056)	1.65915043
98	CNS demyelination (HP:0007305)	1.64677028
99	Abnormality of serum amino acid levels (HP:0003112)	1.64229468
100	Abnormal number of erythroid precursors (HP:0012131)	1.64066870

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	3.77329092
2	PBK	3.12231637
3	EIF2AK3	3.10664014
4	MST4	2.75734026
5	EIF2AK1	2.69098989
6	SRPK1	2.68316808
7	BMPR1B	2.51067684
8	FRK	2.39669652
9	ZAK	2.37017166
10	NUAK1	2.29653931
11	TSSK6	2.16392924
12	PLK4	2.16290288
13	TRIM28	2.16248950
14	BRSK2	2.10874679
15	NEK1	2.10735559
16	PLK3	2.01064340
17	MKNK2	1.99525866
18	VRK2	1.92175904
19	WEE1	1.90417462
20	TTK	1.84248552
21	STK16	1.74631711
22	MKNK1	1.71419188
23	STK38L	1.66820459
24	CDC7	1.65158312
25	PNCK	1.63957481
26	VRK1	1.61161641
27	WNK3	1.54965576
28	ERBB3	1.50330880
29	PLK2	1.44814387
30	PDK2	1.33083564
31	TNIK	1.27655253
32	PLK1	1.26814158
33	MAP3K4	1.24101263
34	TAF1	1.19671416
35	NME1	1.13972999
36	ACVR1B	1.13468121
37	CCNB1	1.12676404
38	BCR	1.12245250
39	MAP3K12	1.04887501
40	BRSK1	1.01672273
41	EIF2AK2	0.99256541
42	STK24	0.97953428
43	STK39	0.97734355
44	STK3	0.94249721
45	CASK	0.92060775
46	ATR	0.88907741
47	CSNK1G1	0.86860307
48	CSNK1G3	0.79778644
49	MAP2K6	0.78553438
50	ERBB4	0.77156454
51	MAP2K7	0.75918704
52	BMPR2	0.75418098
53	MARK3	0.73206698
54	OXSR1	0.72630168
55	AURKB	0.71860059
56	GRK1	0.71307441
57	LATS1	0.71284581
58	CHEK2	0.71164011
59	ATM	0.70123341
60	CSNK1A1L	0.69978408
61	PRKCG	0.68766401
62	LIMK1	0.68184582
63	CAMKK2	0.68151029
64	WNK4	0.66875691
65	NME2	0.66333214
66	RPS6KA4	0.66062888
67	STK10	0.65187856
68	CSNK1G2	0.62568897
69	TGFBR1	0.62441479
70	MAP4K2	0.61509335
71	CHEK1	0.58685543
72	PASK	0.57200116
73	EPHA4	0.55305883
74	PHKG2	0.50555407
75	PHKG1	0.50555407
76	CDK3	0.49197781
77	RPS6KA5	0.48141690
78	ALK	0.48114078
79	AURKA	0.47577690
80	PRKCE	0.47449647
81	MINK1	0.46841168
82	CSNK2A2	0.46757094
83	ADRBK2	0.45898507
84	PINK1	0.44488216
85	NLK	0.43681893
86	CDK8	0.43600154
87	PRKCI	0.41832746
88	FGFR1	0.41760834
89	DYRK3	0.41750670
90	BRD4	0.41614625
91	SCYL2	0.40007247
92	CLK1	0.39580845
93	CSNK2A1	0.38718392
94	CSNK1E	0.38539985
95	NEK2	0.37678349
96	RAF1	0.37555364
97	MAPKAPK5	0.35341846
98	MAPK13	0.35101168
99	STK4	0.34582293
100	DAPK1	0.34229859

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.95929936
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.18262847
3	Protein export_Homo sapiens_hsa03060	3.09977574
4	Mismatch repair_Homo sapiens_hsa03430	3.02427188
5	DNA replication_Homo sapiens_hsa03030	2.93585828
6	RNA polymerase_Homo sapiens_hsa03020	2.73575449
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.65359798
8	Homologous recombination_Homo sapiens_hsa03440	2.60123575
9	Ribosome_Homo sapiens_hsa03010	2.47221441
10	Non-homologous end-joining_Homo sapiens_hsa03450	2.40726403
11	Nucleotide excision repair_Homo sapiens_hsa03420	2.26751949
12	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.26555504
13	Parkinsons disease_Homo sapiens_hsa05012	2.23687891
14	Basal transcription factors_Homo sapiens_hsa03022	2.21679072
15	RNA transport_Homo sapiens_hsa03013	2.13998138
16	Fanconi anemia pathway_Homo sapiens_hsa03460	2.13009942
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.98916036
18	RNA degradation_Homo sapiens_hsa03018	1.97453747
19	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.84841815
20	Spliceosome_Homo sapiens_hsa03040	1.80272273
21	Base excision repair_Homo sapiens_hsa03410	1.75351023
22	Huntingtons disease_Homo sapiens_hsa05016	1.64238084
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.63359298
24	Propanoate metabolism_Homo sapiens_hsa00640	1.63252970
25	One carbon pool by folate_Homo sapiens_hsa00670	1.61472442
26	Pyrimidine metabolism_Homo sapiens_hsa00240	1.57237517
27	Cell cycle_Homo sapiens_hsa04110	1.53909483
28	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.53022257
29	Alzheimers disease_Homo sapiens_hsa05010	1.43047089
30	Purine metabolism_Homo sapiens_hsa00230	1.34017364
31	Butanoate metabolism_Homo sapiens_hsa00650	1.33592879
32	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.32295321
33	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.29188434
34	Fatty acid elongation_Homo sapiens_hsa00062	1.26200616
35	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.24130586
36	Pyruvate metabolism_Homo sapiens_hsa00620	1.21173528
37	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.18044135
38	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.17770213
39	Steroid biosynthesis_Homo sapiens_hsa00100	1.11943386
40	Selenocompound metabolism_Homo sapiens_hsa00450	1.10554378
41	mRNA surveillance pathway_Homo sapiens_hsa03015	1.02528433
42	Folate biosynthesis_Homo sapiens_hsa00790	1.00031329
43	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.99582627
44	Oocyte meiosis_Homo sapiens_hsa04114	0.97355560
45	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.95455482
46	Sulfur metabolism_Homo sapiens_hsa00920	0.95124622
47	Circadian rhythm_Homo sapiens_hsa04710	0.94198125
48	Nitrogen metabolism_Homo sapiens_hsa00910	0.93968338
49	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.88977688
50	Glutathione metabolism_Homo sapiens_hsa00480	0.87567184
51	Collecting duct acid secretion_Homo sapiens_hsa04966	0.82201762
52	Sulfur relay system_Homo sapiens_hsa04122	0.80566106
53	Peroxisome_Homo sapiens_hsa04146	0.80433545
54	p53 signaling pathway_Homo sapiens_hsa04115	0.79327461
55	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.77378239
56	Phototransduction_Homo sapiens_hsa04744	0.77219355
57	Cardiac muscle contraction_Homo sapiens_hsa04260	0.74736801
58	Regulation of autophagy_Homo sapiens_hsa04140	0.74622024
59	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.73060742
60	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.71918656
61	Metabolic pathways_Homo sapiens_hsa01100	0.69519249
62	Nicotine addiction_Homo sapiens_hsa05033	0.68843105
63	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.65143884
64	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.59325342
65	Fatty acid metabolism_Homo sapiens_hsa01212	0.56250270
66	Carbon metabolism_Homo sapiens_hsa01200	0.52586810
67	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.50760349
68	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.49413926
69	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.47224786
70	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.44837518
71	beta-Alanine metabolism_Homo sapiens_hsa00410	0.44607568
72	Fatty acid degradation_Homo sapiens_hsa00071	0.44246819
73	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.43761664
74	Olfactory transduction_Homo sapiens_hsa04740	0.41644749
75	Arginine and proline metabolism_Homo sapiens_hsa00330	0.41580526
76	Caffeine metabolism_Homo sapiens_hsa00232	0.40653268
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.39809701
78	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.39179006
79	Linoleic acid metabolism_Homo sapiens_hsa00591	0.38998142
80	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.37860655
81	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.37847789
82	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.37694804
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36045954
84	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.33424013
85	Ether lipid metabolism_Homo sapiens_hsa00565	0.31742307
86	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.30586494
87	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.29040334
88	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.28385742
89	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.26795593
90	Alcoholism_Homo sapiens_hsa05034	0.25485738
91	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.25344660
92	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.24885240
93	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.23584089
94	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.23502041
95	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.19069216
96	GABAergic synapse_Homo sapiens_hsa04727	0.18840845
97	Wnt signaling pathway_Homo sapiens_hsa04310	0.18806977
98	Retinol metabolism_Homo sapiens_hsa00830	0.17840718
99	Hippo signaling pathway_Homo sapiens_hsa04390	0.17385507
100	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.17125572

C12ORF29

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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