ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	keratinization (GO:0031424)	4.38023895
2	regulation of centriole replication (GO:0046599)	4.32219022
3	centriole replication (GO:0007099)	4.29812011
4	regulation of meiosis I (GO:0060631)	4.07494424
5	rRNA methylation (GO:0031167)	3.84468581
6	single strand break repair (GO:0000012)	3.79672684
7	chaperone-mediated protein transport (GO:0072321)	3.77809599
8	proteasome assembly (GO:0043248)	3.70325395
9	rRNA modification (GO:0000154)	3.66320046
10	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.60476538
11	regulation of cilium movement (GO:0003352)	3.55019979
12	DNA double-strand break processing (GO:0000729)	3.48221824
13	microtubule depolymerization (GO:0007019)	3.36139326
14	keratinocyte development (GO:0003334)	3.29240358
15	histone exchange (GO:0043486)	3.28775056
16	piRNA metabolic process (GO:0034587)	3.28292311
17	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.26838936
18	chromatin remodeling at centromere (GO:0031055)	3.25957074
19	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.22582387
20	microtubule polymerization or depolymerization (GO:0031109)	3.16600812
21	pseudouridine synthesis (GO:0001522)	3.14105730
22	CENP-A containing nucleosome assembly (GO:0034080)	3.11441212
23	mitotic metaphase plate congression (GO:0007080)	3.09994086
24	acrosome reaction (GO:0007340)	3.06864906
25	regulation of mitochondrial translation (GO:0070129)	3.00730776
26	protein K6-linked ubiquitination (GO:0085020)	2.97748372
27	NADH dehydrogenase complex assembly (GO:0010257)	2.97702731
28	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.97702731
29	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.97702731
30	centriole assembly (GO:0098534)	2.95107368
31	sperm motility (GO:0030317)	2.90379170
32	protein complex biogenesis (GO:0070271)	2.89333315
33	protein prenylation (GO:0018342)	2.87895753
34	prenylation (GO:0097354)	2.87895753
35	metaphase plate congression (GO:0051310)	2.86016513
36	male meiosis (GO:0007140)	2.84963060
37	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.81241123
38	ATP synthesis coupled proton transport (GO:0015986)	2.81241123
39	regulation of centrosome cycle (GO:0046605)	2.80648904
40	mitochondrial respiratory chain complex assembly (GO:0033108)	2.79768962
41	respiratory chain complex IV assembly (GO:0008535)	2.79768577
42	synapsis (GO:0007129)	2.79555907
43	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.78359388
44	fusion of sperm to egg plasma membrane (GO:0007342)	2.77408289
45	establishment of skin barrier (GO:0061436)	2.75004649
46	DNA catabolic process, exonucleolytic (GO:0000738)	2.73811297
47	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.70203923
48	respiratory electron transport chain (GO:0022904)	2.69558394
49	DNA methylation involved in gamete generation (GO:0043046)	2.66217479
50	chromosome organization involved in meiosis (GO:0070192)	2.65720045
51	resolution of meiotic recombination intermediates (GO:0000712)	2.65685098
52	electron transport chain (GO:0022900)	2.64769551
53	male meiosis I (GO:0007141)	2.64242996
54	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.58799235
55	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.57366188
56	protein localization to kinetochore (GO:0034501)	2.56983929
57	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.55070890
58	regulation of centrosome duplication (GO:0010824)	2.52877159
59	negative regulation of ligase activity (GO:0051352)	2.52355571
60	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.52355571
61	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.50743346
62	protein polyglutamylation (GO:0018095)	2.50507781
63	nonmotile primary cilium assembly (GO:0035058)	2.49799963
64	protein targeting to mitochondrion (GO:0006626)	2.48956303
65	kinetochore assembly (GO:0051382)	2.48861927
66	ribosomal large subunit biogenesis (GO:0042273)	2.48812109
67	kinetochore organization (GO:0051383)	2.48178632
68	musculoskeletal movement (GO:0050881)	2.46527467
69	multicellular organismal movement (GO:0050879)	2.46527467
70	meiosis I (GO:0007127)	2.46327219
71	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.44051749
72	photoreceptor cell maintenance (GO:0045494)	2.43039203
73	positive regulation of meiotic cell cycle (GO:0051446)	2.42711086
74	spindle checkpoint (GO:0031577)	2.40632904
75	mitotic sister chromatid segregation (GO:0000070)	2.40309000
76	regulation of gene silencing by miRNA (GO:0060964)	2.40087596
77	regulation of gene silencing by RNA (GO:0060966)	2.40087596
78	regulation of posttranscriptional gene silencing (GO:0060147)	2.40087596
79	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.38707746
80	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.38707746
81	recombinational repair (GO:0000725)	2.37242974
82	double-strand break repair via homologous recombination (GO:0000724)	2.36885574
83	positive regulation of DNA repair (GO:0045739)	2.35437925
84	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.34305180
85	negative regulation of sister chromatid segregation (GO:0033046)	2.34305180
86	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.34305180
87	negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)	2.34305180
88	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.34305180
89	sister chromatid segregation (GO:0000819)	2.33211001
90	water-soluble vitamin biosynthetic process (GO:0042364)	2.33197036
91	regulation of double-strand break repair via homologous recombination (GO:0010569)	2.32799704
92	DNA replication checkpoint (GO:0000076)	2.32445853
93	mitochondrial RNA metabolic process (GO:0000959)	2.32066977
94	mitotic spindle checkpoint (GO:0071174)	2.32045469
95	regulation of chromosome segregation (GO:0051983)	2.31828693
96	seminiferous tubule development (GO:0072520)	2.30945114
97	negative regulation of meiosis (GO:0045835)	2.30504897
98	cytochrome complex assembly (GO:0017004)	2.29393790
99	protein localization to mitochondrion (GO:0070585)	2.28552518
100	regulation of cellular amino acid metabolic process (GO:0006521)	2.28011339

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.40488334
2	VDR_22108803_ChIP-Seq_LS180_Human	3.03324634
3	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.94187592
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.81129011
5	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.72971531
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.51310226
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.43661317
8	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.43638023
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.35030837
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.34375907
11	FUS_26573619_Chip-Seq_HEK293_Human	2.34326338
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.31803137
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.16085248
14	IGF1R_20145208_ChIP-Seq_DFB_Human	2.12657472
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.07300454
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.01362992
17	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.89211964
18	* P300_19829295_ChIP-Seq_ESCs_Human	1.88399880
19	EWS_26573619_Chip-Seq_HEK293_Human	1.87411124
20	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.85387603
21	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.81867165
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.80201717
23	ELK1_19687146_ChIP-ChIP_HELA_Human	1.78876865
24	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.78212828
25	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.76792612
26	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.66137505
27	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.63734331
28	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.57669865
29	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.57257755
30	CBP_20019798_ChIP-Seq_JUKART_Human	1.57257755
31	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.54311228
32	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.52567561
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50262589
34	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.49222991
35	ER_23166858_ChIP-Seq_MCF-7_Human	1.48607413
36	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48077797
37	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.45225600
38	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.41195461
39	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.41051067
40	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.40159822
41	AR_25329375_ChIP-Seq_VCAP_Human	1.39900841
42	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.38840058
43	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.37015403
44	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.36279132
45	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.34898906
46	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.34120074
47	* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.33245003
48	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.27488796
49	SMAD4_21799915_ChIP-Seq_A2780_Human	1.26956704
50	BCAT_22108803_ChIP-Seq_LS180_Human	1.26149602
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.24377275
52	HTT_18923047_ChIP-ChIP_STHdh_Human	1.23375879
53	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.22258608
54	E2F7_22180533_ChIP-Seq_HELA_Human	1.21234519
55	STAT3_23295773_ChIP-Seq_U87_Human	1.21146356
56	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.20838890
57	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.19986190
58	SOX2_19829295_ChIP-Seq_ESCs_Human	1.18776394
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.18776394
60	VDR_23849224_ChIP-Seq_CD4+_Human	1.18052246
61	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.17753284
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.17571325
63	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.13474230
64	RUNX2_22187159_ChIP-Seq_PCA_Human	1.13189602
65	TCF4_22108803_ChIP-Seq_LS180_Human	1.12787041
66	TP53_22573176_ChIP-Seq_HFKS_Human	1.11292045
67	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.09463521
68	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.08763957
69	ERG_20517297_ChIP-Seq_VCAP_Human	1.07876576
70	AR_21909140_ChIP-Seq_LNCAP_Human	1.07666061
71	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.07152273
72	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.07090067
73	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.07090067
74	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.07090067
75	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.05668232
76	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05668232
77	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.05134678
78	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04716309
79	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03987822
80	TCF4_23295773_ChIP-Seq_U87_Human	1.03955962
81	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.03214834
82	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.03007828
83	* AR_20517297_ChIP-Seq_VCAP_Human	1.01719466
84	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.01438249
85	IRF1_19129219_ChIP-ChIP_H3396_Human	1.01200768
86	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.00886273
87	FOXP3_21729870_ChIP-Seq_TREG_Human	1.00571703
88	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.00362268
89	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.00362268
90	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.99856625
91	DCP1A_22483619_ChIP-Seq_HELA_Human	0.99835254
92	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.99156400
93	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.98812971
94	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.97664209
95	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.97560329
96	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.94414909
97	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.93915817
98	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.92702302
99	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.90684531
100	NCOR_22424771_ChIP-Seq_293T_Human	0.90060762

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	4.14149618
2	MP0002102_abnormal_ear_morphology	2.85501442
3	MP0003941_abnormal_skin_development	2.78239113
4	MP0002796_impaired_skin_barrier	2.59673651
5	MP0008058_abnormal_DNA_repair	2.52651442
6	MP0004957_abnormal_blastocyst_morpholog	2.43536806
7	MP0003718_maternal_effect	2.42776131
8	MP0008057_abnormal_DNA_replication	2.39748846
9	MP0005410_abnormal_fertilization	2.33845303
10	MP0003693_abnormal_embryo_hatching	2.22008594
11	MP0009046_muscle_twitch	2.20902524
12	MP0005377_hearing/vestibular/ear_phenot	2.16429140
13	MP0003878_abnormal_ear_physiology	2.16429140
14	MP0008877_abnormal_DNA_methylation	2.14857184
15	MP0009697_abnormal_copulation	2.00603490
16	MP0006035_abnormal_mitochondrial_morpho	1.91509846
17	MP0005670_abnormal_white_adipose	1.78699782
18	MP0005174_abnormal_tail_pigmentation	1.73862202
19	MP0001984_abnormal_olfaction	1.72175326
20	MP0010386_abnormal_urinary_bladder	1.71347358
21	MP0010094_abnormal_chromosome_stability	1.64518903
22	MP0005551_abnormal_eye_electrophysiolog	1.64107758
23	MP0003698_abnormal_male_reproductive	1.63311662
24	MP0002090_abnormal_vision	1.62412648
25	MP0003890_abnormal_embryonic-extraembry	1.57643922
26	MP0001929_abnormal_gametogenesis	1.55299922
27	MP0003077_abnormal_cell_cycle	1.53124790
28	MP0005501_abnormal_skin_physiology	1.52240548
29	MP0006072_abnormal_retinal_apoptosis	1.43707369
30	MP0002938_white_spotting	1.41984131
31	MP0003950_abnormal_plasma_membrane	1.40946923
32	MP0002210_abnormal_sex_determination	1.38188181
33	MP0002736_abnormal_nociception_after	1.38075888
34	MP0002837_dystrophic_cardiac_calcinosis	1.37181676
35	MP0001485_abnormal_pinna_reflex	1.34571713
36	MP0001968_abnormal_touch/_nociception	1.33599981
37	MP0002254_reproductive_system_inflammat	1.33457899
38	MP0000647_abnormal_sebaceous_gland	1.33423036
39	MP0003786_premature_aging	1.32098505
40	MP0001188_hyperpigmentation	1.31330235
41	MP0005253_abnormal_eye_physiology	1.23918936
42	MP0006292_abnormal_olfactory_placode	1.19383083
43	MP0002272_abnormal_nervous_system	1.18706995
44	MP0000653_abnormal_sex_gland	1.17272859
45	MP0008932_abnormal_embryonic_tissue	1.16374720
46	MP0000358_abnormal_cell_content/	1.14800413
47	MP0001145_abnormal_male_reproductive	1.14115031
48	MP0008875_abnormal_xenobiotic_pharmacok	1.11346844
49	MP0005085_abnormal_gallbladder_physiolo	1.10263915
50	MP0000579_abnormal_nail_morphology	1.10212878
51	MP0003806_abnormal_nucleotide_metabolis	1.09495774
52	MP0003111_abnormal_nucleus_morphology	1.08736089
53	MP0005408_hypopigmentation	1.08583749
54	MP0003880_abnormal_central_pattern	1.07736723
55	MP0008789_abnormal_olfactory_epithelium	1.07346835
56	MP0000631_abnormal_neuroendocrine_gland	1.05086762
57	MP0003136_yellow_coat_color	1.04812705
58	MP0000383_abnormal_hair_follicle	1.04616680
59	MP0010234_abnormal_vibrissa_follicle	1.02651521
60	MP0004133_heterotaxia	1.02592246
61	MP0001764_abnormal_homeostasis	1.02436725
62	MP0003567_abnormal_fetal_cardiomyocyte	1.02073873
63	MP0010678_abnormal_skin_adnexa	1.01731804
64	MP0003119_abnormal_digestive_system	1.01586765
65	MP0000015_abnormal_ear_pigmentation	1.00509748
66	MP0002095_abnormal_skin_pigmentation	0.99545885
67	MP0002160_abnormal_reproductive_system	0.97957912
68	MP0002653_abnormal_ependyma_morphology	0.97131198
69	MP0003195_calcinosis	0.96082703
70	MP0006036_abnormal_mitochondrial_physio	0.95778707
71	MP0003011_delayed_dark_adaptation	0.95275469
72	MP0000427_abnormal_hair_cycle	0.94554556
73	MP0003937_abnormal_limbs/digits/tail_de	0.93820746
74	MP0002161_abnormal_fertility/fecundity	0.93018551
75	MP0003186_abnormal_redox_activity	0.91835417
76	MP0002234_abnormal_pharynx_morphology	0.90308856
77	MP0001486_abnormal_startle_reflex	0.90294922
78	MP0005275_abnormal_skin_tensile	0.88670489
79	MP0001293_anophthalmia	0.86892105
80	MP0008872_abnormal_physiological_respon	0.85720083
81	MP0005171_absent_coat_pigmentation	0.85665243
82	MP0004019_abnormal_vitamin_homeostasis	0.83459503
83	MP0005395_other_phenotype	0.81533909
84	MP0009745_abnormal_behavioral_response	0.80395702
85	MP0003137_abnormal_impulse_conducting	0.80280731
86	MP0010771_integument_phenotype	0.79838394
87	MP0003283_abnormal_digestive_organ	0.78752747
88	MP0002822_catalepsy	0.77765330
89	MP0006276_abnormal_autonomic_nervous	0.75873547
90	MP0002184_abnormal_innervation	0.74584656
91	MP0005647_abnormal_sex_gland	0.74336372
92	MP0001529_abnormal_vocalization	0.74085198
93	MP0006054_spinal_hemorrhage	0.73642685
94	MP0002229_neurodegeneration	0.73568526
95	MP0002697_abnormal_eye_size	0.71755305
96	MP0001119_abnormal_female_reproductive	0.70946363
97	MP0004215_abnormal_myocardial_fiber	0.70900332
98	MP0001324_abnormal_eye_pigmentation	0.70770353
99	MP0000372_irregular_coat_pigmentation	0.70339821
100	MP0005389_reproductive_system_phenotype	0.69532038

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.49275507
2	Pancreatic cysts (HP:0001737)	3.13749181
3	Congenital ichthyosiform erythroderma (HP:0007431)	3.06962689
4	Acute necrotizing encephalopathy (HP:0006965)	2.92022060
5	Medial flaring of the eyebrow (HP:0010747)	2.84951606
6	Pancreatic fibrosis (HP:0100732)	2.80038870
7	True hermaphroditism (HP:0010459)	2.71009391
8	Nephronophthisis (HP:0000090)	2.58989407
9	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.58093088
10	Congenital primary aphakia (HP:0007707)	2.54695121
11	Increased CSF lactate (HP:0002490)	2.53315497
12	Acute encephalopathy (HP:0006846)	2.49724624
13	Gaze-evoked nystagmus (HP:0000640)	2.47415083
14	Chromsome breakage (HP:0040012)	2.46863818
15	Progressive macrocephaly (HP:0004481)	2.42784317
16	Molar tooth sign on MRI (HP:0002419)	2.41010234
17	Abnormality of midbrain morphology (HP:0002418)	2.41010234
18	Gait imbalance (HP:0002141)	2.40442285
19	Mitochondrial inheritance (HP:0001427)	2.37383579
20	Abnormal mitochondria in muscle tissue (HP:0008316)	2.36494453
21	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.34539731
22	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.34539731
23	Progressive cerebellar ataxia (HP:0002073)	2.34084453
24	Nephrogenic diabetes insipidus (HP:0009806)	2.34010104
25	Furrowed tongue (HP:0000221)	2.32677123
26	Volvulus (HP:0002580)	2.27908928
27	Increased hepatocellular lipid droplets (HP:0006565)	2.26436847
28	Genital tract atresia (HP:0001827)	2.25858828
29	Parakeratosis (HP:0001036)	2.23936800
30	Oral leukoplakia (HP:0002745)	2.23932126
31	Vaginal atresia (HP:0000148)	2.23894787
32	Abnormal ciliary motility (HP:0012262)	2.22837921
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.17863431
34	Abnormality of alanine metabolism (HP:0010916)	2.17863431
35	Hyperalaninemia (HP:0003348)	2.17863431
36	Erythroderma (HP:0001019)	2.17670879
37	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.15560412
38	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.14651912
39	Absent/shortened dynein arms (HP:0200106)	2.14651912
40	Horizontal nystagmus (HP:0000666)	2.14269335
41	Abnormal respiratory motile cilium physiology (HP:0012261)	2.13667020
42	Abnormal lung lobation (HP:0002101)	2.11245331
43	Cerebral edema (HP:0002181)	2.11152730
44	Small intestinal stenosis (HP:0012848)	2.10849232
45	Duodenal stenosis (HP:0100867)	2.10849232
46	Meckel diverticulum (HP:0002245)	2.10666220
47	Lipid accumulation in hepatocytes (HP:0006561)	2.09251292
48	Palmar hyperkeratosis (HP:0010765)	2.09061974
49	Chronic bronchitis (HP:0004469)	2.05465319
50	Abnormality of the renal medulla (HP:0100957)	2.04384450
51	Abnormality of the ileum (HP:0001549)	2.04188034
52	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.02562538
53	Abnormality of the preputium (HP:0100587)	2.01355251
54	Abnormality of nail color (HP:0100643)	2.00117537
55	Abnormality of serum amino acid levels (HP:0003112)	1.97802163
56	Abnormality of the duodenum (HP:0002246)	1.96759146
57	Atonic seizures (HP:0010819)	1.95475101
58	Amelogenesis imperfecta (HP:0000705)	1.94329092
59	Bilateral microphthalmos (HP:0007633)	1.92860904
60	Male pseudohermaphroditism (HP:0000037)	1.91779939
61	Abnormal respiratory motile cilium morphology (HP:0005938)	1.90732343
62	Abnormal respiratory epithelium morphology (HP:0012253)	1.90732343
63	Methylmalonic acidemia (HP:0002912)	1.90331909
64	Febrile seizures (HP:0002373)	1.89215504
65	Poor coordination (HP:0002370)	1.89109631
66	Abnormality of chromosome stability (HP:0003220)	1.88103308
67	Abnormality of the labia minora (HP:0012880)	1.88051539
68	Palmoplantar hyperkeratosis (HP:0000972)	1.88043848
69	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.87971128
70	Pendular nystagmus (HP:0012043)	1.87368880
71	Attenuation of retinal blood vessels (HP:0007843)	1.87140246
72	Chronic hepatic failure (HP:0100626)	1.86085358
73	Abnormality of the corticospinal tract (HP:0002492)	1.82925773
74	Reticulocytopenia (HP:0001896)	1.82486036
75	Hypoplasia of the pons (HP:0012110)	1.82030362
76	Glycosuria (HP:0003076)	1.80692903
77	Abnormality of urine glucose concentration (HP:0011016)	1.80692903
78	Absent hair (HP:0002298)	1.80043790
79	Hypoplastic pelvis (HP:0008839)	1.78429650
80	Aplasia/hypoplasia of the uterus (HP:0008684)	1.78413308
81	Renal Fanconi syndrome (HP:0001994)	1.78356630
82	Median cleft lip (HP:0000161)	1.78294166
83	Potter facies (HP:0002009)	1.75820795
84	Facial shape deformation (HP:0011334)	1.75820795
85	Absent radius (HP:0003974)	1.75555262
86	Cystic liver disease (HP:0006706)	1.74601137
87	Hypoplasia of the uterus (HP:0000013)	1.74181809
88	Methylmalonic aciduria (HP:0012120)	1.73838893
89	Congenital, generalized hypertrichosis (HP:0004540)	1.73561788
90	Sloping forehead (HP:0000340)	1.72555178
91	Increased serum lactate (HP:0002151)	1.72269066
92	Bony spicule pigmentary retinopathy (HP:0007737)	1.72264769
93	Abnormality of methionine metabolism (HP:0010901)	1.71528415
94	Constricted visual fields (HP:0001133)	1.71435204
95	Abnormality of renal resorption (HP:0011038)	1.70247055
96	Impaired vibration sensation in the lower limbs (HP:0002166)	1.70216856
97	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.70052613
98	Hepatocellular necrosis (HP:0001404)	1.69884767
99	Dialeptic seizures (HP:0011146)	1.69680889
100	Anencephaly (HP:0002323)	1.69516518

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	3.97211574
2	BUB1	3.59227136
3	ZAK	3.39701313
4	FRK	3.36645075
5	MST4	2.94604176
6	PBK	2.76691618
7	NEK1	2.52432378
8	INSRR	2.33160889
9	LATS1	2.32036114
10	TTK	2.24680236
11	EIF2AK1	2.19645793
12	PLK2	2.03996599
13	STK38L	2.03377932
14	PNCK	1.92148667
15	ACVR1B	1.91565389
16	EIF2AK3	1.86832726
17	MAP3K4	1.83198081
18	GRK1	1.78499792
19	BRSK2	1.76860929
20	NME1	1.68288214
21	PLK3	1.60482782
22	STK16	1.59649368
23	BMPR1B	1.58620392
24	WNK3	1.57392362
25	SRPK1	1.51855827
26	NUAK1	1.41525315
27	PDK2	1.36177825
28	VRK1	1.36157119
29	PLK1	1.32305119
30	CDC7	1.28117391
31	MKNK2	1.25063209
32	STK3	1.24234108
33	MAP2K7	1.16718498
34	MAP4K2	1.15873021
35	PASK	1.15268298
36	NEK2	1.13711796
37	CASK	1.13118280
38	VRK2	1.12007857
39	TRIM28	1.05584465
40	AKT3	1.04611469
41	MAP3K9	1.01128165
42	PIK3CG	0.98059846
43	OXSR1	0.97646930
44	CAMK1G	0.96821534
45	BRSK1	0.93606461
46	EPHA2	0.89811750
47	ADRBK2	0.84522675
48	MKNK1	0.82570605
49	RPS6KB2	0.80853456
50	EPHA4	0.80574075
51	TNIK	0.73231306
52	WEE1	0.73053663
53	CHEK2	0.68849318
54	CDK19	0.68047678
55	BCR	0.67574472
56	PRKCE	0.67458461
57	STK39	0.66865095
58	DYRK3	0.64336953
59	FER	0.63479161
60	AURKB	0.63148611
61	STK24	0.61741240
62	DAPK2	0.61432162
63	PHKG2	0.58499448
64	PHKG1	0.58499448
65	TAF1	0.58302652
66	WNK4	0.58262135
67	PAK4	0.57582384
68	TGFBR1	0.56720952
69	PRKCG	0.56255485
70	BRAF	0.55383679
71	NTRK3	0.54570845
72	ATR	0.51213022
73	ATM	0.50420038
74	PTK2B	0.48842384
75	MAP3K12	0.48513257
76	AURKA	0.46002604
77	TSSK6	0.45470503
78	MET	0.42847390
79	FGFR2	0.42682090
80	CSNK1G2	0.42468983
81	CSNK1G1	0.42453751
82	PAK3	0.41750432
83	CSNK1A1L	0.40584471
84	WNK1	0.40252531
85	PRKG1	0.40009645
86	CSNK1A1	0.39868600
87	ADRBK1	0.38551061
88	CSNK1G3	0.38170576
89	PINK1	0.37256311
90	CHEK1	0.36882958
91	CSNK1E	0.35349123
92	GRK5	0.34731508
93	CAMK2A	0.34723925
94	IRAK2	0.34045898
95	PRKCI	0.33986071
96	CDK1	0.32558407
97	STK4	0.32450514
98	PKN1	0.31722939
99	MAP3K8	0.31654301
100	ERBB4	0.31108772

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.47517008
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.05574094
3	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.66875041
4	Parkinsons disease_Homo sapiens_hsa05012	2.45133833
5	Homologous recombination_Homo sapiens_hsa03440	2.33981260
6	Mismatch repair_Homo sapiens_hsa03430	2.21166047
7	Basal transcription factors_Homo sapiens_hsa03022	2.16704861
8	Ribosome_Homo sapiens_hsa03010	2.15434187
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.09139054
10	Huntingtons disease_Homo sapiens_hsa05016	2.04883842
11	Propanoate metabolism_Homo sapiens_hsa00640	1.81751912
12	RNA polymerase_Homo sapiens_hsa03020	1.77199365
13	Non-homologous end-joining_Homo sapiens_hsa03450	1.71152835
14	Nitrogen metabolism_Homo sapiens_hsa00910	1.70172033
15	Phototransduction_Homo sapiens_hsa04744	1.68830259
16	Nucleotide excision repair_Homo sapiens_hsa03420	1.67398377
17	Alzheimers disease_Homo sapiens_hsa05010	1.60733996
18	RNA transport_Homo sapiens_hsa03013	1.59713143
19	DNA replication_Homo sapiens_hsa03030	1.57287046
20	Nicotine addiction_Homo sapiens_hsa05033	1.55683974
21	Protein export_Homo sapiens_hsa03060	1.53374302
22	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.48850560
23	Fatty acid elongation_Homo sapiens_hsa00062	1.47090435
24	Base excision repair_Homo sapiens_hsa03410	1.42586068
25	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.37818427
26	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.35493599
27	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.32950150
28	Linoleic acid metabolism_Homo sapiens_hsa00591	1.31301115
29	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.30164739
30	Regulation of autophagy_Homo sapiens_hsa04140	1.29970588
31	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.29383757
32	Cardiac muscle contraction_Homo sapiens_hsa04260	1.25764505
33	RNA degradation_Homo sapiens_hsa03018	1.21713688
34	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.15804593
35	Collecting duct acid secretion_Homo sapiens_hsa04966	1.13549049
36	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.11751856
37	Taste transduction_Homo sapiens_hsa04742	1.10667440
38	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.06251236
39	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.05784144
40	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.05708342
41	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.04161799
42	Butanoate metabolism_Homo sapiens_hsa00650	1.03036635
43	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.01509446
44	Cell cycle_Homo sapiens_hsa04110	1.01088739
45	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.99402573
46	beta-Alanine metabolism_Homo sapiens_hsa00410	0.97054943
47	Retinol metabolism_Homo sapiens_hsa00830	0.96922256
48	Oocyte meiosis_Homo sapiens_hsa04114	0.96869245
49	Selenocompound metabolism_Homo sapiens_hsa00450	0.96235589
50	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.95226044
51	Tryptophan metabolism_Homo sapiens_hsa00380	0.95163134
52	Folate biosynthesis_Homo sapiens_hsa00790	0.93820643
53	Pyrimidine metabolism_Homo sapiens_hsa00240	0.92840802
54	Serotonergic synapse_Homo sapiens_hsa04726	0.91700065
55	Long-term depression_Homo sapiens_hsa04730	0.89238323
56	Fatty acid degradation_Homo sapiens_hsa00071	0.89186596
57	Fatty acid metabolism_Homo sapiens_hsa01212	0.87672939
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87175376
59	Chemical carcinogenesis_Homo sapiens_hsa05204	0.84035302
60	Pyruvate metabolism_Homo sapiens_hsa00620	0.83814536
61	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.83522257
62	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.83461566
63	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.83420501
64	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.80583878
65	Purine metabolism_Homo sapiens_hsa00230	0.80413428
66	Renin-angiotensin system_Homo sapiens_hsa04614	0.79929547
67	Ether lipid metabolism_Homo sapiens_hsa00565	0.77957783
68	Metabolic pathways_Homo sapiens_hsa01100	0.77693472
69	Spliceosome_Homo sapiens_hsa03040	0.77357987
70	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.76735936
71	Peroxisome_Homo sapiens_hsa04146	0.75647115
72	Glutathione metabolism_Homo sapiens_hsa00480	0.74667662
73	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.74574357
74	Olfactory transduction_Homo sapiens_hsa04740	0.73371456
75	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.72334053
76	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.71500397
77	One carbon pool by folate_Homo sapiens_hsa00670	0.70720306
78	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.70395981
79	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.70042308
80	Steroid biosynthesis_Homo sapiens_hsa00100	0.65802676
81	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.65570658
82	Morphine addiction_Homo sapiens_hsa05032	0.65201254
83	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.57675641
84	ABC transporters_Homo sapiens_hsa02010	0.56546675
85	Glutamatergic synapse_Homo sapiens_hsa04724	0.56113943
86	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.53960472
87	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.53717250
88	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.53071268
89	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.51915782
90	GABAergic synapse_Homo sapiens_hsa04727	0.50734114
91	Sulfur relay system_Homo sapiens_hsa04122	0.50275383
92	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.47206859
93	Circadian rhythm_Homo sapiens_hsa04710	0.47042920
94	Caffeine metabolism_Homo sapiens_hsa00232	0.46420383
95	Lysine degradation_Homo sapiens_hsa00310	0.44647557
96	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.43014874
97	Mineral absorption_Homo sapiens_hsa04978	0.42798663
98	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.41746825
99	Circadian entrainment_Homo sapiens_hsa04713	0.41607474
100	Carbon metabolism_Homo sapiens_hsa01200	0.41318326

C12ORF56

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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