ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	6.23022757
2	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	6.23022757
3	folic acid-containing compound biosynthetic process (GO:0009396)	5.70388117
4	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.45353278
5	NADH dehydrogenase complex assembly (GO:0010257)	5.45353278
6	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.45353278
7	pseudouridine synthesis (GO:0001522)	5.16849671
8	protein complex biogenesis (GO:0070271)	4.85414583
9	mitochondrial respiratory chain complex assembly (GO:0033108)	4.68790294
10	pteridine-containing compound biosynthetic process (GO:0042559)	4.66577924
11	tachykinin receptor signaling pathway (GO:0007217)	4.48180168
12	microtubule nucleation (GO:0007020)	4.40547027
13	mitochondrial RNA metabolic process (GO:0000959)	4.37227161
14	respiratory chain complex IV assembly (GO:0008535)	4.24530441
15	transcription from mitochondrial promoter (GO:0006390)	4.05330068
16	replication fork processing (GO:0031297)	3.92922418
17	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.82726394
18	kinetochore assembly (GO:0051382)	3.81205363
19	rRNA methylation (GO:0031167)	3.77541360
20	kinetochore organization (GO:0051383)	3.73817949
21	tetrahydrofolate metabolic process (GO:0046653)	3.67476428
22	neurofilament cytoskeleton organization (GO:0060052)	3.62287992
23	maturation of SSU-rRNA (GO:0030490)	3.59958597
24	chromatin remodeling at centromere (GO:0031055)	3.59021335
25	maturation of 5.8S rRNA (GO:0000460)	3.57221034
26	tRNA processing (GO:0008033)	3.56285263
27	CENP-A containing nucleosome assembly (GO:0034080)	3.55292783
28	cytochrome complex assembly (GO:0017004)	3.51159264
29	positive regulation of B cell differentiation (GO:0045579)	3.49639356
30	DNA deamination (GO:0045006)	3.48035259
31	regulation of DNA endoreduplication (GO:0032875)	3.44911106
32	rRNA modification (GO:0000154)	3.42172738
33	positive regulation of action potential (GO:0045760)	3.40137649
34	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.38998417
35	RNA destabilization (GO:0050779)	3.34247434
36	tRNA modification (GO:0006400)	3.33328011
37	rRNA processing (GO:0006364)	3.32458291
38	chaperone-mediated protein transport (GO:0072321)	3.32256167
39	transcription elongation from RNA polymerase I promoter (GO:0006362)	3.28883468
40	prenylation (GO:0097354)	3.28151526
41	protein prenylation (GO:0018342)	3.28151526
42	inner mitochondrial membrane organization (GO:0007007)	3.22274007
43	rRNA metabolic process (GO:0016072)	3.21410178
44	histone exchange (GO:0043486)	3.15012995
45	homocysteine metabolic process (GO:0050667)	3.12808010
46	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.12769243
47	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.12482109
48	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.11849716
49	ncRNA processing (GO:0034470)	3.10130552
50	RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	3.08522143
51	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.04324784
52	cellular component biogenesis (GO:0044085)	3.04251168
53	tRNA metabolic process (GO:0006399)	3.01051085
54	ribosome biogenesis (GO:0042254)	2.98070815
55	protein-cofactor linkage (GO:0018065)	2.97858910
56	DNA replication-independent nucleosome assembly (GO:0006336)	2.96512442
57	DNA replication-independent nucleosome organization (GO:0034724)	2.96512442
58	peptidyl-histidine modification (GO:0018202)	2.95766327
59	centriole replication (GO:0007099)	2.95047826
60	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	2.94873218
61	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	2.94873218
62	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.93952901
63	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	2.91537035
64	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	2.91537035
65	regulation of sequestering of triglyceride (GO:0010889)	2.90187041
66	mitotic sister chromatid cohesion (GO:0007064)	2.90119444
67	positive regulation of steroid hormone secretion (GO:2000833)	2.89890144
68	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.89736837
69	rRNA catabolic process (GO:0016075)	2.88720332
70	pyrimidine nucleotide catabolic process (GO:0006244)	2.85217163
71	protein K6-linked ubiquitination (GO:0085020)	2.81971566
72	DNA double-strand break processing (GO:0000729)	2.81863926
73	tRNA methylation (GO:0030488)	2.81524824
74	RNA modification (GO:0009451)	2.80584894
75	folic acid-containing compound metabolic process (GO:0006760)	2.79634127
76	mitotic cell cycle arrest (GO:0071850)	2.78780979
77	mitochondrion morphogenesis (GO:0070584)	2.77847249
78	RNA phosphodiester bond hydrolysis (GO:0090501)	2.77296886
79	nuclear pore complex assembly (GO:0051292)	2.77205525
80	alternative mRNA splicing, via spliceosome (GO:0000380)	2.76869269
81	regulation of action potential (GO:0098900)	2.74909364
82	termination of RNA polymerase I transcription (GO:0006363)	2.74775181
83	DNA replication checkpoint (GO:0000076)	2.74548410
84	pteridine-containing compound metabolic process (GO:0042558)	2.72539749
85	ncRNA metabolic process (GO:0034660)	2.68555009
86	adenosine metabolic process (GO:0046085)	2.67709125
87	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.67301530
88	regulation of meiosis I (GO:0060631)	2.66068124
89	protein targeting to mitochondrion (GO:0006626)	2.65441807
90	somite rostral/caudal axis specification (GO:0032525)	2.63568942
91	positive regulation of mRNA catabolic process (GO:0061014)	2.62584363
92	sulfur amino acid biosynthetic process (GO:0000097)	2.61868738
93	regulation of centriole replication (GO:0046599)	2.61545439
94	DNA catabolic process, exonucleolytic (GO:0000738)	2.60383033
95	GTP biosynthetic process (GO:0006183)	2.60181986
96	termination of RNA polymerase III transcription (GO:0006386)	2.59547204
97	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.59547204
98	ribonucleoprotein complex biogenesis (GO:0022613)	2.59337127
99	telomere maintenance via telomerase (GO:0007004)	2.59106479
100	sister chromatid cohesion (GO:0007062)	2.58549832

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.54586476
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.41722856
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.16492218
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.87294722
5	E2F7_22180533_ChIP-Seq_HELA_Human	3.64319643
6	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.34927456
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.10283225
8	ELK1_19687146_ChIP-ChIP_HELA_Human	3.08833830
9	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.06483290
10	VDR_23849224_ChIP-Seq_CD4+_Human	2.77812389
11	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.75945609
12	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.66649274
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.62656334
14	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.57809223
15	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.55965049
16	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.40062690
17	PADI4_21655091_ChIP-ChIP_MCF-7_Human	2.39345658
18	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.34573020
19	FOXP3_21729870_ChIP-Seq_TREG_Human	2.33383829
20	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.12928474
21	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.12922014
22	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.11363303
23	E2F1_21310950_ChIP-Seq_MCF-7_Human	2.05142246
24	MYC_18940864_ChIP-ChIP_HL60_Human	2.01739090
25	VDR_22108803_ChIP-Seq_LS180_Human	2.00204749
26	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.97270089
27	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.92024065
28	GBX2_23144817_ChIP-Seq_PC3_Human	1.88718478
29	FUS_26573619_Chip-Seq_HEK293_Human	1.88101773
30	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.83217520
31	GABP_19822575_ChIP-Seq_HepG2_Human	1.82992573
32	DCP1A_22483619_ChIP-Seq_HELA_Human	1.81639906
33	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.77780259
34	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.74089365
35	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.73176960
36	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.73103307
37	EWS_26573619_Chip-Seq_HEK293_Human	1.68561275
38	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.67645382
39	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.65894970
40	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.64925399
41	TTF2_22483619_ChIP-Seq_HELA_Human	1.60729216
42	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.59202209
43	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.58430494
44	AR_21909140_ChIP-Seq_LNCAP_Human	1.55501375
45	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.52928341
46	XRN2_22483619_ChIP-Seq_HELA_Human	1.49103184
47	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.45088787
48	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.42293850
49	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.37478371
50	ZNF274_21170338_ChIP-Seq_K562_Hela	1.35636069
51	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.33793162
52	KDM5A_27292631_Chip-Seq_BREAST_Human	1.33408467
53	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.33235841
54	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.32524945
55	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.29999505
56	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.29126198
57	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.26396539
58	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.26064802
59	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.25658883
60	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22566399
61	ER_23166858_ChIP-Seq_MCF-7_Human	1.22234141
62	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.21753657
63	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.17355781
64	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.17227406
65	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.17145500
66	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.16842764
67	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.16479313
68	CBP_20019798_ChIP-Seq_JUKART_Human	1.15951998
69	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.15951998
70	P300_19829295_ChIP-Seq_ESCs_Human	1.06839464
71	ELF5_23300383_ChIP-Seq_T47D_Human	1.05057596
72	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.04650267
73	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.03457357
74	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.02756940
75	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.02692109
76	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.02508462
77	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.00590915
78	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.00422998
79	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.96059848
80	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.94912191
81	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	0.92608267
82	TFEB_21752829_ChIP-Seq_HELA_Human	0.92318007
83	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.91023102
84	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.90535751
85	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.90302969
86	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.89775896
87	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.89775896
88	TP53_22573176_ChIP-Seq_HFKS_Human	0.87303979
89	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.87219022
90	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.85761207
91	CIITA_25753668_ChIP-Seq_RAJI_Human	0.85497977
92	SMAD_19615063_ChIP-ChIP_OVARY_Human	0.85411232
93	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.85072598
94	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.83960292
95	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.83022311
96	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.82142872
97	EGR1_19374776_ChIP-ChIP_THP-1_Human	0.81929893
98	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.80690517
99	SRY_22984422_ChIP-ChIP_TESTIS_Rat	0.79461938
100	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.78222849

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003806_abnormal_nucleotide_metabolis	4.63264659
2	MP0008057_abnormal_DNA_replication	4.21529130
3	MP0000569_abnormal_digit_pigmentation	3.88634229
4	MP0008995_early_reproductive_senescence	3.65511924
5	MP0000566_synostosis	3.41044360
6	MP0003693_abnormal_embryo_hatching	3.28157152
7	MP0008058_abnormal_DNA_repair	2.99325379
8	MP0008877_abnormal_DNA_methylation	2.90533200
9	MP0005646_abnormal_pituitary_gland	2.87434254
10	MP0010094_abnormal_chromosome_stability	2.82870508
11	MP0003111_abnormal_nucleus_morphology	2.80168679
12	MP0002822_catalepsy	2.71730827
13	MP0003786_premature_aging	2.49695975
14	MP0002938_white_spotting	2.29765088
15	MP0001764_abnormal_homeostasis	2.23669836
16	MP0003077_abnormal_cell_cycle	2.04189208
17	MP0003718_maternal_effect	1.94734956
18	MP0004957_abnormal_blastocyst_morpholog	1.88386325
19	MP0002396_abnormal_hematopoietic_system	1.74194833
20	MP0004134_abnormal_chest_morphology	1.68838759
21	MP0010386_abnormal_urinary_bladder	1.68130406
22	MP0003186_abnormal_redox_activity	1.67630091
23	MP0009046_muscle_twitch	1.65317712
24	MP0002638_abnormal_pupillary_reflex	1.62738528
25	MP0005174_abnormal_tail_pigmentation	1.61062660
26	MP0005171_absent_coat_pigmentation	1.57615549
27	MP0003136_yellow_coat_color	1.53987505
28	MP0009697_abnormal_copulation	1.50626913
29	MP0000015_abnormal_ear_pigmentation	1.46246483
30	MP0003787_abnormal_imprinting	1.46232989
31	MP0008007_abnormal_cellular_replicative	1.42728167
32	MP0003890_abnormal_embryonic-extraembry	1.39678340
33	MP0005670_abnormal_white_adipose	1.32257471
34	MP0005266_abnormal_metabolism	1.30500759
35	MP0001485_abnormal_pinna_reflex	1.29473837
36	MP0002095_abnormal_skin_pigmentation	1.28994242
37	MP0005551_abnormal_eye_electrophysiolog	1.26329798
38	MP0006072_abnormal_retinal_apoptosis	1.24723734
39	MP0001984_abnormal_olfaction	1.20254656
40	MP0001853_heart_inflammation	1.19870591
41	MP0001661_extended_life_span	1.18477085
42	MP0008872_abnormal_physiological_respon	1.16668583
43	MP0005367_renal/urinary_system_phenotyp	1.16521025
44	MP0000516_abnormal_urinary_system	1.16521025
45	MP0005084_abnormal_gallbladder_morpholo	1.15781919
46	MP0005332_abnormal_amino_acid	1.13211314
47	MP0003195_calcinosis	1.12735256
48	MP0006036_abnormal_mitochondrial_physio	1.12569659
49	MP0005645_abnormal_hypothalamus_physiol	1.12251221
50	MP0002210_abnormal_sex_determination	1.09785746
51	MP0005376_homeostasis/metabolism_phenot	1.05560454
52	MP0005310_abnormal_salivary_gland	1.05137207
53	MP0001697_abnormal_embryo_size	1.01389494
54	MP0002837_dystrophic_cardiac_calcinosis	1.00297100
55	MP0000631_abnormal_neuroendocrine_gland	0.97752759
56	MP0002160_abnormal_reproductive_system	0.97319247
57	MP0008932_abnormal_embryonic_tissue	0.95518535
58	MP0010307_abnormal_tumor_latency	0.94279669
59	MP0005408_hypopigmentation	0.92740062
60	MP0005253_abnormal_eye_physiology	0.92518916
61	MP0000371_diluted_coat_color	0.92301146
62	MP0003183_abnormal_peptide_metabolism	0.91923369
63	MP0001293_anophthalmia	0.91844311
64	MP0002019_abnormal_tumor_incidence	0.89945429
65	MP0000653_abnormal_sex_gland	0.86981534
66	MP0001145_abnormal_male_reproductive	0.86321457
67	MP0000372_irregular_coat_pigmentation	0.85756015
68	MP0003567_abnormal_fetal_cardiomyocyte	0.81321983
69	MP0002111_abnormal_tail_morphology	0.80035663
70	MP0001756_abnormal_urination	0.78571281
71	MP0000383_abnormal_hair_follicle	0.78101420
72	MP0001929_abnormal_gametogenesis	0.76322477
73	MP0000350_abnormal_cell_proliferation	0.76259389
74	MP0002272_abnormal_nervous_system	0.75429092
75	MP0008875_abnormal_xenobiotic_pharmacok	0.74305903
76	MP0005395_other_phenotype	0.73124056
77	MP0002971_abnormal_brown_adipose	0.72993489
78	MP0003121_genomic_imprinting	0.70298220
79	MP0000313_abnormal_cell_death	0.68005200
80	MP0009745_abnormal_behavioral_response	0.67967821
81	MP0001486_abnormal_startle_reflex	0.67741714
82	MP0004133_heterotaxia	0.67484785
83	MP0002736_abnormal_nociception_after	0.66352809
84	MP0000703_abnormal_thymus_morphology	0.66106264
85	MP0005423_abnormal_somatic_nervous	0.64000735
86	MP0001968_abnormal_touch/_nociception	0.63315857
87	MP0002166_altered_tumor_susceptibility	0.59312569
88	MP0001944_abnormal_pancreas_morphology	0.58991281
89	MP0009115_abnormal_fat_cell	0.58565645
90	MP0002088_abnormal_embryonic_growth/wei	0.58308305
91	MP0004381_abnormal_hair_follicle	0.57693855
92	MP0003984_embryonic_growth_retardation	0.57256628
93	MP0001672_abnormal_embryogenesis/_devel	0.56409524
94	MP0005380_embryogenesis_phenotype	0.56409524
95	MP0003698_abnormal_male_reproductive	0.56232061
96	MP0002735_abnormal_chemical_nociception	0.56148019
97	MP0005389_reproductive_system_phenotype	0.56057725
98	MP0003755_abnormal_palate_morphology	0.55842107
99	MP0002084_abnormal_developmental_patter	0.55774565
100	MP0005647_abnormal_sex_gland	0.55631848

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute encephalopathy (HP:0006846)	4.06508051
2	Birth length less than 3rd percentile (HP:0003561)	3.88076669
3	Acute necrotizing encephalopathy (HP:0006965)	3.84634549
4	Chromsome breakage (HP:0040012)	3.61057706
5	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.60901192
6	Abnormality of alanine metabolism (HP:0010916)	3.60901192
7	Hyperalaninemia (HP:0003348)	3.60901192
8	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.50875899
9	Progressive macrocephaly (HP:0004481)	3.41657312
10	Constricted visual fields (HP:0001133)	3.38698816
11	Abnormal mitochondria in muscle tissue (HP:0008316)	3.31490542
12	Methylmalonic acidemia (HP:0002912)	3.30697853
13	Bradycardia (HP:0001662)	3.25848159
14	Hyperglycinemia (HP:0002154)	3.24091035
15	Gaze-evoked nystagmus (HP:0000640)	3.14697095
16	Cerebral edema (HP:0002181)	3.13196286
17	Methylmalonic aciduria (HP:0012120)	3.10426552
18	Volvulus (HP:0002580)	3.10382214
19	Mitochondrial inheritance (HP:0001427)	3.09654217
20	Abnormal number of erythroid precursors (HP:0012131)	3.08897958
21	Abnormality of cells of the erythroid lineage (HP:0012130)	3.08282866
22	Increased CSF lactate (HP:0002490)	2.89645858
23	Microvesicular hepatic steatosis (HP:0001414)	2.71804807
24	Patchy hypopigmentation of hair (HP:0011365)	2.69005609
25	Hypothermia (HP:0002045)	2.67301066
26	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.63439335
27	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.61410475
28	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.57924828
29	Lactic acidosis (HP:0003128)	2.51519794
30	Albinism (HP:0001022)	2.46699493
31	Abnormality of the preputium (HP:0100587)	2.40646928
32	Pendular nystagmus (HP:0012043)	2.40002605
33	Abnormal umbilical cord blood vessels (HP:0011403)	2.38382026
34	Single umbilical artery (HP:0001195)	2.38382026
35	Abnormality of the fetal cardiovascular system (HP:0010948)	2.38382026
36	Increased hepatocellular lipid droplets (HP:0006565)	2.32331833
37	Synostosis involving the elbow (HP:0003938)	2.31978867
38	Humeroradial synostosis (HP:0003041)	2.31978867
39	Septo-optic dysplasia (HP:0100842)	2.30285669
40	Hepatocellular necrosis (HP:0001404)	2.28071306
41	Reticulocytopenia (HP:0001896)	2.27681893
42	Stenosis of the external auditory canal (HP:0000402)	2.27662663
43	Increased serum lactate (HP:0002151)	2.27345352
44	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.25694484
45	Abnormality of serum amino acid levels (HP:0003112)	2.25133838
46	Limb hypertonia (HP:0002509)	2.24721008
47	Attenuation of retinal blood vessels (HP:0007843)	2.22913838
48	Abnormality of chromosome stability (HP:0003220)	2.13346279
49	Spinal muscular atrophy (HP:0007269)	2.11201716
50	Absent septum pellucidum (HP:0001331)	2.10610514
51	Inability to walk (HP:0002540)	2.09399982
52	Abnormality of the septum pellucidum (HP:0007375)	2.08114213
53	Horizontal nystagmus (HP:0000666)	2.07771703
54	Menstrual irregularities (HP:0000858)	2.06312502
55	Congenital, generalized hypertrichosis (HP:0004540)	2.05785945
56	Congenital sensorineural hearing impairment (HP:0008527)	2.05671160
57	Exercise intolerance (HP:0003546)	2.03882105
58	White forelock (HP:0002211)	2.03870689
59	Brittle hair (HP:0002299)	2.02166476
60	Progressive cerebellar ataxia (HP:0002073)	2.01459884
61	Lipid accumulation in hepatocytes (HP:0006561)	2.00001003
62	Overlapping toe (HP:0001845)	1.98392285
63	Abnormality of vitamin B metabolism (HP:0004340)	1.96128673
64	Homocystinuria (HP:0002156)	1.95076912
65	Abnormality of homocysteine metabolism (HP:0010919)	1.95076912
66	Abnormal rod and cone electroretinograms (HP:0008323)	1.93865364
67	Abnormality of methionine metabolism (HP:0010901)	1.91940098
68	Decreased subcutaneous fat (HP:0001002)	1.91203144
69	Hepatic necrosis (HP:0002605)	1.89904558
70	Cutaneous melanoma (HP:0012056)	1.89798024
71	Congenital stationary night blindness (HP:0007642)	1.89666892
72	Optic disc pallor (HP:0000543)	1.88197765
73	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.86516786
74	Muscular hypotonia of the trunk (HP:0008936)	1.84592018
75	Progressive inability to walk (HP:0002505)	1.84568231
76	Hyperglycinuria (HP:0003108)	1.83208999
77	Ectopic kidney (HP:0000086)	1.83089249
78	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.82621683
79	Atonic seizures (HP:0010819)	1.81831321
80	Meckel diverticulum (HP:0002245)	1.81237054
81	Small hand (HP:0200055)	1.79902343
82	Bony spicule pigmentary retinopathy (HP:0007737)	1.79674130
83	Abnormality of the labia minora (HP:0012880)	1.78021286
84	Neutropenia (HP:0001875)	1.77876865
85	Abnormality of the ileum (HP:0001549)	1.74817640
86	Metabolic acidosis (HP:0001942)	1.73269667
87	Gonadotropin excess (HP:0000837)	1.73113158
88	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.72981591
89	Exertional dyspnea (HP:0002875)	1.72106007
90	Postnatal growth retardation (HP:0008897)	1.71715404
91	3-Methylglutaconic aciduria (HP:0003535)	1.70880381
92	Leukodystrophy (HP:0002415)	1.70832531
93	Pancytopenia (HP:0001876)	1.70446485
94	Tubulointerstitial nephritis (HP:0001970)	1.69869128
95	Dyskinesia (HP:0100660)	1.69842837
96	Abnormal lung lobation (HP:0002101)	1.69691134
97	Dicarboxylic aciduria (HP:0003215)	1.68317815
98	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.68317815
99	Small for gestational age (HP:0001518)	1.67322055
100	Multiple enchondromatosis (HP:0005701)	1.67167109

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BUB1	3.57968982
2	FRK	3.53130975
3	MST4	3.06479788
4	SRPK1	2.92656596
5	SIK2	2.71336027
6	MKNK2	2.59730244
7	TNK2	2.48661118
8	EIF2AK3	2.44460274
9	WNK3	2.37652581
10	BRSK2	2.36494662
11	ACVR1B	2.19380152
12	STK16	2.08974146
13	PLK4	1.96843813
14	NME1	1.89552987
15	CDC7	1.79483569
16	ZAK	1.78910860
17	PDK2	1.64829008
18	PINK1	1.57252311
19	GRK1	1.47739255
20	MKNK1	1.47346960
21	BMPR1B	1.45702159
22	WEE1	1.41399534
23	TEC	1.33300959
24	NME2	1.28191425
25	TTK	1.22094984
26	WNK1	1.18737647
27	MAP3K3	1.18265291
28	IKBKB	1.18023351
29	CHEK1	1.15985357
30	PLK2	1.13954334
31	MARK3	1.13885816
32	SGK2	1.12608874
33	MAPKAPK3	1.12315271
34	PBK	1.10450523
35	MAP2K3	1.08987858
36	CHEK2	1.06976028
37	AURKB	1.02464129
38	PLK3	1.02174316
39	ICK	1.01875863
40	VRK1	1.01671916
41	ATR	1.01543018
42	CDK9	1.00545986
43	RPS6KA4	0.93462990
44	RPS6KA5	0.92556556
45	PLK1	0.91524315
46	EIF2AK1	0.91334016
47	VRK2	0.91158509
48	JAK3	0.89659255
49	PIK3CG	0.87978849
50	TSSK6	0.82050843
51	RPS6KB2	0.81551593
52	MAP3K4	0.77439706
53	PRKCI	0.77253683
54	OXSR1	0.76796306
55	PIM1	0.76124400
56	BRSK1	0.74991616
57	YES1	0.74182271
58	NEK1	0.72947246
59	SGK494	0.67795036
60	SGK223	0.67795036
61	FLT3	0.67014436
62	TAOK3	0.66427410
63	CSNK2A2	0.64830093
64	AURKA	0.63949681
65	CDK1	0.60741194
66	TXK	0.60072005
67	ATM	0.59756339
68	CSNK1E	0.58686130
69	PTK2B	0.57978086
70	MAP4K2	0.57647185
71	CDK8	0.57243158
72	STK4	0.56480308
73	MAPK11	0.56090402
74	SGK1	0.55607874
75	STK10	0.54127963
76	SGK3	0.53587052
77	MAP3K5	0.53345640
78	CAMK2G	0.52725885
79	CSNK1A1	0.52368012
80	STK39	0.51617027
81	PRKACB	0.51046445
82	NUAK1	0.50469122
83	ALK	0.50125488
84	CDK2	0.49296351
85	RPS6KA1	0.46898245
86	PRKCG	0.45810614
87	CSNK2A1	0.45659343
88	CCNB1	0.45593613
89	ERBB4	0.43680708
90	IRAK1	0.43513029
91	DYRK2	0.43418660
92	CHUK	0.41983803
93	MELK	0.41729106
94	ERBB3	0.41254519
95	PRKCE	0.39831886
96	FGFR1	0.38407606
97	TLK1	0.37550785
98	MAPK14	0.37286441
99	STK3	0.36781565
100	AKT1	0.36190291

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	One carbon pool by folate_Homo sapiens_hsa00670	3.59332771
2	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	3.34769472
3	Protein export_Homo sapiens_hsa03060	3.14574359
4	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.00451868
5	RNA polymerase_Homo sapiens_hsa03020	2.92852887
6	Homologous recombination_Homo sapiens_hsa03440	2.88612315
7	DNA replication_Homo sapiens_hsa03030	2.72859816
8	Ribosome_Homo sapiens_hsa03010	2.69440033
9	RNA degradation_Homo sapiens_hsa03018	2.61227636
10	Oxidative phosphorylation_Homo sapiens_hsa00190	2.60625321
11	Fanconi anemia pathway_Homo sapiens_hsa03460	2.59346727
12	Proteasome_Homo sapiens_hsa03050	2.58839095
13	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.46906665
14	Mismatch repair_Homo sapiens_hsa03430	2.27878158
15	Non-homologous end-joining_Homo sapiens_hsa03450	2.18437258
16	Nucleotide excision repair_Homo sapiens_hsa03420	2.07347890
17	Propanoate metabolism_Homo sapiens_hsa00640	2.00959550
18	Spliceosome_Homo sapiens_hsa03040	1.99517858
19	Base excision repair_Homo sapiens_hsa03410	1.96405165
20	Basal transcription factors_Homo sapiens_hsa03022	1.96084740
21	RNA transport_Homo sapiens_hsa03013	1.92752825
22	Parkinsons disease_Homo sapiens_hsa05012	1.92197845
23	Selenocompound metabolism_Homo sapiens_hsa00450	1.80998070
24	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.78019977
25	Huntingtons disease_Homo sapiens_hsa05016	1.53201499
26	Pyrimidine metabolism_Homo sapiens_hsa00240	1.52339902
27	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.51690983
28	Nicotine addiction_Homo sapiens_hsa05033	1.51530883
29	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.42000630
30	mRNA surveillance pathway_Homo sapiens_hsa03015	1.33328612
31	Regulation of autophagy_Homo sapiens_hsa04140	1.26765099
32	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.24608473
33	Collecting duct acid secretion_Homo sapiens_hsa04966	1.22981647
34	Taste transduction_Homo sapiens_hsa04742	1.21962377
35	Alzheimers disease_Homo sapiens_hsa05010	1.20619975
36	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.20101048
37	Sulfur metabolism_Homo sapiens_hsa00920	1.18687558
38	Purine metabolism_Homo sapiens_hsa00230	1.17607191
39	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.11420206
40	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.02473395
41	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.02172178
42	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.98782492
43	Cell cycle_Homo sapiens_hsa04110	0.92797706
44	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.90513818
45	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.86180924
46	Olfactory transduction_Homo sapiens_hsa04740	0.83065130
47	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.73944818
48	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.70884753
49	Metabolic pathways_Homo sapiens_hsa01100	0.68637424
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.68019343
51	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.65674826
52	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.65139799
53	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.64737694
54	Oocyte meiosis_Homo sapiens_hsa04114	0.63771189
55	p53 signaling pathway_Homo sapiens_hsa04115	0.62036836
56	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.61024149
57	Butanoate metabolism_Homo sapiens_hsa00650	0.55036952
58	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.53644352
59	Chemical carcinogenesis_Homo sapiens_hsa05204	0.52602293
60	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.50935952
61	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.50236085
62	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.48692952
63	Retinol metabolism_Homo sapiens_hsa00830	0.48493674
64	Antigen processing and presentation_Homo sapiens_hsa04612	0.48425119
65	Linoleic acid metabolism_Homo sapiens_hsa00591	0.48125932
66	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.44285756
67	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.43782492
68	Primary immunodeficiency_Homo sapiens_hsa05340	0.43169025
69	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.43041637
70	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.38637345
71	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.38457486
72	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.37993196
73	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.36081249
74	Glutathione metabolism_Homo sapiens_hsa00480	0.35418640
75	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.34028920
76	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.33205979
77	Alcoholism_Homo sapiens_hsa05034	0.31647761
78	Melanoma_Homo sapiens_hsa05218	0.31626236
79	Vibrio cholerae infection_Homo sapiens_hsa05110	0.31373361
80	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.31190080
81	Fatty acid elongation_Homo sapiens_hsa00062	0.31134020
82	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.30308729
83	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.29822016
84	Steroid biosynthesis_Homo sapiens_hsa00100	0.29668515
85	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.28800930
86	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.28764988
87	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.28714397
88	Peroxisome_Homo sapiens_hsa04146	0.28702948
89	Ether lipid metabolism_Homo sapiens_hsa00565	0.27975027
90	Type I diabetes mellitus_Homo sapiens_hsa04940	0.27269336
91	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.24271907
92	GABAergic synapse_Homo sapiens_hsa04727	0.18528419
93	Rheumatoid arthritis_Homo sapiens_hsa05323	0.16837577
94	Circadian rhythm_Homo sapiens_hsa04710	0.16396039
95	Tryptophan metabolism_Homo sapiens_hsa00380	0.16263279
96	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.15489880
97	Asthma_Homo sapiens_hsa05310	0.14259570
98	Cardiac muscle contraction_Homo sapiens_hsa04260	0.13761302
99	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.13248180
100	Mineral absorption_Homo sapiens_hsa04978	0.13025841

AURKAPS1

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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