ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	centriole replication (GO:0007099)	5.17831285
2	regulation of centriole replication (GO:0046599)	4.79620431
3	resolution of meiotic recombination intermediates (GO:0000712)	4.61131335
4	maturation of SSU-rRNA (GO:0030490)	4.50736540
5	centriole assembly (GO:0098534)	4.24765139
6	DNA replication checkpoint (GO:0000076)	4.07884978
7	behavioral response to nicotine (GO:0035095)	4.01512999
8	ribosomal small subunit assembly (GO:0000028)	3.91021332
9	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	3.88297189
10	microtubule depolymerization (GO:0007019)	3.87158151
11	replication fork processing (GO:0031297)	3.77653112
12	rRNA modification (GO:0000154)	3.60580915
13	sensory perception of smell (GO:0007608)	3.57968656
14	sperm motility (GO:0030317)	3.53396739
15	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.53329547
16	multicellular organism reproduction (GO:0032504)	3.49406548
17	meiotic chromosome segregation (GO:0045132)	3.47543956
18	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.37305851
19	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.36278075
20	ATP synthesis coupled proton transport (GO:0015986)	3.36278075
21	synapsis (GO:0007129)	3.33342683
22	ribosomal small subunit biogenesis (GO:0042274)	3.30125531
23	regulation of centrosome cycle (GO:0046605)	3.25682160
24	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.22757940
25	NADH dehydrogenase complex assembly (GO:0010257)	3.22757940
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.22757940
27	rRNA catabolic process (GO:0016075)	3.22625951
28	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.21162026
29	regulation of mitotic spindle checkpoint (GO:1903504)	3.21162026
30	nonmotile primary cilium assembly (GO:0035058)	3.16086279
31	rRNA methylation (GO:0031167)	3.11127707
32	ribosomal large subunit biogenesis (GO:0042273)	3.09738932
33	kinetochore assembly (GO:0051382)	3.07469802
34	establishment of protein localization to Golgi (GO:0072600)	3.06691110
35	kinetochore organization (GO:0051383)	3.04227285
36	sperm-egg recognition (GO:0035036)	3.01915578
37	regulation of centrosome duplication (GO:0010824)	3.01551393
38	double-strand break repair via homologous recombination (GO:0000724)	3.01496056
39	recombinational repair (GO:0000725)	2.99079039
40	microtubule polymerization or depolymerization (GO:0031109)	2.97738196
41	detection of chemical stimulus involved in sensory perception (GO:0050907)	2.93879359
42	ribonucleoprotein complex biogenesis (GO:0022613)	2.93839041
43	telomere maintenance via telomerase (GO:0007004)	2.92808674
44	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.90244566
45	histone exchange (GO:0043486)	2.90242986
46	pseudouridine synthesis (GO:0001522)	2.89211573
47	motile cilium assembly (GO:0044458)	2.87877112
48	regulation of cilium movement (GO:0003352)	2.87166960
49	DNA methylation involved in gamete generation (GO:0043046)	2.81390328
50	ribosome biogenesis (GO:0042254)	2.79694365
51	translational termination (GO:0006415)	2.79483916
52	protein complex biogenesis (GO:0070271)	2.76115725
53	cellular component biogenesis (GO:0044085)	2.75895142
54	water-soluble vitamin biosynthetic process (GO:0042364)	2.74143971
55	viral transcription (GO:0019083)	2.73525586
56	fusion of sperm to egg plasma membrane (GO:0007342)	2.73086127
57	nuclear pore complex assembly (GO:0051292)	2.72769644
58	protein-cofactor linkage (GO:0018065)	2.72666750
59	chromatin remodeling at centromere (GO:0031055)	2.72019820
60	spliceosomal complex assembly (GO:0000245)	2.72016428
61	cilium movement (GO:0003341)	2.69566725
62	centrosome duplication (GO:0051298)	2.69279524
63	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.68724794
64	mitochondrial respiratory chain complex assembly (GO:0033108)	2.68531793
65	telomere maintenance via semi-conservative replication (GO:0032201)	2.65495806
66	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.64839664
67	CENP-A containing nucleosome assembly (GO:0034080)	2.64757096
68	regulation of female receptivity (GO:0045924)	2.63704797
69	ubiquinone biosynthetic process (GO:0006744)	2.63420557
70	acrosome reaction (GO:0007340)	2.60757451
71	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.59690576
72	terpenoid biosynthetic process (GO:0016114)	2.59200764
73	DNA strand elongation involved in DNA replication (GO:0006271)	2.58792024
74	centrosome organization (GO:0051297)	2.57790281
75	protein targeting to Golgi (GO:0000042)	2.56383474
76	adaptation of signaling pathway (GO:0023058)	2.55352110
77	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.55314202
78	male meiosis I (GO:0007141)	2.54878814
79	DNA damage response, detection of DNA damage (GO:0042769)	2.53127155
80	respiratory chain complex IV assembly (GO:0008535)	2.52531679
81	male meiosis (GO:0007140)	2.51384425
82	regulation of DNA endoreduplication (GO:0032875)	2.50968186
83	spermatid development (GO:0007286)	2.50145863
84	reciprocal DNA recombination (GO:0035825)	2.49852925
85	reciprocal meiotic recombination (GO:0007131)	2.49852925
86	microtubule organizing center organization (GO:0031023)	2.49236434
87	ATP biosynthetic process (GO:0006754)	2.49088606
88	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.48038878
89	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.46889753
90	diterpenoid biosynthetic process (GO:0016102)	2.46800034
91	DNA packaging (GO:0006323)	2.46035254
92	sister chromatid segregation (GO:0000819)	2.44683127
93	ubiquinone metabolic process (GO:0006743)	2.44559973
94	DNA strand elongation (GO:0022616)	2.44243293
95	indolalkylamine metabolic process (GO:0006586)	2.43182137
96	tRNA aminoacylation for protein translation (GO:0006418)	2.42416472
97	peptidyl-histidine modification (GO:0018202)	2.41377144
98	nephron epithelium morphogenesis (GO:0072088)	2.41271477
99	nephron tubule morphogenesis (GO:0072078)	2.41271477
100	amino acid activation (GO:0043038)	2.41255844

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.24625437
2	E2F7_22180533_ChIP-Seq_HELA_Human	3.57429180
3	VDR_22108803_ChIP-Seq_LS180_Human	3.54062154
4	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.45046503
5	ZNF274_21170338_ChIP-Seq_K562_Hela	3.26179079
6	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.13873654
7	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.87753294
8	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.72056821
9	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.66972523
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.54589554
11	EWS_26573619_Chip-Seq_HEK293_Human	2.25736560
12	ELK1_19687146_ChIP-ChIP_HELA_Human	2.24078260
13	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.22581951
14	VDR_23849224_ChIP-Seq_CD4+_Human	1.97996672
15	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.97238699
16	FUS_26573619_Chip-Seq_HEK293_Human	1.96721497
17	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.89327781
18	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.85321850
19	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.85015908
20	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.83609717
21	IRF1_19129219_ChIP-ChIP_H3396_Human	1.83186373
22	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.79591347
23	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.77336153
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.76488401
25	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67909757
26	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.66851105
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.65607025
28	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.65056094
29	TAF15_26573619_Chip-Seq_HEK293_Human	1.60001646
30	IGF1R_20145208_ChIP-Seq_DFB_Human	1.59291343
31	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.58498629
32	P300_19829295_ChIP-Seq_ESCs_Human	1.52864837
33	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.47789590
34	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.43974851
35	FOXP3_21729870_ChIP-Seq_TREG_Human	1.40741571
36	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.40656016
37	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.40373584
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.39271347
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.38494037
40	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.37682397
41	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.36480865
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.35154137
43	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.35154137
44	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.33146708
45	GBX2_23144817_ChIP-Seq_PC3_Human	1.32512767
46	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.31130155
47	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.30104838
48	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.30104838
49	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.29045376
50	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.28510264
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.26627751
52	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.22429807
53	TTF2_22483619_ChIP-Seq_HELA_Human	1.21499551
54	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.20961714
55	GABP_19822575_ChIP-Seq_HepG2_Human	1.20307252
56	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.19901858
57	* TCF4_23295773_ChIP-Seq_U87_Human	1.19609345
58	SOX2_19829295_ChIP-Seq_ESCs_Human	1.17080029
59	NANOG_19829295_ChIP-Seq_ESCs_Human	1.17080029
60	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.16065149
61	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.14152455
62	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.13934642
63	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.13710606
64	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.12738509
65	STAT3_23295773_ChIP-Seq_U87_Human	1.10727548
66	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.10164538
67	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.08555478
68	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.08555478
69	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.08303730
70	RBPJ_21746931_ChIP-Seq_IB4_Human	1.07072822
71	* TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.06620528
72	HOXB7_26014856_ChIP-Seq_BT474_Human	1.06310483
73	* NCOR_22424771_ChIP-Seq_293T_Human	1.06098197
74	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.05374919
75	* CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.03696146
76	ETV1_20927104_ChIP-Seq_GIST48_Human	1.02497211
77	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.02020682
78	PHF8_20622853_ChIP-Seq_HELA_Human	1.01399882
79	TCF4_22108803_ChIP-Seq_LS180_Human	1.01339149
80	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.00682379
81	JUN_21703547_ChIP-Seq_K562_Human	1.00162641
82	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.99049082
83	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.98480264
84	RUNX2_22187159_ChIP-Seq_PCA_Human	0.97439467
85	SMAD4_21799915_ChIP-Seq_A2780_Human	0.97408449
86	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.96197668
87	AR_21572438_ChIP-Seq_LNCaP_Human	0.95289080
88	AR_25329375_ChIP-Seq_VCAP_Human	0.94432385
89	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.94302794
90	MYC_19829295_ChIP-Seq_ESCs_Human	0.94066255
91	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.94026259
92	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.93634905
93	KDM5A_27292631_Chip-Seq_BREAST_Human	0.93271506
94	ERA_21632823_ChIP-Seq_H3396_Human	0.92892671
95	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.91644269
96	P53_21459846_ChIP-Seq_SAOS-2_Human	0.90658516
97	DCP1A_22483619_ChIP-Seq_HELA_Human	0.90534569
98	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.90373653
99	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.89711096
100	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.88604560

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	3.43306557
2	MP0003136_yellow_coat_color	2.70807613
3	MP0005410_abnormal_fertilization	2.53282842
4	MP0008789_abnormal_olfactory_epithelium	2.38038474
5	MP0004147_increased_porphyrin_level	2.30408000
6	MP0008058_abnormal_DNA_repair	2.28771434
7	MP0003718_maternal_effect	2.22770809
8	MP0002102_abnormal_ear_morphology	2.15276044
9	MP0001529_abnormal_vocalization	2.06582717
10	MP0006276_abnormal_autonomic_nervous	2.05096051
11	MP0006072_abnormal_retinal_apoptosis	1.99143525
12	MP0010094_abnormal_chromosome_stability	1.99111382
13	MP0002736_abnormal_nociception_after	1.95895679
14	MP0000372_irregular_coat_pigmentation	1.95606352
15	MP0004145_abnormal_muscle_electrophysio	1.94471626
16	MP0009697_abnormal_copulation	1.88305904
17	MP0008877_abnormal_DNA_methylation	1.85208271
18	MP0008995_early_reproductive_senescence	1.84166958
19	MP0002132_abnormal_respiratory_system	1.80227932
20	MP0004957_abnormal_blastocyst_morpholog	1.80050539
21	MP0005646_abnormal_pituitary_gland	1.78317969
22	MP0005394_taste/olfaction_phenotype	1.78145697
23	MP0005499_abnormal_olfactory_system	1.78145697
24	MP0001293_anophthalmia	1.75860200
25	MP0001929_abnormal_gametogenesis	1.75439935
26	MP0003646_muscle_fatigue	1.74394506
27	MP0008872_abnormal_physiological_respon	1.70343372
28	MP0002160_abnormal_reproductive_system	1.67083179
29	MP0001968_abnormal_touch/_nociception	1.64558743
30	MP0002210_abnormal_sex_determination	1.64441950
31	MP0003693_abnormal_embryo_hatching	1.60682420
32	MP0002938_white_spotting	1.60072848
33	MP0004885_abnormal_endolymph	1.59680242
34	MP0003698_abnormal_male_reproductive	1.56676298
35	MP0004142_abnormal_muscle_tone	1.54529872
36	MP0002234_abnormal_pharynx_morphology	1.52346514
37	MP0003111_abnormal_nucleus_morphology	1.50368594
38	MP0005551_abnormal_eye_electrophysiolog	1.50282633
39	MP0003937_abnormal_limbs/digits/tail_de	1.40136853
40	MP0006035_abnormal_mitochondrial_morpho	1.37659744
41	MP0000631_abnormal_neuroendocrine_gland	1.37221330
42	MP0003123_paternal_imprinting	1.33982798
43	MP0003077_abnormal_cell_cycle	1.32033089
44	MP0006036_abnormal_mitochondrial_physio	1.30662459
45	MP0003121_genomic_imprinting	1.30351151
46	MP0005389_reproductive_system_phenotype	1.24689862
47	MP0005253_abnormal_eye_physiology	1.22372192
48	MP0003122_maternal_imprinting	1.22271699
49	MP0008057_abnormal_DNA_replication	1.21061025
50	MP0003938_abnormal_ear_development	1.20033893
51	MP0008775_abnormal_heart_ventricle	1.18461404
52	MP0008932_abnormal_embryonic_tissue	1.17960582
53	MP0000653_abnormal_sex_gland	1.14705960
54	MP0004043_abnormal_pH_regulation	1.14683292
55	MP0001145_abnormal_male_reproductive	1.12618877
56	MP0005360_urolithiasis	1.12588197
57	MP0005636_abnormal_mineral_homeostasis	1.08721803
58	MP0001919_abnormal_reproductive_system	1.08429645
59	MP0002272_abnormal_nervous_system	1.07158732
60	MP0005083_abnormal_biliary_tract	1.06790168
61	MP0002653_abnormal_ependyma_morphology	1.05553729
62	MP0001485_abnormal_pinna_reflex	1.03155625
63	MP0000647_abnormal_sebaceous_gland	1.02706746
64	MP0005377_hearing/vestibular/ear_phenot	1.02110520
65	MP0003878_abnormal_ear_physiology	1.02110520
66	MP0005408_hypopigmentation	1.00162711
67	MP0003786_premature_aging	1.00053563
68	MP0000427_abnormal_hair_cycle	0.99628863
69	MP0003787_abnormal_imprinting	0.97394004
70	MP0002233_abnormal_nose_morphology	0.96347459
71	MP0001984_abnormal_olfaction	0.95456349
72	MP0001486_abnormal_startle_reflex	0.94824738
73	MP0002161_abnormal_fertility/fecundity	0.94589880
74	MP0003942_abnormal_urinary_system	0.92166138
75	MP0002095_abnormal_skin_pigmentation	0.91986820
76	MP0004742_abnormal_vestibular_system	0.90656316
77	MP0003315_abnormal_perineum_morphology	0.90288481
78	MP0003890_abnormal_embryonic-extraembry	0.90233500
79	MP0009379_abnormal_foot_pigmentation	0.88830071
80	MP0002163_abnormal_gland_morphology	0.88408612
81	MP0000049_abnormal_middle_ear	0.88183357
82	MP0001286_abnormal_eye_development	0.86929688
83	MP0005187_abnormal_penis_morphology	0.86749603
84	MP0003119_abnormal_digestive_system	0.86390946
85	MP0009046_muscle_twitch	0.86170201
86	MP0002184_abnormal_innervation	0.85845484
87	MP0004085_abnormal_heartbeat	0.85631993
88	MP0001661_extended_life_span	0.84881745
89	MP0002735_abnormal_chemical_nociception	0.82134950
90	MP0005391_vision/eye_phenotype	0.82124906
91	MP0002733_abnormal_thermal_nociception	0.80761499
92	MP0002557_abnormal_social/conspecific_i	0.80258348
93	MP0002282_abnormal_trachea_morphology	0.80171126
94	MP0008007_abnormal_cellular_replicative	0.79210739
95	MP0003385_abnormal_body_wall	0.78982230
96	MP0001119_abnormal_female_reproductive	0.76924478
97	MP0005395_other_phenotype	0.74758014
98	MP0009780_abnormal_chondrocyte_physiolo	0.73963150
99	MP0000358_abnormal_cell_content/	0.72176982
100	MP0002752_abnormal_somatic_nervous	0.71725946

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Reticulocytopenia (HP:0001896)	3.85590186
2	Pancreatic cysts (HP:0001737)	3.33775182
3	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.22647344
4	Abnormality of midbrain morphology (HP:0002418)	3.19787965
5	Molar tooth sign on MRI (HP:0002419)	3.19787965
6	Abnormality of the labia minora (HP:0012880)	3.18024774
7	Nephronophthisis (HP:0000090)	3.17595470
8	Chromsome breakage (HP:0040012)	3.14726605
9	Abnormal ciliary motility (HP:0012262)	3.11004811
10	Acute necrotizing encephalopathy (HP:0006965)	3.05925417
11	Acute encephalopathy (HP:0006846)	2.88921635
12	Abnormality of the renal cortex (HP:0011035)	2.83275017
13	Tubular atrophy (HP:0000092)	2.78441156
14	Abnormality of cells of the erythroid lineage (HP:0012130)	2.76932805
15	Pancreatic fibrosis (HP:0100732)	2.75598233
16	Abnormality of reticulocytes (HP:0004312)	2.73809712
17	True hermaphroditism (HP:0010459)	2.71560980
18	Abnormality of the renal medulla (HP:0100957)	2.68765294
19	Pallor (HP:0000980)	2.67238030
20	Duodenal stenosis (HP:0100867)	2.65370715
21	Small intestinal stenosis (HP:0012848)	2.65370715
22	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.63820901
23	Abnormal mitochondria in muscle tissue (HP:0008316)	2.62798760
24	Abnormal respiratory motile cilium physiology (HP:0012261)	2.58338712
25	Increased CSF lactate (HP:0002490)	2.57743232
26	Macrocytic anemia (HP:0001972)	2.55990280
27	Short middle phalanx of the 5th finger (HP:0004220)	2.53853813
28	Acanthocytosis (HP:0001927)	2.53106525
29	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.52506571
30	Abnormality of alanine metabolism (HP:0010916)	2.49556157
31	Hyperalaninemia (HP:0003348)	2.49556157
32	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.49556157
33	Meckel diverticulum (HP:0002245)	2.48680398
34	Abnormality of the renal collecting system (HP:0004742)	2.44784820
35	Mitochondrial inheritance (HP:0001427)	2.44277837
36	Horseshoe kidney (HP:0000085)	2.43029836
37	Hyperthyroidism (HP:0000836)	2.42951616
38	Duplicated collecting system (HP:0000081)	2.41931444
39	Progressive macrocephaly (HP:0004481)	2.41011755
40	Abnormality of DNA repair (HP:0003254)	2.40886184
41	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	2.39765788
42	Birth length less than 3rd percentile (HP:0003561)	2.39377215
43	Abnormality of the ileum (HP:0001549)	2.39043904
44	Tubulointerstitial nephritis (HP:0001970)	2.38821983
45	Concave nail (HP:0001598)	2.38279054
46	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.38169190
47	Chronic hepatic failure (HP:0100626)	2.35805654
48	Abnormal respiratory motile cilium morphology (HP:0005938)	2.34915498
49	Abnormal respiratory epithelium morphology (HP:0012253)	2.34915498
50	Ectopic kidney (HP:0000086)	2.34089614
51	Abnormal number of erythroid precursors (HP:0012131)	2.31590547
52	Medial flaring of the eyebrow (HP:0010747)	2.31476783
53	Abnormality of chromosome stability (HP:0003220)	2.29606548
54	Hepatocellular necrosis (HP:0001404)	2.26416492
55	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	2.24100576
56	Abnormality of the duodenum (HP:0002246)	2.21775157
57	Reticulocytosis (HP:0001923)	2.20861066
58	Cerebellar dysplasia (HP:0007033)	2.20808899
59	Abnormality of the preputium (HP:0100587)	2.18685779
60	Abnormality of cochlea (HP:0000375)	2.15848802
61	Poikilocytosis (HP:0004447)	2.15013653
62	Aplasia/Hypoplasia of the earlobes (HP:0009906)	2.13675768
63	Impulsivity (HP:0100710)	2.09632662
64	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.07793959
65	Absent/shortened dynein arms (HP:0200106)	2.07793959
66	Abnormality of homocysteine metabolism (HP:0010919)	2.05411741
67	Homocystinuria (HP:0002156)	2.05411741
68	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.04826562
69	Aplasia/Hypoplasia of the sternum (HP:0006714)	2.03600879
70	Increased serum lactate (HP:0002151)	2.02111080
71	Absent thumb (HP:0009777)	2.01879882
72	Type II lissencephaly (HP:0007260)	2.01681834
73	Hepatic necrosis (HP:0002605)	2.01543819
74	Sloping forehead (HP:0000340)	2.00667540
75	Hypoplastic iliac wings (HP:0002866)	2.00441665
76	Truncus arteriosus (HP:0001660)	1.98430588
77	Abnormal rod and cone electroretinograms (HP:0008323)	1.98239294
78	Sclerocornea (HP:0000647)	1.97652916
79	Increased hepatocellular lipid droplets (HP:0006565)	1.94870369
80	Triphalangeal thumb (HP:0001199)	1.90991650
81	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.88262638
82	Cerebral edema (HP:0002181)	1.87382809
83	Methylmalonic acidemia (HP:0002912)	1.84770109
84	Anencephaly (HP:0002323)	1.84264318
85	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.83613296
86	Clubbing of toes (HP:0100760)	1.82372154
87	Hyperglycinemia (HP:0002154)	1.77893259
88	Aganglionic megacolon (HP:0002251)	1.77573856
89	Morphological abnormality of the inner ear (HP:0011390)	1.77550823
90	Lipid accumulation in hepatocytes (HP:0006561)	1.76776990
91	Bony spicule pigmentary retinopathy (HP:0007737)	1.75874032
92	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.74984873
93	Abnormality of the carotid arteries (HP:0005344)	1.74250272
94	Optic disc pallor (HP:0000543)	1.69229722
95	Hypoplasia of the pons (HP:0012110)	1.68777453
96	Cystic liver disease (HP:0006706)	1.68400170
97	Patellar aplasia (HP:0006443)	1.68265821
98	Depressed nasal ridge (HP:0000457)	1.67143186
99	Aplasia/Hypoplasia of the patella (HP:0006498)	1.65781863
100	Postaxial foot polydactyly (HP:0001830)	1.63735706

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	4.14424507
2	WNK4	3.58681697
3	EIF2AK1	3.28386619
4	TRIM28	3.02967368
5	MAP3K4	2.82401392
6	WNK3	2.56658635
7	TAOK3	2.44037730
8	NUAK1	2.36205735
9	FRK	2.29800382
10	AKT3	2.21682363
11	CDC7	1.98026343
12	MKNK2	1.82792114
13	PDK2	1.80698439
14	PINK1	1.75815887
15	MAP4K2	1.75710358
16	BUB1	1.70519720
17	PBK	1.63258517
18	BMPR2	1.62126908
19	NTRK3	1.60924643
20	NEK2	1.55891592
21	STK39	1.53651794
22	ADRBK2	1.49657953
23	ZAK	1.47347687
24	LATS1	1.44343214
25	CDK8	1.42231849
26	BMPR1B	1.38818082
27	MAP2K7	1.24752742
28	MAPK13	1.23844993
29	PLK2	1.23721668
30	TTK	1.23127722
31	BRSK2	1.19510458
32	TNIK	1.18755500
33	MAP2K2	1.16029455
34	OBSCN	1.13828064
35	NEK1	1.12213520
36	SRPK1	1.10527265
37	GRK1	1.10369232
38	NME1	1.10075020
39	MKNK1	1.07735772
40	CCNB1	1.05784367
41	INSRR	1.04818852
42	PIK3CG	1.02560177
43	WNK1	1.02112821
44	PLK1	1.01912563
45	CHEK2	0.99478097
46	PLK3	0.91840298
47	BRSK1	0.91337408
48	STK16	0.91023375
49	CDK12	0.90349695
50	BRD4	0.90154796
51	CLK1	0.85941403
52	OXSR1	0.84464557
53	ATR	0.84208088
54	PTK2B	0.84150344
55	MST4	0.83092499
56	WEE1	0.81780874
57	DYRK2	0.81693523
58	EIF2AK3	0.79558291
59	TXK	0.75968492
60	AURKB	0.75307259
61	VRK1	0.72548179
62	ATM	0.72353651
63	TLK1	0.68210488
64	MAP2K1	0.66018712
65	CHEK1	0.65279973
66	TSSK6	0.61784154
67	RIPK4	0.60285338
68	ERBB3	0.58485281
69	CDK1	0.58071976
70	CSNK1E	0.57812673
71	MUSK	0.57792562
72	CSNK2A2	0.57757505
73	PNCK	0.57119226
74	STK3	0.55953434
75	ACVR1B	0.53489864
76	ERBB2	0.52989774
77	MARK3	0.52549808
78	DMPK	0.50439074
79	BCR	0.50122206
80	CASK	0.49859774
81	BRAF	0.49750052
82	CDK2	0.49439990
83	TEC	0.46415068
84	CSNK2A1	0.45586167
85	RPS6KA5	0.44244177
86	SIK2	0.42544443
87	PRKCG	0.42184387
88	AURKA	0.41411327
89	PRKACB	0.41071437
90	EIF2AK2	0.38695699
91	MINK1	0.37162730
92	DYRK3	0.35318491
93	PRKDC	0.35251495
94	CDK7	0.34588410
95	PAK3	0.33766544
96	STK38L	0.33550513
97	MAPK14	0.33353405
98	PRKACA	0.32655681
99	GSK3B	0.32373662
100	FLT3	0.32082956

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	3.38006440
2	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.08857124
3	Homologous recombination_Homo sapiens_hsa03440	3.06568798
4	Mismatch repair_Homo sapiens_hsa03430	3.03413693
5	Fanconi anemia pathway_Homo sapiens_hsa03460	2.65029214
6	One carbon pool by folate_Homo sapiens_hsa00670	2.64830943
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.56323656
8	Basal transcription factors_Homo sapiens_hsa03022	2.42944014
9	DNA replication_Homo sapiens_hsa03030	2.42445364
10	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.39636801
11	Olfactory transduction_Homo sapiens_hsa04740	2.34882370
12	Parkinsons disease_Homo sapiens_hsa05012	2.29875443
13	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23124044
14	RNA polymerase_Homo sapiens_hsa03020	2.18344940
15	RNA degradation_Homo sapiens_hsa03018	2.07427059
16	RNA transport_Homo sapiens_hsa03013	2.05606866
17	Huntingtons disease_Homo sapiens_hsa05016	1.95592277
18	Nucleotide excision repair_Homo sapiens_hsa03420	1.94675354
19	Proteasome_Homo sapiens_hsa03050	1.83672816
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.81000085
21	Propanoate metabolism_Homo sapiens_hsa00640	1.80599582
22	Steroid biosynthesis_Homo sapiens_hsa00100	1.74721540
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.69110860
24	Butanoate metabolism_Homo sapiens_hsa00650	1.67995132
25	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.67452182
26	Nicotine addiction_Homo sapiens_hsa05033	1.47944836
27	Spliceosome_Homo sapiens_hsa03040	1.43456798
28	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.42763110
29	Non-homologous end-joining_Homo sapiens_hsa03450	1.40028400
30	Linoleic acid metabolism_Homo sapiens_hsa00591	1.36120854
31	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.32879386
32	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.31812027
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.31075393
34	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.30449630
35	Alzheimers disease_Homo sapiens_hsa05010	1.29378471
36	Protein export_Homo sapiens_hsa03060	1.28361809
37	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.27891004
38	Nitrogen metabolism_Homo sapiens_hsa00910	1.24248556
39	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.22436948
40	Tryptophan metabolism_Homo sapiens_hsa00380	1.20733228
41	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.19294006
42	Pyrimidine metabolism_Homo sapiens_hsa00240	1.09691303
43	Phototransduction_Homo sapiens_hsa04744	1.07492986
44	Taste transduction_Homo sapiens_hsa04742	1.06460653
45	Purine metabolism_Homo sapiens_hsa00230	1.05203169
46	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.03629109
47	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.96130001
48	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89412703
49	Cell cycle_Homo sapiens_hsa04110	0.84553186
50	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.81300353
51	Retinol metabolism_Homo sapiens_hsa00830	0.81183128
52	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.80874508
53	Asthma_Homo sapiens_hsa05310	0.80848374
54	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.80275842
55	Pyruvate metabolism_Homo sapiens_hsa00620	0.79098334
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.77891316
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.77401011
58	Base excision repair_Homo sapiens_hsa03410	0.73735921
59	Metabolic pathways_Homo sapiens_hsa01100	0.69082217
60	Fat digestion and absorption_Homo sapiens_hsa04975	0.68093885
61	Caffeine metabolism_Homo sapiens_hsa00232	0.68042729
62	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.67045778
63	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.63771394
64	Ether lipid metabolism_Homo sapiens_hsa00565	0.63602038
65	Selenocompound metabolism_Homo sapiens_hsa00450	0.63407703
66	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63209393
67	Fatty acid metabolism_Homo sapiens_hsa01212	0.60854500
68	Peroxisome_Homo sapiens_hsa04146	0.59894264
69	mRNA surveillance pathway_Homo sapiens_hsa03015	0.58066267
70	Glutathione metabolism_Homo sapiens_hsa00480	0.57544489
71	beta-Alanine metabolism_Homo sapiens_hsa00410	0.57120521
72	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.56968442
73	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.54568102
74	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50243015
75	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.48339671
76	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.48319710
77	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.45512396
78	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.45423143
79	Carbon metabolism_Homo sapiens_hsa01200	0.44956843
80	Morphine addiction_Homo sapiens_hsa05032	0.42248361
81	Oocyte meiosis_Homo sapiens_hsa04114	0.41233459
82	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.40445300
83	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.38326097
84	Lysine degradation_Homo sapiens_hsa00310	0.35948486
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.34356110
86	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.34141219
87	p53 signaling pathway_Homo sapiens_hsa04115	0.33668285
88	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.32903271
89	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.31603832
90	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.31078894
91	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.27640580
92	Serotonergic synapse_Homo sapiens_hsa04726	0.25746902
93	Mineral absorption_Homo sapiens_hsa04978	0.25369282
94	Glycerolipid metabolism_Homo sapiens_hsa00561	0.25297681
95	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.22512016
96	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.20869474
97	Fatty acid degradation_Homo sapiens_hsa00071	0.20381195
98	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.20338588
99	GABAergic synapse_Homo sapiens_hsa04727	0.20020030
100	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.19403266

POTEE

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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