ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	histamine secretion (GO:0001821)	6.68215666
2	UTP biosynthetic process (GO:0006228)	6.21852709
3	GTP biosynthetic process (GO:0006183)	5.98091982
4	mitochondrial RNA metabolic process (GO:0000959)	5.70388428
5	UTP metabolic process (GO:0046051)	5.64804932
6	histamine transport (GO:0051608)	5.24927874
7	somite rostral/caudal axis specification (GO:0032525)	5.16063787
8	DNA deamination (GO:0045006)	5.15424160
9	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	5.09042892
10	phospholipid scrambling (GO:0017121)	4.91737846
11	CTP biosynthetic process (GO:0006241)	4.85634742
12	CTP metabolic process (GO:0046036)	4.85634742
13	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	4.72945046
14	transcription from mitochondrial promoter (GO:0006390)	4.64110446
15	nucleobase biosynthetic process (GO:0046112)	4.50587473
16	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	4.43013601
17	ncRNA catabolic process (GO:0034661)	4.23569778
18	pyrimidine ribonucleoside biosynthetic process (GO:0046132)	3.99394231
19	endoderm formation (GO:0001706)	3.94528282
20	respiratory chain complex IV assembly (GO:0008535)	3.92109784
21	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.87151297
22	pyrimidine ribonucleotide biosynthetic process (GO:0009220)	3.83550094
23	protein K6-linked ubiquitination (GO:0085020)	3.80844233
24	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	3.79072319
25	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.76893307
26	purine nucleobase biosynthetic process (GO:0009113)	3.73679536
27	cytochrome complex assembly (GO:0017004)	3.71266455
28	water-soluble vitamin biosynthetic process (GO:0042364)	3.66855354
29	viral mRNA export from host cell nucleus (GO:0046784)	3.64661581
30	myoblast migration (GO:0051451)	3.59891619
31	guanosine-containing compound biosynthetic process (GO:1901070)	3.58032001
32	positive regulation of RNA splicing (GO:0033120)	3.52328404
33	negative regulation of histone acetylation (GO:0035067)	3.52086068
34	protein K48-linked deubiquitination (GO:0071108)	3.47280013
35	protein K63-linked deubiquitination (GO:0070536)	3.42087781
36	mitochondrial fission (GO:0000266)	3.40102369
37	pyrimidine ribonucleotide metabolic process (GO:0009218)	3.37542264
38	regulation of B cell apoptotic process (GO:0002902)	3.36037842
39	pyrimidine ribonucleoside metabolic process (GO:0046131)	3.33552413
40	replication fork processing (GO:0031297)	3.33120100
41	negative regulation of systemic arterial blood pressure (GO:0003085)	3.31192833
42	regulation of mesoderm development (GO:2000380)	3.30164960
43	regulation of DNA endoreduplication (GO:0032875)	3.29674972
44	IMP biosynthetic process (GO:0006188)	3.25939273
45	positive regulation of B cell differentiation (GO:0045579)	3.22251660
46	nucleoside diphosphate phosphorylation (GO:0006165)	3.20975925
47	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.19521151
48	fucose catabolic process (GO:0019317)	3.13775981
49	L-fucose metabolic process (GO:0042354)	3.13775981
50	L-fucose catabolic process (GO:0042355)	3.13775981
51	endosome to pigment granule transport (GO:0043485)	3.12016857
52	endosome to melanosome transport (GO:0035646)	3.12016857
53	nuclear pore complex assembly (GO:0051292)	3.00774589
54	regulation of centriole replication (GO:0046599)	2.99004351
55	aldehyde catabolic process (GO:0046185)	2.98040063
56	negative regulation of peptidyl-lysine acetylation (GO:2000757)	2.96838566
57	embryonic axis specification (GO:0000578)	2.94856758
58	positive regulation of organelle assembly (GO:1902117)	2.94471100
59	forebrain neuron differentiation (GO:0021879)	2.94275838
60	double-strand break repair via homologous recombination (GO:0000724)	2.94055365
61	ribosome assembly (GO:0042255)	2.94038232
62	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	2.92316239
63	negative regulation of protein acetylation (GO:1901984)	2.91837420
64	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	2.90188923
65	pyrimidine nucleotide biosynthetic process (GO:0006221)	2.89535763
66	positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)	2.88871590
67	positive regulation of cell cycle G1/S phase transition (GO:1902808)	2.88434469
68	regulation of phospholipase A2 activity (GO:0032429)	2.88035749
69	tachykinin receptor signaling pathway (GO:0007217)	2.87360473
70	DNA replication-dependent nucleosome assembly (GO:0006335)	2.86922345
71	DNA replication-dependent nucleosome organization (GO:0034723)	2.86922345
72	recombinational repair (GO:0000725)	2.86503933
73	DNA double-strand break processing (GO:0000729)	2.85955884
74	negative regulation of thymocyte apoptotic process (GO:0070244)	2.85502253
75	cytidine deamination (GO:0009972)	2.82683351
76	cytidine metabolic process (GO:0046087)	2.82683351
77	cytidine catabolic process (GO:0006216)	2.82683351
78	ribonucleoprotein complex disassembly (GO:0032988)	2.82147209
79	regulation of cilium movement (GO:0003352)	2.77939929
80	retinal rod cell development (GO:0046548)	2.77223850
81	IMP metabolic process (GO:0046040)	2.74523943
82	mitotic sister chromatid cohesion (GO:0007064)	2.72698848
83	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.72242737
84	amino acid activation (GO:0043038)	2.72061664
85	tRNA aminoacylation (GO:0043039)	2.72061664
86	ribosomal small subunit assembly (GO:0000028)	2.71557528
87	azole transport (GO:0045117)	2.71346026
88	response to X-ray (GO:0010165)	2.70964458
89	cellular response to exogenous dsRNA (GO:0071360)	2.70366470
90	valine metabolic process (GO:0006573)	2.66965013
91	cullin deneddylation (GO:0010388)	2.64578130
92	glutamine metabolic process (GO:0006541)	2.60461997
93	nucleoside diphosphate catabolic process (GO:0009134)	2.60326918
94	negative regulation of histone modification (GO:0031057)	2.59305780
95	vitamin biosynthetic process (GO:0009110)	2.59117034
96	NADPH regeneration (GO:0006740)	2.58724770
97	fat-soluble vitamin catabolic process (GO:0042363)	2.58662873
98	vitamin catabolic process (GO:0009111)	2.58662873
99	striatum development (GO:0021756)	2.58580257
100	embryonic pattern specification (GO:0009880)	2.58111971

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	5.01071885
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.93539588
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.83598056
4	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.72490123
5	E2F4_17652178_ChIP-ChIP_JURKAT_Human	3.65106729
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.63876805
7	ELK1_19687146_ChIP-ChIP_HELA_Human	3.29083477
8	E2F7_22180533_ChIP-Seq_HELA_Human	3.20338947
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	3.15600250
10	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.77728182
11	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.56231736
12	PCGF2_27294783_Chip-Seq_NPCs_Mouse	2.46995368
13	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.44469273
14	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.42606959
15	EWS_26573619_Chip-Seq_HEK293_Human	2.29810408
16	VDR_23849224_ChIP-Seq_CD4+_Human	2.23450576
17	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.23036888
18	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.17126529
19	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.17018502
20	PADI4_21655091_ChIP-ChIP_MCF-7_Human	2.16796647
21	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.08716339
22	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.99815596
23	ZNF274_21170338_ChIP-Seq_K562_Hela	1.98826028
24	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.95967975
25	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.94274789
26	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.80497852
27	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.76808842
28	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.76633674
29	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.76596659
30	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.73130204
31	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.70556288
32	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.68312332
33	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.64225618
34	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.59559035
35	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.56802906
36	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.56800543
37	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.55147089
38	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.54889170
39	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.49766804
40	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.49259069
41	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.48515435
42	FOXP3_21729870_ChIP-Seq_TREG_Human	1.46332152
43	MYC_18940864_ChIP-ChIP_HL60_Human	1.45282803
44	P300_19829295_ChIP-Seq_ESCs_Human	1.44672824
45	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.43347143
46	TAF15_26573619_Chip-Seq_HEK293_Human	1.42258296
47	FUS_26573619_Chip-Seq_HEK293_Human	1.40880912
48	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.40323611
49	KDM5A_27292631_Chip-Seq_BREAST_Human	1.39801774
50	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.35874035
51	BCAT_22108803_ChIP-Seq_LS180_Human	1.25903201
52	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24846894
53	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.22260695
54	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.21235473
55	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.20821827
56	TP53_16413492_ChIP-PET_HCT116_Human	1.20677029
57	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.19477266
58	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.18970968
59	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.16650530
60	IGF1R_20145208_ChIP-Seq_DFB_Human	1.14951582
61	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.14803331
62	GATA3_26560356_Chip-Seq_TH2_Human	1.13994481
63	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.13192091
64	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.13158586
65	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.12788284
66	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.09158859
67	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.09063427
68	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.08879299
69	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.08770743
70	ER_23166858_ChIP-Seq_MCF-7_Human	1.07743249
71	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.06728799
72	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.06395447
73	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05927372
74	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.04741192
75	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.04650799
76	ETV1_20927104_ChIP-Seq_GIST48_Human	1.02493233
77	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.01649313
78	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01142582
79	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.01142582
80	STAT3_23295773_ChIP-Seq_U87_Human	1.00356398
81	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.99920979
82	HOXB7_26014856_ChIP-Seq_BT474_Human	0.99420873
83	GATA3_26560356_Chip-Seq_TH1_Human	0.99261517
84	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.99249864
85	P300_18555785_Chip-Seq_ESCs_Mouse	0.99034126
86	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.98989674
87	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.97744195
88	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.97273388
89	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.96071988
90	NANOG_19829295_ChIP-Seq_ESCs_Human	0.95808123
91	SOX2_19829295_ChIP-Seq_ESCs_Human	0.95808123
92	PHF8_20622853_ChIP-Seq_HELA_Human	0.95721107
93	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.95712755
94	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.94090760
95	NMYC_18555785_Chip-Seq_ESCs_Mouse	0.93976849
96	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.93286407
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.92992044
98	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.92599524
99	SMAD1_18555785_Chip-Seq_ESCs_Mouse	0.91907619
100	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.90955783

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	5.95577429
2	MP0010094_abnormal_chromosome_stability	4.14718373
3	MP0003890_abnormal_embryonic-extraembry	3.58465686
4	MP0008058_abnormal_DNA_repair	3.51337734
5	MP0000569_abnormal_digit_pigmentation	2.94128792
6	MP0002396_abnormal_hematopoietic_system	2.63176325
7	MP0004957_abnormal_blastocyst_morpholog	2.62614441
8	MP0003806_abnormal_nucleotide_metabolis	2.47658378
9	MP0003786_premature_aging	2.43074334
10	MP0005310_abnormal_salivary_gland	2.41592687
11	MP0006072_abnormal_retinal_apoptosis	2.37608797
12	MP0003950_abnormal_plasma_membrane	2.28251555
13	MP0003111_abnormal_nucleus_morphology	2.26033919
14	MP0003119_abnormal_digestive_system	2.14685112
15	MP0003077_abnormal_cell_cycle	2.12628833
16	MP0008932_abnormal_embryonic_tissue	2.08751810
17	MP0002837_dystrophic_cardiac_calcinosis	2.03196808
18	MP0005075_abnormal_melanosome_morpholog	1.92048389
19	MP0003385_abnormal_body_wall	1.85865608
20	MP0005084_abnormal_gallbladder_morpholo	1.83711866
21	MP0000613_abnormal_salivary_gland	1.77227396
22	MP0002332_abnormal_exercise_endurance	1.68591784
23	MP0008789_abnormal_olfactory_epithelium	1.67160237
24	MP0002102_abnormal_ear_morphology	1.61904653
25	MP0004134_abnormal_chest_morphology	1.57136228
26	MP0000358_abnormal_cell_content/	1.55173256
27	MP0002084_abnormal_developmental_patter	1.49314391
28	MP0002138_abnormal_hepatobiliary_system	1.48468099
29	MP0003137_abnormal_impulse_conducting	1.47339103
30	MP0005551_abnormal_eye_electrophysiolog	1.44785996
31	MP0005248_abnormal_Harderian_gland	1.43266233
32	MP0003937_abnormal_limbs/digits/tail_de	1.36632086
33	MP0005083_abnormal_biliary_tract	1.33237683
34	MP0003693_abnormal_embryo_hatching	1.32921850
35	MP0002160_abnormal_reproductive_system	1.31908068
36	MP0000427_abnormal_hair_cycle	1.30956526
37	MP0003718_maternal_effect	1.29732776
38	MP0008775_abnormal_heart_ventricle	1.28175039
39	MP0005076_abnormal_cell_differentiation	1.24122405
40	MP0008057_abnormal_DNA_replication	1.20795447
41	MP0008995_early_reproductive_senescence	1.20249538
42	MP0006292_abnormal_olfactory_placode	1.13213645
43	MP0002111_abnormal_tail_morphology	1.12728243
44	MP0005394_taste/olfaction_phenotype	1.11065874
45	MP0005499_abnormal_olfactory_system	1.11065874
46	MP0001697_abnormal_embryo_size	1.09609823
47	MP0004133_heterotaxia	1.08450594
48	MP0003943_abnormal_hepatobiliary_system	1.08170440
49	MP0006276_abnormal_autonomic_nervous	1.08117429
50	MP0002234_abnormal_pharynx_morphology	1.07705407
51	MP0005380_embryogenesis_phenotype	1.07376435
52	MP0001672_abnormal_embryogenesis/_devel	1.07376435
53	MP0005266_abnormal_metabolism	1.06344443
54	MP0002095_abnormal_skin_pigmentation	1.04977089
55	MP0000371_diluted_coat_color	0.99705996
56	MP0005389_reproductive_system_phenotype	0.99204367
57	MP0002085_abnormal_embryonic_tissue	0.98393405
58	MP0004808_abnormal_hematopoietic_stem	0.97704742
59	MP0001968_abnormal_touch/_nociception	0.96548248
60	MP0006035_abnormal_mitochondrial_morpho	0.96199704
61	MP0002736_abnormal_nociception_after	0.96110071
62	MP0002088_abnormal_embryonic_growth/wei	0.93999119
63	MP0010307_abnormal_tumor_latency	0.93552172
64	MP0005253_abnormal_eye_physiology	0.92871156
65	MP0008007_abnormal_cellular_replicative	0.92361474
66	MP0002277_abnormal_respiratory_mucosa	0.90603011
67	MP0000383_abnormal_hair_follicle	0.90319246
68	MP0003984_embryonic_growth_retardation	0.89141082
69	MP0002928_abnormal_bile_duct	0.88298081
70	MP0001764_abnormal_homeostasis	0.87607080
71	MP0001727_abnormal_embryo_implantation	0.87134301
72	MP0005220_abnormal_exocrine_pancreas	0.85176320
73	MP0009046_muscle_twitch	0.77127920
74	MP0003880_abnormal_central_pattern	0.76507377
75	MP0001849_ear_inflammation	0.75077062
76	MP0006036_abnormal_mitochondrial_physio	0.74113333
77	MP0001730_embryonic_growth_arrest	0.72570188
78	MP0000689_abnormal_spleen_morphology	0.71710765
79	MP0002210_abnormal_sex_determination	0.71516463
80	MP0000538_abnormal_urinary_bladder	0.71512838
81	MP0005195_abnormal_posterior_eye	0.71417699
82	MP0002233_abnormal_nose_morphology	0.71407039
83	MP0009115_abnormal_fat_cell	0.71317506
84	MP0001929_abnormal_gametogenesis	0.68982145
85	MP0001119_abnormal_female_reproductive	0.68707824
86	MP0003936_abnormal_reproductive_system	0.68098721
87	MP0002166_altered_tumor_susceptibility	0.67489744
88	MP0001293_anophthalmia	0.67356584
89	MP0005330_cardiomyopathy	0.66236266
90	MP0002080_prenatal_lethality	0.64346800
91	MP0002019_abnormal_tumor_incidence	0.61027131
92	MP0005367_renal/urinary_system_phenotyp	0.60963921
93	MP0000516_abnormal_urinary_system	0.60963921
94	MP0005187_abnormal_penis_morphology	0.60947867
95	MP0002086_abnormal_extraembryonic_tissu	0.60466805
96	MP0002006_tumorigenesis	0.59869992
97	MP0005410_abnormal_fertilization	0.58712524
98	MP0002971_abnormal_brown_adipose	0.58114740
99	MP0000751_myopathy	0.58074489
100	MP0000647_abnormal_sebaceous_gland	0.57725812

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Dynein arm defect of respiratory motile cilia (HP:0012255)	8.76495437
2	Absent/shortened dynein arms (HP:0200106)	8.76495437
3	Panhypogammaglobulinemia (HP:0003139)	6.05952824
4	Atonic seizures (HP:0010819)	4.74142753
5	Abnormal ciliary motility (HP:0012262)	4.54319956
6	Infantile muscular hypotonia (HP:0008947)	4.48522259
7	Abnormal respiratory motile cilium morphology (HP:0005938)	4.12860599
8	Abnormal respiratory epithelium morphology (HP:0012253)	4.12860599
9	Chronic otitis media (HP:0000389)	3.64517246
10	Abnormal respiratory motile cilium physiology (HP:0012261)	3.30649667
11	Squamous cell carcinoma (HP:0002860)	3.04893204
12	Viral hepatitis (HP:0006562)	3.03150410
13	Limb hypertonia (HP:0002509)	3.00397138
14	Chronic hepatic failure (HP:0100626)	2.99280537
15	Abnormality of chromosome stability (HP:0003220)	2.94836162
16	Increased hepatocellular lipid droplets (HP:0006565)	2.94720294
17	Molar tooth sign on MRI (HP:0002419)	2.91988821
18	Abnormality of midbrain morphology (HP:0002418)	2.91988821
19	Agitation (HP:0000713)	2.83442625
20	Pancreatic cysts (HP:0001737)	2.83214204
21	Recurrent sinusitis (HP:0011108)	2.82042441
22	Agammaglobulinemia (HP:0004432)	2.76753941
23	Pancreatic fibrosis (HP:0100732)	2.73310749
24	Lipid accumulation in hepatocytes (HP:0006561)	2.70257029
25	Poikiloderma (HP:0001029)	2.69147653
26	Papilledema (HP:0001085)	2.63262489
27	Hemiplegia (HP:0002301)	2.62270431
28	Abnormality of the prostate (HP:0008775)	2.61276093
29	Fair hair (HP:0002286)	2.61235322
30	Bile duct proliferation (HP:0001408)	2.54198606
31	Abnormal biliary tract physiology (HP:0012439)	2.54198606
32	Abnormality of sulfur amino acid metabolism (HP:0004339)	2.51829768
33	Posterior subcapsular cataract (HP:0007787)	2.51015842
34	True hermaphroditism (HP:0010459)	2.49404286
35	Dialeptic seizures (HP:0011146)	2.49158554
36	Abnormality of DNA repair (HP:0003254)	2.47308506
37	Abdominal situs inversus (HP:0003363)	2.42223783
38	Abnormality of abdominal situs (HP:0011620)	2.42223783
39	Entropion (HP:0000621)	2.38474404
40	Medial flaring of the eyebrow (HP:0010747)	2.38100498
41	Tubulointerstitial nephritis (HP:0001970)	2.36310743
42	Adactyly (HP:0009776)	2.32044949
43	Abnormality of the right ventricle (HP:0001707)	2.31883701
44	Aplasia cutis congenita (HP:0001057)	2.30865512
45	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.30292628
46	Neoplasm of the adrenal cortex (HP:0100641)	2.28855202
47	Abnormality of the preputium (HP:0100587)	2.26024581
48	Broad alveolar ridges (HP:0000187)	2.25409595
49	Volvulus (HP:0002580)	2.24731587
50	Preaxial hand polydactyly (HP:0001177)	2.23996509
51	Exertional dyspnea (HP:0002875)	2.23532340
52	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.22772014
53	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.21633785
54	Sclerocornea (HP:0000647)	2.19750182
55	Gonadotropin excess (HP:0000837)	2.18073707
56	Clubbing of toes (HP:0100760)	2.15594213
57	Chromsome breakage (HP:0040012)	2.13376333
58	Abolished electroretinogram (ERG) (HP:0000550)	2.12361651
59	Recurrent viral infections (HP:0004429)	2.11974503
60	Renal Fanconi syndrome (HP:0001994)	2.11523313
61	Congenital primary aphakia (HP:0007707)	2.06925709
62	Absent thumb (HP:0009777)	2.05287746
63	Recurrent bacterial skin infections (HP:0005406)	2.05111949
64	Skull defect (HP:0001362)	2.03552964
65	Stenosis of the external auditory canal (HP:0000402)	2.02572131
66	Furrowed tongue (HP:0000221)	2.02193345
67	Increased CSF lactate (HP:0002490)	1.99152007
68	Ectopic kidney (HP:0000086)	1.98768846
69	Sparse scalp hair (HP:0002209)	1.97402051
70	Cystic liver disease (HP:0006706)	1.96169621
71	Gait imbalance (HP:0002141)	1.94066297
72	Growth hormone deficiency (HP:0000824)	1.93596175
73	Subcapsular cataract (HP:0000523)	1.93492164
74	Septate vagina (HP:0001153)	1.90254197
75	Meckel diverticulum (HP:0002245)	1.88714837
76	Abnormality of the ileum (HP:0001549)	1.87980087
77	Abnormality of B cell number (HP:0010975)	1.87552908
78	Abnormality of purine metabolism (HP:0004352)	1.84310731
79	Frequent falls (HP:0002359)	1.84084071
80	Congenital hepatic fibrosis (HP:0002612)	1.82324380
81	Disproportionate short-trunk short stature (HP:0003521)	1.81828917
82	Oculomotor apraxia (HP:0000657)	1.81519600
83	Abnormality of the left ventricular outflow tract (HP:0011103)	1.80591033
84	Subaortic stenosis (HP:0001682)	1.80591033
85	Absence seizures (HP:0002121)	1.79093787
86	Generalized hypopigmentation of hair (HP:0011358)	1.78891609
87	Increased serum lactate (HP:0002151)	1.78811062
88	Aplasia/Hypoplasia of the nipples (HP:0006709)	1.78292294
89	Multiple enchondromatosis (HP:0005701)	1.77906417
90	Nephrogenic diabetes insipidus (HP:0009806)	1.76044451
91	Thyroiditis (HP:0100646)	1.74863239
92	Optic nerve coloboma (HP:0000588)	1.74658514
93	Anencephaly (HP:0002323)	1.73694761
94	Focal seizures (HP:0007359)	1.73662174
95	Axonal loss (HP:0003447)	1.72535330
96	Sloping forehead (HP:0000340)	1.71021290
97	Birth length less than 3rd percentile (HP:0003561)	1.70920634
98	B lymphocytopenia (HP:0010976)	1.69570745
99	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.68058236
100	Bifid tongue (HP:0010297)	1.68002083

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PBK	5.67255958
2	ERBB4	5.00115001
3	STK16	4.74582658
4	BRSK2	3.46883035
5	TEC	3.43406696
6	FRK	3.38931762
7	EIF2AK3	3.09397551
8	ACVR1B	3.06326753
9	BMPR1B	3.05969846
10	TNIK	2.90544895
11	MARK3	2.05813026
12	PLK2	2.04300306
13	ITK	1.99143357
14	MKNK2	1.90027834
15	PLK3	1.82030944
16	TGFBR1	1.77652061
17	CCNB1	1.70147130
18	EIF2AK1	1.62802312
19	BTK	1.60315777
20	IRAK1	1.51469260
21	TSSK6	1.39511038
22	ZAK	1.38670067
23	BRSK1	1.34371888
24	MAP3K12	1.31284060
25	BRD4	1.29210857
26	EPHA4	1.27780658
27	NUAK1	1.26589373
28	MAP4K2	1.22343408
29	PLK4	1.18693440
30	MKNK1	1.13433776
31	SIK3	1.13417968
32	TGFBR2	1.02705863
33	CHEK2	0.97582507
34	TAF1	0.96119310
35	TLK1	0.90891075
36	SYK	0.83691045
37	TTK	0.83474585
38	PNCK	0.82167929
39	MELK	0.80402568
40	PTK2B	0.78110105
41	ADRBK2	0.76369152
42	VRK2	0.76244605
43	MAP2K7	0.75326264
44	CAMK1G	0.73539225
45	IRAK2	0.73054439
46	EIF2AK2	0.72176222
47	MAPKAPK5	0.70933616
48	WNK3	0.70228310
49	ATR	0.70108813
50	PLK1	0.67692197
51	PRKD3	0.65968239
52	ADRBK1	0.65579684
53	VRK1	0.65472429
54	ATM	0.62710560
55	MST4	0.58835532
56	SIK2	0.57534043
57	CDC7	0.56792741
58	DAPK1	0.56329329
59	MAPKAPK3	0.55491694
60	CDK8	0.55168552
61	MST1R	0.54023876
62	FER	0.53875047
63	PKN1	0.53527982
64	STK39	0.51610909
65	ALK	0.49516196
66	ERBB3	0.48023855
67	STK4	0.47354483
68	GRK1	0.45565603
69	CASK	0.42727658
70	PRKCQ	0.42258471
71	WEE1	0.41143869
72	MAP2K6	0.40917071
73	EPHA3	0.39537777
74	GRK5	0.38870174
75	PAK2	0.38667288
76	FLT3	0.38011505
77	INSRR	0.37818872
78	TIE1	0.37120919
79	FGR	0.36223136
80	PRKCH	0.33855065
81	PAK6	0.29906804
82	IKBKB	0.28889758
83	CHEK1	0.28829481
84	IGF1R	0.28496659
85	IRAK4	0.28030693
86	LYN	0.28010580
87	RPS6KB1	0.27868074
88	FGFR2	0.26371382
89	CAMK1D	0.25919542
90	TRPM7	0.25704058
91	PAK3	0.24982887
92	WNK4	0.23230762
93	MET	0.22960873
94	CDK2	0.21299909
95	PRKCI	0.21206358
96	AURKB	0.20886121
97	SCYL2	0.20045056
98	ABL1	0.19972433
99	MINK1	0.19442794
100	CDK12	0.17787556

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Sulfur metabolism_Homo sapiens_hsa00920	4.62107863
2	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	3.97119062
3	Non-homologous end-joining_Homo sapiens_hsa03450	3.90493653
4	Homologous recombination_Homo sapiens_hsa03440	3.79292803
5	Proteasome_Homo sapiens_hsa03050	3.36580485
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.76850190
7	One carbon pool by folate_Homo sapiens_hsa00670	2.51196507
8	RNA degradation_Homo sapiens_hsa03018	2.41554696
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.28702142
10	Phototransduction_Homo sapiens_hsa04744	2.27263137
11	Primary immunodeficiency_Homo sapiens_hsa05340	2.08955226
12	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	2.00995009
13	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.85078373
14	Basal transcription factors_Homo sapiens_hsa03022	1.83052156
15	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.81529873
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.77721603
17	RNA transport_Homo sapiens_hsa03013	1.75715050
18	DNA replication_Homo sapiens_hsa03030	1.73719633
19	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.63936891
20	Fatty acid elongation_Homo sapiens_hsa00062	1.59921786
21	Spliceosome_Homo sapiens_hsa03040	1.58897974
22	Selenocompound metabolism_Homo sapiens_hsa00450	1.56109023
23	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.55956549
24	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.53148625
25	Nucleotide excision repair_Homo sapiens_hsa03420	1.48564202
26	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.45645726
27	Cell cycle_Homo sapiens_hsa04110	1.45596298
28	RNA polymerase_Homo sapiens_hsa03020	1.36598361
29	Mismatch repair_Homo sapiens_hsa03430	1.35770853
30	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.32783276
31	Basal cell carcinoma_Homo sapiens_hsa05217	1.31158652
32	Pyruvate metabolism_Homo sapiens_hsa00620	1.27271636
33	p53 signaling pathway_Homo sapiens_hsa04115	1.22258438
34	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.22182154
35	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.16742513
36	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.14947607
37	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.09852770
38	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.08376024
39	Purine metabolism_Homo sapiens_hsa00230	1.05666204
40	Ether lipid metabolism_Homo sapiens_hsa00565	0.98030253
41	Linoleic acid metabolism_Homo sapiens_hsa00591	0.92183040
42	Base excision repair_Homo sapiens_hsa03410	0.92164141
43	Fatty acid metabolism_Homo sapiens_hsa01212	0.89937607
44	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.86062224
45	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.84769535
46	Propanoate metabolism_Homo sapiens_hsa00640	0.84734388
47	Sulfur relay system_Homo sapiens_hsa04122	0.82393332
48	Protein export_Homo sapiens_hsa03060	0.82024817
49	Peroxisome_Homo sapiens_hsa04146	0.80183880
50	Pyrimidine metabolism_Homo sapiens_hsa00240	0.78583938
51	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.78013454
52	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.76331102
53	Oocyte meiosis_Homo sapiens_hsa04114	0.75827042
54	Fatty acid degradation_Homo sapiens_hsa00071	0.73672163
55	Caffeine metabolism_Homo sapiens_hsa00232	0.70791782
56	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.69245629
57	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.68665918
58	Regulation of autophagy_Homo sapiens_hsa04140	0.64792285
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.64067664
60	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.64020936
61	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.63485986
62	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.62236777
63	Olfactory transduction_Homo sapiens_hsa04740	0.60854389
64	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.59977054
65	Steroid biosynthesis_Homo sapiens_hsa00100	0.59308840
66	Retinol metabolism_Homo sapiens_hsa00830	0.58636853
67	mRNA surveillance pathway_Homo sapiens_hsa03015	0.55193337
68	Glutathione metabolism_Homo sapiens_hsa00480	0.55150187
69	Pentose phosphate pathway_Homo sapiens_hsa00030	0.55127047
70	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.54181250
71	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.53534229
72	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.53011455
73	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52358432
74	Carbon metabolism_Homo sapiens_hsa01200	0.51795992
75	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.48511587
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.48495637
77	Hippo signaling pathway_Homo sapiens_hsa04390	0.45315634
78	Nitrogen metabolism_Homo sapiens_hsa00910	0.44848079
79	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.43555277
80	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.43404742
81	Metabolic pathways_Homo sapiens_hsa01100	0.41887578
82	Chemical carcinogenesis_Homo sapiens_hsa05204	0.41681794
83	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.40816885
84	Tight junction_Homo sapiens_hsa04530	0.34476902
85	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.32672740
86	Tyrosine metabolism_Homo sapiens_hsa00350	0.31213958
87	Platelet activation_Homo sapiens_hsa04611	0.30220761
88	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.29779662
89	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.29597793
90	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.24584075
91	Butanoate metabolism_Homo sapiens_hsa00650	0.24415154
92	Glycerolipid metabolism_Homo sapiens_hsa00561	0.24187850
93	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.20349929
94	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.18457051
95	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.16880317
96	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.16489834
97	Proteoglycans in cancer_Homo sapiens_hsa05205	0.13358150
98	Asthma_Homo sapiens_hsa05310	0.13128070
99	Parkinsons disease_Homo sapiens_hsa05012	0.11614963
100	Wnt signaling pathway_Homo sapiens_hsa04310	0.10951140

RPEP4

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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