ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	lipopolysaccharide biosynthetic process (GO:0009103)	9.57487250
2	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	9.45728696
3	protein-chromophore linkage (GO:0018298)	8.73480926
4	DNA methylation involved in gamete generation (GO:0043046)	8.57861283
5	lipopolysaccharide metabolic process (GO:0008653)	8.43098216
6	regulation of meiosis I (GO:0060631)	7.79353004
7	regulation of pigment cell differentiation (GO:0050932)	7.74337578
8	positive regulation of developmental pigmentation (GO:0048087)	7.74242153
9	negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)	7.68011227
10	regulation of protein glycosylation (GO:0060049)	7.54088353
11	negative regulation of glycoprotein biosynthetic process (GO:0010561)	7.47689131
12	sulfate transmembrane transport (GO:1902358)	7.28992338
13	paraxial mesoderm development (GO:0048339)	7.02023326
14	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	6.87090485
15	negative regulation of cell cycle G2/M phase transition (GO:1902750)	6.82955415
16	sulfate transport (GO:0008272)	6.26435864
17	piRNA metabolic process (GO:0034587)	5.90961855
18	SMAD protein complex assembly (GO:0007183)	5.90303897
19	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	5.71485720
20	L-phenylalanine catabolic process (GO:0006559)	5.71485720
21	notochord development (GO:0030903)	5.56789699
22	negative regulation of glycoprotein metabolic process (GO:1903019)	5.55938177
23	ribonucleoprotein complex disassembly (GO:0032988)	5.25278880
24	heme transport (GO:0015886)	5.18415480
25	tyrosine metabolic process (GO:0006570)	5.14540668
26	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	4.88484495
27	L-phenylalanine metabolic process (GO:0006558)	4.88484495
28	nodal signaling pathway (GO:0038092)	4.84345973
29	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.74548566
30	regulation of transforming growth factor beta2 production (GO:0032909)	4.72518121
31	negative regulation of stem cell proliferation (GO:2000647)	4.56854267
32	centriole replication (GO:0007099)	4.53136947
33	positive regulation of meiosis (GO:0045836)	4.39452211
34	germinal center formation (GO:0002467)	4.34457452
35	serotonin receptor signaling pathway (GO:0007210)	4.32261851
36	meiotic chromosome segregation (GO:0045132)	4.27689456
37	regulation of odontogenesis (GO:0042481)	4.23841168
38	regulation of interleukin-5 production (GO:0032674)	4.20158314
39	vitamin transmembrane transport (GO:0035461)	4.14783865
40	positive regulation of meiotic cell cycle (GO:0051446)	4.07504535
41	response to mercury ion (GO:0046689)	3.97760955
42	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	3.93547115
43	embryonic process involved in female pregnancy (GO:0060136)	3.92754324
44	organelle disassembly (GO:1903008)	3.91856489
45	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.90990877
46	regulation of developmental pigmentation (GO:0048070)	3.85233760
47	cellular response to gamma radiation (GO:0071480)	3.85212271
48	lysine catabolic process (GO:0006554)	3.83142981
49	lysine metabolic process (GO:0006553)	3.83142981
50	response to epinephrine (GO:0071871)	3.82997209
51	protein retention in ER lumen (GO:0006621)	3.82266915
52	DNA damage induced protein phosphorylation (GO:0006975)	3.81746234
53	flavonoid metabolic process (GO:0009812)	3.80461880
54	glycerol metabolic process (GO:0006071)	3.77707832
55	positive regulation of SMAD protein import into nucleus (GO:0060391)	3.76464080
56	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.76111652
57	tachykinin receptor signaling pathway (GO:0007217)	3.71815184
58	iron coordination entity transport (GO:1901678)	3.64800225
59	pantothenate metabolic process (GO:0015939)	3.63204512
60	sympathetic nervous system development (GO:0048485)	3.58982140
61	heart valve formation (GO:0003188)	3.58225483
62	toxin metabolic process (GO:0009404)	3.57460773
63	rhodopsin mediated signaling pathway (GO:0016056)	3.54743240
64	aspartate family amino acid catabolic process (GO:0009068)	3.54693226
65	sulfur compound transport (GO:0072348)	3.54083338
66	negative regulation of cell-matrix adhesion (GO:0001953)	3.53184628
67	aromatic amino acid family catabolic process (GO:0009074)	3.48203234
68	negative regulation of neural precursor cell proliferation (GO:2000178)	3.46110017
69	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	3.45523262
70	biotin metabolic process (GO:0006768)	3.33232719
71	alditol metabolic process (GO:0019400)	3.31303625
72	protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	3.27978200
73	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.26662346
74	inflammatory response to antigenic stimulus (GO:0002437)	3.21673947
75	regulation of keratinocyte proliferation (GO:0010837)	3.21227209
76	uterus development (GO:0060065)	3.20098411
77	organ induction (GO:0001759)	3.11708067
78	urate metabolic process (GO:0046415)	3.09497959
79	DNA alkylation (GO:0006305)	3.03939618
80	DNA methylation (GO:0006306)	3.03939618
81	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.03469636
82	regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	3.02509247
83	somite rostral/caudal axis specification (GO:0032525)	3.01154921
84	centriole assembly (GO:0098534)	3.00920970
85	regulation of hair follicle development (GO:0051797)	2.97686558
86	positive regulation of fatty acid oxidation (GO:0046321)	2.96749196
87	polyol biosynthetic process (GO:0046173)	2.96711010
88	regulation of translational termination (GO:0006449)	2.95596482
89	aromatic amino acid family metabolic process (GO:0009072)	2.95048535
90	negative regulation of BMP signaling pathway (GO:0030514)	2.91757723
91	regulation of SMAD protein import into nucleus (GO:0060390)	2.86109693
92	response to folic acid (GO:0051593)	2.82852103
93	oogenesis (GO:0048477)	2.81548294
94	bundle of His cell to Purkinje myocyte communication (GO:0086069)	2.80798810
95	membrane lipid biosynthetic process (GO:0046467)	2.80320214
96	sphingolipid biosynthetic process (GO:0030148)	2.78426589
97	cofactor transport (GO:0051181)	2.72526120
98	sphingosine metabolic process (GO:0006670)	17.2028834
99	diol metabolic process (GO:0034311)	15.6110350
100	sphingoid metabolic process (GO:0046519)	13.9803070

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	AR_21572438_ChIP-Seq_LNCaP_Human	5.35617533
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.81063453
3	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.86850966
4	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	3.21183156
5	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.04316801
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.00724991
7	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.90634910
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.59762774
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.26928281
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.22570348
11	P300_19829295_ChIP-Seq_ESCs_Human	2.14957377
12	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.12219075
13	EGR1_19032775_ChIP-ChIP_M12_Human	1.97296802
14	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.89109210
15	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.89109210
16	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.86862087
17	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.82525559
18	ZNF274_21170338_ChIP-Seq_K562_Hela	1.82208466
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.81529690
20	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.79096463
21	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	1.77568290
22	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.77329732
23	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.73626004
24	NANOG_19829295_ChIP-Seq_ESCs_Human	1.71379236
25	SOX2_19829295_ChIP-Seq_ESCs_Human	1.71379236
26	HOXB7_26014856_ChIP-Seq_BT474_Human	1.69530587
27	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.68906833
28	TCF4_23295773_ChIP-Seq_U87_Human	1.58076040
29	STAT3_23295773_ChIP-Seq_U87_Human	1.57303578
30	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.57041189
31	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.53281585
32	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.51201093
33	STAT1_20625510_ChIP-Seq_HELA_Human	1.49974004
34	STAT3_18555785_ChIP-Seq_MESCs_Mouse	1.48241832
35	EZH2_22144423_ChIP-Seq_EOC_Human	1.45917511
36	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.45047506
37	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.39535596
38	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.38693910
39	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.37477746
40	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.36405428
41	AR_25329375_ChIP-Seq_VCAP_Human	1.34980769
42	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.32931922
43	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.32360317
44	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.31464259
45	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.30676136
46	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.29554284
47	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.28864120
48	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.27803911
49	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.27374044
50	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.27271969
51	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.26101180
52	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.25982351
53	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.25424094
54	VDR_22108803_ChIP-Seq_LS180_Human	1.25247465
55	AR_19668381_ChIP-Seq_PC3_Human	1.24545676
56	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.23868379
57	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.23724375
58	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.23722294
59	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.23467976
60	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.23119721
61	OCT4_20526341_ChIP-Seq_ESCs_Human	1.22750698
62	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.22653788
63	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.22562052
64	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.22452851
65	SMAD4_21799915_ChIP-Seq_A2780_Human	1.21517301
66	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.20204339
67	TP53_16413492_ChIP-PET_HCT116_Human	1.18911908
68	TP53_18474530_ChIP-ChIP_U2OS_Human	1.18321041
69	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.17323662
70	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.13340370
71	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.13157077
72	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.12823205
73	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.11663480
74	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	1.10340395
75	TCF4_22108803_ChIP-Seq_LS180_Human	1.08708250
76	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.06730906
77	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.04498888
78	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03939761
79	RXR_22108803_ChIP-Seq_LS180_Human	1.03355015
80	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.02954512
81	NCOR_22424771_ChIP-Seq_293T_Human	1.02506705
82	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.01634384
83	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.01540785
84	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.00641493
85	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.00348953
86	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.00122138
87	TP63_23658742_ChIP-Seq_EP156T_Human	0.98872720
88	STAT1_17558387_ChIP-Seq_HELA_Human	0.98821042
89	CJUN_26792858_Chip-Seq_BT549_Human	0.98592097
90	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.98511087
91	CDX2_22108803_ChIP-Seq_LS180_Human	0.97470194
92	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.96338441
93	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.95862418
94	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.95832044
95	CEBPB_22108803_ChIP-Seq_LS180_Human	0.95214022
96	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.94916109
97	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.91728460
98	CBP_20019798_ChIP-Seq_JUKART_Human	0.91728460
99	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.91493488
100	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	0.91441860

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	9.19825503
2	MP0003136_yellow_coat_color	8.05449102
3	MP0005171_absent_coat_pigmentation	7.50437402
4	MP0002653_abnormal_ependyma_morphology	5.76970866
5	MP0003045_fibrosis	4.56936140
6	MP0003890_abnormal_embryonic-extraembry	4.54562448
7	MP0003646_muscle_fatigue	4.02596976
8	MP0000569_abnormal_digit_pigmentation	3.55776845
9	MP0003879_abnormal_hair_cell	3.22350973
10	MP0004381_abnormal_hair_follicle	3.16910919
11	MP0005670_abnormal_white_adipose	2.54652294
12	MP0002138_abnormal_hepatobiliary_system	2.47519273
13	MP0005075_abnormal_melanosome_morpholog	2.32146704
14	MP0003705_abnormal_hypodermis_morpholog	2.21541401
15	MP0005085_abnormal_gallbladder_physiolo	2.12294887
16	MP0000749_muscle_degeneration	2.09560680
17	MP0002168_other_aberrant_phenotype	1.90664371
18	MP0002938_white_spotting	1.81354360
19	MP0004147_increased_porphyrin_level	1.80628274
20	MP0010352_gastrointestinal_tract_polyps	1.62063630
21	MP0005365_abnormal_bile_salt	1.54488918
22	MP0002095_abnormal_skin_pigmentation	1.42495728
23	MP0003195_calcinosis	1.37507740
24	MP0002075_abnormal_coat/hair_pigmentati	1.33389665
25	MP0004233_abnormal_muscle_weight	1.32597524
26	MP0005174_abnormal_tail_pigmentation	1.13111346
27	MP0005395_other_phenotype	1.12345972
28	MP0006054_spinal_hemorrhage	1.08702287
29	MP0002160_abnormal_reproductive_system	1.07683906
30	MP0003137_abnormal_impulse_conducting	0.95851190
31	MP0002269_muscular_atrophy	0.94011724
32	MP0001186_pigmentation_phenotype	0.91518705
33	MP0000427_abnormal_hair_cycle	0.91370076
34	MP0002735_abnormal_chemical_nociception	0.90012628
35	MP0005330_cardiomyopathy	0.89468840
36	MP0002254_reproductive_system_inflammat	0.85799845
37	MP0004043_abnormal_pH_regulation	0.84703307
38	MP0001501_abnormal_sleep_pattern	0.81977033
39	MP0001661_extended_life_span	0.81119732
40	MP0003252_abnormal_bile_duct	0.78341869
41	MP0005076_abnormal_cell_differentiation	0.75625392
42	MP0000015_abnormal_ear_pigmentation	0.74363981
43	MP0001324_abnormal_eye_pigmentation	0.69945320
44	MP0003300_gastrointestinal_ulcer	0.69212801
45	MP0008770_decreased_survivor_rate	0.66799672
46	MP0003950_abnormal_plasma_membrane	0.65568407
47	MP0000534_abnormal_ureter_morphology	0.64701643
48	MP0001984_abnormal_olfaction	0.62698331
49	MP0002396_abnormal_hematopoietic_system	0.61828106
50	MP0002332_abnormal_exercise_endurance	0.61498425
51	MP0005319_abnormal_enzyme/_coenzyme	0.56871469
52	MP0002876_abnormal_thyroid_physiology	0.56132973
53	MP0001486_abnormal_startle_reflex	0.55970849
54	MP0008569_lethality_at_weaning	0.54045214
55	MP0002971_abnormal_brown_adipose	0.53938087
56	MP0002272_abnormal_nervous_system	0.52751648
57	MP0009115_abnormal_fat_cell	0.51417008
58	MP0004130_abnormal_muscle_cell	0.46084625
59	MP0005389_reproductive_system_phenotype	0.44529316
60	MP0005551_abnormal_eye_electrophysiolog	0.44152609
61	MP0009764_decreased_sensitivity_to	0.42298355
62	MP0002638_abnormal_pupillary_reflex	0.42210762
63	MP0001970_abnormal_pain_threshold	0.41935006
64	MP0003937_abnormal_limbs/digits/tail_de	0.40595127
65	MP0003763_abnormal_thymus_physiology	0.39147050
66	MP0002928_abnormal_bile_duct	0.38685759
67	MP0010307_abnormal_tumor_latency	0.36876100
68	MP0005377_hearing/vestibular/ear_phenot	0.36456264
69	MP0003878_abnormal_ear_physiology	0.36456264
70	MP0002751_abnormal_autonomic_nervous	0.36247461
71	MP0009745_abnormal_behavioral_response	0.36004987
72	MP0000377_abnormal_hair_follicle	0.35640893
73	MP0003632_abnormal_nervous_system	0.33503488
74	MP0002229_neurodegeneration	0.33160963
75	MP0002733_abnormal_thermal_nociception	0.32887732
76	MP0002064_seizures	0.29702250
77	MP0009046_muscle_twitch	0.29149894
78	MP0005410_abnormal_fertilization	0.28215772
79	MP0003959_abnormal_lean_body	0.28183729
80	MP0005266_abnormal_metabolism	0.27430415
81	MP0001800_abnormal_humoral_immune	0.27083497
82	MP0008874_decreased_physiological_sensi	0.26951145
83	MP0004142_abnormal_muscle_tone	0.25670263
84	MP0003385_abnormal_body_wall	0.25652386
85	MP0002106_abnormal_muscle_physiology	0.25238655
86	MP0000383_abnormal_hair_follicle	0.24418385
87	MP0002572_abnormal_emotion/affect_behav	0.23524061
88	MP0000470_abnormal_stomach_morphology	0.23475259
89	MP0000367_abnormal_coat/_hair	0.22907263
90	MP0005253_abnormal_eye_physiology	0.22859740
91	MP0002277_abnormal_respiratory_mucosa	0.22137491
92	MP0005448_abnormal_energy_balance	0.21498613
93	MP0005387_immune_system_phenotype	0.20593241
94	MP0001790_abnormal_immune_system	0.20593241
95	MP0008872_abnormal_physiological_respon	0.18091183
96	MP0000432_abnormal_head_morphology	0.17745712
97	MP0004484_altered_response_of	0.17582406
98	MP0003183_abnormal_peptide_metabolism	0.16350014
99	MP0002083_premature_death	0.15491150
100	MP0008875_abnormal_xenobiotic_pharmacok	0.15423324

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Focal motor seizures (HP:0011153)	9.57817564
2	Acanthocytosis (HP:0001927)	7.97528649
3	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	7.53484038
4	Parakeratosis (HP:0001036)	7.02481821
5	Aplastic anemia (HP:0001915)	6.15733417
6	Dialeptic seizures (HP:0011146)	5.16739683
7	Proximal amyotrophy (HP:0007126)	4.83257302
8	Vertebral arch anomaly (HP:0008438)	4.48059435
9	Rectal prolapse (HP:0002035)	4.41338319
10	Hematochezia (HP:0002573)	4.37683304
11	Spontaneous hematomas (HP:0007420)	4.31578835
12	Focal seizures (HP:0007359)	4.25530801
13	Congenital ichthyosiform erythroderma (HP:0007431)	4.19678272
14	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.17177729
15	Colon cancer (HP:0003003)	4.17135144
16	Conjunctival telangiectasia (HP:0000524)	4.12429745
17	Scapular winging (HP:0003691)	4.01627085
18	Aplasia/Hypoplasia of the uvula (HP:0010293)	4.00525705
19	Difficulty walking (HP:0002355)	3.77792353
20	Erythroderma (HP:0001019)	3.53834637
21	Pancreatic cysts (HP:0001737)	3.47527191
22	Poikilocytosis (HP:0004447)	3.42697761
23	Abnormality of the vasculature of the conjunctiva (HP:0008054)	3.31276057
24	Ulnar bowing (HP:0003031)	3.29706777
25	Broad ribs (HP:0000885)	3.26465568
26	Esophageal varix (HP:0002040)	3.23891022
27	Ulnar claw (HP:0001178)	3.19561741
28	Bilateral sensorineural hearing impairment (HP:0008619)	3.19282196
29	Facial shape deformation (HP:0011334)	3.16243930
30	Potter facies (HP:0002009)	3.16243930
31	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.10112352
32	Overlapping toe (HP:0001845)	3.09333643
33	Radial bowing (HP:0002986)	3.07794347
34	IgM deficiency (HP:0002850)	2.84892317
35	Enlarged kidneys (HP:0000105)	2.82734187
36	Synostosis of carpal bones (HP:0005048)	2.81347396
37	Pendular nystagmus (HP:0012043)	2.65192088
38	Hypoplastic iliac wings (HP:0002866)	2.64182082
39	Peripheral hypomyelination (HP:0007182)	2.61714967
40	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.60212255
41	Abnormality of the renal cortex (HP:0011035)	2.59195355
42	Petechiae (HP:0000967)	2.58752397
43	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.51371616
44	Abnormality of the shoulder girdle musculature (HP:0001435)	2.50120570
45	Autoimmune hemolytic anemia (HP:0001890)	2.49922811
46	Progressive inability to walk (HP:0002505)	2.46568284
47	Abnormality of the vocal cords (HP:0008777)	2.44094915
48	Portal hypertension (HP:0001409)	2.36443727
49	Gangrene (HP:0100758)	2.33990820
50	Severe visual impairment (HP:0001141)	2.33183804
51	Albinism (HP:0001022)	2.31247233
52	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.30281829
53	Chronic diarrhea (HP:0002028)	2.27966387
54	Decreased circulating renin level (HP:0003351)	2.27102923
55	Colitis (HP:0002583)	2.25789603
56	Tarsal synostosis (HP:0008368)	2.21403300
57	Lack of skin elasticity (HP:0100679)	2.19514003
58	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.14180892
59	Abnormality of the hepatic vasculature (HP:0006707)	2.13643869
60	Opisthotonus (HP:0002179)	2.12838873
61	Hypokalemia (HP:0002900)	2.10814669
62	Cerebellar dysplasia (HP:0007033)	2.10463856
63	Abnormality of the renal medulla (HP:0100957)	2.10440943
64	Abnormality of macular pigmentation (HP:0008002)	2.10265966
65	Thickened calvaria (HP:0002684)	2.09588206
66	Type I transferrin isoform profile (HP:0003642)	2.07973024
67	Dehydration (HP:0001944)	2.07240961
68	Synostosis involving bones of the feet (HP:0009140)	2.03766485
69	Synostosis involving bones of the lower limbs (HP:0009138)	2.03766485
70	Amelogenesis imperfecta (HP:0000705)	10.1736640
71	Abnormal albumin level (HP:0012116)	1.99725602
72	Hypoalbuminemia (HP:0003073)	1.99725602
73	Abnormality of the fingertips (HP:0001211)	1.99428293
74	Chromsome breakage (HP:0040012)	1.98702424
75	Tubulointerstitial fibrosis (HP:0005576)	1.98239658
76	Abnormality of potassium homeostasis (HP:0011042)	1.95131025
77	Visceral angiomatosis (HP:0100761)	1.90344082
78	Hemangiomatosis (HP:0007461)	1.90062768
79	IgA deficiency (HP:0002720)	1.89582906
80	Neoplasm of the small intestine (HP:0100833)	1.88180491
81	Recurrent sinusitis (HP:0011108)	1.85694327
82	Inability to walk (HP:0002540)	1.85022272
83	Stomach cancer (HP:0012126)	1.84119112
84	Bowed forearm bones (HP:0003956)	1.83981072
85	Bowing of the arm (HP:0006488)	1.83981072
86	Gastrointestinal stroma tumor (HP:0100723)	1.80589244
87	Retinitis pigmentosa (HP:0000510)	1.79672740
88	Tubular atrophy (HP:0000092)	1.78455421
89	Deformed sella turcica (HP:0002681)	1.77303788
90	Increased cerebral lipofuscin (HP:0011813)	1.76711213
91	Aortic valve stenosis (HP:0001650)	1.75290645
92	Carpal synostosis (HP:0009702)	1.74992851
93	Onion bulb formation (HP:0003383)	1.74262755
94	Asymmetric septal hypertrophy (HP:0001670)	1.73040103
95	Palmoplantar keratoderma (HP:0000982)	1.70042079
96	Cystic liver disease (HP:0006706)	1.68687557
97	Purpura (HP:0000979)	1.68485496
98	Right ventricular cardiomyopathy (HP:0011663)	1.67373543
99	Pancytopenia (HP:0001876)	1.67015191
100	Ulnar deviation of finger (HP:0009465)	1.64519543

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK38L	7.42234921
2	LATS2	6.81500218
3	PRKD3	2.86107495
4	STK38	2.84011270
5	ZAK	2.78052866
6	ACVR1B	2.72686132
7	NLK	2.45738018
8	FRK	2.39754521
9	MAP2K2	2.16113949
10	STK3	2.12931910
11	MELK	2.01276046
12	LATS1	10.8277373
13	BMPR1B	1.77196054
14	PINK1	1.15938855
15	MAP3K2	1.09965829
16	PIK3CG	1.09292051
17	PRKAA2	1.04049498
18	NEK2	1.02663941
19	PDPK1	0.99486112
20	IRAK3	0.96603449
21	KSR2	0.94861859
22	TAF1	0.94287518
23	TGFBR1	0.83358640
24	GRK7	0.80764593
25	EIF2AK3	0.70466155
26	CSNK1A1L	0.69170095
27	TGFBR2	0.67774854
28	PRKD1	0.60411681
29	NEK9	0.49969388
30	ADRBK1	0.49792999
31	MOS	0.49077955
32	DAPK2	0.46236849
33	TTK	0.45187410
34	PIM1	0.44000207
35	ADRBK2	0.42769465
36	MAP2K1	0.36753906
37	STK11	0.35315161
38	TNK2	0.34205888
39	GRK5	0.33567786
40	NME1	0.32536637
41	TAOK3	0.31209224
42	MAP4K2	0.29769659
43	AKT3	0.28158672
44	STK10	0.27177766
45	MKNK2	0.27012658
46	PRKCI	0.23328379
47	TIE1	0.22457587
48	CSNK1D	0.20181202
49	CHEK2	0.18201718
50	NEK6	0.17340483
51	TEC	0.16569879
52	WNK4	0.15530616
53	PLK1	0.13847234
54	TXK	0.11865019
55	MAPK3	0.11560444
56	FER	0.11460705
57	ABL1	0.11077601
58	GRK1	0.10866691
59	ITK	0.10558306
60	EEF2K	0.08321183
61	MAPK1	0.06132765
62	CDK3	0.05938606
63	MAPK7	0.05650183
64	MARK3	0.05184691
65	STK24	0.05022810
66	PTK2B	0.04990153
67	AKT2	0.03929822
68	MAPKAPK3	0.03473868
69	PRKACA	0.03121282
70	JAK2	0.02957167
71	MAP3K1	0.02836027
72	MAP3K7	0.02030361
73	OXSR1	0.01627847
74	MAPK8	0.01166113
75	PRKCE	0.00824040
76	PRKACB	0.00544348
77	NEK1	-0.0815422
78	PRKCG	-0.0799006
79	CAMK1D	-0.0725965
80	PRKG2	-0.0696031
81	CDK4	-0.0687542
82	BTK	-0.0665627
83	PDGFRA	-0.0660339
84	AKT1	-0.0538200
85	ATR	-0.0495494
86	PRKCZ	-0.0450845
87	CSNK1A1	-0.0423587
88	MAP3K8	-0.0412066
89	GSK3B	-0.0390418
90	PIM2	-0.0332272
91	TRPM7	-0.0316097
92	PDK2	-0.0249970
93	CDK5	-0.0216832
94	CAMK2A	-0.0185771
95	CAMK2B	-0.0165558
96	PRKCH	-0.0157536
97	PDK1	-0.0115063
98	STK39	-0.0060398
99	EIF2AK2	-0.0040075
100	RET	-0.0037850

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	8.58579043
2	Phototransduction_Homo sapiens_hsa04744	4.37189402
3	Sphingolipid metabolism_Homo sapiens_hsa00600	3.95670269
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.76725766
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.21745926
6	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.90874941
7	Nicotine addiction_Homo sapiens_hsa05033	2.67661839
8	Taste transduction_Homo sapiens_hsa04742	2.11956977
9	N-Glycan biosynthesis_Homo sapiens_hsa00510	2.05884370
10	Phenylalanine metabolism_Homo sapiens_hsa00360	1.99715027
11	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.90391029
12	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.86116948
13	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.75626297
14	Histidine metabolism_Homo sapiens_hsa00340	1.74771468
15	Morphine addiction_Homo sapiens_hsa05032	1.64321180
16	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.58443750
17	One carbon pool by folate_Homo sapiens_hsa00670	1.54570111
18	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.31486353
19	Tryptophan metabolism_Homo sapiens_hsa00380	1.31055941
20	GABAergic synapse_Homo sapiens_hsa04727	1.24017417
21	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.22694134
22	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.18761437
23	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.17879675
24	Calcium signaling pathway_Homo sapiens_hsa04020	1.15384775
25	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.12064536
26	ABC transporters_Homo sapiens_hsa02010	1.10282919
27	Sphingolipid signaling pathway_Homo sapiens_hsa04071	1.08085148
28	Viral myocarditis_Homo sapiens_hsa05416	1.08049158
29	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.05881498
30	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.03633261
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.99646543
32	Glycerolipid metabolism_Homo sapiens_hsa00561	0.97217363
33	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.93391260
34	VEGF signaling pathway_Homo sapiens_hsa04370	0.90798267
35	beta-Alanine metabolism_Homo sapiens_hsa00410	0.83818954
36	Lysine degradation_Homo sapiens_hsa00310	0.82711446
37	Nitrogen metabolism_Homo sapiens_hsa00910	0.80023206
38	Tyrosine metabolism_Homo sapiens_hsa00350	0.77658981
39	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.76817561
40	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.76197911
41	Glutamatergic synapse_Homo sapiens_hsa04724	0.75580634
42	Bile secretion_Homo sapiens_hsa04976	0.73364365
43	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.72114831
44	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.71233105
45	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.70279303
46	Adherens junction_Homo sapiens_hsa04520	0.66619224
47	ECM-receptor interaction_Homo sapiens_hsa04512	0.63165199
48	Colorectal cancer_Homo sapiens_hsa05210	0.63006731
49	Serotonergic synapse_Homo sapiens_hsa04726	0.62934037
50	Butanoate metabolism_Homo sapiens_hsa00650	0.61932774
51	cAMP signaling pathway_Homo sapiens_hsa04024	0.61928933
52	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.61271519
53	Pyruvate metabolism_Homo sapiens_hsa00620	0.57554252
54	Basal transcription factors_Homo sapiens_hsa03022	0.56122856
55	Fatty acid degradation_Homo sapiens_hsa00071	0.55315278
56	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.54621159
57	Hippo signaling pathway_Homo sapiens_hsa04390	0.54187187
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.47319803
59	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.47203445
60	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.44617200
61	Thyroid cancer_Homo sapiens_hsa05216	0.44613479
62	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.44156757
63	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.41795462
64	Olfactory transduction_Homo sapiens_hsa04740	0.40587694
65	Basal cell carcinoma_Homo sapiens_hsa05217	0.39977542
66	Pancreatic cancer_Homo sapiens_hsa05212	0.39717008
67	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.36979297
68	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.36316809
69	Salivary secretion_Homo sapiens_hsa04970	0.35015927
70	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.34967739
71	Arginine and proline metabolism_Homo sapiens_hsa00330	0.34338568
72	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.31955763
73	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.31822538
74	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.31697937
75	Tuberculosis_Homo sapiens_hsa05152	0.31277982
76	Cell cycle_Homo sapiens_hsa04110	0.30027290
77	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.28432950
78	Collecting duct acid secretion_Homo sapiens_hsa04966	0.25813678
79	Homologous recombination_Homo sapiens_hsa03440	0.22361527
80	Estrogen signaling pathway_Homo sapiens_hsa04915	0.21609543
81	Melanogenesis_Homo sapiens_hsa04916	0.21606388
82	African trypanosomiasis_Homo sapiens_hsa05143	0.21601052
83	Retinol metabolism_Homo sapiens_hsa00830	0.20122637
84	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.18929592
85	Fanconi anemia pathway_Homo sapiens_hsa03460	0.18228923
86	Selenocompound metabolism_Homo sapiens_hsa00450	0.17846634
87	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.17478672
88	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.16313331
89	Gastric acid secretion_Homo sapiens_hsa04971	0.16218849
90	Insulin secretion_Homo sapiens_hsa04911	0.16066490
91	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.15796772
92	Oocyte meiosis_Homo sapiens_hsa04114	0.15289219
93	Chemical carcinogenesis_Homo sapiens_hsa05204	0.15235052
94	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.14869548
95	Type II diabetes mellitus_Homo sapiens_hsa04930	0.14459357
96	Cholinergic synapse_Homo sapiens_hsa04725	0.12288693
97	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.11080570
98	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.10732372
99	Circadian entrainment_Homo sapiens_hsa04713	0.09792179
100	Metabolic pathways_Homo sapiens_hsa01100	0.08721014

CDC42EP3P1

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)

Most similar genes based on co-expression Upload to Enrichr

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