ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cellular response to epidermal growth factor stimulus (GO:0071364)	9.72560143
2	O-glycan processing (GO:0016266)	8.65995000
3	response to epidermal growth factor (GO:0070849)	7.55367513
4	regulation of ARF GTPase activity (GO:0032312)	7.02027183
5	C21-steroid hormone biosynthetic process (GO:0006700)	6.63303723
6	nephron epithelium morphogenesis (GO:0072088)	6.33217876
7	nephron tubule morphogenesis (GO:0072078)	6.33217876
8	negative regulation of digestive system process (GO:0060457)	5.91243214
9	protein O-linked glycosylation (GO:0006493)	5.90267148
10	trivalent inorganic anion homeostasis (GO:0072506)	5.88843481
11	phosphate ion homeostasis (GO:0055062)	5.88843481
12	cellular response to glucocorticoid stimulus (GO:0071385)	5.77216930
13	glucocorticoid biosynthetic process (GO:0006704)	5.56951265
14	cellular response to corticosteroid stimulus (GO:0071384)	5.33995722
15	cellular anion homeostasis (GO:0030002)	5.14114624
16	phosphate ion transmembrane transport (GO:0035435)	5.10381049
17	protein targeting to Golgi (GO:0000042)	4.99542105
18	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	4.98011232
19	establishment of protein localization to Golgi (GO:0072600)	4.91900573
20	renal tubule morphogenesis (GO:0061333)	4.81438677
21	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.74484906
22	digestive system process (GO:0022600)	4.56905182
23	L-fucose catabolic process (GO:0042355)	4.51282376
24	fucose catabolic process (GO:0019317)	4.51282376
25	L-fucose metabolic process (GO:0042354)	4.51282376
26	phosphate ion transport (GO:0006817)	4.48302308
27	regulation of acrosome reaction (GO:0060046)	4.45630122
28	membrane depolarization during action potential (GO:0086010)	4.41977096
29	creatine metabolic process (GO:0006600)	4.27528883
30	actin filament capping (GO:0051693)	4.25610250
31	striated muscle atrophy (GO:0014891)	4.24669479
32	renal absorption (GO:0070293)	4.15230893
33	mesenchymal cell differentiation involved in kidney development (GO:0072161)	4.04870253
34	mesenchymal cell differentiation involved in renal system development (GO:2001012)	4.04870253
35	calcium ion import (GO:0070509)	4.03715616
36	protein localization to Golgi apparatus (GO:0034067)	3.98871673
37	rRNA catabolic process (GO:0016075)	3.96192283
38	membrane repolarization during cardiac muscle cell action potential (GO:0086013)	3.95820035
39	skeletal muscle adaptation (GO:0043501)	3.91804370
40	sperm capacitation (GO:0048240)	3.83455419
41	fucosylation (GO:0036065)	3.80326188
42	myoblast fusion (GO:0007520)	3.80137002
43	vocalization behavior (GO:0071625)	3.66765034
44	muscle atrophy (GO:0014889)	3.64576967
45	cellular response to retinoic acid (GO:0071300)	3.62382669
46	negative regulation of actin filament depolymerization (GO:0030835)	3.62127549
47	regulation of RIG-I signaling pathway (GO:0039535)	3.52041499
48	membrane repolarization during action potential (GO:0086011)	3.46705584
49	syncytium formation by plasma membrane fusion (GO:0000768)	3.42970238
50	auditory receptor cell stereocilium organization (GO:0060088)	3.35585049
51	positive regulation of sodium ion transmembrane transport (GO:1902307)	3.30052505
52	Arp2/3 complex-mediated actin nucleation (GO:0034314)	3.28593716
53	regulation of cholesterol homeostasis (GO:2000188)	3.27362600
54	establishment of skin barrier (GO:0061436)	3.20015261
55	dendritic spine morphogenesis (GO:0060997)	3.19670753
56	growth hormone secretion (GO:0030252)	3.17135690
57	C21-steroid hormone metabolic process (GO:0008207)	3.13836811
58	multicellular organism reproduction (GO:0032504)	3.13258060
59	histone H3-K36 demethylation (GO:0070544)	3.11737690
60	epithelial cell fate commitment (GO:0072148)	3.10595595
61	dendritic spine organization (GO:0097061)	3.06331598
62	collecting duct development (GO:0072044)	3.04676075
63	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.02606292
64	multicellular organismal water homeostasis (GO:0050891)	2.96218575
65	inner ear receptor cell differentiation (GO:0060113)	2.96130607
66	syncytium formation (GO:0006949)	2.95807946
67	actin nucleation (GO:0045010)	2.94805900
68	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	2.93612537
69	hair cell differentiation (GO:0035315)	2.92223052
70	protein-chromophore linkage (GO:0018298)	2.91834746
71	bone trabecula formation (GO:0060346)	2.89323838
72	regulation of water loss via skin (GO:0033561)	2.88666006
73	embryonic retina morphogenesis in camera-type eye (GO:0060059)	2.87432288
74	striated muscle adaptation (GO:0014888)	2.84930551
75	ketone biosynthetic process (GO:0042181)	2.83735141
76	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	2.83139275
77	glucocorticoid metabolic process (GO:0008211)	2.82534490
78	osteoblast development (GO:0002076)	2.78004934
79	GDP-mannose metabolic process (GO:0019673)	2.74404061
80	glomerular basement membrane development (GO:0032836)	2.73367520
81	cilium or flagellum-dependent cell motility (GO:0001539)	2.70825606
82	inositol metabolic process (GO:0006020)	2.69408492
83	extracellular fibril organization (GO:0043206)	2.68702627
84	actin filament depolymerization (GO:0030042)	2.65549866
85	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.63181474
86	phosphatidylglycerol biosynthetic process (GO:0006655)	2.63129534
87	regulation of digestive system process (GO:0044058)	2.61953634
88	urogenital system development (GO:0001655)	2.61470674
89	cGMP-mediated signaling (GO:0019934)	2.61244363
90	lung epithelium development (GO:0060428)	2.59595200
91	regulation of actin filament depolymerization (GO:0030834)	2.59045590
92	histone H3-K9 demethylation (GO:0033169)	2.57475822
93	anatomical structure regression (GO:0060033)	2.55864553
94	water homeostasis (GO:0030104)	2.54084926
95	photoreceptor cell maintenance (GO:0045494)	2.51531318
96	histone lysine demethylation (GO:0070076)	2.46756410
97	regulation of G0 to G1 transition (GO:0070316)	17.2620073
98	maintenance of gastrointestinal epithelium (GO:0030277)	16.1327087
99	epithelial structure maintenance (GO:0010669)	11.9753497
100	response to vitamin A (GO:0033189)	11.5189665

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	7.56393333
2	DROSHA_22980978_ChIP-Seq_HELA_Human	5.31430368
3	EZH2_22144423_ChIP-Seq_EOC_Human	2.84514221
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.83517589
5	WDR5_24793694_ChIP-Seq_LNCAP_Human	2.65783613
6	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	2.65234477
7	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	2.49478505
8	CDX2_20551321_ChIP-Seq_CACO-2_Human	2.49440547
9	SMC4_20622854_ChIP-Seq_HELA_Human	2.35652567
10	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.30958662
11	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.28806336
12	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.20116592
13	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.19052483
14	CTCF_27219007_Chip-Seq_Bcells_Human	2.11782779
15	GBX2_23144817_ChIP-Seq_PC3_Human	2.06900643
16	E2F1_20622854_ChIP-Seq_HELA_Human	1.96388931
17	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.93957267
18	BCL6_27268052_Chip-Seq_Bcells_Human	1.90984099
19	P68_20966046_ChIP-Seq_HELA_Human	1.83733221
20	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.77166607
21	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.69332332
22	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.68093745
23	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.68057337
24	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.67382433
25	CTCF_20526341_ChIP-Seq_ESCs_Human	1.63790176
26	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.63251338
27	RACK7_27058665_Chip-Seq_MCF-7_Human	1.57712706
28	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.56620183
29	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.56371173
30	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.55284569
31	BCOR_27268052_Chip-Seq_Bcells_Human	1.50698584
32	LXR_22292898_ChIP-Seq_THP-1_Human	1.46909897
33	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.46097567
34	NFYA_21822215_ChIP-Seq_K562_Human	1.45743277
35	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.44776640
36	KLF5_25053715_ChIP-Seq_YYC3_Human	1.43965862
37	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.39488072
38	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.39163087
39	OCT4_20526341_ChIP-Seq_ESCs_Human	1.37448588
40	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.34437690
41	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.34038387
42	SA1_27219007_Chip-Seq_Bcells_Human	1.32532849
43	OCT4_19829295_ChIP-Seq_ESCs_Human	1.32379571
44	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.30749385
45	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.30643198
46	AR_21572438_ChIP-Seq_LNCaP_Human	1.29958219
47	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.29825397
48	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.29042050
49	TP63_22573176_ChIP-Seq_HFKS_Human	1.27094428
50	BCAT_22108803_ChIP-Seq_LS180_Human	1.26763676
51	ER_23166858_ChIP-Seq_MCF-7_Human	1.26298423
52	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.24894963
53	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	1.24685545
54	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.24581268
55	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.21479828
56	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.20700133
57	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.20463118
58	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.20011245
59	PHF8_20622854_ChIP-Seq_HELA_Human	1.18971468
60	MYC_19915707_ChIP-ChIP_AK7_Human	1.17745009
61	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.16849091
62	ERA_21632823_ChIP-Seq_H3396_Human	1.15670276
63	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.15227605
64	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	1.13793393
65	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.13428561
66	GATA6_25053715_ChIP-Seq_YYC3_Human	1.12387132
67	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.11750832
68	AHR_22903824_ChIP-Seq_MCF-7_Human	1.11227441
69	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.09431687
70	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.08936819
71	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.08075741
72	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.07338737
73	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.06165031
74	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.05966669
75	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.05381732
76	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.04416381
77	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.04359657
78	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.04359657
79	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.04332440
80	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.00862097
81	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.00674199
82	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.99919346
83	P63_26484246_Chip-Seq_KERATINOCYTES_Human	0.98683632
84	KDM2B_26808549_Chip-Seq_SUP-B15_Human	0.97970257
85	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.97262627
86	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.97219458
87	TBL1_22424771_ChIP-Seq_293T_Human	0.96644833
88	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.96449345
89	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.96167979
90	E2F7_22180533_ChIP-Seq_HELA_Human	0.94918771
91	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.94112003
92	NFYB_21822215_ChIP-Seq_K562_Human	0.93887504
93	EGR1_19032775_ChIP-ChIP_M12_Human	0.93746531
94	CDX2_22108803_ChIP-Seq_LS180_Human	0.93576321
95	TAF2_19829295_ChIP-Seq_ESCs_Human	0.93078095
96	KLF4_19829295_ChIP-Seq_ESCs_Human	0.92588009
97	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.92213202
98	RAC3_21632823_ChIP-Seq_H3396_Human	0.92209017
99	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.90567252
100	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.89786101

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000465_gastrointestinal_hemorrhage	6.01137173
2	MP0004043_abnormal_pH_regulation	5.53925044
3	MP0000579_abnormal_nail_morphology	5.34916537
4	MP0003879_abnormal_hair_cell	4.33928875
5	MP0003705_abnormal_hypodermis_morpholog	4.20110419
6	MP0000566_synostosis	3.57417245
7	MP0002822_catalepsy	3.49030426
8	MP0005377_hearing/vestibular/ear_phenot	3.18210352
9	MP0003878_abnormal_ear_physiology	3.18210352
10	MP0003866_abnormal_defecation	2.97223315
11	MP0005275_abnormal_skin_tensile	2.80324665
12	MP0001666_abnormal_nutrient_absorption	2.79360015
13	MP0001661_extended_life_span	2.76920766
14	MP0008438_abnormal_cutaneous_collagen	2.48169870
15	MP0001485_abnormal_pinna_reflex	2.43438171
16	MP0001765_abnormal_ion_homeostasis	2.32787919
17	MP0001664_abnormal_digestion	2.16166794
18	MP0004019_abnormal_vitamin_homeostasis	1.89997692
19	MP0004742_abnormal_vestibular_system	1.87538951
20	MP0000749_muscle_degeneration	1.86566056
21	MP0000751_myopathy	1.83804628
22	MP0002638_abnormal_pupillary_reflex	1.82732642
23	MP0003091_abnormal_cell_migration	1.81730693
24	MP0001663_abnormal_digestive_system	1.79831606
25	MP0002138_abnormal_hepatobiliary_system	1.70102139
26	MP0002060_abnormal_skin_morphology	1.65864008
27	MP0003252_abnormal_bile_duct	1.61378950
28	MP0010234_abnormal_vibrissa_follicle	1.61327472
29	MP0000383_abnormal_hair_follicle	1.60962145
30	MP0001243_abnormal_dermal_layer	1.57884383
31	MP0003045_fibrosis	1.57284067
32	MP0005381_digestive/alimentary_phenotyp	1.56489817
33	MP0005083_abnormal_biliary_tract	1.54179597
34	MP0003950_abnormal_plasma_membrane	1.51484437
35	MP0008995_early_reproductive_senescence	1.51209753
36	MP0008004_abnormal_stomach_pH	1.47759438
37	MP0003195_calcinosis	1.46736900
38	MP0000427_abnormal_hair_cycle	1.46221640
39	MP0000538_abnormal_urinary_bladder	1.39278394
40	MP0005257_abnormal_intraocular_pressure	1.38883882
41	MP0010678_abnormal_skin_adnexa	1.38217387
42	MP0001963_abnormal_hearing_physiology	1.32799041
43	MP0002098_abnormal_vibrissa_morphology	1.27540643
44	MP0000026_abnormal_inner_ear	1.24596224
45	MP0003279_aneurysm	1.20592441
46	MP0010386_abnormal_urinary_bladder	1.18869174
47	MP0001542_abnormal_bone_strength	1.17945439
48	MP0002249_abnormal_larynx_morphology	1.14646497
49	MP0002269_muscular_atrophy	1.14222361
50	MP0010155_abnormal_intestine_physiology	1.13286818
51	MP0002896_abnormal_bone_mineralization	1.13157398
52	MP0000647_abnormal_sebaceous_gland	1.12425196
53	MP0010030_abnormal_orbit_morphology	1.08240634
54	MP0003786_premature_aging	1.06853018
55	MP0001502_abnormal_circadian_rhythm	1.06541013
56	MP0005551_abnormal_eye_electrophysiolog	0.94959135
57	MP0003183_abnormal_peptide_metabolism	0.94615214
58	MP0000747_muscle_weakness	0.93371046
59	MP0004145_abnormal_muscle_electrophysio	0.90467262
60	MP0001958_emphysema	0.90352147
61	MP0002735_abnormal_chemical_nociception	0.85653205
62	MP0002928_abnormal_bile_duct	0.82602454
63	MP0002127_abnormal_cardiovascular_syste	0.77641224
64	MP0010771_integument_phenotype	0.76993928
65	MP0002229_neurodegeneration	0.76594950
66	MP0003283_abnormal_digestive_organ	0.76295115
67	MP0004036_abnormal_muscle_relaxation	0.70655430
68	MP0002136_abnormal_kidney_physiology	0.68387650
69	MP0003172_abnormal_lysosome_physiology	0.67440559
70	MP0005501_abnormal_skin_physiology	0.66602961
71	MP0008057_abnormal_DNA_replication	0.65465474
72	MP0001849_ear_inflammation	0.64590986
73	MP0005360_urolithiasis	0.63299847
74	MP0005508_abnormal_skeleton_morphology	0.61829196
75	MP0000477_abnormal_intestine_morphology	0.61105065
76	MP0005636_abnormal_mineral_homeostasis	0.60114197
77	MP0001764_abnormal_homeostasis	0.58612008
78	MP0001270_distended_abdomen	0.57503613
79	MP0001873_stomach_inflammation	0.57367419
80	MP0000470_abnormal_stomach_morphology	0.56519482
81	MP0009840_abnormal_foam_cell	0.56107917
82	MP0001348_abnormal_lacrimal_gland	0.55391405
83	MP0002733_abnormal_thermal_nociception	0.55334751
84	MP0002168_other_aberrant_phenotype	0.53450969
85	MP0001324_abnormal_eye_pigmentation	0.53098100
86	MP0004264_abnormal_extraembryonic_tissu	0.52853337
87	MP0000371_diluted_coat_color	0.52711554
88	MP0002796_impaired_skin_barrier	0.51067626
89	MP0000432_abnormal_head_morphology	0.50633840
90	MP0000762_abnormal_tongue_morphology	0.50085333
91	MP0002139_abnormal_hepatobiliary_system	0.50058729
92	MP0000230_abnormal_systemic_arterial	0.49566998
93	MP0003111_abnormal_nucleus_morphology	0.49535662
94	MP0005220_abnormal_exocrine_pancreas	0.49320160
95	MP0003943_abnormal_hepatobiliary_system	0.48833047
96	MP0003646_muscle_fatigue	0.47051418
97	MP0009384_cardiac_valve_regurgitation	0.46780413
98	MP0002752_abnormal_somatic_nervous	0.45720110
99	MP0002075_abnormal_coat/hair_pigmentati	0.44682866
100	MP0009643_abnormal_urine_homeostasis	0.43639741

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pili torti (HP:0003777)	6.45545830
2	Abnormality of dentin (HP:0010299)	6.29509242
3	Bilateral sensorineural hearing impairment (HP:0008619)	6.23469916
4	Palpebral edema (HP:0100540)	5.96351119
5	Thin bony cortex (HP:0002753)	5.31612723
6	Mask-like facies (HP:0000298)	5.00937662
7	Enlarged epiphyses (HP:0010580)	4.75354095
8	Congenital sensorineural hearing impairment (HP:0008527)	4.44046512
9	Hyperkalemia (HP:0002153)	4.39060552
10	Hypophosphatemic rickets (HP:0004912)	4.34492696
11	Abnormal hair laboratory examination (HP:0003328)	4.29326052
12	Delayed epiphyseal ossification (HP:0002663)	4.13371162
13	Hemorrhage of the eye (HP:0011885)	4.03589802
14	Distal lower limb amyotrophy (HP:0008944)	3.79955662
15	Tibial bowing (HP:0002982)	3.79749949
16	Abnormality of chloride homeostasis (HP:0011422)	3.67745174
17	Distal upper limb amyotrophy (HP:0007149)	3.66183815
18	Upper limb amyotrophy (HP:0009129)	3.66183815
19	Cerebral aneurysm (HP:0004944)	3.46632874
20	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.44039360
21	Duplicated collecting system (HP:0000081)	3.35210858
22	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	3.30448488
23	Short 1st metacarpal (HP:0010034)	3.30448488
24	Short nail (HP:0001799)	3.23797025
25	Malnutrition (HP:0004395)	3.22707824
26	Widely patent fontanelles and sutures (HP:0004492)	3.19723672
27	Abnormal trabecular bone morphology (HP:0100671)	3.17161589
28	Abnormality of the 1st metacarpal (HP:0010009)	3.15504216
29	Broad face (HP:0000283)	3.15329550
30	Ureteral duplication (HP:0000073)	3.14291343
31	Nuclear cataract (HP:0100018)	3.10930498
32	Abnormality of the costochondral junction (HP:0000919)	3.10397112
33	Patent foramen ovale (HP:0001655)	3.03939520
34	Natal tooth (HP:0000695)	2.99906777
35	Urethral obstruction (HP:0000796)	2.98774810
36	Abnormality of the distal phalanges of the toes (HP:0010182)	2.97657809
37	Mildly elevated creatine phosphokinase (HP:0008180)	2.97498224
38	Chromsome breakage (HP:0040012)	2.92813877
39	Abnormality of the renal collecting system (HP:0004742)	2.90959077
40	Periorbital edema (HP:0100539)	2.81067388
41	Fragile skin (HP:0001030)	2.80913708
42	Abnormality of pyrimidine metabolism (HP:0004353)	2.80631922
43	Abnormality of the dental pulp (HP:0006479)	2.78514501
44	Abnormality of DNA repair (HP:0003254)	2.77065431
45	Facial edema (HP:0000282)	2.70359235
46	Hyperactive renin-angiotensin system (HP:0000841)	2.70213892
47	Tracheomalacia (HP:0002779)	2.63701307
48	Lower limb amyotrophy (HP:0007210)	2.63399691
49	Follicular hyperkeratosis (HP:0007502)	2.59831016
50	Decreased circulating renin level (HP:0003351)	2.56889218
51	Spinal muscular atrophy (HP:0007269)	2.51568899
52	Short phalanx of the thumb (HP:0009660)	2.43518814
53	Cystic liver disease (HP:0006706)	2.41380293
54	Increased connective tissue (HP:0009025)	2.38708014
55	Duplication of thumb phalanx (HP:0009942)	2.36544989
56	Ectopic kidney (HP:0000086)	2.34027072
57	Bony spicule pigmentary retinopathy (HP:0007737)	2.32084621
58	Atrophic scars (HP:0001075)	2.29909809
59	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.29709906
60	Broad metatarsal (HP:0001783)	2.22005484
61	Metaphyseal irregularity (HP:0003025)	2.21514269
62	Neonatal short-limb short stature (HP:0008921)	2.15020737
63	Difficulty climbing stairs (HP:0003551)	2.14825802
64	Hand muscle atrophy (HP:0009130)	2.12491166
65	Wide cranial sutures (HP:0010537)	2.11592036
66	Aneurysm (HP:0002617)	2.10980654
67	Abnormality of renin-angiotensin system (HP:0000847)	2.10589239
68	Hyperacusis (HP:0010780)	2.09943517
69	Milia (HP:0001056)	2.08647737
70	Femoral bowing (HP:0002980)	2.08644070
71	Premature rupture of membranes (HP:0001788)	2.06297136
72	Abnormality of the carotid arteries (HP:0005344)	2.00956936
73	Pendular nystagmus (HP:0012043)	2.00878573
74	Self-mutilation (HP:0000742)	1.98437015
75	Premature skin wrinkling (HP:0100678)	1.97428176
76	Axonal loss (HP:0003447)	1.94189650
77	Severe visual impairment (HP:0001141)	1.93444987
78	Abnormality of potassium homeostasis (HP:0011042)	1.91887007
79	Bronchomalacia (HP:0002780)	1.89986981
80	Stridor (HP:0010307)	1.88769703
81	Abnormality of cochlea (HP:0000375)	1.87482716
82	Keratoconus (HP:0000563)	1.87256102
83	Increased corneal curvature (HP:0100692)	1.87256102
84	Morphological abnormality of the middle ear (HP:0008609)	1.86874223
85	Abnormality of the fibula (HP:0002991)	1.86121313
86	Male infertility (HP:0003251)	1.85428507
87	Congenital, generalized hypertrichosis (HP:0004540)	1.84902927
88	Abnormality of the preputium (HP:0100587)	1.84751968
89	Abnormality of the ileum (HP:0001549)	1.81260271
90	Fibular aplasia (HP:0002990)	1.81113203
91	Reticulocytopenia (HP:0001896)	1.79691936
92	Rickets (HP:0002748)	1.78853283
93	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	1.78401464
94	Meckel diverticulum (HP:0002245)	1.77995658
95	Flat acetabular roof (HP:0003180)	1.77598164
96	Attenuation of retinal blood vessels (HP:0007843)	1.77151296
97	Pulmonary artery stenosis (HP:0004415)	1.76463391
98	Wide anterior fontanel (HP:0000260)	1.74944549
99	Delayed CNS myelination (HP:0002188)	1.72678515
100	Asymmetry of the thorax (HP:0001555)	1.71941880

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK4	8.96300064
2	MST1R	8.96035166
3	NME1	6.17730410
4	WNK1	3.60013920
5	MET	3.30370516
6	CDK12	2.02251763
7	MUSK	1.92537851
8	NEK2	1.75861494
9	MAP2K6	1.70510068
10	INSRR	1.52123168
11	SIK2	1.47210387
12	SIK1	1.44874999
13	ERN1	1.39970682
14	DDR2	1.36679140
15	PRKG2	1.33993843
16	LMTK2	1.32220794
17	MAP3K13	1.22408204
18	MAP4K2	1.21358089
19	SMG1	1.18182379
20	TRIB3	1.10980056
21	ICK	1.09937650
22	STK39	1.06216931
23	BLK	0.94910437
24	MAP3K9	0.91050892
25	MAP3K7	0.75996701
26	MELK	0.74834063
27	ERBB2	0.74173847
28	MAP3K6	0.67962109
29	ZAK	0.65487997
30	VRK2	0.65196429
31	FGFR4	0.64199136
32	MARK2	0.60493600
33	PRKCH	0.59654375
34	PHKG2	0.55528181
35	PHKG1	0.55528181
36	OXSR1	0.53809042
37	PASK	0.51653656
38	SIK3	0.51182425
39	CDK9	0.49370630
40	NTRK1	0.49177683
41	CAMK1D	0.48188169
42	PRKAA1	0.46243555
43	BRD4	0.45630164
44	MAP2K2	0.44688786
45	PRKAA2	0.43067731
46	SGK1	0.40880955
47	CDC42BPA	0.40718502
48	TESK2	0.40315799
49	MTOR	0.39041482
50	TRPM7	0.38763661
51	EPHA2	0.38318772
52	RIPK1	0.37022543
53	ACVR1B	0.36750566
54	TNK2	0.35879521
55	PRKD2	0.35576579
56	TAOK2	0.35057295
57	TAOK1	0.28829574
58	HIPK2	0.28202506
59	CAMK1G	0.26520099
60	PDK1	0.25213758
61	MAPKAPK5	0.25058381
62	PKN2	0.24675144
63	PDGFRB	0.24580201
64	RET	0.22322596
65	ATR	0.22150788
66	FGFR2	0.22033305
67	PDPK1	0.20662006
68	MAPK11	0.19465386
69	RPS6KA2	0.18329593
70	TNIK	0.17462861
71	CAMKK1	0.17084996
72	AKT1	0.16600513
73	CDK8	0.16574080
74	BRAF	0.15678485
75	TIE1	0.15050591
76	RPS6KA6	0.14715573
77	MAPK1	0.13475107
78	RPS6KL1	0.13472758
79	RPS6KC1	0.13472758
80	MKNK1	0.13418947
81	CHEK1	0.13247758
82	IGF1R	0.12377295
83	HCK	0.11984258
84	KIT	0.11655524
85	PIK3CA	0.10149038
86	CAMK2B	0.10087561
87	PIK3CG	0.10009777
88	PRKCI	0.07907408
89	MAPK3	0.07748176
90	FES	0.07024337
91	RPS6KA3	0.06923169
92	CDK7	0.06922058
93	PRKCZ	0.06920407
94	CAMK2D	0.06377920
95	LCK	0.06323287
96	PTK2B	0.05999889
97	PRKDC	0.05929343
98	CHEK2	0.05832741
99	ITK	0.05233941
100	PRKCG	0.05029316

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	4.22982120
2	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	4.01154325
3	Salivary secretion_Homo sapiens_hsa04970	3.80279273
4	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	3.06715283
5	Oocyte meiosis_Homo sapiens_hsa04114	2.99256048
6	ABC transporters_Homo sapiens_hsa02010	2.89110464
7	Fructose and mannose metabolism_Homo sapiens_hsa00051	2.70668593
8	Vibrio cholerae infection_Homo sapiens_hsa05110	2.67225510
9	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	2.40889898
10	Protein digestion and absorption_Homo sapiens_hsa04974	2.11790256
11	Olfactory transduction_Homo sapiens_hsa04740	2.10769651
12	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.08936806
13	ECM-receptor interaction_Homo sapiens_hsa04512	2.01246394
14	Circadian entrainment_Homo sapiens_hsa04713	1.96262241
15	Amoebiasis_Homo sapiens_hsa05146	1.93808511
16	Fanconi anemia pathway_Homo sapiens_hsa03460	1.86809972
17	Insulin secretion_Homo sapiens_hsa04911	1.57684531
18	Arginine and proline metabolism_Homo sapiens_hsa00330	1.56244937
19	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.54803686
20	Taste transduction_Homo sapiens_hsa04742	1.52155293
21	Bile secretion_Homo sapiens_hsa04976	1.42394973
22	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.37034374
23	Other glycan degradation_Homo sapiens_hsa00511	1.35330388
24	Notch signaling pathway_Homo sapiens_hsa04330	1.29259670
25	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.28660961
26	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.26966488
27	Gastric acid secretion_Homo sapiens_hsa04971	1.26638974
28	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.21996993
29	Arginine biosynthesis_Homo sapiens_hsa00220	1.19820524
30	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.18584393
31	Cholinergic synapse_Homo sapiens_hsa04725	1.14176901
32	Glycerolipid metabolism_Homo sapiens_hsa00561	1.13726136
33	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.09149696
34	Lysine degradation_Homo sapiens_hsa00310	1.07143977
35	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.06975480
36	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.03187040
37	Pancreatic secretion_Homo sapiens_hsa04972	1.00834728
38	GnRH signaling pathway_Homo sapiens_hsa04912	1.00774753
39	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.96459727
40	Galactose metabolism_Homo sapiens_hsa00052	0.90626821
41	Calcium signaling pathway_Homo sapiens_hsa04020	0.90113251
42	Nitrogen metabolism_Homo sapiens_hsa00910	0.88407672
43	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.87901530
44	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.85671969
45	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.84723774
46	cAMP signaling pathway_Homo sapiens_hsa04024	0.84537385
47	Linoleic acid metabolism_Homo sapiens_hsa00591	0.84101965
48	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.84093793
49	Glutamatergic synapse_Homo sapiens_hsa04724	0.83446597
50	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.83414111
51	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.77091251
52	Glucagon signaling pathway_Homo sapiens_hsa04922	0.74364488
53	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.72541573
54	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.71847732
55	Serotonergic synapse_Homo sapiens_hsa04726	0.70027198
56	Retinol metabolism_Homo sapiens_hsa00830	0.68402745
57	Phototransduction_Homo sapiens_hsa04744	0.67666893
58	Morphine addiction_Homo sapiens_hsa05032	0.67370789
59	Type II diabetes mellitus_Homo sapiens_hsa04930	0.65285394
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64544637
61	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.64324154
62	Long-term depression_Homo sapiens_hsa04730	0.61795314
63	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.61476432
64	Chemical carcinogenesis_Homo sapiens_hsa05204	0.58031277
65	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.57405455
66	Renin secretion_Homo sapiens_hsa04924	0.56224051
67	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.53805186
68	Mineral absorption_Homo sapiens_hsa04978	0.53649357
69	GABAergic synapse_Homo sapiens_hsa04727	0.53269628
70	Platelet activation_Homo sapiens_hsa04611	0.52063524
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.51751396
72	Focal adhesion_Homo sapiens_hsa04510	0.51707562
73	Amphetamine addiction_Homo sapiens_hsa05031	0.50405493
74	One carbon pool by folate_Homo sapiens_hsa00670	0.50127942
75	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.46130133
76	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.45356215
77	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.44381381
78	Choline metabolism in cancer_Homo sapiens_hsa05231	0.42892263
79	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.40366267
80	Cocaine addiction_Homo sapiens_hsa05030	0.40311206
81	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.40055343
82	Gap junction_Homo sapiens_hsa04540	0.39880699
83	Small cell lung cancer_Homo sapiens_hsa05222	0.39743139
84	Primary immunodeficiency_Homo sapiens_hsa05340	0.39192821
85	Tight junction_Homo sapiens_hsa04530	0.38941594
86	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.38071869
87	Insulin resistance_Homo sapiens_hsa04931	0.37623873
88	Caffeine metabolism_Homo sapiens_hsa00232	0.37216347
89	Ether lipid metabolism_Homo sapiens_hsa00565	0.37197784
90	Homologous recombination_Homo sapiens_hsa03440	0.35023361
91	African trypanosomiasis_Homo sapiens_hsa05143	0.34781050
92	Estrogen signaling pathway_Homo sapiens_hsa04915	0.34271210
93	Long-term potentiation_Homo sapiens_hsa04720	0.32669570
94	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.32306625
95	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.31525371
96	Melanogenesis_Homo sapiens_hsa04916	0.28726540
97	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.28661196
98	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.27150628
99	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.25502356
100	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.24740615

USP17L20

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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