ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to vitamin A (GO:0033189)	9.86790940
2	cellular response to epidermal growth factor stimulus (GO:0071364)	8.41375023
3	O-glycan processing (GO:0016266)	8.15460959
4	regulation of ARF GTPase activity (GO:0032312)	6.59197931
5	response to epidermal growth factor (GO:0070849)	6.44809374
6	C21-steroid hormone biosynthetic process (GO:0006700)	6.40030768
7	nephron epithelium morphogenesis (GO:0072088)	6.39755110
8	nephron tubule morphogenesis (GO:0072078)	6.39755110
9	establishment of protein localization to Golgi (GO:0072600)	5.90885974
10	protein targeting to Golgi (GO:0000042)	5.87709213
11	retrograde transport, vesicle recycling within Golgi (GO:0000301)	5.49725743
12	protein O-linked glycosylation (GO:0006493)	5.49206888
13	negative regulation of digestive system process (GO:0060457)	5.35597773
14	trivalent inorganic anion homeostasis (GO:0072506)	5.24974015
15	phosphate ion homeostasis (GO:0055062)	5.24974015
16	renal tubule morphogenesis (GO:0061333)	4.98846562
17	fucose catabolic process (GO:0019317)	4.86679180
18	L-fucose metabolic process (GO:0042354)	4.86679180
19	L-fucose catabolic process (GO:0042355)	4.86679180
20	glucocorticoid biosynthetic process (GO:0006704)	4.81487836
21	cellular response to glucocorticoid stimulus (GO:0071385)	4.78411846
22	regulation of acrosome reaction (GO:0060046)	4.56929696
23	cellular anion homeostasis (GO:0030002)	4.55583173
24	protein localization to Golgi apparatus (GO:0034067)	4.53152427
25	cellular response to corticosteroid stimulus (GO:0071384)	4.43988020
26	digestive system process (GO:0022600)	4.36197357
27	membrane depolarization during action potential (GO:0086010)	4.33162125
28	auditory receptor cell stereocilium organization (GO:0060088)	4.29261684
29	renal absorption (GO:0070293)	4.22280361
30	Arp2/3 complex-mediated actin nucleation (GO:0034314)	4.19081938
31	vocalization behavior (GO:0071625)	4.05618088
32	actin filament capping (GO:0051693)	4.00620256
33	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	3.99374827
34	actin nucleation (GO:0045010)	3.97096934
35	fucosylation (GO:0036065)	3.95451113
36	striated muscle atrophy (GO:0014891)	3.85318329
37	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.78547778
38	phosphate ion transmembrane transport (GO:0035435)	3.77098369
39	regulation of RIG-I signaling pathway (GO:0039535)	3.74740290
40	creatine metabolic process (GO:0006600)	3.70028820
41	muscle atrophy (GO:0014889)	3.61893830
42	skeletal muscle adaptation (GO:0043501)	3.54430485
43	phosphate ion transport (GO:0006817)	3.46735477
44	negative regulation of actin filament depolymerization (GO:0030835)	3.45721495
45	myoblast fusion (GO:0007520)	3.37767159
46	extracellular fibril organization (GO:0043206)	3.31572390
47	photoreceptor cell maintenance (GO:0045494)	3.29992087
48	cilium or flagellum-dependent cell motility (GO:0001539)	3.22726603
49	cellular response to retinoic acid (GO:0071300)	3.18945711
50	membrane repolarization during cardiac muscle cell action potential (GO:0086013)	3.18849474
51	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.18425960
52	inner ear receptor stereocilium organization (GO:0060122)	3.16707281
53	dendritic spine morphogenesis (GO:0060997)	3.12597915
54	ketone biosynthetic process (GO:0042181)	3.10914237
55	dendritic spine organization (GO:0097061)	3.05261365
56	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	3.04508692
57	fibril organization (GO:0097435)	3.03945360
58	collecting duct development (GO:0072044)	3.02968702
59	GDP-mannose metabolic process (GO:0019673)	3.02907444
60	calcium ion import (GO:0070509)	3.02835276
61	neuronal action potential (GO:0019228)	3.01377673
62	establishment of skin barrier (GO:0061436)	2.99687382
63	syncytium formation by plasma membrane fusion (GO:0000768)	2.95933287
64	inner ear receptor cell differentiation (GO:0060113)	2.94966317
65	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.92082326
66	C21-steroid hormone metabolic process (GO:0008207)	2.90149374
67	regulation of podosome assembly (GO:0071801)	2.87870391
68	cardiovascular system development (GO:0072358)	2.85386830
69	intestinal cholesterol absorption (GO:0030299)	2.84655569
70	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	2.84567644
71	negative regulation of actin filament polymerization (GO:0030837)	2.82965947
72	growth hormone secretion (GO:0030252)	2.82513540
73	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.76375449
74	syncytium formation (GO:0006949)	2.74772406
75	hair cell differentiation (GO:0035315)	2.74287473
76	membrane repolarization during action potential (GO:0086011)	2.73431097
77	epithelial cell fate commitment (GO:0072148)	2.72583512
78	macroautophagy (GO:0016236)	2.68868953
79	regulation of cholesterol homeostasis (GO:2000188)	2.64325835
80	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.61937198
81	anatomical structure regression (GO:0060033)	2.61199295
82	urogenital system development (GO:0001655)	2.59973527
83	regulation of actin filament depolymerization (GO:0030834)	2.59790883
84	multicellular organism reproduction (GO:0032504)	2.58060706
85	glucocorticoid metabolic process (GO:0008211)	2.57391010
86	regulation of water loss via skin (GO:0033561)	2.56410001
87	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	2.54963539
88	inositol metabolic process (GO:0006020)	2.53806268
89	regulation of digestive system process (GO:0044058)	2.53320613
90	detection of mechanical stimulus (GO:0050982)	2.53073020
91	termination of G-protein coupled receptor signaling pathway (GO:0038032)	2.48350651
92	positive regulation of digestive system process (GO:0060456)	2.48305050
93	brain morphogenesis (GO:0048854)	2.43550566
94	glomerular basement membrane development (GO:0032836)	2.42639864
95	positive regulation of CREB transcription factor activity (GO:0032793)	2.39686609
96	auditory receptor cell differentiation (GO:0042491)	2.38490111
97	calcium ion transmembrane transport (GO:0070588)	2.36585248
98	regulation of G0 to G1 transition (GO:0070316)	15.3399813
99	maintenance of gastrointestinal epithelium (GO:0030277)	15.2070935
100	epithelial structure maintenance (GO:0010669)	11.0262487

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	6.45543260
2	DROSHA_22980978_ChIP-Seq_HELA_Human	4.61325405
3	EZH2_22144423_ChIP-Seq_EOC_Human	4.35405834
4	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.28053403
5	VDR_22108803_ChIP-Seq_LS180_Human	3.24263297
6	GBX2_23144817_ChIP-Seq_PC3_Human	3.18756050
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.17201572
8	WDR5_24793694_ChIP-Seq_LNCAP_Human	2.73166050
9	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.34186169
10	CDX2_20551321_ChIP-Seq_CACO-2_Human	2.03482506
11	IKZF1_21737484_ChIP-ChIP_HCT116_Human	2.01388352
12	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.99217935
13	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.98637827
14	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.95598468
15	BCAT_22108803_ChIP-Seq_LS180_Human	1.89885004
16	ER_23166858_ChIP-Seq_MCF-7_Human	1.87039461
17	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.74188391
18	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.68312549
19	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.66486531
20	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.65580371
21	SMC4_20622854_ChIP-Seq_HELA_Human	1.54295176
22	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.46499399
23	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.45028740
24	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.42876511
25	OCT4_20526341_ChIP-Seq_ESCs_Human	1.41224869
26	NFYA_21822215_ChIP-Seq_K562_Human	1.39921236
27	CTCF_27219007_Chip-Seq_Bcells_Human	1.39505427
28	AR_21572438_ChIP-Seq_LNCaP_Human	1.38532800
29	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.37403590
30	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.37308994
31	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.34478863
32	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.32251243
33	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.30114505
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.29785611
35	CDX2_22108803_ChIP-Seq_LS180_Human	1.26812671
36	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.24452333
37	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.23621302
38	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.21810821
39	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.21686580
40	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.20322767
41	BCL6_27268052_Chip-Seq_Bcells_Human	1.20059602
42	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.16581990
43	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.15801238
44	CTCF_20526341_ChIP-Seq_ESCs_Human	1.15794659
45	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.14679604
46	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.14647104
47	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.13372314
48	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.13143532
49	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.11922653
50	TBL1_22424771_ChIP-Seq_293T_Human	1.11496494
51	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.11170210
52	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.11077655
53	KLF5_25053715_ChIP-Seq_YYC3_Human	1.10966951
54	* E2F1_20622854_ChIP-Seq_HELA_Human	1.10555477
55	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.09017293
56	AR_25329375_ChIP-Seq_VCAP_Human	1.07982339
57	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.07946928
58	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.07194542
59	TCF4_23295773_ChIP-Seq_U87_Human	1.06726040
60	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.06716226
61	TP53_22573176_ChIP-Seq_HFKS_Human	1.06012084
62	STAT3_23295773_ChIP-Seq_U87_Human	1.05933045
63	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.04625370
64	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.04098772
65	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.02663846
66	AHR_22903824_ChIP-Seq_MCF-7_Human	1.01884552
67	CBP_20019798_ChIP-Seq_JUKART_Human	1.01465115
68	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01465115
69	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.00228727
70	SPI1_23127762_ChIP-Seq_K562_Human	0.99982868
71	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.99417138
72	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.99368680
73	IRF8_22096565_ChIP-ChIP_GC-B_Human	0.97969441
74	NFYB_21822215_ChIP-Seq_K562_Human	0.97042435
75	RUNX2_22187159_ChIP-Seq_PCA_Human	0.96934141
76	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.96543694
77	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.96091975
78	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	0.95950227
79	TCF4_22108803_ChIP-Seq_LS180_Human	0.95682037
80	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.95603626
81	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.95603626
82	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.94850723
83	TP63_22573176_ChIP-Seq_HFKS_Human	0.94071298
84	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.93407539
85	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.92411636
86	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.91512666
87	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	0.90458988
88	AR_20517297_ChIP-Seq_VCAP_Human	0.89945093
89	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.89482890
90	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.89372760
91	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	0.89094048
92	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.88934457
93	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.88345609
94	BCOR_27268052_Chip-Seq_Bcells_Human	0.88320590
95	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.88000084
96	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.88000084
97	P68_20966046_ChIP-Seq_HELA_Human	0.87782617
98	AR_19668381_ChIP-Seq_PC3_Human	0.87645527
99	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.87410763
100	TAF2_19829295_ChIP-Seq_ESCs_Human	0.86562841

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000465_gastrointestinal_hemorrhage	5.58753072
2	MP0000579_abnormal_nail_morphology	4.93701505
3	MP0004043_abnormal_pH_regulation	4.67325058
4	MP0003879_abnormal_hair_cell	4.60143873
5	MP0000566_synostosis	4.35523787
6	MP0005377_hearing/vestibular/ear_phenot	3.40079615
7	MP0003878_abnormal_ear_physiology	3.40079615
8	MP0003866_abnormal_defecation	3.29454122
9	MP0005275_abnormal_skin_tensile	3.27779529
10	MP0001485_abnormal_pinna_reflex	3.11968570
11	MP0002822_catalepsy	3.08964765
12	MP0001666_abnormal_nutrient_absorption	2.88838140
13	MP0008438_abnormal_cutaneous_collagen	2.64282496
14	MP0003705_abnormal_hypodermis_morpholog	2.45784068
15	MP0003252_abnormal_bile_duct	2.17846298
16	MP0001765_abnormal_ion_homeostasis	2.14457686
17	MP0002102_abnormal_ear_morphology	2.14086409
18	MP0008004_abnormal_stomach_pH	2.10206973
19	MP0001664_abnormal_digestion	1.87667950
20	MP0008995_early_reproductive_senescence	1.82858802
21	MP0002138_abnormal_hepatobiliary_system	1.80482133
22	MP0001661_extended_life_span	1.80038891
23	MP0005551_abnormal_eye_electrophysiolog	1.71196072
24	MP0001963_abnormal_hearing_physiology	1.59667159
25	MP0002060_abnormal_skin_morphology	1.57954917
26	MP0000026_abnormal_inner_ear	1.57474773
27	MP0004742_abnormal_vestibular_system	1.54616309
28	MP0005257_abnormal_intraocular_pressure	1.53806268
29	MP0002098_abnormal_vibrissa_morphology	1.52407130
30	MP0003091_abnormal_cell_migration	1.50623414
31	MP0000751_myopathy	1.43146425
32	MP0000427_abnormal_hair_cycle	1.42708176
33	MP0001663_abnormal_digestive_system	1.41589355
34	MP0005381_digestive/alimentary_phenotyp	1.35983644
35	MP0004019_abnormal_vitamin_homeostasis	1.33496042
36	MP0003646_muscle_fatigue	1.31351182
37	MP0000647_abnormal_sebaceous_gland	1.31002707
38	MP0001243_abnormal_dermal_layer	1.30579600
39	MP0005083_abnormal_biliary_tract	1.28767253
40	MP0000749_muscle_degeneration	1.26882724
41	MP0002735_abnormal_chemical_nociception	1.25730571
42	MP0000383_abnormal_hair_follicle	1.24582695
43	MP0010155_abnormal_intestine_physiology	1.23567607
44	MP0010386_abnormal_urinary_bladder	1.15941255
45	MP0003195_calcinosis	1.13091990
46	MP0010234_abnormal_vibrissa_follicle	1.11908541
47	MP0002928_abnormal_bile_duct	1.09989308
48	MP0003279_aneurysm	1.09691936
49	MP0003045_fibrosis	1.09560475
50	MP0000538_abnormal_urinary_bladder	1.07266653
51	MP0002229_neurodegeneration	1.05730890
52	MP0010678_abnormal_skin_adnexa	1.01689824
53	MP0002272_abnormal_nervous_system	0.99814627
54	MP0002896_abnormal_bone_mineralization	0.94329223
55	MP0002733_abnormal_thermal_nociception	0.93522580
56	MP0002269_muscular_atrophy	0.90089832
57	MP0004145_abnormal_muscle_electrophysio	0.89940229
58	MP0001542_abnormal_bone_strength	0.88645740
59	MP0001986_abnormal_taste_sensitivity	0.87780213
60	MP0009046_muscle_twitch	0.81619826
61	MP0005187_abnormal_penis_morphology	0.80643675
62	MP0010771_integument_phenotype	0.80487874
63	MP0003950_abnormal_plasma_membrane	0.79661269
64	MP0002067_abnormal_sensory_capabilities	0.79314668
65	MP0001968_abnormal_touch/_nociception	0.78495227
66	MP0005410_abnormal_fertilization	0.78359366
67	MP0004036_abnormal_muscle_relaxation	0.78218257
68	MP0000462_abnormal_digestive_system	0.77475944
69	MP0005503_abnormal_tendon_morphology	0.75570614
70	MP0001486_abnormal_startle_reflex	0.72718815
71	MP0010030_abnormal_orbit_morphology	0.72460601
72	MP0003283_abnormal_digestive_organ	0.71054339
73	MP0002736_abnormal_nociception_after	0.68710876
74	MP0003763_abnormal_thymus_physiology	0.68421711
75	MP0004147_increased_porphyrin_level	0.66326357
76	MP0000747_muscle_weakness	0.66230423
77	MP0001970_abnormal_pain_threshold	0.65627957
78	MP0002249_abnormal_larynx_morphology	0.65619015
79	MP0003786_premature_aging	0.65040308
80	MP0002160_abnormal_reproductive_system	0.64996897
81	MP0005253_abnormal_eye_physiology	0.63560600
82	MP0002136_abnormal_kidney_physiology	0.62268060
83	MP0002752_abnormal_somatic_nervous	0.61895281
84	MP0001324_abnormal_eye_pigmentation	0.61185337
85	MP0002127_abnormal_cardiovascular_syste	0.61065939
86	MP0002210_abnormal_sex_determination	0.60707552
87	MP0004924_abnormal_behavior	0.60663461
88	MP0005386_behavior/neurological_phenoty	0.60663461
89	MP0005670_abnormal_white_adipose	0.59478522
90	MP0001756_abnormal_urination	0.58500446
91	MP0005636_abnormal_mineral_homeostasis	0.58334587
92	MP0001270_distended_abdomen	0.57577530
93	MP0004272_abnormal_basement_membrane	0.56809625
94	MP0002332_abnormal_exercise_endurance	0.56168424
95	MP0000477_abnormal_intestine_morphology	0.55992897
96	MP0002095_abnormal_skin_pigmentation	0.53808647
97	MP0005645_abnormal_hypothalamus_physiol	0.53721277
98	MP0000230_abnormal_systemic_arterial	0.53399672
99	MP0005076_abnormal_cell_differentiation	0.49107463
100	MP0005508_abnormal_skeleton_morphology	0.47588733

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Palpebral edema (HP:0100540)	6.50600170
2	Pili torti (HP:0003777)	6.24986466
3	Congenital sensorineural hearing impairment (HP:0008527)	5.25546661
4	Mask-like facies (HP:0000298)	5.23581060
5	Thin bony cortex (HP:0002753)	5.18854903
6	Enlarged epiphyses (HP:0010580)	5.06452641
7	Hyperkalemia (HP:0002153)	4.79840171
8	Hypophosphatemic rickets (HP:0004912)	4.59385701
9	Bilateral sensorineural hearing impairment (HP:0008619)	4.56822010
10	Abnormality of dentin (HP:0010299)	4.51939542
11	Duplicated collecting system (HP:0000081)	4.08042897
12	Abnormal hair laboratory examination (HP:0003328)	4.00306868
13	Tibial bowing (HP:0002982)	3.94220797
14	Hemorrhage of the eye (HP:0011885)	3.87686252
15	Delayed epiphyseal ossification (HP:0002663)	3.82130520
16	Abnormality of chloride homeostasis (HP:0011422)	3.80091005
17	Distal lower limb amyotrophy (HP:0008944)	3.70189990
18	Abnormality of the renal collecting system (HP:0004742)	3.56207707
19	Ureteral duplication (HP:0000073)	3.33273576
20	Urethral obstruction (HP:0000796)	3.33096033
21	Chromosomal breakage induced by crosslinking agents (HP:0003221)	3.26882687
22	Abnormal trabecular bone morphology (HP:0100671)	3.11355247
23	Malnutrition (HP:0004395)	3.09843244
24	Cerebral aneurysm (HP:0004944)	3.01957394
25	Periorbital edema (HP:0100539)	2.94531307
26	Abnormality of the distal phalanges of the toes (HP:0010182)	2.88880519
27	Abnormality of pyrimidine metabolism (HP:0004353)	2.88857713
28	Abnormality of the costochondral junction (HP:0000919)	2.87560379
29	Distal upper limb amyotrophy (HP:0007149)	2.84971222
30	Upper limb amyotrophy (HP:0009129)	2.84971222
31	Mildly elevated creatine phosphokinase (HP:0008180)	2.84231219
32	Facial edema (HP:0000282)	2.81541155
33	Broad face (HP:0000283)	2.78407666
34	Cystic liver disease (HP:0006706)	2.72052735
35	Short nail (HP:0001799)	2.72013662
36	Abnormality of DNA repair (HP:0003254)	2.71864327
37	Patent foramen ovale (HP:0001655)	2.70307223
38	Abnormality of the 1st metacarpal (HP:0010009)	2.70205505
39	Nuclear cataract (HP:0100018)	2.69821701
40	Chromsome breakage (HP:0040012)	2.67239166
41	Fragile skin (HP:0001030)	2.65683467
42	Short 1st metacarpal (HP:0010034)	2.63517738
43	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.63517738
44	Duplication of thumb phalanx (HP:0009942)	2.61922345
45	Widely patent fontanelles and sutures (HP:0004492)	2.59364035
46	Increased connective tissue (HP:0009025)	2.55125157
47	Neonatal short-limb short stature (HP:0008921)	2.50973031
48	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.46682880
49	Axonal loss (HP:0003447)	2.46217348
50	Increased corneal curvature (HP:0100692)	2.44576665
51	Keratoconus (HP:0000563)	2.44576665
52	Spinal muscular atrophy (HP:0007269)	2.42624216
53	Lower limb amyotrophy (HP:0007210)	2.38882047
54	Difficulty walking (HP:0002355)	2.37173785
55	Pulmonary artery stenosis (HP:0004415)	2.35249147
56	Follicular hyperkeratosis (HP:0007502)	2.29380534
57	Absent/shortened dynein arms (HP:0200106)	2.27826590
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.27826590
59	Ectopic kidney (HP:0000086)	2.26557115
60	Atrophic scars (HP:0001075)	2.24857729
61	Natal tooth (HP:0000695)	2.24108852
62	Neonatal respiratory distress (HP:0002643)	2.22980157
63	Bony spicule pigmentary retinopathy (HP:0007737)	2.20718979
64	Abnormality of the carotid arteries (HP:0005344)	2.16749611
65	Hyperactive renin-angiotensin system (HP:0000841)	2.16257389
66	Short phalanx of the thumb (HP:0009660)	2.14845107
67	Milia (HP:0001056)	2.14671706
68	Abnormality of the preputium (HP:0100587)	2.10914604
69	Bronchomalacia (HP:0002780)	2.09776012
70	Abnormality of potassium homeostasis (HP:0011042)	2.08944689
71	Broad metatarsal (HP:0001783)	2.06888355
72	Tongue fasciculations (HP:0001308)	2.05043806
73	Premature rupture of membranes (HP:0001788)	2.05029180
74	Femoral bowing (HP:0002980)	2.04103959
75	Hypergonadotropic hypogonadism (HP:0000815)	2.04080566
76	Congenital, generalized hypertrichosis (HP:0004540)	2.03512053
77	Male infertility (HP:0003251)	2.00875159
78	Pigmentary retinal degeneration (HP:0001146)	1.98765596
79	Morphological abnormality of the middle ear (HP:0008609)	1.98743071
80	Depressed nasal tip (HP:0000437)	1.95880840
81	Tubulointerstitial nephritis (HP:0001970)	1.92950450
82	Progressive sensorineural hearing impairment (HP:0000408)	1.88710967
83	Self-mutilation (HP:0000742)	1.88596423
84	Delayed CNS myelination (HP:0002188)	1.88338923
85	Muscle fibrillation (HP:0010546)	1.85124881
86	Spondylolisthesis (HP:0003302)	1.83922233
87	Aortic dissection (HP:0002647)	1.83185120
88	Long eyelashes (HP:0000527)	1.82869837
89	Clubbing of toes (HP:0100760)	1.82291590
90	Difficulty climbing stairs (HP:0003551)	1.81727326
91	Abnormality of the right ventricle (HP:0001707)	1.81688544
92	Flat occiput (HP:0005469)	1.79512083
93	Abnormality of the ileum (HP:0001549)	1.78456678
94	Onion bulb formation (HP:0003383)	1.78213162
95	Metaphyseal irregularity (HP:0003025)	1.74860758
96	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.74752561
97	Congenital stationary night blindness (HP:0007642)	1.73470839
98	Progressive hearing impairment (HP:0001730)	1.72610205
99	Rickets (HP:0002748)	1.71222262
100	Meckel diverticulum (HP:0002245)	1.70116333

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK4	8.41011840
2	MST1R	8.07671492
3	TESK2	5.20563463
4	NME1	5.06150746
5	WNK1	3.27280780
6	MET	3.12736563
7	MAP3K13	2.07006731
8	GRK1	1.81451872
9	FRK	1.81370178
10	LMTK2	1.71908767
11	MUSK	1.66623273
12	BLK	1.63079547
13	STK39	1.61370222
14	ICK	1.57120457
15	CDK12	1.45347126
16	MAP2K6	1.32258970
17	TNIK	1.17907348
18	MAPKAPK3	1.17655598
19	NEK2	1.12823465
20	ACVR1B	1.12454298
21	MAP4K2	1.07368203
22	SIK2	0.97569434
23	MAP3K7	0.97283877
24	ERBB2	0.87490518
25	INSRR	0.85902425
26	DDR2	0.81758228
27	MST4	0.78716612
28	ZAK	0.78263778
29	TEC	0.75700029
30	ITK	0.69799341
31	TXK	0.64011868
32	PIK3CG	0.63587096
33	MAP3K9	0.63151716
34	SIK1	0.60370098
35	OXSR1	0.60173943
36	TRPM7	0.58849600
37	PHKG1	0.56688711
38	PHKG2	0.56688711
39	MARK2	0.55883079
40	CAMK1D	0.53227002
41	SGK1	0.53188344
42	SYK	0.50984020
43	KDR	0.50314503
44	DAPK1	0.45911842
45	PRKCH	0.43288929
46	PDGFRB	0.42729948
47	CAMK1G	0.42220320
48	PAK3	0.41702432
49	CASK	0.41587596
50	PASK	0.39506332
51	MAP3K6	0.36633374
52	NLK	0.34958268
53	BTK	0.33119953
54	NTRK1	0.33053078
55	CAMK2B	0.32606490
56	PRKAA2	0.32053446
57	CDC42BPA	0.29912154
58	IRAK1	0.29733992
59	MTOR	0.28436388
60	BRD4	0.28399205
61	IGF1R	0.26625579
62	LYN	0.25753007
63	FYN	0.25001713
64	PTK2B	0.22389534
65	TRIB3	0.21837689
66	PRKD2	0.21620296
67	MYLK	0.20690619
68	RIPK1	0.20554626
69	FGFR4	0.19774677
70	PRKAA1	0.19711494
71	TNK2	0.19164364
72	CAMK2D	0.18738403
73	ADRBK1	0.18451256
74	CDK9	0.18194794
75	CDK7	0.17859353
76	PRKCQ	0.17500085
77	PIK3CA	0.17422679
78	ADRBK2	0.17000116
79	PRKACA	0.15541361
80	STK16	0.15516065
81	CAMK2G	0.15352029
82	ROCK1	0.14195255
83	PRKCZ	0.13825107
84	ATR	0.13693265
85	PDK1	0.13666562
86	RPS6KA3	0.13072281
87	CCNB1	0.12821130
88	CSF1R	0.12071839
89	PRKCA	0.11223012
90	CAMK1	0.11165116
91	INSR	0.11065037
92	MAPK1	0.10588764
93	SRC	0.10528155
94	EPHA2	0.10377921
95	MAPK11	0.10217527
96	FES	0.10106597
97	CAMK2A	0.09879852
98	HCK	0.09585959
99	CDK8	0.09130735
100	PRKCB	0.08732665

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	4.21525106
2	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	4.14177738
3	Salivary secretion_Homo sapiens_hsa04970	3.51858054
4	ABC transporters_Homo sapiens_hsa02010	3.29275341
5	Oocyte meiosis_Homo sapiens_hsa04114	2.97566207
6	ECM-receptor interaction_Homo sapiens_hsa04512	2.44795289
7	Olfactory transduction_Homo sapiens_hsa04740	2.43375929
8	Phototransduction_Homo sapiens_hsa04744	2.31805635
9	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.22523572
10	Vibrio cholerae infection_Homo sapiens_hsa05110	2.21463153
11	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	2.04056575
12	Protein digestion and absorption_Homo sapiens_hsa04974	1.88934258
13	Circadian entrainment_Homo sapiens_hsa04713	1.85621369
14	Sulfur metabolism_Homo sapiens_hsa00920	1.85603028
15	Amoebiasis_Homo sapiens_hsa05146	1.80022197
16	Taste transduction_Homo sapiens_hsa04742	1.70849394
17	Fanconi anemia pathway_Homo sapiens_hsa03460	1.66234978
18	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.62250764
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.59520486
20	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.55231394
21	Primary immunodeficiency_Homo sapiens_hsa05340	1.48858023
22	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.45806048
23	Insulin secretion_Homo sapiens_hsa04911	1.44590456
24	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.38529080
25	Gastric acid secretion_Homo sapiens_hsa04971	1.34757414
26	Bile secretion_Homo sapiens_hsa04976	1.30814558
27	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.26878132
28	Platelet activation_Homo sapiens_hsa04611	1.25616629
29	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.25351235
30	Arginine and proline metabolism_Homo sapiens_hsa00330	1.22404513
31	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.20078417
32	One carbon pool by folate_Homo sapiens_hsa00670	1.18498397
33	Glycerolipid metabolism_Homo sapiens_hsa00561	1.15870103
34	Linoleic acid metabolism_Homo sapiens_hsa00591	1.14781296
35	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.13220946
36	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.11097819
37	Pancreatic secretion_Homo sapiens_hsa04972	1.10580091
38	Homologous recombination_Homo sapiens_hsa03440	1.09074475
39	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.07837489
40	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.06259646
41	Lysine degradation_Homo sapiens_hsa00310	1.05580381
42	Calcium signaling pathway_Homo sapiens_hsa04020	1.04211641
43	Glutamatergic synapse_Homo sapiens_hsa04724	1.04059036
44	Serotonergic synapse_Homo sapiens_hsa04726	1.01027483
45	Morphine addiction_Homo sapiens_hsa05032	1.00110712
46	Cholinergic synapse_Homo sapiens_hsa04725	0.96330408
47	Nicotine addiction_Homo sapiens_hsa05033	0.94608942
48	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.93062744
49	Renin secretion_Homo sapiens_hsa04924	0.92948946
50	Other glycan degradation_Homo sapiens_hsa00511	0.87186809
51	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.79381156
52	GnRH signaling pathway_Homo sapiens_hsa04912	0.78171364
53	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.77736538
54	cAMP signaling pathway_Homo sapiens_hsa04024	0.75451036
55	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.72246888
56	Arginine biosynthesis_Homo sapiens_hsa00220	0.71977242
57	Mineral absorption_Homo sapiens_hsa04978	0.70985616
58	Purine metabolism_Homo sapiens_hsa00230	0.69971807
59	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.67663951
60	Chemical carcinogenesis_Homo sapiens_hsa05204	0.64637664
61	GABAergic synapse_Homo sapiens_hsa04727	0.64446731
62	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.61652087
63	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.61376527
64	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.60902212
65	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.59435353
66	Long-term depression_Homo sapiens_hsa04730	0.58835200
67	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.55875132
68	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.53728566
69	Ether lipid metabolism_Homo sapiens_hsa00565	0.52576366
70	Cardiac muscle contraction_Homo sapiens_hsa04260	0.52359806
71	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.51365232
72	Galactose metabolism_Homo sapiens_hsa00052	0.51012575
73	Tight junction_Homo sapiens_hsa04530	0.50183048
74	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.49797078
75	Retinol metabolism_Homo sapiens_hsa00830	0.48345889
76	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.47863554
77	Cocaine addiction_Homo sapiens_hsa05030	0.46962072
78	Focal adhesion_Homo sapiens_hsa04510	0.45804294
79	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.45440975
80	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.45439841
81	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.44469920
82	Gap junction_Homo sapiens_hsa04540	0.44416620
83	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.43132589
84	Long-term potentiation_Homo sapiens_hsa04720	0.41203422
85	Type II diabetes mellitus_Homo sapiens_hsa04930	0.40976295
86	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.39388533
87	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.36670412
88	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.36661424
89	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.36265751
90	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.36240371
91	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.35540466
92	Amphetamine addiction_Homo sapiens_hsa05031	0.34795466
93	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.33548763
94	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.32799275
95	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.32526736
96	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.32504886
97	Glutathione metabolism_Homo sapiens_hsa00480	0.30124938
98	Notch signaling pathway_Homo sapiens_hsa04330	0.28338237
99	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.27387933
100	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.25788009

USP17L6P

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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