ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of leukocyte chemotaxis (GO:0002689)	5.20478661
2	membrane raft organization (GO:0031579)	4.89234514
3	peptidyl-proline hydroxylation (GO:0019511)	4.68528332
4	response to nitrosative stress (GO:0051409)	4.42347901
5	protein hydroxylation (GO:0018126)	4.16621229
6	xenobiotic catabolic process (GO:0042178)	4.08284445
7	proteasome assembly (GO:0043248)	4.06624061
8	protein heterotrimerization (GO:0070208)	3.95430514
9	regulation of macrophage chemotaxis (GO:0010758)	3.90305720
10	regulation of integrin-mediated signaling pathway (GO:2001044)	3.88814345
11	mesenchymal-epithelial cell signaling (GO:0060638)	3.80953497
12	response to redox state (GO:0051775)	3.78299602
13	triglyceride catabolic process (GO:0019433)	3.68182932
14	kidney mesenchyme development (GO:0072074)	3.68130537
15	cellular response to vitamin (GO:0071295)	3.67122500
16	collagen fibril organization (GO:0030199)	3.66379886
17	low-density lipoprotein particle clearance (GO:0034383)	3.60647161
18	cell migration involved in heart development (GO:0060973)	3.58609872
19	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	3.53315515
20	extracellular fibril organization (GO:0043206)	3.50210765
21	protein localization to cell surface (GO:0034394)	3.45831033
22	endodermal cell differentiation (GO:0035987)	3.42499610
23	metanephric mesenchyme development (GO:0072075)	3.40962765
24	retina vasculature morphogenesis in camera-type eye (GO:0061299)	3.39324762
25	blood vessel maturation (GO:0001955)	3.38945217
26	positive regulation of endothelial cell apoptotic process (GO:2000353)	3.23921786
27	regulation of extracellular matrix disassembly (GO:0010715)	3.23292016
28	regulation of metalloenzyme activity (GO:0048552)	3.23225138
29	protein retention in ER lumen (GO:0006621)	3.21196862
30	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	3.16414030
31	keratan sulfate catabolic process (GO:0042340)	3.16314653
32	lipid particle organization (GO:0034389)	3.16199038
33	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.08373209
34	neutral lipid catabolic process (GO:0046461)	3.07236887
35	acylglycerol catabolic process (GO:0046464)	3.07236887
36	positive regulation of cell junction assembly (GO:1901890)	3.06048385
37	positive regulation of focal adhesion assembly (GO:0051894)	3.06048385
38	negative regulation of metanephros development (GO:0072217)	3.05301000
39	CDP-diacylglycerol biosynthetic process (GO:0016024)	3.05299087
40	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.03548715
41	retinol metabolic process (GO:0042572)	3.01324392
42	negative regulation of establishment of protein localization to plasma membrane (GO:0090005)	2.99380105
43	positive regulation of osteoblast proliferation (GO:0033690)	2.99337401
44	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	2.97370867
45	type B pancreatic cell proliferation (GO:0044342)	2.95452424
46	negative regulation of endothelial cell proliferation (GO:0001937)	2.93502999
47	retinal metabolic process (GO:0042574)	2.92260438
48	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	2.88961431
49	negative regulation of protein localization to plasma membrane (GO:1903077)	2.87618682
50	response to hyperoxia (GO:0055093)	2.86265899
51	response to increased oxygen levels (GO:0036296)	2.86265899
52	regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)	2.84039526
53	fatty acid elongation (GO:0030497)	2.84017158
54	negative regulation of nitric-oxide synthase activity (GO:0051001)	2.83101971
55	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)	2.82182791
56	metanephric tubule development (GO:0072170)	2.80623592
57	metanephric nephron tubule development (GO:0072234)	2.80623592
58	hyaluronan catabolic process (GO:0030214)	2.79382858
59	substrate adhesion-dependent cell spreading (GO:0034446)	2.79351092
60	positive regulation of adherens junction organization (GO:1903393)	2.77448675
61	regulation of sequestering of triglyceride (GO:0010889)	2.75081342
62	fatty acid homeostasis (GO:0055089)	2.74159842
63	fibril organization (GO:0097435)	2.71536807
64	negative regulation of BMP signaling pathway (GO:0030514)	2.71457164
65	metanephric nephron epithelium development (GO:0072243)	2.71327156
66	smooth muscle tissue development (GO:0048745)	2.70912671
67	negative regulation of smooth muscle cell migration (GO:0014912)	2.70872619
68	endocrine hormone secretion (GO:0060986)	2.69708104
69	CDP-diacylglycerol metabolic process (GO:0046341)	2.69428555
70	positive regulation of extracellular matrix organization (GO:1903055)	2.67272293
71	positive regulation of fibroblast migration (GO:0010763)	2.65392093
72	positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)	2.65271665
73	cellular response to vitamin D (GO:0071305)	2.65189901
74	membrane assembly (GO:0071709)	2.63904495
75	protein heterotetramerization (GO:0051290)	2.60942291
76	endothelial cell proliferation (GO:0001935)	2.60144438
77	substrate-dependent cell migration (GO:0006929)	2.59022597
78	artery development (GO:0060840)	2.57806609
79	membrane budding (GO:0006900)	2.56894451
80	metanephric epithelium development (GO:0072207)	2.56121160
81	negative regulation of cartilage development (GO:0061037)	2.55116047
82	nucleotide-sugar biosynthetic process (GO:0009226)	2.52108721
83	endothelial cell morphogenesis (GO:0001886)	2.51649386
84	cellular response to zinc ion (GO:0071294)	2.51364888
85	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.50443075
86	extracellular matrix assembly (GO:0085029)	2.47882316
87	protein maturation by protein folding (GO:0022417)	2.47315136
88	primary alcohol metabolic process (GO:0034308)	2.47065900
89	endocardial cushion development (GO:0003197)	2.43556608
90	4-hydroxyproline metabolic process (GO:0019471)	2.43283470
91	erythrocyte maturation (GO:0043249)	2.43182840
92	sequestering of extracellular ligand from receptor (GO:0035581)	2.41688421
93	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.40727835
94	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)	2.40406526
95	muscle cell migration (GO:0014812)	2.35400916
96	chondrocyte proliferation (GO:0035988)	2.33768904
97	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.33376320
98	negative regulation of chondrocyte differentiation (GO:0032331)	2.31102370
99	white fat cell differentiation (GO:0050872)	2.30488427
100	regulation of apoptotic process involved in morphogenesis (GO:1902337)	2.30455845

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRIM28_21343339_ChIP-Seq_HEK293_Human	6.82751968
2	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	3.59193502
3	CJUN_26792858_Chip-Seq_BT549_Human	3.32481956
4	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	3.22446124
5	RARG_19884340_ChIP-ChIP_MEFs_Mouse	3.15858731
6	GBX2_23144817_ChIP-Seq_PC3_Human	3.09902958
7	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	3.07085008
8	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.89824902
9	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	2.87811689
10	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.80485633
11	BRD4_25478319_ChIP-Seq_HGPS_Human	2.75114261
12	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.63697999
13	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.56644408
14	PPAR_26484153_Chip-Seq_NCI-H1993_Human	2.49676365
15	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.35412740
16	TP53_18474530_ChIP-ChIP_U2OS_Human	2.23333406
17	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.18552227
18	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	2.17470326
19	NRF2_20460467_ChIP-Seq_MEFs_Mouse	2.17470326
20	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	2.14424045
21	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	2.11507447
22	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.07173697
23	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.95831630
24	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.95831630
25	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.95466482
26	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.95263171
27	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.92172210
28	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.88707101
29	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.84432018
30	CLOCK_20551151_ChIP-Seq_293T_Human	1.83579812
31	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.82440995
32	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.82318250
33	TP53_16413492_ChIP-PET_HCT116_Human	1.79612656
34	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.70138783
35	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.68878104
36	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.61360082
37	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.55783847
38	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.53625194
39	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.47585285
40	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.47434477
41	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.46981444
42	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.43568813
43	PPARG_20887899_ChIP-Seq_3T3-L1_Mouse	1.43216538
44	EOMES_21245162_ChIP-Seq_HESCs_Human	1.35707004
45	SOX2_20726797_ChIP-Seq_SW620_Human	1.34463334
46	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.26270187
47	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.24481001
48	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.24385208
49	ELK1_19687146_ChIP-ChIP_HELA_Human	1.24252869
50	SA1_22415368_ChIP-Seq_MEFs_Mouse	1.23287085
51	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.18461100
52	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.17320309
53	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.17238233
54	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	1.16287325
55	AR_21909140_ChIP-Seq_LNCAP_Human	1.15325762
56	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.14303116
57	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.13541465
58	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.12835041
59	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.12451014
60	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.09834250
61	SMAD4_21799915_ChIP-Seq_A2780_Human	1.08154410
62	TP63_23658742_ChIP-Seq_EP156T_Human	1.08030878
63	AR_25329375_ChIP-Seq_VCAP_Human	1.07831541
64	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.06267175
65	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.06098130
66	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05776160
67	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.05756465
68	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.05103180
69	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.04330255
70	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.04163906
71	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.04163906
72	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.03723826
73	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.01153647
74	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	1.00751309
75	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.00735634
76	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.00223519
77	P300_19829295_ChIP-Seq_ESCs_Human	0.99514134
78	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.99449632
79	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.98768602
80	SMC1_22415368_ChIP-Seq_MEFs_Mouse	0.98290202
81	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.98018454
82	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.97680282
83	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	0.97342288
84	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	0.94070120
85	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.90220585
86	PHF8_20622853_ChIP-Seq_HELA_Human	0.89977833
87	JUN_21703547_ChIP-Seq_K562_Human	0.88721002
88	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.88014125
89	NFI_21473784_ChIP-Seq_ESCs_Mouse	0.87899509
90	CDX2_22108803_ChIP-Seq_LS180_Human	0.87770839
91	FUS_26573619_Chip-Seq_HEK293_Human	0.87695366
92	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.87424085
93	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.86985531
94	PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human	0.86584717
95	TBL1_22424771_ChIP-Seq_293T_Human	0.85649240
96	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.84666737
97	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.84095145
98	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	0.81369477
99	TP63_17297297_ChIP-ChIP_HaCaT_Human	0.81165834
100	GATA4_25053715_ChIP-Seq_YYC3_Human	0.80124569

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	6.32745324
2	MP0004272_abnormal_basement_membrane	4.55998531
3	MP0003950_abnormal_plasma_membrane	4.29886369
4	MP0005503_abnormal_tendon_morphology	3.67586590
5	MP0005275_abnormal_skin_tensile	3.51951181
6	MP0005670_abnormal_white_adipose	3.26524844
7	MP0006054_spinal_hemorrhage	2.99913793
8	MP0003705_abnormal_hypodermis_morpholog	2.86230542
9	MP0001958_emphysema	2.61754044
10	MP0010386_abnormal_urinary_bladder	2.49631868
11	MP0003279_aneurysm	2.16250449
12	MP0010368_abnormal_lymphatic_system	2.10861671
13	MP0003186_abnormal_redox_activity	2.07268607
14	MP0005257_abnormal_intraocular_pressure	1.95258464
15	MP0000003_abnormal_adipose_tissue	1.91954319
16	MP0003941_abnormal_skin_development	1.91193806
17	MP0001542_abnormal_bone_strength	1.88807364
18	MP0005379_endocrine/exocrine_gland_phen	1.86712683
19	MP0005375_adipose_tissue_phenotype	1.81574498
20	MP0005084_abnormal_gallbladder_morpholo	1.80254590
21	MP0000749_muscle_degeneration	1.80076509
22	MP0002060_abnormal_skin_morphology	1.75692195
23	MP0005023_abnormal_wound_healing	1.67700675
24	MP0003195_calcinosis	1.66399940
25	MP0005666_abnormal_adipose_tissue	1.66136399
26	MP0003011_delayed_dark_adaptation	1.59941399
27	MP0002295_abnormal_pulmonary_circulatio	1.58119590
28	MP0005595_abnormal_vascular_smooth	1.57327601
29	MP0002971_abnormal_brown_adipose	1.56243311
30	MP0005164_abnormal_response_to	1.55290433
31	MP0009780_abnormal_chondrocyte_physiolo	1.53696881
32	MP0003566_abnormal_cell_adhesion	1.52295065
33	MP0005508_abnormal_skeleton_morphology	1.44792311
34	MP0009250_abnormal_appendicular_skeleto	1.43139373
35	MP0001879_abnormal_lymphatic_vessel	1.40006123
36	MP0010678_abnormal_skin_adnexa	1.38895000
37	MP0002108_abnormal_muscle_morphology	1.32887735
38	MP0000343_altered_response_to	1.29382673
39	MP0004883_abnormal_blood_vessel	1.25282365
40	MP0009697_abnormal_copulation	1.24334895
41	MP0001299_abnormal_eye_distance/	1.23714065
42	MP0005623_abnormal_meninges_morphology	1.21753154
43	MP0000762_abnormal_tongue_morphology	1.21482384
44	MP0002970_abnormal_white_adipose	1.21032468
45	MP0002896_abnormal_bone_mineralization	1.17024908
46	MP0003828_pulmonary_edema	1.14358589
47	MP0003091_abnormal_cell_migration	1.13779824
48	MP0000647_abnormal_sebaceous_gland	1.13119982
49	MP0000767_abnormal_smooth_muscle	1.11774153
50	MP0009384_cardiac_valve_regurgitation	1.10111152
51	MP0004185_abnormal_adipocyte_glucose	1.09032981
52	MP0001243_abnormal_dermal_layer	1.08642902
53	MP0002796_impaired_skin_barrier	1.07116281
54	MP0010030_abnormal_orbit_morphology	1.06638303
55	MP0009115_abnormal_fat_cell	1.03511701
56	MP0000751_myopathy	1.03246894
57	MP0003252_abnormal_bile_duct	1.03055834
58	MP0000750_abnormal_muscle_regeneration	1.02987363
59	MP0005197_abnormal_uvea_morphology	1.02555228
60	MP0005165_increased_susceptibility_to	0.99986414
61	MP0009053_abnormal_anal_canal	0.97714422
62	MP0003959_abnormal_lean_body	0.97379505
63	MP0003191_abnormal_cellular_cholesterol	0.97014492
64	MP0001915_intracranial_hemorrhage	0.93036336
65	MP0001727_abnormal_embryo_implantation	0.90433021
66	MP0005193_abnormal_anterior_eye	0.89685857
67	MP0010771_integument_phenotype	0.88655011
68	MP0006138_congestive_heart_failure	0.88423087
69	MP0000759_abnormal_skeletal_muscle	0.87095683
70	MP0000428_abnormal_craniofacial_morphol	0.84387430
71	MP0001661_extended_life_span	0.83926385
72	MP0001881_abnormal_mammary_gland	0.83207231
73	MP0000163_abnormal_cartilage_morphology	0.81102879
74	MP0000013_abnormal_adipose_tissue	0.81101580
75	MP0005385_cardiovascular_system_phenoty	0.80610147
76	MP0001544_abnormal_cardiovascular_syste	0.80610147
77	MP0001851_eye_inflammation	0.78258193
78	MP0003868_abnormal_feces_composition	0.77269001
79	MP0005452_abnormal_adipose_tissue	0.76741502
80	MP0005332_abnormal_amino_acid	0.76362413
81	MP0004130_abnormal_muscle_cell	0.75279859
82	MP0002282_abnormal_trachea_morphology	0.75256708
83	MP0004233_abnormal_muscle_weight	0.74273343
84	MP0002972_abnormal_cardiac_muscle	0.72264546
85	MP0010329_abnormal_lipoprotein_level	0.70859744
86	MP0000534_abnormal_ureter_morphology	0.68874264
87	MP0002128_abnormal_blood_circulation	0.68151896
88	MP0002234_abnormal_pharynx_morphology	0.67965638
89	MP0000747_muscle_weakness	0.67182458
90	MP0004084_abnormal_cardiac_muscle	0.66269832
91	MP0010352_gastrointestinal_tract_polyps	0.65417877
92	MP0002876_abnormal_thyroid_physiology	0.63182005
93	MP0000230_abnormal_systemic_arterial	0.62931407
94	MP0001270_distended_abdomen	0.62253124
95	MP0005620_abnormal_muscle_contractility	0.61530076
96	MP0000249_abnormal_blood_vessel	0.59771876
97	MP0002168_other_aberrant_phenotype	0.59555323
98	MP0002269_muscular_atrophy	0.59520612
99	MP0002115_abnormal_skeleton_extremities	0.59492773
100	MP0005334_abnormal_fat_pad	0.59442093

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Protrusio acetabuli (HP:0003179)	6.46848989
2	Osteolytic defects of the phalanges of the hand (HP:0009771)	5.72594043
3	Osteolytic defects of the hand bones (HP:0009699)	5.72594043
4	Premature rupture of membranes (HP:0001788)	5.56116174
5	Aortic aneurysm (HP:0004942)	5.26722546
6	Vascular tortuosity (HP:0004948)	5.01722803
7	Wormian bones (HP:0002645)	4.64764609
8	Aortic dissection (HP:0002647)	4.63762698
9	Autoamputation (HP:0001218)	4.37989058
10	Vertebral compression fractures (HP:0002953)	3.99645183
11	Soft skin (HP:0000977)	3.94556284
12	Arterial tortuosity (HP:0005116)	3.90524844
13	Follicular hyperkeratosis (HP:0007502)	3.87093303
14	Spondylolisthesis (HP:0003302)	3.56655251
15	Ankle contracture (HP:0006466)	3.19688327
16	Hyporeflexia of lower limbs (HP:0002600)	3.11006317
17	Spinal rigidity (HP:0003306)	2.98755600
18	3-Methylglutaconic aciduria (HP:0003535)	2.94558269
19	Increased variability in muscle fiber diameter (HP:0003557)	2.93769487
20	Abnormality of dentin (HP:0010299)	2.90888834
21	Glucose intolerance (HP:0000833)	2.84418104
22	Renal Fanconi syndrome (HP:0001994)	2.80666610
23	Reduced subcutaneous adipose tissue (HP:0003758)	2.78525370
24	Dilatation of the ascending aorta (HP:0005111)	2.67954200
25	Atrophic scars (HP:0001075)	2.67320186
26	Type 1 muscle fiber predominance (HP:0003803)	2.63432081
27	Muscle fiber splitting (HP:0003555)	2.63192165
28	Abnormality of skeletal muscle fiber size (HP:0012084)	2.59151005
29	Metaphyseal dysplasia (HP:0100255)	2.57305254
30	Cervical subluxation (HP:0003308)	2.49283457
31	Hydroxyprolinuria (HP:0003080)	2.48853507
32	Abnormality of proline metabolism (HP:0010907)	2.48853507
33	Slender build (HP:0001533)	2.46886289
34	Acanthosis nigricans (HP:0000956)	2.45679113
35	Blue sclerae (HP:0000592)	2.40812231
36	Ectopia lentis (HP:0001083)	2.38143595
37	Cardiovascular calcification (HP:0011915)	2.37746379
38	Microglossia (HP:0000171)	2.37053173
39	Acute necrotizing encephalopathy (HP:0006965)	2.30054267
40	Fragile skin (HP:0001030)	2.27054934
41	Mitral regurgitation (HP:0001653)	2.22067964
42	Bladder diverticulum (HP:0000015)	2.21564400
43	Absent frontal sinuses (HP:0002688)	2.18255375
44	Lipoatrophy (HP:0100578)	2.17828323
45	Neonatal short-limb short stature (HP:0008921)	2.16459555
46	Neck muscle weakness (HP:0000467)	2.16257275
47	Broad metatarsal (HP:0001783)	2.13662907
48	Delayed cranial suture closure (HP:0000270)	2.12757889
49	Acute encephalopathy (HP:0006846)	2.09670176
50	Tetraparesis (HP:0002273)	2.09294483
51	Delayed closure of the anterior fontanelle (HP:0001476)	2.08097494
52	Nuclear cataract (HP:0100018)	2.07017623
53	Abnormal mitochondria in muscle tissue (HP:0008316)	2.06614776
54	Abnormality of placental membranes (HP:0011409)	2.05668865
55	Amniotic constriction ring (HP:0009775)	2.05668865
56	Biconcave vertebral bodies (HP:0004586)	2.04833386
57	Mitochondrial inheritance (HP:0001427)	2.03375163
58	Exertional dyspnea (HP:0002875)	2.02825463
59	Progressive macrocephaly (HP:0004481)	2.01740888
60	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.99184832
61	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.97405197
62	Mildly elevated creatine phosphokinase (HP:0008180)	1.96286010
63	Mitral stenosis (HP:0001718)	1.94721094
64	Joint laxity (HP:0001388)	1.94466960
65	Mitral valve prolapse (HP:0001634)	1.93522876
66	Knee flexion contracture (HP:0006380)	1.92776248
67	Increased hepatocellular lipid droplets (HP:0006565)	1.92216658
68	Patent foramen ovale (HP:0001655)	1.89884211
69	Delayed gross motor development (HP:0002194)	1.84839886
70	Aplasia of the musculature (HP:0100854)	1.84770006
71	Hypertriglyceridemia (HP:0002155)	1.84270968
72	Aortic regurgitation (HP:0001659)	1.83994864
73	Abnormality of the fetal cardiovascular system (HP:0010948)	1.82198112
74	Abnormal umbilical cord blood vessels (HP:0011403)	1.82198112
75	Single umbilical artery (HP:0001195)	1.82198112
76	Abnormality of the anterior chamber (HP:0000593)	1.81620747
77	Abnormality of the acetabulum (HP:0003170)	1.79900049
78	Elbow flexion contracture (HP:0002987)	1.79478458
79	Hepatocellular necrosis (HP:0001404)	1.78666455
80	Abnormal glucose tolerance (HP:0001952)	1.77098909
81	Bone cyst (HP:0012062)	1.76769816
82	Abnormality of alanine metabolism (HP:0010916)	1.75273275
83	Hyperalaninemia (HP:0003348)	1.75273275
84	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.75273275
85	Generalized amyotrophy (HP:0003700)	1.73670484
86	Hyperextensible skin (HP:0000974)	1.73638398
87	Cerebral edema (HP:0002181)	1.70523546
88	Oligomenorrhea (HP:0000876)	1.70021980
89	Genu recurvatum (HP:0002816)	1.69664476
90	Redundant skin (HP:0001582)	1.68839894
91	Increased muscle lipid content (HP:0009058)	1.68570493
92	Abnormalities of placenta or umbilical cord (HP:0001194)	1.68265557
93	Vascular calcification (HP:0004934)	1.67864201
94	Overgrowth (HP:0001548)	1.67805273
95	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.65971132
96	Nemaline bodies (HP:0003798)	1.64276901
97	Abnormality of renal resorption (HP:0011038)	1.63965941
98	Abnormal delivery (HP:0001787)	1.63494733
99	Abnormality of the umbilical cord (HP:0010881)	1.63364970
100	Shallow orbits (HP:0000586)	1.63229605

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BRSK2	6.27286827
2	MAP3K12	5.56992056
3	MYLK	5.06269647
4	WEE1	3.76666233
5	PBK	2.89993748
6	BRSK1	2.66745266
7	NEK9	2.33276853
8	PAK4	2.28500525
9	EPHB2	2.15444424
10	DDR2	2.09503733
11	MST4	1.92088099
12	TGFBR2	1.87865898
13	TESK1	1.84157975
14	EIF2AK1	1.80339130
15	BCR	1.68155847
16	LATS2	1.67853364
17	LIMK1	1.54545217
18	ABL2	1.42732434
19	ILK	1.39924580
20	VRK2	1.39733010
21	PTK2	1.32446884
22	ARAF	1.31666271
23	MST1R	1.31118597
24	TRIM28	1.27178269
25	EIF2AK3	1.23130098
26	PAK2	1.20176689
27	PDGFRA	1.19683781
28	MAP3K13	1.18423517
29	NME2	1.18363185
30	ERBB4	1.17504152
31	CASK	1.15520552
32	STK16	1.14060334
33	DAPK3	1.12514007
34	BMPR1B	1.12149774
35	NEK1	1.09930183
36	MOS	1.08643033
37	CDK8	1.04404636
38	PKN1	0.98501121
39	TIE1	0.98052117
40	GRK5	0.96996477
41	FLT3	0.96906800
42	STK38L	0.92032694
43	MET	0.89909052
44	LATS1	0.85815715
45	TAF1	0.85529979
46	ADRBK1	0.82572494
47	NUAK1	0.79376702
48	ROCK1	0.79330445
49	BUB1	0.77459180
50	STK38	0.76570980
51	TRPM7	0.71209386
52	MUSK	0.69813389
53	EPHA2	0.69679288
54	GSK3A	0.67499812
55	PRKCE	0.67262872
56	DAPK1	0.66496918
57	EIF2AK2	0.65732608
58	SMG1	0.64740021
59	SIK3	0.63380663
60	PRKD2	0.62336593
61	MAP2K1	0.61622166
62	ROCK2	0.58748632
63	PINK1	0.58517517
64	ERBB3	0.57472845
65	PIM2	0.56930625
66	CAMK2G	0.56186007
67	SIK1	0.54167278
68	MKNK2	0.50940286
69	FER	0.49576180
70	PIK3CG	0.48771423
71	PLK2	0.47418579
72	NTRK1	0.46864827
73	PDGFRB	0.46072308
74	AURKA	0.45896620
75	GRK1	0.45563002
76	CDK9	0.43910055
77	PRKG1	0.40742501
78	PAK1	0.40411762
79	PRKAA2	0.39875792
80	CDK4	0.37568140
81	PNCK	0.37178465
82	TAOK2	0.36497982
83	MAPK7	0.35632263
84	MAP3K3	0.34265774
85	NME1	0.33127011
86	PLK3	0.32253276
87	GRK7	0.31747386
88	PLK1	0.30989339
89	TNIK	0.28966557
90	CAMK2D	0.28308363
91	FGFR1	0.28268224
92	TTK	0.28258619
93	MAPKAPK2	0.28229521
94	ABL1	0.27612508
95	SCYL2	0.26784911
96	STK3	0.25879422
97	PTK2B	0.24244805
98	CAMK2B	0.24218835
99	PRKD1	0.22501881
100	ADRBK2	0.21350999

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.16926019
2	Fatty acid elongation_Homo sapiens_hsa00062	3.16132457
3	ECM-receptor interaction_Homo sapiens_hsa04512	3.00689088
4	Propanoate metabolism_Homo sapiens_hsa00640	2.56436067
5	Sulfur metabolism_Homo sapiens_hsa00920	2.55048048
6	Protein export_Homo sapiens_hsa03060	2.54084832
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.26180791
8	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	2.25851632
9	Glutathione metabolism_Homo sapiens_hsa00480	2.02582941
10	PPAR signaling pathway_Homo sapiens_hsa03320	2.01291811
11	Pyruvate metabolism_Homo sapiens_hsa00620	1.91583128
12	Parkinsons disease_Homo sapiens_hsa05012	1.89663176
13	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.89156401
14	Focal adhesion_Homo sapiens_hsa04510	1.82567445
15	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.66702101
16	Sulfur relay system_Homo sapiens_hsa04122	1.66223525
17	Glycerolipid metabolism_Homo sapiens_hsa00561	1.64048867
18	Fatty acid degradation_Homo sapiens_hsa00071	1.58691040
19	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.54058349
20	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.54001314
21	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.53750533
22	Alzheimers disease_Homo sapiens_hsa05010	1.51924619
23	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.45348261
24	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.42075750
25	Huntingtons disease_Homo sapiens_hsa05016	1.41626317
26	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.41332699
27	Folate biosynthesis_Homo sapiens_hsa00790	1.39312392
28	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.38910001
29	Regulation of autophagy_Homo sapiens_hsa04140	1.37410189
30	Tyrosine metabolism_Homo sapiens_hsa00350	1.36732722
31	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.30333212
32	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.29955229
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.29010403
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.24074606
35	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.22280712
36	Protein digestion and absorption_Homo sapiens_hsa04974	1.12695099
37	Fatty acid metabolism_Homo sapiens_hsa01212	1.11003878
38	Phenylalanine metabolism_Homo sapiens_hsa00360	1.10424862
39	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.10287496
40	Circadian rhythm_Homo sapiens_hsa04710	1.05220264
41	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.04029537
42	beta-Alanine metabolism_Homo sapiens_hsa00410	1.00017039
43	Chemical carcinogenesis_Homo sapiens_hsa05204	0.99097314
44	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.95948484
45	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.95146081
46	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.94347964
47	Proteoglycans in cancer_Homo sapiens_hsa05205	0.94310828
48	Carbon metabolism_Homo sapiens_hsa01200	0.92544287
49	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.92252685
50	Melanoma_Homo sapiens_hsa05218	0.90137803
51	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.88980166
52	Adherens junction_Homo sapiens_hsa04520	0.86722808
53	Galactose metabolism_Homo sapiens_hsa00052	0.85930498
54	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.85522665
55	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.84264839
56	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.84143156
57	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.83715332
58	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.80361831
59	Renin-angiotensin system_Homo sapiens_hsa04614	0.80299799
60	Retinol metabolism_Homo sapiens_hsa00830	0.80153812
61	RNA polymerase_Homo sapiens_hsa03020	0.78036059
62	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.78002977
63	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.77103377
64	Cardiac muscle contraction_Homo sapiens_hsa04260	0.72377775
65	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.70432769
66	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.65246482
67	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.65089538
68	Fat digestion and absorption_Homo sapiens_hsa04975	0.62913693
69	Malaria_Homo sapiens_hsa05144	0.62390047
70	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.62136772
71	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.61679748
72	Basal transcription factors_Homo sapiens_hsa03022	0.60856680
73	Nitrogen metabolism_Homo sapiens_hsa00910	0.60200888
74	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.59733575
75	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.58930453
76	Metabolic pathways_Homo sapiens_hsa01100	0.57810898
77	Arginine and proline metabolism_Homo sapiens_hsa00330	0.55189126
78	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.54882569
79	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.54809749
80	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.54346908
81	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.51304257
82	Sphingolipid metabolism_Homo sapiens_hsa00600	0.50574472
83	Pathways in cancer_Homo sapiens_hsa05200	0.48870744
84	Small cell lung cancer_Homo sapiens_hsa05222	0.48788926
85	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.47971969
86	Ribosome_Homo sapiens_hsa03010	0.46304761
87	Selenocompound metabolism_Homo sapiens_hsa00450	0.45696445
88	Pyrimidine metabolism_Homo sapiens_hsa00240	0.43959173
89	p53 signaling pathway_Homo sapiens_hsa04115	0.43781040
90	Vibrio cholerae infection_Homo sapiens_hsa05110	0.41931191
91	Basal cell carcinoma_Homo sapiens_hsa05217	0.41143672
92	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.40395847
93	AMPK signaling pathway_Homo sapiens_hsa04152	0.39464015
94	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.38468376
95	Amoebiasis_Homo sapiens_hsa05146	0.37206552
96	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.36875564
97	Tight junction_Homo sapiens_hsa04530	0.36366915
98	Steroid biosynthesis_Homo sapiens_hsa00100	0.36236629
99	Pancreatic cancer_Homo sapiens_hsa05212	0.35541186
100	Hippo signaling pathway_Homo sapiens_hsa04390	0.35192869

PQLC2L

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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