ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of skeletal muscle contraction (GO:0014819)	5.51046318
2	positive regulation of protein kinase C signaling (GO:0090037)	5.35536924
3	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	4.66630447
4	mRNA cleavage (GO:0006379)	4.43635429
5	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	4.39399728
6	positive regulation of catecholamine secretion (GO:0033605)	4.37854401
7	motile cilium assembly (GO:0044458)	4.27732590
8	negative regulation of cell aging (GO:0090344)	4.22422390
9	protein carboxylation (GO:0018214)	4.01922891
10	peptidyl-glutamic acid carboxylation (GO:0017187)	4.01922891
11	DNA strand renaturation (GO:0000733)	3.95149304
12	urinary tract smooth muscle contraction (GO:0014848)	3.92925394
13	coenzyme catabolic process (GO:0009109)	3.78312672
14	cranial nerve morphogenesis (GO:0021602)	3.50946477
15	regulation of synapse structural plasticity (GO:0051823)	3.42819433
16	regulation of ARF GTPase activity (GO:0032312)	3.41486991
17	androgen biosynthetic process (GO:0006702)	3.38790722
18	mannose metabolic process (GO:0006013)	3.36267142
19	semaphorin-plexin signaling pathway (GO:0071526)	3.34874867
20	muscle fiber development (GO:0048747)	3.28943582
21	GDP-mannose metabolic process (GO:0019673)	3.27721927
22	cGMP-mediated signaling (GO:0019934)	3.24976134
23	regulation of protein kinase C signaling (GO:0090036)	3.22829269
24	cellular response to ATP (GO:0071318)	3.19929773
25	axon extension involved in axon guidance (GO:0048846)	3.09499006
26	neuron projection extension involved in neuron projection guidance (GO:1902284)	3.09499006
27	mesenchymal-epithelial cell signaling (GO:0060638)	3.04420462
28	cilium or flagellum-dependent cell motility (GO:0001539)	3.03241059
29	meiotic chromosome segregation (GO:0045132)	3.00755615
30	protein localization to cell surface (GO:0034394)	3.00744687
31	activation of protein kinase B activity (GO:0032148)	3.00048439
32	adenosine receptor signaling pathway (GO:0001973)	2.96796873
33	diacylglycerol metabolic process (GO:0046339)	2.92601670
34	regulation of phosphoprotein phosphatase activity (GO:0043666)	2.91197928
35	multicellular organism reproduction (GO:0032504)	2.90482353
36	negative regulation of fatty acid transport (GO:2000192)	2.87622701
37	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.82634747
38	histone H3-K36 demethylation (GO:0070544)	2.79035428
39	myofibril assembly (GO:0030239)	2.78748144
40	mitotic cell cycle arrest (GO:0071850)	2.78298069
41	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.77598653
42	regulation of phospholipase A2 activity (GO:0032429)	2.74467025
43	paraxial mesoderm development (GO:0048339)	2.73681358
44	rRNA methylation (GO:0031167)	2.71857434
45	sperm motility (GO:0030317)	2.67871384
46	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.67460967
47	UV protection (GO:0009650)	2.67349255
48	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr	2.64034946
49	acrosome reaction (GO:0007340)	2.63409556
50	thyroid gland development (GO:0030878)	2.58443510
51	type B pancreatic cell development (GO:0003323)	2.57154425
52	estrogen biosynthetic process (GO:0006703)	2.55633635
53	focal adhesion assembly (GO:0048041)	2.51461108
54	cell-substrate adherens junction assembly (GO:0007045)	2.51461108
55	TOR signaling (GO:0031929)	2.51436690
56	cardiac myofibril assembly (GO:0055003)	2.49893524
57	fibroblast migration (GO:0010761)	2.48748506
58	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.48087235
59	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	2.46929471
60	embryonic skeletal system morphogenesis (GO:0048704)	2.46136133
61	cytoplasmic mRNA processing body assembly (GO:0033962)	2.45045529
62	ovulation from ovarian follicle (GO:0001542)	2.43928177
63	regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition	2.43200156
64	sex determination (GO:0007530)	2.43111115
65	peptidyl-lysine dimethylation (GO:0018027)	2.42877439
66	peripheral nervous system axon ensheathment (GO:0032292)	2.42440758
67	myelination in peripheral nervous system (GO:0022011)	2.42440758
68	cardiac muscle hypertrophy (GO:0003300)	2.42132370
69	regulation of protein kinase A signaling (GO:0010738)	2.41724002
70	sensory perception of taste (GO:0050909)	2.41485437
71	coronary vasculature morphogenesis (GO:0060977)	2.41101330
72	cardiac muscle adaptation (GO:0014887)	2.39513817
73	cardiac muscle hypertrophy in response to stress (GO:0014898)	2.39513817
74	muscle hypertrophy in response to stress (GO:0003299)	2.39513817
75	establishment of spindle localization (GO:0051293)	2.38564441
76	sphingomyelin metabolic process (GO:0006684)	2.36837833
77	regulation of cardioblast differentiation (GO:0051890)	2.36703771
78	transepithelial transport (GO:0070633)	2.36502365
79	peptidyl-glutamic acid modification (GO:0018200)	2.36412265
80	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.36227822
81	spermatid development (GO:0007286)	2.36007456
82	embryonic forelimb morphogenesis (GO:0035115)	2.35601890
83	cell migration in hindbrain (GO:0021535)	2.33258339
84	neuromuscular synaptic transmission (GO:0007274)	2.32989523
85	striated muscle cell development (GO:0055002)	2.32821365
86	relaxation of smooth muscle (GO:0044557)	2.32753721
87	muscle cell development (GO:0055001)	2.31763082
88	detection of light stimulus involved in sensory perception (GO:0050962)	2.31519376
89	detection of light stimulus involved in visual perception (GO:0050908)	2.31519376
90	adherens junction assembly (GO:0034333)	2.30930090
91	phosphatidylethanolamine biosynthetic process (GO:0006646)	2.30852732
92	single fertilization (GO:0007338)	2.30352302
93	striated muscle hypertrophy (GO:0014897)	2.29559984
94	negative regulation of DNA binding (GO:0043392)	2.27530424
95	melanin biosynthetic process (GO:0042438)	2.26642547
96	cell volume homeostasis (GO:0006884)	2.26223250
97	lens fiber cell differentiation (GO:0070306)	2.25793813
98	cellular zinc ion homeostasis (GO:0006882)	2.24279564
99	ventricular system development (GO:0021591)	2.24088121
100	hippo signaling (GO:0035329)	2.22968871

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	9.04220665
2	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.82689943
3	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	3.29896119
4	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.97030233
5	VDR_21846776_ChIP-Seq_THP-1_Human	2.53380907
6	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.40289813
7	LXR_22292898_ChIP-Seq_THP-1_Human	2.39702542
8	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.36590752
9	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	2.24293032
10	P68_20966046_ChIP-Seq_HELA_Human	2.19605907
11	CTCF_27219007_Chip-Seq_Bcells_Human	2.16761474
12	AR_21572438_ChIP-Seq_LNCaP_Human	2.13661621
13	GBX2_23144817_ChIP-Seq_PC3_Human	1.95969203
14	TP53_22127205_ChIP-Seq_IMR90_Human	1.90101054
15	SMC4_20622854_ChIP-Seq_HELA_Human	1.87826837
16	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.76137570
17	RACK7_27058665_Chip-Seq_MCF-7_Human	1.73152923
18	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.72131369
19	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.69718547
20	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.67366868
21	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.66521018
22	KDM2B_26808549_Chip-Seq_DND41_Human	1.65863545
23	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.64858871
24	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.62267825
25	E2F1_20622854_ChIP-Seq_HELA_Human	1.62040065
26	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.61550224
27	PHF8_20622854_ChIP-Seq_HELA_Human	1.58981648
28	CREB1_26743006_Chip-Seq_LNCaP_Human	1.58693011
29	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.57379295
30	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.56601213
31	CTCF_21964334_Chip-Seq_Bcells_Human	1.52942727
32	KDM2B_26808549_Chip-Seq_K562_Human	1.50174498
33	MAF_26560356_Chip-Seq_TH2_Human	1.49622632
34	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.49103107
35	PKCTHETA_26484144_Chip-Seq_BREAST_Human	1.48941822
36	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.45061452
37	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.43658161
38	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.43567359
39	DROSHA_22980978_ChIP-Seq_HELA_Human	1.42579337
40	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.40720661
41	ERA_21632823_ChIP-Seq_H3396_Human	1.40442610
42	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.39523277
43	BCOR_27268052_Chip-Seq_Bcells_Human	1.38734030
44	CTCF_20526341_ChIP-Seq_ESCs_Human	1.37545816
45	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.36114416
46	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.34502306
47	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.32690761
48	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.31891610
49	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.31107197
50	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.30498530
51	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.30200921
52	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.30070214
53	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.28899019
54	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.27610950
55	BCL6_27268052_Chip-Seq_Bcells_Human	1.27148890
56	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.26997642
57	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.26941713
58	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.26387958
59	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.24998893
60	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.24998893
61	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.24921716
62	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.23105040
63	GATA1_22025678_ChIP-Seq_K562_Human	1.22287044
64	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.21945761
65	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.21902228
66	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.20811974
67	TP63_22573176_ChIP-Seq_HFKS_Human	1.20377407
68	EZH2_22144423_ChIP-Seq_EOC_Human	1.16830367
69	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.15936771
70	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.15638825
71	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.13903562
72	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.13868789
73	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.12393769
74	KDM2B_26808549_Chip-Seq_JURKAT_Human	1.10299307
75	RAC3_21632823_ChIP-Seq_H3396_Human	1.09056095
76	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.08097464
77	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.07765600
78	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.05246884
79	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.05184811
80	NANOG_20526341_ChIP-Seq_ESCs_Human	1.04804957
81	OCT4_20526341_ChIP-Seq_ESCs_Human	1.04632917
82	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.03745996
83	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.02742244
84	RXRA_24833708_ChIP-Seq_LIVER_Mouse	1.02123167
85	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.01387790
86	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	0.99841230
87	IGF1R_20145208_ChIP-Seq_DFB_Human	0.98800373
88	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.98563924
89	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.98013106
90	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.97256012
91	XRN2_22483619_ChIP-Seq_HELA_Human	0.96762413
92	OCT4_19829295_ChIP-Seq_ESCs_Human	0.94813043
93	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.93747424
94	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.93485385
95	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.93059881
96	RARB_24833708_ChIP-Seq_LIVER_Mouse	0.92598829
97	CTNNB1_20460455_ChIP-Seq_HCT116_Human	0.91398031
98	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.90513107
99	ATF3_27146783_Chip-Seq_COLON_Human	0.90026990
100	RXR_22108803_ChIP-Seq_LS180_Human	0.89633900

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005171_absent_coat_pigmentation	4.71421384
2	MP0003136_yellow_coat_color	3.57099816
3	MP0005174_abnormal_tail_pigmentation	3.08306683
4	MP0005409_darkened_coat_color	3.07118128
5	MP0001661_extended_life_span	2.95081197
6	MP0000751_myopathy	2.92017867
7	MP0004272_abnormal_basement_membrane	2.90313602
8	MP0001986_abnormal_taste_sensitivity	2.60439476
9	MP0002160_abnormal_reproductive_system	2.55022582
10	MP0010368_abnormal_lymphatic_system	2.52876083
11	MP0001188_hyperpigmentation	2.42387898
12	MP0005410_abnormal_fertilization	2.42338149
13	MP0005423_abnormal_somatic_nervous	2.28828961
14	MP0003705_abnormal_hypodermis_morpholog	2.24082066
15	MP0005330_cardiomyopathy	2.02886937
16	MP0004084_abnormal_cardiac_muscle	2.02204540
17	MP0000013_abnormal_adipose_tissue	1.98075498
18	MP0002249_abnormal_larynx_morphology	1.88848797
19	MP0003315_abnormal_perineum_morphology	1.86282095
20	MP0000538_abnormal_urinary_bladder	1.81498083
21	MP0008004_abnormal_stomach_pH	1.76244056
22	MP0001502_abnormal_circadian_rhythm	1.75152946
23	MP0005083_abnormal_biliary_tract	1.63567949
24	MP0000747_muscle_weakness	1.62496580
25	MP0008438_abnormal_cutaneous_collagen	1.58495096
26	MP0000750_abnormal_muscle_regeneration	1.52961617
27	MP0001756_abnormal_urination	1.52508511
28	MP0003385_abnormal_body_wall	1.51943996
29	MP0010386_abnormal_urinary_bladder	1.48644167
30	MP0004036_abnormal_muscle_relaxation	1.43280001
31	MP0000537_abnormal_urethra_morphology	1.41597994
32	MP0001664_abnormal_digestion	1.41387956
33	MP0000003_abnormal_adipose_tissue	1.41064465
34	MP0000749_muscle_degeneration	1.38882242
35	MP0001958_emphysema	1.37924281
36	MP0001849_ear_inflammation	1.34746804
37	MP0002108_abnormal_muscle_morphology	1.33526212
38	MP0005503_abnormal_tendon_morphology	1.31169714
39	MP0004233_abnormal_muscle_weight	1.26513139
40	MP0002638_abnormal_pupillary_reflex	1.25193850
41	MP0005623_abnormal_meninges_morphology	1.21704292
42	MP0004087_abnormal_muscle_fiber	1.17567187
43	MP0003091_abnormal_cell_migration	1.14653808
44	MP0000759_abnormal_skeletal_muscle	1.12611277
45	MP0004215_abnormal_myocardial_fiber	1.08269953
46	MP0004130_abnormal_muscle_cell	1.07787756
47	MP0000015_abnormal_ear_pigmentation	1.06849056
48	MP0001270_distended_abdomen	1.06418103
49	MP0009697_abnormal_copulation	1.06355150
50	MP0003453_abnormal_keratinocyte_physiol	1.00959418
51	MP0005187_abnormal_penis_morphology	1.00400535
52	MP0009250_abnormal_appendicular_skeleto	0.99010095
53	MP0000534_abnormal_ureter_morphology	0.98817185
54	MP0002127_abnormal_cardiovascular_syste	0.96915559
55	MP0001968_abnormal_touch/_nociception	0.96760905
56	MP0003935_abnormal_craniofacial_develop	0.96687823
57	MP0001299_abnormal_eye_distance/	0.92998026
58	MP0005275_abnormal_skin_tensile	0.92427806
59	MP0005620_abnormal_muscle_contractility	0.92236756
60	MP0001879_abnormal_lymphatic_vessel	0.92060145
61	MP0003698_abnormal_male_reproductive	0.91934813
62	MP0001984_abnormal_olfaction	0.91300589
63	MP0000733_abnormal_muscle_development	0.91051002
64	MP0008057_abnormal_DNA_replication	0.89710627
65	MP0005076_abnormal_cell_differentiation	0.88420846
66	MP0003942_abnormal_urinary_system	0.86894842
67	MP0002132_abnormal_respiratory_system	0.86519157
68	MP0003879_abnormal_hair_cell	0.84428147
69	MP0010030_abnormal_orbit_morphology	0.83456258
70	MP0003137_abnormal_impulse_conducting	0.82104170
71	MP0000767_abnormal_smooth_muscle	0.81796250
72	MP0000678_abnormal_parathyroid_gland	0.80432008
73	MP0008770_decreased_survivor_rate	0.80400359
74	MP0010630_abnormal_cardiac_muscle	0.79767677
75	MP0003077_abnormal_cell_cycle	0.79481036
76	MP0003045_fibrosis	0.79454949
77	MP0002269_muscular_atrophy	0.77813128
78	MP0005595_abnormal_vascular_smooth	0.77613411
79	MP0003755_abnormal_palate_morphology	0.76797821
80	MP0002115_abnormal_skeleton_extremities	0.75057568
81	MP0005389_reproductive_system_phenotype	0.73771196
82	MP0006138_congestive_heart_failure	0.73037711
83	MP0001929_abnormal_gametogenesis	0.72957794
84	MP0004381_abnormal_hair_follicle	0.72728496
85	MP0005257_abnormal_intraocular_pressure	0.70768908
86	MP0002254_reproductive_system_inflammat	0.70311413
87	MP0008875_abnormal_xenobiotic_pharmacok	0.69619167
88	MP0002735_abnormal_chemical_nociception	0.69551485
89	MP0005253_abnormal_eye_physiology	0.69466967
90	MP0003632_abnormal_nervous_system	0.68538063
91	MP0002114_abnormal_axial_skeleton	0.66565854
92	MP0004197_abnormal_fetal_growth/weight/	0.66454180
93	MP0003111_abnormal_nucleus_morphology	0.65905045
94	MP0005391_vision/eye_phenotype	0.63563725
95	MP0000470_abnormal_stomach_morphology	0.62955691
96	MP0003279_aneurysm	0.62916140
97	MP0003937_abnormal_limbs/digits/tail_de	0.62042217
98	MP0002233_abnormal_nose_morphology	0.61996782
99	MP0001919_abnormal_reproductive_system	0.59294076
100	MP0004085_abnormal_heartbeat	0.59090312

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the intrinsic pathway (HP:0010989)	4.93862656
2	Facial hemangioma (HP:0000329)	4.64552326
3	Ulnar bowing (HP:0003031)	4.59717751
4	Aortic aneurysm (HP:0004942)	4.01022554
5	Capillary hemangiomas (HP:0005306)	3.86019416
6	Testicular atrophy (HP:0000029)	3.71153673
7	Dyschromatopsia (HP:0007641)	3.67352329
8	Thin bony cortex (HP:0002753)	3.61675809
9	Rib fusion (HP:0000902)	3.56363845
10	Abnormality of the columella (HP:0009929)	3.53409595
11	Popliteal pterygium (HP:0009756)	3.44773275
12	Turricephaly (HP:0000262)	3.42217081
13	Facial diplegia (HP:0001349)	3.33822692
14	Intestinal fistula (HP:0100819)	3.27060207
15	Mesangial abnormality (HP:0001966)	3.17671675
16	Short chin (HP:0000331)	3.12666662
17	Poikiloderma (HP:0001029)	3.11219331
18	Hemorrhage of the eye (HP:0011885)	3.10779268
19	Prolonged partial thromboplastin time (HP:0003645)	3.10464420
20	Attenuation of retinal blood vessels (HP:0007843)	3.07696223
21	Coronal craniosynostosis (HP:0004440)	2.99459115
22	Rectovaginal fistula (HP:0000143)	2.98084888
23	Rectal fistula (HP:0100590)	2.98084888
24	Joint hemorrhage (HP:0005261)	2.94086891
25	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.86735541
26	Vaginal fistula (HP:0004320)	2.78555004
27	Annular pancreas (HP:0001734)	2.70922788
28	High anterior hairline (HP:0009890)	2.65933324
29	Self-mutilation (HP:0000742)	2.52450607
30	Atrioventricular block (HP:0001678)	2.51406759
31	Choroideremia (HP:0001139)	2.48340909
32	Anteriorly placed anus (HP:0001545)	2.47391221
33	Squamous cell carcinoma (HP:0002860)	2.46775693
34	Aplasia of the musculature (HP:0100854)	2.40141948
35	Increased number of teeth (HP:0011069)	2.36386126
36	Reduced antithrombin III activity (HP:0001976)	2.36273643
37	Narrow nasal bridge (HP:0000446)	2.35528326
38	Bowed forearm bones (HP:0003956)	2.30766865
39	Bowing of the arm (HP:0006488)	2.30766865
40	Myotonia (HP:0002486)	2.22502628
41	Thin ribs (HP:0000883)	2.22251839
42	Bony spicule pigmentary retinopathy (HP:0007737)	2.21606980
43	Fetal akinesia sequence (HP:0001989)	2.19314995
44	Spinal rigidity (HP:0003306)	2.19107825
45	Protruding tongue (HP:0010808)	2.17710079
46	Patellar aplasia (HP:0006443)	2.15426589
47	Abnormal albumin level (HP:0012116)	2.13509759
48	Hypoalbuminemia (HP:0003073)	2.13509759
49	Absent radius (HP:0003974)	2.10504236
50	Akinesia (HP:0002304)	2.09959417
51	Absent thumb (HP:0009777)	2.06445534
52	Chronic hepatic failure (HP:0100626)	2.05709206
53	Short humerus (HP:0005792)	2.02496044
54	Abnormality of the fingertips (HP:0001211)	2.02155279
55	Hypoplastic nipples (HP:0002557)	1.99515078
56	Germ cell neoplasia (HP:0100728)	1.99506685
57	Aplasia/Hypoplasia of the patella (HP:0006498)	1.98902410
58	Atrial fibrillation (HP:0005110)	1.97486369
59	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.93870521
60	Absent forearm bone (HP:0003953)	1.92840591
61	Aplasia involving forearm bones (HP:0009822)	1.92840591
62	Retinal dysplasia (HP:0007973)	1.91040793
63	Choanal stenosis (HP:0000452)	1.87418704
64	Aortic dissection (HP:0002647)	1.85521910
65	Duplicated collecting system (HP:0000081)	1.83817640
66	Genetic anticipation (HP:0003743)	1.82592337
67	Retinal detachment (HP:0000541)	1.79721347
68	Delayed epiphyseal ossification (HP:0002663)	1.77815218
69	Exercise-induced myalgia (HP:0003738)	1.77270376
70	Cerebral aneurysm (HP:0004944)	1.76868876
71	Hypophosphatemic rickets (HP:0004912)	1.76150341
72	Aplasia/hypoplasia of the humerus (HP:0006507)	1.75668447
73	Cerebellar dysplasia (HP:0007033)	1.75095852
74	Long clavicles (HP:0000890)	1.74328608
75	Primary atrial arrhythmia (HP:0001692)	1.73450331
76	Cervical subluxation (HP:0003308)	1.73211559
77	Abnormality of the renal collecting system (HP:0004742)	1.70007504
78	Zonular cataract (HP:0010920)	1.69145533
79	Hyporeflexia of lower limbs (HP:0002600)	1.65956502
80	Dysmetric saccades (HP:0000641)	1.65369615
81	Chorioretinal atrophy (HP:0000533)	1.64751963
82	Supraventricular tachycardia (HP:0004755)	1.63679727
83	Heart block (HP:0012722)	1.62871596
84	Congenital hip dislocation (HP:0001374)	1.61424846
85	Abnormality of the thoracic spine (HP:0100711)	1.61423943
86	Abnormal atrioventricular conduction (HP:0005150)	1.61423865
87	Rectal prolapse (HP:0002035)	1.60979661
88	Supraventricular arrhythmia (HP:0005115)	1.60660633
89	Scapular winging (HP:0003691)	1.60047372
90	Sensory axonal neuropathy (HP:0003390)	1.59953246
91	Genu recurvatum (HP:0002816)	1.59838557
92	Lip pit (HP:0100267)	1.59784107
93	Long eyelashes (HP:0000527)	1.59691238
94	Thoracic kyphosis (HP:0002942)	1.58920049
95	Prolonged QT interval (HP:0001657)	1.58382245
96	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	1.58062364
97	Ureteral duplication (HP:0000073)	1.56786652
98	Shallow orbits (HP:0000586)	1.56526387
99	Lipid accumulation in hepatocytes (HP:0006561)	1.54828499
100	Muscular dystrophy (HP:0003560)	1.54487420

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	5.64206427
2	PINK1	4.51195635
3	TRIB3	3.37132510
4	LATS1	3.27622733
5	NEK2	3.01646570
6	EEF2K	2.90945539
7	MYLK	2.85014128
8	ICK	2.55812956
9	TLK1	2.49007688
10	CDK12	2.36810790
11	MARK3	2.19771633
12	ZAK	1.95533602
13	AKT3	1.84935153
14	OBSCN	1.56429123
15	MAP2K7	1.54585542
16	MELK	1.49828603
17	LATS2	1.46699274
18	CSNK1A1L	1.41911462
19	SGK494	1.35014664
20	SGK223	1.35014664
21	STK38L	1.33139135
22	FRK	1.30765841
23	STK38	1.28779386
24	MTOR	1.26647477
25	MUSK	1.24211267
26	CAMK1D	1.21772619
27	TTN	1.19548206
28	PDGFRA	1.18005158
29	PKN2	1.16743215
30	CASK	1.12934145
31	CDC42BPA	1.11106818
32	RPS6KA5	1.10810610
33	DYRK3	1.08243109
34	MAP3K10	1.07633236
35	WNK4	1.06683581
36	CAMK1G	1.02338582
37	BMPR1B	1.01554672
38	CCNB1	1.00840146
39	PDPK1	0.98475635
40	TIE1	0.96909611
41	RPS6KA2	0.90952899
42	CDK3	0.90714814
43	CSNK1G3	0.85237997
44	PAK2	0.85188357
45	MAPK11	0.83684215
46	SGK2	0.80065411
47	SIK2	0.79618625
48	RET	0.78969341
49	MARK2	0.78104535
50	IRAK2	0.76019944
51	PRKAA1	0.75888196
52	WNK1	0.75506392
53	MAPK12	0.74027358
54	INSRR	0.72660448
55	BLK	0.72231418
56	CSNK1G1	0.71579721
57	PAK1	0.69286740
58	CAMK4	0.67480347
59	DAPK3	0.66704357
60	CDK8	0.66597265
61	RPS6KB1	0.66009470
62	EPHA3	0.65847394
63	SGK3	0.64660239
64	MAP3K7	0.63091290
65	FGFR2	0.62812881
66	BRD4	0.57773583
67	ROCK1	0.57456740
68	TRPM7	0.57187525
69	AKT2	0.54311056
70	TGFBR1	0.53373125
71	SMG1	0.53284096
72	RPS6KL1	0.52028313
73	RPS6KC1	0.52028313
74	ILK	0.51258407
75	PRKD3	0.51127925
76	CSNK1G2	0.50346801
77	RPS6KA6	0.48996657
78	MET	0.47826541
79	MAP3K6	0.47734624
80	MST1R	0.42574200
81	CLK1	0.42164217
82	DDR2	0.40081354
83	ARAF	0.37792198
84	CAMK1	0.37559100
85	PRKG2	0.36995573
86	SIK1	0.36486839
87	PDGFRB	0.36292846
88	PRKAA2	0.35798557
89	CDK14	0.34001157
90	CHEK2	0.33742274
91	PRKD2	0.33048486
92	ADRBK1	0.32652154
93	PKN1	0.32335911
94	PTK2B	0.32003707
95	CSNK1D	0.31861985
96	MAPKAPK5	0.29404278
97	BMX	0.29399307
98	AURKA	0.29197534
99	RPS6KA1	0.29159306
100	CDK5	0.28912140

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	4.45741607
2	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.55747825
3	Sulfur relay system_Homo sapiens_hsa04122	2.52155059
4	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.43985164
5	Hedgehog signaling pathway_Homo sapiens_hsa04340	2.12043676
6	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.90401712
7	Circadian rhythm_Homo sapiens_hsa04710	1.79475723
8	Gap junction_Homo sapiens_hsa04540	1.79402019
9	Alcoholism_Homo sapiens_hsa05034	1.76690814
10	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.70014418
11	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.64270829
12	Lysine degradation_Homo sapiens_hsa00310	1.57065004
13	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.55741042
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.50736309
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.46112938
16	ECM-receptor interaction_Homo sapiens_hsa04512	1.44226864
17	mTOR signaling pathway_Homo sapiens_hsa04150	1.43194319
18	Olfactory transduction_Homo sapiens_hsa04740	1.40995300
19	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.33417000
20	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.32764593
21	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.31238173
22	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.27799600
23	Sphingolipid metabolism_Homo sapiens_hsa00600	1.21858845
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.21823809
25	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.20478370
26	Taste transduction_Homo sapiens_hsa04742	1.19693005
27	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.18790520
28	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.16632622
29	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.13743770
30	Arginine biosynthesis_Homo sapiens_hsa00220	1.11712194
31	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.11323341
32	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.09524044
33	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.08743548
34	Calcium signaling pathway_Homo sapiens_hsa04020	1.08644087
35	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.07827789
36	Focal adhesion_Homo sapiens_hsa04510	1.06204649
37	Hippo signaling pathway_Homo sapiens_hsa04390	1.05830872
38	Melanogenesis_Homo sapiens_hsa04916	1.02854328
39	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.95701913
40	Basal cell carcinoma_Homo sapiens_hsa05217	0.94349561
41	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.89990126
42	AMPK signaling pathway_Homo sapiens_hsa04152	0.89751832
43	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.88062879
44	Axon guidance_Homo sapiens_hsa04360	0.87452637
45	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.87288933
46	Endometrial cancer_Homo sapiens_hsa05213	0.87007974
47	Circadian entrainment_Homo sapiens_hsa04713	0.86227159
48	ABC transporters_Homo sapiens_hsa02010	0.85425690
49	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.84568851
50	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.83289040
51	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.76041279
52	Melanoma_Homo sapiens_hsa05218	0.71849856
53	Prostate cancer_Homo sapiens_hsa05215	0.71021587
54	Glioma_Homo sapiens_hsa05214	0.70333119
55	Glucagon signaling pathway_Homo sapiens_hsa04922	0.69509653
56	MicroRNAs in cancer_Homo sapiens_hsa05206	0.68921398
57	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.67984125
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.67205945
59	Renin secretion_Homo sapiens_hsa04924	0.66782479
60	VEGF signaling pathway_Homo sapiens_hsa04370	0.61745981
61	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.61618890
62	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.61603076
63	Cholinergic synapse_Homo sapiens_hsa04725	0.61531069
64	FoxO signaling pathway_Homo sapiens_hsa04068	0.61471171
65	Insulin signaling pathway_Homo sapiens_hsa04910	0.61233811
66	Non-small cell lung cancer_Homo sapiens_hsa05223	0.60875577
67	Insulin resistance_Homo sapiens_hsa04931	0.60767259
68	Cocaine addiction_Homo sapiens_hsa05030	0.60540919
69	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.60264129
70	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.59368826
71	Choline metabolism in cancer_Homo sapiens_hsa05231	0.58854893
72	Wnt signaling pathway_Homo sapiens_hsa04310	0.57715461
73	Other glycan degradation_Homo sapiens_hsa00511	0.57193308
74	Notch signaling pathway_Homo sapiens_hsa04330	0.56500059
75	Nitrogen metabolism_Homo sapiens_hsa00910	0.56262390
76	Salivary secretion_Homo sapiens_hsa04970	0.55614143
77	Glutamatergic synapse_Homo sapiens_hsa04724	0.54356967
78	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.53690220
79	Estrogen signaling pathway_Homo sapiens_hsa04915	0.53235066
80	Chemical carcinogenesis_Homo sapiens_hsa05204	0.52927817
81	cAMP signaling pathway_Homo sapiens_hsa04024	0.50380336
82	Type II diabetes mellitus_Homo sapiens_hsa04930	0.50303760
83	Small cell lung cancer_Homo sapiens_hsa05222	0.50119134
84	Adherens junction_Homo sapiens_hsa04520	0.49619776
85	Gastric acid secretion_Homo sapiens_hsa04971	0.48425567
86	Protein digestion and absorption_Homo sapiens_hsa04974	0.48210647
87	Oocyte meiosis_Homo sapiens_hsa04114	0.47785252
88	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.47601156
89	Bladder cancer_Homo sapiens_hsa05219	0.47007615
90	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.46992539
91	Tight junction_Homo sapiens_hsa04530	0.46271672
92	MAPK signaling pathway_Homo sapiens_hsa04010	0.46232731
93	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.46069034
94	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.45626069
95	PPAR signaling pathway_Homo sapiens_hsa03320	0.44572956
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.43787899
97	Bile secretion_Homo sapiens_hsa04976	0.42365679
98	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.41204673
99	Apoptosis_Homo sapiens_hsa04210	0.41203703
100	Phenylalanine metabolism_Homo sapiens_hsa00360	0.40865309

CSPG4P11

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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