ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	muscle filament sliding (GO:0030049)	9.38582652
2	actin-myosin filament sliding (GO:0033275)	9.38582652
3	sarcoplasmic reticulum calcium ion transport (GO:0070296)	7.48319643
4	actin-mediated cell contraction (GO:0070252)	7.40800400
5	skeletal muscle contraction (GO:0003009)	7.28902955
6	regulation of skeletal muscle contraction (GO:0014819)	6.53358685
7	sarcomere organization (GO:0045214)	6.40059580
8	striated muscle contraction (GO:0006941)	5.72966244
9	myofibril assembly (GO:0030239)	5.70962352
10	creatine metabolic process (GO:0006600)	5.52999799
11	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	5.30056772
12	actin filament-based movement (GO:0030048)	5.13616960
13	regulation of relaxation of muscle (GO:1901077)	5.02657692
14	muscle cell fate commitment (GO:0042693)	4.94851940
15	cardiac myofibril assembly (GO:0055003)	4.94112711
16	skeletal muscle fiber development (GO:0048741)	4.86963115
17	cardiac muscle contraction (GO:0060048)	4.72193083
18	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	4.68558609
19	response to muscle activity (GO:0014850)	4.65921005
20	response to inactivity (GO:0014854)	4.58455473
21	skeletal muscle adaptation (GO:0043501)	4.43768736
22	myotube cell development (GO:0014904)	4.21717044
23	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	4.21656265
24	muscle organ morphogenesis (GO:0048644)	4.18545292
25	actomyosin structure organization (GO:0031032)	4.14115995
26	muscle contraction (GO:0006936)	3.94998634
27	striated muscle atrophy (GO:0014891)	3.86908121
28	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.86278515
29	ubiquinone biosynthetic process (GO:0006744)	3.85303943
30	muscle tissue morphogenesis (GO:0060415)	3.81299018
31	regulation of actin filament-based movement (GO:1903115)	3.80526295
32	cardiac muscle tissue morphogenesis (GO:0055008)	3.71980124
33	NADH metabolic process (GO:0006734)	3.69672234
34	positive regulation of myotube differentiation (GO:0010831)	3.59059931
35	muscle fiber development (GO:0048747)	3.56710255
36	muscle system process (GO:0003012)	3.56378606
37	2-oxoglutarate metabolic process (GO:0006103)	3.53886694
38	glycogen biosynthetic process (GO:0005978)	3.52951887
39	glucan biosynthetic process (GO:0009250)	3.52951887
40	striated muscle adaptation (GO:0014888)	3.48982633
41	cardiac muscle hypertrophy (GO:0003300)	3.46897799
42	muscle atrophy (GO:0014889)	3.44017870
43	adult heart development (GO:0007512)	3.43604556
44	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.41704737
45	negative regulation of cell size (GO:0045792)	3.40494833
46	heart process (GO:0003015)	3.40189223
47	heart contraction (GO:0060047)	3.40189223
48	gluconeogenesis (GO:0006094)	3.37438329
49	muscle cell cellular homeostasis (GO:0046716)	3.34536624
50	glycogen catabolic process (GO:0005980)	3.32147814
51	ubiquinone metabolic process (GO:0006743)	3.30050480
52	striated muscle hypertrophy (GO:0014897)	3.28407746
53	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.27786233
54	mitochondrial fusion (GO:0008053)	3.27485528
55	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	3.18945190
56	skeletal muscle tissue development (GO:0007519)	3.18912241
57	tricarboxylic acid cycle (GO:0006099)	3.17750532
58	muscle organ development (GO:0007517)	3.13466656
59	muscle structure development (GO:0061061)	3.08915280
60	regulation of striated muscle contraction (GO:0006942)	3.07191271
61	hexose biosynthetic process (GO:0019319)	3.06566760
62	striated muscle cell development (GO:0055002)	3.05684363
63	plasma membrane repair (GO:0001778)	3.02926009
64	muscle adaptation (GO:0043500)	3.02662876
65	negative regulation of potassium ion transmembrane transport (GO:1901380)	3.01649246
66	ventricular cardiac muscle tissue morphogenesis (GO:0055010)	3.01083135
67	negative regulation of necroptotic process (GO:0060546)	2.96771844
68	muscle hypertrophy (GO:0014896)	2.96283121
69	DNA replication checkpoint (GO:0000076)	2.92903699
70	pseudouridine synthesis (GO:0001522)	2.92610927
71	glucan catabolic process (GO:0009251)	2.92205246
72	regulation of the force of heart contraction (GO:0002026)	2.90390930
73	iron-sulfur cluster assembly (GO:0016226)	2.85868168
74	metallo-sulfur cluster assembly (GO:0031163)	2.85868168
75	cardiac muscle cell development (GO:0055013)	2.85667308
76	aspartate family amino acid catabolic process (GO:0009068)	2.84756109
77	transcription from mitochondrial promoter (GO:0006390)	2.81194494
78	protein insertion into membrane (GO:0051205)	2.79487111
79	positive regulation of cation channel activity (GO:2001259)	2.78386851
80	carnitine shuttle (GO:0006853)	2.77902604
81	oxidative phosphorylation (GO:0006119)	2.77327241
82	peptidyl-arginine omega-N-methylation (GO:0035247)	2.77319774
83	response to activity (GO:0014823)	2.75311941
84	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	2.71414508
85	monosaccharide biosynthetic process (GO:0046364)	2.70336047
86	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.67337505
87	skeletal muscle cell differentiation (GO:0035914)	2.67199823
88	regulation of mitochondrial translation (GO:0070129)	2.66621994
89	regulation of ATPase activity (GO:0043462)	2.65282399
90	regulation of ATP catabolic process (GO:1903289)	2.65282399
91	quinone biosynthetic process (GO:1901663)	2.64370958
92	regulation of cell communication by electrical coupling (GO:0010649)	2.63680319
93	regulation of membrane repolarization (GO:0060306)	2.63024596
94	mitochondrial genome maintenance (GO:0000002)	2.62663268
95	muscle cell development (GO:0055001)	2.60884943
96	cellular polysaccharide catabolic process (GO:0044247)	2.60065654
97	mitochondrial RNA metabolic process (GO:0000959)	2.59861803
98	cardiac cell development (GO:0055006)	2.58338465
99	fatty acid transmembrane transport (GO:1902001)	2.55263494
100	striated muscle tissue development (GO:0014706)	2.55170631

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.69947997
2	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.89564502
3	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.85120095
4	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.74252516
5	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.70119345
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.46483774
7	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.31668338
8	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.31297009
9	VDR_21846776_ChIP-Seq_THP-1_Human	2.28681626
10	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	2.27676531
11	MYC_22102868_ChIP-Seq_BL_Human	2.19714467
12	LXR_22292898_ChIP-Seq_THP-1_Human	2.12464460
13	TET1_21451524_ChIP-Seq_MESCs_Mouse	2.10329952
14	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.09482884
15	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.02538518
16	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	2.01407902
17	P68_20966046_ChIP-Seq_HELA_Human	1.99659747
18	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.95777678
19	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.88468363
20	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.79825300
21	XRN2_22483619_ChIP-Seq_HELA_Human	1.79505625
22	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.72297939
23	GABP_19822575_ChIP-Seq_HepG2_Human	1.70680674
24	* ELF1_20517297_ChIP-Seq_JURKAT_Human	1.68396287
25	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.67795026
26	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.65349020
27	RACK7_27058665_Chip-Seq_MCF-7_Human	1.64715957
28	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.64128835
29	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.61950504
30	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.61640931
31	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.61463304
32	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.58228645
33	BCOR_27268052_Chip-Seq_Bcells_Human	1.57371224
34	DCP1A_22483619_ChIP-Seq_HELA_Human	1.56663956
35	ZNF263_19887448_ChIP-Seq_K562_Human	1.55423839
36	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.53323503
37	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.53227257
38	* BCL6_27268052_Chip-Seq_Bcells_Human	1.52068795
39	KDM5A_27292631_Chip-Seq_BREAST_Human	1.51628737
40	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.50467665
41	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.48213348
42	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.45089356
43	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.44425260
44	PHF8_20622854_ChIP-Seq_HELA_Human	1.43159355
45	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.42336542
46	E2F1_20622854_ChIP-Seq_HELA_Human	1.42334679
47	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.41653919
48	CTCF_21964334_Chip-Seq_Bcells_Human	1.41497395
49	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.41468810
50	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.40593044
51	CIITA_25753668_ChIP-Seq_RAJI_Human	1.39525386
52	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.39499015
53	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.38627876
54	KDM2B_26808549_Chip-Seq_DND41_Human	1.35153178
55	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.34823018
56	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.34686890
57	SA1_27219007_Chip-Seq_Bcells_Human	1.34058750
58	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.33746229
59	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.33176630
60	SMC4_20622854_ChIP-Seq_HELA_Human	1.32960923
61	TBX5_21415370_ChIP-Seq_HL-1_Mouse	1.30294959
62	E2F7_22180533_ChIP-Seq_HELA_Human	1.30021827
63	* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.29733142
64	MAF_26560356_Chip-Seq_TH2_Human	1.29727929
65	CTCF_27219007_Chip-Seq_Bcells_Human	1.27898991
66	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.27343583
67	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.27205929
68	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.26613514
69	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.26454265
70	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.25030355
71	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.23184056
72	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.22871006
73	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.21712451
74	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.20720891
75	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.20557598
76	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.19269227
77	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.18867590
78	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.16149524
79	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.15973896
80	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	1.15952914
81	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.15579139
82	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.13736787
83	EZH2_22144423_ChIP-Seq_EOC_Human	1.13666171
84	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.13279446
85	FOXP3_21729870_ChIP-Seq_TREG_Human	1.12887319
86	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.12769743
87	CREB1_26743006_Chip-Seq_LNCaP_Human	1.09614318
88	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.09448860
89	TCF7_22412390_ChIP-Seq_EML_Mouse	1.09334039
90	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.08641097
91	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.08450716
92	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.07633689
93	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.07243384
94	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.07076619
95	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.06822883
96	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	1.06332966
97	ATF3_27146783_Chip-Seq_COLON_Human	1.06131359
98	MAF_26560356_Chip-Seq_TH1_Human	1.06109725
99	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.03433985
100	PU.1_20513432_ChIP-Seq_Bcells_Mouse	1.03341778

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	6.20170797
2	MP0004145_abnormal_muscle_electrophysio	5.42164129
3	MP0000751_myopathy	4.95581418
4	MP0000749_muscle_degeneration	4.59209151
5	MP0005451_abnormal_body_composition	4.26415551
6	MP0002837_dystrophic_cardiac_calcinosis	4.00198273
7	MP0004036_abnormal_muscle_relaxation	3.83384953
8	MP0004084_abnormal_cardiac_muscle	3.52641800
9	MP0004233_abnormal_muscle_weight	3.46621205
10	MP0002106_abnormal_muscle_physiology	3.15672583
11	MP0000759_abnormal_skeletal_muscle	3.14807199
12	MP0000750_abnormal_muscle_regeneration	3.05368826
13	MP0005330_cardiomyopathy	3.00731103
14	MP0004087_abnormal_muscle_fiber	2.99200140
15	MP0000747_muscle_weakness	2.95214773
16	MP0002269_muscular_atrophy	2.82222944
17	MP0005369_muscle_phenotype	2.56277004
18	MP0000733_abnormal_muscle_development	2.39367112
19	MP0004130_abnormal_muscle_cell	2.31982566
20	MP0002332_abnormal_exercise_endurance	2.31697423
21	MP0005620_abnormal_muscle_contractility	2.17463088
22	MP0006036_abnormal_mitochondrial_physio	2.09043336
23	MP0004215_abnormal_myocardial_fiber	2.08181087
24	MP0002972_abnormal_cardiac_muscle	1.92336568
25	MP0004185_abnormal_adipocyte_glucose	1.62954463
26	MP0002127_abnormal_cardiovascular_syste	1.57859853
27	MP0010630_abnormal_cardiac_muscle	1.54542646
28	MP0001661_extended_life_span	1.54273791
29	MP0006138_congestive_heart_failure	1.52838222
30	MP0000013_abnormal_adipose_tissue	1.51226186
31	MP0000003_abnormal_adipose_tissue	1.47461883
32	MP0004510_myositis	1.43052527
33	MP0002234_abnormal_pharynx_morphology	1.42503325
34	MP0005670_abnormal_white_adipose	1.40037354
35	MP0003137_abnormal_impulse_conducting	1.39119826
36	MP0003693_abnormal_embryo_hatching	1.35096741
37	MP0005385_cardiovascular_system_phenoty	1.32921137
38	MP0001544_abnormal_cardiovascular_syste	1.32921137
39	MP0005266_abnormal_metabolism	1.29380230
40	MP0010030_abnormal_orbit_morphology	1.20380114
41	MP0000678_abnormal_parathyroid_gland	1.19184103
42	MP0008775_abnormal_heart_ventricle	1.18888504
43	MP0005375_adipose_tissue_phenotype	1.13745030
44	MP0002249_abnormal_larynx_morphology	1.12440250
45	MP0002108_abnormal_muscle_morphology	1.11522128
46	MP0003221_abnormal_cardiomyocyte_apopto	1.04656382
47	MP0001346_abnormal_lacrimal_gland	1.04537861
48	MP0004484_altered_response_of	1.01185462
49	MP0009840_abnormal_foam_cell	0.99551207
50	MP0005666_abnormal_adipose_tissue	0.98968578
51	MP0006035_abnormal_mitochondrial_morpho	0.94576639
52	MP0002254_reproductive_system_inflammat	0.94167120
53	MP0003111_abnormal_nucleus_morphology	0.88936775
54	MP0010094_abnormal_chromosome_stability	0.76834070
55	MP0002163_abnormal_gland_morphology	0.73178559
56	MP0003786_premature_aging	0.70586763
57	MP0009333_abnormal_splenocyte_physiolog	0.69751026
58	MP0004085_abnormal_heartbeat	0.69186661
59	MP0000266_abnormal_heart_morphology	0.65511572
60	MP0000049_abnormal_middle_ear	0.65098003
61	MP0008058_abnormal_DNA_repair	0.62358570
62	MP0005645_abnormal_hypothalamus_physiol	0.60830290
63	MP0003828_pulmonary_edema	0.60806819
64	MP0001727_abnormal_embryo_implantation	0.60671673
65	MP0005076_abnormal_cell_differentiation	0.59897577
66	MP0001730_embryonic_growth_arrest	0.59307070
67	MP0003950_abnormal_plasma_membrane	0.56336016
68	MP0003806_abnormal_nucleotide_metabolis	0.55957395
69	MP0003077_abnormal_cell_cycle	0.54258226
70	MP0008260_abnormal_autophagy	0.53671365
71	MP0008932_abnormal_embryonic_tissue	0.52777410
72	MP0001502_abnormal_circadian_rhythm	0.51773051
73	MP0004043_abnormal_pH_regulation	0.51495914
74	MP0005058_abnormal_lysosome_morphology	0.49340509
75	MP0002653_abnormal_ependyma_morphology	0.46347266
76	MP0008789_abnormal_olfactory_epithelium	0.46243982
77	MP0003879_abnormal_hair_cell	0.45588274
78	MP0003045_fibrosis	0.44838535
79	MP0003705_abnormal_hypodermis_morpholog	0.44826821
80	MP0002971_abnormal_brown_adipose	0.43041951
81	MP0005452_abnormal_adipose_tissue	0.42706652
82	MP0002160_abnormal_reproductive_system	0.42623648
83	MP0003959_abnormal_lean_body	0.38558540
84	MP0002876_abnormal_thyroid_physiology	0.38536498
85	MP0000358_abnormal_cell_content/	0.36864210
86	MP0002114_abnormal_axial_skeleton	0.36564629
87	MP0002877_abnormal_melanocyte_morpholog	0.36209467
88	MP0008961_abnormal_basal_metabolism	0.35448165
89	MP0005319_abnormal_enzyme/_coenzyme	0.35312172
90	MP0004197_abnormal_fetal_growth/weight/	0.35094685
91	MP0000681_abnormal_thyroid_gland	0.33572202
92	MP0008007_abnormal_cellular_replicative	0.33232861
93	MP0000762_abnormal_tongue_morphology	0.33134539
94	MP0001849_ear_inflammation	0.32370620
95	MP0000313_abnormal_cell_death	0.32249738
96	MP0000467_abnormal_esophagus_morphology	0.32001815
97	MP0000372_irregular_coat_pigmentation	0.31962561
98	MP0001873_stomach_inflammation	0.31908959
99	MP0005083_abnormal_biliary_tract	0.31316970
100	MP0003984_embryonic_growth_retardation	0.31145976

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Muscle fiber inclusion bodies (HP:0100299)	8.93803761
2	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	8.78386308
3	Nemaline bodies (HP:0003798)	8.59493550
4	Exercise-induced myalgia (HP:0003738)	6.76666354
5	Type 1 muscle fiber predominance (HP:0003803)	6.51402920
6	Exercise-induced muscle cramps (HP:0003710)	5.29002836
7	Myopathic facies (HP:0002058)	5.28819229
8	Muscle hypertrophy of the lower extremities (HP:0008968)	5.27876571
9	Calf muscle hypertrophy (HP:0008981)	4.93782281
10	EMG: myopathic abnormalities (HP:0003458)	4.72774301
11	Distal arthrogryposis (HP:0005684)	4.58067425
12	Abnormality of the calf musculature (HP:0001430)	4.45313163
13	Round ear (HP:0100830)	4.36260918
14	Muscle fiber splitting (HP:0003555)	4.31779411
15	Hyporeflexia of lower limbs (HP:0002600)	4.30391308
16	Ulnar deviation of the wrist (HP:0003049)	4.16403876
17	Centrally nucleated skeletal muscle fibers (HP:0003687)	4.04203552
18	Myoglobinuria (HP:0002913)	3.93393108
19	Rhabdomyolysis (HP:0003201)	3.84853710
20	Distal lower limb muscle weakness (HP:0009053)	3.82250721
21	Sudden death (HP:0001699)	3.77678725
22	Abnormality of the left ventricular outflow tract (HP:0011103)	3.70037543
23	Subaortic stenosis (HP:0001682)	3.70037543
24	Progressive muscle weakness (HP:0003323)	3.61038495
25	Bundle branch block (HP:0011710)	3.59689825
26	Neck muscle weakness (HP:0000467)	3.55857014
27	Abnormality of skeletal muscle fiber size (HP:0012084)	3.39664845
28	Asymmetric septal hypertrophy (HP:0001670)	3.39049899
29	Calcaneovalgus deformity (HP:0001848)	3.32192941
30	Increased connective tissue (HP:0009025)	3.25548051
31	Rimmed vacuoles (HP:0003805)	3.23249613
32	Ragged-red muscle fibers (HP:0003200)	3.10305716
33	Deformed tarsal bones (HP:0008119)	3.09204710
34	Bulbar palsy (HP:0001283)	3.05825271
35	Areflexia of lower limbs (HP:0002522)	3.00815417
36	Distal lower limb amyotrophy (HP:0008944)	3.00772887
37	Muscle stiffness (HP:0003552)	2.99626606
38	Ventricular tachycardia (HP:0004756)	2.96841859
39	Malignant hyperthermia (HP:0002047)	2.94736353
40	EMG: neuropathic changes (HP:0003445)	2.94172298
41	Increased variability in muscle fiber diameter (HP:0003557)	2.85442312
42	Absent phalangeal crease (HP:0006109)	2.78585384
43	Generalized muscle weakness (HP:0003324)	2.77635759
44	Frequent falls (HP:0002359)	2.77600575
45	Difficulty climbing stairs (HP:0003551)	2.73408348
46	Mildly elevated creatine phosphokinase (HP:0008180)	2.65883081
47	Dilated cardiomyopathy (HP:0001644)	2.65856406
48	Lipoatrophy (HP:0100578)	2.64776172
49	Limb-girdle muscle atrophy (HP:0003797)	2.55761671
50	Fetal akinesia sequence (HP:0001989)	2.45309925
51	Weak cry (HP:0001612)	2.40524321
52	Fatigable weakness (HP:0003473)	2.34756115
53	Abnormality of the neuromuscular junction (HP:0003398)	2.34756115
54	Myotonia (HP:0002486)	2.33057606
55	Difficulty running (HP:0009046)	2.30078114
56	Muscle fiber atrophy (HP:0100295)	2.29781959
57	Heart block (HP:0012722)	2.26648803
58	Abnormal atrioventricular conduction (HP:0005150)	2.24479034
59	Scapular winging (HP:0003691)	2.21121871
60	Abnormal finger flexion creases (HP:0006143)	2.20068884
61	Exercise intolerance (HP:0003546)	2.18127891
62	Increased intramyocellular lipid droplets (HP:0012240)	2.15933556
63	Increased muscle lipid content (HP:0009058)	2.14460294
64	Gowers sign (HP:0003391)	2.13868904
65	Type 2 muscle fiber atrophy (HP:0003554)	2.11140348
66	Ventricular arrhythmia (HP:0004308)	2.04787957
67	Easy fatigability (HP:0003388)	2.04543463
68	Popliteal pterygium (HP:0009756)	2.01289519
69	Lower limb amyotrophy (HP:0007210)	2.00328857
70	Waddling gait (HP:0002515)	1.99934622
71	Spinal rigidity (HP:0003306)	1.93828364
72	Muscular dystrophy (HP:0003560)	1.89917501
73	Slender build (HP:0001533)	1.85306380
74	Supraventricular tachycardia (HP:0004755)	1.84586271
75	Stridor (HP:0010307)	1.84485616
76	Left ventricular hypertrophy (HP:0001712)	1.81394809
77	Abnormality of the calcaneus (HP:0008364)	1.80814063
78	Hip contracture (HP:0003273)	1.79561735
79	Type II lissencephaly (HP:0007260)	1.79057661
80	Severe muscular hypotonia (HP:0006829)	1.77953856
81	Supraventricular arrhythmia (HP:0005115)	1.75288373
82	Atrial fibrillation (HP:0005110)	1.75195330
83	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.73879489
84	Congenital malformation of the right heart (HP:0011723)	1.73726999
85	Double outlet right ventricle (HP:0001719)	1.73726999
86	Abnormality of the shoulder girdle musculature (HP:0001435)	1.71124235
87	Primary atrial arrhythmia (HP:0001692)	1.69073436
88	Syncope (HP:0001279)	1.67402555
89	Large for gestational age (HP:0001520)	1.67148112
90	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.66400542
91	Abnormal mitochondria in muscle tissue (HP:0008316)	1.65795926
92	Abnormality of the foot musculature (HP:0001436)	1.63006227
93	Prolonged QT interval (HP:0001657)	1.61554276
94	Hyperkalemia (HP:0002153)	1.59527774
95	Lactic acidosis (HP:0003128)	1.57947385
96	Achilles tendon contracture (HP:0001771)	1.57643780
97	Increased serum lactate (HP:0002151)	1.55966862
98	Metatarsus adductus (HP:0001840)	1.55287450
99	Foot dorsiflexor weakness (HP:0009027)	1.53327267
100	Hypoplastic heart (HP:0001961)	1.53093678

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	6.52137866
2	TTN	4.74984578
3	PHKG2	4.27031156
4	PHKG1	4.27031156
5	TRIB3	4.01393429
6	MUSK	2.81585144
7	IRAK3	2.56874849
8	EEF2K	2.24944250
9	NME1	2.23557584
10	TLK1	2.15072390
11	MAPKAPK3	2.13166161
12	MAP2K3	2.02330123
13	SMG1	1.99542970
14	BCKDK	1.91576478
15	MAPK12	1.78951447
16	ICK	1.75448692
17	VRK2	1.63926519
18	STK16	1.55435808
19	PIK3CG	1.55175961
20	MAPK11	1.50695546
21	PINK1	1.44150487
22	NME2	1.43294604
23	ARAF	1.34729754
24	BUB1	1.30413347
25	SIK1	1.29400315
26	AKT2	1.11190560
27	MAP3K11	1.06654146
28	DMPK	1.04104203
29	LIMK1	1.00565718
30	ZAK	0.99776328
31	MAP3K7	0.99583962
32	CDK12	0.97205109
33	TAOK2	0.95302318
34	MAP2K6	0.93528251
35	MAP2K2	0.89403547
36	IRAK2	0.88442993
37	IRAK4	0.87512380
38	PIM2	0.85289374
39	BRAF	0.83109910
40	TBK1	0.81505342
41	MOS	0.76873808
42	PRKAA1	0.75760521
43	PRKCI	0.74216780
44	TESK1	0.73907682
45	MAP3K3	0.72375455
46	RPS6KA6	0.71964074
47	RPS6KL1	0.71478781
48	RPS6KC1	0.71478781
49	MAP3K13	0.71197103
50	PRKD3	0.70697268
51	TRPM7	0.69995010
52	IKBKB	0.69979313
53	TESK2	0.69234099
54	AURKA	0.68973698
55	RPS6KA2	0.60096076
56	TAOK1	0.59310855
57	ERN1	0.57867898
58	MAPK4	0.57110786
59	PRKAA2	0.56888668
60	CHEK2	0.55874327
61	CDK7	0.53414133
62	DAPK3	0.52898003
63	CAMK2G	0.52677965
64	ILK	0.52183020
65	CCNB1	0.51582395
66	MTOR	0.50073777
67	MAP2K1	0.48519301
68	ABL2	0.48373733
69	CAMK2D	0.48246132
70	CDK4	0.47961657
71	RPS6KA1	0.47733086
72	PKN1	0.46879859
73	PDPK1	0.46725763
74	PDK2	0.46001313
75	RPS6KB2	0.45565479
76	PRKD2	0.45233492
77	CAMK4	0.45090670
78	TNK2	0.44521456
79	CHUK	0.42612893
80	MAP3K8	0.40119151
81	MAP3K1	0.39539528
82	STK4	0.39083024
83	CDC42BPA	0.38408941
84	RPS6KA5	0.36723912
85	DYRK1B	0.36395386
86	NEK1	0.36306010
87	CSNK1G3	0.34136712
88	PRPF4B	0.33826416
89	DAPK1	0.33661648
90	MAPKAPK2	0.30502190
91	PKN2	0.30479938
92	CDK8	0.30015631
93	NEK9	0.29293609
94	SIK2	0.29268525
95	MAP2K4	0.29166788
96	DYRK3	0.26050958
97	KDR	0.25972124
98	EPHA2	0.25944837
99	IRAK1	0.25400755
100	MAP3K10	0.25351076

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	4.75952220
2	Sulfur relay system_Homo sapiens_hsa04122	4.12805311
3	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.66574904
4	Cardiac muscle contraction_Homo sapiens_hsa04260	3.46182875
5	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	3.02408238
6	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.82006798
7	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.78963122
8	Pentose phosphate pathway_Homo sapiens_hsa00030	1.92389015
9	Parkinsons disease_Homo sapiens_hsa05012	1.90131849
10	Base excision repair_Homo sapiens_hsa03410	1.85258033
11	Carbon metabolism_Homo sapiens_hsa01200	1.82915055
12	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.78417062
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.78323831
14	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.75650794
15	RNA polymerase_Homo sapiens_hsa03020	1.73708664
16	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.68337792
17	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.64643126
18	Arginine and proline metabolism_Homo sapiens_hsa00330	1.63169017
19	DNA replication_Homo sapiens_hsa03030	1.59209772
20	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.54829519
21	Glucagon signaling pathway_Homo sapiens_hsa04922	1.39523078
22	Alzheimers disease_Homo sapiens_hsa05010	1.38581296
23	Insulin signaling pathway_Homo sapiens_hsa04910	1.38577643
24	Pyrimidine metabolism_Homo sapiens_hsa00240	1.34353084
25	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.34095554
26	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.28549333
27	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.26823216
28	Circadian rhythm_Homo sapiens_hsa04710	1.23755479
29	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.20634542
30	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.19976344
31	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.17706540
32	Homologous recombination_Homo sapiens_hsa03440	1.17551191
33	Huntingtons disease_Homo sapiens_hsa05016	1.17054262
34	AMPK signaling pathway_Homo sapiens_hsa04152	1.14913598
35	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.14009558
36	Insulin resistance_Homo sapiens_hsa04931	1.12104743
37	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.08004958
38	Purine metabolism_Homo sapiens_hsa00230	1.07744911
39	Selenocompound metabolism_Homo sapiens_hsa00450	1.06273842
40	Basal transcription factors_Homo sapiens_hsa03022	0.97842456
41	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.96278857
42	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.95292508
43	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.93055953
44	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.90963194
45	Pyruvate metabolism_Homo sapiens_hsa00620	0.89984615
46	Lysine degradation_Homo sapiens_hsa00310	0.85935468
47	Bladder cancer_Homo sapiens_hsa05219	0.85396098
48	Galactose metabolism_Homo sapiens_hsa00052	0.84995260
49	Sulfur metabolism_Homo sapiens_hsa00920	0.84837958
50	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.81370993
51	Calcium signaling pathway_Homo sapiens_hsa04020	0.81291661
52	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.80539852
53	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.79159345
54	RNA transport_Homo sapiens_hsa03013	0.78963752
55	Nucleotide excision repair_Homo sapiens_hsa03420	0.77818790
56	Proteasome_Homo sapiens_hsa03050	0.75745662
57	One carbon pool by folate_Homo sapiens_hsa00670	0.75509169
58	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.74843778
59	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.73618551
60	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.73029478
61	VEGF signaling pathway_Homo sapiens_hsa04370	0.72737435
62	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.72272353
63	Arginine biosynthesis_Homo sapiens_hsa00220	0.69552867
64	Fanconi anemia pathway_Homo sapiens_hsa03460	0.68996326
65	Folate biosynthesis_Homo sapiens_hsa00790	0.66935540
66	Phenylalanine metabolism_Homo sapiens_hsa00360	0.65252168
67	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.63158424
68	Regulation of autophagy_Homo sapiens_hsa04140	0.62591557
69	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.62578145
70	Notch signaling pathway_Homo sapiens_hsa04330	0.59363253
71	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.58105218
72	Mismatch repair_Homo sapiens_hsa03430	0.58008485
73	Acute myeloid leukemia_Homo sapiens_hsa05221	0.54322038
74	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.51301099
75	Fatty acid elongation_Homo sapiens_hsa00062	0.50011358
76	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.48969542
77	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.46619997
78	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.45826819
79	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.44578206
80	mTOR signaling pathway_Homo sapiens_hsa04150	0.43470333
81	Spliceosome_Homo sapiens_hsa03040	0.42995332
82	Metabolic pathways_Homo sapiens_hsa01100	0.42336682
83	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.41421008
84	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.38740310
85	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.38530599
86	mRNA surveillance pathway_Homo sapiens_hsa03015	0.38275456
87	Cell cycle_Homo sapiens_hsa04110	0.34687901
88	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.34277923
89	Ribosome_Homo sapiens_hsa03010	0.33399344
90	Viral carcinogenesis_Homo sapiens_hsa05203	0.32947014
91	MAPK signaling pathway_Homo sapiens_hsa04010	0.30614667
92	p53 signaling pathway_Homo sapiens_hsa04115	0.30177218
93	Oocyte meiosis_Homo sapiens_hsa04114	0.29522707
94	Propanoate metabolism_Homo sapiens_hsa00640	0.28894303
95	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.28554747
96	GnRH signaling pathway_Homo sapiens_hsa04912	0.28386929
97	RNA degradation_Homo sapiens_hsa03018	0.26661997
98	Non-small cell lung cancer_Homo sapiens_hsa05223	0.26016202
99	FoxO signaling pathway_Homo sapiens_hsa04068	0.25966435
100	Tryptophan metabolism_Homo sapiens_hsa00380	0.25639704

C19ORF47

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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