ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	muscle filament sliding (GO:0030049)	6.72603773
2	actin-myosin filament sliding (GO:0033275)	6.72603773
3	regulation of skeletal muscle contraction (GO:0014819)	6.20123998
4	actin-mediated cell contraction (GO:0070252)	5.44811435
5	interferon-gamma secretion (GO:0072643)	5.33537827
6	regulation of mitochondrial translation (GO:0070129)	5.20469275
7	skeletal muscle contraction (GO:0003009)	4.83163621
8	maturation of SSU-rRNA (GO:0030490)	4.79599929
9	folic acid metabolic process (GO:0046655)	4.66234406
10	oxidative phosphorylation (GO:0006119)	4.61282864
11	tricarboxylic acid cycle (GO:0006099)	4.48257823
12	carnitine shuttle (GO:0006853)	4.33038954
13	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.31690170
14	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.27902142
15	sarcomere organization (GO:0045214)	4.26683819
16	formation of translation preinitiation complex (GO:0001731)	4.23155836
17	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	4.22790647
18	purine nucleotide salvage (GO:0032261)	4.19766280
19	plasma membrane repair (GO:0001778)	4.18702590
20	ribosomal large subunit biogenesis (GO:0042273)	4.17160389
21	NADH metabolic process (GO:0006734)	4.15950621
22	ribosomal small subunit assembly (GO:0000028)	4.06538533
23	folic acid transport (GO:0015884)	4.04624077
24	skeletal muscle adaptation (GO:0043501)	4.04187299
25	IMP metabolic process (GO:0046040)	3.99100032
26	skeletal muscle tissue regeneration (GO:0043403)	3.95571113
27	purine nucleobase biosynthetic process (GO:0009113)	3.92867943
28	actin filament-based movement (GO:0030048)	3.86360240
29	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	3.85916853
30	nucleobase biosynthetic process (GO:0046112)	3.77739282
31	quinone biosynthetic process (GO:1901663)	3.77547028
32	ubiquinone biosynthetic process (GO:0006744)	3.77547028
33	regulation of acyl-CoA biosynthetic process (GO:0050812)	3.77230595
34	fatty acid transmembrane transport (GO:1902001)	3.69498459
35	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.66223678
36	ATP synthesis coupled proton transport (GO:0015986)	3.66223678
37	creatine metabolic process (GO:0006600)	3.56766799
38	regulation of cofactor metabolic process (GO:0051193)	3.56682962
39	regulation of coenzyme metabolic process (GO:0051196)	3.56682962
40	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	3.56158563
41	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.55083648
42	galactose catabolic process (GO:0019388)	3.53620319
43	ribosomal small subunit biogenesis (GO:0042274)	3.51275941
44	IMP biosynthetic process (GO:0006188)	3.47897281
45	respiratory electron transport chain (GO:0022904)	3.44927100
46	intestinal epithelial cell development (GO:0060576)	3.41470244
47	translational termination (GO:0006415)	3.40075556
48	ribosome assembly (GO:0042255)	3.38997424
49	striated muscle contraction (GO:0006941)	3.38116009
50	myofibril assembly (GO:0030239)	3.35336976
51	viral transcription (GO:0019083)	3.35117576
52	electron transport chain (GO:0022900)	3.33760398
53	carnitine transmembrane transport (GO:1902603)	3.31534814
54	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.30639873
55	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.28604708
56	AMP metabolic process (GO:0046033)	3.28401590
57	skeletal muscle fiber development (GO:0048741)	3.27084920
58	translational initiation (GO:0006413)	3.20125438
59	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	3.19252277
60	ubiquinone metabolic process (GO:0006743)	3.17921677
61	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	3.14632263
62	translational elongation (GO:0006414)	3.12868761
63	proteasome assembly (GO:0043248)	3.12241886
64	carnitine transport (GO:0015879)	3.08000894
65	amino-acid betaine transport (GO:0015838)	3.08000894
66	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	3.07631304
67	nucleobase-containing small molecule interconversion (GO:0015949)	3.07001794
68	ribonucleoprotein complex biogenesis (GO:0022613)	3.06455727
69	labyrinthine layer development (GO:0060711)	3.05884811
70	regulation of cellular amino acid metabolic process (GO:0006521)	3.00820424
71	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.96922073
72	negative regulation of ligase activity (GO:0051352)	2.96922073
73	glycogen catabolic process (GO:0005980)	2.96701634
74	rRNA modification (GO:0000154)	2.96184375
75	regulation of sulfur metabolic process (GO:0042762)	2.92665287
76	negative regulation of potassium ion transmembrane transport (GO:1901380)	2.87316818
77	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	2.86188898
78	positive regulation of ligase activity (GO:0051351)	2.85487473
79	actomyosin structure organization (GO:0031032)	2.82302659
80	mitotic metaphase plate congression (GO:0007080)	2.80074769
81	nucleoside diphosphate biosynthetic process (GO:0009133)	2.79325173
82	fructose metabolic process (GO:0006000)	2.79169063
83	glucan catabolic process (GO:0009251)	2.77410028
84	purine ribonucleoside monophosphate biosynthetic process (GO:0009168)	2.76510509
85	purine nucleoside monophosphate biosynthetic process (GO:0009127)	2.76510509
86	cardiac muscle cell development (GO:0055013)	2.73586361
87	translation (GO:0006412)	2.73381985
88	regulation of ubiquitin-protein transferase activity (GO:0051438)	2.73177113
89	muscle contraction (GO:0006936)	2.72406852
90	2-oxoglutarate metabolic process (GO:0006103)	2.71965150
91	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.71580033
92	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.71580033
93	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.71250763
94	DNA replication checkpoint (GO:0000076)	2.69705074
95	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.68605179
96	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.68605179
97	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.68605179
98	glycogen biosynthetic process (GO:0005978)	2.67567800
99	glucan biosynthetic process (GO:0009250)	2.67567800
100	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.65227686

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	MYC_18555785_ChIP-Seq_MESCs_Mouse	4.32742064
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.00649903
3	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	3.80665078
4	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	3.48984411
5	E2F7_22180533_ChIP-Seq_HELA_Human	3.46243379
6	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.18543554
7	ZNF263_19887448_ChIP-Seq_K562_Human	3.16146763
8	CREB1_15753290_ChIP-ChIP_HEK293T_Human	3.15751033
9	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.95623345
10	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.91193072
11	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.82532225
12	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.82387688
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.78035709
14	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.68037935
15	MYC_19030024_ChIP-ChIP_MESCs_Mouse	2.65122794
16	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.59873453
17	AR_21909140_ChIP-Seq_LNCAP_Human	2.41102450
18	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.26800833
19	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.13934836
20	NELFA_20434984_ChIP-Seq_ESCs_Mouse	2.13096889
21	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	2.04091125
22	XRN2_22483619_ChIP-Seq_HELA_Human	1.99800847
23	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.97823965
24	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.97423201
25	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.97141263
26	VDR_23849224_ChIP-Seq_CD4+_Human	1.94446090
27	DCP1A_22483619_ChIP-Seq_HELA_Human	1.84948031
28	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.84926287
29	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.83446401
30	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.78687603
31	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.72707574
32	GABP_19822575_ChIP-Seq_HepG2_Human	1.67956798
33	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.67499457
34	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.66214744
35	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.62773535
36	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.60526338
37	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.56876101
38	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.54009991
39	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.52863639
40	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.52462672
41	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.52420334
42	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.52415443
43	CIITA_25753668_ChIP-Seq_RAJI_Human	1.52227822
44	TTF2_22483619_ChIP-Seq_HELA_Human	1.51264898
45	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.47101655
46	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.44787739
47	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.42967743
48	FOXP3_21729870_ChIP-Seq_TREG_Human	1.42160105
49	KDM5A_27292631_Chip-Seq_BREAST_Human	1.41055492
50	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.33673795
51	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.33457279
52	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.29573156
53	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.27305409
54	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.26743142
55	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.26695639
56	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.25588630
57	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.25498143
58	ATF3_27146783_Chip-Seq_COLON_Human	1.22829819
59	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.22040875
60	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.21566519
61	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.20444433
62	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.14336238
63	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.12404394
64	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.11835614
65	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.09428636
66	ELK1_19687146_ChIP-ChIP_HELA_Human	1.07386592
67	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.05778155
68	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.04930320
69	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.04336124
70	OCT4_18692474_ChIP-Seq_MEFs_Mouse	1.03847319
71	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.03210033
72	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.02101865
73	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.01759773
74	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.01552999
75	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.00934375
76	TRIM28_19339689_ChIP-ChIP_MESCs_Mouse	0.99007028
77	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.98818079
78	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.98745307
79	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.98090839
80	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.97705622
81	ESR1_15608294_ChIP-ChIP_MCF-7_Human	0.97661054
82	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	0.96411434
83	NANOG_21062744_ChIP-ChIP_HESCs_Human	0.96106169
84	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	0.95048144
85	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.94284317
86	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	0.94052775
87	GATA4_21415370_ChIP-Seq_HL-1_Mouse	0.92379851
88	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.92348785
89	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	0.86873341
90	NACC1_18358816_ChIP-ChIP_MESCs_Mouse	0.86869217
91	RXR_22158963_ChIP-Seq_LIVER_Mouse	0.86688743
92	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.86634648
93	SRY_22984422_ChIP-ChIP_TESTIS_Rat	0.86504568
94	RACK7_27058665_Chip-Seq_MCF-7_Human	0.86121993
95	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	0.85873979
96	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.85848188
97	SOX2_18692474_ChIP-Seq_MEFs_Mouse	0.84647615
98	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.84337646
99	CHD1_26751641_Chip-Seq_LNCaP_Human	0.84252390
100	CLOCK_20551151_ChIP-Seq_293T_Human	0.83184091

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	6.44389988
2	MP0004145_abnormal_muscle_electrophysio	4.65555707
3	MP0000751_myopathy	4.58310836
4	MP0000749_muscle_degeneration	4.16034836
5	MP0004036_abnormal_muscle_relaxation	3.21852564
6	MP0003693_abnormal_embryo_hatching	3.10897608
7	MP0000747_muscle_weakness	3.07492587
8	MP0002106_abnormal_muscle_physiology	3.02561327
9	MP0004087_abnormal_muscle_fiber	2.82730781
10	MP0002269_muscular_atrophy	2.77504372
11	MP0004185_abnormal_adipocyte_glucose	2.72491680
12	MP0002837_dystrophic_cardiac_calcinosis	2.67508336
13	MP0004084_abnormal_cardiac_muscle	2.58604749
14	MP0004130_abnormal_muscle_cell	2.56893850
15	MP0000750_abnormal_muscle_regeneration	2.55842458
16	MP0005330_cardiomyopathy	2.48958725
17	MP0000759_abnormal_skeletal_muscle	2.46274719
18	MP0006036_abnormal_mitochondrial_physio	2.46081868
19	MP0005369_muscle_phenotype	2.41912341
20	MP0004957_abnormal_blastocyst_morpholog	2.31742842
21	MP0005620_abnormal_muscle_contractility	2.29421226
22	MP0003111_abnormal_nucleus_morphology	2.11155978
23	MP0009840_abnormal_foam_cell	1.99306363
24	MP0004215_abnormal_myocardial_fiber	1.92269890
25	MP0003806_abnormal_nucleotide_metabolis	1.87222147
26	MP0005666_abnormal_adipose_tissue	1.85498124
27	MP0003567_abnormal_fetal_cardiomyocyte	1.81477639
28	MP0003221_abnormal_cardiomyocyte_apopto	1.73813844
29	MP0005451_abnormal_body_composition	1.66896477
30	MP0004233_abnormal_muscle_weight	1.64698320
31	MP0000733_abnormal_muscle_development	1.61137631
32	MP0004484_altered_response_of	1.57020579
33	MP0006035_abnormal_mitochondrial_morpho	1.54763406
34	MP0010352_gastrointestinal_tract_polyps	1.45720076
35	MP0003123_paternal_imprinting	1.45706591
36	MP0010630_abnormal_cardiac_muscle	1.44627843
37	MP0001730_embryonic_growth_arrest	1.44227595
38	MP0003283_abnormal_digestive_organ	1.42973523
39	MP0005385_cardiovascular_system_phenoty	1.39712729
40	MP0001544_abnormal_cardiovascular_syste	1.39712729
41	MP0003077_abnormal_cell_cycle	1.31684363
42	MP0009379_abnormal_foot_pigmentation	1.30925178
43	MP0010094_abnormal_chromosome_stability	1.29342996
44	MP0002332_abnormal_exercise_endurance	1.20923681
45	MP0002972_abnormal_cardiac_muscle	1.19717373
46	MP0003941_abnormal_skin_development	1.19090953
47	MP0002234_abnormal_pharynx_morphology	1.14941391
48	MP0002971_abnormal_brown_adipose	1.09250357
49	MP0004134_abnormal_chest_morphology	1.08344900
50	MP0003950_abnormal_plasma_membrane	1.07585368
51	MP0003705_abnormal_hypodermis_morpholog	1.06954896
52	MP0002108_abnormal_muscle_morphology	1.06842926
53	MP0008775_abnormal_heart_ventricle	1.04744199
54	MP0005266_abnormal_metabolism	1.01536796
55	MP0005375_adipose_tissue_phenotype	0.99638541
56	MP0003137_abnormal_impulse_conducting	0.95451188
57	MP0000566_synostosis	0.94219675
58	MP0005332_abnormal_amino_acid	0.92619522
59	MP0003828_pulmonary_edema	0.89591526
60	MP0008058_abnormal_DNA_repair	0.84201361
61	MP0004019_abnormal_vitamin_homeostasis	0.83713318
62	MP0006138_congestive_heart_failure	0.81154511
63	MP0002088_abnormal_embryonic_growth/wei	0.77880457
64	MP0003718_maternal_effect	0.77634470
65	MP0003984_embryonic_growth_retardation	0.75745508
66	MP0000350_abnormal_cell_proliferation	0.75559769
67	MP0000762_abnormal_tongue_morphology	0.75000782
68	MP0003186_abnormal_redox_activity	0.74721329
69	MP0005085_abnormal_gallbladder_physiolo	0.74198958
70	MP0008932_abnormal_embryonic_tissue	0.73100672
71	MP0005380_embryogenesis_phenotype	0.73052366
72	MP0001672_abnormal_embryogenesis/_devel	0.73052366
73	MP0004197_abnormal_fetal_growth/weight/	0.72087522
74	MP0001764_abnormal_homeostasis	0.72018861
75	MP0001697_abnormal_embryo_size	0.71224093
76	MP0002080_prenatal_lethality	0.68318144
77	MP0001853_heart_inflammation	0.66915373
78	MP0009672_abnormal_birth_weight	0.66457511
79	MP0005319_abnormal_enzyme/_coenzyme	0.66065439
80	MP0010329_abnormal_lipoprotein_level	0.65078402
81	MP0000013_abnormal_adipose_tissue	0.64967569
82	MP0000537_abnormal_urethra_morphology	0.63452362
83	MP0002086_abnormal_extraembryonic_tissu	0.62657957
84	MP0000266_abnormal_heart_morphology	0.62218204
85	MP0002127_abnormal_cardiovascular_syste	0.61756603
86	MP0003119_abnormal_digestive_system	0.60565786
87	MP0004147_increased_porphyrin_level	0.59222120
88	MP0008007_abnormal_cellular_replicative	0.57610766
89	MP0002796_impaired_skin_barrier	0.57098307
90	MP0003315_abnormal_perineum_morphology	0.55198250
91	MP0003786_premature_aging	0.55060468
92	MP0001756_abnormal_urination	0.54038506
93	MP0003656_abnormal_erythrocyte_physiolo	0.52782121
94	MP0008877_abnormal_DNA_methylation	0.52298750
95	MP0002210_abnormal_sex_determination	0.50755593
96	MP0000358_abnormal_cell_content/	0.50621049
97	MP0002085_abnormal_embryonic_tissue	0.49011193
98	MP0001299_abnormal_eye_distance/	0.48157714
99	MP0002009_preneoplasia	0.48025720
100	MP0000462_abnormal_digestive_system	0.47204427

Predicted human phenotypes

Rank	Gene Set	Z-score
1	* Muscle fiber inclusion bodies (HP:0100299)	7.90525981
2	* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	7.42604870
3	* Nemaline bodies (HP:0003798)	7.10473636
4	Exercise-induced myalgia (HP:0003738)	6.98396670
5	Exercise-induced muscle cramps (HP:0003710)	6.09148890
6	Type 1 muscle fiber predominance (HP:0003803)	5.57064376
7	Myopathic facies (HP:0002058)	5.53895753
8	Muscle hypertrophy of the lower extremities (HP:0008968)	5.35200011
9	Calf muscle hypertrophy (HP:0008981)	4.94605749
10	Myoglobinuria (HP:0002913)	4.72590608
11	Distal arthrogryposis (HP:0005684)	4.66443377
12	Muscle fiber splitting (HP:0003555)	4.54681602
13	Ulnar deviation of the wrist (HP:0003049)	4.53467605
14	Rhabdomyolysis (HP:0003201)	4.34025023
15	Calcaneovalgus deformity (HP:0001848)	3.91760517
16	* Difficulty running (HP:0009046)	3.75584145
17	Deformed tarsal bones (HP:0008119)	3.60156388
18	* Muscle stiffness (HP:0003552)	3.53173212
19	Absent phalangeal crease (HP:0006109)	3.46135238
20	Hyporeflexia of lower limbs (HP:0002600)	3.45843124
21	Round ear (HP:0100830)	3.37748750
22	Areflexia of lower limbs (HP:0002522)	3.34445663
23	EMG: myopathic abnormalities (HP:0003458)	3.31171723
24	Abnormality of the calf musculature (HP:0001430)	3.28085159
25	Increased connective tissue (HP:0009025)	3.25513638
26	Hepatic necrosis (HP:0002605)	3.13966133
27	Rimmed vacuoles (HP:0003805)	3.12645580
28	* Neck muscle weakness (HP:0000467)	3.12342090
29	Myotonia (HP:0002486)	2.99823329
30	Increased muscle lipid content (HP:0009058)	2.92543111
31	Abnormality of alanine metabolism (HP:0010916)	2.90161217
32	Hyperalaninemia (HP:0003348)	2.90161217
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.90161217
34	Progressive muscle weakness (HP:0003323)	2.83856836
35	Abnormal finger flexion creases (HP:0006143)	2.82095209
36	Abnormality of skeletal muscle fiber size (HP:0012084)	2.80379732
37	Sudden death (HP:0001699)	2.80232935
38	Increased intramyocellular lipid droplets (HP:0012240)	2.80205007
39	Hepatocellular necrosis (HP:0001404)	2.70909921
40	Shoulder girdle muscle weakness (HP:0003547)	2.66999463
41	Abnormality of the calcaneus (HP:0008364)	2.61618116
42	Pelvic girdle muscle weakness (HP:0003749)	2.59421068
43	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.56605171
44	Dicarboxylic aciduria (HP:0003215)	2.56605171
45	Malignant hyperthermia (HP:0002047)	2.47961186
46	Lipid accumulation in hepatocytes (HP:0006561)	2.47665235
47	Abnormality of the left ventricular outflow tract (HP:0011103)	2.44072088
48	Subaortic stenosis (HP:0001682)	2.44072088
49	* Difficulty climbing stairs (HP:0003551)	2.43587189
50	Increased variability in muscle fiber diameter (HP:0003557)	2.41651338
51	Abnormality of the musculature of the pelvis (HP:0001469)	2.41572002
52	Abnormality of the hip-girdle musculature (HP:0001445)	2.41572002
53	Ventricular fibrillation (HP:0001663)	2.40836910
54	Increased hepatocellular lipid droplets (HP:0006565)	2.34692510
55	Colon cancer (HP:0003003)	2.34129815
56	Exercise intolerance (HP:0003546)	2.27212772
57	Paralysis (HP:0003470)	2.18410853
58	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.14055951
59	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.14055951
60	Trismus (HP:0000211)	2.13164395
61	Carpal bone hypoplasia (HP:0001498)	2.11381274
62	Ventricular tachycardia (HP:0004756)	2.09677090
63	Facial diplegia (HP:0001349)	2.06984308
64	Increased CSF lactate (HP:0002490)	2.05211039
65	Proximal tubulopathy (HP:0000114)	2.03840579
66	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.03246885
67	Mitochondrial inheritance (HP:0001427)	2.02811368
68	Abnormality of glycolysis (HP:0004366)	2.01207057
69	Increased serum pyruvate (HP:0003542)	2.01207057
70	Abnormality of fatty-acid metabolism (HP:0004359)	1.98369945
71	Hypoglycemic coma (HP:0001325)	1.98141621
72	Palpitations (HP:0001962)	1.96564215
73	Bundle branch block (HP:0011710)	1.95937745
74	Achilles tendon contracture (HP:0001771)	1.95346937
75	Asymmetric septal hypertrophy (HP:0001670)	1.94797016
76	Hyperglycinuria (HP:0003108)	1.94568879
77	Distal lower limb muscle weakness (HP:0009053)	1.94402784
78	Lactic acidosis (HP:0003128)	1.93659175
79	Lipoatrophy (HP:0100578)	1.90449829
80	Hypoplastic ischia (HP:0003175)	1.90437237
81	Slender build (HP:0001533)	1.89465300
82	Abnormal mitochondria in muscle tissue (HP:0008316)	1.89392775
83	Increased serum lactate (HP:0002151)	1.89060165
84	Hip contracture (HP:0003273)	1.88557878
85	Acute necrotizing encephalopathy (HP:0006965)	1.87580291
86	Double outlet right ventricle (HP:0001719)	1.86580964
87	Congenital malformation of the right heart (HP:0011723)	1.86580964
88	Ventricular arrhythmia (HP:0004308)	1.86125002
89	Right ventricular cardiomyopathy (HP:0011663)	1.85460548
90	Reticulocytopenia (HP:0001896)	1.82923549
91	Hypoalphalipoproteinemia (HP:0003233)	1.81838105
92	Limb-girdle muscle weakness (HP:0003325)	1.81618424
93	Abnormality of the Achilles tendon (HP:0005109)	1.80673026
94	Gout (HP:0001997)	1.79739407
95	Generalized aminoaciduria (HP:0002909)	1.78020353
96	Abnormality of serine family amino acid metabolism (HP:0010894)	1.77518828
97	Abnormality of glycine metabolism (HP:0010895)	1.77518828
98	Cerebral edema (HP:0002181)	1.76979341
99	Abnormality of cells of the erythroid lineage (HP:0012130)	1.76629663
100	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.74409883

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	6.50860564
2	NME1	4.82539849
3	TTN	3.78729652
4	BUB1	3.61758432
5	WEE1	3.51870788
6	NEK1	2.91455715
7	EPHA2	2.87175818
8	PHKG2	2.84250732
9	PHKG1	2.84250732
10	CDK12	2.64080008
11	BCKDK	2.51858075
12	PDK3	2.38005344
13	PDK4	2.38005344
14	MAP2K3	2.24028387
15	ZAK	2.03457187
16	MAP3K3	2.03360242
17	PIK3CG	1.90250680
18	PNCK	1.83979691
19	NME2	1.81911540
20	NEK2	1.60648398
21	PDK2	1.45127609
22	PKN2	1.43516379
23	BRSK2	1.41118097
24	TTK	1.40378394
25	TRIB3	1.38036650
26	RPS6KB2	1.26132250
27	IRAK3	1.24025745
28	PLK4	1.22344710
29	STK24	1.15928688
30	EIF2AK1	1.09818482
31	MAP2K6	1.08459915
32	MST1R	1.08259345
33	MAP3K11	0.99381531
34	DYRK3	0.98299135
35	STK38L	0.98057036
36	MAP3K7	0.93533328
37	STK16	0.81039267
38	CDC7	0.79212083
39	DMPK	0.77760322
40	CDK7	0.77032826
41	PLK1	0.76060828
42	ILK	0.75842576
43	RPS6KA4	0.74978079
44	PRKCI	0.72942554
45	AURKA	0.72643328
46	CCNB1	0.70882609
47	PINK1	0.70739179
48	AURKB	0.70484422
49	SRPK1	0.69257144
50	CDK8	0.69175017
51	MARK1	0.67906367
52	BRSK1	0.67481822
53	SCYL2	0.67046952
54	PIK3CA	0.65605912
55	TESK2	0.65401683
56	TAOK1	0.65064459
57	MAP3K10	0.63456204
58	MAPK12	0.63190716
59	ABL2	0.61530579
60	MAPK11	0.61205167
61	KDR	0.56207475
62	CAMK2G	0.55295094
63	MAP2K4	0.55285308
64	MARK3	0.54359678
65	CDK4	0.53118850
66	MAP2K2	0.51097651
67	TSSK6	0.49761530
68	NEK9	0.48658699
69	LATS2	0.43442240
70	KSR1	0.42867552
71	MAP3K5	0.42835578
72	MAP3K8	0.41667327
73	CHEK2	0.41575612
74	FLT3	0.38909410
75	PAK4	0.37950240
76	MELK	0.37062898
77	MYLK	0.36259342
78	MAPKAPK3	0.33639317
79	AKT2	0.32852675
80	TAOK2	0.31145592
81	PRKAA1	0.30019205
82	CAMK2D	0.29792311
83	PAK1	0.28798831
84	PLK3	0.27238485
85	CAMK1	0.26953809
86	CSNK1E	0.25272644
87	CSNK2A2	0.24945889
88	BRAF	0.24937678
89	LIMK1	0.24755734
90	ATR	0.24697930
91	MAPK4	0.24196883
92	TLK1	0.22473642
93	EIF2AK3	0.22378820
94	CHEK1	0.21873444
95	PRKAA2	0.21871960
96	PBK	0.21066973
97	EEF2K	0.20888530
98	CSNK2A1	0.18412367
99	CDK2	0.15981140
100	MET	0.14203104

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	4.39936254
2	Proteasome_Homo sapiens_hsa03050	3.91183492
3	Ribosome_Homo sapiens_hsa03010	3.21328569
4	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.03779495
5	Carbon metabolism_Homo sapiens_hsa01200	2.62696067
6	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.51428102
7	Parkinsons disease_Homo sapiens_hsa05012	2.44749111
8	Propanoate metabolism_Homo sapiens_hsa00640	2.36033893
9	Oxidative phosphorylation_Homo sapiens_hsa00190	2.34902685
10	Cardiac muscle contraction_Homo sapiens_hsa04260	2.25269753
11	DNA replication_Homo sapiens_hsa03030	2.17602925
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.14150444
13	Mismatch repair_Homo sapiens_hsa03430	2.13668933
14	RNA polymerase_Homo sapiens_hsa03020	2.02575907
15	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.90563330
16	Fatty acid degradation_Homo sapiens_hsa00071	1.85024133
17	RNA transport_Homo sapiens_hsa03013	1.84026395
18	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.81246462
19	Pentose phosphate pathway_Homo sapiens_hsa00030	1.79744876
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.77835086
21	Huntingtons disease_Homo sapiens_hsa05016	1.74074015
22	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.70952526
23	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.67644132
24	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.62926177
25	Alzheimers disease_Homo sapiens_hsa05010	1.59507795
26	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.58276784
27	Galactose metabolism_Homo sapiens_hsa00052	1.58246056
28	Base excision repair_Homo sapiens_hsa03410	1.47643608
29	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.43463259
30	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.42171408
31	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.41824345
32	Pyrimidine metabolism_Homo sapiens_hsa00240	1.40466399
33	Glutathione metabolism_Homo sapiens_hsa00480	1.39239304
34	Pyruvate metabolism_Homo sapiens_hsa00620	1.23956852
35	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.23956386
36	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.21694292
37	Spliceosome_Homo sapiens_hsa03040	1.19012532
38	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.18541929
39	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.17485236
40	Arginine and proline metabolism_Homo sapiens_hsa00330	1.15420953
41	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.15160049
42	Fatty acid metabolism_Homo sapiens_hsa01212	1.14602956
43	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.09773122
44	Nucleotide excision repair_Homo sapiens_hsa03420	1.09286310
45	Tight junction_Homo sapiens_hsa04530	1.07229332
46	beta-Alanine metabolism_Homo sapiens_hsa00410	1.06029140
47	Purine metabolism_Homo sapiens_hsa00230	1.04095927
48	Cell cycle_Homo sapiens_hsa04110	1.01145283
49	One carbon pool by folate_Homo sapiens_hsa00670	0.96916698
50	Regulation of autophagy_Homo sapiens_hsa04140	0.94195495
51	Homologous recombination_Homo sapiens_hsa03440	0.83376085
52	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.82014329
53	Folate biosynthesis_Homo sapiens_hsa00790	0.80877437
54	Insulin signaling pathway_Homo sapiens_hsa04910	0.78245174
55	Glucagon signaling pathway_Homo sapiens_hsa04922	0.76229036
56	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.74568842
57	AMPK signaling pathway_Homo sapiens_hsa04152	0.74132722
58	Metabolic pathways_Homo sapiens_hsa01100	0.70807008
59	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.68602252
60	Fatty acid elongation_Homo sapiens_hsa00062	0.68174727
61	RNA degradation_Homo sapiens_hsa03018	0.66925409
62	Butanoate metabolism_Homo sapiens_hsa00650	0.64431077
63	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.62275178
64	Insulin resistance_Homo sapiens_hsa04931	0.62188271
65	Oocyte meiosis_Homo sapiens_hsa04114	0.60520043
66	Sulfur relay system_Homo sapiens_hsa04122	0.59998868
67	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.59337489
68	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.58498824
69	Basal transcription factors_Homo sapiens_hsa03022	0.57174850
70	PPAR signaling pathway_Homo sapiens_hsa03320	0.57045157
71	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.55299366
72	Fat digestion and absorption_Homo sapiens_hsa04975	0.53016066
73	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.53000699
74	Selenocompound metabolism_Homo sapiens_hsa00450	0.49814659
75	Arginine biosynthesis_Homo sapiens_hsa00220	0.48585815
76	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.47760182
77	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.47307011
78	Peroxisome_Homo sapiens_hsa04146	0.45734763
79	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.44473815
80	mRNA surveillance pathway_Homo sapiens_hsa03015	0.43349569
81	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.43324255
82	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.42039120
83	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.40291167
84	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.40268431
85	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.37446322
86	Fanconi anemia pathway_Homo sapiens_hsa03460	0.34975402
87	Circadian rhythm_Homo sapiens_hsa04710	0.34696502
88	p53 signaling pathway_Homo sapiens_hsa04115	0.34546303
89	Glycerolipid metabolism_Homo sapiens_hsa00561	0.32432397
90	Non-homologous end-joining_Homo sapiens_hsa03450	0.30091065
91	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.27561482
92	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.22885109
93	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.22432612
94	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.21950064
95	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.21562787
96	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.21240234
97	Nitrogen metabolism_Homo sapiens_hsa00910	0.19223636
98	Viral myocarditis_Homo sapiens_hsa05416	0.19114437
99	FoxO signaling pathway_Homo sapiens_hsa04068	0.18499885
100	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.18414366

KBTBD13

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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