ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to muscle activity (GO:0014850)	6.22870717
2	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	5.92924261
3	lysine metabolic process (GO:0006553)	5.31903798
4	lysine catabolic process (GO:0006554)	5.31903798
5	muscle atrophy (GO:0014889)	4.83900240
6	embryonic camera-type eye development (GO:0031076)	4.74200844
7	muscle cell cellular homeostasis (GO:0046716)	4.46884340
8	myofibril assembly (GO:0030239)	4.39681492
9	plasma membrane repair (GO:0001778)	4.25682674
10	positive regulation of catecholamine secretion (GO:0033605)	4.08560145
11	ADP metabolic process (GO:0046031)	4.06020838
12	white fat cell differentiation (GO:0050872)	3.99895894
13	aspartate family amino acid catabolic process (GO:0009068)	3.86474608
14	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	3.83080225
15	striated muscle atrophy (GO:0014891)	3.80592252
16	lateral sprouting from an epithelium (GO:0060601)	3.77150296
17	actin-myosin filament sliding (GO:0033275)	3.76665735
18	muscle filament sliding (GO:0030049)	3.76665735
19	sarcomere organization (GO:0045214)	3.71002506
20	muscle cell fate commitment (GO:0042693)	3.69637906
21	negative regulation of striated muscle cell apoptotic process (GO:0010664)	3.64544852
22	AMP metabolic process (GO:0046033)	3.63786973
23	skeletal muscle adaptation (GO:0043501)	3.62004995
24	maturation of SSU-rRNA (GO:0030490)	3.59320317
25	tryptophan metabolic process (GO:0006568)	3.56793261
26	ectoderm development (GO:0007398)	3.49051486
27	otic vesicle formation (GO:0030916)	3.39452078
28	nucleoside diphosphate phosphorylation (GO:0006165)	3.37995831
29	fructose metabolic process (GO:0006000)	3.37886854
30	ribosomal small subunit biogenesis (GO:0042274)	3.35457107
31	presynaptic membrane assembly (GO:0097105)	3.28896348
32	regulation of myoblast differentiation (GO:0045661)	3.28724522
33	paraxial mesoderm development (GO:0048339)	3.28559808
34	regulation of oxidative stress-induced neuron death (GO:1903203)	3.24858202
35	cellular response to zinc ion (GO:0071294)	3.23997780
36	iron ion import (GO:0097286)	3.21900359
37	TOR signaling (GO:0031929)	3.18850014
38	regulation of oxidative phosphorylation (GO:0002082)	3.17331527
39	vitamin transmembrane transport (GO:0035461)	3.17241600
40	nucleoside diphosphate biosynthetic process (GO:0009133)	3.13313960
41	nucleobase-containing small molecule interconversion (GO:0015949)	3.12620818
42	mesenchymal-epithelial cell signaling (GO:0060638)	3.05205967
43	actin-mediated cell contraction (GO:0070252)	3.04143229
44	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.02312164
45	protein import into peroxisome matrix (GO:0016558)	2.99698795
46	regulation of NFAT protein import into nucleus (GO:0051532)	2.99065964
47	organ growth (GO:0035265)	2.97353746
48	branching involved in labyrinthine layer morphogenesis (GO:0060670)	2.96174077
49	activation of protein kinase B activity (GO:0032148)	2.94504097
50	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.93274059
51	regulation of phospholipid biosynthetic process (GO:0071071)	2.93039880
52	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	2.90026140
53	skeletal muscle contraction (GO:0003009)	2.88969312
54	positive regulation of triglyceride biosynthetic process (GO:0010867)	2.88658841
55	protein localization to microtubule (GO:0035372)	2.81941723
56	neuron cell-cell adhesion (GO:0007158)	2.79507602
57	cytoplasmic mRNA processing body assembly (GO:0033962)	2.79021067
58	calcium-mediated signaling using intracellular calcium source (GO:0035584)	2.78992331
59	cell migration in hindbrain (GO:0021535)	2.77632256
60	viral transcription (GO:0019083)	2.77113335
61	negative regulation of microtubule polymerization (GO:0031115)	2.77011866
62	muscle fiber development (GO:0048747)	2.75703832
63	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.75606848
64	positive regulation of protein kinase C signaling (GO:0090037)	2.73847323
65	translational termination (GO:0006415)	2.69983021
66	thyroid gland development (GO:0030878)	2.68484491
67	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.65801755
68	regulation of striated muscle cell apoptotic process (GO:0010662)	2.64731332
69	motile cilium assembly (GO:0044458)	2.64338624
70	microtubule depolymerization (GO:0007019)	2.64197322
71	regulation of protein sumoylation (GO:0033233)	2.62622709
72	mitochondrion morphogenesis (GO:0070584)	2.61849196
73	cellular response to cadmium ion (GO:0071276)	2.61782426
74	sequestering of actin monomers (GO:0042989)	2.61422299
75	serine family amino acid catabolic process (GO:0009071)	2.60871188
76	postsynaptic membrane organization (GO:0001941)	2.60522909
77	regulation of autophagic vacuole assembly (GO:2000785)	2.58627823
78	mesonephros development (GO:0001823)	2.57571351
79	regulation of hydrogen peroxide-induced cell death (GO:1903205)	2.55740686
80	regulation of branching involved in prostate gland morphogenesis (GO:0060687)	2.54837216
81	response to salt stress (GO:0009651)	2.54291648
82	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.52263625
83	neuromuscular synaptic transmission (GO:0007274)	2.52226083
84	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)	2.50763865
85	mRNA cleavage (GO:0006379)	2.49152282
86	dermatan sulfate biosynthetic process (GO:0030208)	2.48021260
87	negative regulation of hydrogen peroxide-induced cell death (GO:1903206)	2.48003025
88	behavioral response to nicotine (GO:0035095)	2.47818615
89	presynaptic membrane organization (GO:0097090)	2.47624444
90	coenzyme catabolic process (GO:0009109)	2.46948420
91	histone-serine phosphorylation (GO:0035404)	2.46043071
92	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.45720096
93	striated muscle adaptation (GO:0014888)	2.45260780
94	regulation of gene silencing by RNA (GO:0060966)	2.44123645
95	regulation of posttranscriptional gene silencing (GO:0060147)	2.44123645
96	regulation of gene silencing by miRNA (GO:0060964)	2.44123645
97	mitotic G1 DNA damage checkpoint (GO:0031571)	2.43845329
98	regulation of hydrogen peroxide metabolic process (GO:0010310)	2.42231963
99	protein localization to cytoskeleton (GO:0044380)	2.41942339
100	hyperosmotic salinity response (GO:0042538)	2.41887475

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	8.17529310
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.75116050
3	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.30977085
4	ESR1_20079471_ChIP-ChIP_T-47D_Human	3.13735632
5	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.68633783
6	GATA1_22025678_ChIP-Seq_K562_Human	2.65286919
7	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.53012857
8	ESR1_15608294_ChIP-ChIP_MCF-7_Human	2.40980473
9	AR_21572438_ChIP-Seq_LNCaP_Human	2.26143541
10	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.09898709
11	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.04113877
12	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.98926361
13	IGF1R_20145208_ChIP-Seq_DFB_Human	1.96137955
14	GBX2_23144817_ChIP-Seq_PC3_Human	1.89411077
15	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.71208287
16	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.70026311
17	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.69713570
18	CTCF_27219007_Chip-Seq_Bcells_Human	1.64821338
19	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.62981092
20	RACK7_27058665_Chip-Seq_MCF-7_Human	1.60411057
21	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.56286899
22	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.55213173
23	ZNF274_21170338_ChIP-Seq_K562_Hela	1.54134025
24	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.53439381
25	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.53386964
26	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.53386964
27	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.47060433
28	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.46945669
29	VDR_22108803_ChIP-Seq_LS180_Human	1.45290647
30	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.42772582
31	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.42160008
32	ER_23166858_ChIP-Seq_MCF-7_Human	1.41404150
33	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.39982024
34	CREB1_26743006_Chip-Seq_LNCaP_Human	1.38530486
35	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.37775764
36	SMC4_20622854_ChIP-Seq_HELA_Human	1.37128849
37	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.35993250
38	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.35789734
39	LXR_22292898_ChIP-Seq_THP-1_Human	1.33337493
40	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.29098450
41	EZH2_22144423_ChIP-Seq_EOC_Human	1.26157606
42	AHR_22903824_ChIP-Seq_MCF-7_Human	1.25879935
43	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.24210795
44	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.22368037
45	P68_20966046_ChIP-Seq_HELA_Human	1.20931322
46	CTCF_21964334_Chip-Seq_Bcells_Human	1.19895645
47	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.19884879
48	ERA_21632823_ChIP-Seq_H3396_Human	1.18489329
49	KDM2B_26808549_Chip-Seq_DND41_Human	1.18317124
50	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.17579974
51	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.16340147
52	PKCTHETA_26484144_Chip-Seq_BREAST_Human	1.16188825
53	DROSHA_22980978_ChIP-Seq_HELA_Human	1.15380936
54	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.14744008
55	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.14630340
56	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.12490584
57	CHD1_26751641_Chip-Seq_LNCaP_Human	1.12169258
58	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.10612202
59	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.10369136
60	XRN2_22483619_ChIP-Seq_HELA_Human	1.09541404
61	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.09137720
62	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.08533325
63	SMAD4_21741376_ChIP-Seq_ESCs_Human	1.07090584
64	PHF8_20622854_ChIP-Seq_HELA_Human	1.06920495
65	KDM2B_26808549_Chip-Seq_K562_Human	1.06750458
66	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.06590177
67	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.06291967
68	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.05568037
69	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	1.05455610
70	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.04712346
71	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.04379371
72	AR_21909140_ChIP-Seq_LNCAP_Human	1.04259213
73	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.04178720
74	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.03321897
75	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.01412487
76	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.99122777
77	ZFP281_27345836_Chip-Seq_ESCs_Mouse	0.97503845
78	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	0.97395750
79	E2F1_20622854_ChIP-Seq_HELA_Human	0.97302248
80	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	0.96787268
81	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.94984913
82	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.94493975
83	TP53_22127205_ChIP-Seq_IMR90_Human	0.94429817
84	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	0.92979568
85	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.92973960
86	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.92793749
87	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.92126985
88	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.91939075
89	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.91492055
90	CTCF_20526341_ChIP-Seq_ESCs_Human	0.90837645
91	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.90778472
92	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	0.89985236
93	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	0.89651104
94	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	0.87578907
95	GATA6_25053715_ChIP-Seq_YYC3_Human	0.86771676
96	OCT4_19829295_ChIP-Seq_ESCs_Human	0.85738030
97	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.83101323
98	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.82901582
99	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.82422571
100	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.82269496

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	5.62787839
2	MP0000749_muscle_degeneration	4.69393351
3	MP0000372_irregular_coat_pigmentation	3.58764417
4	MP0003806_abnormal_nucleotide_metabolis	3.20887536
5	MP0002132_abnormal_respiratory_system	3.04239402
6	MP0000537_abnormal_urethra_morphology	2.95149748
7	MP0010030_abnormal_orbit_morphology	2.94302464
8	MP0002837_dystrophic_cardiac_calcinosis	2.90858469
9	MP0003315_abnormal_perineum_morphology	2.83339446
10	MP0010234_abnormal_vibrissa_follicle	2.43556235
11	MP0006072_abnormal_retinal_apoptosis	2.17498018
12	MP0001849_ear_inflammation	2.12338630
13	MP0002269_muscular_atrophy	2.01724158
14	MP0002653_abnormal_ependyma_morphology	1.98788372
15	MP0000750_abnormal_muscle_regeneration	1.83429847
16	MP0005248_abnormal_Harderian_gland	1.80325064
17	MP0000747_muscle_weakness	1.78789306
18	MP0009840_abnormal_foam_cell	1.77369773
19	MP0004233_abnormal_muscle_weight	1.75697239
20	MP0002249_abnormal_larynx_morphology	1.72496986
21	MP0004381_abnormal_hair_follicle	1.70305373
22	MP0004036_abnormal_muscle_relaxation	1.67993142
23	MP0001485_abnormal_pinna_reflex	1.67917517
24	MP0002163_abnormal_gland_morphology	1.67286085
25	MP0005330_cardiomyopathy	1.66655111
26	MP0004084_abnormal_cardiac_muscle	1.64124487
27	MP0005187_abnormal_penis_morphology	1.63895459
28	MP0002160_abnormal_reproductive_system	1.63337882
29	MP0002102_abnormal_ear_morphology	1.55082876
30	MP0004087_abnormal_muscle_fiber	1.53772688
31	MP0008961_abnormal_basal_metabolism	1.53704572
32	MP0000751_myopathy	1.51891598
33	MP0002277_abnormal_respiratory_mucosa	1.46084743
34	MP0002108_abnormal_muscle_morphology	1.41327500
35	MP0002009_preneoplasia	1.37848629
36	MP0004145_abnormal_muscle_electrophysio	1.32562927
37	MP0000759_abnormal_skeletal_muscle	1.32297440
38	MP0003938_abnormal_ear_development	1.30640429
39	MP0005266_abnormal_metabolism	1.29806443
40	MP0005451_abnormal_body_composition	1.28915476
41	MP0005620_abnormal_muscle_contractility	1.20423969
42	MP0003119_abnormal_digestive_system	1.19858938
43	MP0008004_abnormal_stomach_pH	1.17471984
44	MP0006036_abnormal_mitochondrial_physio	1.14249806
45	MP0001346_abnormal_lacrimal_gland	1.11991575
46	MP0000762_abnormal_tongue_morphology	1.10418643
47	MP0000579_abnormal_nail_morphology	1.09912432
48	MP0004264_abnormal_extraembryonic_tissu	1.09725531
49	MP0004185_abnormal_adipocyte_glucose	1.09537564
50	MP0003879_abnormal_hair_cell	1.06670969
51	MP0003635_abnormal_synaptic_transmissio	1.04038880
52	MP0009780_abnormal_chondrocyte_physiolo	1.03420470
53	MP0005394_taste/olfaction_phenotype	1.02312762
54	MP0005499_abnormal_olfactory_system	1.02312762
55	MP0000733_abnormal_muscle_development	1.01854657
56	MP0002064_seizures	1.01181405
57	MP0003959_abnormal_lean_body	0.99433056
58	MP0005369_muscle_phenotype	0.99375043
59	MP0003693_abnormal_embryo_hatching	0.98363226
60	MP0000013_abnormal_adipose_tissue	0.93162708
61	MP0001664_abnormal_digestion	0.89979920
62	MP0003283_abnormal_digestive_organ	0.89688314
63	MP0003941_abnormal_skin_development	0.88791937
64	MP0000049_abnormal_middle_ear	0.88502669
65	MP0005646_abnormal_pituitary_gland	0.88456465
66	MP0003123_paternal_imprinting	0.88127331
67	MP0002233_abnormal_nose_morphology	0.88114846
68	MP0004858_abnormal_nervous_system	0.87997592
69	MP0000566_synostosis	0.86521351
70	MP0009250_abnormal_appendicular_skeleto	0.86513113
71	MP0010630_abnormal_cardiac_muscle	0.83417728
72	MP0010678_abnormal_skin_adnexa	0.82586746
73	MP0006138_congestive_heart_failure	0.80199802
74	MP0002063_abnormal_learning/memory/cond	0.80117607
75	MP0002098_abnormal_vibrissa_morphology	0.79902492
76	MP0009745_abnormal_behavioral_response	0.79725861
77	MP0005058_abnormal_lysosome_morphology	0.78131056
78	MP0002332_abnormal_exercise_endurance	0.77761417
79	MP0004859_abnormal_synaptic_plasticity	0.76760120
80	MP0002572_abnormal_emotion/affect_behav	0.76078218
81	MP0002106_abnormal_muscle_physiology	0.75937041
82	MP0001502_abnormal_circadian_rhythm	0.75507096
83	MP0008789_abnormal_olfactory_epithelium	0.74139716
84	MP0004742_abnormal_vestibular_system	0.72108161
85	MP0003936_abnormal_reproductive_system	0.71829235
86	MP0001299_abnormal_eye_distance/	0.71335466
87	MP0001661_extended_life_span	0.71248172
88	MP0004272_abnormal_basement_membrane	0.70688913
89	MP0002822_catalepsy	0.70297606
90	MP0003937_abnormal_limbs/digits/tail_de	0.68586850
91	MP0001440_abnormal_grooming_behavior	0.67515540
92	MP0003942_abnormal_urinary_system	0.66757353
93	MP0000534_abnormal_ureter_morphology	0.66616384
94	MP0000516_abnormal_urinary_system	0.66591850
95	MP0005367_renal/urinary_system_phenotyp	0.66591850
96	MP0004133_heterotaxia	0.66356839
97	MP0001984_abnormal_olfaction	0.64541778
98	MP0000538_abnormal_urinary_bladder	0.63059955
99	MP0009379_abnormal_foot_pigmentation	0.62881950
100	MP0000627_abnormal_mammary_gland	0.62136365

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Exercise-induced muscle cramps (HP:0003710)	4.52651528
2	Hyporeflexia of lower limbs (HP:0002600)	4.31061432
3	Calf muscle hypertrophy (HP:0008981)	4.23633903
4	Clumsiness (HP:0002312)	4.12138000
5	Muscle hypertrophy of the lower extremities (HP:0008968)	4.01096199
6	Concave nail (HP:0001598)	3.99401590
7	Abnormality of lateral ventricle (HP:0030047)	3.97280344
8	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.78733937
9	Exercise-induced myalgia (HP:0003738)	3.72164436
10	Myopathic facies (HP:0002058)	3.52836861
11	Abnormality of the calf musculature (HP:0001430)	3.45638841
12	Scapular winging (HP:0003691)	3.45260757
13	Abnormality of the shoulder girdle musculature (HP:0001435)	3.38409204
14	Diaphragmatic weakness (HP:0009113)	3.31291947
15	Aplasia involving bones of the upper limbs (HP:0009823)	3.25663933
16	Aplasia of the phalanges of the hand (HP:0009802)	3.25663933
17	Aplasia involving bones of the extremities (HP:0009825)	3.25663933
18	Malignant hyperthermia (HP:0002047)	3.20661260
19	EMG: myopathic abnormalities (HP:0003458)	3.12987540
20	Muscle fiber inclusion bodies (HP:0100299)	3.02449327
21	Conical tooth (HP:0000698)	2.98179617
22	Abnormality of the columella (HP:0009929)	2.94786309
23	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.94355765
24	Bulbar palsy (HP:0001283)	2.91570477
25	Abnormal number of erythroid precursors (HP:0012131)	2.82810183
26	Unsteady gait (HP:0002317)	2.82619229
27	Birth length less than 3rd percentile (HP:0003561)	2.71340151
28	Frequent falls (HP:0002359)	2.68309921
29	Premature skin wrinkling (HP:0100678)	2.67878315
30	Abnormality of cells of the erythroid lineage (HP:0012130)	2.66096472
31	Rimmed vacuoles (HP:0003805)	2.64496678
32	Short chin (HP:0000331)	2.59989251
33	Esophageal atresia (HP:0002032)	2.57358885
34	Spastic diplegia (HP:0001264)	2.57009507
35	Partial duplication of thumb phalanx (HP:0009944)	2.55081942
36	Taurodontia (HP:0000679)	2.54485603
37	Abnormality of permanent molar morphology (HP:0011071)	2.54485603
38	Abnormality of the dental root (HP:0006486)	2.54485603
39	Resting tremor (HP:0002322)	2.54312330
40	Myoglobinuria (HP:0002913)	2.53326472
41	Retinal dysplasia (HP:0007973)	2.51649661
42	External ophthalmoplegia (HP:0000544)	2.49506253
43	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.48834848
44	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.48834848
45	Spinal rigidity (HP:0003306)	2.45689113
46	Weak cry (HP:0001612)	2.44295596
47	Right ventricular cardiomyopathy (HP:0011663)	2.42592344
48	Inability to walk (HP:0002540)	2.39539696
49	High anterior hairline (HP:0009890)	2.38014219
50	Type II lissencephaly (HP:0007260)	2.35682415
51	Gout (HP:0001997)	2.30756776
52	Proximal amyotrophy (HP:0007126)	2.30583238
53	Absent thumb (HP:0009777)	2.29486227
54	Neck muscle weakness (HP:0000467)	2.27565605
55	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.26766411
56	Morphological abnormality of the pyramidal tract (HP:0002062)	2.26735386
57	Abnormality of molar morphology (HP:0011070)	2.25723344
58	Abnormality of molar (HP:0011077)	2.25723344
59	Duplication of thumb phalanx (HP:0009942)	2.25682357
60	Nasolacrimal duct obstruction (HP:0000579)	2.16730385
61	Hypoplastic nipples (HP:0002557)	2.14101595
62	Abnormality of the dental pulp (HP:0006479)	2.11832964
63	Mutism (HP:0002300)	2.11817706
64	Partial duplication of the phalanx of hand (HP:0009999)	2.11649680
65	Opisthotonus (HP:0002179)	2.11543016
66	Aplasia cutis congenita (HP:0001057)	2.09007938
67	Absent radius (HP:0003974)	2.06865759
68	Distal arthrogryposis (HP:0005684)	2.02517021
69	Easy fatigability (HP:0003388)	2.02324135
70	Abnormality of the frontal sinuses (HP:0002687)	1.99194355
71	Sensory axonal neuropathy (HP:0003390)	1.98592490
72	Stridor (HP:0010307)	1.98500447
73	Aplasia involving forearm bones (HP:0009822)	1.97275539
74	Absent forearm bone (HP:0003953)	1.97275539
75	Reduced antithrombin III activity (HP:0001976)	1.95702450
76	Turricephaly (HP:0000262)	1.94995573
77	Urinary urgency (HP:0000012)	1.91012298
78	Ketosis (HP:0001946)	1.88073124
79	Sudden death (HP:0001699)	1.87616770
80	Muscular dystrophy (HP:0003560)	1.87325183
81	Difficulty walking (HP:0002355)	1.87015761
82	Nonprogressive disorder (HP:0003680)	1.84593982
83	Confusion (HP:0001289)	1.83958500
84	Decreased subcutaneous fat (HP:0001002)	1.83553415
85	Difficulty climbing stairs (HP:0003551)	1.82881133
86	Self-mutilation (HP:0000742)	1.82683288
87	Oligodontia (HP:0000677)	1.81561006
88	Generalized muscle weakness (HP:0003324)	1.80839040
89	Prominent supraorbital ridges (HP:0000336)	1.80454493
90	Abnormality of the carotid arteries (HP:0005344)	1.80403871
91	Postural instability (HP:0002172)	1.79698688
92	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	1.78787395
93	Abnormality of the lacrimal duct (HP:0011481)	1.78143400
94	Hypoplasia of the ulna (HP:0003022)	1.77533769
95	Reticulocytopenia (HP:0001896)	1.75238390
96	Hypoplasia of the radius (HP:0002984)	1.75156873
97	Hyperphosphatemia (HP:0002905)	1.73634744
98	Triphalangeal thumb (HP:0001199)	1.73048567
99	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.72714810
100	Cerebellar dysplasia (HP:0007033)	1.72174719

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	6.69899531
2	OBSCN	4.64559254
3	MARK3	4.08175081
4	MAP3K9	2.92596101
5	NEK2	2.87269275
6	MAP3K10	2.85349284
7	PHKG1	2.55722028
8	PHKG2	2.55722028
9	NME2	2.52245884
10	BRSK2	2.51980122
11	TRIB3	2.50488707
12	EEF2K	2.16397749
13	MAP2K6	1.93954418
14	LATS1	1.82794070
15	EPHA2	1.76923573
16	ARAF	1.76269783
17	SIK1	1.68083987
18	PKN2	1.67657052
19	MAP3K13	1.65327977
20	ICK	1.65031224
21	MARK1	1.59722485
22	LATS2	1.56333561
23	MST1R	1.48989757
24	ADRBK2	1.45304167
25	PBK	1.42470376
26	MAP2K7	1.41455955
27	MAP3K1	1.35358747
28	BRSK1	1.27279845
29	MUSK	1.23798342
30	RPS6KB1	1.12171517
31	TLK1	1.04852829
32	DYRK3	1.01264982
33	MOS	0.99900703
34	TTN	0.98952995
35	ERBB4	0.94011003
36	FGFR2	0.90501673
37	RPS6KA4	0.90147591
38	PKN1	0.88985074
39	KSR2	0.84130527
40	CDK3	0.81598604
41	MAPK12	0.79917057
42	PRKD3	0.78869142
43	MAP2K1	0.74835137
44	GRK7	0.74219445
45	MYLK	0.74157368
46	CASK	0.72125964
47	CHEK2	0.71527256
48	MAPK13	0.71126802
49	PAK6	0.69418069
50	CDK8	0.68213859
51	IRAK2	0.68147684
52	DAPK2	0.66863710
53	VRK2	0.65799317
54	STK38L	0.65551752
55	SGK223	0.65383318
56	SGK494	0.65383318
57	MELK	0.64741924
58	SIK2	0.61953392
59	MTOR	0.61461792
60	PDPK1	0.57933589
61	PRKAA1	0.56982347
62	AURKB	0.56470344
63	GRK1	0.56194164
64	PRKCI	0.54955065
65	RPS6KB2	0.53720586
66	BRD4	0.53503453
67	DAPK3	0.51851640
68	AKT2	0.49131927
69	NEK6	0.47055830
70	IRAK3	0.46777786
71	CAMKK1	0.46721451
72	ILK	0.46618667
73	ZAK	0.46181562
74	RPS6KA1	0.45218353
75	MET	0.45128730
76	DYRK2	0.41775882
77	WEE1	0.41668282
78	PIK3CA	0.41236138
79	PRKG2	0.40795703
80	PAK4	0.39068964
81	CDK9	0.38305590
82	TRIM28	0.36339377
83	TIE1	0.35258652
84	SGK2	0.35233413
85	RET	0.34185958
86	CSNK1A1L	0.31981795
87	CDK5	0.29822664
88	CAMK1D	0.28571668
89	SGK3	0.28091171
90	PLK1	0.27946359
91	PDK1	0.27111546
92	CDK4	0.25412759
93	ABL2	0.25362655
94	MAPKAPK3	0.24402917
95	ADRBK1	0.23980488
96	STK4	0.22893728
97	DYRK1B	0.21988980
98	PAK1	0.21606035
99	NME1	0.21123951
100	PTK6	0.21102075

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.63504641
2	Fructose and mannose metabolism_Homo sapiens_hsa00051	2.50387875
3	Butanoate metabolism_Homo sapiens_hsa00650	2.50162793
4	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.36627881
5	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.24950455
6	Olfactory transduction_Homo sapiens_hsa04740	1.91890068
7	Ribosome_Homo sapiens_hsa03010	1.81052526
8	Selenocompound metabolism_Homo sapiens_hsa00450	1.73083373
9	Lysine degradation_Homo sapiens_hsa00310	1.60613343
10	Basal transcription factors_Homo sapiens_hsa03022	1.58974553
11	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.49733294
12	Calcium signaling pathway_Homo sapiens_hsa04020	1.45938509
13	Gastric acid secretion_Homo sapiens_hsa04971	1.42686854
14	Other glycan degradation_Homo sapiens_hsa00511	1.41586359
15	Basal cell carcinoma_Homo sapiens_hsa05217	1.37397447
16	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.34710683
17	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.32642184
18	AMPK signaling pathway_Homo sapiens_hsa04152	1.30717526
19	ABC transporters_Homo sapiens_hsa02010	1.30543101
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.29832976
21	Circadian rhythm_Homo sapiens_hsa04710	1.29671346
22	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.27597511
23	Arginine and proline metabolism_Homo sapiens_hsa00330	1.23838343
24	Thyroid cancer_Homo sapiens_hsa05216	1.20570487
25	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.16796692
26	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.15814057
27	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.14752573
28	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.14254057
29	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.13231935
30	Circadian entrainment_Homo sapiens_hsa04713	1.13025452
31	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.12698637
32	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.11018808
33	Melanogenesis_Homo sapiens_hsa04916	1.10338812
34	RNA degradation_Homo sapiens_hsa03018	1.08236746
35	ErbB signaling pathway_Homo sapiens_hsa04012	1.08129144
36	Axon guidance_Homo sapiens_hsa04360	1.07337489
37	Sulfur relay system_Homo sapiens_hsa04122	1.06671877
38	Hippo signaling pathway_Homo sapiens_hsa04390	1.06402676
39	Endometrial cancer_Homo sapiens_hsa05213	1.04291352
40	Mineral absorption_Homo sapiens_hsa04978	1.03666592
41	Gap junction_Homo sapiens_hsa04540	1.03260964
42	Cardiac muscle contraction_Homo sapiens_hsa04260	1.01588679
43	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.99902110
44	Melanoma_Homo sapiens_hsa05218	0.97822727
45	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.96825978
46	Wnt signaling pathway_Homo sapiens_hsa04310	0.96765599
47	Oxidative phosphorylation_Homo sapiens_hsa00190	0.96299025
48	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.94805103
49	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.93996897
50	Salivary secretion_Homo sapiens_hsa04970	0.92038123
51	Alzheimers disease_Homo sapiens_hsa05010	0.91647116
52	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.91529318
53	Alcoholism_Homo sapiens_hsa05034	0.88686144
54	Glucagon signaling pathway_Homo sapiens_hsa04922	0.88061939
55	Pyruvate metabolism_Homo sapiens_hsa00620	0.87359240
56	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.86572446
57	Insulin signaling pathway_Homo sapiens_hsa04910	0.83948483
58	Notch signaling pathway_Homo sapiens_hsa04330	0.83423983
59	Nicotine addiction_Homo sapiens_hsa05033	0.80453857
60	Tight junction_Homo sapiens_hsa04530	0.80439302
61	Taste transduction_Homo sapiens_hsa04742	0.79892992
62	Phototransduction_Homo sapiens_hsa04744	0.79388839
63	Galactose metabolism_Homo sapiens_hsa00052	0.78770492
64	Fanconi anemia pathway_Homo sapiens_hsa03460	0.77583016
65	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.75927952
66	Nitrogen metabolism_Homo sapiens_hsa00910	0.74538729
67	Parkinsons disease_Homo sapiens_hsa05012	0.72783058
68	Purine metabolism_Homo sapiens_hsa00230	0.71691383
69	Cholinergic synapse_Homo sapiens_hsa04725	0.71606642
70	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.70051849
71	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.70019084
72	mRNA surveillance pathway_Homo sapiens_hsa03015	0.68545495
73	Nucleotide excision repair_Homo sapiens_hsa03420	0.68244503
74	Oocyte meiosis_Homo sapiens_hsa04114	0.66697823
75	Renin secretion_Homo sapiens_hsa04924	0.64205218
76	Fatty acid degradation_Homo sapiens_hsa00071	0.63924870
77	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.61696867
78	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.60271974
79	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.59936800
80	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.59783656
81	Insulin secretion_Homo sapiens_hsa04911	0.59428646
82	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.58682927
83	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.58341238
84	Renal cell carcinoma_Homo sapiens_hsa05211	0.57431625
85	Histidine metabolism_Homo sapiens_hsa00340	0.55973859
86	Type II diabetes mellitus_Homo sapiens_hsa04930	0.55771353
87	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.55282740
88	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.54712531
89	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.54692423
90	beta-Alanine metabolism_Homo sapiens_hsa00410	0.54427796
91	DNA replication_Homo sapiens_hsa03030	0.51985797
92	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.50549092
93	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.48806617
94	One carbon pool by folate_Homo sapiens_hsa00670	0.46657636
95	GABAergic synapse_Homo sapiens_hsa04727	0.46313440
96	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.46032990
97	Pancreatic secretion_Homo sapiens_hsa04972	0.45693983
98	Insulin resistance_Homo sapiens_hsa04931	0.45253695
99	Long-term potentiation_Homo sapiens_hsa04720	0.45024377
100	FoxO signaling pathway_Homo sapiens_hsa04068	0.44954910

ASCL5

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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