ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	nuclear pore complex assembly (GO:0051292)	6.42131524
2	nuclear pore organization (GO:0006999)	5.39957721
3	pore complex assembly (GO:0046931)	4.72407145
4	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.25976482
5	COPI coating of Golgi vesicle (GO:0048205)	4.03625587
6	Golgi transport vesicle coating (GO:0048200)	4.03625587
7	mitotic sister chromatid cohesion (GO:0007064)	4.02493274
8	actin-myosin filament sliding (GO:0033275)	4.01311674
9	muscle filament sliding (GO:0030049)	4.01311674
10	COPII vesicle coating (GO:0048208)	3.83497892
11	positive regulation of transcription from RNA polymerase III promoter (GO:0045945)	3.71479468
12	cytoskeletal anchoring at plasma membrane (GO:0007016)	3.70364795
13	regulation of RNA export from nucleus (GO:0046831)	3.69358773
14	regulation of translational fidelity (GO:0006450)	3.58790600
15	focal adhesion assembly (GO:0048041)	3.53930449
16	cell-substrate adherens junction assembly (GO:0007045)	3.53930449
17	adherens junction assembly (GO:0034333)	3.51304868
18	actin-mediated cell contraction (GO:0070252)	3.48831883
19	mitotic chromosome condensation (GO:0007076)	3.47484241
20	regulation of nucleobase-containing compound transport (GO:0032239)	3.43420717
21	regulation of NFAT protein import into nucleus (GO:0051532)	3.43037425
22	carnitine shuttle (GO:0006853)	3.35372548
23	negative regulation of DNA repair (GO:0045738)	3.33177090
24	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	3.30129607
25	cell-substrate junction assembly (GO:0007044)	3.29262898
26	cellular protein complex localization (GO:0034629)	3.27546630
27	DNA unwinding involved in DNA replication (GO:0006268)	3.22726108
28	actin filament-based movement (GO:0030048)	3.17062281
29	NLS-bearing protein import into nucleus (GO:0006607)	3.14881727
30	negative regulation of potassium ion transmembrane transport (GO:1901380)	3.13459800
31	plasma membrane repair (GO:0001778)	3.13145977
32	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.06794910
33	iron ion import (GO:0097286)	3.05602352
34	vesicle coating (GO:0006901)	3.05116040
35	protein complex localization (GO:0031503)	3.03418763
36	peptidyl-lysine dimethylation (GO:0018027)	3.02871098
37	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	3.02289200
38	skeletal muscle contraction (GO:0003009)	3.01745200
39	myofibril assembly (GO:0030239)	2.95011099
40	epithelial cell-cell adhesion (GO:0090136)	2.93912484
41	paraxial mesoderm development (GO:0048339)	2.92002715
42	hemidesmosome assembly (GO:0031581)	2.89215682
43	sarcomere organization (GO:0045214)	2.88005743
44	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.83528043
45	biotin metabolic process (GO:0006768)	2.82164839
46	glucocorticoid receptor signaling pathway (GO:0042921)	2.77646118
47	NADH metabolic process (GO:0006734)	2.77211375
48	actomyosin structure organization (GO:0031032)	2.76349061
49	cardiac myofibril assembly (GO:0055003)	2.75349486
50	regulation of glucose import in response to insulin stimulus (GO:2001273)	2.74482318
51	desmosome organization (GO:0002934)	2.73188061
52	pre-miRNA processing (GO:0031054)	2.71703136
53	dicarboxylic acid biosynthetic process (GO:0043650)	2.70667991
54	regulation of early endosome to late endosome transport (GO:2000641)	2.69298237
55	embryonic process involved in female pregnancy (GO:0060136)	2.69053645
56	regulation of histone H3-K27 methylation (GO:0061085)	2.67778405
57	skeletal muscle adaptation (GO:0043501)	2.67374477
58	peptidyl-threonine modification (GO:0018210)	2.67029369
59	protein localization to endosome (GO:0036010)	2.66514159
60	protein export from nucleus (GO:0006611)	2.62554356
61	regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043	2.61575580
62	epithelial cell differentiation involved in prostate gland development (GO:0060742)	2.60013321
63	hippo signaling (GO:0035329)	2.59183590
64	striated muscle contraction (GO:0006941)	2.54274051
65	cytoplasmic mRNA processing body assembly (GO:0033962)	2.54205257
66	peptidyl-threonine phosphorylation (GO:0018107)	2.53913192
67	negative regulation of fatty acid transport (GO:2000192)	2.50227355
68	regulation of protein polyubiquitination (GO:1902914)	2.49512521
69	fatty acid transmembrane transport (GO:1902001)	2.48527753
70	mRNA stabilization (GO:0048255)	2.48281793
71	RNA stabilization (GO:0043489)	2.48281793
72	bundle of His cell to Purkinje myocyte communication (GO:0086069)	2.43103286
73	cell adhesion mediated by integrin (GO:0033627)	2.42993775
74	histone H3-K36 demethylation (GO:0070544)	2.41517178
75	DNA duplex unwinding (GO:0032508)	2.39093992
76	regulation of mitotic spindle organization (GO:0060236)	2.38717652
77	protein localization to microtubule (GO:0035372)	2.37155812
78	negative regulation of protein localization to plasma membrane (GO:1903077)	2.36973521
79	histone H3-K9 demethylation (GO:0033169)	2.35283503
80	chemical homeostasis within a tissue (GO:0048875)	2.35258615
81	carnitine transmembrane transport (GO:1902603)	2.35019865
82	corticosteroid receptor signaling pathway (GO:0031958)	2.34475842
83	fatty acid homeostasis (GO:0055089)	2.34123647
84	regulation of relaxation of muscle (GO:1901077)	2.33554175
85	cardiac muscle contraction (GO:0060048)	2.31826110
86	folic acid-containing compound biosynthetic process (GO:0009396)	2.30645247
87	response to inactivity (GO:0014854)	2.30276276
88	regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)	2.30160311
89	endoplasmic reticulum organization (GO:0007029)	2.29168661
90	IMP metabolic process (GO:0046040)	2.29086787
91	positive regulation of glucose import (GO:0046326)	2.28781936
92	positive regulation of cellular response to insulin stimulus (GO:1900078)	2.27157336
93	activation of signaling protein activity involved in unfolded protein response (GO:0006987)	2.27127941
94	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.26874819
95	regulation of cholesterol homeostasis (GO:2000188)	2.26625363
96	ER-nucleus signaling pathway (GO:0006984)	2.26526159
97	activation of Rac GTPase activity (GO:0032863)	2.23189869
98	surfactant homeostasis (GO:0043129)	2.23163486
99	notochord development (GO:0030903)	2.22997797
100	DNA geometric change (GO:0032392)	2.22100909

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E2F7_22180533_ChIP-Seq_HELA_Human	5.79245065
2	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	4.36106553
3	AR_21909140_ChIP-Seq_LNCAP_Human	3.13698046
4	EGR1_19374776_ChIP-ChIP_THP-1_Human	3.08681248
5	TP63_17297297_ChIP-ChIP_HaCaT_Human	3.07861239
6	ZNF263_19887448_ChIP-Seq_K562_Human	3.06855209
7	CLOCK_20551151_ChIP-Seq_293T_Human	3.02404401
8	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.83433505
9	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	2.54034722
10	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	2.40185603
11	* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	2.20623077
12	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.15849816
13	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	2.05287512
14	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.96831701
15	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.89526619
16	SALL4_18804426_ChIP-ChIP_MESCs_Mouse	1.86495185
17	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.86300500
18	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.83468062
19	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.83400002
20	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.78615103
21	P300_27058665_Chip-Seq_ZR-75-30cells_Human	1.78428326
22	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.72907317
23	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.72583677
24	MYC_22102868_ChIP-Seq_BL_Human	1.71671362
25	DMRT1_23473982_ChIP-Seq_TESTES_Mouse	1.71231655
26	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.70479426
27	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.69736222
28	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.69268743
29	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.69268743
30	* CHD1_26751641_Chip-Seq_LNCaP_Human	1.68875510
31	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.63814041
32	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.62998782
33	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.62352157
34	GATA1_22025678_ChIP-Seq_K562_Human	1.60578967
35	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.56191092
36	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.54777466
37	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.54450622
38	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.54434102
39	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.54434102
40	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.52258881
41	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.51922075
42	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.49600803
43	TCF7_22412390_ChIP-Seq_EML_Mouse	1.47060537
44	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.45108468
45	RACK7_27058665_Chip-Seq_MCF-7_Human	1.44338462
46	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.42089302
47	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.40766248
48	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	1.39363007
49	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.37413793
50	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.35912017
51	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.35790608
52	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.35306841
53	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.31869814
54	* KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.30880479
55	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.30675867
56	ATF3_27146783_Chip-Seq_COLON_Human	1.29750512
57	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.27892468
58	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.27891181
59	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.27318923
60	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.26724377
61	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.25835068
62	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.24234401
63	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.23680748
64	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.23068272
65	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.22741833
66	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.21171473
67	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.20065964
68	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.19167296
69	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	1.18951161
70	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.18126970
71	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.16900809
72	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.16489722
73	KDM2B_26808549_Chip-Seq_K562_Human	1.14467525
74	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.12227456
75	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.10628989
76	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.10477084
77	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.10366200
78	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.09270070
79	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.09148324
80	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.08573036
81	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.07779054
82	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.07727180
83	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.07616528
84	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	1.06816790
85	GATA6_25053715_ChIP-Seq_YYC3_Human	1.03761033
86	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.03567430
87	NANOG_21062744_ChIP-ChIP_HESCs_Human	1.03239807
88	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.02702282
89	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.02701524
90	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.01431309
91	FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human	1.00205951
92	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.00123230
93	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	1.00117958
94	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.99334882
95	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.99030931
96	TFEB_21752829_ChIP-Seq_HELA_Human	0.97930177
97	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.97848645
98	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.97267427
99	ZFP281_27345836_Chip-Seq_ESCs_Mouse	0.97122910
100	TRIM28_21343339_ChIP-Seq_HEK293_Human	0.96969803

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003705_abnormal_hypodermis_morpholog	3.75867784
2	MP0010352_gastrointestinal_tract_polyps	3.19613195
3	MP0005451_abnormal_body_composition	3.11028767
4	MP0004233_abnormal_muscle_weight	3.09955497
5	MP0000751_myopathy	2.95964556
6	MP0010234_abnormal_vibrissa_follicle	2.91272057
7	MP0004145_abnormal_muscle_electrophysio	2.68620393
8	MP0004185_abnormal_adipocyte_glucose	2.56641177
9	MP0002877_abnormal_melanocyte_morpholog	2.49731735
10	MP0008438_abnormal_cutaneous_collagen	2.45936602
11	MP0002009_preneoplasia	2.44078969
12	MP0000747_muscle_weakness	2.43052572
13	MP0004036_abnormal_muscle_relaxation	2.41182403
14	MP0000749_muscle_degeneration	2.28170103
15	MP0004087_abnormal_muscle_fiber	2.27212048
16	MP0003566_abnormal_cell_adhesion	2.25402163
17	MP0005076_abnormal_cell_differentiation	2.21366301
18	MP0003941_abnormal_skin_development	2.17262018
19	MP0008057_abnormal_DNA_replication	2.10011528
20	MP0002269_muscular_atrophy	2.00335201
21	MP0003646_muscle_fatigue	1.99504923
22	MP0003950_abnormal_plasma_membrane	1.97783948
23	MP0000759_abnormal_skeletal_muscle	1.96765175
24	MP0004084_abnormal_cardiac_muscle	1.89315311
25	MP0004272_abnormal_basement_membrane	1.88169850
26	MP0001661_extended_life_span	1.86828903
27	MP0000537_abnormal_urethra_morphology	1.84936183
28	MP0000733_abnormal_muscle_development	1.79415143
29	MP0005666_abnormal_adipose_tissue	1.71530420
30	MP0009672_abnormal_birth_weight	1.61190241
31	MP0002106_abnormal_muscle_physiology	1.57156532
32	MP0010630_abnormal_cardiac_muscle	1.55209809
33	MP0004957_abnormal_blastocyst_morpholog	1.51952531
34	MP0005375_adipose_tissue_phenotype	1.49637978
35	MP0001730_embryonic_growth_arrest	1.47083100
36	MP0009780_abnormal_chondrocyte_physiolo	1.45123973
37	MP0000003_abnormal_adipose_tissue	1.44763729
38	MP0003091_abnormal_cell_migration	1.42247290
39	MP0002332_abnormal_exercise_endurance	1.42095197
40	MP0005275_abnormal_skin_tensile	1.40128207
41	MP0005369_muscle_phenotype	1.35627177
42	MP0000750_abnormal_muscle_regeneration	1.34243986
43	MP0003453_abnormal_keratinocyte_physiol	1.33916836
44	MP0005330_cardiomyopathy	1.33464260
45	MP0002108_abnormal_muscle_morphology	1.27305005
46	MP0003984_embryonic_growth_retardation	1.23733341
47	MP0004130_abnormal_muscle_cell	1.23554938
48	MP0002166_altered_tumor_susceptibility	1.23036083
49	MP0003111_abnormal_nucleus_morphology	1.21980462
50	MP0005409_darkened_coat_color	1.20611012
51	MP0002088_abnormal_embryonic_growth/wei	1.20001891
52	MP0006138_congestive_heart_failure	1.19308817
53	MP0002060_abnormal_skin_morphology	1.19087240
54	MP0000013_abnormal_adipose_tissue	1.16835084
55	MP0001849_ear_inflammation	1.16784845
56	MP0002796_impaired_skin_barrier	1.16438835
57	MP0001299_abnormal_eye_distance/	1.15646423
58	MP0001672_abnormal_embryogenesis/_devel	1.14876498
59	MP0005380_embryogenesis_phenotype	1.14876498
60	MP0003221_abnormal_cardiomyocyte_apopto	1.11411804
61	MP0002086_abnormal_extraembryonic_tissu	1.10720610
62	MP0010307_abnormal_tumor_latency	1.05012533
63	MP0009703_decreased_birth_body	1.04210997
64	MP0004510_myositis	1.03693011
65	MP0005623_abnormal_meninges_morphology	1.03233766
66	MP0002971_abnormal_brown_adipose	1.02830012
67	MP0005620_abnormal_muscle_contractility	1.02547355
68	MP0003693_abnormal_embryo_hatching	1.01683027
69	MP0004858_abnormal_nervous_system	1.00812490
70	MP0000350_abnormal_cell_proliferation	0.99775493
71	MP0002896_abnormal_bone_mineralization	0.97731657
72	MP0001915_intracranial_hemorrhage	0.94696676
73	MP0002006_tumorigenesis	0.94198530
74	MP0002080_prenatal_lethality	0.93515339
75	MP0004197_abnormal_fetal_growth/weight/	0.93161416
76	MP0004808_abnormal_hematopoietic_stem	0.92377511
77	MP0002972_abnormal_cardiac_muscle	0.91613819
78	MP0004264_abnormal_extraembryonic_tissu	0.90724227
79	MP0003300_gastrointestinal_ulcer	0.90250432
80	MP0003656_abnormal_erythrocyte_physiolo	0.89294522
81	MP0002084_abnormal_developmental_patter	0.89053066
82	MP0001697_abnormal_embryo_size	0.88803113
83	MP0003868_abnormal_feces_composition	0.87836349
84	MP0003077_abnormal_cell_cycle	0.87242425
85	MP0010678_abnormal_skin_adnexa	0.85832340
86	MP0000428_abnormal_craniofacial_morphol	0.85577664
87	MP0005621_abnormal_cell_physiology	0.85302312
88	MP0005023_abnormal_wound_healing	0.78759605
89	MP0010368_abnormal_lymphatic_system	0.76693499
90	MP0004782_abnormal_surfactant_physiolog	0.76468434
91	MP0000266_abnormal_heart_morphology	0.75762477
92	MP0000579_abnormal_nail_morphology	0.75396178
93	MP0003890_abnormal_embryonic-extraembry	0.74871287
94	MP0004270_analgesia	0.73527305
95	MP0008007_abnormal_cellular_replicative	0.71619813
96	MP0002085_abnormal_embryonic_tissue	0.70400621
97	MP0005501_abnormal_skin_physiology	0.68403764
98	MP0000762_abnormal_tongue_morphology	0.67268033
99	MP0005257_abnormal_intraocular_pressure	0.65937589
100	MP0002089_abnormal_postnatal_growth/wei	0.65278655

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	5.07673917
2	Muscle fiber inclusion bodies (HP:0100299)	5.02748744
3	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.02146619
4	Exercise-induced myalgia (HP:0003738)	4.36062858
5	Type 1 muscle fiber predominance (HP:0003803)	4.28004725
6	Increased connective tissue (HP:0009025)	3.50395434
7	Exercise-induced muscle cramps (HP:0003710)	3.45728849
8	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.34508297
9	Dysmetric saccades (HP:0000641)	3.20719681
10	Muscle hypertrophy of the lower extremities (HP:0008968)	3.07240447
11	Calf muscle hypertrophy (HP:0008981)	3.05611988
12	Difficulty running (HP:0009046)	3.03107292
13	Hyporeflexia of lower limbs (HP:0002600)	2.96728362
14	Distal arthrogryposis (HP:0005684)	2.84169944
15	Distal lower limb amyotrophy (HP:0008944)	2.82298787
16	EMG: myopathic abnormalities (HP:0003458)	2.79389917
17	Subaortic stenosis (HP:0001682)	2.73048531
18	Abnormality of the left ventricular outflow tract (HP:0011103)	2.73048531
19	Abnormality of skeletal muscle fiber size (HP:0012084)	2.68955079
20	Increased variability in muscle fiber diameter (HP:0003557)	2.55508272
21	Myopathic facies (HP:0002058)	2.54952146
22	Round ear (HP:0100830)	2.53506986
23	Insidious onset (HP:0003587)	2.51208718
24	Termporal pattern (HP:0011008)	2.51208718
25	Abnormality of the calcaneus (HP:0008364)	2.51118402
26	Calcaneovalgus deformity (HP:0001848)	2.50495392
27	Abnormality of the calf musculature (HP:0001430)	2.49725315
28	Myoglobinuria (HP:0002913)	2.48553575
29	Right ventricular cardiomyopathy (HP:0011663)	2.41797064
30	Protrusio acetabuli (HP:0003179)	2.40761911
31	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.37328943
32	Osteolytic defects of the hand bones (HP:0009699)	2.37328943
33	Flat acetabular roof (HP:0003180)	2.36800233
34	Premature rupture of membranes (HP:0001788)	2.35202869
35	Lower limb amyotrophy (HP:0007210)	2.35109154
36	Hyperacusis (HP:0010780)	2.34395730
37	Spinal rigidity (HP:0003306)	2.31122523
38	Mildly elevated creatine phosphokinase (HP:0008180)	2.27471264
39	Ankyloglossia (HP:0010296)	2.25350978
40	Neck muscle weakness (HP:0000467)	2.24493451
41	Bundle branch block (HP:0011710)	2.22417126
42	Advanced eruption of teeth (HP:0006288)	2.19958788
43	Rimmed vacuoles (HP:0003805)	2.17627526
44	Distal lower limb muscle weakness (HP:0009053)	2.14217748
45	Rhabdomyolysis (HP:0003201)	2.11383292
46	Ulnar deviation of the wrist (HP:0003049)	2.08066808
47	Cerebral aneurysm (HP:0004944)	2.06587507
48	Deformed tarsal bones (HP:0008119)	2.04448819
49	Sudden death (HP:0001699)	2.02334687
50	Achilles tendon contracture (HP:0001771)	2.00737791
51	Muscle fiber splitting (HP:0003555)	1.93419497
52	Back pain (HP:0003418)	1.92832220
53	Scapular winging (HP:0003691)	1.91210562
54	Broad face (HP:0000283)	1.90730887
55	Progressive muscle weakness (HP:0003323)	1.90062649
56	Asymmetry of the thorax (HP:0001555)	1.88260971
57	Breech presentation (HP:0001623)	1.87290030
58	Abnormality of the Achilles tendon (HP:0005109)	1.87248760
59	Abnormality of oral frenula (HP:0000190)	1.84743126
60	Frequent falls (HP:0002359)	1.83671489
61	Ulnar bowing (HP:0003031)	1.83511386
62	Overgrowth (HP:0001548)	1.80616049
63	Asymmetric septal hypertrophy (HP:0001670)	1.79197699
64	Difficulty climbing stairs (HP:0003551)	1.78970612
65	Abnormality of the distal phalanx of the thumb (HP:0009617)	1.78117452
66	Progressive external ophthalmoplegia (HP:0000590)	1.77539901
67	Ventricular tachycardia (HP:0004756)	1.77250664
68	Relative macrocephaly (HP:0004482)	1.75345964
69	Short nail (HP:0001799)	1.74688427
70	Hyperkalemia (HP:0002153)	1.74491765
71	Deep philtrum (HP:0002002)	1.72845823
72	Vertebral arch anomaly (HP:0008438)	1.72714497
73	Papillary thyroid carcinoma (HP:0002895)	1.72605801
74	Syringomyelia (HP:0003396)	1.71193841
75	Spinal cord lesions (HP:0100561)	1.71193841
76	Hammertoe (HP:0001765)	1.68273796
77	Natal tooth (HP:0000695)	1.67439328
78	Persistence of primary teeth (HP:0006335)	1.66737728
79	Tetraparesis (HP:0002273)	1.64909226
80	Arterial tortuosity (HP:0005116)	1.64488333
81	Cubitus valgus (HP:0002967)	1.63579408
82	Pelvic girdle muscle weakness (HP:0003749)	1.63069113
83	Abnormality of the salivary glands (HP:0010286)	1.62597083
84	Shallow orbits (HP:0000586)	1.60828681
85	Sparse lateral eyebrow (HP:0005338)	1.60438209
86	EMG: neuropathic changes (HP:0003445)	1.58344471
87	Muscle stiffness (HP:0003552)	1.57944877
88	Metatarsus adductus (HP:0001840)	1.57668382
89	Heterotopia (HP:0002282)	1.57557734
90	Aortic aneurysm (HP:0004942)	1.56873926
91	Wormian bones (HP:0002645)	1.56822134
92	Abnormal foot bone ossification (HP:0010675)	1.55614477
93	Bulbar palsy (HP:0001283)	1.55208792
94	Insomnia (HP:0100785)	1.54674468
95	Macroorchidism (HP:0000053)	1.53710844
96	Malignant hyperthermia (HP:0002047)	1.53646387
97	Vascular tortuosity (HP:0004948)	1.53580910
98	Atrophic scars (HP:0001075)	1.51812511
99	Shoulder girdle muscle weakness (HP:0003547)	1.50266418
100	Dilated cardiomyopathy (HP:0001644)	1.49704601

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EEF2K	4.22227345
2	TTN	3.64320980
3	OBSCN	3.52714622
4	SCYL2	3.00987001
5	TRIB3	2.91257287
6	CAMK1D	2.85783506
7	CDK12	2.80089982
8	CAMK1G	2.56233734
9	ICK	2.33047567
10	PDGFRA	2.21590102
11	SMG1	2.13988780
12	LATS2	2.11632777
13	RIPK1	2.10073507
14	LATS1	1.94839340
15	IRAK3	1.76735368
16	MST1R	1.70426919
17	PRPF4B	1.59289536
18	TRPM7	1.52549082
19	PHKG2	1.50769605
20	PHKG1	1.50769605
21	MTOR	1.50747904
22	FGFR4	1.47442115
23	TTK	1.42096406
24	KSR2	1.36895721
25	MAP3K10	1.31369201
26	BRD4	1.31100891
27	MET	1.26487083
28	NEK1	1.19650444
29	DMPK	1.17565347
30	TSSK6	1.17306002
31	MAP3K9	1.17012829
32	RPS6KB2	1.16780777
33	NEK9	1.16614680
34	PTK2	1.09948681
35	SIK1	1.04716019
36	SGK3	1.02139610
37	AKT3	1.00733824
38	EIF2AK1	0.99904614
39	PKN2	0.98662377
40	FGFR3	0.97550558
41	FER	0.97082198
42	PAK2	0.94258230
43	PBK	0.92382765
44	PRKAA2	0.89426941
45	MARK2	0.87879798
46	MAP3K13	0.84854920
47	PDGFRB	0.84429001
48	RAF1	0.76935132
49	MAP3K2	0.75523168
50	MAP3K7	0.74361219
51	STK3	0.73997524
52	NTRK1	0.73665959
53	PAK4	0.73617314
54	TAOK1	0.72610947
55	MOS	0.72563196
56	BRAF	0.71973164
57	WNK1	0.71667500
58	CDK6	0.69043672
59	DDR2	0.66797547
60	ERBB4	0.66558421
61	MAPK10	0.66179911
62	EIF2AK3	0.64866498
63	ALK	0.64853294
64	MELK	0.63472891
65	AKT2	0.61793599
66	PRKAA1	0.60816844
67	MAP3K8	0.59151168
68	MAP2K3	0.56716905
69	PRKD3	0.56421186
70	MAP3K6	0.55259991
71	ARAF	0.54118113
72	PIK3CG	0.53674167
73	SGK2	0.52120352
74	CHEK1	0.52062402
75	RPS6KB1	0.51711166
76	KSR1	0.50902000
77	PTK6	0.50812728
78	CDC42BPA	0.50773608
79	BMX	0.49500516
80	FGFR1	0.47391848
81	RET	0.46814190
82	EPHA2	0.46700064
83	STK24	0.46375760
84	MAPK11	0.44524790
85	TYRO3	0.42743242
86	CDC7	0.42014994
87	NME2	0.41334076
88	CDK7	0.39240839
89	CLK1	0.38098452
90	CDK1	0.37156709
91	PDPK1	0.36986263
92	MAP3K1	0.36426540
93	PRKD2	0.35627737
94	PRKDC	0.35142469
95	MAP2K1	0.34550592
96	ATM	0.34159812
97	CDK4	0.34103376
98	YES1	0.32243710
99	CDK2	0.31756419
100	JAK1	0.31583476

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.29651583
2	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.03982672
3	Adherens junction_Homo sapiens_hsa04520	1.98575448
4	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.92218897
5	Thyroid cancer_Homo sapiens_hsa05216	1.81168170
6	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.76229354
7	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.71174264
8	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.70404451
9	Insulin signaling pathway_Homo sapiens_hsa04910	1.68305748
10	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.66734465
11	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.66557560
12	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.63491560
13	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.61804110
14	Chronic myeloid leukemia_Homo sapiens_hsa05220	1.61100015
15	Central carbon metabolism in cancer_Homo sapiens_hsa05230	1.60814558
16	Focal adhesion_Homo sapiens_hsa04510	1.48086276
17	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.47902213
18	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	1.41858189
19	Lysine degradation_Homo sapiens_hsa00310	1.38696259
20	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.37777465
21	Glucagon signaling pathway_Homo sapiens_hsa04922	1.37404569
22	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.36842378
23	Endometrial cancer_Homo sapiens_hsa05213	1.36659169
24	Proteoglycans in cancer_Homo sapiens_hsa05205	1.34739108
25	Pentose phosphate pathway_Homo sapiens_hsa00030	1.34412323
26	AMPK signaling pathway_Homo sapiens_hsa04152	1.33977543
27	Insulin resistance_Homo sapiens_hsa04931	1.32380997
28	Pancreatic cancer_Homo sapiens_hsa05212	1.28290755
29	mTOR signaling pathway_Homo sapiens_hsa04150	1.26879604
30	Prostate cancer_Homo sapiens_hsa05215	1.26587148
31	VEGF signaling pathway_Homo sapiens_hsa04370	1.26517501
32	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.24757863
33	Carbon metabolism_Homo sapiens_hsa01200	1.23990037
34	Arginine biosynthesis_Homo sapiens_hsa00220	1.23917401
35	ECM-receptor interaction_Homo sapiens_hsa04512	1.23632271
36	Bladder cancer_Homo sapiens_hsa05219	1.23414906
37	Non-small cell lung cancer_Homo sapiens_hsa05223	1.23401650
38	Small cell lung cancer_Homo sapiens_hsa05222	1.20934278
39	Glioma_Homo sapiens_hsa05214	1.20258721
40	MicroRNAs in cancer_Homo sapiens_hsa05206	1.20063946
41	Tight junction_Homo sapiens_hsa04530	1.19973526
42	Renal cell carcinoma_Homo sapiens_hsa05211	1.17002286
43	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.16547993
44	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.16335860
45	Long-term potentiation_Homo sapiens_hsa04720	1.12529527
46	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.10390146
47	ErbB signaling pathway_Homo sapiens_hsa04012	1.09970316
48	GnRH signaling pathway_Homo sapiens_hsa04912	1.08952966
49	Circadian rhythm_Homo sapiens_hsa04710	1.05464166
50	Amoebiasis_Homo sapiens_hsa05146	1.01132510
51	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.99697160
52	Acute myeloid leukemia_Homo sapiens_hsa05221	0.98016283
53	Prion diseases_Homo sapiens_hsa05020	0.95216502
54	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.93455648
55	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.90365410
56	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.87791804
57	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.87281442
58	Pyruvate metabolism_Homo sapiens_hsa00620	0.87082653
59	Colorectal cancer_Homo sapiens_hsa05210	0.83028561
60	Prolactin signaling pathway_Homo sapiens_hsa04917	0.82597837
61	Estrogen signaling pathway_Homo sapiens_hsa04915	0.79502142
62	mRNA surveillance pathway_Homo sapiens_hsa03015	0.79381461
63	Galactose metabolism_Homo sapiens_hsa00052	0.78791017
64	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.78720647
65	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.77958033
66	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.76429580
67	Renin-angiotensin system_Homo sapiens_hsa04614	0.76071864
68	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.76045480
69	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.75864622
70	FoxO signaling pathway_Homo sapiens_hsa04068	0.74420285
71	Type II diabetes mellitus_Homo sapiens_hsa04930	0.71117056
72	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.70646881
73	Fatty acid metabolism_Homo sapiens_hsa01212	0.66878536
74	Choline metabolism in cancer_Homo sapiens_hsa05231	0.65305506
75	Arginine and proline metabolism_Homo sapiens_hsa00330	0.64602173
76	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.61442696
77	Cell cycle_Homo sapiens_hsa04110	0.61133076
78	Viral carcinogenesis_Homo sapiens_hsa05203	0.58404750
79	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.57615065
80	Gap junction_Homo sapiens_hsa04540	0.57591909
81	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.57214816
82	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.56651832
83	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.55545953
84	Hepatitis C_Homo sapiens_hsa05160	0.55069443
85	Long-term depression_Homo sapiens_hsa04730	0.53752919
86	Hippo signaling pathway_Homo sapiens_hsa04390	0.52687982
87	Melanoma_Homo sapiens_hsa05218	0.52432140
88	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.52143961
89	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.52096069
90	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.50852907
91	Other glycan degradation_Homo sapiens_hsa00511	0.50817924
92	RNA transport_Homo sapiens_hsa03013	0.50752757
93	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.49918709
94	Notch signaling pathway_Homo sapiens_hsa04330	0.49517494
95	One carbon pool by folate_Homo sapiens_hsa00670	0.49045717
96	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.47116455
97	Pathways in cancer_Homo sapiens_hsa05200	0.46541220
98	Oocyte meiosis_Homo sapiens_hsa04114	0.46368453
99	Phenylalanine metabolism_Homo sapiens_hsa00360	0.45765930
100	Non-homologous end-joining_Homo sapiens_hsa03450	0.44032630

KIAA0368

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)

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