ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosome assembly (GO:0042255)	5.83205573
2	cullin deneddylation (GO:0010388)	5.35527305
3	protein deneddylation (GO:0000338)	5.01305974
4	CENP-A containing nucleosome assembly (GO:0034080)	4.11466736
5	chromatin remodeling at centromere (GO:0031055)	3.93494556
6	DNA double-strand break processing (GO:0000729)	3.88464732
7	ribonucleoprotein complex disassembly (GO:0032988)	3.86022308
8	formation of translation preinitiation complex (GO:0001731)	3.81573074
9	purine nucleotide salvage (GO:0032261)	3.75364462
10	IMP metabolic process (GO:0046040)	3.66880063
11	IMP biosynthetic process (GO:0006188)	3.61587117
12	branched-chain amino acid catabolic process (GO:0009083)	3.61495393
13	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.61133867
14	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.61133867
15	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.43512521
16	organelle disassembly (GO:1903008)	3.42427983
17	proteasome assembly (GO:0043248)	3.40406721
18	magnesium ion transport (GO:0015693)	3.39569755
19	rRNA methylation (GO:0031167)	3.30305279
20	protein K11-linked ubiquitination (GO:0070979)	3.24752371
21	rRNA modification (GO:0000154)	3.24720146
22	purine nucleobase biosynthetic process (GO:0009113)	3.21805478
23	ubiquinone biosynthetic process (GO:0006744)	3.20146600
24	histone exchange (GO:0043486)	3.19939423
25	DNA ligation (GO:0006266)	3.19246171
26	positive regulation of catecholamine secretion (GO:0033605)	3.18859898
27	adenosine metabolic process (GO:0046085)	3.14104807
28	DNA replication-independent nucleosome organization (GO:0034724)	3.12487200
29	DNA replication-independent nucleosome assembly (GO:0006336)	3.12487200
30	ubiquinone metabolic process (GO:0006743)	3.12451154
31	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.05983592
32	AMP metabolic process (GO:0046033)	3.05874446
33	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.05318763
34	DNA replication checkpoint (GO:0000076)	3.05232564
35	negative regulation of neurotransmitter secretion (GO:0046929)	3.01947367
36	establishment of integrated proviral latency (GO:0075713)	2.99597933
37	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.99580126
38	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.98356690
39	folic acid-containing compound biosynthetic process (GO:0009396)	2.96781738
40	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.96130689
41	positive regulation of histone H3-K4 methylation (GO:0051571)	2.86660390
42	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.85448841
43	deoxyribonucleotide biosynthetic process (GO:0009263)	2.85049790
44	protein targeting to mitochondrion (GO:0006626)	2.82419139
45	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.82389202
46	chaperone-mediated protein transport (GO:0072321)	2.82133600
47	protein localization to mitochondrion (GO:0070585)	2.80003817
48	spermatid nucleus differentiation (GO:0007289)	2.79972033
49	histone mRNA metabolic process (GO:0008334)	2.79810184
50	ribosome biogenesis (GO:0042254)	2.77756741
51	regulation of Golgi to plasma membrane protein transport (GO:0042996)	2.77492034
52	negative regulation of DNA recombination (GO:0045910)	2.77479978
53	inner mitochondrial membrane organization (GO:0007007)	2.76697490
54	termination of RNA polymerase II transcription (GO:0006369)	2.75873926
55	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.74584213
56	negative regulation of mitotic metaphase/anaphase transition (GO:0045841)	2.74574879
57	negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)	2.74574879
58	negative regulation of mitotic sister chromatid segregation (GO:0033048)	2.74574879
59	negative regulation of mitotic sister chromatid separation (GO:2000816)	2.74574879
60	negative regulation of sister chromatid segregation (GO:0033046)	2.74574879
61	negative regulation of ligase activity (GO:0051352)	2.74341253
62	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.74341253
63	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.74136731
64	mitotic metaphase plate congression (GO:0007080)	2.74119225
65	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.72366583
66	mitotic spindle checkpoint (GO:0071174)	2.71327484
67	female gonad development (GO:0008585)	2.71006530
68	metaphase plate congression (GO:0051310)	2.70634310
69	negative regulation of chromosome segregation (GO:0051985)	2.69665085
70	regulation of mitochondrial translation (GO:0070129)	2.69308158
71	establishment of protein localization to mitochondrion (GO:0072655)	2.68971092
72	spindle assembly checkpoint (GO:0071173)	2.68309677
73	tricarboxylic acid cycle (GO:0006099)	2.68248283
74	actin-myosin filament sliding (GO:0033275)	2.65767392
75	muscle filament sliding (GO:0030049)	2.65767392
76	DNA catabolic process, exonucleolytic (GO:0000738)	2.65202043
77	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.65072499
78	mitotic spindle assembly checkpoint (GO:0007094)	2.64678725
79	mitotic sister chromatid segregation (GO:0000070)	2.64166486
80	base-excision repair, AP site formation (GO:0006285)	2.64037123
81	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.62856908
82	pyrimidine nucleotide catabolic process (GO:0006244)	2.60230587
83	spindle checkpoint (GO:0031577)	2.60228593
84	negative regulation of amino acid transport (GO:0051956)	2.60186281
85	pseudouridine synthesis (GO:0001522)	2.59406762
86	pteridine-containing compound biosynthetic process (GO:0042559)	2.59173487
87	regulation of sister chromatid segregation (GO:0033045)	2.58869870
88	regulation of mitotic sister chromatid separation (GO:0010965)	2.58869870
89	regulation of mitotic sister chromatid segregation (GO:0033047)	2.58869870
90	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.58866647
91	branched-chain amino acid metabolic process (GO:0009081)	2.58527072
92	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.57704370
93	maturation of 5.8S rRNA (GO:0000460)	2.55943896
94	purine-containing compound salvage (GO:0043101)	2.55044397
95	regulation of metaphase/anaphase transition of cell cycle (GO:1902099)	2.52757232
96	regulation of mitotic metaphase/anaphase transition (GO:0030071)	2.52757232
97	attachment of spindle microtubules to kinetochore (GO:0008608)	2.50616835
98	tRNA aminoacylation for protein translation (GO:0006418)	2.50459355
99	mitotic G2/M transition checkpoint (GO:0044818)	2.50385289
100	preassembly of GPI anchor in ER membrane (GO:0016254)	2.50171581

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.53749007
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.80222850
3	E2F7_22180533_ChIP-Seq_HELA_Human	3.04008510
4	ELK1_19687146_ChIP-ChIP_HELA_Human	2.96899025
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.84489128
6	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.76447679
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.75162403
8	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.74520520
9	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.65808134
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.41996169
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.40303855
12	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.37193328
13	EWS_26573619_Chip-Seq_HEK293_Human	2.33581016
14	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.32250201
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.31614577
16	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.31575745
17	IGF1R_20145208_ChIP-Seq_DFB_Human	2.29676198
18	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.28283329
19	VDR_23849224_ChIP-Seq_CD4+_Human	2.27216868
20	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	2.26020317
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.21316461
22	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.14557232
23	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	2.08155682
24	FUS_26573619_Chip-Seq_HEK293_Human	2.06317567
25	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.87917293
26	AR_21909140_ChIP-Seq_LNCAP_Human	1.87653970
27	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.82612411
28	FOXP3_21729870_ChIP-Seq_TREG_Human	1.80405468
29	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.79997864
30	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.76199290
31	DCP1A_22483619_ChIP-Seq_HELA_Human	1.75356991
32	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.68292046
33	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.66224822
34	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.65428817
35	ZNF274_21170338_ChIP-Seq_K562_Hela	1.64463895
36	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.64049283
37	MYC_18940864_ChIP-ChIP_HL60_Human	1.62364541
38	VDR_22108803_ChIP-Seq_LS180_Human	1.59748462
39	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.59371013
40	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.58492310
41	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.57943880
42	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.55679265
43	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.54380716
44	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.54336104
45	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.53311726
46	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.52390317
47	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.51869297
48	GABP_19822575_ChIP-Seq_HepG2_Human	1.49181661
49	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.42303353
50	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.40996002
51	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.40439493
52	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.36786164
53	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.36424433
54	TTF2_22483619_ChIP-Seq_HELA_Human	1.35083482
55	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.33259515
56	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.32256803
57	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.31070474
58	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.28755223
59	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.28295944
60	TAF15_26573619_Chip-Seq_HEK293_Human	1.27063276
61	P300_19829295_ChIP-Seq_ESCs_Human	1.26746686
62	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.25811584
63	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.21923115
64	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.21122304
65	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.21091857
66	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.19984891
67	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.19559002
68	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	1.17539331
69	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.16610512
70	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.14863151
71	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.13965663
72	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.13693567
73	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.13249677
74	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.12915207
75	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.12705812
76	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.12406678
77	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.12221621
78	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.00678146
79	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	0.99307020
80	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.99293055
81	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.99261136
82	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.98016797
83	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97544585
84	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.97441358
85	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.96504818
86	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.96274145
87	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.95446004
88	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.95299823
89	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	0.95252404
90	XRN2_22483619_ChIP-Seq_HELA_Human	0.91538818
91	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.91221122
92	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.90939856
93	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.89824043
94	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.89625857
95	* BRD4_25478319_ChIP-Seq_HGPS_Human	0.88409080
96	JUN_21703547_ChIP-Seq_K562_Human	0.88322322
97	TP53_22573176_ChIP-Seq_HFKS_Human	0.87683867
98	TRIM28_19339689_ChIP-ChIP_MESCs_Mouse	0.86146515
99	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.85810398
100	CDX2_22108803_ChIP-Seq_LS180_Human	0.84524507

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004145_abnormal_muscle_electrophysio	2.97365590
2	MP0000749_muscle_degeneration	2.94999461
3	MP0004957_abnormal_blastocyst_morpholog	2.92301286
4	MP0008058_abnormal_DNA_repair	2.81016463
5	MP0003786_premature_aging	2.70111622
6	MP0009697_abnormal_copulation	2.67360627
7	MP0010094_abnormal_chromosome_stability	2.46460776
8	MP0002837_dystrophic_cardiac_calcinosis	2.41954526
9	MP0006054_spinal_hemorrhage	2.28496125
10	MP0006036_abnormal_mitochondrial_physio	2.17539804
11	MP0008995_early_reproductive_senescence	2.16171319
12	MP0008007_abnormal_cellular_replicative	2.14886108
13	MP0001661_extended_life_span	2.09448583
14	MP0004215_abnormal_myocardial_fiber	2.07018747
15	MP0008932_abnormal_embryonic_tissue	2.06829717
16	MP0001188_hyperpigmentation	1.95454995
17	MP0006072_abnormal_retinal_apoptosis	1.91111845
18	MP0003890_abnormal_embryonic-extraembry	1.89928281
19	MP0003806_abnormal_nucleotide_metabolis	1.87539156
20	MP0006035_abnormal_mitochondrial_morpho	1.84410514
21	MP0003941_abnormal_skin_development	1.80280571
22	MP0003111_abnormal_nucleus_morphology	1.74704084
23	MP0002269_muscular_atrophy	1.72758422
24	MP0003077_abnormal_cell_cycle	1.67361924
25	MP0003693_abnormal_embryo_hatching	1.65500253
26	MP0000751_myopathy	1.60895988
27	MP0008057_abnormal_DNA_replication	1.57829579
28	MP0003186_abnormal_redox_activity	1.57686467
29	MP0010352_gastrointestinal_tract_polyps	1.55068663
30	MP0002234_abnormal_pharynx_morphology	1.54837046
31	MP0002160_abnormal_reproductive_system	1.52772850
32	MP0003221_abnormal_cardiomyocyte_apopto	1.51356973
33	MP0000747_muscle_weakness	1.49318577
34	MP0002102_abnormal_ear_morphology	1.49147611
35	MP0001984_abnormal_olfaction	1.46027924
36	MP0003567_abnormal_fetal_cardiomyocyte	1.43880172
37	MP0003937_abnormal_limbs/digits/tail_de	1.35952773
38	MP0000013_abnormal_adipose_tissue	1.34875919
39	MP0000516_abnormal_urinary_system	1.32944500
40	MP0005367_renal/urinary_system_phenotyp	1.32944500
41	MP0000372_irregular_coat_pigmentation	1.29711771
42	MP0000358_abnormal_cell_content/	1.28752661
43	MP0004142_abnormal_muscle_tone	1.28114781
44	MP0006276_abnormal_autonomic_nervous	1.23848870
45	MP0001529_abnormal_vocalization	1.23153696
46	MP0000759_abnormal_skeletal_muscle	1.21614613
47	MP0002106_abnormal_muscle_physiology	1.21391336
48	MP0002877_abnormal_melanocyte_morpholog	1.20935175
49	MP0004147_increased_porphyrin_level	1.18816849
50	MP0000647_abnormal_sebaceous_gland	1.16741122
51	MP0000750_abnormal_muscle_regeneration	1.15409718
52	MP0003718_maternal_effect	1.12822775
53	MP0002009_preneoplasia	1.12727432
54	MP0001293_anophthalmia	1.11382017
55	MP0002163_abnormal_gland_morphology	1.10905463
56	MP0005369_muscle_phenotype	1.10305702
57	MP0005620_abnormal_muscle_contractility	1.10090261
58	MP0005253_abnormal_eye_physiology	1.09704339
59	MP0005330_cardiomyopathy	1.08655298
60	MP0001730_embryonic_growth_arrest	1.03952806
61	MP0005266_abnormal_metabolism	1.03098066
62	MP0004087_abnormal_muscle_fiber	1.01732357
63	MP0005187_abnormal_penis_morphology	1.01631915
64	MP0003121_genomic_imprinting	1.00101564
65	MP0004036_abnormal_muscle_relaxation	0.98947474
66	MP0008961_abnormal_basal_metabolism	0.98855303
67	MP0008877_abnormal_DNA_methylation	0.95289430
68	MP0001542_abnormal_bone_strength	0.95161699
69	MP0002277_abnormal_respiratory_mucosa	0.92446368
70	MP0003119_abnormal_digestive_system	0.92115117
71	MP0002972_abnormal_cardiac_muscle	0.91678623
72	MP0000350_abnormal_cell_proliferation	0.91159227
73	MP0005389_reproductive_system_phenotype	0.90077621
74	MP0002177_abnormal_outer_ear	0.89508664
75	MP0001727_abnormal_embryo_implantation	0.88946164
76	MP0002396_abnormal_hematopoietic_system	0.88661102
77	MP0005332_abnormal_amino_acid	0.87627045
78	MP0003755_abnormal_palate_morphology	0.87088486
79	MP0005220_abnormal_exocrine_pancreas	0.86751438
80	MP0002090_abnormal_vision	0.83648493
81	MP0004084_abnormal_cardiac_muscle	0.83327278
82	MP0009250_abnormal_appendicular_skeleto	0.81594378
83	MP0001672_abnormal_embryogenesis/_devel	0.80713483
84	MP0005380_embryogenesis_phenotype	0.80713483
85	MP0002084_abnormal_developmental_patter	0.78739315
86	MP0001929_abnormal_gametogenesis	0.74452984
87	MP0002127_abnormal_cardiovascular_syste	0.73608135
88	MP0000762_abnormal_tongue_morphology	0.72419173
89	MP0004134_abnormal_chest_morphology	0.70306786
90	MP0004484_altered_response_of	0.70303241
91	MP0004197_abnormal_fetal_growth/weight/	0.70219335
92	MP0000631_abnormal_neuroendocrine_gland	0.70004042
93	MP0001286_abnormal_eye_development	0.69310867
94	MP0001697_abnormal_embryo_size	0.68410621
95	MP0002938_white_spotting	0.68346338
96	MP0002080_prenatal_lethality	0.67518873
97	MP0002822_catalepsy	0.67398869
98	MP0000049_abnormal_middle_ear	0.67206265
99	MP0002132_abnormal_respiratory_system	0.67193817
100	MP0001299_abnormal_eye_distance/	0.66403404

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	4.29582081
2	Muscle fiber inclusion bodies (HP:0100299)	4.15737659
3	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	4.02466601
4	Exercise-induced muscle cramps (HP:0003710)	4.00235142
5	Abnormality of alanine metabolism (HP:0010916)	3.94945495
6	Hyperalaninemia (HP:0003348)	3.94945495
7	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.94945495
8	Shoulder girdle muscle weakness (HP:0003547)	3.33594420
9	Increased serum pyruvate (HP:0003542)	3.30618141
10	Abnormality of the hip-girdle musculature (HP:0001445)	3.11976816
11	Abnormality of the musculature of the pelvis (HP:0001469)	3.11976816
12	Cerebral edema (HP:0002181)	3.09708711
13	Calf muscle hypertrophy (HP:0008981)	3.08379041
14	Acute necrotizing encephalopathy (HP:0006965)	3.08157427
15	Muscle hypertrophy of the lower extremities (HP:0008968)	3.03141595
16	Rimmed vacuoles (HP:0003805)	2.99461806
17	Increased hepatocellular lipid droplets (HP:0006565)	2.91154521
18	Pelvic girdle muscle weakness (HP:0003749)	2.86451758
19	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.78944199
20	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.78944199
21	Acute encephalopathy (HP:0006846)	2.78840559
22	Abnormal mitochondria in muscle tissue (HP:0008316)	2.74965256
23	Abnormality of glycolysis (HP:0004366)	2.74859233
24	Progressive macrocephaly (HP:0004481)	2.69635617
25	Lactic acidosis (HP:0003128)	2.69631112
26	Methylmalonic acidemia (HP:0002912)	2.68992604
27	Myoglobinuria (HP:0002913)	2.66960073
28	Type 1 muscle fiber predominance (HP:0003803)	2.63156960
29	Delayed gross motor development (HP:0002194)	2.57308717
30	Rhabdomyolysis (HP:0003201)	2.56331640
31	Lipid accumulation in hepatocytes (HP:0006561)	2.51906902
32	Mitochondrial inheritance (HP:0001427)	2.51380607
33	Increased CSF lactate (HP:0002490)	2.42469451
34	Azoospermia (HP:0000027)	2.40858696
35	Exercise intolerance (HP:0003546)	2.37869146
36	Limb-girdle muscle atrophy (HP:0003797)	2.35785662
37	Deformed tarsal bones (HP:0008119)	2.35062477
38	Increased intramyocellular lipid droplets (HP:0012240)	2.33621546
39	Constricted visual fields (HP:0001133)	2.33584510
40	Distal arthrogryposis (HP:0005684)	2.29543167
41	Abnormality of the renal collecting system (HP:0004742)	2.28791834
42	Increased serum lactate (HP:0002151)	2.28153972
43	Abnormality of the calf musculature (HP:0001430)	2.25937018
44	Palpitations (HP:0001962)	2.25143011
45	Calcaneovalgus deformity (HP:0001848)	2.24032819
46	EMG: myopathic abnormalities (HP:0003458)	2.21046812
47	Abnormal spermatogenesis (HP:0008669)	2.20752065
48	Abnormality of the left ventricular outflow tract (HP:0011103)	2.15979665
49	Subaortic stenosis (HP:0001682)	2.15979665
50	Abnormality of serum amino acid levels (HP:0003112)	2.09293444
51	Hypoglycemic coma (HP:0001325)	2.07551752
52	Ketosis (HP:0001946)	2.07282555
53	Hepatic necrosis (HP:0002605)	2.06174294
54	Supernumerary spleens (HP:0009799)	2.02866402
55	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.02746358
56	Metaphyseal dysplasia (HP:0100255)	2.02683581
57	Renal Fanconi syndrome (HP:0001994)	2.02582506
58	Medial flaring of the eyebrow (HP:0010747)	2.01370721
59	Thyroid carcinoma (HP:0002890)	1.97169661
60	Methylmalonic aciduria (HP:0012120)	1.96003088
61	Respiratory failure (HP:0002878)	1.93989741
62	Hyperinsulinemic hypoglycemia (HP:0000825)	1.92775553
63	Degeneration of anterior horn cells (HP:0002398)	1.92472238
64	Abnormality of the anterior horn cell (HP:0006802)	1.92472238
65	Papillary thyroid carcinoma (HP:0002895)	1.92454232
66	Abnormality of the labia minora (HP:0012880)	1.88671449
67	Limb-girdle muscle weakness (HP:0003325)	1.85965989
68	Long clavicles (HP:0000890)	1.85134897
69	Aplasia/hypoplasia of the uterus (HP:0008684)	1.83216627
70	Symptomatic seizures (HP:0011145)	1.81516306
71	Amniotic constriction ring (HP:0009775)	1.81219128
72	Abnormality of placental membranes (HP:0011409)	1.81219128
73	Large for gestational age (HP:0001520)	1.81121520
74	Proximal amyotrophy (HP:0007126)	1.80875073
75	Breech presentation (HP:0001623)	1.80869294
76	Cerebral hypomyelination (HP:0006808)	1.77302930
77	Duplicated collecting system (HP:0000081)	1.77170267
78	Hypoglycemic seizures (HP:0002173)	1.76970621
79	Postnatal microcephaly (HP:0005484)	1.76794639
80	Type I transferrin isoform profile (HP:0003642)	1.76565887
81	Hepatocellular necrosis (HP:0001404)	1.76307731
82	Pancreatic fibrosis (HP:0100732)	1.74159710
83	Abnormal lung lobation (HP:0002101)	1.73948491
84	Optic disc pallor (HP:0000543)	1.72993602
85	Lethargy (HP:0001254)	1.72877136
86	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.72702486
87	Pancreatic cysts (HP:0001737)	1.69846323
88	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.69545377
89	Insidious onset (HP:0003587)	1.68846309
90	Termporal pattern (HP:0011008)	1.68846309
91	Abnormal finger flexion creases (HP:0006143)	1.66786953
92	Colon cancer (HP:0003003)	1.66638051
93	Spinal rigidity (HP:0003306)	1.65827428
94	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.65270391
95	Short 1st metacarpal (HP:0010034)	1.65270391
96	Increased muscle lipid content (HP:0009058)	1.65202132
97	Abnormality of methionine metabolism (HP:0010901)	1.63263707
98	Failure to thrive in infancy (HP:0001531)	1.63247755
99	Ketoacidosis (HP:0001993)	1.62797284
100	Glycosuria (HP:0003076)	1.61658667

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EIF2AK3	5.39287030
2	BCKDK	5.32310020
3	BUB1	3.29803314
4	SRPK1	2.85702139
5	NEK1	2.57691486
6	ERBB3	2.52338977
7	OBSCN	2.49853041
8	EIF2AK1	2.47547553
9	TRIM28	2.33395553
10	MAP3K4	2.30783324
11	BCR	2.15041554
12	TTK	2.02732970
13	MKNK2	1.93888168
14	TSSK6	1.80005729
15	MKNK1	1.77845829
16	PBK	1.74024602
17	MST4	1.67527636
18	STK24	1.62647192
19	MAP2K7	1.57558736
20	ACVR1B	1.55100156
21	BMPR1B	1.48277547
22	STK16	1.47478802
23	PLK3	1.43319659
24	CDC7	1.40403168
25	FRK	1.39855285
26	PDK2	1.34637194
27	EIF2AK2	1.33953992
28	RPS6KA4	1.33023896
29	STK38L	1.29544138
30	STK3	1.23900467
31	MAP3K12	1.20573796
32	PHKG1	1.19038112
33	PHKG2	1.19038112
34	PLK1	1.14690474
35	WNK3	1.08341810
36	PIK3CG	1.06348065
37	PLK4	1.05607111
38	TEC	1.04582469
39	ZAK	0.98635158
40	MAP3K6	0.97581498
41	MAP2K4	0.91509047
42	LIMK1	0.90354131
43	MAPK13	0.84711192
44	SCYL2	0.84665411
45	WEE1	0.82804064
46	MAPKAPK5	0.79661697
47	MAP4K2	0.78681846
48	NUAK1	0.77576600
49	BRSK2	0.73017145
50	VRK1	0.65473425
51	MUSK	0.65363825
52	NEK2	0.64580468
53	STK39	0.64095579
54	PASK	0.62946183
55	TNIK	0.62615417
56	MAP3K5	0.60512614
57	DYRK3	0.60417387
58	AURKA	0.60126650
59	AURKB	0.59887075
60	PLK2	0.57654032
61	CSNK1G2	0.57209308
62	CSNK1G1	0.57086695
63	TRPM7	0.56686618
64	PRKCE	0.50812852
65	CDK8	0.50772248
66	ATR	0.50586081
67	ATM	0.50495554
68	AKT2	0.48969877
69	CSNK1G3	0.48925358
70	CCNB1	0.47917418
71	CDK3	0.46592800
72	KSR1	0.44817381
73	CSNK1A1L	0.44773670
74	NME1	0.44270446
75	GRK7	0.44228855
76	BMPR2	0.43926794
77	CSNK2A1	0.42197187
78	TGFBR1	0.41892959
79	CSNK2A2	0.41804901
80	DYRK2	0.41580539
81	VRK2	0.41484777
82	TGFBR2	0.39746287
83	CLK1	0.39729646
84	NME2	0.36539585
85	TESK1	0.36228354
86	CAMK2D	0.36221261
87	LATS1	0.35048488
88	BRD4	0.35033858
89	GRK1	0.35027886
90	MINK1	0.34582056
91	CSNK1E	0.34274252
92	CHEK2	0.33335996
93	ERBB4	0.33285541
94	CHEK1	0.32907612
95	ABL2	0.32847547
96	CAMK2A	0.31534660
97	PNCK	0.30910142
98	IRAK2	0.30823621
99	PRKCG	0.30578916
100	TTN	0.30049336

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.28441408
2	Propanoate metabolism_Homo sapiens_hsa00640	3.17311147
3	Proteasome_Homo sapiens_hsa03050	3.10537806
4	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.57272041
5	Mismatch repair_Homo sapiens_hsa03430	2.45763459
6	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.33622687
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.22840665
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.22618795
9	Oxidative phosphorylation_Homo sapiens_hsa00190	2.20801481
10	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.16172609
11	Spliceosome_Homo sapiens_hsa03040	2.15412742
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.14838222
13	DNA replication_Homo sapiens_hsa03030	2.10057471
14	Parkinsons disease_Homo sapiens_hsa05012	2.07263521
15	RNA degradation_Homo sapiens_hsa03018	2.01245082
16	RNA transport_Homo sapiens_hsa03013	1.99869545
17	Nucleotide excision repair_Homo sapiens_hsa03420	1.98816339
18	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.98509430
19	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.92596829
20	Sulfur metabolism_Homo sapiens_hsa00920	1.90526817
21	Sulfur relay system_Homo sapiens_hsa04122	1.83800043
22	Pyruvate metabolism_Homo sapiens_hsa00620	1.83546041
23	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.82019702
24	Folate biosynthesis_Homo sapiens_hsa00790	1.81645760
25	Basal transcription factors_Homo sapiens_hsa03022	1.67314131
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.65373227
27	Non-homologous end-joining_Homo sapiens_hsa03450	1.65162212
28	RNA polymerase_Homo sapiens_hsa03020	1.57130024
29	Homologous recombination_Homo sapiens_hsa03440	1.55513110
30	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.49964905
31	Base excision repair_Homo sapiens_hsa03410	1.49150905
32	Selenocompound metabolism_Homo sapiens_hsa00450	1.44731207
33	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.38802565
34	Fatty acid elongation_Homo sapiens_hsa00062	1.38551849
35	Cell cycle_Homo sapiens_hsa04110	1.37887868
36	Fanconi anemia pathway_Homo sapiens_hsa03460	1.37256540
37	Huntingtons disease_Homo sapiens_hsa05016	1.36699067
38	Pyrimidine metabolism_Homo sapiens_hsa00240	1.33510776
39	One carbon pool by folate_Homo sapiens_hsa00670	1.29257682
40	Butanoate metabolism_Homo sapiens_hsa00650	1.28288139
41	Cardiac muscle contraction_Homo sapiens_hsa04260	1.25328173
42	Steroid biosynthesis_Homo sapiens_hsa00100	1.21636839
43	Carbon metabolism_Homo sapiens_hsa01200	1.20679563
44	Alzheimers disease_Homo sapiens_hsa05010	1.19859709
45	Purine metabolism_Homo sapiens_hsa00230	1.19581905
46	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.15041173
47	mRNA surveillance pathway_Homo sapiens_hsa03015	1.13252387
48	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.06335893
49	Oocyte meiosis_Homo sapiens_hsa04114	1.05590267
50	Ribosome_Homo sapiens_hsa03010	1.02784256
51	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.02388490
52	Glutathione metabolism_Homo sapiens_hsa00480	0.97062419
53	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.91221950
54	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.90156021
55	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.87234656
56	Peroxisome_Homo sapiens_hsa04146	0.83732444
57	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.79684927
58	p53 signaling pathway_Homo sapiens_hsa04115	0.79150531
59	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.77086814
60	Metabolic pathways_Homo sapiens_hsa01100	0.76340368
61	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.73910409
62	Renin-angiotensin system_Homo sapiens_hsa04614	0.72505905
63	Circadian rhythm_Homo sapiens_hsa04710	0.71574536
64	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.69894591
65	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.68655792
66	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.67312012
67	Tryptophan metabolism_Homo sapiens_hsa00380	0.64320276
68	Fatty acid metabolism_Homo sapiens_hsa01212	0.64012595
69	Arginine and proline metabolism_Homo sapiens_hsa00330	0.61678546
70	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.59306217
71	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.58368783
72	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.57700554
73	Regulation of autophagy_Homo sapiens_hsa04140	0.54859068
74	Fatty acid degradation_Homo sapiens_hsa00071	0.53886130
75	Phototransduction_Homo sapiens_hsa04744	0.52602918
76	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.51551601
77	beta-Alanine metabolism_Homo sapiens_hsa00410	0.51371542
78	Pentose phosphate pathway_Homo sapiens_hsa00030	0.49602786
79	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.49428279
80	Collecting duct acid secretion_Homo sapiens_hsa04966	0.48037552
81	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.43597937
82	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.43424471
83	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.43125476
84	Galactose metabolism_Homo sapiens_hsa00052	0.39235147
85	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.38374816
86	Vibrio cholerae infection_Homo sapiens_hsa05110	0.35166584
87	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.33538934
88	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.33532391
89	Legionellosis_Homo sapiens_hsa05134	0.26233504
90	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.25092682
91	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.24974718
92	Serotonergic synapse_Homo sapiens_hsa04726	0.18311323
93	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.16371866
94	Hippo signaling pathway_Homo sapiens_hsa04390	0.15459422
95	Retinol metabolism_Homo sapiens_hsa00830	0.14925437
96	Glucagon signaling pathway_Homo sapiens_hsa04922	0.13628642
97	Mineral absorption_Homo sapiens_hsa04978	0.11391627
98	Nitrogen metabolism_Homo sapiens_hsa00910	0.10447472
99	GABAergic synapse_Homo sapiens_hsa04727	0.07850299
100	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.06718724

RWDD4

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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