ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of sarcomere organization (GO:0060297)	7.22453004
2	negative regulation of translation, ncRNA-mediated (GO:0040033)	6.83170856
3	regulation of translation, ncRNA-mediated (GO:0045974)	6.83170856
4	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	6.83170856
5	attachment of spindle microtubules to kinetochore (GO:0008608)	5.96451537
6	negative regulation of nitric-oxide synthase activity (GO:0051001)	5.64281525
7	plasma membrane repair (GO:0001778)	5.23025474
8	nuclear pore organization (GO:0006999)	5.09433556
9	production of molecular mediator involved in inflammatory response (GO:0002532)	5.08922988
10	regulation of skeletal muscle contraction (GO:0014819)	5.06342557
11	heart contraction (GO:0060047)	4.90274768
12	heart process (GO:0003015)	4.90274768
13	negative regulation of cardiac muscle tissue growth (GO:0055022)	4.76138588
14	negative regulation of heart growth (GO:0061117)	4.76138588
15	ribonucleoprotein complex disassembly (GO:0032988)	4.74961898
16	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	4.70370957
17	negative regulation of protein localization to cell surface (GO:2000009)	4.67257449
18	skeletal muscle tissue regeneration (GO:0043403)	4.54099198
19	organelle disassembly (GO:1903008)	4.27935935
20	negative regulation of cardiac muscle tissue development (GO:0055026)	4.10463409
21	mitotic metaphase plate congression (GO:0007080)	4.08078836
22	membrane raft organization (GO:0031579)	4.07494815
23	pericardium development (GO:0060039)	4.04340387
24	intestinal epithelial cell development (GO:0060576)	4.01943684
25	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.98884043
26	positive regulation of vesicle fusion (GO:0031340)	3.69472424
27	intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)	3.65700721
28	membrane assembly (GO:0071709)	3.64744144
29	microtubule anchoring (GO:0034453)	3.57270151
30	protein K11-linked deubiquitination (GO:0035871)	3.56615316
31	protein neddylation (GO:0045116)	3.55982055
32	peptidyl-histidine modification (GO:0018202)	3.47879119
33	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	3.45829424
34	muscle cell cellular homeostasis (GO:0046716)	3.41533030
35	membrane budding (GO:0006900)	3.40893223
36	positive regulation of microtubule polymerization (GO:0031116)	3.39376436
37	metaphase plate congression (GO:0051310)	3.38462918
38	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.37242952
39	keratinocyte development (GO:0003334)	3.37016618
40	regulation of transforming growth factor beta2 production (GO:0032909)	3.34821212
41	regulation of hippo signaling (GO:0035330)	3.29954416
42	cardiac myofibril assembly (GO:0055003)	3.29202435
43	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.28560643
44	response to inactivity (GO:0014854)	3.27838337
45	negative regulation of muscle hypertrophy (GO:0014741)	3.19603334
46	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	3.13899442
47	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.11496949
48	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.07865493
49	regulation of action potential (GO:0098900)	3.07569716
50	negative regulation of monooxygenase activity (GO:0032769)	3.07204421
51	skeletal muscle fiber development (GO:0048741)	3.07143762
52	cardiac muscle cell development (GO:0055013)	3.06800546
53	protein peptidyl-prolyl isomerization (GO:0000413)	3.06538843
54	respiratory chain complex IV assembly (GO:0008535)	3.05294657
55	negative regulation of organ growth (GO:0046621)	3.04710931
56	response to muscle activity (GO:0014850)	3.03600930
57	histone H3-K4 trimethylation (GO:0080182)	3.02826780
58	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.02384360
59	microtubule cytoskeleton organization involved in mitosis (GO:1902850)	3.00800576
60	myotube cell development (GO:0014904)	3.00717919
61	myoblast migration (GO:0051451)	2.95147779
62	cullin deneddylation (GO:0010388)	2.93407225
63	cytoplasmic microtubule organization (GO:0031122)	2.92647778
64	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	2.89108751
65	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	2.89108751
66	nucleus localization (GO:0051647)	2.83786340
67	regulation of p38MAPK cascade (GO:1900744)	2.83220313
68	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.80635496
69	cardiac cell development (GO:0055006)	2.80218681
70	DNA catabolic process, exonucleolytic (GO:0000738)	2.78530684
71	negative regulation of organelle assembly (GO:1902116)	2.76115415
72	methionine biosynthetic process (GO:0009086)	2.75964079
73	myofibril assembly (GO:0030239)	2.74413532
74	myoblast fusion (GO:0007520)	2.74374483
75	embryonic foregut morphogenesis (GO:0048617)	2.73920515
76	negative regulation of potassium ion transmembrane transport (GO:1901380)	2.73411905
77	lens fiber cell differentiation (GO:0070306)	2.72789491
78	regulation of metalloenzyme activity (GO:0048552)	2.71665854
79	single strand break repair (GO:0000012)	2.71371759
80	positive regulation of extracellular matrix organization (GO:1903055)	2.67931520
81	striated muscle atrophy (GO:0014891)	2.67460739
82	imidazole-containing compound metabolic process (GO:0052803)	2.67232617
83	methionine metabolic process (GO:0006555)	2.66689787
84	regulation of cardiac muscle cell differentiation (GO:2000725)	2.65024071
85	DNA demethylation (GO:0080111)	2.64441721
86	nerve growth factor signaling pathway (GO:0038180)	2.63639839
87	protein heterotetramerization (GO:0051290)	2.62933232
88	pyrimidine dimer repair (GO:0006290)	2.62141711
89	SMAD protein complex assembly (GO:0007183)	2.58927766
90	muscle atrophy (GO:0014889)	2.54497100
91	DNA dealkylation (GO:0035510)	2.54200571
92	protein deneddylation (GO:0000338)	2.53224790
93	cellular biogenic amine catabolic process (GO:0042402)	2.52155957
94	amine catabolic process (GO:0009310)	2.52155957
95	negative regulation of mast cell activation (GO:0033004)	2.51613101
96	desmosome organization (GO:0002934)	2.50439846
97	regulation of DNA endoreduplication (GO:0032875)	2.48956634
98	peptidyl-proline modification (GO:0018208)	2.46587468
99	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	2.45178889
100	regulation of muscle adaptation (GO:0043502)	2.44701308

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	4.45449350
2	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	3.30916678
3	POU3F2_20337985_ChIP-ChIP_501MEL_Human	3.19862149
4	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.66831297
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.65670514
6	TAF15_26573619_Chip-Seq_HEK293_Human	2.57142396
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.57003563
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.42589308
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.41210209
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.41104672
11	FUS_26573619_Chip-Seq_HEK293_Human	2.40282431
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.37307920
13	ELK1_19687146_ChIP-ChIP_HELA_Human	2.28308342
14	EWS_26573619_Chip-Seq_HEK293_Human	2.23983813
15	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.22775535
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.21379620
17	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.18342426
18	P300_19829295_ChIP-Seq_ESCs_Human	2.15319347
19	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	2.10635679
20	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.01121550
21	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.95864308
22	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.94434460
23	ER_23166858_ChIP-Seq_MCF-7_Human	1.85787154
24	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.84813180
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.74232489
26	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73259334
27	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.69611140
28	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.68141209
29	CJUN_26792858_Chip-Seq_BT549_Human	1.64263900
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.57796024
31	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.53562346
32	BRD4_25478319_ChIP-Seq_HGPS_Human	1.53224374
33	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.49734214
34	CBP_20019798_ChIP-Seq_JUKART_Human	1.49169784
35	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.49169784
36	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.48866142
37	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.46870435
38	STAT3_23295773_ChIP-Seq_U87_Human	1.45721210
39	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.45539297
40	CDX2_22108803_ChIP-Seq_LS180_Human	1.44144537
41	SOX2_19829295_ChIP-Seq_ESCs_Human	1.42421316
42	NANOG_19829295_ChIP-Seq_ESCs_Human	1.42421316
43	BCAT_22108803_ChIP-Seq_LS180_Human	1.42360022
44	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.41906758
45	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.41764003
46	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.40032492
47	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.40014600
48	TP53_18474530_ChIP-ChIP_U2OS_Human	1.39286658
49	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.38065874
50	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.37739245
51	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.36912362
52	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.36135402
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.35866557
54	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.35549695
55	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.34435096
56	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.32704872
57	TCF4_22108803_ChIP-Seq_LS180_Human	1.32319024
58	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.29760836
59	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.29760836
60	P53_22387025_ChIP-Seq_ESCs_Mouse	1.28698977
61	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.27292322
62	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.27263377
63	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.26653997
64	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.25954432
65	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.25448453
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.24932158
67	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.24369912
68	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.24315860
69	TCF4_23295773_ChIP-Seq_U87_Human	1.24072798
70	AR_25329375_ChIP-Seq_VCAP_Human	1.23097762
71	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.22499421
72	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.20127840
73	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.18915668
74	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.17857990
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.16943280
76	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.16815213
77	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.16814865
78	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.15124061
79	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.15000401
80	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.15000401
81	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.14177641
82	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.11775647
83	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.11590017
84	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10651842
85	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.09877941
86	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.08138172
87	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.07999028
88	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.07684820
89	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.07250141
90	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.06344648
91	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.06069345
92	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.05945348
93	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.05496185
94	P300_18555785_Chip-Seq_ESCs_Mouse	1.05057305
95	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.03984921
96	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.00237196
97	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.00203644
98	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.99536571
99	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.99301872
100	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.99083264

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003950_abnormal_plasma_membrane	8.05576396
2	MP0000749_muscle_degeneration	4.28436728
3	MP0003011_delayed_dark_adaptation	2.97679879
4	MP0004084_abnormal_cardiac_muscle	2.88389396
5	MP0003828_pulmonary_edema	2.79130278
6	MP0008789_abnormal_olfactory_epithelium	2.59002226
7	MP0000751_myopathy	2.52120208
8	MP0009780_abnormal_chondrocyte_physiolo	2.44490931
9	MP0004145_abnormal_muscle_electrophysio	2.37780590
10	MP0004883_abnormal_blood_vessel	2.35716955
11	MP0009697_abnormal_copulation	2.35061014
12	MP0000569_abnormal_digit_pigmentation	2.05798115
13	MP0005187_abnormal_penis_morphology	2.04106747
14	MP0001853_heart_inflammation	2.02293601
15	MP0001485_abnormal_pinna_reflex	2.00572298
16	MP0003136_yellow_coat_color	1.98575907
17	MP0002102_abnormal_ear_morphology	1.87984077
18	MP0003890_abnormal_embryonic-extraembry	1.86528067
19	MP0003221_abnormal_cardiomyocyte_apopto	1.85736000
20	MP0002837_dystrophic_cardiac_calcinosis	1.81247493
21	MP0002163_abnormal_gland_morphology	1.71617155
22	MP0004036_abnormal_muscle_relaxation	1.69722765
23	MP0002938_white_spotting	1.61396804
24	MP0006276_abnormal_autonomic_nervous	1.55810778
25	MP0004215_abnormal_myocardial_fiber	1.55180800
26	MP0005253_abnormal_eye_physiology	1.55024700
27	MP0003045_fibrosis	1.54984895
28	MP0005620_abnormal_muscle_contractility	1.54519233
29	MP0004782_abnormal_surfactant_physiolog	1.53463621
30	MP0010030_abnormal_orbit_morphology	1.51025918
31	MP0003646_muscle_fatigue	1.46549842
32	MP0003941_abnormal_skin_development	1.46458824
33	MP0004272_abnormal_basement_membrane	1.41664100
34	MP0005499_abnormal_olfactory_system	1.41322418
35	MP0005394_taste/olfaction_phenotype	1.41322418
36	MP0002972_abnormal_cardiac_muscle	1.39986964
37	MP0001299_abnormal_eye_distance/	1.37988996
38	MP0004087_abnormal_muscle_fiber	1.37333101
39	MP0003718_maternal_effect	1.35968883
40	MP0000372_irregular_coat_pigmentation	1.32436701
41	MP0004270_analgesia	1.28394465
42	MP0000427_abnormal_hair_cycle	1.27943719
43	MP0003567_abnormal_fetal_cardiomyocyte	1.27183014
44	MP0006054_spinal_hemorrhage	1.26954340
45	MP0005164_abnormal_response_to	1.21716419
46	MP0003186_abnormal_redox_activity	1.21225276
47	MP0002106_abnormal_muscle_physiology	1.20659874
48	MP0005670_abnormal_white_adipose	1.14260618
49	MP0002233_abnormal_nose_morphology	1.13590642
50	MP0003195_calcinosis	1.12949385
51	MP0002269_muscular_atrophy	1.07090868
52	MP0000759_abnormal_skeletal_muscle	1.06653534
53	MP0002090_abnormal_vision	1.04532099
54	MP0005395_other_phenotype	1.04031945
55	MP0003252_abnormal_bile_duct	1.02740509
56	MP0000750_abnormal_muscle_regeneration	1.00002485
57	MP0001293_anophthalmia	0.99632814
58	MP0005369_muscle_phenotype	0.99566033
59	MP0000230_abnormal_systemic_arterial	0.98261411
60	MP0008058_abnormal_DNA_repair	0.97922948
61	MP0000049_abnormal_middle_ear	0.96937789
62	MP0002168_other_aberrant_phenotype	0.94990680
63	MP0008775_abnormal_heart_ventricle	0.94963027
64	MP0002751_abnormal_autonomic_nervous	0.92189622
65	MP0002009_preneoplasia	0.90064769
66	MP0005330_cardiomyopathy	0.87856268
67	MP0003937_abnormal_limbs/digits/tail_de	0.86458741
68	MP0006072_abnormal_retinal_apoptosis	0.85617953
69	MP0001849_ear_inflammation	0.84901509
70	MP0002332_abnormal_exercise_endurance	0.84736311
71	MP0000747_muscle_weakness	0.84377096
72	MP0005376_homeostasis/metabolism_phenot	0.84017693
73	MP0002133_abnormal_respiratory_system	0.83957199
74	MP0005388_respiratory_system_phenotype	0.83957199
75	MP0002095_abnormal_skin_pigmentation	0.82828532
76	MP0004147_increased_porphyrin_level	0.82105493
77	MP0008872_abnormal_physiological_respon	0.80545043
78	MP0010630_abnormal_cardiac_muscle	0.80286532
79	MP0001529_abnormal_vocalization	0.79325220
80	MP0003787_abnormal_imprinting	0.79038269
81	MP0003806_abnormal_nucleotide_metabolis	0.78915763
82	MP0001177_atelectasis	0.78706959
83	MP0004142_abnormal_muscle_tone	0.77621078
84	MP0003121_genomic_imprinting	0.76567476
85	MP0004043_abnormal_pH_regulation	0.75941559
86	MP0008057_abnormal_DNA_replication	0.75017424
87	MP0010386_abnormal_urinary_bladder	0.74048406
88	MP0005075_abnormal_melanosome_morpholog	0.73639846
89	MP0005551_abnormal_eye_electrophysiolog	0.72243413
90	MP0005391_vision/eye_phenotype	0.68681384
91	MP0000647_abnormal_sebaceous_gland	0.67693501
92	MP0001544_abnormal_cardiovascular_syste	0.67524195
93	MP0005385_cardiovascular_system_phenoty	0.67524195
94	MP0000371_diluted_coat_color	0.67492861
95	MP0005266_abnormal_metabolism	0.67029076
96	MP0003385_abnormal_body_wall	0.66613484
97	MP0003191_abnormal_cellular_cholesterol	0.66587649
98	MP0008877_abnormal_DNA_methylation	0.65467309
99	MP0005332_abnormal_amino_acid	0.63285383
100	MP0002282_abnormal_trachea_morphology	0.63036994

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Calf muscle hypertrophy (HP:0008981)	6.91515277
2	Muscle hypertrophy of the lower extremities (HP:0008968)	6.14306487
3	Exercise-induced muscle cramps (HP:0003710)	6.00805320
4	Type 2 muscle fiber atrophy (HP:0003554)	4.80055416
5	Renal cortical cysts (HP:0000803)	4.16802187
6	Exercise-induced myalgia (HP:0003738)	4.07784795
7	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.98405079
8	Abnormality of alanine metabolism (HP:0010916)	3.98405079
9	Hyperalaninemia (HP:0003348)	3.98405079
10	Subaortic stenosis (HP:0001682)	3.93070451
11	Abnormality of the left ventricular outflow tract (HP:0011103)	3.93070451
12	Asymmetric septal hypertrophy (HP:0001670)	3.85763671
13	Muscle fiber atrophy (HP:0100295)	3.83847271
14	Abnormality of the calf musculature (HP:0001430)	3.52739529
15	Popliteal pterygium (HP:0009756)	3.52480095
16	Abnormality of the renal cortex (HP:0011035)	3.23288231
17	Abnormality of the neuromuscular junction (HP:0003398)	3.05631071
18	Fatigable weakness (HP:0003473)	3.05631071
19	Nemaline bodies (HP:0003798)	3.01784940
20	Decreased muscle mass (HP:0003199)	2.94721630
21	Aortic aneurysm (HP:0004942)	2.91273203
22	Vascular tortuosity (HP:0004948)	2.87765495
23	Myotonia (HP:0002486)	2.83119876
24	Gowers sign (HP:0003391)	2.77658123
25	Spondylolisthesis (HP:0003302)	2.67777342
26	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.57551700
27	Abnormal gallbladder physiology (HP:0012438)	2.55283552
28	Cholecystitis (HP:0001082)	2.55283552
29	Arterial tortuosity (HP:0005116)	2.51391551
30	Dry hair (HP:0011359)	2.47577487
31	Sudden death (HP:0001699)	2.46393932
32	Abnormality of placental membranes (HP:0011409)	2.46318414
33	Amniotic constriction ring (HP:0009775)	2.46318414
34	Muscle fiber inclusion bodies (HP:0100299)	2.43979037
35	Posterior subcapsular cataract (HP:0007787)	2.36728781
36	Hypoplastic iliac wings (HP:0002866)	2.34342268
37	Fair hair (HP:0002286)	2.33274991
38	Stenosis of the external auditory canal (HP:0000402)	2.31946790
39	Distal arthrogryposis (HP:0005684)	2.29596249
40	Left ventricular hypertrophy (HP:0001712)	2.29127861
41	Weak cry (HP:0001612)	2.21388967
42	Dyschromatopsia (HP:0007641)	2.20126230
43	Muscle stiffness (HP:0003552)	2.19907020
44	Increased corneal curvature (HP:0100692)	2.18674320
45	Keratoconus (HP:0000563)	2.18674320
46	Volvulus (HP:0002580)	2.18501271
47	Tubular atrophy (HP:0000092)	2.17923965
48	Tubulointerstitial nephritis (HP:0001970)	2.11628653
49	Absent eyebrow (HP:0002223)	2.10759331
50	Sensory axonal neuropathy (HP:0003390)	2.10640428
51	Neck muscle weakness (HP:0000467)	2.10258544
52	Depressed nasal tip (HP:0000437)	2.09708186
53	Abnormality of serum amino acid levels (HP:0003112)	2.09535373
54	IgM deficiency (HP:0002850)	2.08282432
55	Anhidrosis (HP:0000970)	2.08216373
56	Medial flaring of the eyebrow (HP:0010747)	2.08026043
57	Abnormality of midbrain morphology (HP:0002418)	2.05319845
58	Molar tooth sign on MRI (HP:0002419)	2.05319845
59	Abnormality of the axillary hair (HP:0100134)	2.03873202
60	Abnormality of secondary sexual hair (HP:0009888)	2.03873202
61	Abnormality of the renal medulla (HP:0100957)	2.03773313
62	Increased serum pyruvate (HP:0003542)	2.02340534
63	Nonprogressive disorder (HP:0003680)	2.01099855
64	Malignant hyperthermia (HP:0002047)	1.98387368
65	Aplastic anemia (HP:0001915)	1.94673674
66	Gaze-evoked nystagmus (HP:0000640)	1.89831695
67	Hypoplasia of the thymus (HP:0000778)	1.89647563
68	Absent hair (HP:0002298)	1.88482284
69	Poor suck (HP:0002033)	1.85875198
70	True hermaphroditism (HP:0010459)	1.85143836
71	Pancreatic cysts (HP:0001737)	1.83162396
72	Abnormal rod and cone electroretinograms (HP:0008323)	1.82747334
73	Concave nail (HP:0001598)	1.82568207
74	Abnormality of DNA repair (HP:0003254)	1.81205044
75	Bifid tongue (HP:0010297)	1.81116606
76	Barrel-shaped chest (HP:0001552)	1.80964016
77	Nephronophthisis (HP:0000090)	1.77995043
78	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.75089825
79	Lipoatrophy (HP:0100578)	1.74394409
80	White forelock (HP:0002211)	1.71687138
81	Pancreatic fibrosis (HP:0100732)	1.70784754
82	Patchy hypopigmentation of hair (HP:0011365)	1.70667352
83	Abnormal biliary tract morphology (HP:0012440)	1.70632241
84	Hypoalbuminemia (HP:0003073)	1.69656913
85	Abnormal albumin level (HP:0012116)	1.69656913
86	Chronic hepatic failure (HP:0100626)	1.68919863
87	Generalized hypopigmentation of hair (HP:0011358)	1.68443940
88	Tubulointerstitial abnormality (HP:0001969)	1.68012841
89	Palpitations (HP:0001962)	1.67389702
90	Rimmed vacuoles (HP:0003805)	1.67191287
91	Small hand (HP:0200055)	1.66833021
92	Hypoplasia of the fovea (HP:0007750)	1.66596503
93	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.66596503
94	Abnormality of glycolysis (HP:0004366)	1.65289205
95	Hepatocellular necrosis (HP:0001404)	1.62077449
96	Hepatic necrosis (HP:0002605)	1.62070935
97	Genetic anticipation (HP:0003743)	1.58984483
98	Hyporeflexia of lower limbs (HP:0002600)	1.58284889
99	Palpebral edema (HP:0100540)	1.56921637
100	Reduced subcutaneous adipose tissue (HP:0003758)	1.54027570

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NEK1	5.36499267
2	MUSK	4.69166437
3	FRK	3.14158156
4	MKNK2	3.01560228
5	BMPR1B	2.76514359
6	CDK8	2.46809334
7	BCR	2.35640649
8	MAPKAPK5	2.25291398
9	ACVR1B	2.22706769
10	MKNK1	2.14560300
11	VRK2	2.12590698
12	OBSCN	1.90027764
13	TNIK	1.84307482
14	STK24	1.77144470
15	STK38L	1.72618519
16	PIK3CG	1.71374456
17	MST4	1.68493553
18	TGFBR1	1.66313813
19	ERBB3	1.65592243
20	CCNB1	1.61471426
21	TRIM28	1.49318346
22	BRSK2	1.46879397
23	MAP3K12	1.45854832
24	AKT3	1.44300674
25	WNK3	1.44094260
26	MELK	1.43530150
27	MAP3K4	1.30197710
28	EIF2AK3	1.29698939
29	PRKCE	1.25483940
30	STK16	1.19292910
31	VRK1	1.17052660
32	CSNK1A1L	1.15866660
33	TGFBR2	1.14474588
34	CSNK1G1	1.12113995
35	FLT3	1.11456606
36	FGFR1	1.10111602
37	NLK	1.06440340
38	STK39	1.05515270
39	NUAK1	1.03411496
40	MYLK	1.02921101
41	OXSR1	1.02907342
42	TEC	1.02379706
43	PAK3	0.98850768
44	CSNK1G2	0.96599441
45	PKN2	0.94633082
46	MAP4K2	0.93762843
47	TIE1	0.92084382
48	CSNK1G3	0.91283743
49	SRPK1	0.90870876
50	IRAK3	0.90725518
51	TRPM7	0.88777939
52	PTK2B	0.87333900
53	DMPK	0.86678719
54	DYRK3	0.85973432
55	CDK9	0.83963782
56	MAP3K7	0.82619005
57	BUB1	0.80273020
58	GRK1	0.78789895
59	FER	0.76916361
60	STK3	0.76481767
61	MAPK13	0.75736872
62	PLK2	0.75262215
63	PAK6	0.70636481
64	PTK2	0.66679314
65	PLK3	0.65864644
66	PRKACB	0.63563258
67	WEE1	0.63500764
68	PDK2	0.63439778
69	TSSK6	0.63365780
70	PRKCG	0.61953938
71	TAF1	0.57208820
72	DDR2	0.54472437
73	EGFR	0.46896113
74	PIK3CA	0.46622131
75	CSNK1D	0.45265029
76	LIMK1	0.44275820
77	ABL1	0.43318690
78	PKN1	0.43205419
79	MOS	0.42548533
80	CAMK2A	0.40898832
81	ERBB4	0.40739186
82	CSNK2A1	0.38805823
83	CDK4	0.37702548
84	ILK	0.37336197
85	RPS6KA4	0.35942085
86	EIF2AK2	0.35761560
87	PRKD1	0.32776042
88	SGK2	0.32693424
89	CAMK2D	0.32081642
90	ZAK	0.30645479
91	IGF1R	0.27589751
92	ADRBK1	0.27169707
93	ADRBK2	0.26917794
94	MAP2K1	0.26118449
95	ROCK1	0.25584204
96	ABL2	0.25375636
97	FGFR2	0.24607409
98	CSNK2A2	0.22767510
99	INSRR	0.22654972
100	CASK	0.20979953

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	5.22845975
2	Proteasome_Homo sapiens_hsa03050	3.51304945
3	Sulfur metabolism_Homo sapiens_hsa00920	3.14672648
4	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	2.50486132
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.50273907
6	One carbon pool by folate_Homo sapiens_hsa00670	2.32106179
7	Propanoate metabolism_Homo sapiens_hsa00640	2.25719287
8	RNA degradation_Homo sapiens_hsa03018	2.21754895
9	Basal transcription factors_Homo sapiens_hsa03022	2.04746758
10	RNA polymerase_Homo sapiens_hsa03020	1.96770596
11	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.93284972
12	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.85703777
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.75393935
14	RNA transport_Homo sapiens_hsa03013	1.70555131
15	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.70147943
16	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59922638
17	Histidine metabolism_Homo sapiens_hsa00340	1.59235785
18	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.56464693
19	Parkinsons disease_Homo sapiens_hsa05012	1.52034542
20	Selenocompound metabolism_Homo sapiens_hsa00450	1.50614990
21	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.49442888
22	Caffeine metabolism_Homo sapiens_hsa00232	1.46254642
23	Steroid biosynthesis_Homo sapiens_hsa00100	1.45382354
24	beta-Alanine metabolism_Homo sapiens_hsa00410	1.36735656
25	Pyruvate metabolism_Homo sapiens_hsa00620	1.35267914
26	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.26938836
27	Nitrogen metabolism_Homo sapiens_hsa00910	1.21722706
28	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.21332503
29	Arginine and proline metabolism_Homo sapiens_hsa00330	1.19965912
30	Ether lipid metabolism_Homo sapiens_hsa00565	1.19418418
31	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.15867020
32	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.15195294
33	Alzheimers disease_Homo sapiens_hsa05010	1.13541147
34	Homologous recombination_Homo sapiens_hsa03440	1.11718706
35	Adherens junction_Homo sapiens_hsa04520	1.09048653
36	Huntingtons disease_Homo sapiens_hsa05016	1.08431237
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.08009203
38	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.07639333
39	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.06298873
40	Circadian rhythm_Homo sapiens_hsa04710	1.06214952
41	Peroxisome_Homo sapiens_hsa04146	1.05545334
42	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.04116634
43	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.03537576
44	ABC transporters_Homo sapiens_hsa02010	1.03103649
45	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.95033256
46	Cardiac muscle contraction_Homo sapiens_hsa04260	0.92755913
47	Hippo signaling pathway_Homo sapiens_hsa04390	0.89825552
48	Regulation of autophagy_Homo sapiens_hsa04140	0.89023531
49	Lysine degradation_Homo sapiens_hsa00310	0.88588704
50	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.88248535
51	Glycerolipid metabolism_Homo sapiens_hsa00561	0.87911709
52	Glutathione metabolism_Homo sapiens_hsa00480	0.87909425
53	Oocyte meiosis_Homo sapiens_hsa04114	0.87471598
54	p53 signaling pathway_Homo sapiens_hsa04115	0.86769042
55	Purine metabolism_Homo sapiens_hsa00230	0.85742417
56	Tight junction_Homo sapiens_hsa04530	0.84737806
57	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.82193380
58	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.80071835
59	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.77423222
60	Linoleic acid metabolism_Homo sapiens_hsa00591	0.76343953
61	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.75464242
62	Retinol metabolism_Homo sapiens_hsa00830	0.74731081
63	Olfactory transduction_Homo sapiens_hsa04740	0.74437257
64	Chemical carcinogenesis_Homo sapiens_hsa05204	0.73991043
65	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.72772790
66	Metabolic pathways_Homo sapiens_hsa01100	0.66681959
67	Nucleotide excision repair_Homo sapiens_hsa03420	0.65875457
68	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.65278525
69	Butanoate metabolism_Homo sapiens_hsa00650	0.64913256
70	Wnt signaling pathway_Homo sapiens_hsa04310	0.62656380
71	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.62410606
72	Pyrimidine metabolism_Homo sapiens_hsa00240	0.61714164
73	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.61677604
74	Phototransduction_Homo sapiens_hsa04744	0.60551454
75	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.56033890
76	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.53178077
77	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.50964586
78	Legionellosis_Homo sapiens_hsa05134	0.50562367
79	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.49851348
80	Serotonergic synapse_Homo sapiens_hsa04726	0.48792061
81	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.48692565
82	Cell cycle_Homo sapiens_hsa04110	0.47393789
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.46249124
84	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.45772499
85	Spliceosome_Homo sapiens_hsa03040	0.45123241
86	Calcium signaling pathway_Homo sapiens_hsa04020	0.42193793
87	Fatty acid degradation_Homo sapiens_hsa00071	0.40449680
88	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.39122068
89	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.35646944
90	Renin secretion_Homo sapiens_hsa04924	0.34181799
91	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.34162410
92	GABAergic synapse_Homo sapiens_hsa04727	0.34142852
93	Colorectal cancer_Homo sapiens_hsa05210	0.32868380
94	Fat digestion and absorption_Homo sapiens_hsa04975	0.32656602
95	Non-homologous end-joining_Homo sapiens_hsa03450	0.32238847
96	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.31263697
97	Mismatch repair_Homo sapiens_hsa03430	0.30462198
98	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.30421173
99	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.30131878
100	Dopaminergic synapse_Homo sapiens_hsa04728	0.29874017

VPS26BP1

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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