ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of sarcomere organization (GO:0060297)	7.43995294
2	ribonucleoprotein complex disassembly (GO:0032988)	7.01239925
3	piRNA metabolic process (GO:0034587)	6.94102650
4	negative regulation of protein localization to cell surface (GO:2000009)	6.06801559
5	glycine transport (GO:0015816)	5.93985162
6	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	5.93960813
7	regulation of skeletal muscle contraction (GO:0014819)	5.62102095
8	organelle disassembly (GO:1903008)	5.35236149
9	negative regulation of potassium ion transmembrane transport (GO:1901380)	5.20595487
10	negative regulation of nitric-oxide synthase activity (GO:0051001)	5.15928762
11	plasma membrane repair (GO:0001778)	5.12922830
12	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	4.90203592
13	positive regulation of microtubule polymerization (GO:0031116)	4.85276630
14	negative regulation of organelle assembly (GO:1902116)	4.78101948
15	dopaminergic neuron differentiation (GO:0071542)	4.78015024
16	DNA methylation involved in gamete generation (GO:0043046)	4.77765808
17	embryonic body morphogenesis (GO:0010172)	4.52601513
18	neuron fate determination (GO:0048664)	4.51743465
19	regulation of action potential (GO:0098900)	4.34911514
20	negative regulation of muscle hypertrophy (GO:0014741)	4.34041595
21	gamma-aminobutyric acid transport (GO:0015812)	4.22124801
22	spermatid nucleus differentiation (GO:0007289)	3.95411307
23	cytoplasmic microtubule organization (GO:0031122)	3.90473414
24	positive regulation of microtubule polymerization or depolymerization (GO:0031112)	3.88636907
25	myotube differentiation (GO:0014902)	3.88622846
26	GTP biosynthetic process (GO:0006183)	3.88016233
27	negative regulation of heart growth (GO:0061117)	3.85925783
28	negative regulation of cardiac muscle tissue growth (GO:0055022)	3.85925783
29	somite development (GO:0061053)	3.83845573
30	positive regulation of gastrulation (GO:2000543)	3.69902118
31	body morphogenesis (GO:0010171)	3.68533411
32	neurofilament cytoskeleton organization (GO:0060052)	3.62311842
33	negative regulation of cardiac muscle hypertrophy (GO:0010614)	3.43341721
34	somite rostral/caudal axis specification (GO:0032525)	3.39971399
35	negative regulation of cardiac muscle tissue development (GO:0055026)	3.38914633
36	postreplication repair (GO:0006301)	3.35095035
37	limb bud formation (GO:0060174)	3.30022696
38	UTP biosynthetic process (GO:0006228)	3.24224795
39	resolution of meiotic recombination intermediates (GO:0000712)	3.23250415
40	midbrain development (GO:0030901)	3.16468698
41	alkaloid metabolic process (GO:0009820)	3.15818461
42	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	3.15597794
43	NADH dehydrogenase complex assembly (GO:0010257)	3.14499745
44	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.14499745
45	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.14499745
46	translational termination (GO:0006415)	3.12798536
47	thalamus development (GO:0021794)	3.12784996
48	regulation of p38MAPK cascade (GO:1900744)	3.08607799
49	embryonic foregut morphogenesis (GO:0048617)	3.05675681
50	viral transcription (GO:0019083)	3.03807079
51	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.03708639
52	lung-associated mesenchyme development (GO:0060484)	3.02750217
53	UTP metabolic process (GO:0046051)	3.02068535
54	platelet dense granule organization (GO:0060155)	2.97261550
55	heart trabecula formation (GO:0060347)	2.96900399
56	negative regulation of smooth muscle cell differentiation (GO:0051151)	2.96764683
57	heart valve formation (GO:0003188)	2.96092750
58	L-amino acid import (GO:0043092)	2.95498248
59	protein localization to cilium (GO:0061512)	2.92678827
60	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	2.92433737
61	negative regulation of potassium ion transport (GO:0043267)	2.91607650
62	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.90267220
63	heart process (GO:0003015)	2.90160004
64	heart contraction (GO:0060047)	2.90160004
65	ATP synthesis coupled proton transport (GO:0015986)	2.89811870
66	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.89811870
67	intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)	2.87998929
68	protein polyglutamylation (GO:0018095)	2.84380105
69	regulation of microtubule polymerization (GO:0031113)	2.84284355
70	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	2.84235923
71	intermediate filament organization (GO:0045109)	2.83191066
72	regulation of membrane repolarization (GO:0060306)	2.83121322
73	DNA integration (GO:0015074)	2.82837530
74	negative regulation of monooxygenase activity (GO:0032769)	2.81228241
75	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.78177361
76	spinal cord motor neuron differentiation (GO:0021522)	2.78021463
77	L-fucose catabolic process (GO:0042355)	2.76755326
78	fucose catabolic process (GO:0019317)	2.76755326
79	L-fucose metabolic process (GO:0042354)	2.76755326
80	translational elongation (GO:0006414)	2.75272470
81	regulation of centriole replication (GO:0046599)	2.74199078
82	membrane assembly (GO:0071709)	2.73516686
83	regulation of cardiac muscle cell differentiation (GO:2000725)	2.73501940
84	hindbrain development (GO:0030902)	2.72056478
85	CTP biosynthetic process (GO:0006241)	2.71667225
86	CTP metabolic process (GO:0046036)	2.71667225
87	positive regulation of skeletal muscle tissue development (GO:0048643)	2.70182475
88	retinal ganglion cell axon guidance (GO:0031290)	2.70016606
89	microtubule depolymerization (GO:0007019)	2.69696497
90	dorsal/ventral neural tube patterning (GO:0021904)	2.69611879
91	regulation of potassium ion transmembrane transporter activity (GO:1901016)	2.68396363
92	regulation of membrane depolarization (GO:0003254)	2.67480709
93	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.64961849
94	pyrimidine nucleobase catabolic process (GO:0006208)	2.64815697
95	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.64591961
96	cotranslational protein targeting to membrane (GO:0006613)	2.61699296
97	response to inactivity (GO:0014854)	2.60094237
98	protein complex biogenesis (GO:0070271)	2.57223838
99	protein targeting to ER (GO:0045047)	2.57010079
100	cholesterol catabolic process (GO:0006707)	2.56789144

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	4.53556842
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.47010380
3	EZH2_22144423_ChIP-Seq_EOC_Human	4.44313851
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.08945805
5	IGF1R_20145208_ChIP-Seq_DFB_Human	3.74605487
6	CBX2_27304074_Chip-Seq_ESCs_Mouse	3.28315774
7	ZNF274_21170338_ChIP-Seq_K562_Hela	3.23617576
8	TAF15_26573619_Chip-Seq_HEK293_Human	3.06034742
9	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.64654257
10	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.61427584
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.59494516
12	RNF2_27304074_Chip-Seq_NSC_Mouse	2.56652931
13	EWS_26573619_Chip-Seq_HEK293_Human	2.16330661
14	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.10548040
15	GBX2_23144817_ChIP-Seq_PC3_Human	2.10229619
16	FUS_26573619_Chip-Seq_HEK293_Human	2.09696277
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09086214
18	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.02826930
19	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.01894118
20	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.99537050
21	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.98824127
22	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.94209539
23	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.90393439
24	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.90393439
25	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.89245041
26	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.85801819
27	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.85444466
28	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.71521230
29	REST_21632747_ChIP-Seq_MESCs_Mouse	1.70092757
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.67441009
31	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.64055654
32	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.62261082
33	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.61920946
34	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.57755924
35	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.55989182
36	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.54599146
37	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.54389543
38	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.54238932
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.52220285
40	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.52083513
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.51733872
42	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.50942114
43	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.50942114
44	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.50942114
45	SMAD4_21799915_ChIP-Seq_A2780_Human	1.49846274
46	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.49632769
47	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.49067699
48	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.47790187
49	P300_19829295_ChIP-Seq_ESCs_Human	1.41736730
50	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.41210567
51	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.40609547
52	CBP_20019798_ChIP-Seq_JUKART_Human	1.40609547
53	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.38879394
54	MYC_18940864_ChIP-ChIP_HL60_Human	1.38410811
55	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.38392258
56	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.38392258
57	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.34908282
58	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30702175
59	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26822828
60	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.26777037
61	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.24264980
62	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.23700789
63	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.23503293
64	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.21458826
65	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.20125863
66	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.18366038
67	AR_25329375_ChIP-Seq_VCAP_Human	1.17544428
68	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.16847427
69	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.14710587
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.12912170
71	RUNX2_22187159_ChIP-Seq_PCA_Human	1.11884394
72	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.11352482
73	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.11027014
74	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.10824659
75	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.10800915
76	STAT3_23295773_ChIP-Seq_U87_Human	1.10240988
77	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.05683507
78	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.04894568
79	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.01083724
80	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.00701744
81	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.00515262
82	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.00432224
83	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99191159
84	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.98217365
85	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	0.97617717
86	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.95817592
87	NANOG_19829295_ChIP-Seq_ESCs_Human	0.94349137
88	SOX2_19829295_ChIP-Seq_ESCs_Human	0.94349137
89	JUN_21703547_ChIP-Seq_K562_Human	0.93589757
90	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.92214752
91	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91220474
92	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.90968924
93	TCF4_22108803_ChIP-Seq_LS180_Human	0.90739698
94	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.89542041
95	P53_22387025_ChIP-Seq_ESCs_Mouse	0.89070455
96	ERG_20517297_ChIP-Seq_VCAP_Human	0.88580564
97	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.87479994
98	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.87057556
99	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.86697429
100	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.86455003

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	5.17582408
2	MP0003950_abnormal_plasma_membrane	4.88059557
3	MP0003283_abnormal_digestive_organ	4.85523367
4	MP0002822_catalepsy	3.05690607
5	MP0002234_abnormal_pharynx_morphology	2.68183450
6	MP0004142_abnormal_muscle_tone	2.59261171
7	MP0000566_synostosis	2.49906882
8	MP0003880_abnormal_central_pattern	2.23449809
9	MP0002736_abnormal_nociception_after	2.22705255
10	MP0008789_abnormal_olfactory_epithelium	2.21512914
11	MP0004270_analgesia	2.20292356
12	MP0001299_abnormal_eye_distance/	2.04329951
13	MP0006276_abnormal_autonomic_nervous	2.03567489
14	MP0001486_abnormal_startle_reflex	1.98653864
15	MP0000751_myopathy	1.95138382
16	MP0003136_yellow_coat_color	1.94579096
17	MP0000383_abnormal_hair_follicle	1.91582684
18	MP0005394_taste/olfaction_phenotype	1.86761103
19	MP0005499_abnormal_olfactory_system	1.86761103
20	MP0000749_muscle_degeneration	1.83835608
21	MP0004145_abnormal_muscle_electrophysio	1.82452762
22	MP0001968_abnormal_touch/_nociception	1.77668646
23	MP0001293_anophthalmia	1.74516889
24	MP0001529_abnormal_vocalization	1.72854544
25	MP0005646_abnormal_pituitary_gland	1.65058139
26	MP0003183_abnormal_peptide_metabolism	1.63937138
27	MP0002282_abnormal_trachea_morphology	1.61996379
28	MP0002734_abnormal_mechanical_nocicepti	1.61616396
29	MP0000778_abnormal_nervous_system	1.58012234
30	MP0001270_distended_abdomen	1.51155670
31	MP0001324_abnormal_eye_pigmentation	1.50439434
32	MP0008058_abnormal_DNA_repair	1.48636769
33	MP0002233_abnormal_nose_morphology	1.45893909
34	MP0003122_maternal_imprinting	1.45285819
35	MP0006292_abnormal_olfactory_placode	1.40102746
36	MP0009046_muscle_twitch	1.40090886
37	MP0000955_abnormal_spinal_cord	1.39356553
38	MP0004133_heterotaxia	1.37931612
39	MP0000631_abnormal_neuroendocrine_gland	1.37822509
40	MP0002272_abnormal_nervous_system	1.36538658
41	MP0002751_abnormal_autonomic_nervous	1.34495834
42	MP0009053_abnormal_anal_canal	1.34288731
43	MP0008877_abnormal_DNA_methylation	1.33658867
44	MP0002938_white_spotting	1.32012192
45	MP0003635_abnormal_synaptic_transmissio	1.28709460
46	MP0001188_hyperpigmentation	1.19982484
47	MP0001440_abnormal_grooming_behavior	1.18303086
48	MP0003011_delayed_dark_adaptation	1.13122699
49	MP0001485_abnormal_pinna_reflex	1.09338926
50	MP0002067_abnormal_sensory_capabilities	1.08931192
51	MP0002572_abnormal_emotion/affect_behav	1.05149161
52	MP0003890_abnormal_embryonic-extraembry	1.02877880
53	MP0003718_maternal_effect	1.02770439
54	MP0003938_abnormal_ear_development	1.02766831
55	MP0001286_abnormal_eye_development	1.02621678
56	MP0002064_seizures	1.02541426
57	MP0003385_abnormal_body_wall	1.01653774
58	MP0000579_abnormal_nail_morphology	1.01395438
59	MP0010678_abnormal_skin_adnexa	1.01298941
60	MP0009250_abnormal_appendicular_skeleto	0.98201165
61	MP0008961_abnormal_basal_metabolism	0.97840080
62	MP0004215_abnormal_myocardial_fiber	0.92433908
63	MP0005503_abnormal_tendon_morphology	0.91795518
64	MP0002733_abnormal_thermal_nociception	0.90716474
65	MP0002106_abnormal_muscle_physiology	0.87943393
66	MP0002063_abnormal_learning/memory/cond	0.87715884
67	MP0003935_abnormal_craniofacial_develop	0.87605486
68	MP0000026_abnormal_inner_ear	0.87015583
69	MP0005623_abnormal_meninges_morphology	0.86893542
70	MP0002928_abnormal_bile_duct	0.84283005
71	MP0002752_abnormal_somatic_nervous	0.82958997
72	MP0009745_abnormal_behavioral_response	0.82319993
73	MP0000750_abnormal_muscle_regeneration	0.79724911
74	MP0002210_abnormal_sex_determination	0.79404794
75	MP0006072_abnormal_retinal_apoptosis	0.79148816
76	MP0002184_abnormal_innervation	0.77969940
77	MP0002653_abnormal_ependyma_morphology	0.77734106
78	MP0003121_genomic_imprinting	0.77682190
79	MP0004811_abnormal_neuron_physiology	0.77588621
80	MP0005084_abnormal_gallbladder_morpholo	0.77506400
81	MP0003937_abnormal_limbs/digits/tail_de	0.76760940
82	MP0001970_abnormal_pain_threshold	0.75966576
83	MP0003755_abnormal_palate_morphology	0.74943606
84	MP0003119_abnormal_digestive_system	0.74875873
85	MP0004924_abnormal_behavior	0.74537285
86	MP0005386_behavior/neurological_phenoty	0.74537285
87	MP0003567_abnormal_fetal_cardiomyocyte	0.73995268
88	MP0005253_abnormal_eye_physiology	0.73319898
89	MP0010030_abnormal_orbit_morphology	0.72702038
90	MP0005365_abnormal_bile_salt	0.72421905
91	MP0002735_abnormal_chemical_nociception	0.72387319
92	MP0008995_early_reproductive_senescence	0.71702027
93	MP0005195_abnormal_posterior_eye	0.70897728
94	MP0000049_abnormal_middle_ear	0.69747234
95	MP0002277_abnormal_respiratory_mucosa	0.69007230
96	MP0005369_muscle_phenotype	0.68871364
97	MP0005551_abnormal_eye_electrophysiolog	0.67613365
98	MP0005083_abnormal_biliary_tract	0.67214471
99	MP0002882_abnormal_neuron_morphology	0.64909202
100	MP0003861_abnormal_nervous_system	0.64542278

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Calf muscle hypertrophy (HP:0008981)	6.45783941
2	Muscle hypertrophy of the lower extremities (HP:0008968)	5.67522865
3	Muscle stiffness (HP:0003552)	4.20288519
4	Exercise-induced muscle cramps (HP:0003710)	4.12397953
5	Subaortic stenosis (HP:0001682)	4.07922132
6	Abnormality of the left ventricular outflow tract (HP:0011103)	4.07922132
7	Increased corneal curvature (HP:0100692)	4.00099046
8	Keratoconus (HP:0000563)	4.00099046
9	Concave nail (HP:0001598)	3.74692352
10	Atonic seizures (HP:0010819)	3.65385994
11	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	3.54952477
12	Febrile seizures (HP:0002373)	3.48776410
13	Abnormality of cells of the erythroid lineage (HP:0012130)	3.38188784
14	Myotonia (HP:0002486)	3.37484583
15	Poor suck (HP:0002033)	3.29671714
16	Type II lissencephaly (HP:0007260)	3.25959504
17	Retinal dysplasia (HP:0007973)	3.23061379
18	Exercise-induced myalgia (HP:0003738)	3.19373593
19	Tubulointerstitial nephritis (HP:0001970)	3.13613498
20	Abnormality of the frontal sinuses (HP:0002687)	3.13391021
21	Abnormal number of erythroid precursors (HP:0012131)	3.10517938
22	Sudden death (HP:0001699)	2.96210624
23	Renal cortical cysts (HP:0000803)	2.95657937
24	Abnormality of the calf musculature (HP:0001430)	2.77992542
25	Flat capital femoral epiphysis (HP:0003370)	2.74624937
26	Hypothermia (HP:0002045)	2.74332239
27	Acute necrotizing encephalopathy (HP:0006965)	2.74208435
28	Maternal diabetes (HP:0009800)	2.71283628
29	Turricephaly (HP:0000262)	2.71223707
30	Shoulder girdle muscle weakness (HP:0003547)	2.70065500
31	Focal motor seizures (HP:0011153)	2.65714022
32	High anterior hairline (HP:0009890)	2.64127822
33	Myokymia (HP:0002411)	2.59644362
34	Abnormality of the renal cortex (HP:0011035)	2.59084386
35	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.58390944
36	Hepatocellular necrosis (HP:0001404)	2.56465624
37	Cerebellar dysplasia (HP:0007033)	2.55660871
38	Rimmed vacuoles (HP:0003805)	2.53691431
39	Palpebral edema (HP:0100540)	2.52721976
40	Abnormality of the incisor (HP:0000676)	2.44777649
41	Failure to thrive in infancy (HP:0001531)	2.44654839
42	Molar tooth sign on MRI (HP:0002419)	2.42471799
43	Abnormality of midbrain morphology (HP:0002418)	2.42471799
44	Hypoplasia of the thymus (HP:0000778)	2.38764471
45	Median cleft lip (HP:0000161)	2.38497488
46	Focal seizures (HP:0007359)	2.38159121
47	Pendular nystagmus (HP:0012043)	2.37353233
48	Limb dystonia (HP:0002451)	2.35791326
49	Mitochondrial inheritance (HP:0001427)	2.31931805
50	Abnormal mitochondria in muscle tissue (HP:0008316)	2.31099943
51	Patellar aplasia (HP:0006443)	2.30205712
52	Asymmetric septal hypertrophy (HP:0001670)	2.30195065
53	Lissencephaly (HP:0001339)	2.29768258
54	True hermaphroditism (HP:0010459)	2.29052917
55	Sclerocornea (HP:0000647)	2.26799119
56	Nephronophthisis (HP:0000090)	2.24486170
57	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.22037354
58	Gowers sign (HP:0003391)	2.21134170
59	Abnormality of the shoulder girdle musculature (HP:0001435)	2.17580744
60	Aplasia/Hypoplasia of the patella (HP:0006498)	2.16175202
61	Abnormality of the columella (HP:0009929)	2.14548760
62	Progressive macrocephaly (HP:0004481)	2.11184315
63	Hip dysplasia (HP:0001385)	2.11016387
64	Abnormality of the labia minora (HP:0012880)	2.10164510
65	Abnormality of the intervertebral disk (HP:0005108)	2.08533360
66	Septo-optic dysplasia (HP:0100842)	2.08208843
67	Hepatic necrosis (HP:0002605)	2.06846000
68	Absent phalangeal crease (HP:0006109)	2.05751882
69	Retinal atrophy (HP:0001105)	2.05339042
70	Type 2 muscle fiber atrophy (HP:0003554)	2.04526407
71	Increased CSF lactate (HP:0002490)	2.02872351
72	Cerebral edema (HP:0002181)	2.01644772
73	Acute encephalopathy (HP:0006846)	1.98746519
74	Narrow nasal bridge (HP:0000446)	1.98124501
75	Skin nodule (HP:0200036)	1.97091471
76	Abolished electroretinogram (ERG) (HP:0000550)	1.91230757
77	Aplasia of the musculature (HP:0100854)	1.90706071
78	Pancreatic fibrosis (HP:0100732)	1.90315709
79	Tubular atrophy (HP:0000092)	1.87346748
80	Polyphagia (HP:0002591)	1.86701877
81	Abnormal rod and cone electroretinograms (HP:0008323)	1.85428921
82	Pachygyria (HP:0001302)	1.84008076
83	Pancreatic cysts (HP:0001737)	1.83203684
84	CNS demyelination (HP:0007305)	1.82634769
85	Bilateral microphthalmos (HP:0007633)	1.81901655
86	Abnormal finger flexion creases (HP:0006143)	1.81198041
87	Prolonged QT interval (HP:0001657)	1.80756664
88	Lower limb hyperreflexia (HP:0002395)	1.78872579
89	Spastic gait (HP:0002064)	1.78459251
90	Abnormality of transition element cation homeostasis (HP:0011030)	1.77347486
91	Abnormal eating behavior (HP:0100738)	1.76486974
92	Bony spicule pigmentary retinopathy (HP:0007737)	1.74662137
93	Ankle clonus (HP:0011448)	1.74596972
94	Tubulointerstitial abnormality (HP:0001969)	1.73897836
95	Axonal loss (HP:0003447)	1.73463166
96	Amyotrophic lateral sclerosis (HP:0007354)	1.72089215
97	Oligomenorrhea (HP:0000876)	1.71861206
98	Benign neoplasm of the central nervous system (HP:0100835)	1.71665275
99	Flat cornea (HP:0007720)	1.71340134
100	Optic nerve hypoplasia (HP:0000609)	1.70152151

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	5.00935941
2	MAPKAPK5	4.14799879
3	VRK2	3.36814683
4	CCNB1	2.93781265
5	WNK3	2.72518288
6	TNIK	2.61865359
7	MAP3K12	2.60789003
8	TAF1	2.46224555
9	CDK8	2.24640900
10	BCKDK	2.09713606
11	EPHA4	2.03853332
12	MAPK13	1.93814196
13	PDK2	1.84757553
14	VRK1	1.79489427
15	PINK1	1.67682862
16	NUAK1	1.65243586
17	CASK	1.64363623
18	UHMK1	1.63623423
19	PASK	1.55378715
20	BCR	1.54832043
21	MAP2K7	1.49892245
22	EPHB2	1.49019462
23	STK16	1.43232458
24	ARAF	1.43153175
25	NTRK2	1.39672834
26	MINK1	1.38152683
27	PLK4	1.34455874
28	DYRK2	1.33912204
29	DMPK	1.32860430
30	CSNK1G2	1.31810426
31	CDK19	1.29846201
32	OXSR1	1.26277839
33	MAP3K4	1.25655227
34	MAPK15	1.23023008
35	DYRK1A	1.21465249
36	MELK	1.17420913
37	PIK3CG	1.16499733
38	TAOK1	1.14281355
39	MOS	1.09280131
40	KIT	1.07237968
41	MAPK7	1.05618951
42	MARK1	1.03821644
43	MAP2K4	1.03216707
44	MKNK1	0.97595726
45	PAK2	0.90171825
46	GRK1	0.87648063
47	CSNK1A1L	0.86578444
48	PRKCG	0.84062417
49	PAK6	0.81937910
50	CSNK1G3	0.80704566
51	CAMK2B	0.78528959
52	DYRK3	0.77164217
53	ZAK	0.76403707
54	NEK2	0.75070805
55	PRKCE	0.74394599
56	SGK494	0.72684332
57	SGK223	0.72684332
58	PAK3	0.70647194
59	CAMK2G	0.70015419
60	PIK3CA	0.69389400
61	FRK	0.66401625
62	AURKA	0.65552010
63	CSNK1G1	0.64804726
64	ADRBK2	0.63012597
65	DAPK2	0.59797179
66	CAMK2A	0.59745976
67	BMPR1B	0.56071229
68	TLK1	0.55682242
69	TSSK6	0.54554458
70	PRKACB	0.48828002
71	ADRBK1	0.47957143
72	INSRR	0.44470880
73	GRK5	0.44462598
74	TRIM28	0.43943710
75	CSNK2A2	0.43840035
76	MAP3K9	0.42620610
77	CAMK2D	0.42606144
78	CSNK1D	0.42472631
79	NME1	0.40940637
80	WEE1	0.38778999
81	PRKACA	0.37979947
82	DAPK1	0.37594849
83	STK11	0.36034203
84	ERBB3	0.35386775
85	CSNK2A1	0.34580571
86	MKNK2	0.34334176
87	OBSCN	0.34209668
88	CDK3	0.33190664
89	SIK2	0.32838455
90	WNK4	0.32219449
91	PRKG1	0.30868180
92	SGK1	0.30760346
93	CDK11A	0.30599497
94	KSR1	0.30440036
95	CDK14	0.30402522
96	ABL1	0.30313895
97	DAPK3	0.30140040
98	TXK	0.29146097
99	MAPK4	0.28895721
100	CDK15	0.28280844

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.28926812
2	Ribosome_Homo sapiens_hsa03010	3.16536050
3	Parkinsons disease_Homo sapiens_hsa05012	2.98101193
4	Protein export_Homo sapiens_hsa03060	2.86717958
5	Nicotine addiction_Homo sapiens_hsa05033	2.61821490
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.47116574
7	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.37867937
8	Selenocompound metabolism_Homo sapiens_hsa00450	2.34374329
9	Sulfur relay system_Homo sapiens_hsa04122	2.29247026
10	Huntingtons disease_Homo sapiens_hsa05016	2.26291453
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.12155261
12	Alzheimers disease_Homo sapiens_hsa05010	2.07249219
13	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.05782215
14	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.96679590
15	GABAergic synapse_Homo sapiens_hsa04727	1.94259719
16	Propanoate metabolism_Homo sapiens_hsa00640	1.88913316
17	Basal transcription factors_Homo sapiens_hsa03022	1.83198322
18	beta-Alanine metabolism_Homo sapiens_hsa00410	1.79651583
19	Regulation of autophagy_Homo sapiens_hsa04140	1.72109777
20	Taste transduction_Homo sapiens_hsa04742	1.67415107
21	Pyruvate metabolism_Homo sapiens_hsa00620	1.63708548
22	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.61376951
23	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.60221006
24	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.55038703
25	Sulfur metabolism_Homo sapiens_hsa00920	1.51621075
26	Morphine addiction_Homo sapiens_hsa05032	1.49945460
27	Tryptophan metabolism_Homo sapiens_hsa00380	1.49600411
28	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.47251775
29	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.44053595
30	Phototransduction_Homo sapiens_hsa04744	1.33793636
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.29300683
32	Folate biosynthesis_Homo sapiens_hsa00790	1.27808602
33	Linoleic acid metabolism_Homo sapiens_hsa00591	1.27403622
34	Histidine metabolism_Homo sapiens_hsa00340	1.23755616
35	Serotonergic synapse_Homo sapiens_hsa04726	1.18968846
36	Basal cell carcinoma_Homo sapiens_hsa05217	1.18021877
37	Non-homologous end-joining_Homo sapiens_hsa03450	1.18018182
38	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.13905310
39	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.13404849
40	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.06938399
41	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.06694863
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.04073763
43	Glycerolipid metabolism_Homo sapiens_hsa00561	1.00135968
44	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.98287277
45	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.98023049
46	Olfactory transduction_Homo sapiens_hsa04740	0.95956316
47	ABC transporters_Homo sapiens_hsa02010	0.92799813
48	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.92419662
49	Homologous recombination_Homo sapiens_hsa03440	0.91712823
50	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.83805169
51	Purine metabolism_Homo sapiens_hsa00230	0.83149150
52	RNA polymerase_Homo sapiens_hsa03020	0.82936421
53	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.82101800
54	Mismatch repair_Homo sapiens_hsa03430	0.80026308
55	Pyrimidine metabolism_Homo sapiens_hsa00240	0.78712038
56	One carbon pool by folate_Homo sapiens_hsa00670	0.77757223
57	Dopaminergic synapse_Homo sapiens_hsa04728	0.77255480
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.73986850
59	Glutamatergic synapse_Homo sapiens_hsa04724	0.73400337
60	Circadian entrainment_Homo sapiens_hsa04713	0.72078389
61	Caffeine metabolism_Homo sapiens_hsa00232	0.69483798
62	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.68860296
63	Nucleotide excision repair_Homo sapiens_hsa03420	0.66122781
64	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.64446433
65	Proteasome_Homo sapiens_hsa03050	0.63835444
66	Axon guidance_Homo sapiens_hsa04360	0.63101372
67	Spliceosome_Homo sapiens_hsa03040	0.62351642
68	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.60677242
69	Hippo signaling pathway_Homo sapiens_hsa04390	0.60596303
70	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.60437855
71	Peroxisome_Homo sapiens_hsa04146	0.59039396
72	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.57795264
73	Retinol metabolism_Homo sapiens_hsa00830	0.54717637
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.53313447
75	Wnt signaling pathway_Homo sapiens_hsa04310	0.53077393
76	Alcoholism_Homo sapiens_hsa05034	0.52063801
77	Ether lipid metabolism_Homo sapiens_hsa00565	0.50396503
78	Collecting duct acid secretion_Homo sapiens_hsa04966	0.50308734
79	Metabolic pathways_Homo sapiens_hsa01100	0.47615855
80	Viral myocarditis_Homo sapiens_hsa05416	0.46555494
81	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.44892972
82	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.43492359
83	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.42617103
84	Butanoate metabolism_Homo sapiens_hsa00650	0.41507678
85	Oocyte meiosis_Homo sapiens_hsa04114	0.41252647
86	Cocaine addiction_Homo sapiens_hsa05030	0.41174172
87	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.40470938
88	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.39363484
89	Asthma_Homo sapiens_hsa05310	0.39091382
90	Chemical carcinogenesis_Homo sapiens_hsa05204	0.38129503
91	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.38100961
92	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.37577351
93	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.36604633
94	Amphetamine addiction_Homo sapiens_hsa05031	0.36365232
95	cAMP signaling pathway_Homo sapiens_hsa04024	0.35440168
96	Colorectal cancer_Homo sapiens_hsa05210	0.32258391
97	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31744141
98	Melanogenesis_Homo sapiens_hsa04916	0.29328721
99	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.28247401
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.27982674

PIGFP1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »