ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.17076060
2	DNA double-strand break processing (GO:0000729)	4.11235507
3	lactate metabolic process (GO:0006089)	4.06256475
4	protein-cofactor linkage (GO:0018065)	3.92409116
5	positive regulation of mitotic sister chromatid separation (GO:1901970)	3.72638240
6	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	3.72638240
7	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	3.72638240
8	protein K11-linked deubiquitination (GO:0035871)	3.67752663
9	regulation of glucokinase activity (GO:0033131)	3.52537268
10	regulation of hexokinase activity (GO:1903299)	3.52537268
11	protein polyglutamylation (GO:0018095)	3.47093272
12	kynurenine metabolic process (GO:0070189)	3.34542545
13	response to pheromone (GO:0019236)	3.33054328
14	regulation of meiosis I (GO:0060631)	3.31532464
15	centriole replication (GO:0007099)	3.31320730
16	positive regulation of protein autophosphorylation (GO:0031954)	3.30644746
17	respiratory chain complex IV assembly (GO:0008535)	3.27784301
18	replication fork processing (GO:0031297)	3.26205417
19	platelet dense granule organization (GO:0060155)	3.21363343
20	regulation of cilium movement (GO:0003352)	3.20352482
21	cytochrome complex assembly (GO:0017004)	3.19582592
22	tryptophan catabolic process (GO:0006569)	3.16282598
23	indole-containing compound catabolic process (GO:0042436)	3.16282598
24	indolalkylamine catabolic process (GO:0046218)	3.16282598
25	keratinocyte development (GO:0003334)	3.15481770
26	anterograde synaptic vesicle transport (GO:0048490)	3.14123520
27	recombinational repair (GO:0000725)	3.13957565
28	adaptation of signaling pathway (GO:0023058)	3.13648504
29	double-strand break repair via homologous recombination (GO:0000724)	3.09921754
30	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.08280247
31	axoneme assembly (GO:0035082)	3.04915236
32	auditory receptor cell stereocilium organization (GO:0060088)	3.03841244
33	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.01496093
34	protein prenylation (GO:0018342)	3.01179482
35	prenylation (GO:0097354)	3.01179482
36	zinc ion transport (GO:0006829)	3.00024549
37	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.96173971
38	histone H2A acetylation (GO:0043968)	2.94587003
39	DNA deamination (GO:0045006)	2.91638522
40	proteasome assembly (GO:0043248)	2.87194319
41	positive regulation of histone H3-K4 methylation (GO:0051571)	2.85904987
42	synapsis (GO:0007129)	2.85378433
43	histone mRNA catabolic process (GO:0071044)	2.84043721
44	DNA catabolic process, exonucleolytic (GO:0000738)	2.81717348
45	L-fucose catabolic process (GO:0042355)	2.80208505
46	fucose catabolic process (GO:0019317)	2.80208505
47	L-fucose metabolic process (GO:0042354)	2.80208505
48	piRNA metabolic process (GO:0034587)	2.79735229
49	cornea development in camera-type eye (GO:0061303)	2.79656084
50	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.79339208
51	regulation of mitotic spindle checkpoint (GO:1903504)	2.79339208
52	branched-chain amino acid catabolic process (GO:0009083)	2.77592202
53	positive regulation of prostaglandin secretion (GO:0032308)	2.76748400
54	righting reflex (GO:0060013)	2.76319829
55	glycerophospholipid catabolic process (GO:0046475)	2.71310177
56	photoreceptor cell maintenance (GO:0045494)	2.69912066
57	regulation of male gonad development (GO:2000018)	2.69892887
58	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.69302195
59	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.69302195
60	regulation of translation, ncRNA-mediated (GO:0045974)	2.69302195
61	inner ear receptor stereocilium organization (GO:0060122)	2.67711884
62	water-soluble vitamin biosynthetic process (GO:0042364)	2.67057300
63	inositol phosphate catabolic process (GO:0071545)	2.65698471
64	mannosylation (GO:0097502)	2.64792772
65	indolalkylamine metabolic process (GO:0006586)	2.63940297
66	response to lipoprotein particle (GO:0055094)	2.63809046
67	lipid particle organization (GO:0034389)	2.60575532
68	negative regulation of cAMP-mediated signaling (GO:0043951)	2.58530575
69	mitotic sister chromatid segregation (GO:0000070)	2.56797904
70	vascular smooth muscle contraction (GO:0014829)	2.56043009
71	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.55254109
72	retinal cone cell development (GO:0046549)	2.54475434
73	tryptophan metabolic process (GO:0006568)	2.54253547
74	positive regulation of meiosis (GO:0045836)	2.51378767
75	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.49456567
76	benzene-containing compound metabolic process (GO:0042537)	2.48281231
77	postreplication repair (GO:0006301)	2.48060915
78	DNA ligation (GO:0006266)	2.47897433
79	cilium morphogenesis (GO:0060271)	2.47674414
80	polyol catabolic process (GO:0046174)	2.45765018
81	sister chromatid segregation (GO:0000819)	2.45093375
82	Sertoli cell development (GO:0060009)	2.43010559
83	regulation of timing of cell differentiation (GO:0048505)	2.42907277
84	signal peptide processing (GO:0006465)	2.42100722
85	negative regulation of neurological system process (GO:0031645)	2.41609111
86	cellular biogenic amine catabolic process (GO:0042402)	2.40164580
87	amine catabolic process (GO:0009310)	2.40164580
88	cullin deneddylation (GO:0010388)	2.39565821
89	protein complex biogenesis (GO:0070271)	2.39189356
90	nonmotile primary cilium assembly (GO:0035058)	2.39049432
91	ketone body metabolic process (GO:1902224)	2.38032369
92	response to X-ray (GO:0010165)	2.37909942
93	cyclic nucleotide catabolic process (GO:0009214)	2.36998257
94	double-strand break repair (GO:0006302)	2.36942952
95	cellular ketone body metabolic process (GO:0046950)	2.36615830
96	male meiosis (GO:0007140)	2.35975594
97	regulation of neurotransmitter uptake (GO:0051580)	2.35443997
98	regulation of integrin-mediated signaling pathway (GO:2001044)	2.34917298
99	mitochondrial respiratory chain complex assembly (GO:0033108)	2.33801282
100	regulation of telomere maintenance (GO:0032204)	2.33013354

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SALL1_21062744_ChIP-ChIP_HESCs_Human	4.53602057
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.09667323
3	VDR_22108803_ChIP-Seq_LS180_Human	2.94089332
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.88226125
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.86964792
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.61192769
7	E2F7_22180533_ChIP-Seq_HELA_Human	2.58607435
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.56202525
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.34861812
10	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.34463890
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.23085583
12	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.19468496
13	FUS_26573619_Chip-Seq_HEK293_Human	2.17882171
14	EWS_26573619_Chip-Seq_HEK293_Human	2.17440731
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.16030134
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.14410930
17	P300_19829295_ChIP-Seq_ESCs_Human	2.13766234
18	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.12464476
19	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.08553125
20	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.01953684
21	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.96444874
22	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.90240974
23	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.81795680
24	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.75823511
25	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.74748403
26	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.72854995
27	BCAT_22108803_ChIP-Seq_LS180_Human	1.70951047
28	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.70021277
29	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.69694175
30	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.67182429
31	ER_23166858_ChIP-Seq_MCF-7_Human	1.65852889
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.65666115
33	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.64049500
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.63308290
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.63308290
36	ELK1_19687146_ChIP-ChIP_HELA_Human	1.62195999
37	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.61362011
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.58924634
39	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.57443013
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.55536562
41	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.53628466
42	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.53257049
43	TAF15_26573619_Chip-Seq_HEK293_Human	1.53164571
44	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.52495552
45	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.50004757
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.49053190
47	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.47662040
48	STAT3_23295773_ChIP-Seq_U87_Human	1.43499749
49	AR_25329375_ChIP-Seq_VCAP_Human	1.41938523
50	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.41634981
51	TCF4_23295773_ChIP-Seq_U87_Human	1.41302418
52	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41151146
53	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.38519290
54	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.36860962
55	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.36065119
56	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34845906
57	TCF4_22108803_ChIP-Seq_LS180_Human	1.34454933
58	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.33656313
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.32838208
60	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.31655287
61	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.30488729
62	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.30023187
63	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.29552451
64	CDX2_22108803_ChIP-Seq_LS180_Human	1.28109047
65	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.26467955
66	P53_22387025_ChIP-Seq_ESCs_Mouse	1.25445570
67	MYC_18940864_ChIP-ChIP_HL60_Human	1.25276451
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.25015574
69	SOX2_19829295_ChIP-Seq_ESCs_Human	1.25015574
70	TP53_22573176_ChIP-Seq_HFKS_Human	1.24963834
71	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.22674937
72	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.22373940
73	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.20700525
74	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.20466279
75	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.18561745
76	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.17049391
77	P300_18555785_Chip-Seq_ESCs_Mouse	1.15158729
78	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.14770886
79	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.14762712
80	RUNX2_22187159_ChIP-Seq_PCA_Human	1.14740640
81	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.11839105
82	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.11839105
83	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.10942777
84	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.10442257
85	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.09052570
86	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.08871861
87	VDR_23849224_ChIP-Seq_CD4+_Human	1.08552910
88	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.06792179
89	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.05788456
90	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.05482332
91	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.04771820
92	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.04731368
93	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03205377
94	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.01002088
95	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.00477964
96	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.99836632
97	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.98403257
98	TBL1_22424771_ChIP-Seq_293T_Human	0.98027205
99	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.97561825
100	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.97140803

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008057_abnormal_DNA_replication	4.39678845
2	MP0000372_irregular_coat_pigmentation	3.33984557
3	MP0008877_abnormal_DNA_methylation	3.28641272
4	MP0009780_abnormal_chondrocyte_physiolo	3.03280074
5	MP0002102_abnormal_ear_morphology	2.95168236
6	MP0003195_calcinosis	2.88839654
7	MP0003011_delayed_dark_adaptation	2.57851331
8	MP0002938_white_spotting	2.50662530
9	MP0003950_abnormal_plasma_membrane	2.41493454
10	MP0002837_dystrophic_cardiac_calcinosis	2.38447730
11	MP0000427_abnormal_hair_cycle	2.35753860
12	MP0002254_reproductive_system_inflammat	2.28198967
13	MP0010094_abnormal_chromosome_stability	2.26551140
14	MP0003787_abnormal_imprinting	2.23739825
15	MP0000569_abnormal_digit_pigmentation	2.15829666
16	MP0005551_abnormal_eye_electrophysiolog	2.12464055
17	MP0006072_abnormal_retinal_apoptosis	2.10472885
18	MP0005253_abnormal_eye_physiology	2.07519563
19	MP0005075_abnormal_melanosome_morpholog	2.05168693
20	MP0008058_abnormal_DNA_repair	1.93347036
21	MP0003283_abnormal_digestive_organ	1.92078402
22	MP0003786_premature_aging	1.85316277
23	MP0005174_abnormal_tail_pigmentation	1.75380844
24	MP0006054_spinal_hemorrhage	1.74262439
25	MP0004215_abnormal_myocardial_fiber	1.71070719
26	MP0002876_abnormal_thyroid_physiology	1.65766339
27	MP0003121_genomic_imprinting	1.57780834
28	MP0004134_abnormal_chest_morphology	1.57578497
29	MP0003186_abnormal_redox_activity	1.57258054
30	MP0005379_endocrine/exocrine_gland_phen	1.56409725
31	MP0005645_abnormal_hypothalamus_physiol	1.51911691
32	MP0000538_abnormal_urinary_bladder	1.44254480
33	MP0001984_abnormal_olfaction	1.41663948
34	MP0005367_renal/urinary_system_phenotyp	1.40041481
35	MP0000516_abnormal_urinary_system	1.40041481
36	MP0003718_maternal_effect	1.39276883
37	MP0003890_abnormal_embryonic-extraembry	1.38553939
38	MP0000015_abnormal_ear_pigmentation	1.37425019
39	MP0000647_abnormal_sebaceous_gland	1.36506743
40	MP0005187_abnormal_penis_morphology	1.36457362
41	MP0002163_abnormal_gland_morphology	1.32717603
42	MP0002736_abnormal_nociception_after	1.28142830
43	MP0008872_abnormal_physiological_respon	1.25102588
44	MP0009046_muscle_twitch	1.20053883
45	MP0003136_yellow_coat_color	1.18333193
46	MP0002095_abnormal_skin_pigmentation	1.18041687
47	MP0008007_abnormal_cellular_replicative	1.11776171
48	MP0008995_early_reproductive_senescence	1.11518274
49	MP0002909_abnormal_adrenal_gland	1.09929401
50	MP0000639_abnormal_adrenal_gland	1.06960211
51	MP0005408_hypopigmentation	1.06063774
52	MP0003172_abnormal_lysosome_physiology	1.05964390
53	MP0001529_abnormal_vocalization	1.04673329
54	MP0000631_abnormal_neuroendocrine_gland	1.02868619
55	MP0002233_abnormal_nose_morphology	1.01467636
56	MP0008875_abnormal_xenobiotic_pharmacok	0.99646361
57	MP0001485_abnormal_pinna_reflex	0.99130451
58	MP0009250_abnormal_appendicular_skeleto	0.98039285
59	MP0005171_absent_coat_pigmentation	0.96059259
60	MP0000358_abnormal_cell_content/	0.95825785
61	MP0001929_abnormal_gametogenesis	0.95169323
62	MP0001486_abnormal_startle_reflex	0.93434071
63	MP0006036_abnormal_mitochondrial_physio	0.93140824
64	MP0003943_abnormal_hepatobiliary_system	0.91764546
65	MP0001764_abnormal_homeostasis	0.91320340
66	MP0001968_abnormal_touch/_nociception	0.91315448
67	MP0010386_abnormal_urinary_bladder	0.90340482
68	MP0005646_abnormal_pituitary_gland	0.89232420
69	MP0002751_abnormal_autonomic_nervous	0.89126037
70	MP0000013_abnormal_adipose_tissue	0.87779299
71	MP0002282_abnormal_trachea_morphology	0.87617557
72	MP0002295_abnormal_pulmonary_circulatio	0.87314046
73	MP0004147_increased_porphyrin_level	0.86399617
74	MP0005410_abnormal_fertilization	0.84375829
75	MP0000383_abnormal_hair_follicle	0.83937269
76	MP0004924_abnormal_behavior	0.82569183
77	MP0005386_behavior/neurological_phenoty	0.82569183
78	MP0008789_abnormal_olfactory_epithelium	0.81744864
79	MP0001501_abnormal_sleep_pattern	0.81603570
80	MP0009697_abnormal_copulation	0.81056998
81	MP0000653_abnormal_sex_gland	0.79512803
82	MP0002090_abnormal_vision	0.78436623
83	MP0001270_distended_abdomen	0.77961009
84	MP0002210_abnormal_sex_determination	0.77451037
85	MP0003122_maternal_imprinting	0.73695643
86	MP0001944_abnormal_pancreas_morphology	0.73092311
87	MP0003937_abnormal_limbs/digits/tail_de	0.71581347
88	MP0002234_abnormal_pharynx_morphology	0.70801851
89	MP0000462_abnormal_digestive_system	0.70713837
90	MP0003656_abnormal_erythrocyte_physiolo	0.70644387
91	MP0003698_abnormal_male_reproductive	0.69098144
92	MP0004142_abnormal_muscle_tone	0.69080817
93	MP0005391_vision/eye_phenotype	0.68223699
94	MP0001119_abnormal_female_reproductive	0.67737829
95	MP0005332_abnormal_amino_acid	0.67515436
96	MP0005636_abnormal_mineral_homeostasis	0.66437772
97	MP0005395_other_phenotype	0.66428266
98	MP0002638_abnormal_pupillary_reflex	0.65947589
99	MP0003252_abnormal_bile_duct	0.65209778
100	MP0003111_abnormal_nucleus_morphology	0.64247538

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the labia minora (HP:0012880)	3.80785723
2	Molar tooth sign on MRI (HP:0002419)	3.40371110
3	Abnormality of midbrain morphology (HP:0002418)	3.40371110
4	True hermaphroditism (HP:0010459)	3.12221545
5	Pancreatic fibrosis (HP:0100732)	3.06692392
6	Pancreatic cysts (HP:0001737)	3.05044270
7	Hypoplastic labia majora (HP:0000059)	3.03198631
8	Metaphyseal dysplasia (HP:0100255)	2.90886014
9	Pancreatic islet-cell hyperplasia (HP:0004510)	2.81803754
10	Hyperinsulinemic hypoglycemia (HP:0000825)	2.81079460
11	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.77943353
12	Intestinal atresia (HP:0011100)	2.76292237
13	Chronic hepatic failure (HP:0100626)	2.75476584
14	Ependymoma (HP:0002888)	2.71986798
15	Nephronophthisis (HP:0000090)	2.71980018
16	Abnormality of the labia majora (HP:0012881)	2.70284774
17	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.63937037
18	Chromsome breakage (HP:0040012)	2.60699825
19	Ketoacidosis (HP:0001993)	2.54250905
20	Labial hypoplasia (HP:0000066)	2.51043817
21	Abnormality of the renal cortex (HP:0011035)	2.43633442
22	Abnormality of the renal medulla (HP:0100957)	2.42247421
23	Hypoglycemic seizures (HP:0002173)	2.41433359
24	Hypoplastic female external genitalia (HP:0012815)	2.36655460
25	Abnormality of the astrocytes (HP:0100707)	2.33726875
26	Astrocytoma (HP:0009592)	2.33726875
27	Short middle phalanx of the 5th finger (HP:0004220)	2.30525997
28	Hypothermia (HP:0002045)	2.29538200
29	Thyroiditis (HP:0100646)	2.29296644
30	Congenital sensorineural hearing impairment (HP:0008527)	2.29295559
31	Abnormality of endocrine pancreas physiology (HP:0012093)	2.25754521
32	Abnormality of the pancreatic islet cells (HP:0006476)	2.25754521
33	Abnormality of the metopic suture (HP:0005556)	2.25478906
34	Attenuation of retinal blood vessels (HP:0007843)	2.25215953
35	Hypoplastic iliac wings (HP:0002866)	2.24696925
36	Medial flaring of the eyebrow (HP:0010747)	2.22109177
37	Large for gestational age (HP:0001520)	2.21860345
38	Hyperglycemia (HP:0003074)	2.21741732
39	Small hand (HP:0200055)	2.18765034
40	Hyperventilation (HP:0002883)	2.17331240
41	Volvulus (HP:0002580)	2.15650333
42	Long clavicles (HP:0000890)	2.15356627
43	Microglossia (HP:0000171)	2.09097845
44	Congenital stationary night blindness (HP:0007642)	2.09054943
45	Disproportionate short-trunk short stature (HP:0003521)	2.08492630
46	Hypoglycemic coma (HP:0001325)	2.08379565
47	Hypoplasia of the fovea (HP:0007750)	2.07023653
48	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.07023653
49	Type II lissencephaly (HP:0007260)	2.04556156
50	Progressive macrocephaly (HP:0004481)	2.03647458
51	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.02084685
52	Abnormality of the labia (HP:0000058)	2.01206148
53	Glioma (HP:0009733)	1.98233922
54	Methylmalonic acidemia (HP:0002912)	1.96738573
55	Acute necrotizing encephalopathy (HP:0006965)	1.94896453
56	Tubular atrophy (HP:0000092)	1.93051483
57	Hypomagnesemia (HP:0002917)	1.91005410
58	Abnormality of chromosome stability (HP:0003220)	1.89689380
59	Hypoplastic ischia (HP:0003175)	1.86173208
60	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.85865746
61	Gaze-evoked nystagmus (HP:0000640)	1.85434779
62	Mitochondrial inheritance (HP:0001427)	1.85234049
63	Abnormal rod and cone electroretinograms (HP:0008323)	1.84231416
64	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	1.82717318
65	Prominent metopic ridge (HP:0005487)	1.82519457
66	Decreased muscle mass (HP:0003199)	1.81372117
67	Oculomotor apraxia (HP:0000657)	1.80153902
68	Aqueductal stenosis (HP:0002410)	1.79867022
69	Polydipsia (HP:0001959)	1.79426565
70	Abnormal drinking behavior (HP:0030082)	1.79426565
71	Rhabdomyosarcoma (HP:0002859)	1.78521929
72	Sloping forehead (HP:0000340)	1.78433494
73	Meckel diverticulum (HP:0002245)	1.78169844
74	Decreased central vision (HP:0007663)	1.77978906
75	Abnormality of the ileum (HP:0001549)	1.77008707
76	Acute encephalopathy (HP:0006846)	1.75511527
77	Progressive inability to walk (HP:0002505)	1.74308363
78	EEG with generalized epileptiform discharges (HP:0011198)	1.73142694
79	Hypsarrhythmia (HP:0002521)	1.72399520
80	Bifid tongue (HP:0010297)	1.71969836
81	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.71544904
82	Horizontal nystagmus (HP:0000666)	1.70249656
83	Narrow forehead (HP:0000341)	1.69967409
84	Renal cortical cysts (HP:0000803)	1.69487747
85	Irregular epiphyses (HP:0010582)	1.68150933
86	Dandy-Walker malformation (HP:0001305)	1.68001767
87	Cystic liver disease (HP:0006706)	1.67878984
88	Postaxial foot polydactyly (HP:0001830)	1.67351133
89	Abnormality of the fovea (HP:0000493)	1.66910510
90	Median cleft lip (HP:0000161)	1.66408009
91	Optic nerve hypoplasia (HP:0000609)	1.65340841
92	Absent septum pellucidum (HP:0001331)	1.64886822
93	Methylmalonic aciduria (HP:0012120)	1.63262234
94	Type 2 muscle fiber atrophy (HP:0003554)	1.63123442
95	Delayed gross motor development (HP:0002194)	1.62998623
96	Epileptiform EEG discharges (HP:0011182)	1.62906062
97	Pancytopenia (HP:0001876)	1.62534091
98	Absent speech (HP:0001344)	1.62425002
99	Breast carcinoma (HP:0003002)	1.62167909
100	Abolished electroretinogram (ERG) (HP:0000550)	1.62140256

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.31173727
2	MAP4K2	3.50606276
3	STK38L	3.12159406
4	WNK3	2.98416851
5	NUAK1	2.93222164
6	TRIM28	2.81278561
7	MUSK	2.56239647
8	ACVR1B	2.46390131
9	EIF2AK3	2.28645283
10	BMPR1B	2.21721610
11	MST4	1.89377529
12	BRSK2	1.88712212
13	FGFR2	1.83803726
14	CASK	1.83312937
15	PLK2	1.80261404
16	MAP3K2	1.66748718
17	PAK3	1.56506910
18	NLK	1.52904840
19	MKNK2	1.47875278
20	EIF2AK1	1.47787770
21	PLK3	1.47713652
22	STK39	1.47037191
23	STK3	1.40278761
24	FER	1.38225010
25	MAPK13	1.32944524
26	TNIK	1.32344188
27	AKT3	1.24751085
28	ERBB3	1.23626824
29	ZAK	1.21828297
30	GRK1	1.19661305
31	WEE1	1.15342979
32	OXSR1	1.15005388
33	PINK1	1.11496419
34	CSNK1G1	1.11009891
35	MAP3K12	1.08360523
36	INSRR	1.00100203
37	SGK2	0.96772028
38	STK16	0.94375022
39	PNCK	0.93287476
40	PLK4	0.90692850
41	PRKCE	0.89750104
42	SIK3	0.89126792
43	MARK3	0.89046430
44	LATS1	0.89044146
45	BCKDK	0.84588804
46	ADRBK2	0.82589999
47	NTRK3	0.82134807
48	PTK2B	0.81123480
49	MAP3K4	0.78016148
50	BUB1	0.75592711
51	FGFR1	0.74694312
52	MKNK1	0.72427612
53	CDC7	0.70352282
54	STK4	0.68373928
55	PDK2	0.67770138
56	CDK3	0.65919025
57	CLK1	0.65347261
58	VRK1	0.62618174
59	BRSK1	0.61910990
60	FLT3	0.61736572
61	CSNK1G2	0.61116112
62	ATM	0.60423875
63	ADRBK1	0.59895260
64	CHEK2	0.58948493
65	PLK1	0.58458418
66	BCR	0.58271052
67	ATR	0.58120421
68	PRKCI	0.57052389
69	STK24	0.56879420
70	STK38	0.55644201
71	SGK3	0.54335000
72	TNK2	0.54092418
73	GSK3A	0.53983053
74	CSNK1G3	0.53696766
75	TGFBR1	0.53215181
76	PRKD3	0.52781477
77	DYRK3	0.52037309
78	CAMK2D	0.51909529
79	VRK2	0.48870849
80	NEK1	0.48167225
81	DAPK2	0.47706170
82	EPHA4	0.47188956
83	PKN1	0.46274181
84	MINK1	0.45668721
85	IKBKB	0.43326801
86	GRK5	0.43320125
87	PIK3CG	0.43234984
88	BRD4	0.42956581
89	TTK	0.41434222
90	CSNK1A1L	0.38207153
91	STK10	0.36659774
92	PRKCG	0.36651524
93	SGK494	0.36491335
94	SGK223	0.36491335
95	EIF2AK2	0.33314033
96	BMPR2	0.33127385
97	CSNK1A1	0.32386037
98	ROCK1	0.32279637
99	PHKG1	0.32178100
100	PHKG2	0.32178100

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.90018072
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.06201190
3	Non-homologous end-joining_Homo sapiens_hsa03450	2.96297523
4	Butanoate metabolism_Homo sapiens_hsa00650	2.63255992
5	Fanconi anemia pathway_Homo sapiens_hsa03460	2.50495775
6	Proteasome_Homo sapiens_hsa03050	2.40489160
7	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.33960168
8	Circadian rhythm_Homo sapiens_hsa04710	2.21531143
9	Phototransduction_Homo sapiens_hsa04744	2.17433577
10	Fatty acid elongation_Homo sapiens_hsa00062	2.16249140
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.12973321
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.10091018
13	Propanoate metabolism_Homo sapiens_hsa00640	2.07059425
14	Tryptophan metabolism_Homo sapiens_hsa00380	1.90218219
15	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.89281246
16	Homologous recombination_Homo sapiens_hsa03440	1.84930813
17	Basal transcription factors_Homo sapiens_hsa03022	1.69387764
18	One carbon pool by folate_Homo sapiens_hsa00670	1.66790868
19	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.60576809
20	RNA polymerase_Homo sapiens_hsa03020	1.59448985
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.50875676
22	Steroid biosynthesis_Homo sapiens_hsa00100	1.49309244
23	Regulation of autophagy_Homo sapiens_hsa04140	1.48377270
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.48135520
25	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.47182155
26	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.37329010
27	RNA degradation_Homo sapiens_hsa03018	1.33559505
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.33031109
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.31841045
30	Glutathione metabolism_Homo sapiens_hsa00480	1.28106826
31	Peroxisome_Homo sapiens_hsa04146	1.27811756
32	Oxidative phosphorylation_Homo sapiens_hsa00190	1.23529356
33	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.20488813
34	Collecting duct acid secretion_Homo sapiens_hsa04966	1.19922140
35	Linoleic acid metabolism_Homo sapiens_hsa00591	1.15748107
36	Caffeine metabolism_Homo sapiens_hsa00232	1.13201447
37	Mismatch repair_Homo sapiens_hsa03430	1.12040478
38	DNA replication_Homo sapiens_hsa03030	1.10921232
39	Ether lipid metabolism_Homo sapiens_hsa00565	1.10508904
40	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.07972303
41	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.07963915
42	Fatty acid metabolism_Homo sapiens_hsa01212	1.05604719
43	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.05187153
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.04935433
45	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.04335329
46	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.01911009
47	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.01365222
48	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.96052015
49	Purine metabolism_Homo sapiens_hsa00230	0.89187646
50	Chemical carcinogenesis_Homo sapiens_hsa05204	0.86723042
51	Base excision repair_Homo sapiens_hsa03410	0.86644914
52	Retinol metabolism_Homo sapiens_hsa00830	0.84783832
53	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.83460816
54	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.83191717
55	Insulin secretion_Homo sapiens_hsa04911	0.81857696
56	Sulfur metabolism_Homo sapiens_hsa00920	0.80603819
57	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.79238620
58	Mineral absorption_Homo sapiens_hsa04978	0.78862698
59	Parkinsons disease_Homo sapiens_hsa05012	0.75746673
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.74827212
61	Lysine degradation_Homo sapiens_hsa00310	0.74441592
62	Fatty acid degradation_Homo sapiens_hsa00071	0.73571805
63	Metabolic pathways_Homo sapiens_hsa01100	0.73250742
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.72604086
65	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.72131701
66	Nucleotide excision repair_Homo sapiens_hsa03420	0.71050410
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.70493059
68	Sphingolipid metabolism_Homo sapiens_hsa00600	0.70016560
69	beta-Alanine metabolism_Homo sapiens_hsa00410	0.69240130
70	Oocyte meiosis_Homo sapiens_hsa04114	0.68822562
71	Pyrimidine metabolism_Homo sapiens_hsa00240	0.67796553
72	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.67392229
73	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.66015415
74	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.65351823
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.64726785
76	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.64383715
77	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.62572191
78	Huntingtons disease_Homo sapiens_hsa05016	0.58306155
79	RNA transport_Homo sapiens_hsa03013	0.57634492
80	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.56371859
81	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.55574761
82	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.53933573
83	Olfactory transduction_Homo sapiens_hsa04740	0.53886338
84	p53 signaling pathway_Homo sapiens_hsa04115	0.53738114
85	Cell cycle_Homo sapiens_hsa04110	0.48355337
86	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.48283013
87	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.43518061
88	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.43171208
89	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.43050515
90	Taste transduction_Homo sapiens_hsa04742	0.42729656
91	ABC transporters_Homo sapiens_hsa02010	0.39254559
92	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.37976706
93	Fat digestion and absorption_Homo sapiens_hsa04975	0.37710582
94	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.35764165
95	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.35265025
96	Glycerolipid metabolism_Homo sapiens_hsa00561	0.33172811
97	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.33003136
98	Nicotine addiction_Homo sapiens_hsa05033	0.32738119
99	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.32297268
100	Tyrosine metabolism_Homo sapiens_hsa00350	0.30953348

ATP5F1P1

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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