ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	detection of light stimulus involved in visual perception (GO:0050908)	6.85148376
2	detection of light stimulus involved in sensory perception (GO:0050962)	6.85148376
3	regulation of synapse structural plasticity (GO:0051823)	6.45025756
4	regulation of skeletal muscle contraction (GO:0014819)	6.25029582
5	negative regulation of cell aging (GO:0090344)	6.08112384
6	cellular response to ATP (GO:0071318)	5.96213798
7	mitotic cell cycle arrest (GO:0071850)	5.69819424
8	behavioral response to nicotine (GO:0035095)	5.67746808
9	transepithelial transport (GO:0070633)	5.32447484
10	meiotic chromosome segregation (GO:0045132)	5.12043870
11	estrogen biosynthetic process (GO:0006703)	4.99026261
12	DNA strand renaturation (GO:0000733)	4.54914778
13	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.47273266
14	cilium or flagellum-dependent cell motility (GO:0001539)	4.30016210
15	protein carboxylation (GO:0018214)	4.20818592
16	peptidyl-glutamic acid carboxylation (GO:0017187)	4.20818592
17	piRNA metabolic process (GO:0034587)	4.05801259
18	purinergic nucleotide receptor signaling pathway (GO:0035590)	3.89239401
19	ubiquinone biosynthetic process (GO:0006744)	3.89096607
20	sperm motility (GO:0030317)	3.79038700
21	lens fiber cell differentiation (GO:0070306)	3.78085451
22	cornea development in camera-type eye (GO:0061303)	3.78037241
23	response to pheromone (GO:0019236)	3.68018580
24	positive regulation of heat generation (GO:0031652)	3.64995114
25	GDP-mannose metabolic process (GO:0019673)	3.60622687
26	ubiquinone metabolic process (GO:0006743)	3.58690305
27	quinone biosynthetic process (GO:1901663)	3.54673594
28	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.54135076
29	inositol phosphate dephosphorylation (GO:0046855)	3.54135076
30	axoneme assembly (GO:0035082)	3.52097092
31	multicellular organism reproduction (GO:0032504)	3.47742453
32	inositol phosphate catabolic process (GO:0071545)	3.41656477
33	negative regulation of mast cell activation (GO:0033004)	3.35710085
34	regulation of heat generation (GO:0031650)	3.32675069
35	spermatid development (GO:0007286)	3.32302776
36	positive regulation of triglyceride biosynthetic process (GO:0010867)	3.30026177
37	phosphatidylglycerol biosynthetic process (GO:0006655)	3.25724286
38	mannosylation (GO:0097502)	3.21553003
39	iron-sulfur cluster assembly (GO:0016226)	3.19198730
40	metallo-sulfur cluster assembly (GO:0031163)	3.19198730
41	respiratory chain complex IV assembly (GO:0008535)	3.17629321
42	regulation of guanylate cyclase activity (GO:0031282)	3.16209783
43	epithelial cilium movement (GO:0003351)	3.15742613
44	peptidyl-glutamic acid modification (GO:0018200)	3.13880982
45	heme transport (GO:0015886)	3.10848583
46	acrosome reaction (GO:0007340)	3.10589029
47	fucose catabolic process (GO:0019317)	3.06598722
48	L-fucose metabolic process (GO:0042354)	3.06598722
49	L-fucose catabolic process (GO:0042355)	3.06598722
50	photoreceptor cell development (GO:0042461)	3.06545832
51	platelet dense granule organization (GO:0060155)	3.05323878
52	G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)	3.05290193
53	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.04924306
54	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.03924711
55	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.03484508
56	regulation of phospholipid biosynthetic process (GO:0071071)	2.96572188
57	cytochrome complex assembly (GO:0017004)	2.94685708
58	positive regulation of guanylate cyclase activity (GO:0031284)	2.93501047
59	phosphatidylethanolamine metabolic process (GO:0046337)	2.92161808
60	indolalkylamine metabolic process (GO:0006586)	2.91706414
61	synaptic transmission, cholinergic (GO:0007271)	2.91247850
62	spinal cord motor neuron differentiation (GO:0021522)	2.91130420
63	eye photoreceptor cell development (GO:0042462)	2.89953018
64	reciprocal DNA recombination (GO:0035825)	2.88857017
65	reciprocal meiotic recombination (GO:0007131)	2.88857017
66	negative regulation of telomere maintenance (GO:0032205)	2.88407992
67	DNA methylation involved in gamete generation (GO:0043046)	2.87781769
68	base-excision repair, AP site formation (GO:0006285)	2.86214282
69	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.85428446
70	response to misfolded protein (GO:0051788)	2.85098809
71	DNA deamination (GO:0045006)	2.84467291
72	sensory perception of taste (GO:0050909)	2.80750675
73	polyol catabolic process (GO:0046174)	2.77662106
74	urinary tract smooth muscle contraction (GO:0014848)	2.76841831
75	response to ATP (GO:0033198)	2.76749079
76	seminiferous tubule development (GO:0072520)	2.76507132
77	preassembly of GPI anchor in ER membrane (GO:0016254)	2.74545547
78	cellular ketone body metabolic process (GO:0046950)	2.73824468
79	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.72026381
80	regulation of action potential (GO:0098900)	2.71243802
81	peristalsis (GO:0030432)	2.70552724
82	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	2.70297776
83	peptidyl-histidine modification (GO:0018202)	2.70183922
84	iron coordination entity transport (GO:1901678)	2.69682314
85	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.69605171
86	sulfur amino acid catabolic process (GO:0000098)	2.69109689
87	adenosine receptor signaling pathway (GO:0001973)	2.67623746
88	ketone biosynthetic process (GO:0042181)	2.66191776
89	cilium movement (GO:0003341)	2.66137092
90	rRNA methylation (GO:0031167)	2.65752181
91	auditory receptor cell stereocilium organization (GO:0060088)	2.63775071
92	nephron tubule morphogenesis (GO:0072078)	2.62470538
93	nephron epithelium morphogenesis (GO:0072088)	2.62470538
94	cilium morphogenesis (GO:0060271)	2.58869497
95	ketone body metabolic process (GO:1902224)	2.58225277
96	protein K11-linked ubiquitination (GO:0070979)	2.55520231
97	NAD biosynthetic process (GO:0009435)	2.54768906
98	visual perception (GO:0007601)	2.54426171
99	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.53449833
100	trivalent inorganic anion homeostasis (GO:0072506)	2.51638663

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.01130881
2	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.63386260
3	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.51605072
4	ZNF274_21170338_ChIP-Seq_K562_Hela	2.32770876
5	E2F1_20622854_ChIP-Seq_HELA_Human	2.32404997
6	P68_20966046_ChIP-Seq_HELA_Human	2.28104172
7	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	2.11118873
8	ERA_21632823_ChIP-Seq_H3396_Human	2.10980271
9	NANOG_20526341_ChIP-Seq_ESCs_Human	2.08374052
10	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.02220109
11	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.96790435
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.96124331
13	BCL6_27268052_Chip-Seq_Bcells_Human	1.95964479
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.95646592
15	EWS_26573619_Chip-Seq_HEK293_Human	1.94297484
16	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.94197403
17	CTCF_20526341_ChIP-Seq_ESCs_Human	1.93916320
18	FUS_26573619_Chip-Seq_HEK293_Human	1.93339079
19	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.92461691
20	BCOR_27268052_Chip-Seq_Bcells_Human	1.88971919
21	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.88780844
22	PHF8_20622854_ChIP-Seq_HELA_Human	1.88707879
23	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.88429789
24	TP53_22573176_ChIP-Seq_HFKS_Human	1.86728112
25	CTCF_27219007_Chip-Seq_Bcells_Human	1.83176609
26	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.81231309
27	P53_21459846_ChIP-Seq_SAOS-2_Human	1.77530733
28	VDR_22108803_ChIP-Seq_LS180_Human	1.77396123
29	TAF2_19829295_ChIP-Seq_ESCs_Human	1.75807071
30	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.75208419
31	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.68894752
32	EZH2_22144423_ChIP-Seq_EOC_Human	1.64128728
33	OCT4_20526341_ChIP-Seq_ESCs_Human	1.63675572
34	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.63177171
35	MYC_19829295_ChIP-Seq_ESCs_Human	1.62868431
36	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.61347176
37	TAF15_26573619_Chip-Seq_HEK293_Human	1.56812302
38	GBX2_23144817_ChIP-Seq_PC3_Human	1.56208805
39	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.56082796
40	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.55790762
41	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.51401614
42	XRN2_22483619_ChIP-Seq_HELA_Human	1.49903658
43	RXRA_24833708_ChIP-Seq_LIVER_Mouse	1.49573108
44	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.48451259
45	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.47469079
46	RAC3_21632823_ChIP-Seq_H3396_Human	1.47388665
47	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.47328380
48	NCOR_22424771_ChIP-Seq_293T_Human	1.44219656
49	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.43753344
50	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.41640908
51	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.37746934
52	VDR_21846776_ChIP-Seq_THP-1_Human	1.36100716
53	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.33866012
54	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.33143326
55	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.32817926
56	DROSHA_22980978_ChIP-Seq_HELA_Human	1.31806891
57	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.29002342
58	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.28811561
59	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.25137337
60	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.25062178
61	SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.24669094
62	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.24491015
63	VDR_23849224_ChIP-Seq_CD4+_Human	1.23686117
64	REST_21632747_ChIP-Seq_MESCs_Mouse	1.22799842
65	P300_27268052_Chip-Seq_Bcells_Human	1.22601878
66	MAF_26560356_Chip-Seq_TH2_Human	1.20438486
67	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.18365695
68	CTCF_21964334_Chip-Seq_Bcells_Human	1.15974646
69	AR_21572438_ChIP-Seq_LNCaP_Human	1.15426536
70	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.14298242
71	ER_23166858_ChIP-Seq_MCF-7_Human	1.13403323
72	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.12711194
73	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.12082258
74	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.10785413
75	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08499396
76	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.07901801
77	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.07124305
78	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.06646664
79	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.06031416
80	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	1.05974506
81	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.05939616
82	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.05055740
83	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.04701073
84	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.04582157
85	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.03721156
86	SMC4_20622854_ChIP-Seq_HELA_Human	1.03559866
87	SOX2_21211035_ChIP-Seq_LN229_Human	1.03509384
88	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.03227603
89	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.02493880
90	ERG_20517297_ChIP-Seq_VCAP_Human	1.02465669
91	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.02235370
92	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.01538148
93	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.00459497
94	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.00451691
95	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.00387369
96	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.99193395
97	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.97620547
98	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.97002331
99	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.96590037
100	GABP_19822575_ChIP-Seq_HepG2_Human	0.96307397

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005171_absent_coat_pigmentation	5.49056404
2	MP0001986_abnormal_taste_sensitivity	4.13514719
3	MP0005174_abnormal_tail_pigmentation	3.94680470
4	MP0003136_yellow_coat_color	3.47969020
5	MP0008875_abnormal_xenobiotic_pharmacok	3.42766128
6	MP0005423_abnormal_somatic_nervous	3.17682063
7	MP0002160_abnormal_reproductive_system	2.90014922
8	MP0005551_abnormal_eye_electrophysiolog	2.87316097
9	MP0001968_abnormal_touch/_nociception	2.80012871
10	MP0005410_abnormal_fertilization	2.67405452
11	MP0005083_abnormal_biliary_tract	2.66198837
12	MP0002638_abnormal_pupillary_reflex	2.64436378
13	MP0002736_abnormal_nociception_after	2.34583700
14	MP0002653_abnormal_ependyma_morphology	2.31410468
15	MP0004147_increased_porphyrin_level	2.31171584
16	MP0001661_extended_life_span	2.26833737
17	MP0005253_abnormal_eye_physiology	2.06732982
18	MP0005377_hearing/vestibular/ear_phenot	2.02692023
19	MP0003878_abnormal_ear_physiology	2.02692023
20	MP0008057_abnormal_DNA_replication	2.01557061
21	MP0001502_abnormal_circadian_rhythm	1.96400113
22	MP0001919_abnormal_reproductive_system	1.87204110
23	MP0001756_abnormal_urination	1.84556756
24	MP0003880_abnormal_central_pattern	1.72198842
25	MP0005389_reproductive_system_phenotype	1.71461709
26	MP0003646_muscle_fatigue	1.66537306
27	MP0000751_myopathy	1.56605947
28	MP0001188_hyperpigmentation	1.55761577
29	MP0003011_delayed_dark_adaptation	1.54145487
30	MP0002735_abnormal_chemical_nociception	1.53317511
31	MP0002102_abnormal_ear_morphology	1.51735565
32	MP0005084_abnormal_gallbladder_morpholo	1.48761871
33	MP0004130_abnormal_muscle_cell	1.48280642
34	MP0000538_abnormal_urinary_bladder	1.43467399
35	MP0003195_calcinosis	1.43333818
36	MP0001324_abnormal_eye_pigmentation	1.36041535
37	MP0001486_abnormal_startle_reflex	1.32890217
38	MP0006072_abnormal_retinal_apoptosis	1.26192805
39	MP0005332_abnormal_amino_acid	1.25948337
40	MP0002254_reproductive_system_inflammat	1.25045198
41	MP0006276_abnormal_autonomic_nervous	1.22570947
42	MP0008877_abnormal_DNA_methylation	1.22296403
43	MP0003698_abnormal_male_reproductive	1.18712149
44	MP0008872_abnormal_physiological_respon	1.15729348
45	MP0005330_cardiomyopathy	1.14444616
46	MP0000470_abnormal_stomach_morphology	1.14356118
47	MP0009046_muscle_twitch	1.14033023
48	MP0000015_abnormal_ear_pigmentation	1.13938341
49	MP0005365_abnormal_bile_salt	1.13899339
50	MP0001929_abnormal_gametogenesis	1.12925951
51	MP0004142_abnormal_muscle_tone	1.12285460
52	MP0004885_abnormal_endolymph	1.10980029
53	MP0001970_abnormal_pain_threshold	1.09734112
54	MP0003137_abnormal_impulse_conducting	1.08201518
55	MP0002928_abnormal_bile_duct	1.07763655
56	MP0002837_dystrophic_cardiac_calcinosis	1.07376386
57	MP0002876_abnormal_thyroid_physiology	1.06095413
58	MP0001765_abnormal_ion_homeostasis	1.05861992
59	MP0002210_abnormal_sex_determination	1.03498163
60	MP0001905_abnormal_dopamine_level	1.03179584
61	MP0009745_abnormal_behavioral_response	1.02249446
62	MP0005195_abnormal_posterior_eye	1.01769014
63	MP0009840_abnormal_foam_cell	1.01361594
64	MP0004215_abnormal_myocardial_fiber	1.01155431
65	MP0004019_abnormal_vitamin_homeostasis	1.00324331
66	MP0002938_white_spotting	0.98216219
67	MP0009278_abnormal_bone_marrow	0.98193941
68	MP0002095_abnormal_skin_pigmentation	0.91951706
69	MP0000750_abnormal_muscle_regeneration	0.91485507
70	MP0002909_abnormal_adrenal_gland	0.91468111
71	MP0001664_abnormal_digestion	0.90972801
72	MP0003718_maternal_effect	0.90965369
73	MP0005646_abnormal_pituitary_gland	0.86354836
74	MP0002572_abnormal_emotion/affect_behav	0.82910178
75	MP0009643_abnormal_urine_homeostasis	0.82401610
76	MP0000026_abnormal_inner_ear	0.81991973
77	MP0001963_abnormal_hearing_physiology	0.81670446
78	MP0002272_abnormal_nervous_system	0.81282226
79	MP0000013_abnormal_adipose_tissue	0.77659206
80	MP0002063_abnormal_learning/memory/cond	0.76083994
81	MP0004043_abnormal_pH_regulation	0.75605391
82	MP0000631_abnormal_neuroendocrine_gland	0.74664231
83	MP0005220_abnormal_exocrine_pancreas	0.73098485
84	MP0002557_abnormal_social/conspecific_i	0.72247047
85	MP0001485_abnormal_pinna_reflex	0.72172446
86	MP0000358_abnormal_cell_content/	0.71443069
87	MP0006292_abnormal_olfactory_placode	0.70841714
88	MP0005391_vision/eye_phenotype	0.68197894
89	MP0001529_abnormal_vocalization	0.67696577
90	MP0003635_abnormal_synaptic_transmissio	0.66906557
91	MP0003119_abnormal_digestive_system	0.66642051
92	MP0001145_abnormal_male_reproductive	0.66588262
93	MP0000653_abnormal_sex_gland	0.66539998
94	MP0010386_abnormal_urinary_bladder	0.65919203
95	MP0002064_seizures	0.65667951
96	MP0000427_abnormal_hair_cycle	0.65077256
97	MP0002733_abnormal_thermal_nociception	0.64849494
98	MP0003806_abnormal_nucleotide_metabolis	0.63522448
99	MP0008058_abnormal_DNA_repair	0.60801416
100	MP0002067_abnormal_sensory_capabilities	0.59252143

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Attenuation of retinal blood vessels (HP:0007843)	6.02524098
2	Mesangial abnormality (HP:0001966)	5.94465490
3	Rib fusion (HP:0000902)	5.59818696
4	Dyschromatopsia (HP:0007641)	5.20371344
5	Increased hepatocellular lipid droplets (HP:0006565)	4.56790101
6	Congenital stationary night blindness (HP:0007642)	4.37329029
7	Lipid accumulation in hepatocytes (HP:0006561)	4.33432550
8	Testicular atrophy (HP:0000029)	4.32459216
9	Renal Fanconi syndrome (HP:0001994)	4.26016294
10	Decreased central vision (HP:0007663)	3.98715284
11	Bony spicule pigmentary retinopathy (HP:0007737)	3.78857185
12	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.73363292
13	Hypoalbuminemia (HP:0003073)	3.51796329
14	Abnormal albumin level (HP:0012116)	3.51796329
15	Facial diplegia (HP:0001349)	3.44906731
16	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.43635106
17	Choroideremia (HP:0001139)	3.41740205
18	Rectovaginal fistula (HP:0000143)	3.24575230
19	Rectal fistula (HP:0100590)	3.24575230
20	Chorioretinal atrophy (HP:0000533)	3.23562494
21	Chronic hepatic failure (HP:0100626)	3.22481614
22	Prolonged partial thromboplastin time (HP:0003645)	3.20767535
23	Exertional dyspnea (HP:0002875)	3.16263806
24	Facial hemangioma (HP:0000329)	3.09031305
25	Increased intramyocellular lipid droplets (HP:0012240)	3.06103613
26	Molar tooth sign on MRI (HP:0002419)	3.05047012
27	Abnormality of midbrain morphology (HP:0002418)	3.05047012
28	Popliteal pterygium (HP:0009756)	3.02868448
29	Pancreatic cysts (HP:0001737)	2.98685890
30	Akinesia (HP:0002304)	2.98272148
31	Pendular nystagmus (HP:0012043)	2.97593906
32	Abnormality of the intrinsic pathway (HP:0010989)	2.95019147
33	Pancreatic fibrosis (HP:0100732)	2.89576179
34	Patellar aplasia (HP:0006443)	2.88502242
35	True hermaphroditism (HP:0010459)	2.85961836
36	Joint hemorrhage (HP:0005261)	2.84850727
37	Neonatal respiratory distress (HP:0002643)	2.83393795
38	Poikiloderma (HP:0001029)	2.79291007
39	Abnormality of renal resorption (HP:0011038)	2.77293450
40	Abnormal drinking behavior (HP:0030082)	2.75267444
41	Polydipsia (HP:0001959)	2.75267444
42	Aplasia/Hypoplasia of the patella (HP:0006498)	2.74659519
43	Increased muscle lipid content (HP:0009058)	2.71816303
44	Fetal akinesia sequence (HP:0001989)	2.69734186
45	Vaginal fistula (HP:0004320)	2.68886192
46	Intestinal fistula (HP:0100819)	2.66063397
47	Glycosuria (HP:0003076)	2.65090205
48	Abnormality of urine glucose concentration (HP:0011016)	2.65090205
49	Decreased circulating renin level (HP:0003351)	2.50642998
50	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.46565383
51	Type II lissencephaly (HP:0007260)	2.46556072
52	Aplasia of the musculature (HP:0100854)	2.45776062
53	Nephronophthisis (HP:0000090)	2.45335225
54	Annular pancreas (HP:0001734)	2.38040309
55	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.37919214
56	Squamous cell carcinoma (HP:0002860)	2.36637111
57	Absent thumb (HP:0009777)	2.33984948
58	Hemorrhage of the eye (HP:0011885)	2.33613276
59	Hyperalaninemia (HP:0003348)	2.32031310
60	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.32031310
61	Abnormality of alanine metabolism (HP:0010916)	2.32031310
62	Tubular atrophy (HP:0000092)	2.30947867
63	Respiratory difficulties (HP:0002880)	2.29811492
64	Myotonia (HP:0002486)	2.25307310
65	Coronal craniosynostosis (HP:0004440)	2.24254129
66	Abnormal urine phosphate concentration (HP:0012599)	2.20859889
67	Polyuria (HP:0000103)	2.20653837
68	Amniotic constriction ring (HP:0009775)	2.20089643
69	Abnormality of placental membranes (HP:0011409)	2.20089643
70	Macular degeneration (HP:0000608)	2.17047487
71	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.09881736
72	Hypoplasia of the pons (HP:0012110)	2.08490901
73	Abnormality of the neuromuscular junction (HP:0003398)	2.08390657
74	Fatigable weakness (HP:0003473)	2.08390657
75	Abolished electroretinogram (ERG) (HP:0000550)	2.07524498
76	Abnormality of the pons (HP:0007361)	2.05880850
77	Hyperphosphaturia (HP:0003109)	2.03287725
78	Abnormality of the costochondral junction (HP:0000919)	2.01564137
79	Hypophosphatemic rickets (HP:0004912)	2.01191886
80	Abnormality of the renal medulla (HP:0100957)	1.99673051
81	Abnormal rod and cone electroretinograms (HP:0008323)	1.99279733
82	Optic disc pallor (HP:0000543)	1.98787415
83	Atrioventricular block (HP:0001678)	1.97753091
84	Zonular cataract (HP:0010920)	1.96204414
85	Neonatal onset (HP:0003623)	1.96184002
86	Enlarged epiphyses (HP:0010580)	1.95533763
87	Birth length less than 3rd percentile (HP:0003561)	1.94292688
88	Congenital hepatic fibrosis (HP:0002612)	1.93841859
89	Thin bony cortex (HP:0002753)	1.93769041
90	Mitochondrial inheritance (HP:0001427)	1.93617626
91	Cystic liver disease (HP:0006706)	1.93513862
92	Abnormal urine output (HP:0012590)	1.92749990
93	Increased CSF lactate (HP:0002490)	1.92637532
94	Cerebellar dysplasia (HP:0007033)	1.91051225
95	Delayed epiphyseal ossification (HP:0002663)	1.89369578
96	Ulnar bowing (HP:0003031)	1.84349829
97	Severe muscular hypotonia (HP:0006829)	1.82827815
98	Type 2 muscle fiber atrophy (HP:0003554)	1.82051640
99	Medial flaring of the eyebrow (HP:0010747)	1.81089499
100	Dyskinesia (HP:0100660)	1.77094414

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	7.03775142
2	MUSK	6.78736733
3	WNK4	3.59934365
4	FRK	3.38326040
5	ADRBK2	2.94866279
6	INSRR	2.49797701
7	ZAK	2.19942140
8	TLK1	2.08831940
9	TRIM28	2.05191126
10	WNK3	1.95978682
11	GRK1	1.89244128
12	BMPR1B	1.78259753
13	ACVR1B	1.63124808
14	MAP4K2	1.52705544
15	NUAK1	1.52426476
16	ADRBK1	1.45290089
17	TXK	1.29053717
18	SIK2	1.25191492
19	DAPK2	1.25074799
20	MAPK13	1.24291588
21	OXSR1	1.22509476
22	PINK1	1.21001882
23	STK39	1.16172940
24	CAMKK2	1.08972309
25	PLK4	1.08698326
26	STK16	1.06196990
27	BLK	0.96658449
28	PTK2B	0.94893356
29	NEK2	0.94679232
30	CCNB1	0.88906591
31	PRKCG	0.86665134
32	PNCK	0.85137515
33	TAOK3	0.77603498
34	RPS6KA5	0.73394180
35	EPHA4	0.71852532
36	PDK2	0.71068787
37	NME1	0.69019365
38	VRK2	0.68971429
39	PAK3	0.64802112
40	BCKDK	0.64728059
41	CAMK1G	0.64312751
42	LATS1	0.63622970
43	CHEK2	0.63552006
44	PLK1	0.63405559
45	STK11	0.63122466
46	MAPKAPK3	0.61103897
47	MKNK2	0.57135806
48	MAP2K6	0.56809200
49	MARK1	0.56209684
50	SYK	0.55740462
51	PLK2	0.55327516
52	PRKD3	0.53721180
53	TIE1	0.53599431
54	PRKACA	0.53158551
55	CAMK1D	0.52982141
56	DYRK1B	0.52039963
57	STK38L	0.51706339
58	BRSK2	0.48557502
59	CAMK1	0.48142579
60	PRKCE	0.47348398
61	PRKAA1	0.47317230
62	CDK19	0.46289736
63	IKBKB	0.46273674
64	VRK1	0.45900542
65	RPS6KA6	0.45814410
66	BTK	0.44862196
67	RPS6KA2	0.44408165
68	CSNK1D	0.44177333
69	TGFBR1	0.43438837
70	CSNK1G2	0.43218089
71	CSNK1G1	0.43013041
72	STK3	0.41973954
73	PRKCA	0.41910804
74	DYRK2	0.41417055
75	MAP3K4	0.40556350
76	IRAK2	0.39951622
77	CDK11A	0.39671503
78	PDPK1	0.39403222
79	CDK18	0.38908892
80	PRKAA2	0.38780918
81	CSNK1G3	0.38762140
82	CDK15	0.38239832
83	CSK	0.38162483
84	KDR	0.37950876
85	PHKG2	0.37293036
86	PHKG1	0.37293036
87	WNK1	0.36727214
88	MAP4K1	0.36585313
89	CAMK2A	0.35910049
90	PRKCZ	0.35742608
91	AURKA	0.35637506
92	EPHB2	0.34409007
93	PKN1	0.33600296
94	PRKCQ	0.30787087
95	PAK1	0.30633850
96	LYN	0.30573372
97	ROCK1	0.30220832
98	NTRK3	0.30055096
99	CDK5	0.29505530
100	MAPK8	0.27652176

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	6.39238482
2	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	4.00128538
3	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.91128880
4	Sulfur relay system_Homo sapiens_hsa04122	3.25867549
5	Phototransduction_Homo sapiens_hsa04744	2.71389289
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.48633419
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.26447391
8	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.19300482
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.10389429
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.04703367
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.94974099
12	Basal transcription factors_Homo sapiens_hsa03022	1.86873962
13	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.86344422
14	Linoleic acid metabolism_Homo sapiens_hsa00591	1.78509547
15	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.69684620
16	Butanoate metabolism_Homo sapiens_hsa00650	1.58714608
17	Nicotine addiction_Homo sapiens_hsa05033	1.56654140
18	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.56344458
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.50458885
20	Homologous recombination_Homo sapiens_hsa03440	1.41790926
21	Taste transduction_Homo sapiens_hsa04742	1.41536358
22	Selenocompound metabolism_Homo sapiens_hsa00450	1.38486145
23	Oxidative phosphorylation_Homo sapiens_hsa00190	1.37753056
24	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.33335283
25	Chemical carcinogenesis_Homo sapiens_hsa05204	1.33067910
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.31452287
27	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.30579282
28	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.26232843
29	Circadian rhythm_Homo sapiens_hsa04710	1.24892953
30	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.22557995
31	Sphingolipid metabolism_Homo sapiens_hsa00600	1.21665488
32	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.21469261
33	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.20292704
34	RNA polymerase_Homo sapiens_hsa03020	1.20100574
35	Sulfur metabolism_Homo sapiens_hsa00920	1.14807330
36	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.09374587
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.02949028
38	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.00300133
39	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.92993329
40	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.92187878
41	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.90189878
42	Parkinsons disease_Homo sapiens_hsa05012	0.88309955
43	Morphine addiction_Homo sapiens_hsa05032	0.86269918
44	Huntingtons disease_Homo sapiens_hsa05016	0.85688174
45	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.83873992
46	ABC transporters_Homo sapiens_hsa02010	0.79801441
47	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.79179717
48	Regulation of autophagy_Homo sapiens_hsa04140	0.77795657
49	Olfactory transduction_Homo sapiens_hsa04740	0.74844240
50	Cardiac muscle contraction_Homo sapiens_hsa04260	0.74069883
51	Glycerolipid metabolism_Homo sapiens_hsa00561	0.70721178
52	Fat digestion and absorption_Homo sapiens_hsa04975	0.70487984
53	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.70373461
54	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.69853357
55	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.69140525
56	Retinol metabolism_Homo sapiens_hsa00830	0.68163830
57	Primary immunodeficiency_Homo sapiens_hsa05340	0.66394320
58	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.65696290
59	Metabolic pathways_Homo sapiens_hsa01100	0.63888281
60	Calcium signaling pathway_Homo sapiens_hsa04020	0.62722863
61	Basal cell carcinoma_Homo sapiens_hsa05217	0.62564311
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.61954704
63	One carbon pool by folate_Homo sapiens_hsa00670	0.60354627
64	Caffeine metabolism_Homo sapiens_hsa00232	0.59508392
65	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.57197835
66	Fatty acid degradation_Homo sapiens_hsa00071	0.55351702
67	Purine metabolism_Homo sapiens_hsa00230	0.54761345
68	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.54273514
69	RNA degradation_Homo sapiens_hsa03018	0.53364646
70	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.53023538
71	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.52154661
72	Protein export_Homo sapiens_hsa03060	0.51691608
73	Cocaine addiction_Homo sapiens_hsa05030	0.48967978
74	Circadian entrainment_Homo sapiens_hsa04713	0.48806474
75	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.47510448
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.46244483
77	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.43948078
78	Peroxisome_Homo sapiens_hsa04146	0.43286820
79	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.42498329
80	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.41925470
81	Mineral absorption_Homo sapiens_hsa04978	0.41760798
82	Pyruvate metabolism_Homo sapiens_hsa00620	0.41116711
83	Pyrimidine metabolism_Homo sapiens_hsa00240	0.40095410
84	Insulin secretion_Homo sapiens_hsa04911	0.39636637
85	Alzheimers disease_Homo sapiens_hsa05010	0.39156272
86	Steroid biosynthesis_Homo sapiens_hsa00100	0.38408649
87	Non-homologous end-joining_Homo sapiens_hsa03450	0.38143160
88	Glutathione metabolism_Homo sapiens_hsa00480	0.37477626
89	GABAergic synapse_Homo sapiens_hsa04727	0.35671454
90	Histidine metabolism_Homo sapiens_hsa00340	0.34309181
91	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.33240135
92	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.32862161
93	Base excision repair_Homo sapiens_hsa03410	0.31281729
94	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.30810433
95	cAMP signaling pathway_Homo sapiens_hsa04024	0.28301400
96	Hippo signaling pathway_Homo sapiens_hsa04390	0.28289202
97	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28172857
98	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.27862470
99	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.27678676
100	Lysosome_Homo sapiens_hsa04142	0.27563092

ACTBP13

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

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