ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cytoplasmic mRNA processing body assembly (GO:0033962)	8.84896107
2	tricarboxylic acid cycle (GO:0006099)	8.81154887
3	peptidyl-arginine methylation (GO:0018216)	8.80537492
4	peptidyl-arginine N-methylation (GO:0035246)	8.80537492
5	positive regulation of mitochondrial fission (GO:0090141)	8.62240925
6	histone arginine methylation (GO:0034969)	7.87320825
7	nerve growth factor signaling pathway (GO:0038180)	7.34029667
8	regulation of mitochondrial depolarization (GO:0051900)	7.21402498
9	glomerular visceral epithelial cell development (GO:0072015)	7.05825091
10	male sex determination (GO:0030238)	6.99079742
11	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	6.69537989
12	pyrimidine nucleotide catabolic process (GO:0006244)	6.67143703
13	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	6.65895250
14	positive regulation of B cell differentiation (GO:0045579)	6.65129239
15	regulation of mitochondrial fission (GO:0090140)	6.63024940
16	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO	6.57078591
17	mitotic cell cycle arrest (GO:0071850)	6.39658239
18	glomerular epithelial cell development (GO:0072310)	6.21145688
19	negative regulation of activin receptor signaling pathway (GO:0032926)	6.02184969
20	protein K6-linked ubiquitination (GO:0085020)	5.98854649
21	daunorubicin metabolic process (GO:0044597)	5.78148221
22	polyketide metabolic process (GO:0030638)	5.78148221
23	doxorubicin metabolic process (GO:0044598)	5.78148221
24	negative regulation of cell aging (GO:0090344)	5.76009643
25	base-excision repair, AP site formation (GO:0006285)	5.63143339
26	peptidyl-arginine modification (GO:0018195)	5.59207141
27	positive regulation of protein homooligomerization (GO:0032464)	5.52832158
28	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	5.47290764
29	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	5.47290764
30	regulation of glycogen (starch) synthase activity (GO:2000465)	5.34082700
31	regulation of protein homooligomerization (GO:0032462)	5.25592635
32	positive regulation of growth hormone secretion (GO:0060124)	5.12717574
33	aminoglycoside antibiotic metabolic process (GO:0030647)	5.11484100
34	muscle organ morphogenesis (GO:0048644)	5.00744031
35	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	4.90705281
36	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	4.90705281
37	spermatid development (GO:0007286)	4.78923193
38	lung-associated mesenchyme development (GO:0060484)	4.56403664
39	positive regulation of mRNA 3-end processing (GO:0031442)	4.44635802
40	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	4.39697899
41	meiosis I (GO:0007127)	4.23822298
42	cellular response to nerve growth factor stimulus (GO:1990090)	4.19310983
43	response to nerve growth factor (GO:1990089)	4.19310983
44	negative regulation of epidermal cell differentiation (GO:0045605)	4.14131564
45	peristalsis (GO:0030432)	4.10262346
46	regulation of mRNA 3-end processing (GO:0031440)	4.03828894
47	sulfation (GO:0051923)	3.93793905
48	reciprocal meiotic recombination (GO:0007131)	3.92061838
49	reciprocal DNA recombination (GO:0035825)	3.92061838
50	regulation of timing of cell differentiation (GO:0048505)	3.91189682
51	deoxyribonucleotide catabolic process (GO:0009264)	3.86847416
52	neuronal action potential (GO:0019228)	3.86215538
53	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.83175407
54	positive regulation of mRNA catabolic process (GO:0061014)	3.82166010
55	regulation of cell aging (GO:0090342)	3.76389171
56	sex determination (GO:0007530)	3.75493105
57	positive regulation of protein oligomerization (GO:0032461)	3.61723657
58	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.58078770
59	SMAD protein signal transduction (GO:0060395)	3.57740125
60	fibroblast migration (GO:0010761)	3.57374278
61	regulation of membrane depolarization (GO:0003254)	3.57244172
62	deoxyribose phosphate catabolic process (GO:0046386)	3.55343418
63	positive regulation of phosphatase activity (GO:0010922)	3.48120796
64	non-recombinational repair (GO:0000726)	3.38932635
65	double-strand break repair via nonhomologous end joining (GO:0006303)	3.38932635
66	regulation of development, heterochronic (GO:0040034)	3.33502650
67	regulation of protein oligomerization (GO:0032459)	3.31403430
68	primary alcohol catabolic process (GO:0034310)	3.29398859
69	regulation of mRNA catabolic process (GO:0061013)	3.28829062
70	regulation of growth hormone secretion (GO:0060123)	3.25015840
71	negative regulation of protein oligomerization (GO:0032460)	3.19626586
72	auditory receptor cell stereocilium organization (GO:0060088)	3.18706016
73	negative regulation of epidermis development (GO:0045683)	3.16169060
74	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.15124679
75	ER overload response (GO:0006983)	3.14381685
76	positive regulation of p38MAPK cascade (GO:1900745)	3.13727909
77	embryonic digestive tract development (GO:0048566)	3.12138865
78	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.10475704
79	regulation of B cell differentiation (GO:0045577)	3.03479262
80	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.00733011
81	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.00733011
82	response to redox state (GO:0051775)	2.99163007
83	B cell homeostasis (GO:0001782)	2.98953792
84	regulation of Golgi to plasma membrane protein transport (GO:0042996)	2.98435638
85	multicellular organismal aging (GO:0010259)	2.94824964
86	nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)	2.92962649
87	protein import into peroxisome matrix (GO:0016558)	2.92879554
88	positive regulation of icosanoid secretion (GO:0032305)	2.92266551
89	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.89592247
90	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.89592247
91	DNA excision (GO:0044349)	2.82240386
92	nucleotide-excision repair, DNA damage removal (GO:0000718)	2.82240386
93	phasic smooth muscle contraction (GO:0014821)	2.81231533
94	positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)	2.80945830
95	positive regulation of mRNA processing (GO:0050685)	2.79358893
96	protein autoubiquitination (GO:0051865)	2.78206003
97	positive regulation of fatty acid transport (GO:2000193)	2.76983660
98	gene silencing by RNA (GO:0031047)	2.74920399
99	succinate metabolic process (GO:0006105)	12.4628254
100	peptidyl-arginine omega-N-methylation (GO:0035247)	10.0914932

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA1_22025678_ChIP-Seq_K562_Human	8.10862477
2	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	4.14524783
3	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	3.91851790
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.79131126
5	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.52198493
6	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.32764295
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.03679184
8	VDR_22108803_ChIP-Seq_LS180_Human	2.85836870
9	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.85623044
10	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.84979366
11	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	2.09161920
12	AUTS2_25519132_ChIP-Seq_293T-REX_Human	2.01567010
13	STAT6_21828071_ChIP-Seq_BEAS2B_Human	10.5237359
14	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.90899056
15	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.90052157
16	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.78524358
17	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.77798370
18	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.75280698
19	IRF1_19129219_ChIP-ChIP_H3396_Human	1.70678618
20	RUNX1_26923725_Chip-Seq_HPCs_Mouse	1.70315836
21	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.62933863
22	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.62110160
23	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.59274663
24	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.56716409
25	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.47817828
26	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.47817828
27	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.47714173
28	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.45566290
29	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.34789943
30	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.30575677
31	ERA_21632823_ChIP-Seq_H3396_Human	1.29657949
32	BCOR_27268052_Chip-Seq_Bcells_Human	1.26734248
33	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.26536577
34	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.25434737
35	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.25268199
36	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.22155732
37	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.20570420
38	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.16545294
39	GATA6_25053715_ChIP-Seq_YYC3_Human	1.13158041
40	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.12932962
41	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.12280487
42	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.12123893
43	ZNF263_19887448_ChIP-Seq_K562_Human	1.11459908
44	OCT4_20526341_ChIP-Seq_ESCs_Human	1.10552507
45	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.09986314
46	GF1B_26923725_Chip-Seq_HPCs_Mouse	1.08058652
47	MYC_19829295_ChIP-Seq_ESCs_Human	1.06179493
48	BCAT_22108803_ChIP-Seq_LS180_Human	1.05804384
49	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.05262497
50	GBX2_23144817_ChIP-Seq_PC3_Human	1.04158771
51	FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human	1.03506960
52	RAC3_21632823_ChIP-Seq_H3396_Human	1.00893743
53	NCOR_22424771_ChIP-Seq_293T_Human	0.99288981
54	TCF4_23295773_ChIP-Seq_U87_Human	0.97164250
55	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.96619252
56	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.96152489
57	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	0.94528802
58	NFI_21473784_ChIP-Seq_ESCs_Mouse	0.93202830
59	GATA4_25053715_ChIP-Seq_YYC3_Human	0.92161399
60	ESET_19884257_ChIP-Seq_ESCs_Mouse	0.89514903
61	CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.89160942
62	FOXP3_21729870_ChIP-Seq_TREG_Human	0.88572872
63	CBP_20019798_ChIP-Seq_JUKART_Human	0.88064149
64	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.88064149
65	SETDB1_19884257_ChIP-Seq_MESCs_Mouse	0.87528806
66	SOX2_27498859_Chip-Seq_STOMACH_Mouse	0.86171370
67	PPARA_22158963_ChIP-Seq_LIVER_Mouse	0.85239497
68	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	0.84363853
69	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.83386713
70	SOX2_20726797_ChIP-Seq_SW620_Human	0.83307175
71	TP53_22573176_ChIP-Seq_HFKS_Human	0.82905117
72	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	0.82747778
73	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.82438376
74	SOX2_22085726_ChIP-Seq_NPCs_Mouse	0.81828707
75	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.81316570
76	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.81182360
77	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.80577299
78	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.80514771
79	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.78854430
80	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.78631274
81	TET1_21490601_ChIP-Seq_MESCs_Mouse	0.78082271
82	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.78079290
83	RXR_22108803_ChIP-Seq_LS180_Human	0.77429951
84	REST_21632747_ChIP-Seq_MESCs_Mouse	0.75965408
85	VDR_23849224_ChIP-Seq_CD4+_Human	0.75782520
86	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.75765783
87	RARA_24833708_ChIP-Seq_LIVER_Mouse	0.75346155
88	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.74963186
89	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.74512046
90	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.74050751
91	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.73459067
92	TP53_16413492_ChIP-PET_HCT116_Human	0.73337218
93	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.72324661
94	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.70886419
95	TAF2_19829295_ChIP-Seq_ESCs_Human	0.70749280
96	CJUN_26792858_Chip-Seq_BT549_Human	0.70683734
97	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.70126241
98	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.69557013
99	ZNF274_21170338_ChIP-Seq_K562_Hela	0.69539914
100	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.69483330

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005365_abnormal_bile_salt	6.07179316
2	MP0005085_abnormal_gallbladder_physiolo	4.25941952
3	MP0008877_abnormal_DNA_methylation	3.67900985
4	MP0009780_abnormal_chondrocyte_physiolo	2.85171728
5	MP0000751_myopathy	2.44239324
6	MP0009278_abnormal_bone_marrow	2.34027620
7	MP0003787_abnormal_imprinting	2.32534672
8	MP0000747_muscle_weakness	2.23109562
9	MP0003868_abnormal_feces_composition	2.20597893
10	MP0005058_abnormal_lysosome_morphology	2.10740053
11	MP0001485_abnormal_pinna_reflex	2.06604429
12	MP0003567_abnormal_fetal_cardiomyocyte	2.06091096
13	MP0000749_muscle_degeneration	2.01226092
14	MP0009764_decreased_sensitivity_to	2.00478623
15	MP0000566_synostosis	10.6289951
16	MP0009046_muscle_twitch	1.93488405
17	MP0003283_abnormal_digestive_organ	1.85273685
18	MP0002332_abnormal_exercise_endurance	1.85192621
19	MP0003221_abnormal_cardiomyocyte_apopto	1.77976504
20	MP0002139_abnormal_hepatobiliary_system	1.76001971
21	MP0003656_abnormal_erythrocyte_physiolo	1.68545110
22	MP0001299_abnormal_eye_distance/	1.67279281
23	MP0008260_abnormal_autophagy	1.64855105
24	MP0003121_genomic_imprinting	1.62621191
25	MP0001666_abnormal_nutrient_absorption	1.55561534
26	MP0006036_abnormal_mitochondrial_physio	1.54320852
27	MP0008875_abnormal_xenobiotic_pharmacok	1.51887727
28	MP0003195_calcinosis	1.40471060
29	MP0002102_abnormal_ear_morphology	1.39197082
30	MP0002751_abnormal_autonomic_nervous	1.38564460
31	MP0003122_maternal_imprinting	1.38315195
32	MP0003806_abnormal_nucleotide_metabolis	1.33255328
33	MP0005410_abnormal_fertilization	1.29543962
34	MP0000470_abnormal_stomach_morphology	1.27671391
35	MP0009053_abnormal_anal_canal	1.26145181
36	MP0009840_abnormal_foam_cell	1.25577932
37	MP0000538_abnormal_urinary_bladder	1.24942371
38	MP0002210_abnormal_sex_determination	1.24541827
39	MP0001145_abnormal_male_reproductive	1.24342122
40	MP0000490_abnormal_crypts_of	1.24312906
41	MP0010386_abnormal_urinary_bladder	1.24005731
42	MP0000681_abnormal_thyroid_gland	1.21795983
43	MP0005083_abnormal_biliary_tract	1.21302124
44	MP0005332_abnormal_amino_acid	1.20191174
45	MP0004742_abnormal_vestibular_system	1.20049926
46	MP0001929_abnormal_gametogenesis	1.18237889
47	MP0005551_abnormal_eye_electrophysiolog	1.14906401
48	MP0002837_dystrophic_cardiac_calcinosis	1.10957699
49	MP0000631_abnormal_neuroendocrine_gland	1.07421956
50	MP0000653_abnormal_sex_gland	1.06740071
51	MP0005360_urolithiasis	0.98747076
52	MP0006035_abnormal_mitochondrial_morpho	0.97438455
53	MP0002111_abnormal_tail_morphology	0.95919370
54	MP0005646_abnormal_pituitary_gland	0.95687777
55	MP0004484_altered_response_of	0.94224453
56	MP0003936_abnormal_reproductive_system	0.93551469
57	MP0005266_abnormal_metabolism	0.90848851
58	MP0002932_abnormal_joint_morphology	0.89009620
59	MP0001944_abnormal_pancreas_morphology	0.84985020
60	MP0008057_abnormal_DNA_replication	0.84881994
61	MP0001501_abnormal_sleep_pattern	0.84615654
62	MP0002735_abnormal_chemical_nociception	0.83729963
63	MP0005386_behavior/neurological_phenoty	0.83434792
64	MP0004924_abnormal_behavior	0.83434792
65	MP0009697_abnormal_copulation	0.83197864
66	MP0001727_abnormal_embryo_implantation	0.81600201
67	MP0001756_abnormal_urination	0.81308340
68	MP0002064_seizures	0.79847174
69	MP0001664_abnormal_digestion	0.77522066
70	MP0002938_white_spotting	0.75965596
71	MP0002653_abnormal_ependyma_morphology	0.75962587
72	MP0002272_abnormal_nervous_system	0.75908826
73	MP0000639_abnormal_adrenal_gland	0.75667343
74	MP0010329_abnormal_lipoprotein_level	0.75625870
75	MP0001544_abnormal_cardiovascular_syste	0.75194395
76	MP0005385_cardiovascular_system_phenoty	0.75194395
77	MP0004782_abnormal_surfactant_physiolog	0.74247168
78	MP0000372_irregular_coat_pigmentation	0.73199140
79	MP0003942_abnormal_urinary_system	0.69010279
80	MP0003698_abnormal_male_reproductive	0.68230603
81	MP0000477_abnormal_intestine_morphology	0.67270530
82	MP0004130_abnormal_muscle_cell	0.66588330
83	MP0005319_abnormal_enzyme/_coenzyme	0.64842798
84	MP0002733_abnormal_thermal_nociception	0.64791303
85	MP0003119_abnormal_digestive_system	0.63697314
86	MP0005369_muscle_phenotype	0.62909972
87	MP0002160_abnormal_reproductive_system	0.62422661
88	MP0005389_reproductive_system_phenotype	0.61312882
89	MP0001968_abnormal_touch/_nociception	0.60282859
90	MP0002572_abnormal_emotion/affect_behav	0.58079960
91	MP0001970_abnormal_pain_threshold	0.57599778
92	MP0003950_abnormal_plasma_membrane	0.57212518
93	MP0001963_abnormal_hearing_physiology	0.56810752
94	MP0009745_abnormal_behavioral_response	0.56499107
95	MP0002138_abnormal_hepatobiliary_system	0.56240869
96	MP0004197_abnormal_fetal_growth/weight/	0.53771658
97	MP0002118_abnormal_lipid_homeostasis	0.53206728
98	MP0005508_abnormal_skeleton_morphology	0.52682129
99	MP0005584_abnormal_enzyme/coenzyme_acti	0.52523152
100	MP0008569_lethality_at_weaning	0.51437060

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Absent rod-and cone-mediated responses on ERG (HP:0007688)	6.90459796
2	Decreased central vision (HP:0007663)	5.79527215
3	Humeroradial synostosis (HP:0003041)	5.72416079
4	Synostosis involving the elbow (HP:0003938)	5.72416079
5	Dicarboxylic aciduria (HP:0003215)	5.32614568
6	Abnormality of dicarboxylic acid metabolism (HP:0010995)	5.32614568
7	Unsteady gait (HP:0002317)	5.28666121
8	Hypophosphatemia (HP:0002148)	4.44911830
9	Attenuation of retinal blood vessels (HP:0007843)	4.10510089
10	Abnormal rod and cone electroretinograms (HP:0008323)	4.01449403
11	Pheochromocytoma (HP:0002666)	3.84721081
12	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	3.63215293
13	Tetraparesis (HP:0002273)	3.50601149
14	Symphalangism affecting the phalanges of the hand (HP:0009773)	3.30445459
15	Neuroendocrine neoplasm (HP:0100634)	3.21311223
16	Hypoplasia of the thymus (HP:0000778)	3.19124381
17	Amblyopia (HP:0000646)	3.15965484
18	Turricephaly (HP:0000262)	3.07216047
19	Prolonged neonatal jaundice (HP:0006579)	3.06809013
20	Cubitus valgus (HP:0002967)	3.04651312
21	Cerebral hemorrhage (HP:0001342)	2.98902876
22	Upper limb muscle weakness (HP:0003484)	2.89597109
23	Clitoromegaly (HP:0000057)	2.81750365
24	Optic nerve hypoplasia (HP:0000609)	2.79859513
25	Hand muscle atrophy (HP:0009130)	2.71776334
26	Conjunctival hamartoma (HP:0100780)	2.70193907
27	Nonimmune hydrops fetalis (HP:0001790)	2.52262470
28	Hyperglycinemia (HP:0002154)	2.50750081
29	Gaze-evoked nystagmus (HP:0000640)	2.44991351
30	Meningioma (HP:0002858)	2.44270149
31	Increased serum pyruvate (HP:0003542)	2.42924347
32	Respiratory failure (HP:0002878)	2.38769535
33	Febrile seizures (HP:0002373)	2.35621879
34	Pancreatic cysts (HP:0001737)	2.35183633
35	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.32640098
36	Pendular nystagmus (HP:0012043)	2.32562924
37	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.30205145
38	Short 1st metacarpal (HP:0010034)	2.30205145
39	Hydroxyprolinuria (HP:0003080)	2.27163685
40	Abnormality of proline metabolism (HP:0010907)	2.27163685
41	Limb hypertonia (HP:0002509)	2.27010017
42	Congenital stationary night blindness (HP:0007642)	2.25860710
43	Steatorrhea (HP:0002570)	2.24516670
44	Neoplasm of the adrenal gland (HP:0100631)	2.24475405
45	Bone cyst (HP:0012062)	2.23366055
46	Abnormality of glycolysis (HP:0004366)	2.22047494
47	Intellectual disability, severe (HP:0010864)	2.20187586
48	Oral leukoplakia (HP:0002745)	2.19893873
49	Hamartoma of the eye (HP:0010568)	2.17132813
50	Brushfield spots (HP:0001088)	2.13556869
51	Upper limb amyotrophy (HP:0009129)	2.12958470
52	Distal upper limb amyotrophy (HP:0007149)	2.12958470
53	Tubulointerstitial fibrosis (HP:0005576)	2.10788057
54	Hypoalphalipoproteinemia (HP:0003233)	2.07995726
55	Abnormality of the 1st metacarpal (HP:0010009)	2.06118961
56	Respiratory distress (HP:0002098)	2.05404336
57	Abnormality of the vocal cords (HP:0008777)	2.05203150
58	Hemiplegia (HP:0002301)	2.04043857
59	Hyperventilation (HP:0002883)	17.3514481
60	Methylmalonic aciduria (HP:0012120)	11.0901698
61	Focal motor seizures (HP:0011153)	1.99510718
62	Insulin-resistant diabetes mellitus (HP:0000831)	1.97181966
63	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.97004114
64	Hyperhidrosis (HP:0000975)	1.95010314
65	Synostosis involving bones of the feet (HP:0009140)	1.93944879
66	Synostosis involving bones of the lower limbs (HP:0009138)	1.93944879
67	Abnormality of fatty-acid metabolism (HP:0004359)	1.91925239
68	Cystic liver disease (HP:0006706)	1.91128177
69	Hyperglycinuria (HP:0003108)	1.87930681
70	Amelogenesis imperfecta (HP:0000705)	1.83157212
71	Lactic acidosis (HP:0003128)	1.83007876
72	Abnormality of serine family amino acid metabolism (HP:0010894)	1.82620221
73	Abnormality of glycine metabolism (HP:0010895)	1.82620221
74	Furrowed tongue (HP:0000221)	1.82270435
75	Bony spicule pigmentary retinopathy (HP:0007737)	1.81405406
76	Supernumerary spleens (HP:0009799)	1.79977348
77	Long foot (HP:0001833)	1.78565979
78	Pancreatic fibrosis (HP:0100732)	1.77921488
79	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.72475128
80	Epileptic encephalopathy (HP:0200134)	1.71993532
81	Fat malabsorption (HP:0002630)	1.70488534
82	Confusion (HP:0001289)	1.68532310
83	Palpebral edema (HP:0100540)	1.67437410
84	Neoplasm of the peripheral nervous system (HP:0100007)	1.65028265
85	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.63771043
86	Type II lissencephaly (HP:0007260)	1.63339882
87	Hyperglycemia (HP:0003074)	1.58038262
88	Enlarged kidneys (HP:0000105)	1.57294198
89	Pili torti (HP:0003777)	1.56778536
90	Abnormal biliary tract morphology (HP:0012440)	1.54514580
91	Bile duct proliferation (HP:0001408)	1.52111379
92	Abnormal biliary tract physiology (HP:0012439)	1.52111379
93	Synostosis involving bones of the hand (HP:0004278)	1.51460429
94	Severe visual impairment (HP:0001141)	1.49822528
95	Abnormality of the clitoris (HP:0000056)	1.49156745
96	Polar cataract (HP:0010696)	1.45151458
97	Progressive inability to walk (HP:0002505)	1.44519162
98	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.44494244
99	Long clavicles (HP:0000890)	1.43636571
100	Ketosis (HP:0001946)	1.43324650

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK8	6.87037459
2	MAP3K4	6.81567644
3	MST1R	3.44472015
4	DYRK1B	2.99981229
5	GRK7	2.95345047
6	CSNK1G3	2.86256799
7	CSNK1A1L	2.84710819
8	ZAK	2.79261532
9	CASK	2.53545025
10	TGFBR2	2.50469502
11	MOS	2.47023723
12	GRK5	2.40764769
13	CSNK1G2	2.38416352
14	DYRK3	2.28784311
15	CSNK1G1	2.23688028
16	MST4	2.15211928
17	FRK	2.07735076
18	VRK2	1.98882704
19	CDK19	1.95224842
20	STK10	1.92001336
21	BRD4	1.60522157
22	MET	1.40845994
23	SMG1	1.35811576
24	MARK1	1.30137991
25	MAP2K7	1.26790020
26	KDR	1.21932693
27	NUAK1	1.15462510
28	STK38L	1.12270458
29	TAF1	1.10641734
30	TLK1	1.05277891
31	PRKCI	0.92054658
32	EIF2AK2	0.91364961
33	CLK1	0.91166431
34	MAP3K7	0.85183058
35	GRK1	0.83734102
36	BLK	0.83686826
37	PKN1	0.79933140
38	RPS6KA6	0.73129256
39	DYRK2	0.72199028
40	TRIB3	0.71832426
41	STK11	0.68147789
42	VRK1	0.67469983
43	LIMK1	0.65545417
44	CAMK4	0.65355091
45	OBSCN	0.65353611
46	IRAK3	0.65243886
47	MAP3K13	0.64680804
48	ERN1	0.62320297
49	EPHA2	0.57640294
50	ERBB4	0.56646947
51	DAPK2	0.56252198
52	RPS6KA5	0.51135370
53	MAP4K1	0.50588272
54	MAPK7	0.49949577
55	NME1	0.43967999
56	TTK	0.42750208
57	AURKA	0.40985863
58	PHKG2	0.40358318
59	PHKG1	0.40358318
60	CAMKK2	0.40014718
61	STK4	0.39749717
62	MAPK12	0.37740315
63	ADRBK1	0.37622772
64	STK3	0.37317992
65	TIE1	0.36974472
66	MELK	0.36349314
67	TBK1	0.36289641
68	LMTK2	0.34836792
69	CDK9	0.34574497
70	CSF1R	0.34325587
71	PINK1	0.34110485
72	PTK2	0.31748843
73	MAPKAPK5	0.30784852
74	PDK2	0.30604872
75	HIPK2	0.29175860
76	ILK	0.28888198
77	CSNK1D	0.28316508
78	CAMK2A	0.27863742
79	DYRK1A	0.26501850
80	MARK3	0.26396906
81	MAP3K8	0.25375028
82	PDK1	0.25051385
83	PRKCZ	0.20333746
84	STK38	0.19457899
85	CSNK1A1	0.19290578
86	MAP2K4	0.18860993
87	BRSK1	0.18506030
88	CSNK2A1	0.18146239
89	TXK	0.17729706
90	MUSK	0.17312015
91	IRAK4	0.17280155
92	CAMK1	0.17237569
93	MAPK8	0.16926054
94	MKNK2	0.16810350
95	CHEK2	0.15662211
96	DAPK3	0.14970694
97	CAMK2D	0.14217231
98	PRKCG	0.14160042
99	TTN	0.13756646
100	PRKAA2	0.13716260

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	8.76679582
2	Propanoate metabolism_Homo sapiens_hsa00640	5.60650299
3	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	4.21835313
4	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.95661596
5	Carbon metabolism_Homo sapiens_hsa01200	2.78430800
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.74905053
7	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.31290641
8	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.02692964
9	Galactose metabolism_Homo sapiens_hsa00052	2.00658419
10	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.86012531
11	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.85737228
12	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.72439700
13	Proteasome_Homo sapiens_hsa03050	1.63307298
14	Mismatch repair_Homo sapiens_hsa03430	1.59176369
15	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.56018944
16	Nucleotide excision repair_Homo sapiens_hsa03420	1.54117336
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.20300297
18	Retinol metabolism_Homo sapiens_hsa00830	1.19035900
19	Fat digestion and absorption_Homo sapiens_hsa04975	1.16955129
20	Chemical carcinogenesis_Homo sapiens_hsa05204	1.15695325
21	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.14626981
22	Base excision repair_Homo sapiens_hsa03410	1.13668917
23	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.12948458
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.12718741
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.11265413
26	ABC transporters_Homo sapiens_hsa02010	1.09044912
27	Pancreatic secretion_Homo sapiens_hsa04972	1.08579779
28	Oxidative phosphorylation_Homo sapiens_hsa00190	1.06542583
29	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.04982739
30	Phenylalanine metabolism_Homo sapiens_hsa00360	1.03439049
31	RNA degradation_Homo sapiens_hsa03018	1.03274666
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.91393117
33	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.91089403
34	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.86807332
35	Glycerolipid metabolism_Homo sapiens_hsa00561	0.86336519
36	Homologous recombination_Homo sapiens_hsa03440	0.83525341
37	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.83013240
38	beta-Alanine metabolism_Homo sapiens_hsa00410	0.81467604
39	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.81362698
40	Protein digestion and absorption_Homo sapiens_hsa04974	0.80882057
41	Fanconi anemia pathway_Homo sapiens_hsa03460	0.80154169
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.77722721
43	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.74674407
44	Huntingtons disease_Homo sapiens_hsa05016	0.73121814
45	Nitrogen metabolism_Homo sapiens_hsa00910	0.72200326
46	Parkinsons disease_Homo sapiens_hsa05012	0.70021849
47	Linoleic acid metabolism_Homo sapiens_hsa00591	0.69997731
48	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.69804702
49	Alzheimers disease_Homo sapiens_hsa05010	0.68817431
50	Pyrimidine metabolism_Homo sapiens_hsa00240	0.68258714
51	Bile secretion_Homo sapiens_hsa04976	0.66226287
52	Peroxisome_Homo sapiens_hsa04146	0.66048186
53	Arginine and proline metabolism_Homo sapiens_hsa00330	0.63920081
54	Phototransduction_Homo sapiens_hsa04744	0.63566125
55	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.62035525
56	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.61694015
57	Tyrosine metabolism_Homo sapiens_hsa00350	0.61394056
58	Glutathione metabolism_Homo sapiens_hsa00480	0.60564364
59	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.59274446
60	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.58636409
61	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.57985935
62	Arginine biosynthesis_Homo sapiens_hsa00220	0.55673477
63	Caffeine metabolism_Homo sapiens_hsa00232	0.53828583
64	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.53595863
65	One carbon pool by folate_Homo sapiens_hsa00670	0.51705025
66	Metabolic pathways_Homo sapiens_hsa01100	0.51615126
67	Basal transcription factors_Homo sapiens_hsa03022	0.50346268
68	RNA polymerase_Homo sapiens_hsa03020	0.46832196
69	Fatty acid degradation_Homo sapiens_hsa00071	0.46587914
70	Melanoma_Homo sapiens_hsa05218	0.46133470
71	AMPK signaling pathway_Homo sapiens_hsa04152	0.45516583
72	Tight junction_Homo sapiens_hsa04530	0.42447839
73	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.40342363
74	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.39162579
75	mRNA surveillance pathway_Homo sapiens_hsa03015	0.38901427
76	Dopaminergic synapse_Homo sapiens_hsa04728	0.37086769
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.36880832
78	Mineral absorption_Homo sapiens_hsa04978	0.35162719
79	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.33820868
80	Ether lipid metabolism_Homo sapiens_hsa00565	0.33490740
81	Purine metabolism_Homo sapiens_hsa00230	0.33437349
82	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.33163418
83	Pentose phosphate pathway_Homo sapiens_hsa00030	0.31420644
84	Tryptophan metabolism_Homo sapiens_hsa00380	0.30227402
85	Cardiac muscle contraction_Homo sapiens_hsa04260	0.30095126
86	Rap1 signaling pathway_Homo sapiens_hsa04015	0.27930821
87	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.27076775
88	Apoptosis_Homo sapiens_hsa04210	0.26603361
89	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.26511822
90	Other glycan degradation_Homo sapiens_hsa00511	0.24837569
91	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.24455272
92	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.23557865
93	Folate biosynthesis_Homo sapiens_hsa00790	0.22670416
94	Regulation of autophagy_Homo sapiens_hsa04140	0.21923642
95	Cell cycle_Homo sapiens_hsa04110	0.21179162
96	DNA replication_Homo sapiens_hsa03030	0.20823059
97	Sphingolipid metabolism_Homo sapiens_hsa00600	0.19611173
98	Small cell lung cancer_Homo sapiens_hsa05222	0.18902280
99	Renin-angiotensin system_Homo sapiens_hsa04614	0.17375509
100	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.16612357

AKR1B10P1

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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