ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of hexokinase activity (GO:1903299)	5.14364250
2	regulation of glucokinase activity (GO:0033131)	5.14364250
3	protein polyglutamylation (GO:0018095)	4.94638122
4	positive regulation of mitochondrial fission (GO:0090141)	4.91035683
5	chaperone-mediated protein transport (GO:0072321)	4.74535780
6	proteasome assembly (GO:0043248)	4.51940942
7	protein K6-linked ubiquitination (GO:0085020)	4.24546185
8	platelet dense granule organization (GO:0060155)	4.12601870
9	sequestering of actin monomers (GO:0042989)	4.10413536
10	dopamine transport (GO:0015872)	4.10117205
11	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.07736991
12	xenobiotic catabolic process (GO:0042178)	3.93309169
13	pyrimidine nucleobase catabolic process (GO:0006208)	3.76544419
14	ATP synthesis coupled proton transport (GO:0015986)	3.72224704
15	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.72224704
16	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.55145617
17	positive regulation of amino acid transport (GO:0051957)	3.54060248
18	behavioral response to nicotine (GO:0035095)	3.53588995
19	response to nitrosative stress (GO:0051409)	3.52478773
20	protein deneddylation (GO:0000338)	3.46053074
21	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.40461247
22	cardiac left ventricle morphogenesis (GO:0003214)	3.31910943
23	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.29957527
24	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.29957527
25	negative regulation of leukocyte chemotaxis (GO:0002689)	3.28466589
26	L-fucose catabolic process (GO:0042355)	3.28168626
27	fucose catabolic process (GO:0019317)	3.28168626
28	L-fucose metabolic process (GO:0042354)	3.28168626
29	replication fork processing (GO:0031297)	3.24595181
30	response to misfolded protein (GO:0051788)	3.23385154
31	nucleobase catabolic process (GO:0046113)	3.23251143
32	mitochondrial calcium ion homeostasis (GO:0051560)	3.19789739
33	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	3.18894535
34	CENP-A containing nucleosome assembly (GO:0034080)	3.17750481
35	mitochondrial fission (GO:0000266)	3.11176533
36	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.11149141
37	cullin deneddylation (GO:0010388)	3.10562514
38	protein complex biogenesis (GO:0070271)	3.08601866
39	electron transport chain (GO:0022900)	3.06823460
40	nonmotile primary cilium assembly (GO:0035058)	3.04435792
41	respiratory electron transport chain (GO:0022904)	3.03428775
42	cellular response to vitamin D (GO:0071305)	3.03318771
43	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	3.02081950
44	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.99842832
45	termination of RNA polymerase III transcription (GO:0006386)	2.99842832
46	chromatin remodeling at centromere (GO:0031055)	2.99187879
47	water-soluble vitamin biosynthetic process (GO:0042364)	2.97564328
48	organelle disassembly (GO:1903008)	2.97114402
49	cholesterol biosynthetic process (GO:0006695)	2.95475299
50	regulation of mitochondrial fission (GO:0090140)	2.94001614
51	sterol biosynthetic process (GO:0016126)	2.92325376
52	isoprenoid biosynthetic process (GO:0008299)	2.92275982
53	positive regulation of prostaglandin secretion (GO:0032308)	2.88283710
54	negative regulation of protein localization to cell surface (GO:2000009)	2.85781627
55	artery smooth muscle contraction (GO:0014824)	2.85645442
56	kinetochore assembly (GO:0051382)	2.84138317
57	ribonucleoprotein complex disassembly (GO:0032988)	2.83289378
58	L-serine metabolic process (GO:0006563)	2.81199212
59	anterograde axon cargo transport (GO:0008089)	2.81029399
60	aggressive behavior (GO:0002118)	2.78746388
61	neural tube formation (GO:0001841)	2.75053951
62	histone exchange (GO:0043486)	2.72721673
63	glutathione derivative metabolic process (GO:1901685)	2.71973822
64	glutathione derivative biosynthetic process (GO:1901687)	2.71973822
65	norepinephrine metabolic process (GO:0042415)	2.71075890
66	positive regulation of organic acid transport (GO:0032892)	2.70183442
67	negative regulation of execution phase of apoptosis (GO:1900118)	2.69604258
68	regulation of sarcomere organization (GO:0060297)	2.69357321
69	mitochondrial respiratory chain complex assembly (GO:0033108)	2.65775575
70	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.64133616
71	NADH dehydrogenase complex assembly (GO:0010257)	2.64133616
72	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.64133616
73	negative regulation of telomere maintenance (GO:0032205)	2.60881080
74	peroxisome fission (GO:0016559)	2.60407923
75	cell fate commitment involved in formation of primary germ layer (GO:0060795)	2.60274651
76	response to pheromone (GO:0019236)	2.59814642
77	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.59494852
78	protein neddylation (GO:0045116)	2.57411956
79	respiratory chain complex IV assembly (GO:0008535)	2.55798686
80	catecholamine transport (GO:0051937)	2.54168341
81	positive regulation of cAMP-mediated signaling (GO:0043950)	2.53419711
82	adaptation of signaling pathway (GO:0023058)	2.52994266
83	retinal ganglion cell axon guidance (GO:0031290)	2.52990032
84	regulation of cilium movement (GO:0003352)	2.52302182
85	histone H2A acetylation (GO:0043968)	2.51359888
86	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.50643822
87	transmission of nerve impulse (GO:0019226)	2.49590061
88	kinetochore organization (GO:0051383)	2.49020372
89	estrogen biosynthetic process (GO:0006703)	2.46397493
90	DNA strand renaturation (GO:0000733)	2.45836106
91	negative regulation of mast cell activation (GO:0033004)	2.44957148
92	anterograde synaptic vesicle transport (GO:0048490)	2.44881359
93	tonic smooth muscle contraction (GO:0014820)	2.42143001
94	C4-dicarboxylate transport (GO:0015740)	2.39632863
95	hydrogen ion transmembrane transport (GO:1902600)	2.39607410
96	regulation of meiosis I (GO:0060631)	2.38311485
97	protein peptidyl-prolyl isomerization (GO:0000413)	2.38251040
98	cellular response to sterol (GO:0036315)	2.36741224
99	proton transport (GO:0015992)	2.36464688
100	postsynaptic membrane organization (GO:0001941)	2.36369397

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.54292274
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.53106803
3	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.26830124
4	GBX2_23144817_ChIP-Seq_PC3_Human	3.00470947
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.96975855
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.94852742
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.93609369
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.80441898
9	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.71047065
10	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.48778159
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.42567540
12	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.32101078
13	ELK1_19687146_ChIP-ChIP_HELA_Human	2.26976616
14	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.13060217
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.08435194
16	POU5F1_16153702_ChIP-ChIP_HESCs_Human	2.06665538
17	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.03304891
18	P300_19829295_ChIP-Seq_ESCs_Human	1.99163034
19	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.92708463
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.88686483
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.80718430
22	IGF1R_20145208_ChIP-Seq_DFB_Human	1.79397296
23	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.78729822
24	VDR_22108803_ChIP-Seq_LS180_Human	1.76743027
25	EWS_26573619_Chip-Seq_HEK293_Human	1.71968355
26	FUS_26573619_Chip-Seq_HEK293_Human	1.71616135
27	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.69636279
28	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.67623865
29	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.66354624
30	EZH2_22144423_ChIP-Seq_EOC_Human	1.65089478
31	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.57758745
32	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56945300
33	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.51425187
34	ER_23166858_ChIP-Seq_MCF-7_Human	1.50038198
35	IRF1_19129219_ChIP-ChIP_H3396_Human	1.49927892
36	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.49182390
37	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.49084413
38	BCAT_22108803_ChIP-Seq_LS180_Human	1.47267087
39	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.46520290
40	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.45473956
41	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.44857046
42	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.44401137
43	TAF15_26573619_Chip-Seq_HEK293_Human	1.43228703
44	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41375608
45	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.40821095
46	AR_20517297_ChIP-Seq_VCAP_Human	1.40538029
47	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.38852783
48	AR_25329375_ChIP-Seq_VCAP_Human	1.36178775
49	HTT_18923047_ChIP-ChIP_STHdh_Human	1.35421004
50	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.33279613
51	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32326366
52	SMAD4_21799915_ChIP-Seq_A2780_Human	1.30228334
53	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.28610866
54	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.26065921
55	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.25829770
56	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.25829770
57	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.25352116
58	MYC_18940864_ChIP-ChIP_HL60_Human	1.25192426
59	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.24978561
60	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.24485489
61	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.23272754
62	NANOG_19829295_ChIP-Seq_ESCs_Human	1.23221428
63	SOX2_19829295_ChIP-Seq_ESCs_Human	1.23221428
64	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.19467263
65	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.18650006
66	CBP_20019798_ChIP-Seq_JUKART_Human	1.18590854
67	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.18590854
68	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.18443256
69	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.18424185
70	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.18045123
71	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.17537753
72	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.14869186
73	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.14783485
74	ERG_20517297_ChIP-Seq_VCAP_Human	1.13925370
75	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.13797324
76	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.13521301
77	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.13498279
78	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.12688179
79	VDR_23849224_ChIP-Seq_CD4+_Human	1.10915269
80	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.10589030
81	TCF4_22108803_ChIP-Seq_LS180_Human	1.10358160
82	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.10170044
83	TP53_22573176_ChIP-Seq_HFKS_Human	1.08897461
84	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.08860796
85	NCOR_22424771_ChIP-Seq_293T_Human	1.08007049
86	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.07925066
87	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.07603196
88	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.06313918
89	RUNX2_22187159_ChIP-Seq_PCA_Human	1.05425791
90	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05141425
91	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.04695833
92	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.04033080
93	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.03997952
94	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.01643508
95	REST_21632747_ChIP-Seq_MESCs_Mouse	1.01387101
96	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.00681350
97	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.99499047
98	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.99422820
99	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.96524950
100	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.96453555

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003011_delayed_dark_adaptation	4.47010635
2	MP0003195_calcinosis	3.66083559
3	MP0006072_abnormal_retinal_apoptosis	3.03179087
4	MP0006292_abnormal_olfactory_placode	2.90650679
5	MP0003122_maternal_imprinting	2.77890687
6	MP0006276_abnormal_autonomic_nervous	2.54525177
7	MP0002102_abnormal_ear_morphology	2.48041153
8	MP0003880_abnormal_central_pattern	2.26867199
9	MP0002938_white_spotting	2.16018394
10	MP0005377_hearing/vestibular/ear_phenot	2.10067617
11	MP0003878_abnormal_ear_physiology	2.10067617
12	MP0000372_irregular_coat_pigmentation	2.08468237
13	MP0000569_abnormal_digit_pigmentation	2.04970021
14	MP0008789_abnormal_olfactory_epithelium	2.04718029
15	MP0003121_genomic_imprinting	2.02149330
16	MP0008877_abnormal_DNA_methylation	2.01786343
17	MP0001529_abnormal_vocalization	1.98566093
18	MP0005551_abnormal_eye_electrophysiolog	1.97139188
19	MP0005646_abnormal_pituitary_gland	1.93608664
20	MP0002735_abnormal_chemical_nociception	1.89257097
21	MP0001485_abnormal_pinna_reflex	1.87159791
22	MP0008875_abnormal_xenobiotic_pharmacok	1.85479164
23	MP0002638_abnormal_pupillary_reflex	1.83331582
24	MP0000778_abnormal_nervous_system	1.79442504
25	MP0004742_abnormal_vestibular_system	1.78001896
26	MP0005253_abnormal_eye_physiology	1.74288211
27	MP0001879_abnormal_lymphatic_vessel	1.73044971
28	MP0002736_abnormal_nociception_after	1.65268050
29	MP0004147_increased_porphyrin_level	1.63657760
30	MP0006054_spinal_hemorrhage	1.60865448
31	MP0005084_abnormal_gallbladder_morpholo	1.56844812
32	MP0005499_abnormal_olfactory_system	1.55774228
33	MP0005394_taste/olfaction_phenotype	1.55774228
34	MP0002653_abnormal_ependyma_morphology	1.52817758
35	MP0010368_abnormal_lymphatic_system	1.51486889
36	MP0005645_abnormal_hypothalamus_physiol	1.50695886
37	MP0002282_abnormal_trachea_morphology	1.49838448
38	MP0005248_abnormal_Harderian_gland	1.42298731
39	MP0005379_endocrine/exocrine_gland_phen	1.40656601
40	MP0002272_abnormal_nervous_system	1.37078511
41	MP0000383_abnormal_hair_follicle	1.34275658
42	MP0002572_abnormal_emotion/affect_behav	1.31749986
43	MP0000631_abnormal_neuroendocrine_gland	1.29323849
44	MP0002138_abnormal_hepatobiliary_system	1.28140393
45	MP0010386_abnormal_urinary_bladder	1.28020069
46	MP0001440_abnormal_grooming_behavior	1.26736184
47	MP0008872_abnormal_physiological_respon	1.25719043
48	MP0005332_abnormal_amino_acid	1.23338237
49	MP0003787_abnormal_imprinting	1.21834398
50	MP0004142_abnormal_muscle_tone	1.21532185
51	MP0009046_muscle_twitch	1.21293603
52	MP0004885_abnormal_endolymph	1.20946378
53	MP0001293_anophthalmia	1.18955866
54	MP0001486_abnormal_startle_reflex	1.18858247
55	MP0003879_abnormal_hair_cell	1.15686244
56	MP0006035_abnormal_mitochondrial_morpho	1.15279426
57	MP0002557_abnormal_social/conspecific_i	1.13428250
58	MP0000026_abnormal_inner_ear	1.08641853
59	MP0005167_abnormal_blood-brain_barrier	1.08470016
60	MP0005085_abnormal_gallbladder_physiolo	1.07418623
61	MP0001905_abnormal_dopamine_level	1.07106359
62	MP0000427_abnormal_hair_cycle	1.06416318
63	MP0005195_abnormal_posterior_eye	1.06246124
64	MP0005423_abnormal_somatic_nervous	1.05755405
65	MP0005408_hypopigmentation	1.05740272
66	MP0010678_abnormal_skin_adnexa	1.04770068
67	MP0004270_analgesia	1.03900693
68	MP0008995_early_reproductive_senescence	1.03695943
69	MP0001970_abnormal_pain_threshold	1.02406669
70	MP0001968_abnormal_touch/_nociception	1.02306480
71	MP0002928_abnormal_bile_duct	1.02086182
72	MP0001963_abnormal_hearing_physiology	1.01520005
73	MP0005391_vision/eye_phenotype	1.01494758
74	MP0003119_abnormal_digestive_system	0.96818242
75	MP0003136_yellow_coat_color	0.96285554
76	MP0009053_abnormal_anal_canal	0.95652169
77	MP0001324_abnormal_eye_pigmentation	0.95530402
78	MP0000049_abnormal_middle_ear	0.95238879
79	MP0000566_synostosis	0.95201162
80	MP0001986_abnormal_taste_sensitivity	0.94672607
81	MP0003937_abnormal_limbs/digits/tail_de	0.94442862
82	MP0002734_abnormal_mechanical_nocicepti	0.89664963
83	MP0000647_abnormal_sebaceous_gland	0.89590407
84	MP0002752_abnormal_somatic_nervous	0.89025174
85	MP0002876_abnormal_thyroid_physiology	0.88553082
86	MP0009745_abnormal_behavioral_response	0.87900722
87	MP0002229_neurodegeneration	0.87768688
88	MP0003123_paternal_imprinting	0.87290718
89	MP0005187_abnormal_penis_morphology	0.84023147
90	MP0001764_abnormal_homeostasis	0.83129371
91	MP0003252_abnormal_bile_duct	0.80203095
92	MP0000537_abnormal_urethra_morphology	0.79283703
93	MP0006036_abnormal_mitochondrial_physio	0.78878568
94	MP0009697_abnormal_copulation	0.77966742
95	MP0003635_abnormal_synaptic_transmissio	0.76325220
96	MP0002067_abnormal_sensory_capabilities	0.75496157
97	MP0002733_abnormal_thermal_nociception	0.74243443
98	MP0005174_abnormal_tail_pigmentation	0.73856992
99	MP0000516_abnormal_urinary_system	0.73339873
100	MP0005367_renal/urinary_system_phenotyp	0.73339873

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoplasia of the fovea (HP:0007750)	3.48204205
2	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.48204205
3	Abnormality of the labia minora (HP:0012880)	3.44308367
4	Medial flaring of the eyebrow (HP:0010747)	3.40942963
5	Pendular nystagmus (HP:0012043)	3.28928563
6	Abnormality of the fovea (HP:0000493)	3.21802269
7	Gait imbalance (HP:0002141)	3.08144362
8	Failure to thrive in infancy (HP:0001531)	3.07714456
9	Congenital primary aphakia (HP:0007707)	3.04619169
10	Hypoproteinemia (HP:0003075)	2.98089326
11	Autoamputation (HP:0001218)	2.82736289
12	Hypoplasia of the capital femoral epiphysis (HP:0003090)	2.81407552
13	Abnormality of midbrain morphology (HP:0002418)	2.78152857
14	Molar tooth sign on MRI (HP:0002419)	2.78152857
15	Abnormal drinking behavior (HP:0030082)	2.75314237
16	Polydipsia (HP:0001959)	2.75314237
17	Aplastic anemia (HP:0001915)	2.73124794
18	Large for gestational age (HP:0001520)	2.66675626
19	Genital tract atresia (HP:0001827)	2.65861620
20	Acute necrotizing encephalopathy (HP:0006965)	2.63817412
21	3-Methylglutaconic aciduria (HP:0003535)	2.62291917
22	Methylmalonic acidemia (HP:0002912)	2.59262513
23	Renal Fanconi syndrome (HP:0001994)	2.58560246
24	Lipid accumulation in hepatocytes (HP:0006561)	2.57830244
25	Vaginal atresia (HP:0000148)	2.54363788
26	Oral leukoplakia (HP:0002745)	2.52691983
27	Abnormal mitochondria in muscle tissue (HP:0008316)	2.50307388
28	Increased corneal curvature (HP:0100692)	2.49740148
29	Keratoconus (HP:0000563)	2.49740148
30	Hyperinsulinemic hypoglycemia (HP:0000825)	2.49716600
31	Nephrogenic diabetes insipidus (HP:0009806)	2.47860387
32	Cerebellar dysplasia (HP:0007033)	2.44982220
33	Pancreatic fibrosis (HP:0100732)	2.42680650
34	Mitochondrial inheritance (HP:0001427)	2.41857998
35	Limb dystonia (HP:0002451)	2.40307538
36	Constricted visual fields (HP:0001133)	2.37818770
37	Type I diabetes mellitus (HP:0100651)	2.37354101
38	Abolished electroretinogram (ERG) (HP:0000550)	2.37158188
39	Hyperglycinuria (HP:0003108)	2.36905468
40	Nephronophthisis (HP:0000090)	2.36215904
41	True hermaphroditism (HP:0010459)	2.36148005
42	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.32928874
43	Abnormal protein N-linked glycosylation (HP:0012347)	2.32928874
44	Abnormal protein glycosylation (HP:0012346)	2.32928874
45	Abnormal glycosylation (HP:0012345)	2.32928874
46	Amblyopia (HP:0000646)	2.32176591
47	Increased hepatocellular lipid droplets (HP:0006565)	2.31832230
48	Pancreatic cysts (HP:0001737)	2.27673218
49	Neonatal respiratory distress (HP:0002643)	2.27610454
50	Acute encephalopathy (HP:0006846)	2.23969320
51	Septo-optic dysplasia (HP:0100842)	2.23894489
52	Hyperventilation (HP:0002883)	2.23744702
53	Methylmalonic aciduria (HP:0012120)	2.22533211
54	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	2.19862746
55	Absent epiphyses (HP:0010577)	2.19862746
56	Increased CSF lactate (HP:0002490)	2.19404145
57	Progressive cerebellar ataxia (HP:0002073)	2.17631025
58	Arthropathy (HP:0003040)	2.16002272
59	Cerebral edema (HP:0002181)	2.15324896
60	Ulnar claw (HP:0001178)	2.15181289
61	Progressive macrocephaly (HP:0004481)	2.14033138
62	Polyuria (HP:0000103)	2.13480636
63	Hyperglycinemia (HP:0002154)	2.13371989
64	Abnormality of glycine metabolism (HP:0010895)	2.12565037
65	Abnormality of serine family amino acid metabolism (HP:0010894)	2.12565037
66	Thyroid-stimulating hormone excess (HP:0002925)	2.07381494
67	Hypophosphatemic rickets (HP:0004912)	2.06474589
68	Esotropia (HP:0000565)	2.04404636
69	Type I transferrin isoform profile (HP:0003642)	2.03288859
70	Abnormality of the renal medulla (HP:0100957)	1.98876333
71	Narrow forehead (HP:0000341)	1.97354084
72	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.96554021
73	Hydroxyprolinuria (HP:0003080)	1.96184765
74	Abnormality of proline metabolism (HP:0010907)	1.96184765
75	Adrenal hypoplasia (HP:0000835)	1.94322222
76	Hypoplastic pelvis (HP:0008839)	1.94288322
77	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.93221572
78	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.93221572
79	Tubular atrophy (HP:0000092)	1.93077405
80	Chorioretinal atrophy (HP:0000533)	1.92475160
81	Abnormality of alanine metabolism (HP:0010916)	1.91337206
82	Hyperalaninemia (HP:0003348)	1.91337206
83	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.91337206
84	Optic nerve hypoplasia (HP:0000609)	1.89664588
85	Abnormality of placental membranes (HP:0011409)	1.88705332
86	Amniotic constriction ring (HP:0009775)	1.88705332
87	Rib fusion (HP:0000902)	1.88491306
88	Hypsarrhythmia (HP:0002521)	1.88080941
89	Postnatal microcephaly (HP:0005484)	1.83627649
90	Broad-based gait (HP:0002136)	1.82710669
91	Lethargy (HP:0001254)	1.81113270
92	EEG with generalized epileptiform discharges (HP:0011198)	1.80924031
93	Muscular hypotonia of the trunk (HP:0008936)	1.79548278
94	Azoospermia (HP:0000027)	1.79480631
95	Abnormality of the metopic suture (HP:0005556)	1.79144904
96	Hepatocellular necrosis (HP:0001404)	1.77137878
97	Epileptiform EEG discharges (HP:0011182)	1.76768851
98	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.76496920
99	Drooling (HP:0002307)	1.76042747
100	Increased serum lactate (HP:0002151)	1.75174877

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BRSK2	5.04235687
2	PBK	4.32913563
3	PINK1	3.31497723
4	WNK3	3.30147888
5	WEE1	2.98299695
6	VRK2	2.80699649
7	BRSK1	2.29894704
8	NUAK1	2.28677126
9	FRK	2.27374461
10	BMPR1B	2.22261023
11	MAP4K2	2.07541648
12	VRK1	2.01690440
13	SRPK1	2.01015992
14	MST4	1.90065059
15	ZAK	1.66427119
16	MARK1	1.62966764
17	PLK2	1.59130895
18	ADRBK2	1.57957596
19	CASK	1.55801947
20	NEK9	1.45952448
21	PLK3	1.44398281
22	MAP3K12	1.40795118
23	DYRK2	1.36374503
24	NME1	1.26671549
25	ACVR1B	1.24649795
26	EIF2AK3	1.21998289
27	PLK4	1.19048677
28	MAP3K4	1.17306885
29	PIM2	1.13034260
30	TNIK	1.12226004
31	PDK2	1.08638992
32	GRK1	1.07634354
33	PTK2B	1.06547712
34	MAPK13	1.03422056
35	PNCK	1.02402678
36	ARAF	1.02104287
37	DYRK3	1.00369972
38	TIE1	0.99248907
39	PRKCG	0.97745886
40	CSNK1G2	0.93537447
41	TRIM28	0.86479293
42	CSNK1G3	0.86366015
43	PAK3	0.85695710
44	LIMK1	0.85681258
45	STK39	0.84670226
46	STK3	0.84633649
47	PLK1	0.81817609
48	TESK1	0.80432635
49	CSNK1G1	0.78988423
50	BCR	0.77856830
51	BUB1	0.77015894
52	EPHA4	0.76489963
53	EPHB2	0.71586729
54	OXSR1	0.70361525
55	MINK1	0.67907110
56	CAMK2A	0.67198756
57	FGFR2	0.65422400
58	EIF2AK2	0.64030552
59	CSNK1A1	0.62430782
60	BCKDK	0.61635207
61	ERBB3	0.60691731
62	INSRR	0.60124459
63	PKN1	0.58921271
64	MYLK	0.58598701
65	UHMK1	0.58516284
66	MKNK2	0.58024142
67	YES1	0.57626358
68	PRKCE	0.56951702
69	STK10	0.56831863
70	PRKD3	0.56109171
71	EIF2AK1	0.53161928
72	ERBB4	0.52253007
73	PRKG1	0.51385743
74	ADRBK1	0.50224391
75	PRKCQ	0.50099052
76	ROCK1	0.49410254
77	TESK2	0.47809888
78	CHEK2	0.47754169
79	CCNB1	0.47483875
80	MAP2K7	0.45393102
81	AURKA	0.45175105
82	FER	0.45080786
83	SCYL2	0.43178359
84	ROCK2	0.41830687
85	KDR	0.41495663
86	CDK3	0.41219696
87	CAMKK2	0.40066824
88	NEK2	0.39833008
89	MAPKAPK3	0.39783595
90	TAOK1	0.38401962
91	MAP3K5	0.38074103
92	MUSK	0.35109130
93	STK11	0.34830994
94	IRAK2	0.34399818
95	CAMK2D	0.32662976
96	GRK5	0.32220158
97	MAP3K13	0.32086095
98	PRKCA	0.31985107
99	MOS	0.31868525
100	AURKB	0.29493338

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.22525328
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.22282778
3	Parkinsons disease_Homo sapiens_hsa05012	2.73125705
4	Steroid biosynthesis_Homo sapiens_hsa00100	2.72887367
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.58646004
6	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.53448198
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.44494791
8	RNA polymerase_Homo sapiens_hsa03020	2.44387632
9	Proteasome_Homo sapiens_hsa03050	2.31624592
10	Selenocompound metabolism_Homo sapiens_hsa00450	1.94002428
11	Regulation of autophagy_Homo sapiens_hsa04140	1.91900296
12	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.87230926
13	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.86542435
14	Huntingtons disease_Homo sapiens_hsa05016	1.81136539
15	Propanoate metabolism_Homo sapiens_hsa00640	1.79827726
16	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.78705866
17	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.78464364
18	Retinol metabolism_Homo sapiens_hsa00830	1.75871083
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.72219349
20	Alzheimers disease_Homo sapiens_hsa05010	1.69175802
21	Fatty acid degradation_Homo sapiens_hsa00071	1.68402554
22	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.61933900
23	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.60394665
24	Butanoate metabolism_Homo sapiens_hsa00650	1.59557882
25	Glutathione metabolism_Homo sapiens_hsa00480	1.56670048
26	Chemical carcinogenesis_Homo sapiens_hsa05204	1.54579463
27	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.50700521
28	Phototransduction_Homo sapiens_hsa04744	1.45179477
29	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.43373314
30	Fatty acid elongation_Homo sapiens_hsa00062	1.43077777
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.41956869
32	Tryptophan metabolism_Homo sapiens_hsa00380	1.40537397
33	Homologous recombination_Homo sapiens_hsa03440	1.30610491
34	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.30400819
35	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.29542087
36	Pyruvate metabolism_Homo sapiens_hsa00620	1.27319230
37	Peroxisome_Homo sapiens_hsa04146	1.26841632
38	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.24877708
39	Cardiac muscle contraction_Homo sapiens_hsa04260	1.22014857
40	Fat digestion and absorption_Homo sapiens_hsa04975	1.21311908
41	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.21106594
42	Collecting duct acid secretion_Homo sapiens_hsa04966	1.20600147
43	Basal transcription factors_Homo sapiens_hsa03022	1.17450796
44	Fanconi anemia pathway_Homo sapiens_hsa03460	1.17351262
45	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.08611920
46	Non-homologous end-joining_Homo sapiens_hsa03450	1.03140078
47	Linoleic acid metabolism_Homo sapiens_hsa00591	0.95914090
48	beta-Alanine metabolism_Homo sapiens_hsa00410	0.93682256
49	Nitrogen metabolism_Homo sapiens_hsa00910	0.92594441
50	Renin-angiotensin system_Homo sapiens_hsa04614	0.91382955
51	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.91293036
52	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.86012988
53	Sulfur metabolism_Homo sapiens_hsa00920	0.83921816
54	Taste transduction_Homo sapiens_hsa04742	0.83434542
55	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.83316915
56	Folate biosynthesis_Homo sapiens_hsa00790	0.83063235
57	Base excision repair_Homo sapiens_hsa03410	0.82967121
58	Insulin secretion_Homo sapiens_hsa04911	0.80493582
59	GABAergic synapse_Homo sapiens_hsa04727	0.80246913
60	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.80119241
61	Glycerolipid metabolism_Homo sapiens_hsa00561	0.76835810
62	Nicotine addiction_Homo sapiens_hsa05033	0.76346391
63	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.73948636
64	Oocyte meiosis_Homo sapiens_hsa04114	0.73339333
65	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.70383683
66	Metabolic pathways_Homo sapiens_hsa01100	0.69165323
67	Pyrimidine metabolism_Homo sapiens_hsa00240	0.66971517
68	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.65349983
69	RNA degradation_Homo sapiens_hsa03018	0.62959541
70	Nucleotide excision repair_Homo sapiens_hsa03420	0.61501468
71	Dopaminergic synapse_Homo sapiens_hsa04728	0.60613984
72	Primary immunodeficiency_Homo sapiens_hsa05340	0.58518162
73	Caffeine metabolism_Homo sapiens_hsa00232	0.57945635
74	Pancreatic secretion_Homo sapiens_hsa04972	0.54402995
75	Morphine addiction_Homo sapiens_hsa05032	0.53814037
76	PPAR signaling pathway_Homo sapiens_hsa03320	0.53364156
77	Serotonergic synapse_Homo sapiens_hsa04726	0.52646718
78	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.51142009
79	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.50312223
80	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.48681585
81	Purine metabolism_Homo sapiens_hsa00230	0.45540619
82	Vibrio cholerae infection_Homo sapiens_hsa05110	0.44886949
83	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.44584301
84	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.43378322
85	Glutamatergic synapse_Homo sapiens_hsa04724	0.43077302
86	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.41683206
87	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.39300311
88	RNA transport_Homo sapiens_hsa03013	0.38876103
89	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.38782215
90	Circadian entrainment_Homo sapiens_hsa04713	0.37807428
91	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.36291739
92	Histidine metabolism_Homo sapiens_hsa00340	0.35168710
93	Carbon metabolism_Homo sapiens_hsa01200	0.33783859
94	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.33730640
95	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.32865791
96	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.32756034
97	Ether lipid metabolism_Homo sapiens_hsa00565	0.32571219
98	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.31625434
99	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.29528945
100	Olfactory transduction_Homo sapiens_hsa04740	0.28790059

CYP51A1P2

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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