ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	glyoxylate metabolic process (GO:0046487)	7.40623386
2	aldehyde catabolic process (GO:0046185)	7.28063179
3	cerebral cortex neuron differentiation (GO:0021895)	5.90207563
4	radial glial cell differentiation (GO:0060019)	5.87256122
5	presynaptic membrane assembly (GO:0097105)	5.21020280
6	response to pheromone (GO:0019236)	4.93081500
7	olfactory bulb development (GO:0021772)	4.87166218
8	response to nitrosative stress (GO:0051409)	4.71086342
9	serine family amino acid biosynthetic process (GO:0009070)	4.40619526
10	brain morphogenesis (GO:0048854)	4.38884644
11	endothelial cell morphogenesis (GO:0001886)	4.37242403
12	glycine metabolic process (GO:0006544)	4.33024045
13	platelet dense granule organization (GO:0060155)	4.16829420
14	negative regulation of transcription regulatory region DNA binding (GO:2000678)	4.03095062
15	presynaptic membrane organization (GO:0097090)	3.98632960
16	histone H3-K4 trimethylation (GO:0080182)	3.97924964
17	negative regulation of astrocyte differentiation (GO:0048712)	3.96451131
18	protein polyglutamylation (GO:0018095)	3.94088878
19	cerebral cortex radially oriented cell migration (GO:0021799)	3.86864508
20	response to redox state (GO:0051775)	3.84452975
21	response to BMP (GO:0071772)	3.69291627
22	cellular response to BMP stimulus (GO:0071773)	3.69291627
23	isoprenoid biosynthetic process (GO:0008299)	3.69289824
24	sterol biosynthetic process (GO:0016126)	3.63370973
25	cholesterol biosynthetic process (GO:0006695)	3.62847516
26	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.54302730
27	regulation of growth hormone secretion (GO:0060123)	3.46938400
28	negative regulation of neurological system process (GO:0031645)	3.46357635
29	protein-chromophore linkage (GO:0018298)	3.36931265
30	protein K11-linked deubiquitination (GO:0035871)	3.34851517
31	anterograde synaptic vesicle transport (GO:0048490)	3.31176747
32	ventricular cardiac muscle cell development (GO:0055015)	3.25684335
33	cell proliferation in forebrain (GO:0021846)	3.19928725
34	sequestering of actin monomers (GO:0042989)	3.14547961
35	chondrocyte proliferation (GO:0035988)	3.10923026
36	serine family amino acid metabolic process (GO:0009069)	3.10684751
37	regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)	3.03411476
38	positive regulation of neuroblast proliferation (GO:0002052)	3.03243960
39	cerebral cortex cell migration (GO:0021795)	2.99517501
40	regulation of development, heterochronic (GO:0040034)	2.98681398
41	intraciliary transport (GO:0042073)	2.94950321
42	ventricular trabecula myocardium morphogenesis (GO:0003222)	2.92452622
43	ubiquinone metabolic process (GO:0006743)	2.91805865
44	mannosylation (GO:0097502)	2.91285370
45	negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)	2.89922111
46	somite development (GO:0061053)	2.87610018
47	histone H2A ubiquitination (GO:0033522)	2.83010266
48	prenylation (GO:0097354)	2.80761123
49	protein prenylation (GO:0018342)	2.80761123
50	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.78469475
51	serine family amino acid catabolic process (GO:0009071)	2.77740475
52	epithelial cilium movement (GO:0003351)	2.77427405
53	tryptophan catabolic process (GO:0006569)	2.72914520
54	indole-containing compound catabolic process (GO:0042436)	2.72914520
55	indolalkylamine catabolic process (GO:0046218)	2.72914520
56	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.70229455
57	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.69732656
58	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	2.69562999
59	proteasome assembly (GO:0043248)	2.68738759
60	interferon-gamma production (GO:0032609)	2.68640141
61	heart trabecula morphogenesis (GO:0061384)	2.67440489
62	neuron fate determination (GO:0048664)	2.65946283
63	regulation of dopamine secretion (GO:0014059)	2.65876295
64	fibroblast migration (GO:0010761)	2.65793213
65	dopamine transport (GO:0015872)	2.65611624
66	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	2.64503938
67	purine nucleobase biosynthetic process (GO:0009113)	2.62346706
68	organ induction (GO:0001759)	2.61959006
69	regulation of timing of cell differentiation (GO:0048505)	2.61538300
70	detection of light stimulus involved in visual perception (GO:0050908)	2.58688956
71	detection of light stimulus involved in sensory perception (GO:0050962)	2.58688956
72	generation of neurons (GO:0048699)	2.57000587
73	hair cell differentiation (GO:0035315)	2.56715824
74	regulation of feeding behavior (GO:0060259)	2.56334737
75	nuclear pore complex assembly (GO:0051292)	2.52825255
76	axoneme assembly (GO:0035082)	2.52483957
77	positive regulation of neurological system process (GO:0031646)	2.51172017
78	regulation of transcription regulatory region DNA binding (GO:2000677)	2.49945521
79	central nervous system neuron axonogenesis (GO:0021955)	2.49477165
80	anterograde axon cargo transport (GO:0008089)	2.49271458
81	positive regulation of male gonad development (GO:2000020)	2.48826132
82	smoothened signaling pathway (GO:0007224)	2.48586752
83	protein K63-linked ubiquitination (GO:0070534)	2.48516373
84	DNA damage response, detection of DNA damage (GO:0042769)	2.46109998
85	adult heart development (GO:0007512)	2.45768799
86	protein K6-linked ubiquitination (GO:0085020)	2.43871399
87	mesenchymal cell development (GO:0014031)	2.43829588
88	replication fork processing (GO:0031297)	2.42845898
89	regulation of cellular senescence (GO:2000772)	2.41892349
90	regulation of myelination (GO:0031641)	2.41546745
91	Notch signaling involved in heart development (GO:0061314)	2.41070426
92	ubiquinone biosynthetic process (GO:0006744)	2.40995612
93	cellular response to sterol (GO:0036315)	2.40219160
94	postsynaptic membrane organization (GO:0001941)	2.39654118
95	regulation of neuron projection regeneration (GO:0070570)	2.39576207
96	regulation of axon regeneration (GO:0048679)	2.39576207
97	cellular response to gonadotropin stimulus (GO:0071371)	2.38882807
98	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.38436233
99	ventricular septum morphogenesis (GO:0060412)	2.37231087
100	nuclear envelope reassembly (GO:0031468)	2.37155298

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.71197627
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.35972689
3	EZH2_22144423_ChIP-Seq_EOC_Human	4.03222017
4	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.86222249
5	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.40612132
6	TAF15_26573619_Chip-Seq_HEK293_Human	3.07540940
7	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.03451796
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.65372601
9	IRF1_19129219_ChIP-ChIP_H3396_Human	2.48310326
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.47284831
11	EWS_26573619_Chip-Seq_HEK293_Human	2.46154755
12	FUS_26573619_Chip-Seq_HEK293_Human	2.39444387
13	POU5F1_16153702_ChIP-ChIP_HESCs_Human	2.33773108
14	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.30550237
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.26564479
16	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.21076041
17	ELK1_19687146_ChIP-ChIP_HELA_Human	2.19323530
18	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.16750553
19	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	2.16658503
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.03378107
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.90445581
22	P300_19829295_ChIP-Seq_ESCs_Human	1.89948053
23	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.89926506
24	GBX2_23144817_ChIP-Seq_PC3_Human	1.84869624
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.76234865
26	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.65841419
27	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.65651132
28	RNF2_27304074_Chip-Seq_NSC_Mouse	1.61810376
29	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.61757572
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.58774178
31	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.57941737
32	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.55322266
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54266313
34	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.51372742
35	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.48469937
36	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.47495501
37	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.44325181
38	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43870997
39	TCF4_22108803_ChIP-Seq_LS180_Human	1.43513711
40	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.37338205
41	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.37270031
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.37270031
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.37132780
44	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.36068566
45	SOX9_26525672_Chip-Seq_HEART_Mouse	1.31412374
46	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31385516
47	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.30157564
48	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.30059269
49	MYC_18940864_ChIP-ChIP_HL60_Human	1.28036806
50	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.26211409
51	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26019100
52	RUNX2_22187159_ChIP-Seq_PCA_Human	1.25766945
53	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.23698452
54	BCAT_22108803_ChIP-Seq_LS180_Human	1.23695544
55	SMAD4_21799915_ChIP-Seq_A2780_Human	1.23420289
56	STAT3_23295773_ChIP-Seq_U87_Human	1.22982951
57	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.20541364
58	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.20100884
59	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.19712876
60	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.19588332
61	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.12615984
62	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.11217065
63	TP53_16413492_ChIP-PET_HCT116_Human	1.10968225
64	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.10277543
65	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.09344290
66	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.08168101
67	EGR1_19032775_ChIP-ChIP_M12_Human	1.07970976
68	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.07921676
69	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.07858091
70	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.07209607
71	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.07158877
72	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.05825072
73	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.04551152
74	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.03805311
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.02375990
76	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.02288202
77	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.02128046
78	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.01914469
79	GABP_19822575_ChIP-Seq_HepG2_Human	1.01673886
80	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.01430274
81	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.01379992
82	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01345029
83	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.99664018
84	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.98531189
85	TCF4_23295773_ChIP-Seq_U87_Human	0.96958227
86	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.95707713
87	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.94375762
88	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.93554238
89	AR_25329375_ChIP-Seq_VCAP_Human	0.92776800
90	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.91252820
91	VDR_23849224_ChIP-Seq_CD4+_Human	0.91121364
92	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.90511922
93	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.90497799
94	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.90401710
95	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.88932307
96	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.88848327
97	AR_20517297_ChIP-Seq_VCAP_Human	0.88000625
98	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.86395382
99	CDX2_22108803_ChIP-Seq_LS180_Human	0.86140037
100	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.86039563

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005503_abnormal_tendon_morphology	3.77629645
2	MP0003122_maternal_imprinting	3.36101723
3	MP0006054_spinal_hemorrhage	3.24014010
4	MP0006292_abnormal_olfactory_placode	3.15053798
5	MP0000566_synostosis	2.96836542
6	MP0003121_genomic_imprinting	2.94814975
7	MP0003195_calcinosis	2.93729832
8	MP0002102_abnormal_ear_morphology	2.70344456
9	MP0009697_abnormal_copulation	2.69415734
10	MP0003787_abnormal_imprinting	2.68749166
11	MP0005253_abnormal_eye_physiology	2.66204736
12	MP0008789_abnormal_olfactory_epithelium	2.64534787
13	MP0003011_delayed_dark_adaptation	2.24798960
14	MP0006072_abnormal_retinal_apoptosis	2.19203377
15	MP0010030_abnormal_orbit_morphology	2.18601273
16	MP0003880_abnormal_central_pattern	2.12413624
17	MP0002234_abnormal_pharynx_morphology	2.09711896
18	MP0000427_abnormal_hair_cycle	2.06177235
19	MP0000778_abnormal_nervous_system	2.02753363
20	MP0004133_heterotaxia	1.97412767
21	MP0005394_taste/olfaction_phenotype	1.90643418
22	MP0005499_abnormal_olfactory_system	1.90643418
23	MP0005451_abnormal_body_composition	1.87867315
24	MP0005248_abnormal_Harderian_gland	1.84657474
25	MP0005377_hearing/vestibular/ear_phenot	1.74575055
26	MP0003878_abnormal_ear_physiology	1.74575055
27	MP0003123_paternal_imprinting	1.70779203
28	MP0002938_white_spotting	1.67701123
29	MP0005551_abnormal_eye_electrophysiolog	1.65806435
30	MP0001293_anophthalmia	1.64089973
31	MP0009384_cardiac_valve_regurgitation	1.62010702
32	MP0003937_abnormal_limbs/digits/tail_de	1.59234530
33	MP0000631_abnormal_neuroendocrine_gland	1.58937681
34	MP0005408_hypopigmentation	1.58897199
35	MP0003385_abnormal_body_wall	1.58593127
36	MP0008995_early_reproductive_senescence	1.54409676
37	MP0005391_vision/eye_phenotype	1.51178854
38	MP0002751_abnormal_autonomic_nervous	1.44472352
39	MP0002557_abnormal_social/conspecific_i	1.44086877
40	MP0001299_abnormal_eye_distance/	1.35895709
41	MP0000049_abnormal_middle_ear	1.35105649
42	MP0009053_abnormal_anal_canal	1.28519331
43	MP0001984_abnormal_olfaction	1.25260152
44	MP0004885_abnormal_endolymph	1.22192469
45	MP0000462_abnormal_digestive_system	1.21636124
46	MP0002090_abnormal_vision	1.17512077
47	MP0002184_abnormal_innervation	1.12306029
48	MP0002108_abnormal_muscle_morphology	1.12140025
49	MP0001324_abnormal_eye_pigmentation	1.10725798
50	MP0005379_endocrine/exocrine_gland_phen	1.09502606
51	MP0003942_abnormal_urinary_system	1.09316217
52	MP0002233_abnormal_nose_morphology	1.08656859
53	MP0000647_abnormal_sebaceous_gland	1.08469807
54	MP0008058_abnormal_DNA_repair	1.08092794
55	MP0003755_abnormal_palate_morphology	1.02058092
56	MP0005187_abnormal_penis_morphology	1.01746857
57	MP0001529_abnormal_vocalization	1.01078844
58	MP0000613_abnormal_salivary_gland	1.00702118
59	MP0004883_abnormal_blood_vessel	1.00458367
60	MP0000639_abnormal_adrenal_gland	1.00117095
61	MP0002177_abnormal_outer_ear	0.99710779
62	MP0005195_abnormal_posterior_eye	0.99410685
63	MP0002752_abnormal_somatic_nervous	0.99291010
64	MP0005409_darkened_coat_color	0.98604402
65	MP0005508_abnormal_skeleton_morphology	0.97360340
66	MP0002168_other_aberrant_phenotype	0.93188667
67	MP0002736_abnormal_nociception_after	0.90171972
68	MP0004134_abnormal_chest_morphology	0.89325667
69	MP0001286_abnormal_eye_development	0.88068785
70	MP0001764_abnormal_homeostasis	0.85292318
71	MP0002092_abnormal_eye_morphology	0.83883187
72	MP0010094_abnormal_chromosome_stability	0.83303058
73	MP0010234_abnormal_vibrissa_follicle	0.83082296
74	MP0002098_abnormal_vibrissa_morphology	0.82546657
75	MP0002249_abnormal_larynx_morphology	0.79520424
76	MP0001727_abnormal_embryo_implantation	0.78354600
77	MP0003890_abnormal_embryonic-extraembry	0.77179268
78	MP0002009_preneoplasia	0.76322076
79	MP0002932_abnormal_joint_morphology	0.76027800
80	MP0005395_other_phenotype	0.75601751
81	MP0002254_reproductive_system_inflammat	0.74708817
82	MP0002109_abnormal_limb_morphology	0.74400602
83	MP0005646_abnormal_pituitary_gland	0.73904888
84	MP0001485_abnormal_pinna_reflex	0.70536430
85	MP0002697_abnormal_eye_size	0.70471123
86	MP0000428_abnormal_craniofacial_morphol	0.69571874
87	MP0006276_abnormal_autonomic_nervous	0.67854644
88	MP0003861_abnormal_nervous_system	0.67358078
89	MP0003119_abnormal_digestive_system	0.67253799
90	MP0001346_abnormal_lacrimal_gland	0.66091643
91	MP0003718_maternal_effect	0.64971809
92	MP0000163_abnormal_cartilage_morphology	0.64854840
93	MP0003938_abnormal_ear_development	0.64426976
94	MP0002111_abnormal_tail_morphology	0.64395048
95	MP0002116_abnormal_craniofacial_bone	0.63881503
96	MP0004147_increased_porphyrin_level	0.62506815
97	MP0002075_abnormal_coat/hair_pigmentati	0.61471253
98	MP0006035_abnormal_mitochondrial_morpho	0.60284793
99	MP0001348_abnormal_lacrimal_gland	0.59893908
100	MP0000534_abnormal_ureter_morphology	0.59314381

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperglycinemia (HP:0002154)	4.02472107
2	Supernumerary spleens (HP:0009799)	3.96618337
3	Increased corneal curvature (HP:0100692)	3.38904488
4	Keratoconus (HP:0000563)	3.38904488
5	Pancreatic cysts (HP:0001737)	3.29682293
6	Pancreatic fibrosis (HP:0100732)	3.24434088
7	True hermaphroditism (HP:0010459)	3.16547645
8	Postaxial foot polydactyly (HP:0001830)	3.09034383
9	Hepatoblastoma (HP:0002884)	3.01795309
10	Adrenal hypoplasia (HP:0000835)	2.99274157
11	Anterior segment dysgenesis (HP:0007700)	2.98401604
12	Tubulointerstitial nephritis (HP:0001970)	2.86310308
13	Pendular nystagmus (HP:0012043)	2.83592281
14	Hyperglycinuria (HP:0003108)	2.82608239
15	Preaxial hand polydactyly (HP:0001177)	2.73273128
16	Facial hemangioma (HP:0000329)	2.70007657
17	Decreased central vision (HP:0007663)	2.68343859
18	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.65439980
19	Median cleft lip (HP:0000161)	2.62475918
20	Coronal craniosynostosis (HP:0004440)	2.57098276
21	Anencephaly (HP:0002323)	2.54600628
22	Cystic liver disease (HP:0006706)	2.53068295
23	Asplenia (HP:0001746)	2.50327377
24	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	2.44661938
25	Short 4th metacarpal (HP:0010044)	2.44661938
26	Limb hypertonia (HP:0002509)	2.43483929
27	Abnormality of glycine metabolism (HP:0010895)	2.42918365
28	Abnormality of serine family amino acid metabolism (HP:0010894)	2.42918365
29	Postaxial hand polydactyly (HP:0001162)	2.41312258
30	Molar tooth sign on MRI (HP:0002419)	2.38598340
31	Abnormality of midbrain morphology (HP:0002418)	2.38598340
32	Acute encephalopathy (HP:0006846)	2.36236192
33	Preaxial foot polydactyly (HP:0001841)	2.35724854
34	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.35707433
35	Oligodactyly (HP:0012165)	2.35417292
36	Abnormality of the metopic suture (HP:0005556)	2.34678929
37	Intestinal atresia (HP:0011100)	2.32559451
38	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.29937392
39	Type II lissencephaly (HP:0007260)	2.29895329
40	Rib fusion (HP:0000902)	2.29187983
41	Nephronophthisis (HP:0000090)	2.21540454
42	Hemivertebrae (HP:0002937)	2.19364486
43	High anterior hairline (HP:0009890)	2.18600143
44	Broad alveolar ridges (HP:0000187)	2.17305928
45	Pancreatic islet-cell hyperplasia (HP:0004510)	2.15711965
46	Volvulus (HP:0002580)	2.12613356
47	Dyschromatopsia (HP:0007641)	2.11901120
48	Attenuation of retinal blood vessels (HP:0007843)	2.09022731
49	Prominent nasal bridge (HP:0000426)	2.06749947
50	Chin dimple (HP:0010751)	2.06551767
51	Sclerocornea (HP:0000647)	2.06037276
52	Renal dysplasia (HP:0000110)	2.05642082
53	Aqueductal stenosis (HP:0002410)	2.04772676
54	Colon cancer (HP:0003003)	2.04467828
55	Medial flaring of the eyebrow (HP:0010747)	2.03557114
56	Abnormality of the aortic arch (HP:0012303)	2.03036316
57	Congenital malformation of the right heart (HP:0011723)	2.02661029
58	Double outlet right ventricle (HP:0001719)	2.02661029
59	Congenital hepatic fibrosis (HP:0002612)	2.01316547
60	Tented upper lip vermilion (HP:0010804)	1.99993708
61	Abnormality of the antihelix (HP:0009738)	1.99753380
62	Congenital primary aphakia (HP:0007707)	1.99289301
63	Proximal placement of thumb (HP:0009623)	1.98857334
64	Furrowed tongue (HP:0000221)	1.98853752
65	Dandy-Walker malformation (HP:0001305)	1.98049109
66	Anal atresia (HP:0002023)	1.96341922
67	Rimmed vacuoles (HP:0003805)	1.95814366
68	Gait imbalance (HP:0002141)	1.91025502
69	Broad hallux (HP:0010055)	1.89565873
70	Chorioretinal atrophy (HP:0000533)	1.89280422
71	Renal hypoplasia (HP:0000089)	1.88471598
72	Abnormal number of incisors (HP:0011064)	1.85925742
73	Abnormality of the renal medulla (HP:0100957)	1.85579812
74	Abnormal biliary tract physiology (HP:0012439)	1.85120029
75	Bile duct proliferation (HP:0001408)	1.85120029
76	Down-sloping shoulders (HP:0200021)	1.84884541
77	Deviation of the thumb (HP:0009603)	1.84772913
78	Acute necrotizing encephalopathy (HP:0006965)	1.84643082
79	Tachypnea (HP:0002789)	1.84121727
80	Broad-based gait (HP:0002136)	1.83871005
81	Labial hypoplasia (HP:0000066)	1.83744281
82	Severe combined immunodeficiency (HP:0004430)	1.83645445
83	Increased circulating renin level (HP:0000848)	1.83468849
84	X-linked dominant inheritance (HP:0001423)	1.82191415
85	Occipital encephalocele (HP:0002085)	1.81153106
86	Bifid tongue (HP:0010297)	1.80504739
87	Severe global developmental delay (HP:0011344)	1.80369862
88	Cholecystitis (HP:0001082)	1.80029442
89	Abnormal gallbladder physiology (HP:0012438)	1.80029442
90	Chorioretinal coloboma (HP:0000567)	1.79114406
91	Narrow forehead (HP:0000341)	1.76194752
92	Broad toe (HP:0001837)	1.72217564
93	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.72193678
94	Abnormal rod and cone electroretinograms (HP:0008323)	1.71861477
95	Hypoplastic labia majora (HP:0000059)	1.71795782
96	Abnormality of the labia majora (HP:0012881)	1.71220387
97	Chronic hepatic failure (HP:0100626)	1.71218997
98	Abnormality of the 4th metacarpal (HP:0010012)	1.71181466
99	Decreased testicular size (HP:0008734)	1.70798499
100	Retinal dysplasia (HP:0007973)	1.70721748

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK3	4.10765799
2	MKNK2	3.76038425
3	MKNK1	3.42786934
4	EPHA4	3.42534702
5	EPHA3	3.27383859
6	EPHB2	2.90515199
7	PINK1	2.64559360
8	CASK	2.62809879
9	CDK19	2.51873474
10	TNIK	2.29461232
11	ZAK	2.28622080
12	DYRK2	1.95364103
13	YES1	1.94146705
14	FRK	1.83814847
15	TRIM28	1.81378107
16	MAP3K4	1.62545674
17	MAP4K2	1.60018099
18	BUB1	1.53714803
19	PLK4	1.50732348
20	NUAK1	1.44437936
21	DYRK3	1.40790393
22	RPS6KA4	1.38817661
23	MAPK13	1.37220351
24	GRK1	1.32762337
25	OXSR1	1.28121123
26	CSNK1G1	1.27663530
27	EIF2AK3	1.24324901
28	PLK2	1.16482122
29	PAK3	1.15975374
30	FER	1.13190917
31	MARK1	1.10471784
32	MAP2K7	1.09001123
33	STK16	1.07596090
34	PDK2	1.03554100
35	SRPK1	1.02916021
36	NLK	1.01440029
37	NME1	1.00030699
38	BMX	0.98130022
39	STK39	0.98020191
40	BCR	0.97175961
41	PLK3	0.94738308
42	ERBB3	0.90816594
43	PASK	0.85352390
44	NEK9	0.84564784
45	RAF1	0.83990341
46	ATR	0.83967197
47	CAMK4	0.83695058
48	CSNK1A1L	0.82438969
49	CSNK1G2	0.77450279
50	BMPR1B	0.76072162
51	IRAK1	0.75760042
52	CDK8	0.74443767
53	CSNK1G3	0.73438056
54	DYRK1A	0.71519241
55	PTK2B	0.69862145
56	RPS6KA5	0.65301826
57	CHEK2	0.65043678
58	CDC7	0.64214938
59	MINK1	0.63998730
60	PRKCG	0.62579617
61	LRRK2	0.60752561
62	CDK3	0.60662980
63	PAK6	0.60488875
64	PRKCE	0.59352789
65	TESK1	0.58887813
66	MAPK15	0.57349312
67	ROCK1	0.56355387
68	ROCK2	0.55819439
69	FGR	0.55593907
70	EIF2AK1	0.52894223
71	FGFR2	0.51725350
72	EPHB1	0.51483139
73	MAP3K12	0.48990018
74	PDGFRB	0.47507483
75	ADRBK2	0.45870666
76	FGFR1	0.45244071
77	KSR1	0.44933505
78	CDK7	0.44757655
79	PRKACA	0.44014336
80	INSRR	0.43469288
81	TYRO3	0.43457487
82	ACVR1B	0.43352872
83	TIE1	0.42156300
84	AKT2	0.41909228
85	CSNK1A1	0.40631139
86	PRKDC	0.38820489
87	CAMK1	0.38798962
88	MAP2K4	0.38566358
89	OBSCN	0.38226579
90	STK4	0.37718239
91	BMPR2	0.37042896
92	FGFR4	0.35187659
93	ERBB2	0.35043894
94	RET	0.34107485
95	PIK3CA	0.32430253
96	CDK5	0.32383907
97	BCKDK	0.30822627
98	BRD4	0.29147996
99	MAP3K7	0.29015854
100	GSK3A	0.28621146

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.11170167
2	Steroid biosynthesis_Homo sapiens_hsa00100	3.71440235
3	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	3.62051987
4	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	3.28363097
5	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	3.07220069
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.89818442
7	Proteasome_Homo sapiens_hsa03050	2.71592809
8	Cysteine and methionine metabolism_Homo sapiens_hsa00270	2.55913929
9	Non-homologous end-joining_Homo sapiens_hsa03450	2.47573749
10	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.47277287
11	RNA polymerase_Homo sapiens_hsa03020	2.33370671
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.23538303
13	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	2.20959108
14	Propanoate metabolism_Homo sapiens_hsa00640	2.06681895
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.86854314
16	Protein export_Homo sapiens_hsa03060	1.73986377
17	mRNA surveillance pathway_Homo sapiens_hsa03015	1.68700840
18	RNA transport_Homo sapiens_hsa03013	1.63646150
19	Phototransduction_Homo sapiens_hsa04744	1.61275161
20	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.60712826
21	RNA degradation_Homo sapiens_hsa03018	1.56877782
22	Folate biosynthesis_Homo sapiens_hsa00790	1.53400391
23	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.49265626
24	Fatty acid elongation_Homo sapiens_hsa00062	1.45886190
25	Spliceosome_Homo sapiens_hsa03040	1.33467129
26	Butanoate metabolism_Homo sapiens_hsa00650	1.32182029
27	Fatty acid metabolism_Homo sapiens_hsa01212	1.28960170
28	Nitrogen metabolism_Homo sapiens_hsa00910	1.28779567
29	Base excision repair_Homo sapiens_hsa03410	1.25349430
30	Fanconi anemia pathway_Homo sapiens_hsa03460	1.20661578
31	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.16379095
32	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.16129067
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.03114907
34	Homologous recombination_Homo sapiens_hsa03440	1.02532457
35	Parkinsons disease_Homo sapiens_hsa05012	1.02319483
36	Arginine and proline metabolism_Homo sapiens_hsa00330	0.98862400
37	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.98225210
38	Adherens junction_Homo sapiens_hsa04520	0.96908201
39	Purine metabolism_Homo sapiens_hsa00230	0.93509489
40	DNA replication_Homo sapiens_hsa03030	0.91357199
41	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.91134974
42	Basal cell carcinoma_Homo sapiens_hsa05217	0.90536230
43	Huntingtons disease_Homo sapiens_hsa05016	0.90172572
44	Pyrimidine metabolism_Homo sapiens_hsa00240	0.86259868
45	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.85761902
46	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.84897801
47	Circadian rhythm_Homo sapiens_hsa04710	0.84528634
48	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.81942578
49	Oxidative phosphorylation_Homo sapiens_hsa00190	0.79308873
50	Sulfur relay system_Homo sapiens_hsa04122	0.77621984
51	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.77505019
52	Carbon metabolism_Homo sapiens_hsa01200	0.77055732
53	Mismatch repair_Homo sapiens_hsa03430	0.76120450
54	Peroxisome_Homo sapiens_hsa04146	0.73618908
55	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.73392846
56	Insulin secretion_Homo sapiens_hsa04911	0.72481907
57	Basal transcription factors_Homo sapiens_hsa03022	0.71965019
58	Fatty acid degradation_Homo sapiens_hsa00071	0.68485622
59	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.66264855
60	Cell cycle_Homo sapiens_hsa04110	0.63869928
61	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.63631224
62	Retinol metabolism_Homo sapiens_hsa00830	0.62033123
63	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.62006637
64	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.59948752
65	Metabolic pathways_Homo sapiens_hsa01100	0.58206622
66	Axon guidance_Homo sapiens_hsa04360	0.57845875
67	Olfactory transduction_Homo sapiens_hsa04740	0.55521204
68	Serotonergic synapse_Homo sapiens_hsa04726	0.54905122
69	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.54477940
70	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.52912948
71	Wnt signaling pathway_Homo sapiens_hsa04310	0.52818934
72	Glutathione metabolism_Homo sapiens_hsa00480	0.52488368
73	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.51037802
74	Bile secretion_Homo sapiens_hsa04976	0.50964968
75	Pyruvate metabolism_Homo sapiens_hsa00620	0.50840565
76	Alzheimers disease_Homo sapiens_hsa05010	0.48552216
77	Cocaine addiction_Homo sapiens_hsa05030	0.48224775
78	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.47510284
79	Oocyte meiosis_Homo sapiens_hsa04114	0.46479511
80	Nucleotide excision repair_Homo sapiens_hsa03420	0.46440633
81	FoxO signaling pathway_Homo sapiens_hsa04068	0.43660309
82	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.43004003
83	Regulation of autophagy_Homo sapiens_hsa04140	0.41524557
84	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.40968538
85	Dopaminergic synapse_Homo sapiens_hsa04728	0.40737879
86	Hippo signaling pathway_Homo sapiens_hsa04390	0.34841497
87	p53 signaling pathway_Homo sapiens_hsa04115	0.32700270
88	Tyrosine metabolism_Homo sapiens_hsa00350	0.32239917
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.31890225
90	Cardiac muscle contraction_Homo sapiens_hsa04260	0.30962278
91	Phenylalanine metabolism_Homo sapiens_hsa00360	0.28865000
92	Chemical carcinogenesis_Homo sapiens_hsa05204	0.27985541
93	Complement and coagulation cascades_Homo sapiens_hsa04610	0.26673449
94	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.26223964
95	Linoleic acid metabolism_Homo sapiens_hsa00591	0.25513352
96	Thyroid cancer_Homo sapiens_hsa05216	0.24664283
97	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.23177518
98	Tryptophan metabolism_Homo sapiens_hsa00380	0.22268532
99	Primary immunodeficiency_Homo sapiens_hsa05340	0.20829795
100	Ether lipid metabolism_Homo sapiens_hsa00565	0.20777576

POLR2KP1

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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