ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tachykinin receptor signaling pathway (GO:0007217)	5.42038371
2	protein polyglutamylation (GO:0018095)	4.94135623
3	pyrimidine nucleobase catabolic process (GO:0006208)	4.83540263
4	regulation of cilium movement (GO:0003352)	4.78511398
5	behavioral response to nicotine (GO:0035095)	4.70256281
6	short-term memory (GO:0007614)	4.50933362
7	response to pheromone (GO:0019236)	4.11749315
8	protein neddylation (GO:0045116)	3.92335723
9	regulation of microtubule-based movement (GO:0060632)	3.89182818
10	response to gravity (GO:0009629)	3.69219126
11	ribosomal small subunit assembly (GO:0000028)	3.68980125
12	nucleobase catabolic process (GO:0046113)	3.68195903
13	chaperone-mediated protein transport (GO:0072321)	3.64469677
14	regulation of feeding behavior (GO:0060259)	3.59263850
15	establishment of mitochondrion localization (GO:0051654)	3.56550851
16	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.51524176
17	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.43387779
18	behavioral response to ethanol (GO:0048149)	3.42378136
19	embryonic retina morphogenesis in camera-type eye (GO:0060059)	3.41909327
20	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	3.31857497
21	mitochondrion transport along microtubule (GO:0047497)	3.31857497
22	negative regulation of appetite (GO:0032099)	3.29931061
23	negative regulation of response to food (GO:0032096)	3.29931061
24	positive regulation of gastrulation (GO:2000543)	3.27766641
25	nonmotile primary cilium assembly (GO:0035058)	3.27419671
26	protein complex biogenesis (GO:0070271)	3.21340857
27	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.19409654
28	spinal cord association neuron differentiation (GO:0021527)	3.19222343
29	forebrain neuron differentiation (GO:0021879)	3.18751828
30	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.17251027
31	NADH dehydrogenase complex assembly (GO:0010257)	3.17251027
32	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.17251027
33	axonemal dynein complex assembly (GO:0070286)	3.04652211
34	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.03198773
35	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.03198773
36	regulation of bile acid biosynthetic process (GO:0070857)	2.98642029
37	neuronal stem cell maintenance (GO:0097150)	2.97560474
38	drinking behavior (GO:0042756)	2.96821905
39	intraciliary transport (GO:0042073)	2.93794781
40	regulation of sarcomere organization (GO:0060297)	2.92856208
41	sperm motility (GO:0030317)	2.92247120
42	mitochondrial respiratory chain complex assembly (GO:0033108)	2.86432843
43	somite rostral/caudal axis specification (GO:0032525)	2.86312255
44	dentate gyrus development (GO:0021542)	2.84127225
45	water-soluble vitamin biosynthetic process (GO:0042364)	2.82624320
46	fusion of sperm to egg plasma membrane (GO:0007342)	2.79429186
47	cell proliferation in forebrain (GO:0021846)	2.77908273
48	regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	2.70831754
49	regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	2.70831754
50	synaptic transmission, dopaminergic (GO:0001963)	2.70315407
51	detection of light stimulus involved in sensory perception (GO:0050962)	2.69220635
52	detection of light stimulus involved in visual perception (GO:0050908)	2.69220635
53	head development (GO:0060322)	2.65668705
54	neurofilament cytoskeleton organization (GO:0060052)	2.65496275
55	cell migration in hindbrain (GO:0021535)	2.64273231
56	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.63021874
57	substrate-independent telencephalic tangential migration (GO:0021826)	2.63021874
58	single strand break repair (GO:0000012)	2.62380688
59	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.60577638
60	axon ensheathment in central nervous system (GO:0032291)	2.59707315
61	central nervous system myelination (GO:0022010)	2.59707315
62	adaptation of signaling pathway (GO:0023058)	2.58140818
63	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.56934742
64	behavioral response to cocaine (GO:0048148)	2.56502480
65	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.56434223
66	cell differentiation in spinal cord (GO:0021515)	2.55859807
67	retinal ganglion cell axon guidance (GO:0031290)	2.54672296
68	piRNA metabolic process (GO:0034587)	2.50788263
69	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.50698904
70	genetic imprinting (GO:0071514)	2.49729627
71	epithelial cilium movement (GO:0003351)	2.49303974
72	pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)	2.48742007
73	UMP metabolic process (GO:0046049)	2.48742007
74	pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)	2.48742007
75	UMP biosynthetic process (GO:0006222)	2.48742007
76	snRNA transcription (GO:0009301)	2.48405026
77	acrosome reaction (GO:0007340)	2.46525677
78	aldehyde catabolic process (GO:0046185)	2.46425183
79	seminiferous tubule development (GO:0072520)	2.45526826
80	iron coordination entity transport (GO:1901678)	2.45333928
81	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	2.44882433
82	otic vesicle formation (GO:0030916)	2.44713108
83	synaptic transmission, cholinergic (GO:0007271)	2.44587832
84	nucleotide salvage (GO:0043173)	2.43094982
85	cerebral cortex radially oriented cell migration (GO:0021799)	2.42743234
86	postsynaptic membrane organization (GO:0001941)	2.41782968
87	neuronal action potential propagation (GO:0019227)	2.40681291
88	DNA deamination (GO:0045006)	2.40266611
89	chemosensory behavior (GO:0007635)	2.40080061
90	cerebellar granule cell differentiation (GO:0021707)	2.38822252
91	pyrimidine-containing compound salvage (GO:0008655)	2.38022611
92	pyrimidine nucleoside salvage (GO:0043097)	2.38022611
93	viral transcription (GO:0019083)	2.36178801
94	translational termination (GO:0006415)	2.35021574
95	axonal fasciculation (GO:0007413)	2.34721652
96	photoreceptor cell maintenance (GO:0045494)	2.33650769
97	regulation of appetite (GO:0032098)	2.32553116
98	response to phenylpropanoid (GO:0080184)	2.31939319
99	regulation of synaptic transmission, dopaminergic (GO:0032225)	2.30824082
100	axoneme assembly (GO:0035082)	2.30727933

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	6.19906185
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.61615298
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.17714669
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.85012079
5	BP1_19119308_ChIP-ChIP_Hs578T_Human	2.83695565
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.68877868
7	VDR_22108803_ChIP-Seq_LS180_Human	2.58212723
8	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.28125038
9	ZNF274_21170338_ChIP-Seq_K562_Hela	2.28011019
10	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.26014292
11	REST_21632747_ChIP-Seq_MESCs_Mouse	2.25583557
12	IRF1_19129219_ChIP-ChIP_H3396_Human	2.18676196
13	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.15770110
14	RNF2_27304074_Chip-Seq_NSC_Mouse	2.14518046
15	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.09609998
16	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.92174593
17	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.88148961
18	GBX2_23144817_ChIP-Seq_PC3_Human	1.86259866
19	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.85981719
20	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.84528265
21	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.82528151
22	IGF1R_20145208_ChIP-Seq_DFB_Human	1.80459917
23	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.79324499
24	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.71078797
25	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.69138136
26	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67170038
27	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.66856704
28	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.66332465
29	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.65695105
30	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.62240249
31	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.52469573
32	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.51564479
33	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.51564479
34	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.50740690
35	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.50235872
36	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.45060742
37	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.45060742
38	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.38762062
39	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.38489815
40	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.38322217
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.33505139
42	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.31879653
43	NCOR_22424771_ChIP-Seq_293T_Human	1.31459986
44	CTCF_27219007_Chip-Seq_Bcells_Human	1.30068983
45	ERA_21632823_ChIP-Seq_H3396_Human	1.29077036
46	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.27833846
47	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.27764497
48	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.25534675
49	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.24576431
50	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.22958721
51	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.16254379
52	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.14729343
53	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14137446
54	P300_19829295_ChIP-Seq_ESCs_Human	1.13468508
55	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.13173140
56	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.13032380
57	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.11879330
58	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.11205403
59	FUS_26573619_Chip-Seq_HEK293_Human	1.10619601
60	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.10438951
61	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.09613908
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.09588910
63	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.08853137
64	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.08191074
65	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	1.07742801
66	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.07444425
67	CBP_20019798_ChIP-Seq_JUKART_Human	1.07014671
68	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.07014671
69	EWS_26573619_Chip-Seq_HEK293_Human	1.06759832
70	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.05304780
71	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.04302535
72	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.03627074
73	NANOG_20526341_ChIP-Seq_ESCs_Human	1.03288010
74	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.01044937
75	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.00567711
76	OCT4_20526341_ChIP-Seq_ESCs_Human	0.99693873
77	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.98206385
78	ER_23166858_ChIP-Seq_MCF-7_Human	0.96304233
79	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.95061549
80	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.94882635
81	AR_25329375_ChIP-Seq_VCAP_Human	0.94653491
82	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.94339585
83	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.93857279
84	TAF15_26573619_Chip-Seq_HEK293_Human	0.93849553
85	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.93801850
86	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.93746785
87	P53_21459846_ChIP-Seq_SAOS-2_Human	0.93544082
88	CTCF_20526341_ChIP-Seq_ESCs_Human	0.92071895
89	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.91902445
90	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.89653938
91	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	0.87521792
92	SETDB1_19884257_ChIP-Seq_MESCs_Mouse	0.87484984
93	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.87206730
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.87005855
95	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.86615775
96	TAF2_19829295_ChIP-Seq_ESCs_Human	0.86184552
97	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.85522037
98	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.84075544
99	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.83806620
100	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.83584448

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003787_abnormal_imprinting	4.31192580
2	MP0003123_paternal_imprinting	3.22668511
3	MP0002653_abnormal_ependyma_morphology	2.96116193
4	MP0005423_abnormal_somatic_nervous	2.82480596
5	MP0003121_genomic_imprinting	2.70083262
6	MP0006292_abnormal_olfactory_placode	2.39713637
7	MP0002163_abnormal_gland_morphology	2.30147895
8	MP0003122_maternal_imprinting	2.25443149
9	MP0001529_abnormal_vocalization	2.10118804
10	MP0006276_abnormal_autonomic_nervous	2.09759597
11	MP0005084_abnormal_gallbladder_morpholo	2.01690692
12	MP0001188_hyperpigmentation	1.96200236
13	MP0005551_abnormal_eye_electrophysiolog	1.93347843
14	MP0004142_abnormal_muscle_tone	1.92438890
15	MP0005377_hearing/vestibular/ear_phenot	1.91396991
16	MP0003878_abnormal_ear_physiology	1.91396991
17	MP0003136_yellow_coat_color	1.90287929
18	MP0008877_abnormal_DNA_methylation	1.88260699
19	MP0004133_heterotaxia	1.86489426
20	MP0001968_abnormal_touch/_nociception	1.82469434
21	MP0002822_catalepsy	1.80413766
22	MP0003890_abnormal_embryonic-extraembry	1.78804634
23	MP0008995_early_reproductive_senescence	1.78203641
24	MP0002102_abnormal_ear_morphology	1.77291152
25	MP0009379_abnormal_foot_pigmentation	1.76296164
26	MP0001905_abnormal_dopamine_level	1.75925007
27	MP0008789_abnormal_olfactory_epithelium	1.73312647
28	MP0001986_abnormal_taste_sensitivity	1.72490156
29	MP0003011_delayed_dark_adaptation	1.71698946
30	MP0003880_abnormal_central_pattern	1.62009907
31	MP0005646_abnormal_pituitary_gland	1.60123053
32	MP0000631_abnormal_neuroendocrine_gland	1.55036671
33	MP0000778_abnormal_nervous_system	1.54473472
34	MP0004742_abnormal_vestibular_system	1.53182526
35	MP0004859_abnormal_synaptic_plasticity	1.53132264
36	MP0002272_abnormal_nervous_system	1.53082201
37	MP0009745_abnormal_behavioral_response	1.52417271
38	MP0005394_taste/olfaction_phenotype	1.52092893
39	MP0005499_abnormal_olfactory_system	1.52092893
40	MP0001486_abnormal_startle_reflex	1.51383604
41	MP0002572_abnormal_emotion/affect_behav	1.47490407
42	MP0005410_abnormal_fertilization	1.44332312
43	MP0000955_abnormal_spinal_cord	1.42832249
44	MP0005379_endocrine/exocrine_gland_phen	1.42341576
45	MP0001485_abnormal_pinna_reflex	1.41805320
46	MP0002063_abnormal_learning/memory/cond	1.41182078
47	MP0003635_abnormal_synaptic_transmissio	1.41010855
48	MP0002184_abnormal_innervation	1.37894038
49	MP0005645_abnormal_hypothalamus_physiol	1.37038878
50	MP0002736_abnormal_nociception_after	1.32313675
51	MP0002837_dystrophic_cardiac_calcinosis	1.31756837
52	MP0000566_synostosis	1.31385817
53	MP0002557_abnormal_social/conspecific_i	1.29734554
54	MP0005083_abnormal_biliary_tract	1.29532346
55	MP0004145_abnormal_muscle_electrophysio	1.28600869
56	MP0004147_increased_porphyrin_level	1.26564491
57	MP0002928_abnormal_bile_duct	1.26220542
58	MP0002752_abnormal_somatic_nervous	1.24247838
59	MP0003942_abnormal_urinary_system	1.21968582
60	MP0002876_abnormal_thyroid_physiology	1.19047548
61	MP0002735_abnormal_chemical_nociception	1.14382832
62	MP0001542_abnormal_bone_strength	1.13326674
63	MP0001984_abnormal_olfaction	1.09944700
64	MP0002733_abnormal_thermal_nociception	1.08987432
65	MP0000026_abnormal_inner_ear	1.08155723
66	MP0001970_abnormal_pain_threshold	1.07667688
67	MP0002882_abnormal_neuron_morphology	1.05719849
68	MP0008872_abnormal_physiological_respon	1.04016349
69	MP0000049_abnormal_middle_ear	1.03472601
70	MP0002160_abnormal_reproductive_system	1.02648292
71	MP0010368_abnormal_lymphatic_system	1.02593911
72	MP0001440_abnormal_grooming_behavior	1.02275549
73	MP0004885_abnormal_endolymph	1.02107054
74	MP0004924_abnormal_behavior	1.02082449
75	MP0005386_behavior/neurological_phenoty	1.02082449
76	MP0003698_abnormal_male_reproductive	1.02046274
77	MP0005220_abnormal_exocrine_pancreas	1.01984795
78	MP0002734_abnormal_mechanical_nocicepti	1.00732233
79	MP0003195_calcinosis	0.99712755
80	MP0002067_abnormal_sensory_capabilities	0.98296004
81	MP0003943_abnormal_hepatobiliary_system	0.98205838
82	MP0004134_abnormal_chest_morphology	0.97598938
83	MP0002064_seizures	0.97077657
84	MP0001963_abnormal_hearing_physiology	0.95868737
85	MP0005195_abnormal_posterior_eye	0.91822900
86	MP0003879_abnormal_hair_cell	0.91815315
87	MP0004185_abnormal_adipocyte_glucose	0.87725997
88	MP0003938_abnormal_ear_development	0.85724673
89	MP0002138_abnormal_hepatobiliary_system	0.84342248
90	MP0005253_abnormal_eye_physiology	0.82920812
91	MP0001293_anophthalmia	0.81991269
92	MP0002751_abnormal_autonomic_nervous	0.81242847
93	MP0002210_abnormal_sex_determination	0.80398840
94	MP0004811_abnormal_neuron_physiology	0.79731529
95	MP0002229_neurodegeneration	0.79382058
96	MP0002638_abnormal_pupillary_reflex	0.77706048
97	MP0003718_maternal_effect	0.76875301
98	MP0002152_abnormal_brain_morphology	0.76808307
99	MP0003937_abnormal_limbs/digits/tail_de	0.74847327
100	MP0000639_abnormal_adrenal_gland	0.73635891

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Myokymia (HP:0002411)	4.59817676
2	Pancreatic fibrosis (HP:0100732)	3.89872705
3	True hermaphroditism (HP:0010459)	3.76522490
4	Abnormality of midbrain morphology (HP:0002418)	3.71279842
5	Molar tooth sign on MRI (HP:0002419)	3.71279842
6	Pancreatic cysts (HP:0001737)	3.60503696
7	Renal Fanconi syndrome (HP:0001994)	3.59782159
8	Nephronophthisis (HP:0000090)	3.57064506
9	Medial flaring of the eyebrow (HP:0010747)	3.41972393
10	Gait imbalance (HP:0002141)	3.33307316
11	Nephrogenic diabetes insipidus (HP:0009806)	3.03626930
12	Congenital primary aphakia (HP:0007707)	2.98214163
13	Chronic hepatic failure (HP:0100626)	2.96872379
14	Abnormality of the renal medulla (HP:0100957)	2.92229378
15	Polyphagia (HP:0002591)	2.91262421
16	Abnormal pancreas size (HP:0012094)	2.89903656
17	Abnormality of renal resorption (HP:0011038)	2.83230753
18	Increased hepatocellular lipid droplets (HP:0006565)	2.74881131
19	Rib fusion (HP:0000902)	2.71698561
20	Metaphyseal dysplasia (HP:0100255)	2.71163586
21	Sclerocornea (HP:0000647)	2.69857719
22	Cystic liver disease (HP:0006706)	2.68195136
23	Acute necrotizing encephalopathy (HP:0006965)	2.66468637
24	Lipid accumulation in hepatocytes (HP:0006561)	2.66119458
25	Abnormal rod and cone electroretinograms (HP:0008323)	2.65874848
26	Limb dystonia (HP:0002451)	2.56841306
27	Anencephaly (HP:0002323)	2.56622489
28	Abnormal mitochondria in muscle tissue (HP:0008316)	2.55171902
29	Occipital encephalocele (HP:0002085)	2.54359193
30	Adrenal hypoplasia (HP:0000835)	2.51909273
31	Diastasis recti (HP:0001540)	2.51580569
32	Abolished electroretinogram (ERG) (HP:0000550)	2.48643189
33	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.48558821
34	Failure to thrive in infancy (HP:0001531)	2.44097595
35	Hyperglycinemia (HP:0002154)	2.40775501
36	Glycosuria (HP:0003076)	2.40687970
37	Abnormality of urine glucose concentration (HP:0011016)	2.40687970
38	Genital tract atresia (HP:0001827)	2.40336143
39	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.40278633
40	Vaginal atresia (HP:0000148)	2.36725721
41	Septo-optic dysplasia (HP:0100842)	2.35614495
42	Acute encephalopathy (HP:0006846)	2.35534974
43	Asplenia (HP:0001746)	2.35332853
44	Mitochondrial inheritance (HP:0001427)	2.34959341
45	Polydipsia (HP:0001959)	2.33934506
46	Abnormal drinking behavior (HP:0030082)	2.33934506
47	Congenital stationary night blindness (HP:0007642)	2.33923517
48	Reticulocytopenia (HP:0001896)	2.30647341
49	Poor coordination (HP:0002370)	2.29581105
50	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.28938272
51	Progressive cerebellar ataxia (HP:0002073)	2.28829749
52	Increased CSF lactate (HP:0002490)	2.26246345
53	Abnormality of alanine metabolism (HP:0010916)	2.26172441
54	Hyperalaninemia (HP:0003348)	2.26172441
55	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.26172441
56	Increased intramyocellular lipid droplets (HP:0012240)	2.19201821
57	Methylmalonic aciduria (HP:0012120)	2.16094049
58	Abnormal respiratory motile cilium morphology (HP:0005938)	2.15938479
59	Abnormal respiratory epithelium morphology (HP:0012253)	2.15938479
60	Generalized aminoaciduria (HP:0002909)	2.15744480
61	Delayed CNS myelination (HP:0002188)	2.15387338
62	Pendular nystagmus (HP:0012043)	2.13404214
63	Abnormality of cells of the erythroid lineage (HP:0012130)	2.12220124
64	Male pseudohermaphroditism (HP:0000037)	2.10705894
65	Congenital hepatic fibrosis (HP:0002612)	2.09153434
66	Optic disc pallor (HP:0000543)	2.08999690
67	Type II lissencephaly (HP:0007260)	2.05131888
68	Methylmalonic acidemia (HP:0002912)	2.01726415
69	Attenuation of retinal blood vessels (HP:0007843)	2.00525363
70	Postaxial foot polydactyly (HP:0001830)	1.99808405
71	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.99642690
72	Progressive macrocephaly (HP:0004481)	1.98378552
73	Bony spicule pigmentary retinopathy (HP:0007737)	1.98366179
74	Abnormal number of erythroid precursors (HP:0012131)	1.96202538
75	Abnormal respiratory motile cilium physiology (HP:0012261)	1.94721254
76	Hypogonadotrophic hypogonadism (HP:0000044)	1.94249007
77	Hyperthyroidism (HP:0000836)	1.92220278
78	Specific learning disability (HP:0001328)	1.91927105
79	Abnormality of the labia minora (HP:0012880)	1.88544622
80	Narrow forehead (HP:0000341)	1.87873466
81	Acute lymphatic leukemia (HP:0006721)	1.86600412
82	Preaxial hand polydactyly (HP:0001177)	1.86070774
83	Abnormality of the renal cortex (HP:0011035)	1.86030117
84	CNS hypomyelination (HP:0003429)	1.85246597
85	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.85116759
86	Thyroid-stimulating hormone excess (HP:0002925)	1.84466986
87	Retinitis pigmentosa (HP:0000510)	1.83507103
88	Pachygyria (HP:0001302)	1.82610070
89	Enlarged kidneys (HP:0000105)	1.80992725
90	Abnormality of DNA repair (HP:0003254)	1.80556864
91	Cerebral hypomyelination (HP:0006808)	1.79862174
92	Increased muscle lipid content (HP:0009058)	1.79855281
93	Hyperphosphaturia (HP:0003109)	1.77892025
94	Postaxial hand polydactyly (HP:0001162)	1.77438210
95	Polyuria (HP:0000103)	1.74523314
96	Prominent nasal bridge (HP:0000426)	1.73727943
97	Renal cortical cysts (HP:0000803)	1.72598039
98	Recurrent corneal erosions (HP:0000495)	1.72146512
99	Retinal dysplasia (HP:0007973)	1.71519173
100	Decreased testicular size (HP:0008734)	1.71037006

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	3.55477237
2	BCKDK	3.28107964
3	ZAK	3.07731855
4	CASK	2.67779368
5	MARK1	2.66609670
6	TLK1	2.57859095
7	WNK3	2.56600648
8	DYRK2	2.52965690
9	WNK4	2.43936817
10	NTRK3	2.18887735
11	NTRK2	2.06580242
12	PHKG2	2.04171219
13	PHKG1	2.04171219
14	ADRBK2	1.97245336
15	MINK1	1.95583184
16	MAPK13	1.70888087
17	SIK2	1.70801093
18	NUAK1	1.65975173
19	TAOK3	1.48658855
20	GRK1	1.47970239
21	STK16	1.45215162
22	PRKG2	1.41668170
23	PRKCG	1.36717119
24	PLK4	1.30353195
25	FLT3	1.29011472
26	FES	1.28989199
27	MUSK	1.27922325
28	DYRK3	1.25114854
29	INSRR	1.20396934
30	CDK19	1.19586291
31	TYRO3	1.19382535
32	PRKCQ	1.16136424
33	PBK	1.15654639
34	PDK2	1.15237126
35	DAPK2	1.11925988
36	NME1	1.08108923
37	BMPR1B	1.06912706
38	CSNK1G2	1.05311396
39	MAP3K4	1.04106665
40	FRK	0.99977026
41	MAP2K7	0.99367232
42	NEK2	0.98108732
43	PAK3	0.96474627
44	LMTK2	0.94144594
45	TNIK	0.91399448
46	OXSR1	0.91259779
47	MAP4K2	0.90733900
48	ADRBK1	0.87156147
49	KIT	0.84969068
50	CSNK1G3	0.84831049
51	MARK2	0.84620857
52	CAMK1	0.82848271
53	ACVR1B	0.82762042
54	STK39	0.82036577
55	EPHB2	0.81734556
56	PKN1	0.79286507
57	TEC	0.71549626
58	STK11	0.70652625
59	PRKACA	0.68003028
60	CDK5	0.65677625
61	PNCK	0.64921873
62	MAP2K4	0.64803341
63	DYRK1A	0.64448249
64	TNK2	0.62148634
65	CSNK1A1	0.61209844
66	TIE1	0.60873453
67	CSNK1G1	0.57882592
68	PRKCZ	0.56519580
69	ARAF	0.56011284
70	CAMK2A	0.53910741
71	CSNK1E	0.53123992
72	PRKCI	0.52502463
73	RPS6KA2	0.51438891
74	SGK223	0.51058097
75	SGK494	0.51058097
76	PRKCA	0.48275439
77	DYRK1B	0.47631358
78	AURKA	0.45904287
79	BCR	0.45838068
80	PRKAA1	0.45270132
81	PRKCE	0.45071305
82	PRKD3	0.44859160
83	PRKCH	0.44241598
84	MAP2K6	0.43868948
85	PRKCD	0.41816863
86	RPS6KA5	0.41755858
87	TXK	0.40459671
88	CSF1R	0.40062324
89	MAP3K9	0.39143960
90	MAPK15	0.38997709
91	ILK	0.38699146
92	ABL2	0.38660224
93	SGK1	0.37712900
94	WNK1	0.37547362
95	CAMKK1	0.37333262
96	CSNK1D	0.36653347
97	PRKG1	0.36175531
98	ITK	0.35717580
99	CDC7	0.35580093
100	LRRK2	0.34179704

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.32997817
2	Ribosome_Homo sapiens_hsa03010	3.07457640
3	Parkinsons disease_Homo sapiens_hsa05012	3.01126260
4	Nicotine addiction_Homo sapiens_hsa05033	2.51222275
5	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.34082516
6	Phototransduction_Homo sapiens_hsa04744	2.22295664
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.20952318
8	Steroid biosynthesis_Homo sapiens_hsa00100	2.19347200
9	Selenocompound metabolism_Homo sapiens_hsa00450	2.08943313
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.04893070
11	Cardiac muscle contraction_Homo sapiens_hsa04260	1.99661475
12	Alzheimers disease_Homo sapiens_hsa05010	1.89713939
13	Huntingtons disease_Homo sapiens_hsa05016	1.89085678
14	Sulfur relay system_Homo sapiens_hsa04122	1.79193996
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.72626158
16	Morphine addiction_Homo sapiens_hsa05032	1.69142137
17	RNA polymerase_Homo sapiens_hsa03020	1.60842884
18	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.53809993
19	Olfactory transduction_Homo sapiens_hsa04740	1.52252122
20	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.52215958
21	Circadian entrainment_Homo sapiens_hsa04713	1.52090419
22	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.52065711
23	Protein export_Homo sapiens_hsa03060	1.49046437
24	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.39704669
25	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.38060985
26	GABAergic synapse_Homo sapiens_hsa04727	1.36286776
27	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.35628040
28	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.35313287
29	Fanconi anemia pathway_Homo sapiens_hsa03460	1.31735825
30	Dopaminergic synapse_Homo sapiens_hsa04728	1.31434724
31	Glutamatergic synapse_Homo sapiens_hsa04724	1.29534153
32	Peroxisome_Homo sapiens_hsa04146	1.29533895
33	Long-term depression_Homo sapiens_hsa04730	1.26325563
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.25721721
35	Propanoate metabolism_Homo sapiens_hsa00640	1.24953009
36	Collecting duct acid secretion_Homo sapiens_hsa04966	1.24592682
37	Butanoate metabolism_Homo sapiens_hsa00650	1.21925076
38	Serotonergic synapse_Homo sapiens_hsa04726	1.19261520
39	One carbon pool by folate_Homo sapiens_hsa00670	1.11517408
40	RNA degradation_Homo sapiens_hsa03018	1.10299649
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.09927623
42	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.09778296
43	Pyrimidine metabolism_Homo sapiens_hsa00240	1.08337901
44	Fat digestion and absorption_Homo sapiens_hsa04975	1.06980250
45	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.05846148
46	Insulin secretion_Homo sapiens_hsa04911	1.01737826
47	Cocaine addiction_Homo sapiens_hsa05030	1.01699297
48	Basal transcription factors_Homo sapiens_hsa03022	1.01084405
49	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.97976592
50	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.96618319
51	Nitrogen metabolism_Homo sapiens_hsa00910	0.96144167
52	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.95471418
53	Regulation of autophagy_Homo sapiens_hsa04140	0.94062208
54	Proteasome_Homo sapiens_hsa03050	0.88260693
55	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.86897520
56	Metabolic pathways_Homo sapiens_hsa01100	0.86645971
57	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.85797551
58	Homologous recombination_Homo sapiens_hsa03440	0.85639924
59	Taste transduction_Homo sapiens_hsa04742	0.84935436
60	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.84497501
61	Amphetamine addiction_Homo sapiens_hsa05031	0.83024842
62	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.82999593
63	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.82745772
64	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82530194
65	Axon guidance_Homo sapiens_hsa04360	0.80114070
66	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.79828094
67	Ether lipid metabolism_Homo sapiens_hsa00565	0.79267484
68	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.77803962
69	Retinol metabolism_Homo sapiens_hsa00830	0.77412461
70	Purine metabolism_Homo sapiens_hsa00230	0.76561273
71	Cholinergic synapse_Homo sapiens_hsa04725	0.76257490
72	Gap junction_Homo sapiens_hsa04540	0.75094690
73	Folate biosynthesis_Homo sapiens_hsa00790	0.73922658
74	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.73689717
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.72690075
76	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.72408498
77	Tryptophan metabolism_Homo sapiens_hsa00380	0.69886120
78	Chemical carcinogenesis_Homo sapiens_hsa05204	0.67425492
79	Salivary secretion_Homo sapiens_hsa04970	0.64923897
80	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.64400608
81	Basal cell carcinoma_Homo sapiens_hsa05217	0.63566909
82	Base excision repair_Homo sapiens_hsa03410	0.56690266
83	Fatty acid metabolism_Homo sapiens_hsa01212	0.55486976
84	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.54989273
85	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.54900278
86	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.52190403
87	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.51550638
88	Renin secretion_Homo sapiens_hsa04924	0.49742136
89	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.48405301
90	beta-Alanine metabolism_Homo sapiens_hsa00410	0.47078091
91	Arginine and proline metabolism_Homo sapiens_hsa00330	0.46942447
92	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.46196532
93	Glycerolipid metabolism_Homo sapiens_hsa00561	0.44261266
94	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.43953713
95	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.42249954
96	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.41046667
97	MAPK signaling pathway_Homo sapiens_hsa04010	0.40690779
98	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.40531855
99	Sulfur metabolism_Homo sapiens_hsa00920	0.37391356
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.36493055

BCRP3

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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