ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axonemal dynein complex assembly (GO:0070286)	6.51765329
2	epithelial cilium movement (GO:0003351)	5.89453791
3	cilium movement (GO:0003341)	5.47421457
4	motile cilium assembly (GO:0044458)	5.27593670
5	amyloid precursor protein catabolic process (GO:0042987)	4.78381322
6	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.54291456
7	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.44746402
8	base-excision repair, AP site formation (GO:0006285)	4.31400609
9	neuron fate determination (GO:0048664)	3.99115315
10	cilium or flagellum-dependent cell motility (GO:0001539)	3.77011791
11	pyrimidine nucleotide catabolic process (GO:0006244)	3.63006509
12	microtubule depolymerization (GO:0007019)	3.59058391
13	sequestering of actin monomers (GO:0042989)	3.57904332
14	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.49887307
15	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.49469830
16	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.38571824
17	axoneme assembly (GO:0035082)	3.34462037
18	protein complex biogenesis (GO:0070271)	3.32316706
19	artery smooth muscle contraction (GO:0014824)	3.23621202
20	centriole replication (GO:0007099)	3.22872734
21	ATP synthesis coupled proton transport (GO:0015986)	3.19817735
22	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.19817735
23	sulfation (GO:0051923)	3.16263923
24	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.11827116
25	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.11827116
26	NADH dehydrogenase complex assembly (GO:0010257)	3.11827116
27	exocrine pancreas development (GO:0031017)	3.04608302
28	mitochondrial respiratory chain complex assembly (GO:0033108)	3.02558228
29	amyloid precursor protein metabolic process (GO:0042982)	2.98733215
30	electron transport chain (GO:0022900)	2.94988465
31	water-soluble vitamin biosynthetic process (GO:0042364)	2.93610175
32	ribosomal small subunit assembly (GO:0000028)	2.93496197
33	regulation of cilium movement (GO:0003352)	2.93446159
34	dorsal/ventral neural tube patterning (GO:0021904)	2.92446183
35	left/right pattern formation (GO:0060972)	2.92137045
36	respiratory electron transport chain (GO:0022904)	2.91883301
37	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.91069446
38	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.91069446
39	intraciliary transport (GO:0042073)	2.91066280
40	vascular smooth muscle contraction (GO:0014829)	2.90274545
41	chaperone-mediated protein complex assembly (GO:0051131)	2.88887778
42	regulation of mitochondrial translation (GO:0070129)	2.85897596
43	GTP biosynthetic process (GO:0006183)	2.73828469
44	amino-acid betaine metabolic process (GO:0006577)	2.71868602
45	regulation of cell-cell adhesion mediated by cadherin (GO:2000047)	2.70172307
46	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.69639725
47	regulation of cholesterol biosynthetic process (GO:0045540)	2.68830857
48	membrane repolarization (GO:0086009)	2.68335703
49	regulation of helicase activity (GO:0051095)	2.67454730
50	behavioral response to cocaine (GO:0048148)	2.66792166
51	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.62573178
52	regulation of cardioblast proliferation (GO:0003264)	2.62573178
53	cilium organization (GO:0044782)	2.60052381
54	cilium assembly (GO:0042384)	2.60025920
55	centriole assembly (GO:0098534)	2.55978140
56	neuronal stem cell maintenance (GO:0097150)	2.55032880
57	base-excision repair (GO:0006284)	2.54566369
58	establishment of integrated proviral latency (GO:0075713)	2.51700818
59	negative regulation of cell aging (GO:0090344)	2.50083354
60	ectodermal placode formation (GO:0060788)	2.49802387
61	L-serine metabolic process (GO:0006563)	2.49370493
62	tonic smooth muscle contraction (GO:0014820)	2.49279705
63	nonmotile primary cilium assembly (GO:0035058)	2.48875334
64	hepatocyte differentiation (GO:0070365)	2.47795516
65	microtubule polymerization or depolymerization (GO:0031109)	2.47314926
66	nucleoside diphosphate phosphorylation (GO:0006165)	2.46690397
67	cranial nerve development (GO:0021545)	2.41749730
68	potassium ion export (GO:0071435)	2.40396389
69	CTP biosynthetic process (GO:0006241)	2.36062128
70	CTP metabolic process (GO:0046036)	2.36062128
71	negative regulation of cell fate specification (GO:0009996)	2.36021573
72	UTP biosynthetic process (GO:0006228)	2.33627360
73	negative regulation of cell fate commitment (GO:0010454)	2.32348902
74	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.31992260
75	positive regulation of embryonic development (GO:0040019)	2.31911250
76	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.30615766
77	chaperone-mediated protein transport (GO:0072321)	2.29670752
78	thalamus development (GO:0021794)	2.29408199
79	viral transcription (GO:0019083)	2.28133124
80	neuron fate specification (GO:0048665)	2.27258504
81	translational termination (GO:0006415)	2.26758837
82	protein K6-linked ubiquitination (GO:0085020)	2.22953851
83	keratinocyte proliferation (GO:0043616)	2.22371654
84	regulation of branching involved in prostate gland morphogenesis (GO:0060687)	2.21460832
85	organelle disassembly (GO:1903008)	2.21403574
86	negative regulation of JUN kinase activity (GO:0043508)	2.19392289
87	regulation of DNA endoreduplication (GO:0032875)	2.19198240
88	DNA damage response, detection of DNA damage (GO:0042769)	2.17467315
89	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.17034704
90	serine family amino acid biosynthetic process (GO:0009070)	2.16999034
91	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.16964276
92	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.16555124
93	cotranslational protein targeting to membrane (GO:0006613)	2.14858527
94	regulation of mesenchymal cell apoptotic process (GO:2001053)	2.14728558
95	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	2.13832126
96	protein targeting to ER (GO:0045047)	2.13466296
97	UTP metabolic process (GO:0046051)	2.13460962
98	ventricular system development (GO:0021591)	2.12155613
99	chromatin remodeling at centromere (GO:0031055)	2.12040338
100	purine nucleoside bisphosphate metabolic process (GO:0034032)	2.12003284

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.73257552
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.67207080
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.64964848
4	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.51217410
5	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.41442357
6	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.38516398
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.35750058
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.31185807
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.27879043
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.27785542
11	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.22066757
12	SOX2_18555785_ChIP-Seq_MESCs_Mouse	2.05815597
13	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.03816706
14	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.97656412
15	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.90092384
16	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.89740061
17	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.79856322
18	XRN2_22483619_ChIP-Seq_HELA_Human	1.79784847
19	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.79123992
20	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.76497341
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.71097019
22	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.70692654
23	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.69987174
24	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.68353584
25	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.68303278
26	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.67802746
27	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.66938391
28	TTF2_22483619_ChIP-Seq_HELA_Human	1.64998776
29	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.63482320
30	HTT_18923047_ChIP-ChIP_STHdh_Human	1.62468482
31	GABP_19822575_ChIP-Seq_HepG2_Human	1.60691868
32	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.59668432
33	DCP1A_22483619_ChIP-Seq_HELA_Human	1.59277938
34	IRF1_19129219_ChIP-ChIP_H3396_Human	1.58424972
35	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.57643879
36	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.56574366
37	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.56361317
38	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.54691222
39	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.54641676
40	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.52137917
41	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.50974121
42	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.48180758
43	MYC_18940864_ChIP-ChIP_HL60_Human	1.47862855
44	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.47517149
45	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.46952689
46	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.45792576
47	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.44348187
48	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.41798320
49	VDR_22108803_ChIP-Seq_LS180_Human	1.41150132
50	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.36509520
51	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.34321876
52	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.33684178
53	ZNF263_19887448_ChIP-Seq_K562_Human	1.32911752
54	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.32711415
55	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.28330052
56	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.27892304
57	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.25900776
58	RNF2_27304074_Chip-Seq_NSC_Mouse	1.24251304
59	ZNF274_21170338_ChIP-Seq_K562_Hela	1.19943678
60	IGF1R_20145208_ChIP-Seq_DFB_Human	1.16673629
61	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.15642728
62	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.15257966
63	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.12674288
64	KDM5A_27292631_Chip-Seq_BREAST_Human	1.11315220
65	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.11055891
66	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.09947836
67	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.09325908
68	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.06675409
69	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	1.05455562
70	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.05454161
71	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.05259197
72	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.03391152
73	VDR_23849224_ChIP-Seq_CD4+_Human	1.02242737
74	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.01991725
75	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.01871807
76	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.99279767
77	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.98505161
78	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.97806922
79	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.97659748
80	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.96275119
81	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	0.96013789
82	ELK1_19687146_ChIP-ChIP_HELA_Human	0.95249838
83	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.94373504
84	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.94294250
85	CTCF_18555785_ChIP-Seq_MESCs_Mouse	0.92369577
86	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.91351822
87	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	0.90946256
88	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	0.90726713
89	FUS_26573619_Chip-Seq_HEK293_Human	0.90533811
90	AR_21909140_ChIP-Seq_LNCAP_Human	0.89716432
91	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.89194139
92	NANOG_18555785_ChIP-Seq_MESCs_Mouse	0.88885665
93	EWS_26573619_Chip-Seq_HEK293_Human	0.88783857
94	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.88478110
95	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.87024247
96	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.86460168
97	FOXP3_21729870_ChIP-Seq_TREG_Human	0.85678234
98	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.85503077
99	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.84867715
100	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.83502025

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	5.95032356
2	MP0000566_synostosis	3.35246326
3	MP0010030_abnormal_orbit_morphology	3.08878047
4	MP0010234_abnormal_vibrissa_follicle	2.83648248
5	MP0002653_abnormal_ependyma_morphology	2.80038104
6	MP0002234_abnormal_pharynx_morphology	2.40687990
7	MP0002249_abnormal_larynx_morphology	2.31046743
8	MP0001293_anophthalmia	2.01409435
9	MP0001529_abnormal_vocalization	1.75887320
10	MP0008789_abnormal_olfactory_epithelium	1.72400541
11	MP0003283_abnormal_digestive_organ	1.62439757
12	MP0005499_abnormal_olfactory_system	1.58738207
13	MP0005394_taste/olfaction_phenotype	1.58738207
14	MP0000631_abnormal_neuroendocrine_gland	1.58030590
15	MP0005085_abnormal_gallbladder_physiolo	1.57337485
16	MP0002277_abnormal_respiratory_mucosa	1.55539770
17	MP0001984_abnormal_olfaction	1.50143775
18	MP0000049_abnormal_middle_ear	1.48242143
19	MP0005187_abnormal_penis_morphology	1.47483845
20	MP0008875_abnormal_xenobiotic_pharmacok	1.47479049
21	MP0003693_abnormal_embryo_hatching	1.46691910
22	MP0002233_abnormal_nose_morphology	1.46684279
23	MP0003937_abnormal_limbs/digits/tail_de	1.44332472
24	MP0003122_maternal_imprinting	1.42027384
25	MP0006292_abnormal_olfactory_placode	1.40977855
26	MP0004019_abnormal_vitamin_homeostasis	1.39915249
27	MP0002796_impaired_skin_barrier	1.39072315
28	MP0002139_abnormal_hepatobiliary_system	1.38316199
29	MP0002697_abnormal_eye_size	1.38107735
30	MP0008932_abnormal_embryonic_tissue	1.33878492
31	MP0004133_heterotaxia	1.32100855
32	MP0005084_abnormal_gallbladder_morpholo	1.31786654
33	MP0009379_abnormal_foot_pigmentation	1.31393886
34	MP0002282_abnormal_trachea_morphology	1.30235738
35	MP0002938_white_spotting	1.24764977
36	MP0008877_abnormal_DNA_methylation	1.22581261
37	MP0002160_abnormal_reproductive_system	1.20324376
38	MP0003718_maternal_effect	1.19544736
39	MP0010678_abnormal_skin_adnexa	1.18144008
40	MP0000467_abnormal_esophagus_morphology	1.17769390
41	MP0005220_abnormal_exocrine_pancreas	1.17329662
42	MP0003315_abnormal_perineum_morphology	1.17157534
43	MP0001286_abnormal_eye_development	1.14970808
44	MP0001666_abnormal_nutrient_absorption	1.12038259
45	MP0001485_abnormal_pinna_reflex	1.11723299
46	MP0000762_abnormal_tongue_morphology	1.11091008
47	MP0005171_absent_coat_pigmentation	1.09619599
48	MP0000026_abnormal_inner_ear	1.09263379
49	MP0005365_abnormal_bile_salt	1.09172423
50	MP0001764_abnormal_homeostasis	1.07472030
51	MP0000778_abnormal_nervous_system	1.07146430
52	MP0002098_abnormal_vibrissa_morphology	1.06149581
53	MP0005501_abnormal_skin_physiology	1.05592362
54	MP0008058_abnormal_DNA_repair	1.04138096
55	MP0003890_abnormal_embryonic-extraembry	1.03902720
56	MP0003119_abnormal_digestive_system	1.03535697
57	MP0010386_abnormal_urinary_bladder	1.03194921
58	MP0003186_abnormal_redox_activity	1.02645550
59	MP0003786_premature_aging	1.01308886
60	MP0003941_abnormal_skin_development	0.98116779
61	MP0001664_abnormal_digestion	0.97942555
62	MP0006072_abnormal_retinal_apoptosis	0.96284983
63	MP0003787_abnormal_imprinting	0.96015176
64	MP0003195_calcinosis	0.95566464
65	MP0002210_abnormal_sex_determination	0.95166983
66	MP0003938_abnormal_ear_development	0.94004701
67	MP0003121_genomic_imprinting	0.93999225
68	MP0005377_hearing/vestibular/ear_phenot	0.93575429
69	MP0003878_abnormal_ear_physiology	0.93575429
70	MP0003755_abnormal_palate_morphology	0.93441336
71	MP0000383_abnormal_hair_follicle	0.91714951
72	MP0001944_abnormal_pancreas_morphology	0.91694420
73	MP0002111_abnormal_tail_morphology	0.89497842
74	MP0001929_abnormal_gametogenesis	0.89364989
75	MP0002932_abnormal_joint_morphology	0.89187604
76	MP0002102_abnormal_ear_morphology	0.88495763
77	MP0010094_abnormal_chromosome_stability	0.88059845
78	MP0004957_abnormal_blastocyst_morpholog	0.86940658
79	MP0001145_abnormal_male_reproductive	0.85734474
80	MP0002876_abnormal_thyroid_physiology	0.84939775
81	MP0002092_abnormal_eye_morphology	0.84909636
82	MP0003698_abnormal_male_reproductive	0.84551628
83	MP0005391_vision/eye_phenotype	0.83407105
84	MP0005389_reproductive_system_phenotype	0.83218918
85	MP0001919_abnormal_reproductive_system	0.81478674
86	MP0003861_abnormal_nervous_system	0.80883700
87	MP0000678_abnormal_parathyroid_gland	0.80578433
88	MP0000537_abnormal_urethra_morphology	0.79666611
89	MP0005248_abnormal_Harderian_gland	0.79387317
90	MP0000653_abnormal_sex_gland	0.78504210
91	MP0003077_abnormal_cell_cycle	0.77257950
92	MP0005253_abnormal_eye_physiology	0.76948754
93	MP0002084_abnormal_developmental_patter	0.76516282
94	MP0000538_abnormal_urinary_bladder	0.76201704
95	MP0002085_abnormal_embryonic_tissue	0.74332512
96	MP0000955_abnormal_spinal_cord	0.73829686
97	MP0005332_abnormal_amino_acid	0.73577131
98	MP0002751_abnormal_autonomic_nervous	0.71637414
99	MP0002638_abnormal_pupillary_reflex	0.71031993
100	MP0005195_abnormal_posterior_eye	0.69881491

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.22991582
2	Abnormal respiratory motile cilium physiology (HP:0012261)	5.51457731
3	Abnormal ciliary motility (HP:0012262)	4.85739714
4	Abnormal respiratory epithelium morphology (HP:0012253)	4.81003642
5	Abnormal respiratory motile cilium morphology (HP:0005938)	4.81003642
6	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.77555254
7	Absent/shortened dynein arms (HP:0200106)	4.77555254
8	Rhinitis (HP:0012384)	4.43758054
9	Chronic bronchitis (HP:0004469)	4.33085697
10	Concave nail (HP:0001598)	3.34494234
11	True hermaphroditism (HP:0010459)	3.19503356
12	Maternal diabetes (HP:0009800)	3.13769941
13	Septo-optic dysplasia (HP:0100842)	3.12449202
14	Bronchiectasis (HP:0002110)	3.11999158
15	Sclerocornea (HP:0000647)	3.01332546
16	Acute encephalopathy (HP:0006846)	2.91858864
17	Acute necrotizing encephalopathy (HP:0006965)	2.86330541
18	Pancreatic fibrosis (HP:0100732)	2.84902266
19	Nasal polyposis (HP:0100582)	2.77668855
20	Abnormal mitochondria in muscle tissue (HP:0008316)	2.77092229
21	Congenital malformation of the right heart (HP:0011723)	2.75909070
22	Double outlet right ventricle (HP:0001719)	2.75909070
23	Pancreatic cysts (HP:0001737)	2.69919955
24	Molar tooth sign on MRI (HP:0002419)	2.68367354
25	Abnormality of midbrain morphology (HP:0002418)	2.68367354
26	Esophageal atresia (HP:0002032)	2.55442579
27	Median cleft lip (HP:0000161)	2.52244547
28	Occipital encephalocele (HP:0002085)	2.49979101
29	Rib fusion (HP:0000902)	2.49377972
30	Anophthalmia (HP:0000528)	2.45059921
31	Infertility (HP:0000789)	2.43375887
32	Mitochondrial inheritance (HP:0001427)	2.40832380
33	Absent septum pellucidum (HP:0001331)	2.36546896
34	Abnormal number of incisors (HP:0011064)	2.35556397
35	Tubular atrophy (HP:0000092)	2.35493837
36	Chronic hepatic failure (HP:0100626)	2.29423454
37	Anencephaly (HP:0002323)	2.28203582
38	Progressive macrocephaly (HP:0004481)	2.28178856
39	Lipid accumulation in hepatocytes (HP:0006561)	2.28152182
40	Hyperglycinemia (HP:0002154)	2.27863344
41	Cystic liver disease (HP:0006706)	2.27469714
42	Preaxial hand polydactyly (HP:0001177)	2.24027727
43	Optic nerve hypoplasia (HP:0000609)	2.23541587
44	Medial flaring of the eyebrow (HP:0010747)	2.22742117
45	Cerebral edema (HP:0002181)	2.21819319
46	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.15943716
47	Supernumerary spleens (HP:0009799)	2.14578185
48	Increased hepatocellular lipid droplets (HP:0006565)	2.14200214
49	Hyperphosphaturia (HP:0003109)	2.12343985
50	Hypoplastic pelvis (HP:0008839)	2.08639644
51	Aplasia/hypoplasia of the uterus (HP:0008684)	2.05438431
52	Bile duct proliferation (HP:0001408)	2.03379188
53	Abnormal biliary tract physiology (HP:0012439)	2.03379188
54	Renal Fanconi syndrome (HP:0001994)	1.99076511
55	Nephronophthisis (HP:0000090)	1.97379635
56	Increased CSF lactate (HP:0002490)	1.96900076
57	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.96280007
58	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.96280007
59	Optic nerve coloboma (HP:0000588)	1.95643796
60	Postaxial hand polydactyly (HP:0001162)	1.95013177
61	Postaxial foot polydactyly (HP:0001830)	1.94392366
62	Abnormality of abdominal situs (HP:0011620)	1.93725104
63	Abdominal situs inversus (HP:0003363)	1.93725104
64	Abnormality of renal resorption (HP:0011038)	1.92422225
65	Hemivertebrae (HP:0002937)	1.91845442
66	Hepatocellular necrosis (HP:0001404)	1.90612548
67	Abnormality of the septum pellucidum (HP:0007375)	1.89907763
68	Gait imbalance (HP:0002141)	1.89136098
69	Congenital primary aphakia (HP:0007707)	1.87452524
70	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.85406132
71	Abnormal ventriculo-arterial connection (HP:0011563)	1.85387672
72	Transposition of the great arteries (HP:0001669)	1.85387672
73	Abnormal connection of the cardiac segments (HP:0011545)	1.85387672
74	Male pseudohermaphroditism (HP:0000037)	1.83942184
75	Abnormality of the nasal mucosa (HP:0000433)	1.80869481
76	Abnormal urine phosphate concentration (HP:0012599)	1.79122202
77	Glycosuria (HP:0003076)	1.77849769
78	Abnormality of urine glucose concentration (HP:0011016)	1.77849769
79	Increased serum pyruvate (HP:0003542)	1.74906596
80	Hepatic necrosis (HP:0002605)	1.74898637
81	Nephrogenic diabetes insipidus (HP:0009806)	1.73350797
82	Furrowed tongue (HP:0000221)	1.71605439
83	Hypoplasia of the uterus (HP:0000013)	1.70818785
84	Vascular calcification (HP:0004934)	1.69922615
85	Atelectasis (HP:0100750)	1.69833882
86	Large for gestational age (HP:0001520)	1.69452917
87	Progressive cerebellar ataxia (HP:0002073)	1.68728841
88	Abnormality of permanent molar morphology (HP:0011071)	1.68728740
89	Abnormality of the dental root (HP:0006486)	1.68728740
90	Taurodontia (HP:0000679)	1.68728740
91	Congenital hepatic fibrosis (HP:0002612)	1.67702345
92	Abnormality of renal excretion (HP:0011036)	1.67237745
93	Abnormality of the diencephalon (HP:0010662)	1.67008532
94	Hypoplasia of the pons (HP:0012110)	1.66864766
95	Abnormality of serine family amino acid metabolism (HP:0010894)	1.66097464
96	Abnormality of glycine metabolism (HP:0010895)	1.66097464
97	Hypophosphatemic rickets (HP:0004912)	1.65824178
98	Vaginal atresia (HP:0000148)	1.64423200
99	Midline defect of the nose (HP:0004122)	1.63079241
100	Macrocytic anemia (HP:0001972)	1.62570058

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	VRK2	4.98455414
2	MAPK15	4.46260231
3	PNCK	3.95266604
4	CASK	3.75773237
5	BCKDK	3.00337101
6	VRK1	2.52614314
7	DYRK3	2.37127847
8	TAF1	2.34665770
9	STK16	2.29477492
10	BUB1	2.25662072
11	TSSK6	2.16257896
12	WEE1	2.06805125
13	EPHA2	2.05486901
14	STK39	1.92148810
15	STK38L	1.90539042
16	NME1	1.90494035
17	PLK4	1.74243744
18	PIK3CA	1.68567846
19	DYRK2	1.64007330
20	SMG1	1.57038659
21	WNK3	1.56158725
22	MAPKAPK3	1.55872524
23	MUSK	1.39938630
24	MAPKAPK5	1.37185843
25	CSNK1G1	1.37041800
26	BRSK1	1.32639479
27	BRSK2	1.31719321
28	CDC7	1.30379714
29	MAP2K7	1.28468186
30	EPHA4	1.23574231
31	PLK3	1.17795475
32	CDK8	1.17417194
33	CDK3	1.11056143
34	PLK1	1.08371704
35	TTK	1.08106854
36	RPS6KB2	1.07075452
37	CSNK1G3	1.05416201
38	OXSR1	1.05355497
39	MAP4K2	1.02962624
40	SRPK1	1.02269928
41	CHEK2	0.97839400
42	AURKA	0.97253070
43	TRIB3	0.96048035
44	IRAK3	0.93673551
45	STK24	0.93292818
46	PAK4	0.85512813
47	CSNK1A1L	0.82634984
48	TESK1	0.79364648
49	MST1R	0.74370252
50	ABL2	0.72608683
51	MST4	0.71511072
52	CDK9	0.71500594
53	CSNK1G2	0.70865418
54	CDK7	0.70700435
55	AKT2	0.69837514
56	ZAK	0.66062909
57	PRKCI	0.64308087
58	BMPR1B	0.63394039
59	PLK2	0.62569064
60	PBK	0.60633566
61	TLK1	0.60620907
62	NME2	0.59812557
63	BCR	0.58066677
64	MAP3K12	0.57710885
65	TRIM28	0.56230516
66	MET	0.55866832
67	LMTK2	0.55649105
68	NEK2	0.55328983
69	SIK1	0.55322669
70	NUAK1	0.54884075
71	CSNK1A1	0.53660573
72	CDK19	0.53621574
73	WNK4	0.51273581
74	DAPK1	0.51080055
75	MELK	0.50592403
76	NEK6	0.50505600
77	ACVR1B	0.48564632
78	GRK1	0.45913017
79	AURKB	0.44151327
80	MAP3K2	0.44122463
81	EPHB2	0.42890889
82	LIMK1	0.42816662
83	LRRK2	0.41862577
84	PHKG2	0.41116119
85	PHKG1	0.41116119
86	GSK3A	0.41012145
87	IRAK2	0.39049362
88	MAP3K11	0.38338081
89	TNIK	0.36161455
90	GRK5	0.34552738
91	CSNK2A2	0.34132836
92	CHUK	0.33926461
93	CSNK2A1	0.33218226
94	CAMK2B	0.32399878
95	MAP3K4	0.32268612
96	CAMK2D	0.31854434
97	ATR	0.31735927
98	DYRK1A	0.31378505
99	CAMKK2	0.30642470
100	BMX	0.30347639

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	2.88773126
2	Ribosome_Homo sapiens_hsa03010	2.58083063
3	Parkinsons disease_Homo sapiens_hsa05012	2.41086562
4	Huntingtons disease_Homo sapiens_hsa05016	2.25326266
5	Steroid biosynthesis_Homo sapiens_hsa00100	2.22325706
6	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.20015476
7	Mismatch repair_Homo sapiens_hsa03430	2.17738798
8	Propanoate metabolism_Homo sapiens_hsa00640	2.08840396
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.96216063
10	Sulfur relay system_Homo sapiens_hsa04122	1.92928528
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.88588071
12	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.84829175
13	Basal cell carcinoma_Homo sapiens_hsa05217	1.84096111
14	Sulfur metabolism_Homo sapiens_hsa00920	1.81593733
15	Alzheimers disease_Homo sapiens_hsa05010	1.81399945
16	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.78289285
17	Proteasome_Homo sapiens_hsa03050	1.76798881
18	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.72662045
19	Base excision repair_Homo sapiens_hsa03410	1.72099961
20	Protein export_Homo sapiens_hsa03060	1.65923708
21	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.65154045
22	RNA polymerase_Homo sapiens_hsa03020	1.59796087
23	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.56751630
24	DNA replication_Homo sapiens_hsa03030	1.53507019
25	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.53035757
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.50198524
27	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.44438612
28	Fatty acid elongation_Homo sapiens_hsa00062	1.39138999
29	Pyruvate metabolism_Homo sapiens_hsa00620	1.36720506
30	Glutathione metabolism_Homo sapiens_hsa00480	1.31504922
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.29401405
32	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.27657927
33	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.27162661
34	Chemical carcinogenesis_Homo sapiens_hsa05204	1.25172183
35	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.22741354
36	Phenylalanine metabolism_Homo sapiens_hsa00360	1.21470452
37	Fanconi anemia pathway_Homo sapiens_hsa03460	1.19175012
38	Homologous recombination_Homo sapiens_hsa03440	1.16077288
39	Arginine and proline metabolism_Homo sapiens_hsa00330	1.15252761
40	Fatty acid degradation_Homo sapiens_hsa00071	1.15023546
41	Cardiac muscle contraction_Homo sapiens_hsa04260	1.12262124
42	Folate biosynthesis_Homo sapiens_hsa00790	1.11641150
43	Nucleotide excision repair_Homo sapiens_hsa03420	1.10626074
44	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.08463210
45	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.06232975
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.05104596
47	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.04512314
48	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.02531925
49	Caffeine metabolism_Homo sapiens_hsa00232	1.01701733
50	Retinol metabolism_Homo sapiens_hsa00830	1.01590951
51	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.01499156
52	Fat digestion and absorption_Homo sapiens_hsa04975	1.00541841
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.00423846
54	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.00007158
55	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.99876204
56	Arginine biosynthesis_Homo sapiens_hsa00220	0.98617097
57	Butanoate metabolism_Homo sapiens_hsa00650	0.98039883
58	Pyrimidine metabolism_Homo sapiens_hsa00240	0.94889739
59	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.93996389
60	Fatty acid metabolism_Homo sapiens_hsa01212	0.92586741
61	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.91623998
62	Spliceosome_Homo sapiens_hsa03040	0.91557328
63	Metabolic pathways_Homo sapiens_hsa01100	0.91126425
64	Hippo signaling pathway_Homo sapiens_hsa04390	0.88225158
65	Tyrosine metabolism_Homo sapiens_hsa00350	0.88124210
66	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.85457347
67	Carbon metabolism_Homo sapiens_hsa01200	0.84893481
68	Peroxisome_Homo sapiens_hsa04146	0.83037457
69	One carbon pool by folate_Homo sapiens_hsa00670	0.81244557
70	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.80085389
71	beta-Alanine metabolism_Homo sapiens_hsa00410	0.75675439
72	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.73143218
73	Selenocompound metabolism_Homo sapiens_hsa00450	0.71371766
74	Purine metabolism_Homo sapiens_hsa00230	0.70976774
75	Tryptophan metabolism_Homo sapiens_hsa00380	0.70804158
76	Basal transcription factors_Homo sapiens_hsa03022	0.68489735
77	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.68409623
78	RNA transport_Homo sapiens_hsa03013	0.64990516
79	Histidine metabolism_Homo sapiens_hsa00340	0.63245162
80	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.59758445
81	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.59579579
82	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.55163223
83	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.53817768
84	PPAR signaling pathway_Homo sapiens_hsa03320	0.52320000
85	RNA degradation_Homo sapiens_hsa03018	0.52206703
86	Pentose phosphate pathway_Homo sapiens_hsa00030	0.49802520
87	Cell cycle_Homo sapiens_hsa04110	0.49146879
88	Wnt signaling pathway_Homo sapiens_hsa04310	0.48780594
89	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.47942747
90	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.47374338
91	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.45880879
92	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.43258860
93	Notch signaling pathway_Homo sapiens_hsa04330	0.43143838
94	Tight junction_Homo sapiens_hsa04530	0.42583480
95	Sphingolipid metabolism_Homo sapiens_hsa00600	0.40585652
96	Melanogenesis_Homo sapiens_hsa04916	0.38968622
97	Oocyte meiosis_Homo sapiens_hsa04114	0.38278171
98	Linoleic acid metabolism_Homo sapiens_hsa00591	0.30977762
99	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.30789409
100	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.30215088

OR7E14P

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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