ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosomal small subunit assembly (GO:0000028)	7.82260549
2	response to pheromone (GO:0019236)	7.71467791
3	nuclear envelope reassembly (GO:0031468)	6.98602824
4	mitotic nuclear envelope reassembly (GO:0007084)	6.98602824
5	seminiferous tubule development (GO:0072520)	6.47111056
6	negative regulation of JAK-STAT cascade (GO:0046426)	6.03449631
7	male meiosis I (GO:0007141)	5.81769875
8	protein heterotrimerization (GO:0070208)	5.63485150
9	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	5.54813790
10	negative regulation of interleukin-17 production (GO:0032700)	5.44491746
11	positive regulation of immune response to tumor cell (GO:0002839)	5.18076985
12	regulation of immune response to tumor cell (GO:0002837)	5.18076985
13	regulation of response to tumor cell (GO:0002834)	5.18076985
14	positive regulation of response to tumor cell (GO:0002836)	5.18076985
15	ribosomal large subunit biogenesis (GO:0042273)	5.16609533
16	oligosaccharide biosynthetic process (GO:0009312)	5.08242246
17	positive regulation of histone H3-K4 methylation (GO:0051571)	4.83081153
18	CENP-A containing nucleosome assembly (GO:0034080)	4.69993026
19	viral transcription (GO:0019083)	4.69589177
20	ribosomal small subunit biogenesis (GO:0042274)	4.68646299
21	chromatin remodeling at centromere (GO:0031055)	4.59490445
22	meiosis I (GO:0007127)	4.54183189
23	translational termination (GO:0006415)	4.50460965
24	positive regulation of cell size (GO:0045793)	4.46360360
25	L-methionine salvage (GO:0071267)	4.43675681
26	L-methionine biosynthetic process (GO:0071265)	4.43675681
27	amino acid salvage (GO:0043102)	4.43675681
28	artery development (GO:0060840)	4.38908023
29	monoubiquitinated protein deubiquitination (GO:0035520)	4.23221407
30	ethanol oxidation (GO:0006069)	4.08951803
31	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.97766371
32	translational elongation (GO:0006414)	3.96641376
33	grooming behavior (GO:0007625)	3.93606551
34	cellular response to fluid shear stress (GO:0071498)	3.92066413
35	response to UV-B (GO:0010224)	3.84540255
36	translational initiation (GO:0006413)	3.73429837
37	heterochromatin organization (GO:0070828)	3.72088754
38	histone exchange (GO:0043486)	3.70402957
39	maturation of SSU-rRNA (GO:0030490)	3.69801245
40	otic vesicle formation (GO:0030916)	3.67646809
41	positive regulation of muscle cell apoptotic process (GO:0010661)	3.66010366
42	metanephric mesenchyme development (GO:0072075)	3.65283475
43	negative regulation of transcription by competitive promoter binding (GO:0010944)	3.64098428
44	regulation of meiosis I (GO:0060631)	3.62583020
45	regulation of phospholipase A2 activity (GO:0032429)	3.55017786
46	renal tubule morphogenesis (GO:0061333)	3.54603283
47	vitamin catabolic process (GO:0009111)	3.51232862
48	fat-soluble vitamin catabolic process (GO:0042363)	3.51232862
49	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.48359165
50	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.48359165
51	positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr	3.46330177
52	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.45679800
53	maturation of 5.8S rRNA (GO:0000460)	3.45652420
54	DNA replication-independent nucleosome assembly (GO:0006336)	3.43458920
55	DNA replication-independent nucleosome organization (GO:0034724)	3.43458920
56	cotranslational protein targeting to membrane (GO:0006613)	3.36116697
57	cellular protein complex disassembly (GO:0043624)	3.34699279
58	protein targeting to ER (GO:0045047)	3.30687627
59	regulation of signal transduction by p53 class mediator (GO:1901796)	3.29168952
60	inositol phosphate-mediated signaling (GO:0048016)	3.26499338
61	DNA replication checkpoint (GO:0000076)	3.25844676
62	poly(A)+ mRNA export from nucleus (GO:0016973)	3.25136911
63	formation of translation preinitiation complex (GO:0001731)	3.24372712
64	viral life cycle (GO:0019058)	3.23354569
65	protein localization to endoplasmic reticulum (GO:0070972)	3.19836964
66	chromosome organization involved in meiosis (GO:0070192)	3.19603600
67	regulation of smooth muscle cell apoptotic process (GO:0034391)	3.17968423
68	establishment of protein localization to endoplasmic reticulum (GO:0072599)	3.16998958
69	synapsis (GO:0007129)	3.16673235
70	gastrulation with mouth forming second (GO:0001702)	3.16179600
71	positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)	3.14179102
72	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.12315572
73	terpenoid biosynthetic process (GO:0016114)	3.10515841
74	purine-containing compound salvage (GO:0043101)	3.09665899
75	piRNA metabolic process (GO:0034587)	3.09342325
76	kidney mesenchyme development (GO:0072074)	3.04324753
77	regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition	3.04259221
78	metanephric nephron tubule development (GO:0072234)	3.04033227
79	metanephric tubule development (GO:0072170)	3.04033227
80	methionine biosynthetic process (GO:0009086)	3.01102047
81	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	2.99413886
82	nuclear-transcribed mRNA catabolic process (GO:0000956)	2.98484217
83	mismatch repair (GO:0006298)	2.96103919
84	synaptonemal complex organization (GO:0070193)	2.93959527
85	ribonucleoprotein complex biogenesis (GO:0022613)	2.93718165
86	protein complex disassembly (GO:0043241)	2.93157775
87	glandular epithelial cell differentiation (GO:0002067)	2.92805539
88	short-chain fatty acid metabolic process (GO:0046459)	2.92061900
89	musculoskeletal movement (GO:0050881)	2.91565739
90	multicellular organismal movement (GO:0050879)	2.91565739
91	purine deoxyribonucleotide catabolic process (GO:0009155)	2.89738077
92	positive regulation of mitochondrial fission (GO:0090141)	2.88940660
93	DNA methylation involved in gamete generation (GO:0043046)	2.88217304
94	ethanol metabolic process (GO:0006067)	2.87619580
95	synaptonemal complex assembly (GO:0007130)	2.85665854
96	GMP metabolic process (GO:0046037)	2.84142603
97	pharyngeal system development (GO:0060037)	2.83509278
98	meiotic cell cycle (GO:0051321)	2.83261690
99	methionine metabolic process (GO:0006555)	2.81637156
100	regulation of translational elongation (GO:0006448)	2.81551156

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA1_22025678_ChIP-Seq_K562_Human	5.54951108
2	TAF15_26573619_Chip-Seq_HEK293_Human	4.09988726
3	VDR_22108803_ChIP-Seq_LS180_Human	3.86971895
4	EZH2_22144423_ChIP-Seq_EOC_Human	3.57837957
5	FUS_26573619_Chip-Seq_HEK293_Human	3.54224590
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.41585330
7	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.26077702
8	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.08382622
9	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.89702874
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.76710094
11	IRF1_19129219_ChIP-ChIP_H3396_Human	2.67318472
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.53138915
13	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.32482187
14	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.27036190
15	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.26227611
16	ZNF274_21170338_ChIP-Seq_K562_Hela	2.20911012
17	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.17563101
18	EWS_26573619_Chip-Seq_HEK293_Human	2.09606900
19	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.07195030
20	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.96805614
21	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.96565799
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.92389863
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.89469336
24	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.85449422
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.82664829
26	BCAT_22108803_ChIP-Seq_LS180_Human	1.79400648
27	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.73991448
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.69816381
29	P300_19829295_ChIP-Seq_ESCs_Human	1.68080000
30	AR_21572438_ChIP-Seq_LNCaP_Human	1.59347809
31	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.58901292
32	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.58168104
33	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.51865425
34	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.51829331
35	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.51626688
36	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.48926880
37	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.47103467
38	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.45836247
39	VDR_23849224_ChIP-Seq_CD4+_Human	1.42165281
40	ASXL1_24218140_ChIP-Seq_BMDM_Mouse	1.41574867
41	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.40258084
42	SCL_19346495_ChIP-Seq_HPC-7_Human	1.39119601
43	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.37145196
44	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.32268216
45	ER_23166858_ChIP-Seq_MCF-7_Human	1.31107372
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30745478
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30745478
48	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.30622982
49	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.29946745
50	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.27013014
51	CBP_20019798_ChIP-Seq_JUKART_Human	1.27013014
52	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.24315355
53	TCF4_23295773_ChIP-Seq_U87_Human	1.21690984
54	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.20364372
55	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20364372
56	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.19866434
57	TP53_22573176_ChIP-Seq_HFKS_Human	1.18678569
58	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.17135339
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.16889777
60	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.15594862
61	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.15216116
62	SMAD4_21799915_ChIP-Seq_A2780_Human	1.13041410
63	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.12504195
64	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.12331712
65	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.11389328
66	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.11258457
67	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.10933980
68	FOXP3_21729870_ChIP-Seq_TREG_Human	1.08827053
69	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.07796950
70	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.07597887
71	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.06257700
72	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.05937458
73	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.03791691
74	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.00973201
75	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.00852831
76	RNF2_27304074_Chip-Seq_NSC_Mouse	1.00386882
77	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.00317625
78	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.99633107
79	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.99593954
80	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.97255211
81	RUNX2_22187159_ChIP-Seq_PCA_Human	0.96883500
82	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.95792708
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.95177532
84	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.94211466
85	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.92621868
86	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.92084324
87	ELK1_19687146_ChIP-ChIP_HELA_Human	0.91764873
88	MYB_26560356_Chip-Seq_TH2_Human	0.91292679
89	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.90656895
90	CDX2_22108803_ChIP-Seq_LS180_Human	0.90287614
91	TCF4_22108803_ChIP-Seq_LS180_Human	0.89896015
92	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.89738055
93	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.89091401
94	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	0.85785714
95	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.84909894
96	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	0.84861833
97	MYC_19079543_ChIP-ChIP_MESCs_Mouse	0.82916038
98	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	0.82544071
99	TBL1_22424771_ChIP-Seq_293T_Human	0.82299624
100	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.82212319

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003283_abnormal_digestive_organ	7.81683446
2	MP0008004_abnormal_stomach_pH	5.46675737
3	MP0005075_abnormal_melanosome_morpholog	4.93887731
4	MP0002837_dystrophic_cardiac_calcinosis	4.13694648
5	MP0002160_abnormal_reproductive_system	3.00832922
6	MP0003252_abnormal_bile_duct	2.92751977
7	MP0004147_increased_porphyrin_level	2.89442111
8	MP0008877_abnormal_DNA_methylation	2.60741804
9	MP0006292_abnormal_olfactory_placode	2.55467713
10	MP0003567_abnormal_fetal_cardiomyocyte	2.51342274
11	MP0010094_abnormal_chromosome_stability	2.25759918
12	MP0005646_abnormal_pituitary_gland	2.24886489
13	MP0001727_abnormal_embryo_implantation	2.19921587
14	MP0003943_abnormal_hepatobiliary_system	2.19869922
15	MP0000013_abnormal_adipose_tissue	2.18127960
16	MP0002132_abnormal_respiratory_system	1.94575723
17	MP0001529_abnormal_vocalization	1.94024758
18	MP0001440_abnormal_grooming_behavior	1.85260221
19	MP0005389_reproductive_system_phenotype	1.83929586
20	MP0000678_abnormal_parathyroid_gland	1.80176799
21	MP0009379_abnormal_foot_pigmentation	1.74372952
22	MP0005085_abnormal_gallbladder_physiolo	1.69771225
23	MP0004084_abnormal_cardiac_muscle	1.65593906
24	MP0002735_abnormal_chemical_nociception	1.59512227
25	MP0003045_fibrosis	1.53513848
26	MP0008995_early_reproductive_senescence	1.50829596
27	MP0009697_abnormal_copulation	1.49679725
28	MP0003806_abnormal_nucleotide_metabolis	1.45671041
29	MP0005220_abnormal_exocrine_pancreas	1.36603206
30	MP0002127_abnormal_cardiovascular_syste	1.31568835
31	MP0003693_abnormal_embryo_hatching	1.29410202
32	MP0004484_altered_response_of	1.26098453
33	MP0004957_abnormal_blastocyst_morpholog	1.24811130
34	MP0008058_abnormal_DNA_repair	1.22731350
35	MP0008057_abnormal_DNA_replication	1.21993370
36	MP0004215_abnormal_myocardial_fiber	1.20259891
37	MP0003786_premature_aging	1.19842961
38	MP0004510_myositis	1.08361316
39	MP0002210_abnormal_sex_determination	1.08226617
40	MP0000371_diluted_coat_color	1.05105632
41	MP0001188_hyperpigmentation	1.04925242
42	MP0004808_abnormal_hematopoietic_stem	1.02032987
43	MP0005310_abnormal_salivary_gland	1.00797704
44	MP0001145_abnormal_male_reproductive	0.99149268
45	MP0001485_abnormal_pinna_reflex	0.97654417
46	MP0009765_abnormal_xenobiotic_induced	0.97313407
47	MP0006276_abnormal_autonomic_nervous	0.96571231
48	MP0001929_abnormal_gametogenesis	0.96261104
49	MP0005084_abnormal_gallbladder_morpholo	0.95682349
50	MP0002148_abnormal_hypersensitivity_rea	0.94814648
51	MP0005670_abnormal_white_adipose	0.94120908
52	MP0002272_abnormal_nervous_system	0.93537603
53	MP0000681_abnormal_thyroid_gland	0.91926467
54	MP0004133_heterotaxia	0.91644303
55	MP0000631_abnormal_neuroendocrine_gland	0.90479046
56	MP0004381_abnormal_hair_follicle	0.90221722
57	MP0000537_abnormal_urethra_morphology	0.89724945
58	MP0004019_abnormal_vitamin_homeostasis	0.88844847
59	MP0003698_abnormal_male_reproductive	0.86212266
60	MP0010630_abnormal_cardiac_muscle	0.85130952
61	MP0000372_irregular_coat_pigmentation	0.82821758
62	MP0002084_abnormal_developmental_patter	0.80985466
63	MP0000049_abnormal_middle_ear	0.80518270
64	MP0001664_abnormal_digestion	0.80121260
65	MP0006072_abnormal_retinal_apoptosis	0.79944692
66	MP0003137_abnormal_impulse_conducting	0.79288784
67	MP0004036_abnormal_muscle_relaxation	0.78610204
68	MP0000653_abnormal_sex_gland	0.75607577
69	MP0001919_abnormal_reproductive_system	0.74072146
70	MP0001324_abnormal_eye_pigmentation	0.73866080
71	MP0008932_abnormal_embryonic_tissue	0.73513269
72	MP0003635_abnormal_synaptic_transmissio	0.71272459
73	MP0002653_abnormal_ependyma_morphology	0.70118788
74	MP0001544_abnormal_cardiovascular_syste	0.69404753
75	MP0005385_cardiovascular_system_phenoty	0.69404753
76	MP0002088_abnormal_embryonic_growth/wei	0.69003633
77	MP0003984_embryonic_growth_retardation	0.67538462
78	MP0003123_paternal_imprinting	0.66351224
79	MP0005253_abnormal_eye_physiology	0.65929616
80	MP0005165_increased_susceptibility_to	0.64448223
81	MP0009046_muscle_twitch	0.63107264
82	MP0005551_abnormal_eye_electrophysiolog	0.62197056
83	MP0001672_abnormal_embryogenesis/_devel	0.61706933
84	MP0005380_embryogenesis_phenotype	0.61706933
85	MP0000462_abnormal_digestive_system	0.61559920
86	MP0001765_abnormal_ion_homeostasis	0.60764588
87	MP0005167_abnormal_blood-brain_barrier	0.59443906
88	MP0001666_abnormal_nutrient_absorption	0.59188122
89	MP0005332_abnormal_amino_acid	0.58350929
90	MP0005636_abnormal_mineral_homeostasis	0.57274318
91	MP0003935_abnormal_craniofacial_develop	0.55949264
92	MP0003959_abnormal_lean_body	0.55765701
93	MP0000003_abnormal_adipose_tissue	0.55365041
94	MP0008872_abnormal_physiological_respon	0.55205204
95	MP0005410_abnormal_fertilization	0.54000708
96	MP0004085_abnormal_heartbeat	0.51963190
97	MP0003632_abnormal_nervous_system	0.51844642
98	MP0001697_abnormal_embryo_size	0.49210298
99	MP0005266_abnormal_metabolism	0.48620141
100	MP0001849_ear_inflammation	0.48424720

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Bundle branch block (HP:0011710)	5.01662422
2	Reticulocytopenia (HP:0001896)	4.66369954
3	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.14277435
4	Absent/shortened dynein arms (HP:0200106)	4.14277435
5	Stenosis of the external auditory canal (HP:0000402)	4.12159528
6	Horizontal nystagmus (HP:0000666)	3.86028319
7	Heart block (HP:0012722)	3.78748596
8	Abnormality of cochlea (HP:0000375)	3.76300349
9	Febrile seizures (HP:0002373)	3.73411073
10	Deep philtrum (HP:0002002)	3.66950870
11	Asymmetric septal hypertrophy (HP:0001670)	3.37902782
12	Increased hepatocellular lipid droplets (HP:0006565)	3.36254772
13	Abnormal atrioventricular conduction (HP:0005150)	3.35873174
14	Bilateral sensorineural hearing impairment (HP:0008619)	3.31856816
15	Abnormality of incisor morphology (HP:0011063)	3.30766010
16	Asplenia (HP:0001746)	3.30457975
17	Chronic otitis media (HP:0000389)	3.27489745
18	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	3.26497591
19	Short 1st metacarpal (HP:0010034)	3.26497591
20	Lipid accumulation in hepatocytes (HP:0006561)	3.21608369
21	Cerebral hypomyelination (HP:0006808)	3.20060805
22	Atrioventricular block (HP:0001678)	3.15448808
23	Abnormality of cells of the erythroid lineage (HP:0012130)	3.09739593
24	Sensorimotor neuropathy (HP:0007141)	3.09385467
25	Renal Fanconi syndrome (HP:0001994)	3.06622067
26	Morphological abnormality of the inner ear (HP:0011390)	3.02958717
27	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.96779771
28	Chronic sinusitis (HP:0011109)	2.91586157
29	Abnormality of the 1st metacarpal (HP:0010009)	2.89772212
30	Morphological abnormality of the middle ear (HP:0008609)	2.89357641
31	Abnormality of the renal collecting system (HP:0004742)	2.86748071
32	Myokymia (HP:0002411)	2.85176753
33	Popliteal pterygium (HP:0009756)	2.73007973
34	Ventricular fibrillation (HP:0001663)	2.71298937
35	Syncope (HP:0001279)	2.64849812
36	Large eyes (HP:0001090)	2.63148444
37	Pendular nystagmus (HP:0012043)	2.62280452
38	Exertional dyspnea (HP:0002875)	2.61525682
39	Agammaglobulinemia (HP:0004432)	2.59245549
40	Failure to thrive in infancy (HP:0001531)	2.53267605
41	Abnormality of the labia minora (HP:0012880)	2.52958275
42	Birth length less than 3rd percentile (HP:0003561)	2.51672143
43	Panhypogammaglobulinemia (HP:0003139)	2.47672706
44	Pallor (HP:0000980)	2.40702814
45	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.32592918
46	Abnormality of renal resorption (HP:0011038)	2.27407605
47	Synostosis involving bones of the hand (HP:0004278)	2.24974992
48	Ectopic kidney (HP:0000086)	2.24896570
49	Abnormal ciliary motility (HP:0012262)	2.23806345
50	Type I transferrin isoform profile (HP:0003642)	2.21501849
51	Abnormality of the musculature of the hand (HP:0001421)	2.20841172
52	Intrahepatic cholestasis (HP:0001406)	2.19041246
53	Sudden death (HP:0001699)	2.13044443
54	Absent thumb (HP:0009777)	2.11688083
55	Abnormality of the corticospinal tract (HP:0002492)	2.10666043
56	Abnormal number of erythroid precursors (HP:0012131)	2.09846452
57	Ulnar claw (HP:0001178)	2.08639730
58	Macrocytic anemia (HP:0001972)	2.07756582
59	Abnormality of the pancreatic islet cells (HP:0006476)	2.06982347
60	Abnormality of endocrine pancreas physiology (HP:0012093)	2.06982347
61	Unsteady gait (HP:0002317)	2.06730797
62	Microglossia (HP:0000171)	2.05909623
63	Delayed CNS myelination (HP:0002188)	2.05583952
64	Short hallux (HP:0010109)	2.04966286
65	Abnormality of lateral ventricle (HP:0030047)	2.03278094
66	Increased intramyocellular lipid droplets (HP:0012240)	2.02791777
67	Hyperphosphaturia (HP:0003109)	2.02028096
68	Abnormal respiratory motile cilium morphology (HP:0005938)	1.98872756
69	Abnormal respiratory epithelium morphology (HP:0012253)	1.98872756
70	Aplasia/Hypoplasia of the hallux (HP:0008362)	1.94458277
71	Cupped ear (HP:0000378)	1.93888582
72	Limb hypertonia (HP:0002509)	1.92406272
73	B lymphocytopenia (HP:0010976)	1.91016875
74	Rhinitis (HP:0012384)	1.89099844
75	Abnormality of macular pigmentation (HP:0008002)	1.88787486
76	Increased CSF lactate (HP:0002490)	1.87459692
77	Abnormality of DNA repair (HP:0003254)	1.87273083
78	Azoospermia (HP:0000027)	1.86966055
79	Abnormal respiratory motile cilium physiology (HP:0012261)	1.86678841
80	Spastic tetraparesis (HP:0001285)	1.86137556
81	Renal cortical cysts (HP:0000803)	1.85729169
82	Ventricular arrhythmia (HP:0004308)	1.85257756
83	Torticollis (HP:0000473)	1.83095434
84	Neoplasm of the peripheral nervous system (HP:0100007)	1.80592158
85	Abnormality of the 4th metacarpal (HP:0010012)	1.78682638
86	Lip pit (HP:0100267)	1.76686580
87	Cystic hygroma (HP:0000476)	1.76447568
88	Hyporeflexia of lower limbs (HP:0002600)	1.75469051
89	Atrial fibrillation (HP:0005110)	1.75098048
90	Short phalanx of the thumb (HP:0009660)	1.73231427
91	Increased muscle lipid content (HP:0009058)	1.71857556
92	Respiratory difficulties (HP:0002880)	1.71493636
93	Horseshoe kidney (HP:0000085)	1.71112198
94	Prominent nose (HP:0000448)	1.69146606
95	Autoimmune hemolytic anemia (HP:0001890)	1.69049184
96	Ventricular tachycardia (HP:0004756)	1.67942488
97	Fused cervical vertebrae (HP:0002949)	1.66153519
98	Sloping forehead (HP:0000340)	1.65812466
99	Hypomagnesemia (HP:0002917)	1.65757978
100	Severe combined immunodeficiency (HP:0004430)	1.64696936

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	6.14890175
2	CCNB1	4.55815960
3	BRSK2	4.23570802
4	CDK19	4.17006800
5	MST4	3.35604197
6	WEE1	2.80853519
7	MUSK	2.71277974
8	CDK8	2.23709597
9	NME2	2.23394190
10	PRKD2	2.20749183
11	CDK3	2.15585235
12	RPS6KA4	2.09537416
13	RPS6KB2	1.97143466
14	BRSK1	1.92564135
15	EIF2AK1	1.81344243
16	RIPK4	1.65719975
17	AKT3	1.62183463
18	FGFR3	1.54216519
19	PRKCH	1.40278291
20	BRD4	1.39360990
21	PRKD3	1.33068437
22	DAPK2	1.30963197
23	OXSR1	1.27865333
24	MAPK7	1.25805808
25	OBSCN	1.23755701
26	MAPK13	1.18309131
27	MATK	1.18260463
28	BMPR2	1.14826616
29	WNK3	1.13781398
30	GRK7	1.05259278
31	VRK1	1.03424428
32	PRKCE	1.01343300
33	PBK	1.01260035
34	TYRO3	0.96164939
35	DYRK1A	0.95682385
36	IRAK2	0.95624608
37	SYK	0.93104330
38	PLK1	0.92609038
39	ILK	0.85013503
40	NUAK1	0.83288485
41	PIK3CA	0.81707683
42	YES1	0.81159315
43	INSRR	0.79521643
44	EGFR	0.76280155
45	TEC	0.74981505
46	CAMK1	0.70735620
47	MARK3	0.69686353
48	SMG1	0.68843083
49	PHKG1	0.67930213
50	PHKG2	0.67930213
51	LMTK2	0.67312784
52	PLK3	0.63250624
53	IRAK3	0.61918922
54	MAPK4	0.61375826
55	PLK4	0.60246998
56	EIF2AK3	0.57975685
57	DYRK3	0.57336966
58	PASK	0.56715077
59	NLK	0.56591923
60	MKNK2	0.54199281
61	PAK2	0.52784137
62	DYRK2	0.50245259
63	KIT	0.50186004
64	INSR	0.49789148
65	PKN2	0.48263243
66	PRKG2	0.47654727
67	BCKDK	0.47315989
68	TTK	0.46190293
69	CAMK2G	0.44869460
70	NEK2	0.43457887
71	CDK4	0.41331467
72	MAP3K4	0.40495215
73	GSK3A	0.39626423
74	KDR	0.39594179
75	EPHA4	0.38776403
76	PKN1	0.37533247
77	MYLK	0.37504285
78	ITK	0.36597339
79	RPS6KA6	0.36015303
80	PRKCD	0.35278582
81	NME1	0.33454174
82	CSNK2A2	0.33038074
83	LCK	0.31905974
84	RPS6KA1	0.31333973
85	CSNK2A1	0.30792264
86	DAPK3	0.30107562
87	DAPK1	0.29609875
88	RPS6KL1	0.29453503
89	RPS6KC1	0.29453503
90	NEK6	0.29057652
91	PRKACA	0.26618321
92	MKNK1	0.25389900
93	PLK2	0.25366125
94	MAPKAPK5	0.24957230
95	PRKD1	0.24750860
96	AURKB	0.23623004
97	RPS6KB1	0.23399567
98	FES	0.23397903
99	IGF1R	0.23298178
100	ATM	0.22299182

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	5.42559953
2	Ribosome_Homo sapiens_hsa03010	4.38303671
3	Primary bile acid biosynthesis_Homo sapiens_hsa00120	3.24361260
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.79731607
5	Propanoate metabolism_Homo sapiens_hsa00640	2.35283303
6	Homologous recombination_Homo sapiens_hsa03440	2.18855177
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.07318711
8	mRNA surveillance pathway_Homo sapiens_hsa03015	1.97244199
9	Fanconi anemia pathway_Homo sapiens_hsa03460	1.94153467
10	Base excision repair_Homo sapiens_hsa03410	1.87307707
11	RNA degradation_Homo sapiens_hsa03018	1.85135279
12	Butanoate metabolism_Homo sapiens_hsa00650	1.84355347
13	Long-term depression_Homo sapiens_hsa04730	1.74440481
14	Olfactory transduction_Homo sapiens_hsa04740	1.70616038
15	Sulfur relay system_Homo sapiens_hsa04122	1.69082404
16	Proteasome_Homo sapiens_hsa03050	1.68414255
17	Primary immunodeficiency_Homo sapiens_hsa05340	1.59907932
18	DNA replication_Homo sapiens_hsa03030	1.52762566
19	Non-homologous end-joining_Homo sapiens_hsa03450	1.49182651
20	Tyrosine metabolism_Homo sapiens_hsa00350	1.49013919
21	Mismatch repair_Homo sapiens_hsa03430	1.45436583
22	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.42585361
23	Nucleotide excision repair_Homo sapiens_hsa03420	1.40154265
24	Retinol metabolism_Homo sapiens_hsa00830	1.29591558
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.29569907
26	Pancreatic secretion_Homo sapiens_hsa04972	1.27377191
27	Regulation of autophagy_Homo sapiens_hsa04140	1.23634240
28	Morphine addiction_Homo sapiens_hsa05032	1.18776957
29	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.14724697
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.13956880
31	Nicotine addiction_Homo sapiens_hsa05033	1.13559460
32	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.12383321
33	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	1.11639119
34	Oocyte meiosis_Homo sapiens_hsa04114	1.11227151
35	RNA transport_Homo sapiens_hsa03013	1.07702318
36	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.05627010
37	African trypanosomiasis_Homo sapiens_hsa05143	1.01101900
38	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.99693307
39	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.99443687
40	Circadian entrainment_Homo sapiens_hsa04713	0.99336719
41	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.99179610
42	Linoleic acid metabolism_Homo sapiens_hsa00591	0.98826073
43	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.98570067
44	Cell cycle_Homo sapiens_hsa04110	0.98392428
45	Chemical carcinogenesis_Homo sapiens_hsa05204	0.98347930
46	Parkinsons disease_Homo sapiens_hsa05012	0.95975174
47	GABAergic synapse_Homo sapiens_hsa04727	0.95104087
48	Peroxisome_Homo sapiens_hsa04146	0.91792588
49	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.89776536
50	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.89375658
51	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.87693442
52	Cardiac muscle contraction_Homo sapiens_hsa04260	0.86755480
53	Purine metabolism_Homo sapiens_hsa00230	0.86504924
54	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.85933301
55	Phenylalanine metabolism_Homo sapiens_hsa00360	0.84990709
56	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.84919679
57	Calcium signaling pathway_Homo sapiens_hsa04020	0.84233976
58	Type I diabetes mellitus_Homo sapiens_hsa04940	0.84203528
59	Fatty acid elongation_Homo sapiens_hsa00062	0.82942068
60	Dopaminergic synapse_Homo sapiens_hsa04728	0.80797004
61	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.77232818
62	Allograft rejection_Homo sapiens_hsa05330	0.75523308
63	Tight junction_Homo sapiens_hsa04530	0.70835406
64	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.70631303
65	Ether lipid metabolism_Homo sapiens_hsa00565	0.69825640
66	Gap junction_Homo sapiens_hsa04540	0.68971352
67	Taste transduction_Homo sapiens_hsa04742	0.68395850
68	Oxidative phosphorylation_Homo sapiens_hsa00190	0.67419370
69	Salivary secretion_Homo sapiens_hsa04970	0.65925784
70	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.63763301
71	Cholinergic synapse_Homo sapiens_hsa04725	0.62839714
72	Hepatitis C_Homo sapiens_hsa05160	0.62289945
73	mTOR signaling pathway_Homo sapiens_hsa04150	0.61048929
74	Legionellosis_Homo sapiens_hsa05134	0.58931986
75	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.57357773
76	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.55540113
77	Serotonergic synapse_Homo sapiens_hsa04726	0.54538206
78	Huntingtons disease_Homo sapiens_hsa05016	0.52740773
79	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.52411784
80	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.52169566
81	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.49948093
82	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.49379318
83	Hippo signaling pathway_Homo sapiens_hsa04390	0.48369330
84	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.48228558
85	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.47311173
86	Fatty acid degradation_Homo sapiens_hsa00071	0.47197564
87	Melanoma_Homo sapiens_hsa05218	0.45505007
88	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.45375844
89	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.45347252
90	Metabolic pathways_Homo sapiens_hsa01100	0.44104079
91	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.43957919
92	Renin secretion_Homo sapiens_hsa04924	0.42254335
93	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.41668616
94	Glutamatergic synapse_Homo sapiens_hsa04724	0.41491434
95	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.41034899
96	Insulin secretion_Homo sapiens_hsa04911	0.39420262
97	Protein digestion and absorption_Homo sapiens_hsa04974	0.38826459
98	Basal transcription factors_Homo sapiens_hsa03022	0.37187351
99	Pyrimidine metabolism_Homo sapiens_hsa00240	0.37073240
100	Malaria_Homo sapiens_hsa05144	0.36814333

VN1R85P

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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