ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein K11-linked deubiquitination (GO:0035871)	5.71187425
2	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.96268407
3	DNA methylation involved in gamete generation (GO:0043046)	4.53499981
4	tachykinin receptor signaling pathway (GO:0007217)	4.45916940
5	indole-containing compound catabolic process (GO:0042436)	4.41306277
6	indolalkylamine catabolic process (GO:0046218)	4.41306277
7	tryptophan catabolic process (GO:0006569)	4.41306277
8	indolalkylamine metabolic process (GO:0006586)	4.16147925
9	synapsis (GO:0007129)	3.98018049
10	meiotic chromosome segregation (GO:0045132)	3.84539455
11	centriole replication (GO:0007099)	3.82348121
12	detection of light stimulus involved in visual perception (GO:0050908)	3.77907941
13	detection of light stimulus involved in sensory perception (GO:0050962)	3.77907941
14	cilium or flagellum-dependent cell motility (GO:0001539)	3.71792404
15	cellular ketone body metabolic process (GO:0046950)	3.69686884
16	tryptophan metabolic process (GO:0006568)	3.63858212
17	photoreceptor cell maintenance (GO:0045494)	3.62603030
18	adaptation of signaling pathway (GO:0023058)	3.62315411
19	L-fucose metabolic process (GO:0042354)	3.60147232
20	L-fucose catabolic process (GO:0042355)	3.60147232
21	fucose catabolic process (GO:0019317)	3.60147232
22	neural tube formation (GO:0001841)	3.57929513
23	replication fork processing (GO:0031297)	3.57336481
24	signal peptide processing (GO:0006465)	3.47855550
25	ketone body metabolic process (GO:1902224)	3.34680056
26	double-strand break repair via homologous recombination (GO:0000724)	3.34448009
27	intra-S DNA damage checkpoint (GO:0031573)	3.32626344
28	recombinational repair (GO:0000725)	3.30693273
29	kynurenine metabolic process (GO:0070189)	3.29814093
30	serotonin receptor signaling pathway (GO:0007210)	3.28543225
31	negative regulation of calcium ion transport into cytosol (GO:0010523)	3.21941633
32	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	3.19246379
33	DNA double-strand break processing (GO:0000729)	3.15873473
34	retinal cone cell development (GO:0046549)	3.12656715
35	reciprocal meiotic recombination (GO:0007131)	3.10641228
36	reciprocal DNA recombination (GO:0035825)	3.10641228
37	methionine biosynthetic process (GO:0009086)	3.10415238
38	NAD biosynthetic process (GO:0009435)	3.08805479
39	indole-containing compound metabolic process (GO:0042430)	3.04471082
40	regulation of histone H3-K4 methylation (GO:0051569)	3.03861705
41	reflex (GO:0060004)	3.02108224
42	cellular biogenic amine catabolic process (GO:0042402)	2.99164646
43	amine catabolic process (GO:0009310)	2.99164646
44	benzene-containing compound metabolic process (GO:0042537)	2.96467294
45	resolution of meiotic recombination intermediates (GO:0000712)	2.95595092
46	sensory perception of smell (GO:0007608)	2.95179114
47	piRNA metabolic process (GO:0034587)	2.94890813
48	protein K48-linked deubiquitination (GO:0071108)	2.93702325
49	axoneme assembly (GO:0035082)	2.92447997
50	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.91605478
51	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.88192858
52	histone mRNA catabolic process (GO:0071044)	2.85016929
53	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.84858772
54	monoubiquitinated protein deubiquitination (GO:0035520)	2.84183369
55	histone H2A acetylation (GO:0043968)	2.84159694
56	diterpenoid biosynthetic process (GO:0016102)	2.82659957
57	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.82543146
58	protein K63-linked deubiquitination (GO:0070536)	2.82292623
59	maturation of 5.8S rRNA (GO:0000460)	2.82202444
60	positive regulation of histone H3-K4 methylation (GO:0051571)	2.79825396
61	sulfur amino acid biosynthetic process (GO:0000097)	2.79127289
62	glycosphingolipid biosynthetic process (GO:0006688)	2.78308156
63	peptidyl-histidine modification (GO:0018202)	2.77917524
64	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.76274434
65	homocysteine metabolic process (GO:0050667)	2.75973172
66	centriole assembly (GO:0098534)	2.72358669
67	DNA methylation (GO:0006306)	2.64471940
68	DNA alkylation (GO:0006305)	2.64471940
69	thyroid hormone metabolic process (GO:0042403)	2.62693749
70	DNA integration (GO:0015074)	2.62069438
71	nuclear pore organization (GO:0006999)	2.60789397
72	DNA deamination (GO:0045006)	2.60111893
73	auditory receptor cell stereocilium organization (GO:0060088)	2.57138400
74	righting reflex (GO:0060013)	2.57060408
75	sphingoid metabolic process (GO:0046519)	2.55400705
76	male meiosis (GO:0007140)	2.54586931
77	negative regulation of mast cell activation (GO:0033004)	2.54536703
78	response to pheromone (GO:0019236)	2.54422047
79	preassembly of GPI anchor in ER membrane (GO:0016254)	2.53792577
80	DNA methylation or demethylation (GO:0044728)	2.53258931
81	positive regulation of developmental pigmentation (GO:0048087)	2.52364411
82	pyrimidine dimer repair (GO:0006290)	2.52334168
83	rhodopsin mediated signaling pathway (GO:0016056)	2.51082350
84	regulation of centrosome duplication (GO:0010824)	2.50785147
85	arginine catabolic process (GO:0006527)	2.49985554
86	pseudouridine synthesis (GO:0001522)	2.49565516
87	aromatic amino acid family catabolic process (GO:0009074)	2.48779585
88	protein-chromophore linkage (GO:0018298)	2.48504934
89	protein prenylation (GO:0018342)	2.48402211
90	prenylation (GO:0097354)	2.48402211
91	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.47171341
92	L-methionine salvage (GO:0071267)	2.46463294
93	L-methionine biosynthetic process (GO:0071265)	2.46463294
94	amino acid salvage (GO:0043102)	2.46463294
95	cilium organization (GO:0044782)	2.46241444
96	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.45982179
97	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.45982179
98	startle response (GO:0001964)	2.45654286
99	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	2.45487792
100	regulation of meiosis I (GO:0060631)	2.45098203

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.42733144
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.37083876
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.01928114
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.91604409
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.86833089
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.74758288
7	E2F7_22180533_ChIP-Seq_HELA_Human	2.58192385
8	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.56911541
9	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.54293960
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.40953151
11	GATA1_22025678_ChIP-Seq_K562_Human	2.40369252
12	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.35871984
13	ER_23166858_ChIP-Seq_MCF-7_Human	2.24625646
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.18117230
15	EWS_26573619_Chip-Seq_HEK293_Human	2.13226651
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.09383453
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.05833220
18	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99697613
19	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.94612984
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.92139421
21	AR_21572438_ChIP-Seq_LNCaP_Human	1.86483919
22	FUS_26573619_Chip-Seq_HEK293_Human	1.84838510
23	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.80921664
24	P300_19829295_ChIP-Seq_ESCs_Human	1.73075567
25	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.69511915
26	STAT3_23295773_ChIP-Seq_U87_Human	1.69261514
27	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.68212469
28	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.68118965
29	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.65984806
30	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.62130694
31	TCF4_23295773_ChIP-Seq_U87_Human	1.58229968
32	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54464972
33	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.52978078
34	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50269383
35	IRF1_19129219_ChIP-ChIP_H3396_Human	1.45222359
36	SMAD4_21799915_ChIP-Seq_A2780_Human	1.42949897
37	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.42780719
38	BCAT_22108803_ChIP-Seq_LS180_Human	1.41537539
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.40725319
40	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.39340489
41	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.38327856
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.38327856
43	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.36692100
44	AR_25329375_ChIP-Seq_VCAP_Human	1.36533296
45	SCL_19346495_ChIP-Seq_HPC-7_Human	1.34764046
46	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.31905887
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.29646822
48	SOX2_19829295_ChIP-Seq_ESCs_Human	1.29646822
49	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.29168553
50	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.27554401
51	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.27233317
52	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.26873514
53	ELK1_19687146_ChIP-ChIP_HELA_Human	1.26622498
54	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.26311312
55	TCF4_22108803_ChIP-Seq_LS180_Human	1.25998777
56	VDR_23849224_ChIP-Seq_CD4+_Human	1.23466521
57	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22523843
58	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.16934665
59	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.16784784
60	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.15902180
61	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.14690778
62	PHF8_20622853_ChIP-Seq_HELA_Human	1.13974126
63	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.13640963
64	NCOR_22424771_ChIP-Seq_293T_Human	1.13250163
65	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.13068791
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12009178
67	RUNX2_22187159_ChIP-Seq_PCA_Human	1.10892670
68	CDX2_22108803_ChIP-Seq_LS180_Human	1.10708867
69	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10479084
70	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.10381161
71	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.10356728
72	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.10169930
73	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.10043746
74	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.10043746
75	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.09958102
76	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.09616791
77	ETV1_20927104_ChIP-Seq_GIST48_Human	1.09593457
78	NFYB_21822215_ChIP-Seq_K562_Human	1.08430927
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06763721
80	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.04574165
81	MYC_18940864_ChIP-ChIP_HL60_Human	1.04188004
82	TBL1_22424771_ChIP-Seq_293T_Human	1.03832565
83	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.03738245
84	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03526349
85	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.03395120
86	HOXB7_26014856_ChIP-Seq_BT474_Human	1.02704891
87	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.02438993
88	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.02438993
89	NFYA_21822215_ChIP-Seq_K562_Human	1.02389800
90	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.00840061
91	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.99879847
92	JUN_21703547_ChIP-Seq_K562_Human	0.99604697
93	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.99189355
94	FOXP3_21729870_ChIP-Seq_TREG_Human	0.99113251
95	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.98682275
96	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97264506
97	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.96121668
98	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.96015530
99	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.95871301
100	GATA3_26560356_Chip-Seq_TH2_Human	0.95588278

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000372_irregular_coat_pigmentation	3.56725708
2	MP0004147_increased_porphyrin_level	3.32206490
3	MP0003195_calcinosis	3.26821035
4	MP0008057_abnormal_DNA_replication	2.75299457
5	MP0005551_abnormal_eye_electrophysiolog	2.55453048
6	MP0008995_early_reproductive_senescence	2.48180666
7	MP0001986_abnormal_taste_sensitivity	2.44735720
8	MP0003136_yellow_coat_color	2.42142898
9	MP0003646_muscle_fatigue	2.27274317
10	MP0005171_absent_coat_pigmentation	2.19181069
11	MP0002102_abnormal_ear_morphology	2.15486896
12	MP0002837_dystrophic_cardiac_calcinosis	2.09638948
13	MP0008058_abnormal_DNA_repair	2.08048426
14	MP0004043_abnormal_pH_regulation	2.04371535
15	MP0008877_abnormal_DNA_methylation	2.01340478
16	MP0002138_abnormal_hepatobiliary_system	1.98708158
17	MP0003950_abnormal_plasma_membrane	1.91630064
18	MP0000569_abnormal_digit_pigmentation	1.74427833
19	MP0005253_abnormal_eye_physiology	1.69658938
20	MP0009046_muscle_twitch	1.69553134
21	MP0004145_abnormal_muscle_electrophysio	1.65242170
22	MP0010094_abnormal_chromosome_stability	1.65173641
23	MP0003718_maternal_effect	1.64632184
24	MP0005397_hematopoietic_system_phenotyp	1.62913135
25	MP0001545_abnormal_hematopoietic_system	1.62913135
26	MP0005645_abnormal_hypothalamus_physiol	1.60886213
27	MP0001764_abnormal_homeostasis	1.51902160
28	MP0008872_abnormal_physiological_respon	1.50626614
29	MP0002095_abnormal_skin_pigmentation	1.49214200
30	MP0002396_abnormal_hematopoietic_system	1.48908498
31	MP0000427_abnormal_hair_cycle	1.45542717
32	MP0005174_abnormal_tail_pigmentation	1.41213366
33	MP0003045_fibrosis	1.40841395
34	MP0003786_premature_aging	1.40804536
35	MP0003656_abnormal_erythrocyte_physiolo	1.37464640
36	MP0001968_abnormal_touch/_nociception	1.36915878
37	MP0006036_abnormal_mitochondrial_physio	1.36352889
38	MP0005310_abnormal_salivary_gland	1.35676227
39	MP0000015_abnormal_ear_pigmentation	1.32679376
40	MP0006276_abnormal_autonomic_nervous	1.30704953
41	MP0006035_abnormal_mitochondrial_morpho	1.30672049
42	MP0002653_abnormal_ependyma_morphology	1.27940122
43	MP0000383_abnormal_hair_follicle	1.27493110
44	MP0005075_abnormal_melanosome_morpholog	1.21884241
45	MP0001501_abnormal_sleep_pattern	1.20061145
46	MP0003698_abnormal_male_reproductive	1.17794608
47	MP0005646_abnormal_pituitary_gland	1.17638859
48	MP0009697_abnormal_copulation	1.15406508
49	MP0005410_abnormal_fertilization	1.15217083
50	MP0001929_abnormal_gametogenesis	1.15049553
51	MP0008775_abnormal_heart_ventricle	1.14449928
52	MP0002876_abnormal_thyroid_physiology	1.12378756
53	MP0009278_abnormal_bone_marrow	1.11614011
54	MP0001984_abnormal_olfaction	1.09355900
55	MP0004142_abnormal_muscle_tone	1.08267505
56	MP0008875_abnormal_xenobiotic_pharmacok	1.07484935
57	MP0006072_abnormal_retinal_apoptosis	1.06287974
58	MP0002736_abnormal_nociception_after	1.05489261
59	MP0002210_abnormal_sex_determination	1.05306772
60	MP0005670_abnormal_white_adipose	1.02567094
61	MP0001486_abnormal_startle_reflex	1.01218154
62	MP0003890_abnormal_embryonic-extraembry	1.01162093
63	MP0003806_abnormal_nucleotide_metabolis	0.98052997
64	MP0001970_abnormal_pain_threshold	0.97987002
65	MP0005395_other_phenotype	0.97190705
66	MP0005220_abnormal_exocrine_pancreas	0.96855132
67	MP0004134_abnormal_chest_morphology	0.95344142
68	MP0009745_abnormal_behavioral_response	0.91974334
69	MP0002735_abnormal_chemical_nociception	0.90879762
70	MP0002254_reproductive_system_inflammat	0.90814476
71	MP0005647_abnormal_sex_gland	0.89036569
72	MP0002139_abnormal_hepatobiliary_system	0.88196055
73	MP0002638_abnormal_pupillary_reflex	0.87640983
74	MP0004381_abnormal_hair_follicle	0.86434493
75	MP0005266_abnormal_metabolism	0.86297242
76	MP0002272_abnormal_nervous_system	0.86168723
77	MP0008789_abnormal_olfactory_epithelium	0.86075826
78	MP0000631_abnormal_neuroendocrine_gland	0.85422237
79	MP0002938_white_spotting	0.85195913
80	MP0002229_neurodegeneration	0.84732523
81	MP0002733_abnormal_thermal_nociception	0.84147662
82	MP0002693_abnormal_pancreas_physiology	0.80768107
83	MP0001873_stomach_inflammation	0.77618598
84	MP0002168_other_aberrant_phenotype	0.77440961
85	MP0001145_abnormal_male_reproductive	0.77268108
86	MP0000653_abnormal_sex_gland	0.74605561
87	MP0006054_spinal_hemorrhage	0.74503059
88	MP0003111_abnormal_nucleus_morphology	0.73397235
89	MP0005083_abnormal_biliary_tract	0.72967423
90	MP0005195_abnormal_posterior_eye	0.72681536
91	MP0003879_abnormal_hair_cell	0.71714240
92	MP0002572_abnormal_emotion/affect_behav	0.71141228
93	MP0000358_abnormal_cell_content/	0.68183278
94	MP0000371_diluted_coat_color	0.68030279
95	MP0002234_abnormal_pharynx_morphology	0.67975013
96	MP0002163_abnormal_gland_morphology	0.66881873
97	MP0004085_abnormal_heartbeat	0.64113705
98	MP0001529_abnormal_vocalization	0.62896361
99	MP0005332_abnormal_amino_acid	0.62691074
100	MP0005394_taste/olfaction_phenotype	0.62652862

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.25480627
2	Pancreatic fibrosis (HP:0100732)	3.84852451
3	Attenuation of retinal blood vessels (HP:0007843)	3.81798925
4	Abnormality of midbrain morphology (HP:0002418)	3.59998719
5	Molar tooth sign on MRI (HP:0002419)	3.59998719
6	True hermaphroditism (HP:0010459)	3.58247283
7	Chronic hepatic failure (HP:0100626)	3.37698012
8	Congenital stationary night blindness (HP:0007642)	3.29315040
9	Nephronophthisis (HP:0000090)	3.14224615
10	Abnormality of the renal cortex (HP:0011035)	3.01178422
11	Abnormality of the renal medulla (HP:0100957)	2.81771443
12	Bony spicule pigmentary retinopathy (HP:0007737)	2.79907018
13	Abnormal rod and cone electroretinograms (HP:0008323)	2.69754257
14	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.68707103
15	Cystic liver disease (HP:0006706)	2.68134246
16	Hyperventilation (HP:0002883)	2.64868100
17	Chromsome breakage (HP:0040012)	2.62205360
18	Ileus (HP:0002595)	2.45804224
19	Gaze-evoked nystagmus (HP:0000640)	2.41822105
20	Abnormality of homocysteine metabolism (HP:0010919)	2.40136619
21	Homocystinuria (HP:0002156)	2.40136619
22	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.38193093
23	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.37332157
24	Abolished electroretinogram (ERG) (HP:0000550)	2.37129956
25	Renal cortical cysts (HP:0000803)	2.33777974
26	Absent speech (HP:0001344)	2.33730733
27	Type II lissencephaly (HP:0007260)	2.32428880
28	Congenital sensorineural hearing impairment (HP:0008527)	2.29028697
29	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.29014314
30	Absent/shortened dynein arms (HP:0200106)	2.29014314
31	Poikiloderma (HP:0001029)	2.28193708
32	Protruding tongue (HP:0010808)	2.26365004
33	Abnormal ciliary motility (HP:0012262)	2.25580556
34	Pendular nystagmus (HP:0012043)	2.23494425
35	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.23039540
36	Medial flaring of the eyebrow (HP:0010747)	2.22875473
37	Polydipsia (HP:0001959)	2.20223776
38	Abnormal drinking behavior (HP:0030082)	2.20223776
39	Severe visual impairment (HP:0001141)	2.14371994
40	Sclerocornea (HP:0000647)	2.13007063
41	Duplicated collecting system (HP:0000081)	2.12186337
42	Small hand (HP:0200055)	2.11989867
43	Cholecystitis (HP:0001082)	2.11224838
44	Abnormal gallbladder physiology (HP:0012438)	2.11224838
45	Tubular atrophy (HP:0000092)	2.10052114
46	Poikilocytosis (HP:0004447)	2.08699042
47	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.07299406
48	Enlarged kidneys (HP:0000105)	2.06941418
49	Abnormality of the renal collecting system (HP:0004742)	2.04446373
50	Sloping forehead (HP:0000340)	2.02395874
51	Hypoplastic iliac wings (HP:0002866)	2.00901454
52	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.00310819
53	Central scotoma (HP:0000603)	1.99430600
54	Amelogenesis imperfecta (HP:0000705)	1.99005429
55	Cerebellar dysplasia (HP:0007033)	1.98817577
56	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.97923189
57	Abnormality of DNA repair (HP:0003254)	1.96695909
58	Abnormality of the pons (HP:0007361)	1.96158357
59	Febrile seizures (HP:0002373)	1.96005910
60	Congenital hepatic fibrosis (HP:0002612)	1.95528375
61	Furrowed tongue (HP:0000221)	1.91839548
62	Astigmatism (HP:0000483)	1.87317141
63	Male pseudohermaphroditism (HP:0000037)	1.83723397
64	Constricted visual fields (HP:0001133)	1.82404849
65	Abnormal biliary tract physiology (HP:0012439)	1.82047053
66	Bile duct proliferation (HP:0001408)	1.82047053
67	Abnormality of dental color (HP:0011073)	1.79854062
68	Prominent nasal bridge (HP:0000426)	1.79825956
69	Retinal dysplasia (HP:0007973)	1.79706147
70	Oculomotor apraxia (HP:0000657)	1.79689144
71	Anencephaly (HP:0002323)	1.79531001
72	Increased corneal curvature (HP:0100692)	1.79278496
73	Keratoconus (HP:0000563)	1.79278496
74	Polyuria (HP:0000103)	1.78854323
75	Photophobia (HP:0000613)	1.78839417
76	Hypoplasia of the pons (HP:0012110)	1.78812667
77	Abnormality of sulfur amino acid metabolism (HP:0004339)	1.78443998
78	Abnormal respiratory epithelium morphology (HP:0012253)	1.78013069
79	Abnormal respiratory motile cilium morphology (HP:0005938)	1.78013069
80	Increased CSF lactate (HP:0002490)	1.76222144
81	Birth length less than 3rd percentile (HP:0003561)	1.75749858
82	Ketoacidosis (HP:0001993)	1.75012320
83	Retinitis pigmentosa (HP:0000510)	1.73220916
84	Type II diabetes mellitus (HP:0005978)	1.72682330
85	Decreased circulating renin level (HP:0003351)	1.72458936
86	Tachypnea (HP:0002789)	1.71875349
87	Decreased central vision (HP:0007663)	1.71380195
88	Keratitis (HP:0000491)	1.71056320
89	Gait imbalance (HP:0002141)	1.65532378
90	Congenital primary aphakia (HP:0007707)	1.64902964
91	Abnormality of the prostate (HP:0008775)	1.64155126
92	Clumsiness (HP:0002312)	1.63796627
93	Reticulocytosis (HP:0001923)	1.62983788
94	Gonadotropin excess (HP:0000837)	1.62252441
95	Optic disc pallor (HP:0000543)	1.62243659
96	CNS demyelination (HP:0007305)	1.61764894
97	Hepatocellular necrosis (HP:0001404)	1.60475540
98	Highly arched eyebrow (HP:0002553)	1.60362848
99	Postaxial foot polydactyly (HP:0001830)	1.59615641
100	Abnormality of chromosome stability (HP:0003220)	1.58895512

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.10148602
2	BMPR1B	2.87497763
3	ZAK	2.60037612
4	MAPK13	2.48378218
5	MAP4K2	2.43721775
6	ADRBK2	2.30928514
7	PINK1	2.24391449
8	BRSK2	2.06917188
9	MAP3K4	2.02931976
10	LATS1	1.95364850
11	ACVR1B	1.86909518
12	TRIM28	1.78515761
13	INSRR	1.77861708
14	WNK3	1.71065901
15	NUAK1	1.69306227
16	NTRK3	1.56664417
17	BMPR2	1.44826938
18	STK38L	1.43175862
19	STK3	1.42782551
20	WNK4	1.42476376
21	PLK4	1.40685761
22	EIF2AK3	1.31963437
23	MST4	1.31206025
24	RIPK4	1.30847394
25	TLK1	1.22878094
26	MARK3	1.21974469
27	STK39	1.21583912
28	CASK	1.21052538
29	TEC	1.20334080
30	WEE1	1.17731185
31	GRK1	1.17265832
32	CCNB1	1.13608399
33	PIK3CG	1.10697646
34	MKNK2	1.06005699
35	PKN1	1.02526586
36	TNIK	1.01388669
37	MAP2K7	0.98833911
38	OXSR1	0.96708124
39	DYRK3	0.96037407
40	MAPKAPK5	0.93359083
41	ERBB3	0.89734652
42	TXK	0.89287851
43	TAOK3	0.89250335
44	IRAK1	0.88043452
45	BCR	0.87215823
46	PDK2	0.86971873
47	CSNK1A1L	0.85415749
48	CHEK2	0.83328728
49	MAPKAPK3	0.80214536
50	DAPK2	0.79492904
51	MKNK1	0.78970614
52	TNK2	0.78559382
53	ADRBK1	0.77687144
54	PTK2B	0.75935611
55	AKT3	0.74047402
56	NEK2	0.72888921
57	ATR	0.71251960
58	PAK3	0.68554775
59	FER	0.66879261
60	MAP2K6	0.66802305
61	EEF2K	0.64932847
62	CSNK1G3	0.60959064
63	CSNK1G2	0.59077953
64	MAP3K2	0.58803567
65	RPS6KA5	0.58510492
66	NME1	0.57865680
67	PRKAA2	0.57465419
68	PRKCQ	0.57301855
69	KSR1	0.55975001
70	TRPM7	0.55299832
71	BTK	0.54683545
72	IKBKB	0.54297477
73	TTK	0.53972377
74	NLK	0.53194264
75	TGFBR1	0.52782410
76	SYK	0.52673729
77	BCKDK	0.51362401
78	CLK1	0.51310517
79	RPS6KA4	0.51075169
80	ATM	0.47439878
81	CSNK1G1	0.45209011
82	PLK3	0.39857551
83	PRKCE	0.39490172
84	EIF2AK2	0.39283047
85	PIM1	0.36476697
86	KIT	0.35418517
87	DYRK2	0.35262624
88	CSNK1A1	0.34874065
89	PLK1	0.34780422
90	STK4	0.34111426
91	RAF1	0.33247469
92	PRKAA1	0.33040044
93	CDK1	0.31669825
94	PLK2	0.30349087
95	CHEK1	0.30110279
96	YES1	0.29899687
97	MAPK11	0.29374874
98	MARK1	0.29291386
99	SIK2	0.29054608
100	CDC7	0.28775791

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Butanoate metabolism_Homo sapiens_hsa00650	3.47308277
2	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.44174381
3	Homologous recombination_Homo sapiens_hsa03440	3.17862309
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.95833752
5	Phototransduction_Homo sapiens_hsa04744	2.83964731
6	One carbon pool by folate_Homo sapiens_hsa00670	2.67081176
7	Olfactory transduction_Homo sapiens_hsa04740	2.25915643
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.21441965
9	Fanconi anemia pathway_Homo sapiens_hsa03460	2.20019696
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.17859229
11	Basal transcription factors_Homo sapiens_hsa03022	2.16991168
12	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.03621386
13	Nicotine addiction_Homo sapiens_hsa05033	1.89681673
14	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.88077293
15	Asthma_Homo sapiens_hsa05310	1.85935591
16	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.80385212
17	Propanoate metabolism_Homo sapiens_hsa00640	1.69374490
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.65635282
19	ABC transporters_Homo sapiens_hsa02010	1.64866446
20	Non-homologous end-joining_Homo sapiens_hsa03450	1.63939374
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.63772559
22	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.59406573
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.59319703
24	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.51949530
25	Nitrogen metabolism_Homo sapiens_hsa00910	1.51766020
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.48140987
27	Ether lipid metabolism_Homo sapiens_hsa00565	1.45080565
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.37617120
29	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.35608992
30	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.33312253
31	Taste transduction_Homo sapiens_hsa04742	1.29493841
32	Graft-versus-host disease_Homo sapiens_hsa05332	1.25454739
33	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.20632610
34	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.20002940
35	Allograft rejection_Homo sapiens_hsa05330	1.17990329
36	RNA polymerase_Homo sapiens_hsa03020	1.14958306
37	Type I diabetes mellitus_Homo sapiens_hsa04940	1.13573561
38	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.13395108
39	RNA degradation_Homo sapiens_hsa03018	1.09873899
40	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.08017595
41	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.07947959
42	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.06327755
43	Fatty acid metabolism_Homo sapiens_hsa01212	1.06004222
44	Sphingolipid metabolism_Homo sapiens_hsa00600	1.00795605
45	Steroid biosynthesis_Homo sapiens_hsa00100	0.98012477
46	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.96636671
47	RNA transport_Homo sapiens_hsa03013	0.94405215
48	Morphine addiction_Homo sapiens_hsa05032	0.91796847
49	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.91431279
50	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.90224896
51	Calcium signaling pathway_Homo sapiens_hsa04020	0.86565485
52	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.86489427
53	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.83474470
54	Peroxisome_Homo sapiens_hsa04146	0.83007118
55	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.82666370
56	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.80903457
57	Protein export_Homo sapiens_hsa03060	0.76781952
58	Type II diabetes mellitus_Homo sapiens_hsa04930	0.76497085
59	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.75440237
60	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.73568797
61	Retinol metabolism_Homo sapiens_hsa00830	0.72791995
62	Base excision repair_Homo sapiens_hsa03410	0.71627640
63	Glycerolipid metabolism_Homo sapiens_hsa00561	0.71508746
64	GABAergic synapse_Homo sapiens_hsa04727	0.70671552
65	Purine metabolism_Homo sapiens_hsa00230	0.68166091
66	Lysine degradation_Homo sapiens_hsa00310	0.65641130
67	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.65443082
68	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.63789454
69	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.62354780
70	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.61231956
71	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.60782046
72	Chemical carcinogenesis_Homo sapiens_hsa05204	0.60201163
73	Nucleotide excision repair_Homo sapiens_hsa03420	0.59324513
74	Metabolic pathways_Homo sapiens_hsa01100	0.57076228
75	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.54935903
76	Pyrimidine metabolism_Homo sapiens_hsa00240	0.54534831
77	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.51985090
78	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.51644427
79	Salivary secretion_Homo sapiens_hsa04970	0.51460455
80	Serotonergic synapse_Homo sapiens_hsa04726	0.50700681
81	Fatty acid degradation_Homo sapiens_hsa00071	0.49413425
82	Fat digestion and absorption_Homo sapiens_hsa04975	0.48488251
83	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.46243624
84	Primary immunodeficiency_Homo sapiens_hsa05340	0.45029875
85	Herpes simplex infection_Homo sapiens_hsa05168	0.40978205
86	Circadian entrainment_Homo sapiens_hsa04713	0.40639949
87	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.39579847
88	African trypanosomiasis_Homo sapiens_hsa05143	0.39005322
89	Mismatch repair_Homo sapiens_hsa03430	0.38938770
90	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.38154828
91	Fatty acid elongation_Homo sapiens_hsa00062	0.37015990
92	Caffeine metabolism_Homo sapiens_hsa00232	0.35676442
93	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.35626444
94	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.31653198
95	Regulation of autophagy_Homo sapiens_hsa04140	0.31377190
96	Oocyte meiosis_Homo sapiens_hsa04114	0.31297884
97	Pyruvate metabolism_Homo sapiens_hsa00620	0.30961595
98	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.30587309
99	Cell cycle_Homo sapiens_hsa04110	0.29607256
100	Circadian rhythm_Homo sapiens_hsa04710	0.28558777

PTPRVP

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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