ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	platelet dense granule organization (GO:0060155)	4.09760379
2	regulation of meiosis I (GO:0060631)	3.81475141
3	somite rostral/caudal axis specification (GO:0032525)	3.74791546
4	detection of light stimulus involved in visual perception (GO:0050908)	3.63115584
5	detection of light stimulus involved in sensory perception (GO:0050962)	3.63115584
6	cellular ketone body metabolic process (GO:0046950)	3.58877907
7	piRNA metabolic process (GO:0034587)	3.50893821
8	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.50160647
9	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.41615878
10	DNA double-strand break processing (GO:0000729)	3.41444248
11	reciprocal DNA recombination (GO:0035825)	3.40093088
12	reciprocal meiotic recombination (GO:0007131)	3.40093088
13	L-fucose catabolic process (GO:0042355)	3.36233652
14	fucose catabolic process (GO:0019317)	3.36233652
15	L-fucose metabolic process (GO:0042354)	3.36233652
16	axoneme assembly (GO:0035082)	3.34959827
17	protein neddylation (GO:0045116)	3.34398392
18	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.33924615
19	ketone body metabolic process (GO:1902224)	3.33418113
20	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.32620986
21	regulation of mesoderm development (GO:2000380)	3.29864961
22	meiotic chromosome segregation (GO:0045132)	3.29710425
23	DNA methylation involved in gamete generation (GO:0043046)	3.28286723
24	indolalkylamine metabolic process (GO:0006586)	3.27103793
25	protein K11-linked deubiquitination (GO:0035871)	3.23486609
26	epithelial cilium movement (GO:0003351)	3.23161944
27	rhodopsin mediated signaling pathway (GO:0016056)	3.22522773
28	sphingoid metabolic process (GO:0046519)	3.18606990
29	photoreceptor cell maintenance (GO:0045494)	3.18461297
30	behavioral response to nicotine (GO:0035095)	3.16227794
31	reverse cholesterol transport (GO:0043691)	3.14849105
32	positive regulation of prostaglandin secretion (GO:0032308)	3.13809084
33	response to pheromone (GO:0019236)	3.13567579
34	tryptophan catabolic process (GO:0006569)	3.12380464
35	indole-containing compound catabolic process (GO:0042436)	3.12380464
36	indolalkylamine catabolic process (GO:0046218)	3.12380464
37	DNA deamination (GO:0045006)	3.07710456
38	phospholipid homeostasis (GO:0055091)	3.04212777
39	high-density lipoprotein particle remodeling (GO:0034375)	3.01485355
40	kynurenine metabolic process (GO:0070189)	2.98311195
41	retinal cone cell development (GO:0046549)	2.98304321
42	sphingosine metabolic process (GO:0006670)	2.98025111
43	cilium or flagellum-dependent cell motility (GO:0001539)	2.96680393
44	branched-chain amino acid catabolic process (GO:0009083)	2.96164970
45	C4-dicarboxylate transport (GO:0015740)	2.93997237
46	positive regulation of meiosis (GO:0045836)	2.90559728
47	aggressive behavior (GO:0002118)	2.90475952
48	adaptation of signaling pathway (GO:0023058)	2.89992263
49	amino acid salvage (GO:0043102)	2.85504291
50	L-methionine salvage (GO:0071267)	2.85504291
51	L-methionine biosynthetic process (GO:0071265)	2.85504291
52	endoderm formation (GO:0001706)	2.84902392
53	cellular biogenic amine catabolic process (GO:0042402)	2.84153143
54	amine catabolic process (GO:0009310)	2.84153143
55	cilium movement (GO:0003341)	2.83291470
56	tachykinin receptor signaling pathway (GO:0007217)	2.82615340
57	establishment of protein localization to Golgi (GO:0072600)	2.79424635
58	replication fork processing (GO:0031297)	2.75258178
59	signal transduction involved in regulation of gene expression (GO:0023019)	2.75115973
60	positive regulation of meiotic cell cycle (GO:0051446)	2.75088290
61	regulation of cilium movement (GO:0003352)	2.74017726
62	neuronal action potential propagation (GO:0019227)	2.69030641
63	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.68681395
64	auditory receptor cell stereocilium organization (GO:0060088)	2.65095360
65	tryptophan metabolic process (GO:0006568)	2.64899196
66	response to nitrosative stress (GO:0051409)	2.62840899
67	organic cation transport (GO:0015695)	2.62123825
68	heme transport (GO:0015886)	2.60408763
69	adenosine metabolic process (GO:0046085)	2.58440838
70	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.57271117
71	male meiosis I (GO:0007141)	2.56435920
72	aromatic amino acid family catabolic process (GO:0009074)	2.53858665
73	cell wall macromolecule metabolic process (GO:0044036)	2.53267678
74	S-adenosylmethionine metabolic process (GO:0046500)	2.50804062
75	water-soluble vitamin biosynthetic process (GO:0042364)	2.49907142
76	centriole replication (GO:0007099)	2.48778697
77	preassembly of GPI anchor in ER membrane (GO:0016254)	2.47274576
78	double-strand break repair via homologous recombination (GO:0000724)	2.46987160
79	diol metabolic process (GO:0034311)	2.46720424
80	sulfation (GO:0051923)	2.46429553
81	respiratory chain complex IV assembly (GO:0008535)	2.45996399
82	protein targeting to Golgi (GO:0000042)	2.45749097
83	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.45624422
84	recombinational repair (GO:0000725)	2.45215438
85	fatty acid elongation (GO:0030497)	2.44397871
86	photoreceptor cell development (GO:0042461)	2.43450109
87	branched-chain amino acid metabolic process (GO:0009081)	2.42096418
88	male meiosis (GO:0007140)	2.40743597
89	negative regulation of activin receptor signaling pathway (GO:0032926)	2.40309061
90	regulation of prostaglandin secretion (GO:0032306)	2.39450314
91	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.38591519
92	proline transport (GO:0015824)	2.37879137
93	multicellular organism reproduction (GO:0032504)	2.37848835
94	cell migration involved in gastrulation (GO:0042074)	2.36541742
95	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.35490125
96	proteasome assembly (GO:0043248)	2.35439883
97	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.32178895
98	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.32123291
99	left/right axis specification (GO:0070986)	2.31393695
100	mannosylation (GO:0097502)	2.31378624

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.46238316
2	VDR_22108803_ChIP-Seq_LS180_Human	3.07147323
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.02199012
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.87861054
5	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.69628670
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.68387838
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.43103734
8	P300_19829295_ChIP-Seq_ESCs_Human	2.33369416
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.27078056
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.16998464
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.12888828
12	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.08419924
13	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.01410742
14	EZH2_22144423_ChIP-Seq_EOC_Human	1.99840390
15	EWS_26573619_Chip-Seq_HEK293_Human	1.98030010
16	FUS_26573619_Chip-Seq_HEK293_Human	1.94230455
17	BCAT_22108803_ChIP-Seq_LS180_Human	1.89445264
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.85156278
19	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.83245377
20	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.82397305
21	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.77225804
22	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.76345375
23	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.74907441
24	CBP_20019798_ChIP-Seq_JUKART_Human	1.74907441
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.74748489
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.68650845
27	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.64308890
28	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.63942535
29	ER_23166858_ChIP-Seq_MCF-7_Human	1.63878808
30	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.63616767
31	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.63261379
32	TP53_22573176_ChIP-Seq_HFKS_Human	1.62596661
33	SOX2_19829295_ChIP-Seq_ESCs_Human	1.61358162
34	NANOG_19829295_ChIP-Seq_ESCs_Human	1.61358162
35	STAT3_23295773_ChIP-Seq_U87_Human	1.59150546
36	SMAD4_21799915_ChIP-Seq_A2780_Human	1.58626462
37	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.58020641
38	TCF4_22108803_ChIP-Seq_LS180_Human	1.56029000
39	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.54279772
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.52472571
41	TCF4_23295773_ChIP-Seq_U87_Human	1.52403078
42	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.51999888
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.51363503
44	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.47741679
45	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.47020734
46	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.45706090
47	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.45689162
48	AR_25329375_ChIP-Seq_VCAP_Human	1.44881969
49	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.44269741
50	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.43680662
51	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.40596542
52	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.39599315
53	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.38793600
54	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.38092436
55	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.37423041
56	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.36098616
57	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.35687574
58	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33419373
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.31883329
60	IRF1_19129219_ChIP-ChIP_H3396_Human	1.30300663
61	CDX2_22108803_ChIP-Seq_LS180_Human	1.28558522
62	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.26013625
63	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.25894121
64	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.25698539
65	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.24963732
66	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.24557521
67	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.24557521
68	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23582945
69	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.22278211
70	RUNX2_22187159_ChIP-Seq_PCA_Human	1.21872700
71	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.18849031
72	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.16539260
73	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.16086540
74	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.15651257
75	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.14519676
76	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.14244004
77	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.13330470
78	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.13182987
79	ELK1_19687146_ChIP-ChIP_HELA_Human	1.12583632
80	AR_20517297_ChIP-Seq_VCAP_Human	1.11732350
81	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.10787748
82	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.10258925
83	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08185499
84	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.07919290
85	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.07871572
86	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.07039853
87	NCOR_22424771_ChIP-Seq_293T_Human	1.07025918
88	P53_22387025_ChIP-Seq_ESCs_Mouse	1.07023530
89	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.06148542
90	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.05962428
91	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.05512429
92	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.05130307
93	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.03755293
94	HTT_18923047_ChIP-ChIP_STHdh_Human	1.02195505
95	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.02086532
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.01794199
97	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.01627017
98	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01627017
99	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.01593414
100	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.00912178

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	3.91799980
2	MP0003195_calcinosis	3.55774086
3	MP0000372_irregular_coat_pigmentation	3.49256024
4	MP0002837_dystrophic_cardiac_calcinosis	3.18690326
5	MP0003890_abnormal_embryonic-extraembry	2.99000065
6	MP0002102_abnormal_ear_morphology	2.79203435
7	MP0005551_abnormal_eye_electrophysiolog	2.71887846
8	MP0003646_muscle_fatigue	2.52942224
9	MP0008877_abnormal_DNA_methylation	2.44269091
10	MP0002254_reproductive_system_inflammat	2.43234767
11	MP0004147_increased_porphyrin_level	2.40603001
12	MP0008872_abnormal_physiological_respon	2.18191826
13	MP0002736_abnormal_nociception_after	2.08616940
14	MP0000569_abnormal_digit_pigmentation	2.07655372
15	MP0001984_abnormal_olfaction	2.07282890
16	MP0006292_abnormal_olfactory_placode	2.03823393
17	MP0002938_white_spotting	2.03719144
18	MP0004133_heterotaxia	2.00573604
19	MP0005174_abnormal_tail_pigmentation	1.88839221
20	MP0001968_abnormal_touch/_nociception	1.88634493
21	MP0005075_abnormal_melanosome_morpholog	1.70148292
22	MP0002138_abnormal_hepatobiliary_system	1.68955827
23	MP0005171_absent_coat_pigmentation	1.68242842
24	MP0005253_abnormal_eye_physiology	1.65185081
25	MP0006054_spinal_hemorrhage	1.63045078
26	MP0001485_abnormal_pinna_reflex	1.62810595
27	MP0006072_abnormal_retinal_apoptosis	1.62492492
28	MP0000427_abnormal_hair_cycle	1.55410960
29	MP0002653_abnormal_ependyma_morphology	1.54731183
30	MP0005410_abnormal_fertilization	1.53771362
31	MP0005646_abnormal_pituitary_gland	1.53093760
32	MP0008004_abnormal_stomach_pH	1.51058435
33	MP0002095_abnormal_skin_pigmentation	1.47257739
34	MP0001529_abnormal_vocalization	1.42969359
35	MP0005394_taste/olfaction_phenotype	1.39243776
36	MP0005499_abnormal_olfactory_system	1.39243776
37	MP0002277_abnormal_respiratory_mucosa	1.38827321
38	MP0006276_abnormal_autonomic_nervous	1.36835419
39	MP0004742_abnormal_vestibular_system	1.33356463
40	MP0000383_abnormal_hair_follicle	1.30966151
41	MP0008995_early_reproductive_senescence	1.30836261
42	MP0002735_abnormal_chemical_nociception	1.30457343
43	MP0005084_abnormal_gallbladder_morpholo	1.30165367
44	MP0003718_maternal_effect	1.29488551
45	MP0001486_abnormal_startle_reflex	1.28274032
46	MP0009046_muscle_twitch	1.23958541
47	MP0001764_abnormal_homeostasis	1.22638428
48	MP0008875_abnormal_xenobiotic_pharmacok	1.21401721
49	MP0003787_abnormal_imprinting	1.20045096
50	MP0008789_abnormal_olfactory_epithelium	1.19843747
51	MP0004142_abnormal_muscle_tone	1.19268919
52	MP0003119_abnormal_digestive_system	1.17309010
53	MP0005085_abnormal_gallbladder_physiolo	1.16499134
54	MP0002090_abnormal_vision	1.15948745
55	MP0001986_abnormal_taste_sensitivity	1.15314947
56	MP0004381_abnormal_hair_follicle	1.15017194
57	MP0009745_abnormal_behavioral_response	1.13266301
58	MP0002163_abnormal_gland_morphology	1.13034232
59	MP0004215_abnormal_myocardial_fiber	1.10637748
60	MP0002272_abnormal_nervous_system	1.08628450
61	MP0009840_abnormal_foam_cell	1.08107159
62	MP0003880_abnormal_central_pattern	1.07153606
63	MP0002638_abnormal_pupillary_reflex	1.06538177
64	MP0003878_abnormal_ear_physiology	1.03317588
65	MP0005377_hearing/vestibular/ear_phenot	1.03317588
66	MP0001501_abnormal_sleep_pattern	1.01811619
67	MP0002876_abnormal_thyroid_physiology	1.00137746
68	MP0005187_abnormal_penis_morphology	0.97411817
69	MP0005647_abnormal_sex_gland	0.97015609
70	MP0003252_abnormal_bile_duct	0.96606295
71	MP0003698_abnormal_male_reproductive	0.92895624
72	MP0003186_abnormal_redox_activity	0.91688327
73	MP0008058_abnormal_DNA_repair	0.91135753
74	MP0008775_abnormal_heart_ventricle	0.90238149
75	MP0002557_abnormal_social/conspecific_i	0.89907648
76	MP0004043_abnormal_pH_regulation	0.88870339
77	MP0001929_abnormal_gametogenesis	0.88437370
78	MP0000230_abnormal_systemic_arterial	0.88408991
79	MP0003937_abnormal_limbs/digits/tail_de	0.88088861
80	MP0001970_abnormal_pain_threshold	0.86551243
81	MP0005167_abnormal_blood-brain_barrier	0.84854460
82	MP0006036_abnormal_mitochondrial_physio	0.84803067
83	MP0000653_abnormal_sex_gland	0.82711323
84	MP0000631_abnormal_neuroendocrine_gland	0.81651030
85	MP0001324_abnormal_eye_pigmentation	0.81143275
86	MP0005408_hypopigmentation	0.80116160
87	MP0002210_abnormal_sex_determination	0.79982965
88	MP0004484_altered_response_of	0.78737609
89	MP0005645_abnormal_hypothalamus_physiol	0.77675462
90	MP0001963_abnormal_hearing_physiology	0.77140599
91	MP0005389_reproductive_system_phenotype	0.75999925
92	MP0005365_abnormal_bile_salt	0.75420231
93	MP0005636_abnormal_mineral_homeostasis	0.75160384
94	MP0005195_abnormal_posterior_eye	0.74863675
95	MP0000647_abnormal_sebaceous_gland	0.74850632
96	MP0010329_abnormal_lipoprotein_level	0.73354893
97	MP0004085_abnormal_heartbeat	0.73354608
98	MP0006035_abnormal_mitochondrial_morpho	0.72758027
99	MP0000015_abnormal_ear_pigmentation	0.71196901
100	MP0001145_abnormal_male_reproductive	0.70478399

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.93169134
2	Hypoplasia of the fovea (HP:0007750)	3.58735067
3	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.58735067
4	Progressive inability to walk (HP:0002505)	3.56861476
5	Intestinal atresia (HP:0011100)	3.30850482
6	Abnormality of midbrain morphology (HP:0002418)	3.26856041
7	Molar tooth sign on MRI (HP:0002419)	3.26856041
8	True hermaphroditism (HP:0010459)	3.18843290
9	Pancreatic fibrosis (HP:0100732)	3.17969956
10	Congenital stationary night blindness (HP:0007642)	3.12579059
11	Abnormality of the fovea (HP:0000493)	3.11106399
12	Attenuation of retinal blood vessels (HP:0007843)	3.09031224
13	Abnormal rod and cone electroretinograms (HP:0008323)	3.08848098
14	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.08562058
15	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.97337844
16	3-Methylglutaconic aciduria (HP:0003535)	2.93284702
17	Abolished electroretinogram (ERG) (HP:0000550)	2.82999116
18	Nephronophthisis (HP:0000090)	2.79486336
19	Chronic hepatic failure (HP:0100626)	2.76280854
20	Decreased central vision (HP:0007663)	2.73671430
21	Abnormality of the renal cortex (HP:0011035)	2.72677710
22	Abnormality of the renal medulla (HP:0100957)	2.59859499
23	Gaze-evoked nystagmus (HP:0000640)	2.52290619
24	Short tibia (HP:0005736)	2.47069951
25	Aplasia/Hypoplasia of the macula (HP:0008059)	2.43546845
26	Medial flaring of the eyebrow (HP:0010747)	2.41869701
27	Gonadal dysgenesis (HP:0000133)	2.37534471
28	Colon cancer (HP:0003003)	2.37250090
29	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.35582096
30	Inability to walk (HP:0002540)	2.35038043
31	Cerebellar dysplasia (HP:0007033)	2.32285088
32	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.27856892
33	Abnormality of alanine metabolism (HP:0010916)	2.27856892
34	Hyperalaninemia (HP:0003348)	2.27856892
35	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.25992285
36	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.23652990
37	Type II lissencephaly (HP:0007260)	2.22179863
38	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.17459715
39	Hyperglycinemia (HP:0002154)	2.17446365
40	Central scotoma (HP:0000603)	2.17000788
41	Abnormality of the labia minora (HP:0012880)	2.12332332
42	Renal cortical cysts (HP:0000803)	2.11991356
43	Abnormality of macular pigmentation (HP:0008002)	2.10084081
44	Hyperglycinuria (HP:0003108)	2.09818445
45	Cystic liver disease (HP:0006706)	2.08873366
46	Hypomagnesemia (HP:0002917)	2.08555080
47	Double outlet right ventricle (HP:0001719)	2.04881323
48	Congenital malformation of the right heart (HP:0011723)	2.04881323
49	Nephrogenic diabetes insipidus (HP:0009806)	2.03965431
50	Bilateral microphthalmos (HP:0007633)	1.98055502
51	Congenital primary aphakia (HP:0007707)	1.97002109
52	Disproportionate short-trunk short stature (HP:0003521)	1.96851126
53	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.95811878
54	Progressive cerebellar ataxia (HP:0002073)	1.94449172
55	Genital tract atresia (HP:0001827)	1.94327689
56	Postaxial foot polydactyly (HP:0001830)	1.94172484
57	Gait imbalance (HP:0002141)	1.93701646
58	Optic nerve hypoplasia (HP:0000609)	1.93591962
59	Lissencephaly (HP:0001339)	1.92388431
60	Polydipsia (HP:0001959)	1.92138869
61	Abnormal drinking behavior (HP:0030082)	1.92138869
62	Pendular nystagmus (HP:0012043)	1.91846703
63	Genetic anticipation (HP:0003743)	1.91553330
64	Increased CSF lactate (HP:0002490)	1.90062783
65	Febrile seizures (HP:0002373)	1.88097635
66	Severe visual impairment (HP:0001141)	1.87938818
67	Small hand (HP:0200055)	1.86987199
68	Bony spicule pigmentary retinopathy (HP:0007737)	1.86839813
69	Abnormality of the ileum (HP:0001549)	1.86245030
70	Abnormality of glycine metabolism (HP:0010895)	1.84811378
71	Abnormality of serine family amino acid metabolism (HP:0010894)	1.84811378
72	Abnormality of DNA repair (HP:0003254)	1.84078223
73	Acanthocytosis (HP:0001927)	1.83727004
74	Abnormality of the parathyroid morphology (HP:0011766)	1.83653540
75	Acute encephalopathy (HP:0006846)	1.83209032
76	Vaginal atresia (HP:0000148)	1.82030495
77	Tubulointerstitial nephritis (HP:0001970)	1.81021873
78	Anencephaly (HP:0002323)	1.80869411
79	Scotoma (HP:0000575)	1.79606405
80	Oligodactyly (hands) (HP:0001180)	1.79315960
81	Amelogenesis imperfecta (HP:0000705)	1.78053900
82	Optic disc pallor (HP:0000543)	1.77127197
83	Tubular atrophy (HP:0000092)	1.76772290
84	Male pseudohermaphroditism (HP:0000037)	1.76297564
85	Meckel diverticulum (HP:0002245)	1.75951298
86	Congenital hepatic fibrosis (HP:0002612)	1.75547451
87	Acute necrotizing encephalopathy (HP:0006965)	1.75060348
88	Astigmatism (HP:0000483)	1.73020334
89	Increased density of long bones (HP:0006392)	1.72776049
90	Preaxial hand polydactyly (HP:0001177)	1.70780428
91	Bifid tongue (HP:0010297)	1.70758532
92	Abnormality of chromosome stability (HP:0003220)	1.70700705
93	Volvulus (HP:0002580)	1.70468064
94	Abnormal pancreas size (HP:0012094)	1.69741464
95	Focal motor seizures (HP:0011153)	1.68933983
96	Dyschromatopsia (HP:0007641)	1.66840195
97	Broad-based gait (HP:0002136)	1.66797496
98	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.66703637
99	Postaxial hand polydactyly (HP:0001162)	1.66628160
100	Retinitis pigmentosa (HP:0000510)	1.66569261

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.04856774
2	TRIM28	4.69976197
3	ACVR1B	3.52540126
4	MAP4K2	3.13650874
5	BMPR1B	2.82571831
6	PDK2	2.45637569
7	WNK3	2.41405779
8	ZAK	2.37422775
9	STK38L	2.04362566
10	NUAK1	2.02396540
11	BCKDK	2.00697152
12	SIK3	1.91445658
13	GRK1	1.85667612
14	PINK1	1.81716296
15	LATS1	1.72718631
16	MST4	1.61418260
17	PBK	1.59705998
18	ADRBK2	1.59083005
19	BCR	1.56749745
20	MAP3K4	1.46605648
21	TLK1	1.42661374
22	OXSR1	1.39630423
23	ERBB4	1.38904468
24	MKNK2	1.36492829
25	EIF2AK3	1.35613739
26	TNIK	1.32572134
27	PAK3	1.28988930
28	BRSK2	1.27352976
29	CASK	1.25363423
30	MAPK13	1.24109384
31	PRKD3	1.22938044
32	PIK3CG	1.21556387
33	ADRBK1	1.19054296
34	NLK	1.16392220
35	MAP3K12	1.16183329
36	INSRR	1.15572714
37	STK3	1.06770239
38	MUSK	1.01311339
39	BMPR2	0.92614430
40	MAP2K7	0.92549522
41	PLK2	0.91582091
42	EIF2AK1	0.90959314
43	FER	0.86089528
44	WNK4	0.82647459
45	PTK2B	0.79434843
46	PRKCE	0.79177338
47	DAPK2	0.77054343
48	STK39	0.73014329
49	PRKCG	0.68553251
50	PLK4	0.67984111
51	TAOK3	0.67845140
52	NTRK3	0.67456741
53	CDK19	0.67290907
54	ERBB3	0.65234113
55	PRKAA2	0.64887119
56	STK16	0.64104050
57	TNK2	0.63746054
58	TEC	0.62715286
59	CSNK1G1	0.62588775
60	TGFBR1	0.59326735
61	FLT3	0.58621073
62	MKNK1	0.58219885
63	GRK5	0.55804765
64	CSNK1A1L	0.55277498
65	CSNK1G2	0.54283508
66	DYRK2	0.53665176
67	MATK	0.50485440
68	PLK3	0.49658612
69	OBSCN	0.49614597
70	GRK7	0.49165688
71	WEE1	0.48234155
72	MELK	0.46934376
73	AKT3	0.45072534
74	VRK1	0.44986755
75	STK38	0.44532381
76	ATR	0.44000305
77	ERBB2	0.43066852
78	MYLK	0.42905895
79	CSNK1G3	0.42736201
80	CAMK2A	0.42677575
81	STK11	0.41972869
82	PRKCQ	0.40783512
83	EPHA4	0.39557568
84	TXK	0.38976455
85	MARK3	0.37875366
86	PLK1	0.36967872
87	MAPKAPK3	0.36114217
88	MAP2K2	0.35722831
89	CAMKK2	0.35685947
90	PRKCI	0.34812980
91	CSNK1A1	0.34501408
92	MINK1	0.33015251
93	MAP3K5	0.32519445
94	CAMK1	0.31981044
95	IKBKB	0.30616340
96	IRAK1	0.30291568
97	KSR1	0.30274420
98	NEK9	0.30066519
99	PRKACA	0.28941629
100	DAPK1	0.28526770

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.67078277
2	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.00312397
3	Nitrogen metabolism_Homo sapiens_hsa00910	2.72739857
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.68726595
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.58861758
6	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.31684013
7	Butanoate metabolism_Homo sapiens_hsa00650	2.31396703
8	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.28422831
9	Propanoate metabolism_Homo sapiens_hsa00640	2.08645323
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.07362509
11	Fanconi anemia pathway_Homo sapiens_hsa03460	2.05726473
12	Homologous recombination_Homo sapiens_hsa03440	2.03504788
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.92976447
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.88256163
15	Olfactory transduction_Homo sapiens_hsa04740	1.87410230
16	Basal transcription factors_Homo sapiens_hsa03022	1.78462703
17	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.77237642
18	Linoleic acid metabolism_Homo sapiens_hsa00591	1.71076405
19	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.70275129
20	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.62297781
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.58815910
22	Fatty acid elongation_Homo sapiens_hsa00062	1.55386680
23	Peroxisome_Homo sapiens_hsa04146	1.54311635
24	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.51924083
25	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.43837994
26	Caffeine metabolism_Homo sapiens_hsa00232	1.42735703
27	ABC transporters_Homo sapiens_hsa02010	1.42138650
28	Non-homologous end-joining_Homo sapiens_hsa03450	1.41763954
29	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.41162280
30	Regulation of autophagy_Homo sapiens_hsa04140	1.37456158
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.36936013
32	Taste transduction_Homo sapiens_hsa04742	1.35203521
33	Nicotine addiction_Homo sapiens_hsa05033	1.31718743
34	Protein export_Homo sapiens_hsa03060	1.28675603
35	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.28277584
36	One carbon pool by folate_Homo sapiens_hsa00670	1.24568314
37	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.20767670
38	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.20465398
39	Fat digestion and absorption_Homo sapiens_hsa04975	1.19125757
40	beta-Alanine metabolism_Homo sapiens_hsa00410	1.18026257
41	RNA polymerase_Homo sapiens_hsa03020	1.09303323
42	Ether lipid metabolism_Homo sapiens_hsa00565	1.08580426
43	Circadian rhythm_Homo sapiens_hsa04710	1.05467399
44	Sphingolipid metabolism_Homo sapiens_hsa00600	1.05177488
45	Chemical carcinogenesis_Homo sapiens_hsa05204	1.05030239
46	Collecting duct acid secretion_Homo sapiens_hsa04966	1.04778653
47	Selenocompound metabolism_Homo sapiens_hsa00450	1.04156456
48	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.03203479
49	Oxidative phosphorylation_Homo sapiens_hsa00190	1.02540829
50	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.00710888
51	Mismatch repair_Homo sapiens_hsa03430	0.97935010
52	Morphine addiction_Homo sapiens_hsa05032	0.97658084
53	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.95294515
54	Calcium signaling pathway_Homo sapiens_hsa04020	0.93493363
55	RNA degradation_Homo sapiens_hsa03018	0.91844243
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.91116980
57	Glutathione metabolism_Homo sapiens_hsa00480	0.90884399
58	Purine metabolism_Homo sapiens_hsa00230	0.89742709
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.87019721
60	Retinol metabolism_Homo sapiens_hsa00830	0.84817758
61	Serotonergic synapse_Homo sapiens_hsa04726	0.84400178
62	Proteasome_Homo sapiens_hsa03050	0.82620602
63	GABAergic synapse_Homo sapiens_hsa04727	0.82336636
64	Parkinsons disease_Homo sapiens_hsa05012	0.81056432
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.79382964
66	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.77685159
67	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.73090188
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.72448137
69	Metabolic pathways_Homo sapiens_hsa01100	0.70759536
70	Fatty acid degradation_Homo sapiens_hsa00071	0.70237968
71	Arginine and proline metabolism_Homo sapiens_hsa00330	0.69157320
72	Circadian entrainment_Homo sapiens_hsa04713	0.69141003
73	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.66760898
74	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.65611564
75	Fatty acid metabolism_Homo sapiens_hsa01212	0.63692122
76	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.63526954
77	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.60211701
78	Pyrimidine metabolism_Homo sapiens_hsa00240	0.59818488
79	Steroid biosynthesis_Homo sapiens_hsa00100	0.59519121
80	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.58601940
81	Huntingtons disease_Homo sapiens_hsa05016	0.54225251
82	Nucleotide excision repair_Homo sapiens_hsa03420	0.50092589
83	Salivary secretion_Homo sapiens_hsa04970	0.48255846
84	Mineral absorption_Homo sapiens_hsa04978	0.46323219
85	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.45548446
86	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.45483676
87	Sulfur metabolism_Homo sapiens_hsa00920	0.41625198
88	Pyruvate metabolism_Homo sapiens_hsa00620	0.41484824
89	Glutamatergic synapse_Homo sapiens_hsa04724	0.40829127
90	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.40239350
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.36465769
92	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.32191003
93	Histidine metabolism_Homo sapiens_hsa00340	0.29411366
94	PPAR signaling pathway_Homo sapiens_hsa03320	0.28527445
95	Phenylalanine metabolism_Homo sapiens_hsa00360	0.28443992
96	Tyrosine metabolism_Homo sapiens_hsa00350	0.28299407
97	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.27669844
98	Insulin secretion_Homo sapiens_hsa04911	0.27618461
99	Lysine degradation_Homo sapiens_hsa00310	0.27083707
100	Alzheimers disease_Homo sapiens_hsa05010	0.26097093

ENPP7P8

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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