ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.18951838
2	fucose catabolic process (GO:0019317)	4.33455976
3	L-fucose metabolic process (GO:0042354)	4.33455976
4	L-fucose catabolic process (GO:0042355)	4.33455976
5	platelet dense granule organization (GO:0060155)	4.24075157
6	response to pheromone (GO:0019236)	3.86133252
7	DNA deamination (GO:0045006)	3.85265033
8	indolalkylamine metabolic process (GO:0006586)	3.79550575
9	cellular ketone body metabolic process (GO:0046950)	3.67484470
10	kynurenine metabolic process (GO:0070189)	3.64908994
11	indole-containing compound catabolic process (GO:0042436)	3.62614871
12	indolalkylamine catabolic process (GO:0046218)	3.62614871
13	tryptophan catabolic process (GO:0006569)	3.62614871
14	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.62374254
15	negative regulation of telomere maintenance (GO:0032205)	3.58172184
16	regulation of cilium movement (GO:0003352)	3.49973466
17	mannosylation (GO:0097502)	3.48073833
18	piRNA metabolic process (GO:0034587)	3.41811387
19	protein polyglutamylation (GO:0018095)	3.37851534
20	preassembly of GPI anchor in ER membrane (GO:0016254)	3.37374874
21	tryptophan metabolic process (GO:0006568)	3.36618824
22	ketone body metabolic process (GO:1902224)	3.36074746
23	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.26708241
24	regulation of hexokinase activity (GO:1903299)	3.25422333
25	regulation of glucokinase activity (GO:0033131)	3.25422333
26	water-soluble vitamin biosynthetic process (GO:0042364)	3.23354983
27	axoneme assembly (GO:0035082)	3.22634315
28	detection of light stimulus involved in sensory perception (GO:0050962)	3.21376212
29	detection of light stimulus involved in visual perception (GO:0050908)	3.21376212
30	behavioral response to ethanol (GO:0048149)	3.14546854
31	respiratory chain complex IV assembly (GO:0008535)	3.06463614
32	ubiquinone biosynthetic process (GO:0006744)	3.05516209
33	nonmotile primary cilium assembly (GO:0035058)	3.04102598
34	epithelial cilium movement (GO:0003351)	3.03998814
35	protein complex biogenesis (GO:0070271)	2.96608051
36	retinal cone cell development (GO:0046549)	2.95977400
37	ubiquinone metabolic process (GO:0006743)	2.95878025
38	protein-cofactor linkage (GO:0018065)	2.93723634
39	kidney morphogenesis (GO:0060993)	2.91706257
40	dopamine transport (GO:0015872)	2.91193492
41	DNA double-strand break processing (GO:0000729)	2.90693441
42	synaptic transmission, cholinergic (GO:0007271)	2.89446182
43	negative regulation of mast cell activation (GO:0033004)	2.89086515
44	indole-containing compound metabolic process (GO:0042430)	2.86905448
45	multicellular organism reproduction (GO:0032504)	2.86187413
46	protein localization to cilium (GO:0061512)	2.83196585
47	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.82544649
48	NADH dehydrogenase complex assembly (GO:0010257)	2.82544649
49	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.82544649
50	protein K6-linked ubiquitination (GO:0085020)	2.79371897
51	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.78625149
52	photoreceptor cell development (GO:0042461)	2.77964409
53	regulation of neurotransmitter uptake (GO:0051580)	2.77597159
54	DNA methylation involved in gamete generation (GO:0043046)	2.77159680
55	cellular biogenic amine catabolic process (GO:0042402)	2.75679484
56	amine catabolic process (GO:0009310)	2.75679484
57	pyrimidine nucleobase catabolic process (GO:0006208)	2.74398351
58	cytochrome complex assembly (GO:0017004)	2.73749186
59	mitochondrial respiratory chain complex assembly (GO:0033108)	2.73559104
60	protein K11-linked deubiquitination (GO:0035871)	2.72306882
61	regulation of action potential (GO:0098900)	2.71230224
62	cilium morphogenesis (GO:0060271)	2.71074298
63	regulation of microtubule-based movement (GO:0060632)	2.70673081
64	neural tube formation (GO:0001841)	2.66922036
65	sperm motility (GO:0030317)	2.63428049
66	neuronal action potential (GO:0019228)	2.62890460
67	regulation of mitotic spindle checkpoint (GO:1903504)	2.62056564
68	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.62056564
69	neuronal action potential propagation (GO:0019227)	2.61665728
70	cilium organization (GO:0044782)	2.59528745
71	photoreceptor cell maintenance (GO:0045494)	2.58468256
72	male meiosis I (GO:0007141)	2.57732136
73	GPI anchor metabolic process (GO:0006505)	2.57462013
74	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.57030284
75	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.57030284
76	amino acid salvage (GO:0043102)	2.56836340
77	L-methionine salvage (GO:0071267)	2.56836340
78	L-methionine biosynthetic process (GO:0071265)	2.56836340
79	nucleobase catabolic process (GO:0046113)	2.56367477
80	cornea development in camera-type eye (GO:0061303)	2.55404759
81	rhodopsin mediated signaling pathway (GO:0016056)	2.54885012
82	cilium movement (GO:0003341)	2.54855940
83	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.54839218
84	cAMP catabolic process (GO:0006198)	2.54788809
85	benzene-containing compound metabolic process (GO:0042537)	2.54632190
86	anterograde synaptic vesicle transport (GO:0048490)	2.52322885
87	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.50994611
88	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.49589867
89	primary amino compound metabolic process (GO:1901160)	2.49152746
90	cilium assembly (GO:0042384)	2.49074614
91	C-terminal protein lipidation (GO:0006501)	2.48719322
92	eye photoreceptor cell development (GO:0042462)	2.48358705
93	gamma-aminobutyric acid transport (GO:0015812)	2.47087623
94	S-adenosylmethionine metabolic process (GO:0046500)	2.47033185
95	organic cation transport (GO:0015695)	2.44860828
96	nephron tubule morphogenesis (GO:0072078)	2.43610640
97	nephron epithelium morphogenesis (GO:0072088)	2.43610640
98	C-terminal protein amino acid modification (GO:0018410)	2.42579618
99	somite development (GO:0061053)	2.42226320
100	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.42085621

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.18798799
2	VDR_22108803_ChIP-Seq_LS180_Human	3.22679976
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.17117208
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.71869329
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.57462554
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.54142816
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.50394090
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49363546
9	FUS_26573619_Chip-Seq_HEK293_Human	2.24661968
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.23000234
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.12341325
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.10249698
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.05954151
14	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.04528789
15	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.99951286
16	P300_19829295_ChIP-Seq_ESCs_Human	1.97991434
17	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.97628214
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.93520195
19	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.91187224
20	EWS_26573619_Chip-Seq_HEK293_Human	1.90249447
21	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.88266523
22	EZH2_22144423_ChIP-Seq_EOC_Human	1.79444643
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.78897464
24	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.76526811
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.75807792
26	IRF1_19129219_ChIP-ChIP_H3396_Human	1.67225383
27	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.64104942
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.62202940
29	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.59084541
30	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.57849930
31	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.57462728
32	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.54131578
33	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.53864213
34	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.53473611
35	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.52910076
36	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.51770570
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.51770570
38	BCAT_22108803_ChIP-Seq_LS180_Human	1.51540505
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50533138
40	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.48674770
41	SMAD4_21799915_ChIP-Seq_A2780_Human	1.47353126
42	STAT3_23295773_ChIP-Seq_U87_Human	1.44654378
43	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.42441481
44	NANOG_19829295_ChIP-Seq_ESCs_Human	1.40886518
45	SOX2_19829295_ChIP-Seq_ESCs_Human	1.40886518
46	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.40791105
47	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.40431204
48	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.40384472
49	AR_25329375_ChIP-Seq_VCAP_Human	1.40127564
50	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.37886271
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.36329322
52	ELK1_19687146_ChIP-ChIP_HELA_Human	1.35742406
53	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.35733224
54	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.34959491
55	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.34959491
56	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.33543614
57	TCF4_23295773_ChIP-Seq_U87_Human	1.32821558
58	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.32599312
59	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.32063440
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.30868965
61	AR_20517297_ChIP-Seq_VCAP_Human	1.30544097
62	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.29716795
63	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.28778223
64	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.27642161
65	NCOR_22424771_ChIP-Seq_293T_Human	1.26448499
66	REST_21632747_ChIP-Seq_MESCs_Mouse	1.25653839
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.25529204
68	VDR_23849224_ChIP-Seq_CD4+_Human	1.25484805
69	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.23446003
70	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.23446003
71	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.22508392
72	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.22410687
73	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.21981505
74	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.20568650
75	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19375016
76	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.18734502
77	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17983469
78	HOXB7_26014856_ChIP-Seq_BT474_Human	1.16905894
79	P53_22387025_ChIP-Seq_ESCs_Mouse	1.14664883
80	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.13512989
81	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.12867136
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.12800067
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.11700949
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.11299169
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.10109736
86	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.09584237
87	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.08988659
88	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.07251206
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.07050657
90	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05807748
91	CDX2_22108803_ChIP-Seq_LS180_Human	1.05631787
92	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.05623198
93	RNF2_27304074_Chip-Seq_NSC_Mouse	1.05552709
94	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.04511842
95	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.03455770
96	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.99808284
97	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.99684444
98	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.99228666
99	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.98922436
100	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.97466942

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.39314076
2	MP0003195_calcinosis	2.97687010
3	MP0002102_abnormal_ear_morphology	2.87766791
4	MP0002638_abnormal_pupillary_reflex	2.75599040
5	MP0000569_abnormal_digit_pigmentation	2.68687530
6	MP0005551_abnormal_eye_electrophysiolog	2.44308088
7	MP0000372_irregular_coat_pigmentation	2.26936738
8	MP0001968_abnormal_touch/_nociception	2.24273203
9	MP0003646_muscle_fatigue	2.21051483
10	MP0002876_abnormal_thyroid_physiology	2.03332297
11	MP0003787_abnormal_imprinting	1.98663369
12	MP0009046_muscle_twitch	1.96321576
13	MP0005253_abnormal_eye_physiology	1.94575140
14	MP0001986_abnormal_taste_sensitivity	1.93447842
15	MP0008872_abnormal_physiological_respon	1.92995340
16	MP0008875_abnormal_xenobiotic_pharmacok	1.89042635
17	MP0002837_dystrophic_cardiac_calcinosis	1.87352194
18	MP0002736_abnormal_nociception_after	1.87200803
19	MP0004043_abnormal_pH_regulation	1.86011063
20	MP0006292_abnormal_olfactory_placode	1.84131924
21	MP0009745_abnormal_behavioral_response	1.81738236
22	MP0006072_abnormal_retinal_apoptosis	1.78598420
23	MP0005646_abnormal_pituitary_gland	1.77775999
24	MP0001984_abnormal_olfaction	1.75619283
25	MP0003136_yellow_coat_color	1.74531381
26	MP0004133_heterotaxia	1.73670346
27	MP0006276_abnormal_autonomic_nervous	1.70014586
28	MP0005645_abnormal_hypothalamus_physiol	1.68627190
29	MP0002653_abnormal_ependyma_morphology	1.65180137
30	MP0004142_abnormal_muscle_tone	1.64840124
31	MP0000427_abnormal_hair_cycle	1.62516151
32	MP0001501_abnormal_sleep_pattern	1.58894933
33	MP0002272_abnormal_nervous_system	1.58323737
34	MP0003880_abnormal_central_pattern	1.56816497
35	MP0002163_abnormal_gland_morphology	1.54010765
36	MP0001486_abnormal_startle_reflex	1.47652954
37	MP0005174_abnormal_tail_pigmentation	1.46194223
38	MP0002938_white_spotting	1.45972170
39	MP0005075_abnormal_melanosome_morpholog	1.44103302
40	MP0008789_abnormal_olfactory_epithelium	1.43587190
41	MP0010386_abnormal_urinary_bladder	1.42659818
42	MP0003011_delayed_dark_adaptation	1.38070617
43	MP0005379_endocrine/exocrine_gland_phen	1.34591286
44	MP0001905_abnormal_dopamine_level	1.34590158
45	MP0004147_increased_porphyrin_level	1.29803581
46	MP0004885_abnormal_endolymph	1.29535923
47	MP0002928_abnormal_bile_duct	1.27083588
48	MP0001485_abnormal_pinna_reflex	1.26853072
49	MP0002095_abnormal_skin_pigmentation	1.26113186
50	MP0002160_abnormal_reproductive_system	1.25753342
51	MP0002572_abnormal_emotion/affect_behav	1.25164909
52	MP0001764_abnormal_homeostasis	1.24363021
53	MP0005167_abnormal_blood-brain_barrier	1.24197359
54	MP0000631_abnormal_neuroendocrine_gland	1.23162576
55	MP0002557_abnormal_social/conspecific_i	1.21428322
56	MP0003122_maternal_imprinting	1.20114656
57	MP0005389_reproductive_system_phenotype	1.17828757
58	MP0000015_abnormal_ear_pigmentation	1.14760467
59	MP0002735_abnormal_chemical_nociception	1.13725796
60	MP0000383_abnormal_hair_follicle	1.11991044
61	MP0005499_abnormal_olfactory_system	1.11621081
62	MP0005394_taste/olfaction_phenotype	1.11621081
63	MP0001970_abnormal_pain_threshold	1.09851040
64	MP0005410_abnormal_fertilization	1.06819096
65	MP0002733_abnormal_thermal_nociception	1.06615763
66	MP0005084_abnormal_gallbladder_morpholo	1.06541456
67	MP0004215_abnormal_myocardial_fiber	1.05349489
68	MP0000647_abnormal_sebaceous_gland	1.04132743
69	MP0002064_seizures	1.03503102
70	MP0003121_genomic_imprinting	1.03298090
71	MP0001529_abnormal_vocalization	1.03104045
72	MP0002234_abnormal_pharynx_morphology	1.01520421
73	MP0001502_abnormal_circadian_rhythm	1.01407258
74	MP0005195_abnormal_posterior_eye	1.01391214
75	MP0001919_abnormal_reproductive_system	0.99408045
76	MP0004145_abnormal_muscle_electrophysio	0.98771200
77	MP0004742_abnormal_vestibular_system	0.97626656
78	MP0000230_abnormal_systemic_arterial	0.97076319
79	MP0004924_abnormal_behavior	0.94588132
80	MP0005386_behavior/neurological_phenoty	0.94588132
81	MP0002693_abnormal_pancreas_physiology	0.93074865
82	MP0008995_early_reproductive_senescence	0.92099260
83	MP0002067_abnormal_sensory_capabilities	0.91214657
84	MP0002063_abnormal_learning/memory/cond	0.89452352
85	MP0003635_abnormal_synaptic_transmissio	0.87756125
86	MP0002254_reproductive_system_inflammat	0.86723801
87	MP0002229_neurodegeneration	0.86378113
88	MP0004019_abnormal_vitamin_homeostasis	0.82681439
89	MP0002752_abnormal_somatic_nervous	0.82600687
90	MP0008058_abnormal_DNA_repair	0.82069395
91	MP0003718_maternal_effect	0.82067463
92	MP0003698_abnormal_male_reproductive	0.81218226
93	MP0002277_abnormal_respiratory_mucosa	0.80056348
94	MP0008775_abnormal_heart_ventricle	0.79930566
95	MP0001324_abnormal_eye_pigmentation	0.78954649
96	MP0001756_abnormal_urination	0.78251240
97	MP0001929_abnormal_gametogenesis	0.78180335
98	MP0002184_abnormal_innervation	0.77655390
99	MP0002138_abnormal_hepatobiliary_system	0.73274016
100	MP0010329_abnormal_lipoprotein_level	0.72431601

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.20408628
2	Pancreatic fibrosis (HP:0100732)	3.98205624
3	Congenital stationary night blindness (HP:0007642)	3.90423117
4	Type II lissencephaly (HP:0007260)	3.73945150
5	Molar tooth sign on MRI (HP:0002419)	3.71584513
6	Abnormality of midbrain morphology (HP:0002418)	3.71584513
7	True hermaphroditism (HP:0010459)	3.54138207
8	Medial flaring of the eyebrow (HP:0010747)	3.44820971
9	Abnormality of the renal cortex (HP:0011035)	3.21370294
10	Nephronophthisis (HP:0000090)	3.14733867
11	Abolished electroretinogram (ERG) (HP:0000550)	3.01993257
12	Cerebellar dysplasia (HP:0007033)	2.99454404
13	Attenuation of retinal blood vessels (HP:0007843)	2.97980478
14	Abnormality of the renal medulla (HP:0100957)	2.90444667
15	Abnormal drinking behavior (HP:0030082)	2.85766630
16	Polydipsia (HP:0001959)	2.85766630
17	Gait imbalance (HP:0002141)	2.81183691
18	Congenital primary aphakia (HP:0007707)	2.74379714
19	Nephrogenic diabetes insipidus (HP:0009806)	2.70585906
20	Renal cortical cysts (HP:0000803)	2.69222531
21	Pendular nystagmus (HP:0012043)	2.62469709
22	Lissencephaly (HP:0001339)	2.62223281
23	Abnormal rod and cone electroretinograms (HP:0008323)	2.61832630
24	Hyperventilation (HP:0002883)	2.54081189
25	Tubular atrophy (HP:0000092)	2.53434516
26	Cystic liver disease (HP:0006706)	2.53192028
27	Abnormal biliary tract physiology (HP:0012439)	2.44850503
28	Bile duct proliferation (HP:0001408)	2.44850503
29	Acute necrotizing encephalopathy (HP:0006965)	2.42365384
30	Chronic hepatic failure (HP:0100626)	2.42316490
31	Sclerocornea (HP:0000647)	2.39624099
32	Decreased circulating renin level (HP:0003351)	2.38897703
33	Polyuria (HP:0000103)	2.31570561
34	Methylmalonic acidemia (HP:0002912)	2.31187378
35	Progressive macrocephaly (HP:0004481)	2.28850590
36	Abnormality of alanine metabolism (HP:0010916)	2.26129391
37	Hyperalaninemia (HP:0003348)	2.26129391
38	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.26129391
39	Hypothermia (HP:0002045)	2.25535011
40	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.22993399
41	Hypoplasia of the fovea (HP:0007750)	2.22993399
42	Increased CSF lactate (HP:0002490)	2.22360990
43	Mitochondrial inheritance (HP:0001427)	2.21578107
44	Inability to walk (HP:0002540)	2.20568950
45	Febrile seizures (HP:0002373)	2.20042628
46	Acute encephalopathy (HP:0006846)	2.19503772
47	Hypomagnesemia (HP:0002917)	2.17062613
48	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.16706935
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.15030899
50	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.14658262
51	Genital tract atresia (HP:0001827)	2.13919797
52	Large for gestational age (HP:0001520)	2.11243498
53	Progressive inability to walk (HP:0002505)	2.08534632
54	Broad-based gait (HP:0002136)	2.07025094
55	Congenital hepatic fibrosis (HP:0002612)	2.06890829
56	Methylmalonic aciduria (HP:0012120)	2.06840619
57	Gaze-evoked nystagmus (HP:0000640)	2.06532774
58	3-Methylglutaconic aciduria (HP:0003535)	2.06037964
59	Vaginal atresia (HP:0000148)	2.05961272
60	Lipid accumulation in hepatocytes (HP:0006561)	2.05584760
61	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.04201163
62	Severe muscular hypotonia (HP:0006829)	2.03896553
63	Abnormal mitochondria in muscle tissue (HP:0008316)	2.02189960
64	Decreased central vision (HP:0007663)	2.00504339
65	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.00011616
66	Ketoacidosis (HP:0001993)	1.99309042
67	Pachygyria (HP:0001302)	1.98698866
68	Increased corneal curvature (HP:0100692)	1.98649681
69	Keratoconus (HP:0000563)	1.98649681
70	Asplenia (HP:0001746)	1.97714082
71	Optic disc pallor (HP:0000543)	1.97080126
72	Intestinal atresia (HP:0011100)	1.95300579
73	Agitation (HP:0000713)	1.93084557
74	Hyperglycinuria (HP:0003108)	1.92768143
75	Stomach cancer (HP:0012126)	1.92749147
76	Ketosis (HP:0001946)	1.92494889
77	Absent speech (HP:0001344)	1.92066569
78	Optic nerve hypoplasia (HP:0000609)	1.90409736
79	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.89442968
80	Abnormal urine output (HP:0012590)	1.89249088
81	Hemiparesis (HP:0001269)	1.88283142
82	Postaxial foot polydactyly (HP:0001830)	1.88159958
83	Anencephaly (HP:0002323)	1.86849908
84	Male pseudohermaphroditism (HP:0000037)	1.85372511
85	Abnormality of macular pigmentation (HP:0008002)	1.83945933
86	Furrowed tongue (HP:0000221)	1.82709454
87	Abnormality of the fovea (HP:0000493)	1.80296516
88	Hyperglycinemia (HP:0002154)	1.79995066
89	Constricted visual fields (HP:0001133)	1.79803000
90	Poor coordination (HP:0002370)	1.77752501
91	Hepatic necrosis (HP:0002605)	1.76255094
92	Postaxial hand polydactyly (HP:0001162)	1.76202225
93	Abnormal respiratory motile cilium morphology (HP:0005938)	1.75163613
94	Abnormal respiratory epithelium morphology (HP:0012253)	1.75163613
95	Colon cancer (HP:0003003)	1.74237424
96	Occipital encephalocele (HP:0002085)	1.74081816
97	Increased hepatocellular lipid droplets (HP:0006565)	1.73766283
98	Limb dystonia (HP:0002451)	1.73286390
99	Chorioretinal atrophy (HP:0000533)	1.73173861
100	Retinal dysplasia (HP:0007973)	1.71904000

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.20285902
2	ADRBK2	3.19463423
3	PINK1	2.91543433
4	WNK3	2.81618341
5	WNK4	2.75160779
6	MAP4K2	2.65330049
7	GRK1	2.59724493
8	BMPR1B	2.38257905
9	ZAK	2.35498475
10	MAP3K4	2.25423379
11	NUAK1	2.14771938
12	INSRR	2.03082533
13	MAPK13	1.87285869
14	OXSR1	1.70558691
15	STK39	1.67793774
16	CASK	1.67726181
17	DAPK2	1.64597469
18	ACVR1B	1.64570879
19	TLK1	1.62743810
20	TXK	1.61498964
21	TAOK3	1.52307009
22	PAK3	1.46015568
23	PLK2	1.39408916
24	MUSK	1.35725936
25	MAP2K7	1.34561389
26	DYRK2	1.29210025
27	TRIM28	1.24215708
28	BRSK2	1.23539585
29	TIE1	1.20080501
30	MKNK2	1.19864582
31	BCR	1.16297290
32	ERBB3	1.11133205
33	PRKCG	1.10050661
34	PRKCE	1.07090821
35	TNIK	1.05633775
36	EPHA4	0.99834212
37	ADRBK1	0.98659104
38	PNCK	0.96742341
39	MAPKAPK5	0.93328406
40	STK16	0.92528921
41	CAMKK2	0.90232597
42	PHKG1	0.90127071
43	PHKG2	0.90127071
44	BCKDK	0.88793417
45	MAPKAPK3	0.88638389
46	MKNK1	0.88595511
47	WEE1	0.86621215
48	NME1	0.84649144
49	EIF2AK3	0.81137627
50	MAP2K6	0.77743681
51	MARK1	0.75736355
52	CSNK1G2	0.75380635
53	PRKCQ	0.74323916
54	IKBKB	0.69750921
55	CSNK1G1	0.68342850
56	ITK	0.66907842
57	STK38L	0.66312885
58	TGFBR1	0.65151847
59	TEC	0.64854877
60	RPS6KA5	0.64683967
61	PIK3CA	0.64622615
62	PRKCI	0.64306920
63	CSNK1G3	0.64203804
64	VRK1	0.64117918
65	PLK4	0.62685102
66	MST4	0.62651123
67	PLK3	0.62361074
68	GRK7	0.60922002
69	FGFR2	0.60028960
70	PTK2B	0.58717854
71	CDK19	0.56661480
72	CAMK2A	0.54751548
73	EPHA3	0.52692666
74	PRKACA	0.51445546
75	TNK2	0.49717227
76	CSNK1A1L	0.49343775
77	SRPK1	0.48783624
78	CAMK1	0.48681383
79	LIMK1	0.43750988
80	MAP2K4	0.42900958
81	PRKAA1	0.42379037
82	FER	0.42052623
83	PKN1	0.41830288
84	MAP3K12	0.41766985
85	FLT3	0.41440724
86	DYRK1A	0.39310005
87	STK11	0.38532680
88	PRKCA	0.37981836
89	PAK6	0.37195743
90	PASK	0.36674429
91	NTRK2	0.35975347
92	PRKAA2	0.35914539
93	CSNK1A1	0.35548766
94	CSNK1D	0.34012353
95	CHUK	0.31841929
96	KIT	0.30128409
97	MAP2K2	0.29371234
98	PRKCZ	0.28295459
99	GRK5	0.28276636
100	PLK1	0.28214582

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.86500269
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.80048981
3	Phototransduction_Homo sapiens_hsa04744	2.64197213
4	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.50097732
5	Protein export_Homo sapiens_hsa03060	2.47834927
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.44039178
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.39785240
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.38983639
9	Butanoate metabolism_Homo sapiens_hsa00650	2.36333655
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.35850924
11	Oxidative phosphorylation_Homo sapiens_hsa00190	2.34329534
12	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.29919854
13	Parkinsons disease_Homo sapiens_hsa05012	1.96610981
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.96096129
15	Tryptophan metabolism_Homo sapiens_hsa00380	1.85672886
16	Selenocompound metabolism_Homo sapiens_hsa00450	1.79520368
17	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.79319431
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.74648294
19	Ether lipid metabolism_Homo sapiens_hsa00565	1.70207285
20	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.66536076
21	Propanoate metabolism_Homo sapiens_hsa00640	1.64234690
22	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.57434204
23	Basal transcription factors_Homo sapiens_hsa03022	1.50080009
24	Nicotine addiction_Homo sapiens_hsa05033	1.49634333
25	Caffeine metabolism_Homo sapiens_hsa00232	1.45605662
26	Peroxisome_Homo sapiens_hsa04146	1.44059926
27	RNA polymerase_Homo sapiens_hsa03020	1.41909414
28	Homologous recombination_Homo sapiens_hsa03440	1.38669435
29	Regulation of autophagy_Homo sapiens_hsa04140	1.37491619
30	Olfactory transduction_Homo sapiens_hsa04740	1.36517576
31	Proteasome_Homo sapiens_hsa03050	1.29920585
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.27668839
33	Morphine addiction_Homo sapiens_hsa05032	1.20433694
34	Taste transduction_Homo sapiens_hsa04742	1.16433550
35	Huntingtons disease_Homo sapiens_hsa05016	1.14559571
36	RNA degradation_Homo sapiens_hsa03018	1.13953178
37	Alzheimers disease_Homo sapiens_hsa05010	1.13530500
38	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.11769687
39	Cardiac muscle contraction_Homo sapiens_hsa04260	1.10764898
40	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.09393917
41	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.08459414
42	Chemical carcinogenesis_Homo sapiens_hsa05204	1.02819409
43	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.01164047
44	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.00561285
45	Collecting duct acid secretion_Homo sapiens_hsa04966	0.99360306
46	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.98802303
47	GABAergic synapse_Homo sapiens_hsa04727	0.92902467
48	Asthma_Homo sapiens_hsa05310	0.92852025
49	Type I diabetes mellitus_Homo sapiens_hsa04940	0.92671383
50	Retinol metabolism_Homo sapiens_hsa00830	0.91952687
51	Serotonergic synapse_Homo sapiens_hsa04726	0.91716712
52	ABC transporters_Homo sapiens_hsa02010	0.91229434
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.90913549
54	Insulin secretion_Homo sapiens_hsa04911	0.90543893
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.90250178
56	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.88298403
57	Fatty acid elongation_Homo sapiens_hsa00062	0.85022309
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.84192253
59	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.83436087
60	Circadian entrainment_Homo sapiens_hsa04713	0.82720300
61	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80975966
62	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.80102348
63	One carbon pool by folate_Homo sapiens_hsa00670	0.75214275
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73869540
65	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.73248989
66	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.73214103
67	Glutamatergic synapse_Homo sapiens_hsa04724	0.72820183
68	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.71937555
69	Primary immunodeficiency_Homo sapiens_hsa05340	0.71609165
70	Fatty acid degradation_Homo sapiens_hsa00071	0.71169294
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.68661959
72	Metabolic pathways_Homo sapiens_hsa01100	0.67373505
73	Glycerolipid metabolism_Homo sapiens_hsa00561	0.65227251
74	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64865360
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62716646
76	Steroid biosynthesis_Homo sapiens_hsa00100	0.62492988
77	Salivary secretion_Homo sapiens_hsa04970	0.61645033
78	Mineral absorption_Homo sapiens_hsa04978	0.61521350
79	Purine metabolism_Homo sapiens_hsa00230	0.60312976
80	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.59614463
81	Allograft rejection_Homo sapiens_hsa05330	0.54483057
82	Graft-versus-host disease_Homo sapiens_hsa05332	0.51987155
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.51340996
84	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.50565313
85	Fatty acid metabolism_Homo sapiens_hsa01212	0.49803670
86	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.49494963
87	Circadian rhythm_Homo sapiens_hsa04710	0.47944808
88	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.46951847
89	Histidine metabolism_Homo sapiens_hsa00340	0.46265417
90	Sulfur metabolism_Homo sapiens_hsa00920	0.45688483
91	Non-homologous end-joining_Homo sapiens_hsa03450	0.45416204
92	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.45281978
93	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.44809732
94	Dopaminergic synapse_Homo sapiens_hsa04728	0.44000352
95	Rheumatoid arthritis_Homo sapiens_hsa05323	0.42569725
96	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.41313226
97	Calcium signaling pathway_Homo sapiens_hsa04020	0.40743510
98	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.33850349
99	Arginine and proline metabolism_Homo sapiens_hsa00330	0.32831106
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.30921881

DMBT1P1

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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