ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	aggressive behavior (GO:0002118)	8.39028811
2	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	7.43261581
3	microtubule severing (GO:0051013)	7.36634542
4	hyperosmotic salinity response (GO:0042538)	7.33813599
5	pyrimidine nucleotide catabolic process (GO:0006244)	6.41070598
6	alkaloid metabolic process (GO:0009820)	6.17598024
7	regulation of posttranscriptional gene silencing (GO:0060147)	6.17158442
8	regulation of gene silencing by miRNA (GO:0060964)	6.17158442
9	regulation of gene silencing by RNA (GO:0060966)	6.17158442
10	nucleotide salvage (GO:0043173)	5.89617979
11	negative regulation of defense response to virus (GO:0050687)	5.70095275
12	regulation of female receptivity (GO:0045924)	5.59611158
13	somite development (GO:0061053)	5.47002190
14	renal system development (GO:0072001)	5.34509596
15	regulation of transmission of nerve impulse (GO:0051969)	5.26836596
16	female mating behavior (GO:0060180)	4.89303642
17	histone arginine methylation (GO:0034969)	4.87881007
18	cell proliferation involved in metanephros development (GO:0072203)	4.81689653
19	positive regulation of amino acid transport (GO:0051957)	4.78091079
20	inositol metabolic process (GO:0006020)	4.73642742
21	grooming behavior (GO:0007625)	4.72366348
22	positive regulation of SMAD protein import into nucleus (GO:0060391)	4.70006386
23	DNA topological change (GO:0006265)	4.61669805
24	regulation of nuclear cell cycle DNA replication (GO:0033262)	4.53142835
25	embryonic camera-type eye development (GO:0031076)	4.51545574
26	regulation of histone H3-K9 methylation (GO:0051570)	4.46222431
27	regulation of mammary gland epithelial cell proliferation (GO:0033599)	4.43549374
28	cell proliferation involved in kidney development (GO:0072111)	4.39189183
29	protein kinase C signaling (GO:0070528)	4.36986108
30	maternal behavior (GO:0042711)	4.32920387
31	neuron remodeling (GO:0016322)	4.25937026
32	regulation of double-strand break repair via homologous recombination (GO:0010569)	4.17979020
33	phosphorylated carbohydrate dephosphorylation (GO:0046838)	4.14668483
34	inositol phosphate dephosphorylation (GO:0046855)	4.14668483
35	NAD biosynthetic process (GO:0009435)	4.14112322
36	embryonic heart tube development (GO:0035050)	4.07292378
37	telomere maintenance via telomerase (GO:0007004)	4.04692959
38	adenine nucleotide transport (GO:0051503)	3.94848062
39	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.89889598
40	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	3.88182829
41	thrombin receptor signaling pathway (GO:0070493)	3.84796320
42	parental behavior (GO:0060746)	3.83262600
43	determination of adult lifespan (GO:0008340)	3.82557440
44	regulation of mitochondrial translation (GO:0070129)	3.75953214
45	sterol catabolic process (GO:0016127)	3.74342681
46	cholesterol catabolic process (GO:0006707)	3.74342681
47	L-serine metabolic process (GO:0006563)	3.69769366
48	regulation of response to tumor cell (GO:0002834)	3.65725002
49	positive regulation of response to tumor cell (GO:0002836)	3.65725002
50	positive regulation of immune response to tumor cell (GO:0002839)	3.65725002
51	regulation of immune response to tumor cell (GO:0002837)	3.65725002
52	sulfation (GO:0051923)	3.65407604
53	positive regulation of cholesterol efflux (GO:0010875)	3.61266010
54	positive regulation of T cell cytokine production (GO:0002726)	3.61131950
55	single strand break repair (GO:0000012)	3.61088391
56	fusion of sperm to egg plasma membrane (GO:0007342)	3.57415486
57	nucleobase biosynthetic process (GO:0046112)	3.53023384
58	inositol phosphate catabolic process (GO:0071545)	3.51877512
59	membrane budding (GO:0006900)	3.51534169
60	negative regulation of response to biotic stimulus (GO:0002832)	3.49110575
61	regulation of glutamate secretion (GO:0014048)	3.49040320
62	DNA ligation (GO:0006266)	3.48170343
63	lung-associated mesenchyme development (GO:0060484)	3.44691009
64	negative regulation of smoothened signaling pathway (GO:0045879)	3.43429692
65	lipopolysaccharide biosynthetic process (GO:0009103)	3.42894554
66	post-anal tail morphogenesis (GO:0036342)	3.32684222
67	layer formation in cerebral cortex (GO:0021819)	3.32507697
68	peptidyl-arginine omega-N-methylation (GO:0035247)	3.31802108
69	positive regulation of fatty acid biosynthetic process (GO:0045723)	3.30404068
70	regulation of gene silencing (GO:0060968)	3.29838441
71	cellular response to cholesterol (GO:0071397)	3.29135570
72	deoxyribonucleotide catabolic process (GO:0009264)	3.27617428
73	sodium-independent organic anion transport (GO:0043252)	3.27140732
74	purine ribonucleotide transport (GO:0015868)	3.24713090
75	negative regulation of neurological system process (GO:0031645)	3.24051195
76	nuclear pore complex assembly (GO:0051292)	3.23034123
77	hemoglobin metabolic process (GO:0020027)	3.22662537
78	regulation of SMAD protein import into nucleus (GO:0060390)	3.19982877
79	negative regulation of telomere maintenance (GO:0032205)	3.18410265
80	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	3.14646352
81	mammary gland epithelial cell differentiation (GO:0060644)	3.13327157
82	regulation of RIG-I signaling pathway (GO:0039535)	3.12811171
83	regulation of cell fate specification (GO:0042659)	3.10630136
84	nicotinamide nucleotide biosynthetic process (GO:0019359)	3.10587334
85	pyridine nucleotide biosynthetic process (GO:0019363)	3.10587334
86	cellular response to interferon-beta (GO:0035458)	3.08313679
87	outer ear morphogenesis (GO:0042473)	3.07730114
88	RNA-dependent DNA replication (GO:0006278)	3.07519273
89	protein complex localization (GO:0031503)	3.05558249
90	deoxyribose phosphate catabolic process (GO:0046386)	3.04846891
91	positive regulation of systemic arterial blood pressure (GO:0003084)	3.02869983
92	purine nucleotide transport (GO:0015865)	3.02769202
93	paraxial mesoderm development (GO:0048339)	3.02568847
94	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)	2.96990221
95	regulation of branching involved in prostate gland morphogenesis (GO:0060687)	2.93355917
96	positive regulation of sterol transport (GO:0032373)	2.92932358
97	positive regulation of cholesterol transport (GO:0032376)	2.92932358
98	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	2.92661137
99	keratinocyte proliferation (GO:0043616)	2.88699389
100	morphogenesis of an endothelium (GO:0003159)	2.86852358

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.35298831
2	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	3.94594283
3	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	3.94594283
4	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	3.94594283
5	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.35616901
6	E2F7_22180533_ChIP-Seq_HELA_Human	2.51375051
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.36481227
8	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	2.30715422
9	TCF3_18692474_ChIP-Seq_MEFs_Mouse	2.28035351
10	GATA1_26923725_Chip-Seq_HPCs_Mouse	2.27273239
11	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.25867135
12	POU5F1_16153702_ChIP-ChIP_HESCs_Human	2.15868584
13	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.12695913
14	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.10349964
15	SOX2_18555785_ChIP-Seq_MESCs_Mouse	2.06704962
16	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	2.06299375
17	ESR1_15608294_ChIP-ChIP_MCF-7_Human	2.05938270
18	SMAD1_18555785_ChIP-Seq_MESCs_Mouse	2.03050756
19	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	12.9703536
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.99266113
21	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.94334773
22	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.93973959
23	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.93213225
24	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.90064399
25	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.87428054
26	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.84091040
27	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.83718828
28	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.76975793
29	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.71477868
30	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.69099610
31	XRN2_22483619_ChIP-Seq_HELA_Human	1.59037126
32	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.58981774
33	NACC1_18358816_ChIP-ChIP_MESCs_Mouse	1.50636816
34	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.49091496
35	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.48961334
36	TCF3_18692474_ChIP-Seq_MESCs_Mouse	1.46772603
37	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.44958848
38	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.44389756
39	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.40200466
40	POU5F1_16518401_ChIP-PET_MESCs_Mouse	1.36246261
41	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.32919971
42	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	1.28483545
43	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.26880362
44	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.24700173
45	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.21562499
46	KAP1_27257070_Chip-Seq_ESCs_Mouse	1.21229407
47	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.19816221
48	FOXP3_21729870_ChIP-Seq_TREG_Human	1.16854323
49	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	1.16338660
50	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.15653554
51	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.15038828
52	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.13720712
53	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.13265887
54	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.11918095
55	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.11542601
56	TP53_22127205_ChIP-Seq_IMR90_Human	1.08635838
57	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.08191252
58	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.06804984
59	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.05798197
60	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.05496647
61	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.04403066
62	OCT4_18692474_ChIP-Seq_MEFs_Mouse	1.02545573
63	P68_20966046_ChIP-Seq_HELA_Human	1.01467355
64	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.00472156
65	BCOR_27268052_Chip-Seq_Bcells_Human	1.00177011
66	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.98337359
67	BCL6_27268052_Chip-Seq_Bcells_Human	0.96582745
68	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	0.95924375
69	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.94239787
70	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.92745756
71	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	0.91968252
72	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.91840962
73	TTF2_22483619_ChIP-Seq_HELA_Human	0.91716599
74	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.90157293
75	CTCF_20526341_ChIP-Seq_ESCs_Human	0.87788664
76	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	0.86689319
77	NANOG_18347094_ChIP-ChIP_MESCs_Mouse	0.86314231
78	POU5F1_18692474_ChIP-Seq_MESCs_Mouse	0.85789096
79	MYC_22102868_ChIP-Seq_BL_Human	0.85602537
80	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.84371816
81	SOX2_18692474_ChIP-Seq_MEFs_Mouse	0.82899947
82	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.82869076
83	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.82272862
84	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.81852876
85	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.80725530
86	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	0.80347275
87	CTCF_21964334_Chip-Seq_Bcells_Human	0.80101849
88	SOX2_18692474_ChIP-Seq_MESCs_Mouse	0.79995810
89	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	0.79038399
90	NANOG_18692474_ChIP-Seq_MEFs_Mouse	0.78634929
91	KLF4_18555785_ChIP-Seq_MESCs_Mouse	0.77899443
92	CTCF_27219007_Chip-Seq_ERYTHROID_Human	0.77592099
93	KDM5A_27292631_Chip-Seq_BREAST_Human	0.76518645
94	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.76480252
95	TRIM28_19339689_ChIP-ChIP_MESCs_Mouse	0.76406583
96	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.75574802
97	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.74367305
98	MYCN_18555785_ChIP-Seq_MESCs_Mouse	0.73545345
99	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.72368994
100	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.72019614

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003693_abnormal_embryo_hatching	4.88703551
2	MP0000383_abnormal_hair_follicle	4.45432634
3	MP0002254_reproductive_system_inflammat	4.42344693
4	MP0005187_abnormal_penis_morphology	3.98481997
5	MP0005645_abnormal_hypothalamus_physiol	3.78989897
6	MP0001188_hyperpigmentation	3.76415031
7	MP0010307_abnormal_tumor_latency	3.22377249
8	MP0008058_abnormal_DNA_repair	3.08266745
9	MP0010678_abnormal_skin_adnexa	3.01815135
10	MP0003111_abnormal_nucleus_morphology	2.96820058
11	MP0009697_abnormal_copulation	2.76548721
12	MP0006292_abnormal_olfactory_placode	2.62767795
13	MP0005503_abnormal_tendon_morphology	2.44825098
14	MP0004957_abnormal_blastocyst_morpholog	2.42023733
15	MP0002938_white_spotting	2.16999110
16	MP0001299_abnormal_eye_distance/	2.16205739
17	MP0002822_catalepsy	2.14485305
18	MP0003718_maternal_effect	1.97103143
19	MP0008932_abnormal_embryonic_tissue	1.96741954
20	MP0008877_abnormal_DNA_methylation	1.96212265
21	MP0002089_abnormal_postnatal_growth/wei	1.93333126
22	MP0003878_abnormal_ear_physiology	1.87447126
23	MP0005377_hearing/vestibular/ear_phenot	1.87447126
24	MP0005257_abnormal_intraocular_pressure	1.85616291
25	MP0000647_abnormal_sebaceous_gland	1.74541176
26	MP0003806_abnormal_nucleotide_metabolis	1.66203420
27	MP0004233_abnormal_muscle_weight	1.66174070
28	MP0003890_abnormal_embryonic-extraembry	1.62607092
29	MP0004808_abnormal_hematopoietic_stem	1.53908859
30	MP0001730_embryonic_growth_arrest	1.53132935
31	MP0000537_abnormal_urethra_morphology	1.46786727
32	MP0009672_abnormal_birth_weight	1.46199460
33	MP0001293_anophthalmia	1.45292529
34	MP0003136_yellow_coat_color	1.41100259
35	MP0002932_abnormal_joint_morphology	1.40293538
36	MP0000566_synostosis	1.38673529
37	MP0003186_abnormal_redox_activity	1.33926445
38	MP0002085_abnormal_embryonic_tissue	1.31975972
39	MP0003941_abnormal_skin_development	1.30293571
40	MP0002111_abnormal_tail_morphology	1.29376983
41	MP0010030_abnormal_orbit_morphology	1.28690274
42	MP0001672_abnormal_embryogenesis/_devel	1.27411253
43	MP0005380_embryogenesis_phenotype	1.27411253
44	MP0000428_abnormal_craniofacial_morphol	1.26748435
45	MP0001697_abnormal_embryo_size	1.23263987
46	MP0002098_abnormal_vibrissa_morphology	1.21035873
47	MP0010094_abnormal_chromosome_stability	1.19512673
48	MP0003077_abnormal_cell_cycle	1.13774547
49	MP0003984_embryonic_growth_retardation	1.10290292
50	MP0006035_abnormal_mitochondrial_morpho	1.08059398
51	MP0000049_abnormal_middle_ear	1.06735120
52	MP0003119_abnormal_digestive_system	1.05866961
53	MP0002088_abnormal_embryonic_growth/wei	1.05701059
54	MP0003315_abnormal_perineum_morphology	1.04960920
55	MP0004133_heterotaxia	1.03008442
56	MP0009379_abnormal_foot_pigmentation	1.01014149
57	MP0002697_abnormal_eye_size	1.00057518
58	MP0005058_abnormal_lysosome_morphology	0.96615544
59	MP0003938_abnormal_ear_development	0.95286619
60	MP0005394_taste/olfaction_phenotype	0.94959269
61	MP0005499_abnormal_olfactory_system	0.94959269
62	MP0000003_abnormal_adipose_tissue	0.94609092
63	MP0000350_abnormal_cell_proliferation	0.92693890
64	MP0002092_abnormal_eye_morphology	0.92348049
65	MP0002108_abnormal_muscle_morphology	0.91357026
66	MP0002080_prenatal_lethality	0.89788972
67	MP0002084_abnormal_developmental_patter	0.87887855
68	MP0001905_abnormal_dopamine_level	0.85224014
69	MP0003937_abnormal_limbs/digits/tail_de	0.84992147
70	MP0004197_abnormal_fetal_growth/weight/	0.83776582
71	MP0001849_ear_inflammation	0.83410138
72	MP0000467_abnormal_esophagus_morphology	0.82603213
73	MP0001929_abnormal_gametogenesis	0.82176001
74	MP0004134_abnormal_chest_morphology	0.81084465
75	MP0005410_abnormal_fertilization	0.78228667
76	MP0003567_abnormal_fetal_cardiomyocyte	0.77173546
77	MP0001984_abnormal_olfaction	0.76440556
78	MP0002653_abnormal_ependyma_morphology	0.76225425
79	MP0002086_abnormal_extraembryonic_tissu	0.74896884
80	MP0003861_abnormal_nervous_system	0.73475483
81	MP0008789_abnormal_olfactory_epithelium	0.72818586
82	MP0001346_abnormal_lacrimal_gland	0.72685043
83	MP0002114_abnormal_axial_skeleton	0.72528192
84	MP0004858_abnormal_nervous_system	0.71853612
85	MP0003698_abnormal_male_reproductive	0.71732212
86	MP0006036_abnormal_mitochondrial_physio	0.70257876
87	MP0002233_abnormal_nose_morphology	0.69322464
88	MP0001485_abnormal_pinna_reflex	0.68701336
89	MP0000538_abnormal_urinary_bladder	0.68603155
90	MP0002019_abnormal_tumor_incidence	0.68541730
91	MP0000631_abnormal_neuroendocrine_gland	0.65827684
92	MP0000627_abnormal_mammary_gland	0.65128057
93	MP0000477_abnormal_intestine_morphology	0.64775329
94	MP0002396_abnormal_hematopoietic_system	0.64562791
95	MP0002161_abnormal_fertility/fecundity	0.64373305
96	MP0005670_abnormal_white_adipose	0.62859906
97	MP0002736_abnormal_nociception_after	0.60746387
98	MP0000432_abnormal_head_morphology	0.60306851
99	MP0008770_decreased_survivor_rate	0.60254286
100	MP0008004_abnormal_stomach_pH	0.59515289

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Bilateral microphthalmos (HP:0007633)	6.48400077
2	Split foot (HP:0001839)	5.64727549
3	Median cleft lip (HP:0000161)	5.28973661
4	Thrombocytosis (HP:0001894)	5.24098239
5	Abnormal number of incisors (HP:0011064)	5.15695077
6	Spontaneous abortion (HP:0005268)	5.03445108
7	Neoplasm of the heart (HP:0100544)	4.83738472
8	Supernumerary bones of the axial skeleton (HP:0009144)	4.73652888
9	Short 4th metacarpal (HP:0010044)	4.43286850
10	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	4.43286850
11	Depressed nasal tip (HP:0000437)	4.36814012
12	Abnormality of the parietal bone (HP:0002696)	4.16766662
13	Supernumerary ribs (HP:0005815)	4.11261361
14	Broad face (HP:0000283)	4.07337581
15	Short phalanx of the thumb (HP:0009660)	4.04654782
16	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	3.77341818
17	Septo-optic dysplasia (HP:0100842)	3.65629783
18	Large earlobe (HP:0009748)	3.63483086
19	Abnormality of the nasal septum (HP:0000419)	3.63167585
20	Medulloblastoma (HP:0002885)	3.32311045
21	Abnormality of the 4th metacarpal (HP:0010012)	3.24555529
22	Cleft eyelid (HP:0000625)	3.23789722
23	Dysphonia (HP:0001618)	3.22697490
24	Abnormality of the diencephalon (HP:0010662)	3.15051175
25	Nonimmune hydrops fetalis (HP:0001790)	3.10223481
26	Abnormality of the distal phalanx of the thumb (HP:0009617)	3.00626671
27	Poor eye contact (HP:0000817)	2.97088949
28	Trigonocephaly (HP:0000243)	2.94486433
29	Neoplasm of the oral cavity (HP:0100649)	2.94095921
30	Midline defect of the nose (HP:0004122)	2.88269114
31	Abnormal number of erythroid precursors (HP:0012131)	2.86825658
32	Optic nerve coloboma (HP:0000588)	2.82033868
33	Glioma (HP:0009733)	2.76964213
34	Abnormality of abdominal situs (HP:0011620)	2.70622082
35	Abdominal situs inversus (HP:0003363)	2.70622082
36	Deformed sella turcica (HP:0002681)	2.67663088
37	Non-midline cleft lip (HP:0100335)	2.67101332
38	Milia (HP:0001056)	2.66249974
39	Tinnitus (HP:0000360)	2.65930066
40	Short thumb (HP:0009778)	2.64420386
41	Abnormality of cells of the erythroid lineage (HP:0012130)	2.62962237
42	Down-sloping shoulders (HP:0200021)	2.62240211
43	Maternal diabetes (HP:0009800)	2.58294096
44	Progressive external ophthalmoplegia (HP:0000590)	2.54166228
45	Impaired social interactions (HP:0000735)	2.50347739
46	Abnormal social behavior (HP:0012433)	2.50347739
47	Amaurosis fugax (HP:0100576)	2.50185418
48	Hemivertebrae (HP:0002937)	2.48045307
49	Vertebral fusion (HP:0002948)	2.46869294
50	Basal cell carcinoma (HP:0002671)	2.45515212
51	Abnormality of the heme biosynthetic pathway (HP:0010472)	2.43329233
52	Choanal stenosis (HP:0000452)	2.39238777
53	Reticulocytopenia (HP:0001896)	2.38819408
54	Urethral obstruction (HP:0000796)	2.37251429
55	Short tibia (HP:0005736)	2.30282097
56	Wide nose (HP:0000445)	2.29948372
57	Pancytopenia (HP:0001876)	2.28607645
58	Chronic otitis media (HP:0000389)	2.26848941
59	Partial duplication of thumb phalanx (HP:0009944)	2.23748167
60	Type I transferrin isoform profile (HP:0003642)	2.22475622
61	Abnormality of the incisor (HP:0000676)	2.21940158
62	Triphalangeal thumb (HP:0001199)	2.19822315
63	Short hallux (HP:0010109)	2.17903955
64	Abnormality of the sella turcica (HP:0002679)	2.13338507
65	Neoplasm of striated muscle (HP:0009728)	2.13214465
66	Porencephaly (HP:0002132)	2.10108206
67	Fused cervical vertebrae (HP:0002949)	2.03078204
68	Aplasia/Hypoplasia of the hallux (HP:0008362)	2.01757313
69	Delayed CNS myelination (HP:0002188)	1.98838095
70	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.98615845
71	Cerebellar dysplasia (HP:0007033)	1.98528873
72	Absent septum pellucidum (HP:0001331)	1.94933852
73	Hypotelorism (HP:0000601)	1.90840765
74	Partial duplication of the phalanx of hand (HP:0009999)	1.88330326
75	Carpal bone hypoplasia (HP:0001498)	1.88112806
76	Selective tooth agenesis (HP:0001592)	1.87807539
77	Absent thumb (HP:0009777)	1.87061518
78	Rectovaginal fistula (HP:0000143)	1.85694164
79	Rectal fistula (HP:0100590)	1.85694164
80	Partial agenesis of the corpus callosum (HP:0001338)	1.85180615
81	Thrombophlebitis (HP:0004418)	1.85157830
82	Melanocytic nevus (HP:0000995)	1.84421306
83	Portal hypertension (HP:0001409)	1.84068544
84	Broad distal phalanx of finger (HP:0009836)	1.83574796
85	Hemangiomatosis (HP:0007461)	1.82446520
86	Abnormality of the middle phalanges of the toes (HP:0010183)	1.78642723
87	Multiple enchondromatosis (HP:0005701)	1.78163570
88	Hypoalbuminemia (HP:0003073)	1.77055859
89	Abnormal albumin level (HP:0012116)	1.77055859
90	Abnormality of the hepatic vasculature (HP:0006707)	1.76014840
91	Brittle hair (HP:0002299)	1.75519754
92	2-3 toe syndactyly (HP:0004691)	1.75054176
93	Prolonged neonatal jaundice (HP:0006579)	1.74328482
94	Hepatoblastoma (HP:0002884)	1.73441222
95	Capillary hemangiomas (HP:0005306)	1.71088945
96	Abnormality of the septum pellucidum (HP:0007375)	1.70705383
97	Absent radius (HP:0003974)	1.69878636
98	Vaginal fistula (HP:0004320)	1.68669298
99	Abnormal ossification of hand bones (HP:0005921)	1.67817981
100	Humeroradial synostosis (HP:0003041)	1.67785010

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	SCYL2	7.74607841
2	STK4	5.82576811
3	BCKDK	4.56580991
4	ZAK	4.08984857
5	KDR	3.66969259
6	MAP3K8	2.96878671
7	TLK1	2.60084529
8	MAP3K1	2.50869411
9	INSRR	2.30505588
10	NUAK1	2.12854836
11	TAOK3	1.96309043
12	CDC7	1.92807790
13	PASK	1.48063364
14	MAP3K10	1.46706655
15	BUB1	1.39713845
16	MST4	1.36879138
17	AURKB	1.36438461
18	RPS6KB2	1.30573319
19	TESK2	1.30160387
20	LMTK2	1.29660940
21	TTK	1.29173483
22	BMX	1.24667848
23	MAP2K3	1.24060285
24	EEF2K	1.19673132
25	TSSK6	1.16904764
26	MAP3K3	1.16616348
27	DYRK2	1.16588577
28	AURKA	1.09206720
29	PLK4	1.08972477
30	PBK	1.06380159
31	PRKAA1	1.06137544
32	FGFR4	1.04064923
33	ATR	1.00954310
34	FGFR2	0.99271785
35	MAP3K13	0.97426374
36	CDK19	0.96802486
37	SMG1	0.94197089
38	TBK1	0.88025971
39	CDC42BPA	0.78220614
40	RPS6KA5	0.76771099
41	PINK1	0.76360126
42	CDK2	0.75854870
43	CHEK2	0.74707910
44	PLK1	0.74674815
45	VRK1	0.73659577
46	DYRK3	0.68247277
47	PIM1	0.68184726
48	ATM	0.58431043
49	FGFR1	0.54510854
50	IKBKE	0.54494484
51	NEK2	0.53965961
52	MAPK3	0.53320213
53	CHEK1	0.51497421
54	CSF1R	0.49456030
55	MAPKAPK3	0.48643471
56	MAPK9	0.46914950
57	CDK4	0.46602330
58	MUSK	0.46596568
59	PAK1	0.46209164
60	MTOR	0.45908001
61	FGR	0.45815833
62	AKT2	0.45129087
63	MAPK14	0.44223911
64	GSK3B	0.43995371
65	PLK3	0.41881462
66	NLK	0.39528715
67	LATS2	0.37925759
68	MKNK1	0.37221322
69	AKT1	0.35220398
70	CDK7	0.34814375
71	FES	0.34622960
72	CSNK1E	0.33642583
73	EGFR	0.33611107
74	DYRK1A	0.33075558
75	MAP3K7	0.32345540
76	TEC	0.31411214
77	WNK3	0.31004951
78	CHUK	0.29496864
79	TTN	0.29430838
80	PRKDC	0.29326049
81	DAPK2	0.29026277
82	CSNK2A1	0.27706892
83	CDK1	0.27552314
84	VRK2	0.26080861
85	WEE1	0.26063775
86	PRKCG	0.24865576
87	MAP2K6	0.24057928
88	MAP3K14	0.22971356
89	STK16	0.22901855
90	RPS6KA1	0.22774525
91	PRKCQ	0.22462487
92	RPS6KA2	0.22039348
93	PRKACB	0.21931198
94	CAMK2A	0.21864124
95	PNCK	0.21625841
96	PRKG2	0.21536582
97	LATS1	0.21140162
98	MAPK1	0.19340430
99	PAK4	0.18891158
100	MAPK8	0.18115119

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid elongation_Homo sapiens_hsa00062	5.76715646
2	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	5.51071081
3	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	4.23658917
4	DNA replication_Homo sapiens_hsa03030	3.48374345
5	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	3.28240132
6	Base excision repair_Homo sapiens_hsa03410	3.06221482
7	Ribosome_Homo sapiens_hsa03010	2.76570779
8	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.74378853
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.58473527
10	Systemic lupus erythematosus_Homo sapiens_hsa05322	2.45077147
11	Mismatch repair_Homo sapiens_hsa03430	2.07520519
12	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.86913835
13	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.86690767
14	Basal cell carcinoma_Homo sapiens_hsa05217	1.83239034
15	Folate biosynthesis_Homo sapiens_hsa00790	1.80752278
16	RNA transport_Homo sapiens_hsa03013	1.77995176
17	One carbon pool by folate_Homo sapiens_hsa00670	1.73727758
18	Homologous recombination_Homo sapiens_hsa03440	1.65528390
19	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.64160721
20	Spliceosome_Homo sapiens_hsa03040	1.59636988
21	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.55584578
22	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.55445547
23	Cell cycle_Homo sapiens_hsa04110	1.33978035
24	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.32580721
25	Alcoholism_Homo sapiens_hsa05034	1.30174276
26	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.25311986
27	Other glycan degradation_Homo sapiens_hsa00511	1.24546640
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.22497664
29	Steroid biosynthesis_Homo sapiens_hsa00100	1.18705165
30	mRNA surveillance pathway_Homo sapiens_hsa03015	1.11606476
31	Type I diabetes mellitus_Homo sapiens_hsa04940	1.06885658
32	Regulation of autophagy_Homo sapiens_hsa04140	1.01656416
33	Nucleotide excision repair_Homo sapiens_hsa03420	0.98292562
34	Pyrimidine metabolism_Homo sapiens_hsa00240	0.96668983
35	Pentose phosphate pathway_Homo sapiens_hsa00030	0.96236023
36	Basal transcription factors_Homo sapiens_hsa03022	0.95237922
37	Allograft rejection_Homo sapiens_hsa05330	0.93290287
38	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.89558942
39	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.81828636
40	Salmonella infection_Homo sapiens_hsa05132	0.81596903
41	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.81289638
42	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.80926425
43	Glutathione metabolism_Homo sapiens_hsa00480	0.80520875
44	Carbon metabolism_Homo sapiens_hsa01200	0.80181961
45	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.79879525
46	Herpes simplex infection_Homo sapiens_hsa05168	0.77864564
47	Fanconi anemia pathway_Homo sapiens_hsa03460	0.75842683
48	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.72808659
49	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.71519745
50	Proteasome_Homo sapiens_hsa03050	0.69638685
51	Oocyte meiosis_Homo sapiens_hsa04114	0.67088866
52	Selenocompound metabolism_Homo sapiens_hsa00450	0.58943413
53	Primary immunodeficiency_Homo sapiens_hsa05340	0.58343578
54	p53 signaling pathway_Homo sapiens_hsa04115	0.57701692
55	Wnt signaling pathway_Homo sapiens_hsa04310	0.56209734
56	Viral carcinogenesis_Homo sapiens_hsa05203	0.55787456
57	Shigellosis_Homo sapiens_hsa05131	0.52534867
58	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52159080
59	Parkinsons disease_Homo sapiens_hsa05012	0.50274233
60	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.49651865
61	Metabolic pathways_Homo sapiens_hsa01100	0.47658043
62	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.44977109
63	Purine metabolism_Homo sapiens_hsa00230	0.44834897
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.44552297
65	Antigen processing and presentation_Homo sapiens_hsa04612	0.42368085
66	Adherens junction_Homo sapiens_hsa04520	0.42179690
67	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.41867253
68	Asthma_Homo sapiens_hsa05310	0.41732387
69	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.41604895
70	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.41403468
71	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.39550564
72	Pyruvate metabolism_Homo sapiens_hsa00620	0.38018057
73	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.35086449
74	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.33638076
75	Tight junction_Homo sapiens_hsa04530	0.32365545
76	African trypanosomiasis_Homo sapiens_hsa05143	0.32301382
77	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.30918702
78	Galactose metabolism_Homo sapiens_hsa00052	0.28919336
79	Hippo signaling pathway_Homo sapiens_hsa04390	0.27066258
80	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.24748784
81	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.24058705
82	Phenylalanine metabolism_Homo sapiens_hsa00360	0.23750480
83	Mineral absorption_Homo sapiens_hsa04978	0.21936140
84	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.21631174
85	Protein export_Homo sapiens_hsa03060	0.21221395
86	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.21193344
87	HTLV-I infection_Homo sapiens_hsa05166	0.19420360
88	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.17757954
89	Fatty acid metabolism_Homo sapiens_hsa01212	0.17621047
90	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.17591695
91	Non-homologous end-joining_Homo sapiens_hsa03450	0.15910250
92	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.12527645
93	Calcium signaling pathway_Homo sapiens_hsa04020	0.11021973
94	Leishmaniasis_Homo sapiens_hsa05140	0.10424500
95	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.09872094
96	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.09604973
97	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.08698279
98	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.08626725
99	Melanoma_Homo sapiens_hsa05218	0.08556506
100	Cardiac muscle contraction_Homo sapiens_hsa04260	0.07496279

ECEL1P1

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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