ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	microtubule depolymerization (GO:0007019)	6.50116837
2	sperm motility (GO:0030317)	6.19307994
3	phosphatidylethanolamine biosynthetic process (GO:0006646)	6.12951122
4	monoubiquitinated protein deubiquitination (GO:0035520)	5.99546224
5	protein polyglutamylation (GO:0018095)	5.77086307
6	chromosome condensation (GO:0030261)	5.73626312
7	phosphatidylethanolamine metabolic process (GO:0046337)	5.55960201
8	acrosome reaction (GO:0007340)	5.44782024
9	fusion of sperm to egg plasma membrane (GO:0007342)	5.30498884
10	DNA packaging (GO:0006323)	5.24690614
11	microtubule polymerization or depolymerization (GO:0031109)	4.98814168
12	regulation of chromatin binding (GO:0035561)	4.97714663
13	protein K48-linked deubiquitination (GO:0071108)	4.82293302
14	microtubule severing (GO:0051013)	4.43560698
15	sperm capacitation (GO:0048240)	4.40399141
16	sperm-egg recognition (GO:0035036)	4.19611018
17	binding of sperm to zona pellucida (GO:0007339)	4.12367047
18	plasma membrane fusion (GO:0045026)	3.99582989
19	spermatid development (GO:0007286)	3.89679106
20	musculoskeletal movement (GO:0050881)	3.82904319
21	multicellular organismal movement (GO:0050879)	3.82904319
22	chromatin silencing (GO:0006342)	3.73334295
23	nucleosome disassembly (GO:0006337)	3.72908689
24	protein-DNA complex disassembly (GO:0032986)	3.72908689
25	water-soluble vitamin biosynthetic process (GO:0042364)	3.68788497
26	calcium ion-dependent exocytosis (GO:0017156)	3.55701323
27	lung epithelium development (GO:0060428)	3.48885394
28	reflex (GO:0060004)	3.45492902
29	rRNA methylation (GO:0031167)	3.31239198
30	rRNA modification (GO:0000154)	3.28583094
31	cell-cell recognition (GO:0009988)	3.27530664
32	multicellular organism reproduction (GO:0032504)	3.25694372
33	response to misfolded protein (GO:0051788)	3.24750965
34	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	3.20094805
35	reproduction (GO:0000003)	3.16619842
36	spermatogenesis (GO:0007283)	3.14967700
37	male gamete generation (GO:0048232)	3.13905085
38	motile cilium assembly (GO:0044458)	3.08615221
39	cranial nerve morphogenesis (GO:0021602)	3.08191243
40	regulation of cilium movement (GO:0003352)	3.03998905
41	nephron tubule morphogenesis (GO:0072078)	3.00617517
42	nephron epithelium morphogenesis (GO:0072088)	3.00617517
43	RNA localization (GO:0006403)	2.90734649
44	axoneme assembly (GO:0035082)	2.90435597
45	gamete generation (GO:0007276)	2.89889482
46	regulation of histone H3-K27 methylation (GO:0061085)	2.88721936
47	spermatid nucleus differentiation (GO:0007289)	2.86861975
48	endothelial cell chemotaxis (GO:0035767)	2.86470902
49	phosphatidylcholine biosynthetic process (GO:0006656)	2.85488874
50	RNA destabilization (GO:0050779)	2.81738384
51	negative regulation of gene expression, epigenetic (GO:0045814)	2.80754341
52	peptidyl-lysine dimethylation (GO:0018027)	2.79665470
53	positive regulation of endothelial cell differentiation (GO:0045603)	2.77556953
54	cellular ketone body metabolic process (GO:0046950)	2.77358965
55	mitotic G1 DNA damage checkpoint (GO:0031571)	2.76585087
56	heterochromatin organization (GO:0070828)	2.74652544
57	indolalkylamine metabolic process (GO:0006586)	2.72733804
58	regulation of centriole replication (GO:0046599)	2.71835723
59	cilium movement (GO:0003341)	2.71817638
60	epithelial cilium movement (GO:0003351)	2.71727893
61	peptidyl-threonine dephosphorylation (GO:0035970)	2.71419715
62	peptidyl-glutamic acid modification (GO:0018200)	2.70490139
63	single strand break repair (GO:0000012)	2.70189795
64	respiratory tube development (GO:0030323)	2.69207145
65	exogenous drug catabolic process (GO:0042738)	2.68295430
66	nonmotile primary cilium assembly (GO:0035058)	2.67658947
67	oxygen transport (GO:0015671)	2.67331873
68	gas transport (GO:0015669)	2.66768191
69	sexual reproduction (GO:0019953)	2.64455022
70	drug catabolic process (GO:0042737)	2.64417648
71	nucleoside transmembrane transport (GO:1901642)	2.63855524
72	proline metabolic process (GO:0006560)	2.61900579
73	positive regulation of synapse maturation (GO:0090129)	2.61018645
74	cilium or flagellum-dependent cell motility (GO:0001539)	2.60314812
75	intracellular estrogen receptor signaling pathway (GO:0030520)	2.59206434
76	membrane depolarization during action potential (GO:0086010)	2.58901131
77	axonemal dynein complex assembly (GO:0070286)	2.57981991
78	cellular anion homeostasis (GO:0030002)	2.57585798
79	regulation of female gonad development (GO:2000194)	2.57363060
80	positive regulation of guanylate cyclase activity (GO:0031284)	2.56249075
81	limb development (GO:0060173)	2.54889361
82	appendage development (GO:0048736)	2.54889361
83	G1 DNA damage checkpoint (GO:0044783)	2.54641803
84	face development (GO:0060324)	2.53245934
85	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.52859806
86	ganglion development (GO:0061548)	2.52632822
87	basic amino acid transport (GO:0015802)	2.52583637
88	single fertilization (GO:0007338)	2.52184148
89	centriole assembly (GO:0098534)	2.52006648
90	centriole replication (GO:0007099)	2.51666732
91	gamma-aminobutyric acid transport (GO:0015812)	2.49631955
92	gene silencing (GO:0016458)	2.49275884
93	cellular biogenic amine catabolic process (GO:0042402)	2.49058405
94	amine catabolic process (GO:0009310)	2.49058405
95	protein localization to synapse (GO:0035418)	2.47957847
96	presynaptic membrane assembly (GO:0097105)	2.46497026
97	sex determination (GO:0007530)	2.45969313
98	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.45057909
99	histone H3-K9 demethylation (GO:0033169)	2.44724514
100	positive regulation of gene expression, epigenetic (GO:0045815)	2.44351847

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.31836837
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.21839834
3	LXR_22292898_ChIP-Seq_THP-1_Human	2.82657132
4	P68_20966046_ChIP-Seq_HELA_Human	2.75166796
5	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.68509450
6	DROSHA_22980978_ChIP-Seq_HELA_Human	2.66557857
7	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.49563657
8	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.44979001
9	* CTCF_27219007_Chip-Seq_Bcells_Human	2.41216235
10	BCL6_27268052_Chip-Seq_Bcells_Human	2.37418550
11	ELF1_20517297_ChIP-Seq_JURKAT_Human	2.35496797
12	* SMC4_20622854_ChIP-Seq_HELA_Human	2.31729276
13	E2F1_20622854_ChIP-Seq_HELA_Human	2.24802806
14	PHF8_20622854_ChIP-Seq_HELA_Human	2.13551745
15	CTCF_20526341_ChIP-Seq_ESCs_Human	2.06160463
16	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	2.02556892
17	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.95649735
18	BCOR_27268052_Chip-Seq_Bcells_Human	1.93984723
19	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.82641981
20	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.80225194
21	E2F7_22180533_ChIP-Seq_HELA_Human	1.79549912
22	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.77167348
23	VDR_22108803_ChIP-Seq_LS180_Human	1.71865906
24	TP63_22573176_ChIP-Seq_HFKS_Human	1.71780107
25	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.70791451
26	* RACK7_27058665_Chip-Seq_MCF-7_Human	1.66093942
27	CREB1_26743006_Chip-Seq_LNCaP_Human	1.65531805
28	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.64971427
29	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.63487563
30	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.59352547
31	ERA_21632823_ChIP-Seq_H3396_Human	1.58388711
32	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.57726680
33	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.57593609
34	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.54675463
35	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.52031732
36	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.51837466
37	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.49977910
38	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.49572033
39	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.47635560
40	P300_27268052_Chip-Seq_Bcells_Human	1.46317404
41	* RUNX1_27514584_Chip-Seq_MCF-7_Human	1.46158218
42	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.44885107
43	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.42076711
44	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.41441889
45	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.41441889
46	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	1.40999903
47	RAC3_21632823_ChIP-Seq_H3396_Human	1.40459098
48	SA1_27219007_Chip-Seq_Bcells_Human	1.39890062
49	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.38394422
50	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.37213888
51	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.34693963
52	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.32669791
53	* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.32209926
54	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.31769034
55	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.30746191
56	OCT4_19829295_ChIP-Seq_ESCs_Human	1.30664132
57	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.28524100
58	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.26677883
59	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.26168625
60	CTCF_21964334_Chip-Seq_Bcells_Human	1.25910961
61	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.25856834
62	E2F1_17053090_ChIP-ChIP_MCF-7_Human	1.25331463
63	* KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.23236753
64	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.21774868
65	MYC_22102868_ChIP-Seq_BL_Human	1.20993974
66	OCT4_20526341_ChIP-Seq_ESCs_Human	1.20504750
67	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.20092967
68	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.19826829
69	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.19775768
70	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.18754811
71	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.17179863
72	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.14029207
73	* KDM2B_26808549_Chip-Seq_DND41_Human	1.13670627
74	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.12649772
75	TAF2_19829295_ChIP-Seq_ESCs_Human	1.12476697
76	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.12165158
77	KLF5_25053715_ChIP-Seq_YYC3_Human	1.11604004
78	MYC_19829295_ChIP-Seq_ESCs_Human	1.10317350
79	* KDM2B_26808549_Chip-Seq_K562_Human	1.09971603
80	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.08348634
81	NANOG_20526341_ChIP-Seq_ESCs_Human	1.08082279
82	SOX2_22085726_ChIP-Seq_NPCs_Mouse	1.07552876
83	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.07147881
84	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.06905785
85	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.06848490
86	P53_21459846_ChIP-Seq_SAOS-2_Human	1.06739699
87	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.06520718
88	* KDM2B_26808549_Chip-Seq_JURKAT_Human	1.06325281
89	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.05112088
90	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.04919563
91	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.04848074
92	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.01554726
93	GATA1_19941826_ChIP-Seq_K562_Human	1.01127632
94	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.00518576
95	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.99740536
96	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.99167623
97	IRF1_19129219_ChIP-ChIP_H3396_Human	0.99041511
98	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.99004764
99	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.98754332
100	TP53_22127205_ChIP-Seq_IMR90_Human	0.97672809

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005377_hearing/vestibular/ear_phenot	5.82455152
2	MP0003878_abnormal_ear_physiology	5.82455152
3	MP0005410_abnormal_fertilization	4.13291805
4	MP0003880_abnormal_central_pattern	3.43904550
5	MP0004742_abnormal_vestibular_system	3.42608254
6	MP0003879_abnormal_hair_cell	3.21889265
7	MP0003646_muscle_fatigue	3.03126608
8	MP0005670_abnormal_white_adipose	2.86994751
9	MP0002249_abnormal_larynx_morphology	2.55237926
10	MP0005645_abnormal_hypothalamus_physiol	2.43347471
11	MP0004147_increased_porphyrin_level	2.35152203
12	MP0000569_abnormal_digit_pigmentation	2.20812248
13	MP0002822_catalepsy	2.19972781
14	MP0008789_abnormal_olfactory_epithelium	2.07369312
15	MP0003698_abnormal_male_reproductive	1.92579955
16	MP0008995_early_reproductive_senescence	1.89508873
17	MP0001486_abnormal_startle_reflex	1.88492578
18	MP0003123_paternal_imprinting	1.79819884
19	MP0006276_abnormal_autonomic_nervous	1.64335046
20	MP0005451_abnormal_body_composition	1.63520979
21	MP0005360_urolithiasis	1.62944847
22	MP0000678_abnormal_parathyroid_gland	1.61713501
23	MP0005499_abnormal_olfactory_system	1.58647075
24	MP0005394_taste/olfaction_phenotype	1.58647075
25	MP0005083_abnormal_biliary_tract	1.57199652
26	MP0000026_abnormal_inner_ear	1.50900929
27	MP0004133_heterotaxia	1.48374788
28	MP0001929_abnormal_gametogenesis	1.45508516
29	MP0002557_abnormal_social/conspecific_i	1.40583111
30	MP0002735_abnormal_chemical_nociception	1.39645384
31	MP0006292_abnormal_olfactory_placode	1.39042707
32	MP0004043_abnormal_pH_regulation	1.37929165
33	MP0001188_hyperpigmentation	1.36907693
34	MP0001963_abnormal_hearing_physiology	1.34633000
35	MP0004264_abnormal_extraembryonic_tissu	1.32560473
36	MP0001348_abnormal_lacrimal_gland	1.23249016
37	MP0005167_abnormal_blood-brain_barrier	1.19931957
38	MP0008875_abnormal_xenobiotic_pharmacok	1.19172457
39	MP0003718_maternal_effect	1.19143757
40	MP0004233_abnormal_muscle_weight	1.17242494
41	MP0002161_abnormal_fertility/fecundity	1.16345143
42	MP0005423_abnormal_somatic_nervous	1.13258032
43	MP0002736_abnormal_nociception_after	1.13004642
44	MP0001968_abnormal_touch/_nociception	1.11982097
45	MP0004885_abnormal_endolymph	1.09092476
46	MP0001529_abnormal_vocalization	1.08575883
47	MP0006072_abnormal_retinal_apoptosis	1.08004764
48	MP0002067_abnormal_sensory_capabilities	1.07492340
49	MP0003122_maternal_imprinting	1.06701281
50	MP0000681_abnormal_thyroid_gland	1.06659905
51	MP0003195_calcinosis	1.05491296
52	MP0001485_abnormal_pinna_reflex	1.04927127
53	MP0002210_abnormal_sex_determination	1.03361528
54	MP0010329_abnormal_lipoprotein_level	1.02635093
55	MP0003656_abnormal_erythrocyte_physiolo	1.02584384
56	MP0002089_abnormal_postnatal_growth/wei	1.01529753
57	MP0001666_abnormal_nutrient_absorption	0.99426753
58	MP0009697_abnormal_copulation	0.98553333
59	MP0005551_abnormal_eye_electrophysiolog	0.98444325
60	MP0008961_abnormal_basal_metabolism	0.98008031
61	MP0002229_neurodegeneration	0.98001671
62	MP0002733_abnormal_thermal_nociception	0.94096023
63	MP0005332_abnormal_amino_acid	0.90512127
64	MP0001905_abnormal_dopamine_level	0.90407841
65	MP0002653_abnormal_ependyma_morphology	0.89670109
66	MP0009278_abnormal_bone_marrow	0.89448202
67	MP0001765_abnormal_ion_homeostasis	0.88736949
68	MP0001501_abnormal_sleep_pattern	0.88442931
69	MP0003942_abnormal_urinary_system	0.85912254
70	MP0001970_abnormal_pain_threshold	0.85091311
71	MP0009115_abnormal_fat_cell	0.81339866
72	MP0002928_abnormal_bile_duct	0.80037123
73	MP0004145_abnormal_muscle_electrophysio	0.79564086
74	MP0005386_behavior/neurological_phenoty	0.79091047
75	MP0004924_abnormal_behavior	0.79091047
76	MP0001440_abnormal_grooming_behavior	0.78397584
77	MP0003632_abnormal_nervous_system	0.78033546
78	MP0010094_abnormal_chromosome_stability	0.76610260
79	MP0001145_abnormal_male_reproductive	0.75110119
80	MP0002734_abnormal_mechanical_nocicepti	0.74621139
81	MP0000653_abnormal_sex_gland	0.72328486
82	MP0003115_abnormal_respiratory_system	0.72261336
83	MP0000538_abnormal_urinary_bladder	0.70849444
84	MP0002932_abnormal_joint_morphology	0.69819138
85	MP0003631_nervous_system_phenotype	0.67782635
86	MP0003786_premature_aging	0.67335426
87	MP0008872_abnormal_physiological_respon	0.67190189
88	MP0002752_abnormal_somatic_nervous	0.65997570
89	MP0001502_abnormal_circadian_rhythm	0.64898239
90	MP0000003_abnormal_adipose_tissue	0.63841261
91	MP0002272_abnormal_nervous_system	0.61900632
92	MP0002876_abnormal_thyroid_physiology	0.60623860
93	MP0000534_abnormal_ureter_morphology	0.60502821
94	MP0003638_abnormal_response/metabolism_	0.60274824
95	MP0003119_abnormal_digestive_system	0.60156372
96	MP0003111_abnormal_nucleus_morphology	0.59303422
97	MP0004858_abnormal_nervous_system	0.56907331
98	MP0005666_abnormal_adipose_tissue	0.55090482
99	MP0005375_adipose_tissue_phenotype	0.54312266
100	MP0002572_abnormal_emotion/affect_behav	0.54304203

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Genetic anticipation (HP:0003743)	5.02527193
2	Cutaneous melanoma (HP:0012056)	4.35425006
3	Hyperglycinemia (HP:0002154)	3.86375955
4	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	3.74663052
5	Severe visual impairment (HP:0001141)	3.72882880
6	Methylmalonic acidemia (HP:0002912)	3.68420691
7	Hypoplastic ischia (HP:0003175)	3.57553799
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.34290175
9	Progressive cerebellar ataxia (HP:0002073)	3.27436250
10	Methylmalonic aciduria (HP:0012120)	3.26656006
11	Abnormality of the parathyroid morphology (HP:0011766)	3.22237328
12	Abnormality of the pubic bones (HP:0003172)	3.21616309
13	Bell-shaped thorax (HP:0001591)	3.16840018
14	Congenital sensorineural hearing impairment (HP:0008527)	3.14516947
15	Visual hallucinations (HP:0002367)	3.02722387
16	Reticulocytosis (HP:0001923)	2.96450138
17	Abnormality of the ischium (HP:0003174)	2.95205954
18	Diplopia (HP:0000651)	2.88339725
19	Abnormality of binocular vision (HP:0011514)	2.88339725
20	Absent epiphyses (HP:0010577)	2.86615438
21	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	2.86615438
22	Hyperkalemia (HP:0002153)	2.85993296
23	Abnormality of homocysteine metabolism (HP:0010919)	2.82522851
24	Homocystinuria (HP:0002156)	2.82522851
25	Abnormality of the aortic arch (HP:0012303)	2.70299381
26	Chronic bronchitis (HP:0004469)	2.67814713
27	Abnormal respiratory motile cilium physiology (HP:0012261)	2.63853699
28	Bony spicule pigmentary retinopathy (HP:0007737)	2.61367845
29	Abnormality of the fingertips (HP:0001211)	2.59120975
30	Confusion (HP:0001289)	2.53466523
31	Tubulointerstitial nephritis (HP:0001970)	2.52131310
32	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.51107159
33	Postural instability (HP:0002172)	2.49870460
34	Metaphyseal cupping (HP:0003021)	2.49801722
35	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.46204392
36	Duplicated collecting system (HP:0000081)	2.45342149
37	Renovascular hypertension (HP:0100817)	2.43592309
38	Impulsivity (HP:0100710)	2.40110035
39	Poikilocytosis (HP:0004447)	2.38069560
40	Urethral obstruction (HP:0000796)	2.35682906
41	Congenital stationary night blindness (HP:0007642)	2.32038872
42	Abnormality of the renal collecting system (HP:0004742)	2.26576048
43	Chromsome breakage (HP:0040012)	2.25134719
44	Neoplasm of the heart (HP:0100544)	2.23803916
45	Abnormality of dental color (HP:0011073)	2.23030206
46	Chronic hepatic failure (HP:0100626)	2.22106426
47	Gaze-evoked nystagmus (HP:0000640)	2.19257217
48	Neurodegeneration (HP:0002180)	2.18111605
49	Abnormality of vitamin B metabolism (HP:0004340)	2.15987001
50	Bilateral microphthalmos (HP:0007633)	2.14603385
51	Abnormality of pyrimidine metabolism (HP:0004353)	2.09371804
52	Abdominal distention (HP:0003270)	2.08547804
53	Bicornuate uterus (HP:0000813)	2.08167138
54	Hypoplasia of the thymus (HP:0000778)	2.08128448
55	Delayed epiphyseal ossification (HP:0002663)	2.06216081
56	Abnormality of reticulocytes (HP:0004312)	2.06124199
57	Obsessive-compulsive behavior (HP:0000722)	2.05841619
58	Lip pit (HP:0100267)	2.05604184
59	Flattened epiphyses (HP:0003071)	2.03859708
60	Abnormality of glycine metabolism (HP:0010895)	2.03205592
61	Abnormality of serine family amino acid metabolism (HP:0010894)	2.03205592
62	Lymphangioma (HP:0100764)	2.03071731
63	Facial shape deformation (HP:0011334)	2.00100214
64	Potter facies (HP:0002009)	2.00100214
65	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.97911873
66	Prolonged partial thromboplastin time (HP:0003645)	1.97261750
67	Abnormal ciliary motility (HP:0012262)	1.96261208
68	Deep venous thrombosis (HP:0002625)	1.92608282
69	Aplasia/Hypoplasia of the earlobes (HP:0009906)	1.89714060
70	Nephronophthisis (HP:0000090)	1.89155048
71	Rhinitis (HP:0012384)	1.87609304
72	Abnormality of monocarboxylic acid metabolism (HP:0010996)	1.87596406
73	Cystic liver disease (HP:0006706)	1.84807163
74	Flat acetabular roof (HP:0003180)	1.83628828
75	Hypothermia (HP:0002045)	1.82808842
76	Protuberant abdomen (HP:0001538)	1.79359049
77	Meningioma (HP:0002858)	1.78629905
78	Amelogenesis imperfecta (HP:0000705)	1.78426770
79	Hypoplasia of the capital femoral epiphysis (HP:0003090)	1.78153848
80	Absent/shortened dynein arms (HP:0200106)	1.77329510
81	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.77329510
82	Respiratory distress (HP:0002098)	1.76820196
83	Abnormal gallbladder physiology (HP:0012438)	1.76789263
84	Cholecystitis (HP:0001082)	1.76789263
85	Hypoalphalipoproteinemia (HP:0003233)	1.75906238
86	Stage 5 chronic kidney disease (HP:0003774)	1.75251986
87	Spastic paraparesis (HP:0002313)	1.75246823
88	Abnormal respiratory motile cilium morphology (HP:0005938)	1.74240942
89	Abnormal respiratory epithelium morphology (HP:0012253)	1.74240942
90	Abnormality of lateral ventricle (HP:0030047)	1.73738985
91	Abnormality of the femoral head (HP:0003368)	1.72605133
92	Broad distal phalanx of finger (HP:0009836)	1.72356659
93	Subcapsular cataract (HP:0000523)	1.72232487
94	Aplasia/Hypoplasia involving the pelvis (HP:0009103)	1.71939465
95	Amblyopia (HP:0000646)	1.71022781
96	Abnormality of the epiphysis of the femoral head (HP:0010574)	1.70825120
97	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.70465032
98	Dicarboxylic aciduria (HP:0003215)	1.70465032
99	Impaired smooth pursuit (HP:0007772)	1.70387156
100	Attenuation of retinal blood vessels (HP:0007843)	1.69055844

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	6.27540395
2	PLK4	4.20343193
3	LATS1	3.24272388
4	MST1R	3.12758593
5	TAOK1	2.89717706
6	SIK2	2.88691074
7	CDK12	2.69827520
8	FRK	2.64326342
9	TRIB3	2.62077652
10	STK16	2.41936009
11	NEK6	2.39827114
12	MAP4K2	2.21074750
13	NME1	1.99679906
14	EPHA2	1.94844542
15	DDR2	1.74278020
16	ICK	1.73211830
17	NEK2	1.71089714
18	MAP3K10	1.69051246
19	CAMK1G	1.52342211
20	DYRK3	1.50476531
21	CAMK1D	1.47721397
22	WNK4	1.46775489
23	SMG1	1.42458999
24	CDK7	1.42198132
25	EEF2K	1.35597476
26	FGFR2	1.35094212
27	BRD4	1.34656604
28	CDC7	1.17864770
29	TNK2	1.16524305
30	TLK1	1.15562100
31	TESK1	1.11494801
32	MAPK15	1.08139614
33	GRK1	1.05647877
34	AKT3	1.01423945
35	MAP3K7	1.00215787
36	PKN2	0.99867530
37	TAOK3	0.99142829
38	ERN1	0.98912927
39	STK38	0.95973973
40	WNK1	0.95313427
41	EIF2AK1	0.95204273
42	MTOR	0.94301020
43	SIK1	0.94023104
44	STK38L	0.88841776
45	MET	0.88033349
46	MUSK	0.85644833
47	CDK4	0.83041070
48	CAMK4	0.83029071
49	PASK	0.82083895
50	CAMKK1	0.79046618
51	DYRK1B	0.79010686
52	MATK	0.75394579
53	PRKD3	0.75225217
54	NUAK1	0.74656164
55	CDK2	0.73282930
56	MAP2K2	0.68121867
57	MAPKAPK3	0.64626935
58	RPS6KL1	0.63151145
59	RPS6KC1	0.63151145
60	PNCK	0.62858045
61	PRKAA1	0.62149997
62	RPS6KA6	0.61468710
63	CDK1	0.61381300
64	ERBB2	0.56687475
65	GSK3B	0.56094930
66	UHMK1	0.54937333
67	NTRK2	0.51662210
68	CHUK	0.51072144
69	ATR	0.50599606
70	CAMK1	0.50496998
71	PDPK1	0.49796383
72	BMX	0.48589101
73	RPS6KB2	0.47228124
74	ZAK	0.46145740
75	MAPK8	0.46087438
76	MAPK7	0.46034028
77	MAPK13	0.45037675
78	CHEK1	0.44171718
79	TESK2	0.43931632
80	IRAK2	0.43208650
81	FGFR4	0.42665133
82	MAPK14	0.41956145
83	SGK1	0.40944965
84	KIT	0.40292257
85	PLK1	0.39151277
86	PRPF4B	0.38931815
87	TIE1	0.38494728
88	ITK	0.37793997
89	NTRK3	0.37764293
90	RPS6KA2	0.36073372
91	PRKAA2	0.35948327
92	MAPK11	0.34819619
93	RPS6KA4	0.33573309
94	AKT1	0.32968678
95	TYRO3	0.32847741
96	PTK2B	0.32225952
97	CHEK2	0.30600051
98	CSNK1A1	0.30300560
99	PRKG2	0.30277226
100	GRK6	0.28695990

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid biosynthesis_Homo sapiens_hsa00061	3.80495461
2	Nicotine addiction_Homo sapiens_hsa05033	3.04277320
3	ABC transporters_Homo sapiens_hsa02010	2.57169895
4	Phenylalanine metabolism_Homo sapiens_hsa00360	2.35045527
5	Arginine biosynthesis_Homo sapiens_hsa00220	2.21475610
6	Lysine degradation_Homo sapiens_hsa00310	2.21282753
7	Base excision repair_Homo sapiens_hsa03410	2.21269514
8	Glycerophospholipid metabolism_Homo sapiens_hsa00564	2.17404808
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.15446501
10	Caffeine metabolism_Homo sapiens_hsa00232	2.06522597
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.87975013
12	Fat digestion and absorption_Homo sapiens_hsa04975	1.76155482
13	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.73661458
14	Histidine metabolism_Homo sapiens_hsa00340	1.73453269
15	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.71316487
16	Arginine and proline metabolism_Homo sapiens_hsa00330	1.70685899
17	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.68326159
18	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.67706436
19	Taste transduction_Homo sapiens_hsa04742	1.61698777
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.56747332
21	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.52198926
22	DNA replication_Homo sapiens_hsa03030	1.47606983
23	Fatty acid degradation_Homo sapiens_hsa00071	1.47130723
24	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.40076899
25	Retinol metabolism_Homo sapiens_hsa00830	1.39549622
26	Type II diabetes mellitus_Homo sapiens_hsa04930	1.38858469
27	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.36880515
28	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.36486843
29	Nitrogen metabolism_Homo sapiens_hsa00910	1.34149190
30	Chemical carcinogenesis_Homo sapiens_hsa05204	1.30055614
31	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.26815709
32	Bile secretion_Homo sapiens_hsa04976	1.22581167
33	Ether lipid metabolism_Homo sapiens_hsa00565	1.21057180
34	Basal cell carcinoma_Homo sapiens_hsa05217	1.19777807
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.19680254
36	Butanoate metabolism_Homo sapiens_hsa00650	1.19329694
37	Fatty acid metabolism_Homo sapiens_hsa01212	1.18775857
38	Olfactory transduction_Homo sapiens_hsa04740	1.17072046
39	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.16708374
40	Phototransduction_Homo sapiens_hsa04744	1.13268701
41	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.05029338
42	Tyrosine metabolism_Homo sapiens_hsa00350	1.01992498
43	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.98322873
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.94753571
45	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.93850341
46	Glutamatergic synapse_Homo sapiens_hsa04724	0.93438872
47	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.92664385
48	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.92538397
49	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.84762190
50	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.83573231
51	RNA transport_Homo sapiens_hsa03013	0.82880062
52	Glycerolipid metabolism_Homo sapiens_hsa00561	0.81976795
53	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.79965080
54	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.79759066
55	Circadian entrainment_Homo sapiens_hsa04713	0.79662689
56	Serotonergic synapse_Homo sapiens_hsa04726	0.79249888
57	PPAR signaling pathway_Homo sapiens_hsa03320	0.77344715
58	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.77009422
59	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.76661969
60	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.74990971
61	Pyrimidine metabolism_Homo sapiens_hsa00240	0.73979116
62	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.68720618
63	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.63619651
64	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.62859966
65	Notch signaling pathway_Homo sapiens_hsa04330	0.61573029
66	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.60489341
67	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.59958898
68	Spliceosome_Homo sapiens_hsa03040	0.59900188
69	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.59112529
70	Renin-angiotensin system_Homo sapiens_hsa04614	0.59085482
71	Purine metabolism_Homo sapiens_hsa00230	0.58887174
72	Complement and coagulation cascades_Homo sapiens_hsa04610	0.58444685
73	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.56670782
74	Sulfur relay system_Homo sapiens_hsa04122	0.54872410
75	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.54574641
76	mRNA surveillance pathway_Homo sapiens_hsa03015	0.54549986
77	Nucleotide excision repair_Homo sapiens_hsa03420	0.53455277
78	Cell cycle_Homo sapiens_hsa04110	0.51669514
79	Carbon metabolism_Homo sapiens_hsa01200	0.51625563
80	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.50549528
81	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.48888524
82	Insulin resistance_Homo sapiens_hsa04931	0.48246074
83	Metabolic pathways_Homo sapiens_hsa01100	0.47367517
84	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.47265455
85	Calcium signaling pathway_Homo sapiens_hsa04020	0.46492941
86	Insulin secretion_Homo sapiens_hsa04911	0.46329926
87	Peroxisome_Homo sapiens_hsa04146	0.45777468
88	Mismatch repair_Homo sapiens_hsa03430	0.44915467
89	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.44353077
90	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.43435250
91	Cocaine addiction_Homo sapiens_hsa05030	0.42585377
92	Cholinergic synapse_Homo sapiens_hsa04725	0.42467810
93	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.42121880
94	beta-Alanine metabolism_Homo sapiens_hsa00410	0.40418343
95	RNA polymerase_Homo sapiens_hsa03020	0.40046123
96	Insulin signaling pathway_Homo sapiens_hsa04910	0.38477020
97	Estrogen signaling pathway_Homo sapiens_hsa04915	0.34602723
98	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.34600749
99	Protein digestion and absorption_Homo sapiens_hsa04974	0.34398501
100	Other glycan degradation_Homo sapiens_hsa00511	0.33904171

ESPNP

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)

Most similar genes based on co-expression Upload to Enrichr

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