ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	rRNA methylation (GO:0031167)	7.22023939
2	rRNA modification (GO:0000154)	6.74695342
3	DNA deamination (GO:0045006)	6.33822919
4	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	5.86504720
5	protein deneddylation (GO:0000338)	4.61448422
6	cytidine metabolic process (GO:0046087)	4.56792199
7	cytidine catabolic process (GO:0006216)	4.56792199
8	cytidine deamination (GO:0009972)	4.56792199
9	cullin deneddylation (GO:0010388)	4.36521503
10	proteasome assembly (GO:0043248)	4.21302734
11	cellular response to interleukin-15 (GO:0071350)	4.18812610
12	negative regulation of neurotransmitter transport (GO:0051589)	4.13851220
13	negative regulation of protein acetylation (GO:1901984)	3.86735922
14	retinal rod cell development (GO:0046548)	3.85973231
15	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.85796538
16	ribonucleoprotein complex disassembly (GO:0032988)	3.66304734
17	negative regulation of neurotransmitter secretion (GO:0046929)	3.64135628
18	chaperone-mediated protein transport (GO:0072321)	3.55275652
19	negative regulation by host of viral transcription (GO:0043922)	3.53646973
20	negative regulation of peptidyl-lysine acetylation (GO:2000757)	3.52985838
21	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	3.51951907
22	respiratory chain complex IV assembly (GO:0008535)	3.46069474
23	transcription from mitochondrial promoter (GO:0006390)	3.44162436
24	mitochondrial respiratory chain complex assembly (GO:0033108)	3.44062596
25	positive regulation of lymphocyte migration (GO:2000403)	3.40036099
26	negative regulation of histone acetylation (GO:0035067)	3.30873184
27	GTP biosynthetic process (GO:0006183)	3.30663847
28	regulation of immunoglobulin secretion (GO:0051023)	3.29044734
29	ATP synthesis coupled proton transport (GO:0015986)	3.27384975
30	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.27384975
31	regulation of response to osmotic stress (GO:0047484)	3.24852638
32	histone mRNA catabolic process (GO:0071044)	3.23906517
33	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.22415570
34	NADH dehydrogenase complex assembly (GO:0010257)	3.22415570
35	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.22415570
36	protein complex biogenesis (GO:0070271)	3.21265326
37	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	3.20608673
38	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	3.20608673
39	isotype switching (GO:0045190)	3.20608673
40	DNA double-strand break processing (GO:0000729)	3.15688143
41	cytochrome complex assembly (GO:0017004)	3.11198242
42	maturation of 5.8S rRNA (GO:0000460)	3.10191736
43	DNA replication-dependent nucleosome organization (GO:0034723)	3.10086215
44	DNA replication-dependent nucleosome assembly (GO:0006335)	3.10086215
45	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	3.07107650
46	fusion of sperm to egg plasma membrane (GO:0007342)	3.05866342
47	neural tube formation (GO:0001841)	3.05509266
48	otic vesicle formation (GO:0030916)	3.05023541
49	histone mRNA metabolic process (GO:0008334)	3.02221630
50	protein maturation by protein folding (GO:0022417)	2.99610106
51	synapsis (GO:0007129)	2.98949424
52	regulation of mitochondrial translation (GO:0070129)	2.96155025
53	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.95771621
54	regulation of DNA endoreduplication (GO:0032875)	2.92839452
55	fucose catabolic process (GO:0019317)	2.90016294
56	L-fucose metabolic process (GO:0042354)	2.90016294
57	L-fucose catabolic process (GO:0042355)	2.90016294
58	positive regulation of T cell migration (GO:2000406)	2.89057334
59	preassembly of GPI anchor in ER membrane (GO:0016254)	2.86225709
60	regulation of B cell apoptotic process (GO:0002902)	2.86112793
61	ribosome biogenesis (GO:0042254)	2.83031049
62	leukotriene biosynthetic process (GO:0019370)	2.82356982
63	regulation of meiosis I (GO:0060631)	2.82132819
64	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.79354619
65	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.76871279
66	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.76322189
67	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.75316991
68	mitochondrial RNA metabolic process (GO:0000959)	2.74967896
69	organelle disassembly (GO:1903008)	2.71059237
70	response to interleukin-15 (GO:0070672)	2.69438042
71	DNA demethylation (GO:0080111)	2.68910811
72	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.68274140
73	regulation of lymphocyte chemotaxis (GO:1901623)	2.67659688
74	viral mRNA export from host cell nucleus (GO:0046784)	2.65336368
75	nucleoside diphosphate phosphorylation (GO:0006165)	2.65166855
76	opioid receptor signaling pathway (GO:0038003)	2.64071867
77	negative regulation of epidermal cell differentiation (GO:0045605)	2.63642541
78	pseudouridine synthesis (GO:0001522)	2.63189852
79	regulation of mitotic spindle checkpoint (GO:1903504)	2.62558444
80	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.62558444
81	negative regulation of RNA splicing (GO:0033119)	2.59691501
82	kynurenine metabolic process (GO:0070189)	2.59429861
83	multicellular organism reproduction (GO:0032504)	2.58880690
84	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.58148770
85	regulation of translational termination (GO:0006449)	2.57734176
86	positive regulation of viral genome replication (GO:0045070)	2.56754258
87	positive regulation of defense response to virus by host (GO:0002230)	2.51534041
88	folic acid transport (GO:0015884)	2.50901911
89	positive regulation of interleukin-2 biosynthetic process (GO:0045086)	2.50733406
90	N-terminal protein amino acid acetylation (GO:0006474)	2.50411486
91	UTP biosynthetic process (GO:0006228)	2.49290306
92	protein localization to mitochondrion (GO:0070585)	2.48614865
93	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.46488585
94	S-adenosylmethionine metabolic process (GO:0046500)	2.46467055
95	positive regulation of mRNA processing (GO:0050685)	2.45790636
96	tryptophan catabolic process (GO:0006569)	2.45718499
97	indole-containing compound catabolic process (GO:0042436)	2.45718499
98	indolalkylamine catabolic process (GO:0046218)	2.45718499
99	pathway-restricted SMAD protein phosphorylation (GO:0060389)	2.44711042
100	positive regulation of interleukin-8 biosynthetic process (GO:0045416)	2.44606009

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	4.95899705
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.21989260
3	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	4.03244887
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.73933338
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.73623372
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.01783430
7	VDR_22108803_ChIP-Seq_LS180_Human	2.85069009
8	ELK1_19687146_ChIP-ChIP_HELA_Human	2.83268280
9	VDR_23849224_ChIP-Seq_CD4+_Human	2.56922479
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.29808105
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.27479442
12	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.15864746
13	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.02992232
14	IGF1R_20145208_ChIP-Seq_DFB_Human	1.88199685
15	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.84187135
16	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.83221647
17	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.81793577
18	FOXP3_21729870_ChIP-Seq_TREG_Human	1.81699347
19	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.81496887
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.80908692
21	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.80825551
22	EWS_26573619_Chip-Seq_HEK293_Human	1.78319058
23	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.74518765
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.73968608
25	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.69817825
26	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.69307984
27	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.69065086
28	TP53_22573176_ChIP-Seq_HFKS_Human	1.59373720
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.58319460
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.54253624
31	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.52948813
32	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.52948813
33	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.50747218
34	AR_21909140_ChIP-Seq_LNCAP_Human	1.48959356
35	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.48343496
36	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.48340404
37	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.47096008
38	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.46666485
39	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.46238689
40	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.41734202
41	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.41438783
42	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.41377404
43	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.37234748
44	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.35614493
45	ERG_20517297_ChIP-Seq_VCAP_Human	1.35399301
46	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.35262463
47	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.34936563
48	AR_20517297_ChIP-Seq_VCAP_Human	1.33207476
49	P300_19829295_ChIP-Seq_ESCs_Human	1.31715927
50	DCP1A_22483619_ChIP-Seq_HELA_Human	1.31708159
51	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.31188926
52	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.28960028
53	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.28372762
54	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.26738096
55	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.25171066
56	HTT_18923047_ChIP-ChIP_STHdh_Human	1.23681054
57	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.23352135
58	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.22781866
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.19154054
60	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.15088985
61	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.14154313
62	TTF2_22483619_ChIP-Seq_HELA_Human	1.13969023
63	BCAT_22108803_ChIP-Seq_LS180_Human	1.13407355
64	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.12610617
65	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.12540866
66	MYC_18940864_ChIP-ChIP_HL60_Human	1.12219445
67	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12195689
68	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.10649758
69	ER_23166858_ChIP-Seq_MCF-7_Human	1.09788738
70	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.09332348
71	PHF8_20622853_ChIP-Seq_HELA_Human	1.08889906
72	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.08311326
73	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.08025497
74	NFYA_21822215_ChIP-Seq_K562_Human	1.07497413
75	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.06445994
76	ASXL1_24218140_ChIP-Seq_BMDM_Mouse	1.06318342
77	RBPJ_21746931_ChIP-Seq_IB4_Human	1.05698806
78	GABP_19822575_ChIP-Seq_HepG2_Human	1.05138439
79	GATA3_26560356_Chip-Seq_TH2_Human	1.03760509
80	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03693935
81	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.03580880
82	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.00177678
83	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.98930606
84	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.98900454
85	KDM5A_27292631_Chip-Seq_BREAST_Human	0.98799013
86	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.96891713
87	NFYB_21822215_ChIP-Seq_K562_Human	0.96268921
88	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.96266213
89	TCF4_22108803_ChIP-Seq_LS180_Human	0.96248772
90	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95633695
91	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.94322785
92	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.92455338
93	NANOG_19829295_ChIP-Seq_ESCs_Human	0.92151303
94	SOX2_19829295_ChIP-Seq_ESCs_Human	0.92151303
95	FUS_26573619_Chip-Seq_HEK293_Human	0.91944074
96	NANOG_20526341_ChIP-Seq_ESCs_Human	0.90294977
97	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.90137691
98	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	0.89584384
99	CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.89577000
100	SCL_19346495_ChIP-Seq_HPC-7_Human	0.88578969

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	5.17069212
2	MP0003786_premature_aging	3.26928945
3	MP0002138_abnormal_hepatobiliary_system	2.96175357
4	MP0003646_muscle_fatigue	2.85465442
5	MP0003878_abnormal_ear_physiology	2.64511244
6	MP0005377_hearing/vestibular/ear_phenot	2.64511244
7	MP0000372_irregular_coat_pigmentation	2.62632685
8	MP0005075_abnormal_melanosome_morpholog	2.49181112
9	MP0005085_abnormal_gallbladder_physiolo	2.34909978
10	MP0002837_dystrophic_cardiac_calcinosis	2.33910207
11	MP0005408_hypopigmentation	2.29012070
12	MP0004134_abnormal_chest_morphology	2.14158151
13	MP0009333_abnormal_splenocyte_physiolog	2.12742107
14	MP0003011_delayed_dark_adaptation	2.12354728
15	MP0001529_abnormal_vocalization	2.08866294
16	MP0005083_abnormal_biliary_tract	2.02648174
17	MP0005671_abnormal_response_to	2.01634529
18	MP0008877_abnormal_DNA_methylation	1.99027546
19	MP0002163_abnormal_gland_morphology	1.96805640
20	MP0005646_abnormal_pituitary_gland	1.95328748
21	MP0006072_abnormal_retinal_apoptosis	1.85057670
22	MP0002277_abnormal_respiratory_mucosa	1.83258268
23	MP0000569_abnormal_digit_pigmentation	1.79824233
24	MP0004381_abnormal_hair_follicle	1.71870696
25	MP0005171_absent_coat_pigmentation	1.69977631
26	MP0001835_abnormal_antigen_presentation	1.63761723
27	MP0005174_abnormal_tail_pigmentation	1.61170471
28	MP0008995_early_reproductive_senescence	1.60175496
29	MP0003252_abnormal_bile_duct	1.55300389
30	MP0000613_abnormal_salivary_gland	1.53184475
31	MP0006036_abnormal_mitochondrial_physio	1.50910679
32	MP0005084_abnormal_gallbladder_morpholo	1.48114050
33	MP0005253_abnormal_eye_physiology	1.46087738
34	MP0005379_endocrine/exocrine_gland_phen	1.40760063
35	MP0003195_calcinosis	1.38270438
36	MP0003045_fibrosis	1.36832597
37	MP0003283_abnormal_digestive_organ	1.31967346
38	MP0005187_abnormal_penis_morphology	1.31737162
39	MP0006035_abnormal_mitochondrial_morpho	1.31267347
40	MP0003137_abnormal_impulse_conducting	1.29276675
41	MP0002095_abnormal_skin_pigmentation	1.29001515
42	MP0005551_abnormal_eye_electrophysiolog	1.27623989
43	MP0000049_abnormal_middle_ear	1.25062438
44	MP0009697_abnormal_copulation	1.24980744
45	MP0003718_maternal_effect	1.23725993
46	MP0006292_abnormal_olfactory_placode	1.22852101
47	MP0005647_abnormal_sex_gland	1.22738002
48	MP0002090_abnormal_vision	1.21533079
49	MP0001800_abnormal_humoral_immune	1.20816191
50	MP0004145_abnormal_muscle_electrophysio	1.19890668
51	MP0004510_myositis	1.19206051
52	MP0005464_abnormal_platelet_physiology	1.18261070
53	MP0000604_amyloidosis	1.15036661
54	MP0005248_abnormal_Harderian_gland	1.14183680
55	MP0002736_abnormal_nociception_after	1.13627961
56	MP0005167_abnormal_blood-brain_barrier	1.13258394
57	MP0000371_diluted_coat_color	1.12891460
58	MP0005387_immune_system_phenotype	1.10383349
59	MP0001790_abnormal_immune_system	1.10383349
60	MP0001485_abnormal_pinna_reflex	1.10328824
61	MP0004885_abnormal_endolymph	1.08389197
62	MP0005000_abnormal_immune_tolerance	1.06535520
63	MP0001968_abnormal_touch/_nociception	1.05018919
64	MP0000647_abnormal_sebaceous_gland	1.02399937
65	MP0003136_yellow_coat_color	1.01537330
66	MP0002723_abnormal_immune_serum	1.00190391
67	MP0002928_abnormal_bile_duct	0.98805580
68	MP0001293_anophthalmia	0.97971414
69	MP0000685_abnormal_immune_system	0.96747585
70	MP0002148_abnormal_hypersensitivity_rea	0.96668994
71	MP0005365_abnormal_bile_salt	0.94803147
72	MP0002420_abnormal_adaptive_immunity	0.93667863
73	MP0008789_abnormal_olfactory_epithelium	0.91291315
74	MP0005389_reproductive_system_phenotype	0.90839748
75	MP0000689_abnormal_spleen_morphology	0.89978174
76	MP0003567_abnormal_fetal_cardiomyocyte	0.88891887
77	MP0001348_abnormal_lacrimal_gland	0.88804373
78	MP0001819_abnormal_immune_cell	0.88400781
79	MP0002909_abnormal_adrenal_gland	0.86858434
80	MP0001919_abnormal_reproductive_system	0.86143599
81	MP0002722_abnormal_immune_system	0.83702475
82	MP0003866_abnormal_defecation	0.82428973
83	MP0002075_abnormal_coat/hair_pigmentati	0.81563758
84	MP0000015_abnormal_ear_pigmentation	0.80843339
85	MP0009785_altered_susceptibility_to	0.80842644
86	MP0003938_abnormal_ear_development	0.80147401
87	MP0001661_extended_life_span	0.79604443
88	MP0006082_CNS_inflammation	0.79103611
89	MP0001119_abnormal_female_reproductive	0.78143577
90	MP0005410_abnormal_fertilization	0.77987523
91	MP0004147_increased_porphyrin_level	0.77778298
92	MP0004742_abnormal_vestibular_system	0.76905287
93	MP0002234_abnormal_pharynx_morphology	0.75865231
94	MP0004957_abnormal_blastocyst_morpholog	0.75354870
95	MP0000653_abnormal_sex_gland	0.74713408
96	MP0003693_abnormal_embryo_hatching	0.73767649
97	MP0002396_abnormal_hematopoietic_system	0.73612655
98	MP0002452_abnormal_antigen_presenting	0.71276121
99	MP0003943_abnormal_hepatobiliary_system	0.67981591
100	MP0005025_abnormal_response_to	0.67912004

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoplasia of the fovea (HP:0007750)	6.72685829
2	Aplasia/Hypoplasia of the fovea (HP:0008060)	6.72685829
3	Stomatitis (HP:0010280)	6.35039515
4	Abnormality of the fovea (HP:0000493)	5.64512401
5	Aplasia/Hypoplasia of the macula (HP:0008059)	5.42226396
6	Aplasia/Hypoplasia affecting the retina (HP:0008061)	5.05393227
7	Congenital stationary night blindness (HP:0007642)	4.95850106
8	Unilateral renal agenesis (HP:0000122)	4.02411982
9	Fused cervical vertebrae (HP:0002949)	3.59804818
10	Bilateral microphthalmos (HP:0007633)	3.58986264
11	Decreased central vision (HP:0007663)	3.47367529
12	Congenital, generalized hypertrichosis (HP:0004540)	3.31979534
13	Renal cortical cysts (HP:0000803)	3.11640711
14	Male infertility (HP:0003251)	3.11530400
15	Muscle fibrillation (HP:0010546)	3.05581442
16	Increased CSF lactate (HP:0002490)	2.93380975
17	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.88400519
18	Increased hepatocellular lipid droplets (HP:0006565)	2.86896279
19	Mitochondrial inheritance (HP:0001427)	2.85685464
20	Abnormality of the distal phalanges of the toes (HP:0010182)	2.84315308
21	Adrenal hypoplasia (HP:0000835)	2.77539149
22	Lipid accumulation in hepatocytes (HP:0006561)	2.75582841
23	Tongue fasciculations (HP:0001308)	2.74219263
24	Hepatic necrosis (HP:0002605)	2.70754681
25	Pustule (HP:0200039)	2.64558220
26	Exertional dyspnea (HP:0002875)	2.60137923
27	True hermaphroditism (HP:0010459)	2.58188723
28	Agitation (HP:0000713)	2.57520925
29	Hepatocellular necrosis (HP:0001404)	2.53676786
30	IgG deficiency (HP:0004315)	2.48321149
31	Stillbirth (HP:0003826)	2.43254637
32	Hyperglycinemia (HP:0002154)	2.41810189
33	Acute encephalopathy (HP:0006846)	2.40994156
34	Disinhibition (HP:0000734)	2.37013264
35	Oral leukoplakia (HP:0002745)	2.35402971
36	Brittle hair (HP:0002299)	2.33462484
37	Increased IgM level (HP:0003496)	2.33371823
38	Abnormal spermatogenesis (HP:0008669)	2.32746846
39	Submucous cleft hard palate (HP:0000176)	2.27813622
40	Short tibia (HP:0005736)	2.27143018
41	Hyperglycinuria (HP:0003108)	2.26382516
42	Abnormality of T cell physiology (HP:0011840)	2.21519699
43	Pancreatic fibrosis (HP:0100732)	2.21194660
44	Pancreatic cysts (HP:0001737)	2.15739658
45	Renal Fanconi syndrome (HP:0001994)	2.14965162
46	Male pseudohermaphroditism (HP:0000037)	2.14243582
47	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.13755389
48	Methylmalonic acidemia (HP:0002912)	2.13346307
49	Recurrent bacterial skin infections (HP:0005406)	2.11886279
50	Abnormal rod and cone electroretinograms (HP:0008323)	2.10193043
51	Abnormality of T cells (HP:0002843)	2.09758024
52	Abnormality of T cell number (HP:0011839)	2.09442806
53	Ventricular fibrillation (HP:0001663)	2.09212905
54	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.05732361
55	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.03092646
56	Increased serum lactate (HP:0002151)	2.02432629
57	Aplastic anemia (HP:0001915)	1.99851341
58	Occipital encephalocele (HP:0002085)	1.99407882
59	Restlessness (HP:0000711)	1.99085978
60	Carpal bone hypoplasia (HP:0001498)	1.98094736
61	Lactic acidosis (HP:0003128)	1.97990779
62	Myositis (HP:0100614)	1.97852491
63	Acute necrotizing encephalopathy (HP:0006965)	1.96470739
64	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.95779217
65	Abnormality of the renal cortex (HP:0011035)	1.94672608
66	Aplasia/hypoplasia of the uterus (HP:0008684)	1.92795489
67	Increased intramyocellular lipid droplets (HP:0012240)	1.91050462
68	T lymphocytopenia (HP:0005403)	1.90990368
69	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.90750560
70	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.90318028
71	Generalized aminoaciduria (HP:0002909)	1.89163753
72	Metaphyseal dysplasia (HP:0100255)	1.88235726
73	Median cleft lip (HP:0000161)	1.86057975
74	Glucose intolerance (HP:0000833)	1.81794890
75	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.81359275
76	Gastrointestinal infarctions (HP:0005244)	1.77534639
77	Type 2 muscle fiber atrophy (HP:0003554)	1.76511919
78	Cerebral edema (HP:0002181)	1.76144593
79	Methylmalonic aciduria (HP:0012120)	1.75827620
80	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.74806341
81	Neutropenia (HP:0001875)	1.74700389
82	Palpitations (HP:0001962)	1.74632603
83	Supernumerary spleens (HP:0009799)	1.74474497
84	Large for gestational age (HP:0001520)	1.72666345
85	Abnormal platelet function (HP:0011869)	1.71915460
86	Impaired platelet aggregation (HP:0003540)	1.71915460
87	Abnormality of serum amino acid levels (HP:0003112)	1.70859871
88	Recurrent abscess formation (HP:0002722)	1.70146368
89	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.67567003
90	Abnormality of methionine metabolism (HP:0010901)	1.67282309
91	Respiratory difficulties (HP:0002880)	1.66419829
92	Abnormality of homocysteine metabolism (HP:0010919)	1.63533540
93	Homocystinuria (HP:0002156)	1.63533540
94	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.61638434
95	Muscle fiber atrophy (HP:0100295)	1.61253624
96	Reduced subcutaneous adipose tissue (HP:0003758)	1.61058754
97	Abnormality of the middle phalanges of the toes (HP:0010183)	1.61010642
98	Hyperinsulinemic hypoglycemia (HP:0000825)	1.60386232
99	Increased muscle lipid content (HP:0009058)	1.60131091
100	Abnormality of glycine metabolism (HP:0010895)	1.59374610

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EIF2AK1	5.47853437
2	EIF2AK3	4.06379063
3	STK16	3.78939506
4	BLK	2.78347598
5	STK39	2.72249954
6	NUAK1	2.72184975
7	BUB1	2.71713593
8	PLK2	2.56503899
9	ACVR1B	2.18271764
10	MKNK2	2.17885240
11	BCKDK	2.17749175
12	VRK2	2.16143184
13	SRPK1	1.98220370
14	TESK2	1.94091556
15	GRK7	1.84084627
16	DAPK2	1.68134832
17	TAOK1	1.67215287
18	BMPR2	1.61084196
19	OXSR1	1.57672547
20	EIF2AK2	1.55224735
21	TGFBR2	1.54102638
22	NEK1	1.52335086
23	PDK2	1.48182155
24	ZAK	1.42804621
25	GRK5	1.40015966
26	BCR	1.36471875
27	ADRBK2	1.28991508
28	MST4	1.25858197
29	TLK1	1.24154554
30	CSNK1G3	1.21182460
31	HIPK2	1.18777350
32	STK10	1.16869581
33	WNK4	1.16811074
34	TRIM28	1.13324480
35	TAOK3	1.10897434
36	VRK1	1.09191567
37	MKNK1	1.07410382
38	IKBKE	1.05492467
39	GRK6	1.02602524
40	DYRK3	0.95087883
41	PLK3	0.95087824
42	CSNK1G1	0.93656890
43	WNK3	0.92778587
44	RPS6KA4	0.92079909
45	PIK3CA	0.90678709
46	ERBB3	0.89770407
47	IKBKB	0.88373506
48	TXK	0.87111970
49	SYK	0.86681798
50	PLK4	0.85271183
51	INSRR	0.84420732
52	CSNK1A1L	0.83224657
53	NEK2	0.82182376
54	PINK1	0.78153048
55	TESK1	0.76283893
56	LYN	0.73827199
57	CSNK1G2	0.70242036
58	PAK4	0.70080162
59	WNK1	0.68721292
60	MAP3K2	0.66621078
61	RPS6KA5	0.63727025
62	JAK3	0.63713373
63	GRK1	0.63471890
64	PHKG1	0.63277323
65	PHKG2	0.63277323
66	CLK1	0.61348295
67	RAF1	0.61191577
68	PAK3	0.60557128
69	CDC7	0.58692014
70	STK4	0.58096219
71	DAPK1	0.55858996
72	PRKCQ	0.51052068
73	KDR	0.50493456
74	MAP4K2	0.49798412
75	PASK	0.49211213
76	CCNB1	0.48974059
77	ADRBK1	0.47706088
78	BMPR1B	0.46279522
79	EPHA4	0.45406785
80	DAPK3	0.45351436
81	CHUK	0.43816321
82	ITK	0.42625994
83	MAP4K1	0.42402827
84	LCK	0.41912739
85	PLK1	0.41008355
86	JAK2	0.37217080
87	TSSK6	0.36077707
88	AURKB	0.34923741
89	CDK6	0.34818338
90	MAPKAPK2	0.34732554
91	ERBB2	0.34428925
92	SIK3	0.34036747
93	PRKCG	0.29596800
94	CSNK1A1	0.28893505
95	CSNK2A2	0.27836138
96	PAK6	0.27797237
97	PIM1	0.27757366
98	FRK	0.27350761
99	FGR	0.26358109
100	CSNK2A1	0.24657163

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	4.34809622
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.20753559
3	Vitamin B6 metabolism_Homo sapiens_hsa00750	3.01382946
4	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.78444886
5	Parkinsons disease_Homo sapiens_hsa05012	2.73996664
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.73382869
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.50121826
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.39269591
9	RNA polymerase_Homo sapiens_hsa03020	2.30957077
10	Propanoate metabolism_Homo sapiens_hsa00640	2.16362761
11	Basal transcription factors_Homo sapiens_hsa03022	2.13873928
12	Allograft rejection_Homo sapiens_hsa05330	2.07781651
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.06329659
14	Protein export_Homo sapiens_hsa03060	1.90804013
15	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.89465625
16	Spliceosome_Homo sapiens_hsa03040	1.86347954
17	Alzheimers disease_Homo sapiens_hsa05010	1.76057964
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.70314267
19	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.67666395
20	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.67236646
21	RNA transport_Homo sapiens_hsa03013	1.66046297
22	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.64335521
23	RNA degradation_Homo sapiens_hsa03018	1.60341401
24	Primary immunodeficiency_Homo sapiens_hsa05340	1.57754383
25	Malaria_Homo sapiens_hsa05144	1.57485755
26	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.54956343
27	Huntingtons disease_Homo sapiens_hsa05016	1.53865740
28	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	1.51826238
29	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.45179701
30	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.44597913
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.44180515
32	Butanoate metabolism_Homo sapiens_hsa00650	1.42841066
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.42803941
34	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.37546686
35	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.33309583
36	Graft-versus-host disease_Homo sapiens_hsa05332	1.31677640
37	Ribosome_Homo sapiens_hsa03010	1.29462909
38	Rheumatoid arthritis_Homo sapiens_hsa05323	1.25033113
39	Phototransduction_Homo sapiens_hsa04744	1.16839102
40	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.10258578
41	Asthma_Homo sapiens_hsa05310	1.09112044
42	Linoleic acid metabolism_Homo sapiens_hsa00591	1.08101678
43	Steroid biosynthesis_Homo sapiens_hsa00100	1.05400913
44	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.01467294
45	Purine metabolism_Homo sapiens_hsa00230	0.96960272
46	Pyrimidine metabolism_Homo sapiens_hsa00240	0.91862330
47	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.91786957
48	beta-Alanine metabolism_Homo sapiens_hsa00410	0.86307950
49	Homologous recombination_Homo sapiens_hsa03440	0.83270093
50	Type I diabetes mellitus_Homo sapiens_hsa04940	0.83018395
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.82334263
52	Non-homologous end-joining_Homo sapiens_hsa03450	0.80717792
53	mRNA surveillance pathway_Homo sapiens_hsa03015	0.77402004
54	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.77078334
55	Peroxisome_Homo sapiens_hsa04146	0.72646867
56	Salivary secretion_Homo sapiens_hsa04970	0.72463768
57	Cardiac muscle contraction_Homo sapiens_hsa04260	0.71933637
58	Olfactory transduction_Homo sapiens_hsa04740	0.71713051
59	Tryptophan metabolism_Homo sapiens_hsa00380	0.70234027
60	Measles_Homo sapiens_hsa05162	0.65508058
61	p53 signaling pathway_Homo sapiens_hsa04115	0.64610961
62	DNA replication_Homo sapiens_hsa03030	0.63017568
63	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.62274332
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.59640053
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.56026549
66	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.55679950
67	Metabolic pathways_Homo sapiens_hsa01100	0.55086589
68	Glycerolipid metabolism_Homo sapiens_hsa00561	0.54200149
69	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.54033321
70	Caffeine metabolism_Homo sapiens_hsa00232	0.51634067
71	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.51337639
72	Fatty acid elongation_Homo sapiens_hsa00062	0.49311475
73	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.47996501
74	Oocyte meiosis_Homo sapiens_hsa04114	0.47625290
75	Taste transduction_Homo sapiens_hsa04742	0.47211580
76	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.45730834
77	Antigen processing and presentation_Homo sapiens_hsa04612	0.45222207
78	Fanconi anemia pathway_Homo sapiens_hsa03460	0.45021921
79	One carbon pool by folate_Homo sapiens_hsa00670	0.44718623
80	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.44516013
81	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.43464349
82	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.42233935
83	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.39984954
84	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.38471549
85	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.38399047
86	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.35853452
87	Mineral absorption_Homo sapiens_hsa04978	0.34767283
88	Ether lipid metabolism_Homo sapiens_hsa00565	0.31294203
89	Legionellosis_Homo sapiens_hsa05134	0.31221245
90	Herpes simplex infection_Homo sapiens_hsa05168	0.30068889
91	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.28978970
92	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.28482988
93	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.27755209
94	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.26780986
95	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.26117841
96	Selenocompound metabolism_Homo sapiens_hsa00450	0.25949064
97	Chemical carcinogenesis_Homo sapiens_hsa05204	0.25399870
98	Vibrio cholerae infection_Homo sapiens_hsa05110	0.24973830
99	Pyruvate metabolism_Homo sapiens_hsa00620	0.24273000
100	Chemokine signaling pathway_Homo sapiens_hsa04062	0.23511098

UBE2D3P1

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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