ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	viral transcription (GO:0019083)	8.45903365
2	translational termination (GO:0006415)	8.06446374
3	ribosomal small subunit assembly (GO:0000028)	7.84838310
4	maturation of SSU-rRNA (GO:0030490)	7.75595907
5	translational elongation (GO:0006414)	7.31061384
6	ribosomal small subunit biogenesis (GO:0042274)	7.17946236
7	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	6.74293830
8	cotranslational protein targeting to membrane (GO:0006613)	6.62067319
9	protein targeting to ER (GO:0045047)	6.57871766
10	nucleotide salvage (GO:0043173)	6.40901272
11	establishment of protein localization to endoplasmic reticulum (GO:0072599)	6.28943096
12	cellular protein complex disassembly (GO:0043624)	6.18794777
13	protein localization to endoplasmic reticulum (GO:0070972)	6.16032931
14	viral life cycle (GO:0019058)	6.01056664
15	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	5.90151460
16	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	5.70635729
17	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	5.70635729
18	translational initiation (GO:0006413)	5.58897637
19	nucleoside salvage (GO:0043174)	5.39195030
20	protein complex disassembly (GO:0043241)	5.27411103
21	CTP metabolic process (GO:0046036)	5.26956975
22	CTP biosynthetic process (GO:0006241)	5.26956975
23	purine nucleotide salvage (GO:0032261)	5.24017457
24	ribosomal large subunit biogenesis (GO:0042273)	5.08817926
25	macromolecular complex disassembly (GO:0032984)	4.98201698
26	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	4.93570129
27	translation (GO:0006412)	4.90026549
28	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.87948131
29	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.87948131
30	NADH dehydrogenase complex assembly (GO:0010257)	4.87948131
31	ATP synthesis coupled proton transport (GO:0015986)	4.81802634
32	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.81802634
33	chaperone-mediated protein transport (GO:0072321)	4.74240544
34	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	4.74157805
35	ribonucleoprotein complex biogenesis (GO:0022613)	4.70908334
36	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	4.63573893
37	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	4.58098430
38	protein complex biogenesis (GO:0070271)	4.52943414
39	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.47574058
40	cellular component biogenesis (GO:0044085)	4.37317766
41	mitochondrial respiratory chain complex assembly (GO:0033108)	4.34664745
42	protein targeting to membrane (GO:0006612)	4.31982168
43	pyrimidine-containing compound salvage (GO:0008655)	4.26068272
44	pyrimidine nucleoside salvage (GO:0043097)	4.26068272
45	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.22002152
46	protein neddylation (GO:0045116)	4.18209702
47	pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)	4.17534637
48	pyrimidine nucleoside monophosphate metabolic process (GO:0009129)	4.16540738
49	nuclear-transcribed mRNA catabolic process (GO:0000956)	4.10378076
50	pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)	4.02090918
51	UMP biosynthetic process (GO:0006222)	4.02090918
52	pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)	4.02090918
53	UMP metabolic process (GO:0046049)	4.02090918
54	mRNA catabolic process (GO:0006402)	3.85082956
55	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.83390318
56	GTP biosynthetic process (GO:0006183)	3.78817642
57	ribosome biogenesis (GO:0042254)	3.78290429
58	rRNA processing (GO:0006364)	3.68185097
59	ribonucleoside triphosphate biosynthetic process (GO:0009201)	3.66588245
60	pyrimidine ribonucleoside biosynthetic process (GO:0046132)	3.57163663
61	rRNA metabolic process (GO:0016072)	3.57126516
62	RNA catabolic process (GO:0006401)	3.52975051
63	respiratory electron transport chain (GO:0022904)	3.47143650
64	electron transport chain (GO:0022900)	3.44046509
65	UTP biosynthetic process (GO:0006228)	3.43985035
66	skeletal muscle tissue regeneration (GO:0043403)	3.40707961
67	pyrimidine nucleotide catabolic process (GO:0006244)	3.38888675
68	pyrimidine ribonucleotide biosynthetic process (GO:0009220)	3.36682166
69	response to gravity (GO:0009629)	3.33989096
70	protein targeting to mitochondrion (GO:0006626)	3.29532175
71	pyrimidine nucleotide biosynthetic process (GO:0006221)	3.25942858
72	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.25466317
73	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.23809822
74	DNA deamination (GO:0045006)	3.19275890
75	nucleoside triphosphate biosynthetic process (GO:0009142)	3.18446841
76	guanosine-containing compound biosynthetic process (GO:1901070)	3.15919349
77	UTP metabolic process (GO:0046051)	3.13960507
78	water-soluble vitamin biosynthetic process (GO:0042364)	3.13753191
79	tRNA processing (GO:0008033)	3.08474329
80	ATP biosynthetic process (GO:0006754)	3.06438931
81	muscle atrophy (GO:0014889)	3.06366323
82	RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	2.99272740
83	pyrimidine ribonucleotide metabolic process (GO:0009218)	2.98262815
84	regulation of skeletal muscle contraction (GO:0014819)	2.97816364
85	protein localization to mitochondrion (GO:0070585)	2.96026080
86	establishment of protein localization to mitochondrion (GO:0072655)	2.95320282
87	behavioral response to nicotine (GO:0035095)	2.92282719
88	termination of RNA polymerase III transcription (GO:0006386)	2.92235285
89	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.92235285
90	kinetochore assembly (GO:0051382)	2.90465964
91	pyrimidine nucleoside biosynthetic process (GO:0046134)	2.90032079
92	protein targeting (GO:0006605)	2.89142375
93	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.88871671
94	pyrimidine nucleotide metabolic process (GO:0006220)	2.88870547
95	peptidyl-histidine modification (GO:0018202)	2.86986486
96	ncRNA processing (GO:0034470)	2.86901467
97	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.85082588
98	proteasome assembly (GO:0043248)	2.84648135
99	tRNA modification (GO:0006400)	2.82845456
100	establishment of protein localization to membrane (GO:0090150)	2.81870666

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	5.35887473
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.95201488
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.89381354
4	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.65998819
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.42068994
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.11240359
7	VDR_22108803_ChIP-Seq_LS180_Human	3.10465351
8	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.10013896
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.07667672
10	EZH2_22144423_ChIP-Seq_EOC_Human	3.01507812
11	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.87933712
12	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.82767174
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.71964991
14	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.68990393
15	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.61518235
16	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.49007677
17	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.37327491
18	XRN2_22483619_ChIP-Seq_HELA_Human	2.22478582
19	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.17945095
20	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.14514551
21	TTF2_22483619_ChIP-Seq_HELA_Human	2.09848692
22	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.05998199
23	FOXP3_21729870_ChIP-Seq_TREG_Human	1.97659043
24	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.93944241
25	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.93864550
26	VDR_23849224_ChIP-Seq_CD4+_Human	1.91639370
27	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.91598017
28	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.89281874
29	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.84768486
30	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.83664266
31	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.78983276
32	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.72115259
33	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.63636879
34	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.62802753
35	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.61956341
36	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.58782687
37	GABP_19822575_ChIP-Seq_HepG2_Human	1.56242815
38	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.55418306
39	ELK1_19687146_ChIP-ChIP_HELA_Human	1.53272459
40	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.48157314
41	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.48139393
42	TP53_22573176_ChIP-Seq_HFKS_Human	1.46398090
43	MYC_18940864_ChIP-ChIP_HL60_Human	1.45740988
44	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.45681846
45	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.45169813
46	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44095769
47	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.42884530
48	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.42411132
49	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.33407609
50	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.31990678
51	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.27505980
52	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.26520408
53	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.22356129
54	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16735126
55	DCP1A_22483619_ChIP-Seq_HELA_Human	1.16445878
56	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.13399008
57	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.13117738
58	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.12350654
59	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.12066575
60	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.11753564
61	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.10295224
62	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.10295224
63	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.10295224
64	TAF2_19829295_ChIP-Seq_ESCs_Human	1.09351231
65	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.08538230
66	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.07825698
67	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.07688115
68	EWS_26573619_Chip-Seq_HEK293_Human	1.04546708
69	FUS_26573619_Chip-Seq_HEK293_Human	1.04044809
70	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.00478662
71	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.00102926
72	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.99969127
73	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.99391909
74	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	0.97496683
75	CTCF_18555785_ChIP-Seq_MESCs_Mouse	0.97335603
76	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.96923058
77	NCOR_22424771_ChIP-Seq_293T_Human	0.96795286
78	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.96654704
79	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.95071618
80	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.92884048
81	FOXP1_21924763_ChIP-Seq_HESCs_Human	0.92693475
82	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.91588202
83	ERA_21632823_ChIP-Seq_H3396_Human	0.90896067
84	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.89853915
85	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.88647068
86	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.88022963
87	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.88022963
88	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.87946303
89	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.87145361
90	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.86887496
91	GATA3_21867929_ChIP-Seq_TH1_Mouse	0.86541178
92	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.86392271
93	NANOG_20526341_ChIP-Seq_ESCs_Human	0.83249993
94	BP1_19119308_ChIP-ChIP_Hs578T_Human	0.82360672
95	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.81246873
96	P53_21459846_ChIP-Seq_SAOS-2_Human	0.81152448
97	CTCF_20526341_ChIP-Seq_ESCs_Human	0.81018896
98	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.80506268
99	OCT4_18692474_ChIP-Seq_MEFs_Mouse	0.79760179
100	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.79270932

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	5.33734125
2	MP0006292_abnormal_olfactory_placode	4.11223896
3	MP0004145_abnormal_muscle_electrophysio	3.66636447
4	MP0002163_abnormal_gland_morphology	2.83502091
5	MP0005646_abnormal_pituitary_gland	2.79345796
6	MP0003806_abnormal_nucleotide_metabolis	2.56802971
7	MP0004885_abnormal_endolymph	2.45054415
8	MP0000049_abnormal_middle_ear	2.32521425
9	MP0002160_abnormal_reproductive_system	2.28407028
10	MP0004147_increased_porphyrin_level	2.23678398
11	MP0002095_abnormal_skin_pigmentation	2.13554627
12	MP0001348_abnormal_lacrimal_gland	2.11092691
13	MP0003646_muscle_fatigue	2.03381943
14	MP0005379_endocrine/exocrine_gland_phen	2.01918423
15	MP0004142_abnormal_muscle_tone	1.96971921
16	MP0002736_abnormal_nociception_after	1.96439244
17	MP0008872_abnormal_physiological_respon	1.92959495
18	MP0005360_urolithiasis	1.85720497
19	MP0002138_abnormal_hepatobiliary_system	1.78142465
20	MP0002938_white_spotting	1.77916457
21	MP0005389_reproductive_system_phenotype	1.76711513
22	MP0002102_abnormal_ear_morphology	1.73302286
23	MP0003693_abnormal_embryo_hatching	1.72762411
24	MP0005083_abnormal_biliary_tract	1.72584836
25	MP0001968_abnormal_touch/_nociception	1.71533869
26	MP0002234_abnormal_pharynx_morphology	1.65882974
27	MP0003786_premature_aging	1.65224942
28	MP0002837_dystrophic_cardiac_calcinosis	1.63191398
29	MP0005670_abnormal_white_adipose	1.60959610
30	MP0000631_abnormal_neuroendocrine_gland	1.57888199
31	MP0009250_abnormal_appendicular_skeleto	1.57196511
32	MP0001293_anophthalmia	1.55546598
33	MP0008875_abnormal_xenobiotic_pharmacok	1.48917209
34	MP0003186_abnormal_redox_activity	1.47920634
35	MP0003878_abnormal_ear_physiology	1.46983730
36	MP0005377_hearing/vestibular/ear_phenot	1.46983730
37	MP0001905_abnormal_dopamine_level	1.41216339
38	MP0006072_abnormal_retinal_apoptosis	1.37134991
39	MP0003123_paternal_imprinting	1.35551730
40	MP0002735_abnormal_chemical_nociception	1.35094956
41	MP0000747_muscle_weakness	1.31569245
42	MP0000678_abnormal_parathyroid_gland	1.30173378
43	MP0009053_abnormal_anal_canal	1.26981857
44	MP0003937_abnormal_limbs/digits/tail_de	1.21841090
45	MP0001919_abnormal_reproductive_system	1.19376421
46	MP0004036_abnormal_muscle_relaxation	1.17920840
47	MP0008789_abnormal_olfactory_epithelium	1.17258084
48	MP0001485_abnormal_pinna_reflex	1.11172912
49	MP0000372_irregular_coat_pigmentation	1.10147972
50	MP0002277_abnormal_respiratory_mucosa	1.08652079
51	MP0009745_abnormal_behavioral_response	1.08561984
52	MP0006036_abnormal_mitochondrial_physio	1.07864530
53	MP0005084_abnormal_gallbladder_morpholo	1.04489562
54	MP0001440_abnormal_grooming_behavior	1.00662012
55	MP0005645_abnormal_hypothalamus_physiol	0.99608529
56	MP0008058_abnormal_DNA_repair	0.98959493
57	MP0000750_abnormal_muscle_regeneration	0.97384278
58	MP0005551_abnormal_eye_electrophysiolog	0.96498744
59	MP0003942_abnormal_urinary_system	0.93398468
60	MP0002822_catalepsy	0.92263108
61	MP0002733_abnormal_thermal_nociception	0.92188543
62	MP0002638_abnormal_pupillary_reflex	0.91140976
63	MP0003880_abnormal_central_pattern	0.90985615
64	MP0002210_abnormal_sex_determination	0.90537605
65	MP0008995_early_reproductive_senescence	0.89879751
66	MP0000026_abnormal_inner_ear	0.89632887
67	MP0002272_abnormal_nervous_system	0.87764528
68	MP0002184_abnormal_innervation	0.86290730
69	MP0002269_muscular_atrophy	0.83479580
70	MP0000749_muscle_degeneration	0.82596209
71	MP0005636_abnormal_mineral_homeostasis	0.78221488
72	MP0003567_abnormal_fetal_cardiomyocyte	0.76761140
73	MP0002177_abnormal_outer_ear	0.74665355
74	MP0001529_abnormal_vocalization	0.74640583
75	MP0000759_abnormal_skeletal_muscle	0.74638681
76	MP0003938_abnormal_ear_development	0.72416173
77	MP0002752_abnormal_somatic_nervous	0.70786568
78	MP0003936_abnormal_reproductive_system	0.70672827
79	MP0004957_abnormal_blastocyst_morpholog	0.70235991
80	MP0002932_abnormal_joint_morphology	0.70133941
81	MP0005620_abnormal_muscle_contractility	0.69337593
82	MP0000470_abnormal_stomach_morphology	0.69007426
83	MP0003315_abnormal_perineum_morphology	0.67711419
84	MP0010030_abnormal_orbit_morphology	0.66999857
85	MP0001986_abnormal_taste_sensitivity	0.66620050
86	MP0000653_abnormal_sex_gland	0.66148726
87	MP0001963_abnormal_hearing_physiology	0.65927423
88	MP0001756_abnormal_urination	0.65451848
89	MP0005174_abnormal_tail_pigmentation	0.65380324
90	MP0004134_abnormal_chest_morphology	0.64966224
91	MP0000534_abnormal_ureter_morphology	0.64649981
92	MP0001970_abnormal_pain_threshold	0.64539039
93	MP0005195_abnormal_posterior_eye	0.64293088
94	MP0002089_abnormal_postnatal_growth/wei	0.62925820
95	MP0000613_abnormal_salivary_gland	0.62634975
96	MP0009765_abnormal_xenobiotic_induced	0.61981969
97	MP0005423_abnormal_somatic_nervous	0.61719487
98	MP0001145_abnormal_male_reproductive	0.60335629
99	MP0004742_abnormal_vestibular_system	0.60296234
100	MP0006276_abnormal_autonomic_nervous	0.59820806

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	5.10571939
2	Abnormal mitochondria in muscle tissue (HP:0008316)	4.59790715
3	Acute encephalopathy (HP:0006846)	4.28375254
4	Progressive macrocephaly (HP:0004481)	4.19630098
5	Mitochondrial inheritance (HP:0001427)	4.13696740
6	Reticulocytopenia (HP:0001896)	4.03946577
7	Abnormality of cells of the erythroid lineage (HP:0012130)	3.90446854
8	Macrocytic anemia (HP:0001972)	3.83100467
9	3-Methylglutaconic aciduria (HP:0003535)	3.66635409
10	Increased CSF lactate (HP:0002490)	3.58358103
11	Abnormal number of erythroid precursors (HP:0012131)	3.37655792
12	Pallor (HP:0000980)	3.37459422
13	Hepatocellular necrosis (HP:0001404)	3.24278780
14	Abnormality of alanine metabolism (HP:0010916)	3.23396637
15	Hyperalaninemia (HP:0003348)	3.23396637
16	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.23396637
17	Hepatic necrosis (HP:0002605)	3.03527971
18	Increased hepatocellular lipid droplets (HP:0006565)	2.92372204
19	Cerebral edema (HP:0002181)	2.90762244
20	Absent phalangeal crease (HP:0006109)	2.90455184
21	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.80454565
22	Symphalangism affecting the phalanges of the hand (HP:0009773)	2.76953937
23	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.70288691
24	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.68191396
25	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.68191396
26	Lipid accumulation in hepatocytes (HP:0006561)	2.65492935
27	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.62219620
28	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.54994013
29	Increased serum lactate (HP:0002151)	2.54680796
30	Renal Fanconi syndrome (HP:0001994)	2.50324767
31	Hypoplasia of the pons (HP:0012110)	2.49444192
32	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.49087314
33	Absent thumb (HP:0009777)	2.46622075
34	Pendular nystagmus (HP:0012043)	2.46466259
35	Hyperglycinemia (HP:0002154)	2.46198504
36	Exercise intolerance (HP:0003546)	2.42051703
37	Lactic acidosis (HP:0003128)	2.40754235
38	Abnormality of the 4th metacarpal (HP:0010012)	2.38664495
39	Maternal diabetes (HP:0009800)	2.35520167
40	Hypoplasia of the uterus (HP:0000013)	2.34179289
41	Congenital, generalized hypertrichosis (HP:0004540)	2.32135613
42	Abnormality of DNA repair (HP:0003254)	2.32022280
43	Exertional dyspnea (HP:0002875)	2.30306737
44	Abnormal finger flexion creases (HP:0006143)	2.29574059
45	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.25344490
46	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.23683852
47	Abnormal hemoglobin (HP:0011902)	2.23218593
48	Optic disc pallor (HP:0000543)	2.21938912
49	Type 2 muscle fiber atrophy (HP:0003554)	2.19658229
50	Constricted visual fields (HP:0001133)	2.19120919
51	Asplenia (HP:0001746)	2.17919313
52	Abnormality of the pons (HP:0007361)	2.17483619
53	Increased intramyocellular lipid droplets (HP:0012240)	2.16954252
54	Abnormality of the middle phalanges of the toes (HP:0010183)	2.16456298
55	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	2.15985473
56	Palpebral edema (HP:0100540)	2.15921050
57	Leukodystrophy (HP:0002415)	2.12161401
58	Progressive microcephaly (HP:0000253)	2.12067616
59	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	2.11408443
60	Hypoplasia of the radius (HP:0002984)	2.10131677
61	Muscle fiber atrophy (HP:0100295)	2.09762173
62	Respiratory failure (HP:0002878)	2.09662492
63	Pancreatic fibrosis (HP:0100732)	2.09432027
64	Pancreatic cysts (HP:0001737)	2.05008056
65	Calcaneovalgus deformity (HP:0001848)	2.04237912
66	Distal arthrogryposis (HP:0005684)	2.02413146
67	Deformed tarsal bones (HP:0008119)	2.01691116
68	Colon cancer (HP:0003003)	2.01351696
69	Opisthotonus (HP:0002179)	2.00959224
70	Aplasia/hypoplasia of the uterus (HP:0008684)	2.00527953
71	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.95961202
72	Supernumerary spleens (HP:0009799)	1.94046392
73	Anencephaly (HP:0002323)	1.93255715
74	Abnormal number of incisors (HP:0011064)	1.91547972
75	Congenital stationary night blindness (HP:0007642)	1.91395807
76	Adrenal hypoplasia (HP:0000835)	1.91124780
77	Abnormal rod and cone electroretinograms (HP:0008323)	1.90894986
78	Methylmalonic acidemia (HP:0002912)	1.90408380
79	Microretrognathia (HP:0000308)	1.90091552
80	Forearm undergrowth (HP:0009821)	1.89761506
81	Ulnar deviation of the wrist (HP:0003049)	1.88171246
82	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.87149345
83	Short femoral neck (HP:0100864)	1.85726771
84	Abnormal umbilical cord blood vessels (HP:0011403)	1.83895070
85	Single umbilical artery (HP:0001195)	1.83895070
86	Abnormality of the fetal cardiovascular system (HP:0010948)	1.83895070
87	Methylmalonic aciduria (HP:0012120)	1.82150550
88	Hypoplasia of the ulna (HP:0003022)	1.81851737
89	Degeneration of anterior horn cells (HP:0002398)	1.80576027
90	Abnormality of the anterior horn cell (HP:0006802)	1.80576027
91	Severe visual impairment (HP:0001141)	1.80186992
92	Abnormality of midbrain morphology (HP:0002418)	1.80176591
93	Molar tooth sign on MRI (HP:0002419)	1.80176591
94	Ectopic kidney (HP:0000086)	1.79988286
95	Conjunctival hamartoma (HP:0100780)	1.78887302
96	Paralysis (HP:0003470)	1.78407543
97	Lethargy (HP:0001254)	1.78372045
98	Poor suck (HP:0002033)	1.77945994
99	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.77235633
100	Triphalangeal thumb (HP:0001199)	1.76636563

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NME2	5.59004572
2	STK16	4.35988915
3	VRK2	3.41985915
4	LIMK1	3.12860528
5	MAP4K2	2.84386999
6	TIE1	2.53366114
7	TLK1	2.24598425
8	NUAK1	2.22650052
9	TAOK3	2.21730232
10	DYRK2	2.13182627
11	WNK4	2.12188799
12	ADRBK2	1.96685756
13	TAF1	1.95393244
14	EIF2AK1	1.85818439
15	PHKG2	1.72095399
16	PHKG1	1.72095399
17	ZAK	1.61906521
18	EPHB2	1.59801810
19	GRK1	1.57637703
20	OBSCN	1.48272894
21	PDK2	1.44666825
22	LRRK2	1.36729888
23	ABL2	1.36251247
24	BUB1	1.35055834
25	BCKDK	1.31487566
26	SMG1	1.26736444
27	CHEK2	1.21922869
28	VRK1	1.19182241
29	AURKA	1.18605376
30	MUSK	1.16754257
31	CAMKK2	1.13458052
32	CCNB1	1.12466559
33	BMPR1B	1.10155084
34	TRIM28	1.08102929
35	NTRK2	1.05096190
36	CDK9	1.04538485
37	PIK3CA	1.01348953
38	STK39	0.95677615
39	NEK1	0.95012780
40	WNK1	0.93054000
41	CDC7	0.91037065
42	CSNK1G1	0.89102611
43	CSNK2A2	0.87497835
44	CSNK2A1	0.84087841
45	CDK19	0.82984718
46	RPS6KA5	0.82962344
47	ADRBK1	0.80399671
48	JAK3	0.74295792
49	CDK8	0.73111046
50	SGK494	0.72037586
51	SGK223	0.72037586
52	CAMK1	0.71164152
53	CSNK1G3	0.70957885
54	TEC	0.69931720
55	RPS6KB2	0.67893467
56	IKBKB	0.67698728
57	CSNK1A1	0.67649635
58	PRKCG	0.67409492
59	FRK	0.66608658
60	DYRK1B	0.66343702
61	ILK	0.66289077
62	DAPK3	0.65086421
63	OXSR1	0.64136886
64	INSRR	0.63204184
65	PLK4	0.59194315
66	GRK5	0.56467236
67	NME1	0.56414995
68	CSNK1A1L	0.56406800
69	ATR	0.54869843
70	EIF2AK3	0.53821044
71	TESK1	0.53779470
72	PLK3	0.52376474
73	SGK2	0.51989390
74	MAPKAPK5	0.51752509
75	CDK7	0.49581761
76	TXK	0.49225412
77	PRKACA	0.48901035
78	PLK1	0.47744519
79	AURKB	0.47437376
80	DAPK1	0.46820414
81	CAMK1D	0.46331229
82	IRAK3	0.44931376
83	PRKCQ	0.44162991
84	PINK1	0.43882345
85	MAP4K1	0.42511912
86	CSNK1G2	0.41108357
87	PLK2	0.40416698
88	TESK2	0.40153829
89	MINK1	0.39468916
90	CAMK2G	0.39293133
91	DYRK3	0.39091839
92	TNIK	0.38026969
93	IKBKE	0.36142671
94	EIF2AK2	0.34885729
95	MYLK	0.33420030
96	PRKCA	0.32277428
97	MAP3K12	0.31234450
98	DYRK1A	0.30977570
99	MAP2K7	0.30871688
100	MAP3K11	0.30707396

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	7.73711984
2	Sulfur relay system_Homo sapiens_hsa04122	4.34715526
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.90752603
4	Parkinsons disease_Homo sapiens_hsa05012	3.29976633
5	Proteasome_Homo sapiens_hsa03050	2.56882636
6	One carbon pool by folate_Homo sapiens_hsa00670	2.52151866
7	Huntingtons disease_Homo sapiens_hsa05016	2.44102506
8	Alzheimers disease_Homo sapiens_hsa05010	2.35978806
9	RNA polymerase_Homo sapiens_hsa03020	2.29657411
10	Cardiac muscle contraction_Homo sapiens_hsa04260	2.14428128
11	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.10998938
12	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.07839425
13	Pyrimidine metabolism_Homo sapiens_hsa00240	1.85320518
14	Asthma_Homo sapiens_hsa05310	1.72553606
15	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.56078992
16	Protein export_Homo sapiens_hsa03060	1.55625180
17	DNA replication_Homo sapiens_hsa03030	1.54947984
18	Spliceosome_Homo sapiens_hsa03040	1.49732664
19	RNA degradation_Homo sapiens_hsa03018	1.48767667
20	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.39004386
21	Sulfur metabolism_Homo sapiens_hsa00920	1.37294186
22	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.33290766
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.31870227
24	Folate biosynthesis_Homo sapiens_hsa00790	1.20728357
25	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.20103109
26	Homologous recombination_Homo sapiens_hsa03440	1.17481329
27	RNA transport_Homo sapiens_hsa03013	1.16030128
28	Basal transcription factors_Homo sapiens_hsa03022	1.12640215
29	Base excision repair_Homo sapiens_hsa03410	1.12112913
30	Nucleotide excision repair_Homo sapiens_hsa03420	1.09631155
31	Purine metabolism_Homo sapiens_hsa00230	1.09105382
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.04904034
33	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.01947959
34	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.01761981
35	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.98248304
36	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.97952848
37	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.93897980
38	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.93029095
39	Nitrogen metabolism_Homo sapiens_hsa00910	0.88510029
40	Regulation of autophagy_Homo sapiens_hsa04140	0.86004909
41	Nicotine addiction_Homo sapiens_hsa05033	0.84143889
42	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.82584560
43	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.81894063
44	Morphine addiction_Homo sapiens_hsa05032	0.78271672
45	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.77091442
46	Metabolic pathways_Homo sapiens_hsa01100	0.74105818
47	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.72591541
48	Collecting duct acid secretion_Homo sapiens_hsa04966	0.68990691
49	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.66902594
50	Fat digestion and absorption_Homo sapiens_hsa04975	0.66895711
51	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.66100801
52	Allograft rejection_Homo sapiens_hsa05330	0.63505256
53	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.62507501
54	Linoleic acid metabolism_Homo sapiens_hsa00591	0.60519755
55	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.60407817
56	Arginine biosynthesis_Homo sapiens_hsa00220	0.60308705
57	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.59105415
58	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.56935096
59	Peroxisome_Homo sapiens_hsa04146	0.56901422
60	Retinol metabolism_Homo sapiens_hsa00830	0.56107680
61	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.54557897
62	Caffeine metabolism_Homo sapiens_hsa00232	0.54251101
63	Olfactory transduction_Homo sapiens_hsa04740	0.53759616
64	Phototransduction_Homo sapiens_hsa04744	0.50003177
65	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.49984430
66	Chemical carcinogenesis_Homo sapiens_hsa05204	0.47978088
67	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.44828841
68	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.43204077
69	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.42587647
70	Basal cell carcinoma_Homo sapiens_hsa05217	0.42383204
71	GABAergic synapse_Homo sapiens_hsa04727	0.37817525
72	Pentose phosphate pathway_Homo sapiens_hsa00030	0.37270015
73	Tryptophan metabolism_Homo sapiens_hsa00380	0.36954074
74	Primary immunodeficiency_Homo sapiens_hsa05340	0.36238656
75	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.35506837
76	Mismatch repair_Homo sapiens_hsa03430	0.35488021
77	Serotonergic synapse_Homo sapiens_hsa04726	0.35414583
78	Glutathione metabolism_Homo sapiens_hsa00480	0.34575308
79	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.31427187
80	Butanoate metabolism_Homo sapiens_hsa00650	0.30440263
81	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.29520624
82	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.29169878
83	Rheumatoid arthritis_Homo sapiens_hsa05323	0.28463163
84	mRNA surveillance pathway_Homo sapiens_hsa03015	0.26835235
85	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.25710537
86	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.25473082
87	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.24469597
88	p53 signaling pathway_Homo sapiens_hsa04115	0.24250920
89	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.23970548
90	Tight junction_Homo sapiens_hsa04530	0.21414165
91	Taste transduction_Homo sapiens_hsa04742	0.20918949
92	Graft-versus-host disease_Homo sapiens_hsa05332	0.19736816
93	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.19369071
94	Arginine and proline metabolism_Homo sapiens_hsa00330	0.19336092
95	Salivary secretion_Homo sapiens_hsa04970	0.18589093
96	Ether lipid metabolism_Homo sapiens_hsa00565	0.18564042
97	Carbon metabolism_Homo sapiens_hsa01200	0.18048409
98	Type I diabetes mellitus_Homo sapiens_hsa04940	0.16312021
99	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.16004084
100	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.15386276

EEF1B2P2

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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