ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein neddylation (GO:0045116)	7.23807063
2	GTP biosynthetic process (GO:0006183)	6.82588030
3	UTP biosynthetic process (GO:0006228)	5.82822479
4	UTP metabolic process (GO:0046051)	5.35163220
5	chaperone-mediated protein transport (GO:0072321)	5.00574432
6	behavioral response to nicotine (GO:0035095)	4.99064619
7	DNA deamination (GO:0045006)	4.92141553
8	CTP biosynthetic process (GO:0006241)	4.27337494
9	CTP metabolic process (GO:0046036)	4.27337494
10	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.21900719
11	ATP synthesis coupled proton transport (GO:0015986)	4.21900719
12	nucleoside diphosphate phosphorylation (GO:0006165)	4.17948708
13	protein targeting to Golgi (GO:0000042)	4.06689878
14	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.03463232
15	regulation of Golgi to plasma membrane protein transport (GO:0042996)	3.98283713
16	intraciliary transport (GO:0042073)	3.96604322
17	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.88358859
18	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.87438235
19	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.87438235
20	NADH dehydrogenase complex assembly (GO:0010257)	3.87438235
21	establishment of protein localization to Golgi (GO:0072600)	3.87404117
22	prenylation (GO:0097354)	3.83854114
23	protein prenylation (GO:0018342)	3.83854114
24	ribonucleoprotein complex disassembly (GO:0032988)	3.81490901
25	replication fork processing (GO:0031297)	3.77709742
26	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	3.77630115
27	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	3.75084564
28	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	3.69465181
29	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.67603953
30	guanosine-containing compound biosynthetic process (GO:1901070)	3.67068313
31	pyrimidine ribonucleoside biosynthetic process (GO:0046132)	3.66541589
32	N-glycan processing (GO:0006491)	3.62864349
33	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.60288160
34	cell proliferation in forebrain (GO:0021846)	3.58834256
35	tryptophan catabolic process (GO:0006569)	3.52321226
36	indole-containing compound catabolic process (GO:0042436)	3.52321226
37	indolalkylamine catabolic process (GO:0046218)	3.52321226
38	otic vesicle formation (GO:0030916)	3.50691721
39	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.50105304
40	negative regulation of establishment of protein localization to plasma membrane (GO:0090005)	3.48323285
41	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	3.45577164
42	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.44803341
43	pyrimidine ribonucleotide biosynthetic process (GO:0009220)	3.41586719
44	regulation of non-canonical Wnt signaling pathway (GO:2000050)	3.36382677
45	kynurenine metabolic process (GO:0070189)	3.36015817
46	regulation of relaxation of muscle (GO:1901077)	3.34393854
47	maturation of SSU-rRNA (GO:0030490)	3.34330063
48	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.25912225
49	pyrimidine nucleoside biosynthetic process (GO:0046134)	3.25519874
50	lateral ventricle development (GO:0021670)	3.24210075
51	retinal ganglion cell axon guidance (GO:0031290)	3.21955099
52	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.20778969
53	pyrimidine nucleotide biosynthetic process (GO:0006221)	3.20254857
54	left/right pattern formation (GO:0060972)	3.20203299
55	regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)	3.16478541
56	organelle disassembly (GO:1903008)	3.15005629
57	negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)	3.14557131
58	fucose catabolic process (GO:0019317)	3.13198319
59	L-fucose metabolic process (GO:0042354)	3.13198319
60	L-fucose catabolic process (GO:0042355)	3.13198319
61	pyrimidine ribonucleotide metabolic process (GO:0009218)	3.09507968
62	ubiquinone biosynthetic process (GO:0006744)	3.05482504
63	protein complex biogenesis (GO:0070271)	3.02020850
64	protein localization to Golgi apparatus (GO:0034067)	3.01318581
65	lysosome localization (GO:0032418)	2.98965425
66	protein insertion into membrane (GO:0051205)	2.97138314
67	platelet dense granule organization (GO:0060155)	2.95588043
68	neuron fate determination (GO:0048664)	2.95198319
69	indolalkylamine metabolic process (GO:0006586)	2.94973428
70	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.94173659
71	pyrimidine ribonucleoside metabolic process (GO:0046131)	2.93926667
72	pyrimidine nucleotide catabolic process (GO:0006244)	2.91978032
73	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.91880148
74	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	2.91006200
75	transmission of nerve impulse (GO:0019226)	2.90510377
76	epithelial cilium movement (GO:0003351)	2.89092851
77	pyrimidine-containing compound biosynthetic process (GO:0072528)	2.87603797
78	parturition (GO:0007567)	2.83430097
79	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.79819174
80	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.79819174
81	hydrogen ion transmembrane transport (GO:1902600)	2.77112876
82	anterograde synaptic vesicle transport (GO:0048490)	2.76683148
83	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.76204614
84	pyrimidine nucleotide metabolic process (GO:0006220)	2.74898929
85	tryptophan metabolic process (GO:0006568)	2.74866814
86	ribosome biogenesis (GO:0042254)	2.73646770
87	single strand break repair (GO:0000012)	2.73497815
88	ubiquinone metabolic process (GO:0006743)	2.72105580
89	mitochondrial respiratory chain complex assembly (GO:0033108)	2.70104360
90	pyrimidine nucleoside metabolic process (GO:0006213)	2.69619586
91	response to redox state (GO:0051775)	2.68711267
92	maturation of 5.8S rRNA (GO:0000460)	2.66876326
93	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.66343936
94	cornea development in camera-type eye (GO:0061303)	2.66338710
95	pyrimidine dimer repair (GO:0006290)	2.66336304
96	somite development (GO:0061053)	2.63349740
97	electron transport chain (GO:0022900)	2.63020757
98	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.62319593
99	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.62319593
100	axon ensheathment in central nervous system (GO:0032291)	2.60699535

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	5.92267757
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.46981966
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.19523589
4	VDR_22108803_ChIP-Seq_LS180_Human	3.13237937
5	IGF1R_20145208_ChIP-Seq_DFB_Human	3.04918648
6	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	2.83627801
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.73130186
8	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.69475445
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.67078313
10	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	2.24147723
11	GBX2_23144817_ChIP-Seq_PC3_Human	2.21208404
12	IRF1_19129219_ChIP-ChIP_H3396_Human	2.20827484
13	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.19545233
14	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.12232580
15	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.07484316
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.03192494
17	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.01729443
18	P300_19829295_ChIP-Seq_ESCs_Human	2.01054057
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.96327617
20	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.86584753
21	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.83982935
22	CBP_20019798_ChIP-Seq_JUKART_Human	1.78460948
23	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.78460948
24	TAF15_26573619_Chip-Seq_HEK293_Human	1.77791597
25	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.76796898
26	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.74029240
27	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.73639914
28	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.69080428
29	EWS_26573619_Chip-Seq_HEK293_Human	1.67944176
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.67800942
31	NANOG_19829295_ChIP-Seq_ESCs_Human	1.67432505
32	SOX2_19829295_ChIP-Seq_ESCs_Human	1.67432505
33	RNF2_27304074_Chip-Seq_NSC_Mouse	1.56284093
34	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.55020163
35	FUS_26573619_Chip-Seq_HEK293_Human	1.53572959
36	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.51812278
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.51582013
38	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.49347744
39	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.48465786
40	AR_25329375_ChIP-Seq_VCAP_Human	1.48096977
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.46286975
42	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.45038874
43	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.43940785
44	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.42503334
45	TP53_22573176_ChIP-Seq_HFKS_Human	1.40071331
46	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.39759549
47	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.37468739
48	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.35791964
49	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.35361324
50	NCOR_22424771_ChIP-Seq_293T_Human	1.33377640
51	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.31425915
52	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.31425915
53	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.30281405
54	MYC_19829295_ChIP-Seq_ESCs_Human	1.27794768
55	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.23317814
56	ELK1_19687146_ChIP-ChIP_HELA_Human	1.23228457
57	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.22074365
58	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.20155734
59	NANOG_20526341_ChIP-Seq_ESCs_Human	1.19855739
60	RUNX2_22187159_ChIP-Seq_PCA_Human	1.19406456
61	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.19009571
62	TCF4_22108803_ChIP-Seq_LS180_Human	1.16413539
63	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.16370506
64	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16333217
65	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.13933098
66	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.11354405
67	HOXB7_26014856_ChIP-Seq_BT474_Human	1.09873432
68	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.08655877
69	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.07737613
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.07165492
71	TCF4_23295773_ChIP-Seq_U87_Human	1.07051220
72	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.06401725
73	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.06144045
74	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.03207792
75	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.03169664
76	VDR_23849224_ChIP-Seq_CD4+_Human	1.02314630
77	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.02292072
78	FOXP3_21729870_ChIP-Seq_TREG_Human	1.00409330
79	CDX2_22108803_ChIP-Seq_LS180_Human	0.99297548
80	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.99264223
81	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.99175984
82	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.99132721
83	HTT_18923047_ChIP-ChIP_STHdh_Human	0.97286773
84	JUN_21703547_ChIP-Seq_K562_Human	0.96769174
85	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.96511611
86	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.96262981
87	STAT3_23295773_ChIP-Seq_U87_Human	0.95233213
88	AR_21572438_ChIP-Seq_LNCaP_Human	0.94762758
89	ER_23166858_ChIP-Seq_MCF-7_Human	0.94280118
90	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.93323454
91	SMAD4_21799915_ChIP-Seq_A2780_Human	0.92186088
92	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.91757863
93	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.91734437
94	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.91439510
95	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.91384921
96	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.89980831
97	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.89694355
98	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.88749021
99	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.88714011
100	REST_21632747_ChIP-Seq_MESCs_Mouse	0.88339614

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003122_maternal_imprinting	4.51605449
2	MP0003183_abnormal_peptide_metabolism	4.42280597
3	MP0006292_abnormal_olfactory_placode	4.19464978
4	MP0008877_abnormal_DNA_methylation	3.63567697
5	MP0003880_abnormal_central_pattern	3.62336306
6	MP0003787_abnormal_imprinting	3.55361187
7	MP0003121_genomic_imprinting	3.45873689
8	MP0002102_abnormal_ear_morphology	2.98112320
9	MP0009379_abnormal_foot_pigmentation	2.98074118
10	MP0002653_abnormal_ependyma_morphology	2.75961139
11	MP0006276_abnormal_autonomic_nervous	2.55554790
12	MP0004145_abnormal_muscle_electrophysio	2.27867385
13	MP0004742_abnormal_vestibular_system	2.10791214
14	MP0002837_dystrophic_cardiac_calcinosis	1.96909324
15	MP0002138_abnormal_hepatobiliary_system	1.92542496
16	MP0004142_abnormal_muscle_tone	1.92474062
17	MP0003186_abnormal_redox_activity	1.88974670
18	MP0000427_abnormal_hair_cycle	1.88433602
19	MP0009780_abnormal_chondrocyte_physiolo	1.88006928
20	MP0002938_white_spotting	1.85733829
21	MP0003011_delayed_dark_adaptation	1.75210799
22	MP0005551_abnormal_eye_electrophysiolog	1.74387247
23	MP0000566_synostosis	1.63284942
24	MP0001486_abnormal_startle_reflex	1.58701249
25	MP0004885_abnormal_endolymph	1.57604330
26	MP0002638_abnormal_pupillary_reflex	1.54457245
27	MP0001529_abnormal_vocalization	1.52497182
28	MP0008058_abnormal_DNA_repair	1.50505967
29	MP0001293_anophthalmia	1.45927995
30	MP0010030_abnormal_orbit_morphology	1.43384037
31	MP0003123_paternal_imprinting	1.42604603
32	MP0002272_abnormal_nervous_system	1.40057431
33	MP0003646_muscle_fatigue	1.38720755
34	MP0000778_abnormal_nervous_system	1.37756630
35	MP0001963_abnormal_hearing_physiology	1.37478994
36	MP0005377_hearing/vestibular/ear_phenot	1.36378280
37	MP0003878_abnormal_ear_physiology	1.36378280
38	MP0000049_abnormal_middle_ear	1.35946326
39	MP0004133_heterotaxia	1.34655690
40	MP0001986_abnormal_taste_sensitivity	1.31730798
41	MP0009745_abnormal_behavioral_response	1.29525399
42	MP0008872_abnormal_physiological_respon	1.26190284
43	MP0008789_abnormal_olfactory_epithelium	1.25186460
44	MP0002876_abnormal_thyroid_physiology	1.23511273
45	MP0001905_abnormal_dopamine_level	1.17499371
46	MP0001968_abnormal_touch/_nociception	1.17347484
47	MP0002160_abnormal_reproductive_system	1.16374933
48	MP0006072_abnormal_retinal_apoptosis	1.14824547
49	MP0005389_reproductive_system_phenotype	1.11658254
50	MP0002234_abnormal_pharynx_morphology	1.09075108
51	MP0001666_abnormal_nutrient_absorption	1.05229319
52	MP0000569_abnormal_digit_pigmentation	1.01666740
53	MP0003283_abnormal_digestive_organ	0.99563291
54	MP0000955_abnormal_spinal_cord	0.97483856
55	MP0005195_abnormal_posterior_eye	0.96931413
56	MP0003635_abnormal_synaptic_transmissio	0.96370691
57	MP0000428_abnormal_craniofacial_morphol	0.96069869
58	MP0008875_abnormal_xenobiotic_pharmacok	0.95913800
59	MP0001501_abnormal_sleep_pattern	0.95188553
60	MP0001919_abnormal_reproductive_system	0.94135144
61	MP0001440_abnormal_grooming_behavior	0.91999233
62	MP0001756_abnormal_urination	0.90765471
63	MP0005499_abnormal_olfactory_system	0.90617193
64	MP0005394_taste/olfaction_phenotype	0.90617193
65	MP0002752_abnormal_somatic_nervous	0.90340392
66	MP0002557_abnormal_social/conspecific_i	0.90208002
67	MP0008057_abnormal_DNA_replication	0.88709959
68	MP0002733_abnormal_thermal_nociception	0.84356799
69	MP0005253_abnormal_eye_physiology	0.83300873
70	MP0002184_abnormal_innervation	0.82073470
71	MP0004043_abnormal_pH_regulation	0.81664833
72	MP0003937_abnormal_limbs/digits/tail_de	0.79647386
73	MP0002233_abnormal_nose_morphology	0.79033100
74	MP0004019_abnormal_vitamin_homeostasis	0.78988802
75	MP0002928_abnormal_bile_duct	0.77506686
76	MP0000026_abnormal_inner_ear	0.76672262
77	MP0002751_abnormal_autonomic_nervous	0.74107270
78	MP0000383_abnormal_hair_follicle	0.73493726
79	MP0001485_abnormal_pinna_reflex	0.73086399
80	MP0001970_abnormal_pain_threshold	0.73019678
81	MP0005084_abnormal_gallbladder_morpholo	0.72826433
82	MP0005174_abnormal_tail_pigmentation	0.72343685
83	MP0002572_abnormal_emotion/affect_behav	0.71617301
84	MP0002282_abnormal_trachea_morphology	0.70466170
85	MP0002210_abnormal_sex_determination	0.70167209
86	MP0002736_abnormal_nociception_after	0.69680557
87	MP0003195_calcinosis	0.69348335
88	MP0002063_abnormal_learning/memory/cond	0.68939595
89	MP0002127_abnormal_cardiovascular_syste	0.68544076
90	MP0000013_abnormal_adipose_tissue	0.67487569
91	MP0002735_abnormal_chemical_nociception	0.67487312
92	MP0002067_abnormal_sensory_capabilities	0.65818724
93	MP0003119_abnormal_digestive_system	0.64779808
94	MP0009764_decreased_sensitivity_to	0.63793994
95	MP0008775_abnormal_heart_ventricle	0.62821796
96	MP0002109_abnormal_limb_morphology	0.62816102
97	MP0003786_premature_aging	0.62263718
98	MP0000653_abnormal_sex_gland	0.62124865
99	MP0002697_abnormal_eye_size	0.60266662
100	MP0005085_abnormal_gallbladder_physiolo	0.59937820

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the labia minora (HP:0012880)	4.53346298
2	Abnormality of the phalanges of the 2nd finger (HP:0009541)	4.11851745
3	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.89564968
4	Absent/shortened dynein arms (HP:0200106)	3.89564968
5	3-Methylglutaconic aciduria (HP:0003535)	3.75412066
6	Pancreatic fibrosis (HP:0100732)	3.69545413
7	Pancreatic cysts (HP:0001737)	3.59455015
8	True hermaphroditism (HP:0010459)	3.42528826
9	Abnormality of the ischium (HP:0003174)	3.25936800
10	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.19758193
11	Short tibia (HP:0005736)	3.09715743
12	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.05315628
13	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.05315628
14	Nephronophthisis (HP:0000090)	3.04646032
15	Intestinal atresia (HP:0011100)	3.03317837
16	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.92743028
17	Abnormality of the renal cortex (HP:0011035)	2.80102934
18	Abnormality of the renal medulla (HP:0100957)	2.78397410
19	Hypoplastic ischia (HP:0003175)	2.75391230
20	Abnormality of DNA repair (HP:0003254)	2.74930586
21	Reticulocytopenia (HP:0001896)	2.74487749
22	Type 2 muscle fiber atrophy (HP:0003554)	2.73668518
23	Cystic liver disease (HP:0006706)	2.66835266
24	Abnormal rod and cone electroretinograms (HP:0008323)	2.66487535
25	Molar tooth sign on MRI (HP:0002419)	2.64990569
26	Abnormality of midbrain morphology (HP:0002418)	2.64990569
27	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.62481930
28	Occipital encephalocele (HP:0002085)	2.59891823
29	Increased serum pyruvate (HP:0003542)	2.59566478
30	Sclerocornea (HP:0000647)	2.58746098
31	Abnormal respiratory epithelium morphology (HP:0012253)	2.58119240
32	Abnormal respiratory motile cilium morphology (HP:0005938)	2.58119240
33	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.57752378
34	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.53170677
35	Acute encephalopathy (HP:0006846)	2.52472911
36	Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)	2.48060741
37	Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)	2.41764947
38	Disproportionate short-trunk short stature (HP:0003521)	2.37246440
39	Pendular nystagmus (HP:0012043)	2.27206253
40	Medial flaring of the eyebrow (HP:0010747)	2.26565452
41	Hip dysplasia (HP:0001385)	2.24814568
42	Cerebellar dysplasia (HP:0007033)	2.24762195
43	Male pseudohermaphroditism (HP:0000037)	2.23506884
44	Anencephaly (HP:0002323)	2.21029301
45	Supernumerary spleens (HP:0009799)	2.20389337
46	Abnormality of alanine metabolism (HP:0010916)	2.19375458
47	Hyperalaninemia (HP:0003348)	2.19375458
48	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.19375458
49	Abnormal ciliary motility (HP:0012262)	2.19207831
50	Tubulointerstitial fibrosis (HP:0005576)	2.18587893
51	Keratoconus (HP:0000563)	2.18572252
52	Increased corneal curvature (HP:0100692)	2.18572252
53	Muscle fiber atrophy (HP:0100295)	2.17720623
54	Acute necrotizing encephalopathy (HP:0006965)	2.15083791
55	Abdominal situs inversus (HP:0003363)	2.12461345
56	Abnormality of abdominal situs (HP:0011620)	2.12461345
57	Abnormality of renal resorption (HP:0011038)	2.12176779
58	Abnormal hair whorl (HP:0010721)	2.12077900
59	Increased hepatocellular lipid droplets (HP:0006565)	2.11984520
60	Hypoplastic iliac wings (HP:0002866)	2.10165217
61	Increased CSF lactate (HP:0002490)	2.09600997
62	Optic disc pallor (HP:0000543)	2.08090203
63	Abnormality of the 2nd finger (HP:0004100)	2.04147747
64	Polyuria (HP:0000103)	2.04059715
65	Limb hypertonia (HP:0002509)	2.02374592
66	Mitochondrial inheritance (HP:0001427)	1.99730003
67	Postaxial foot polydactyly (HP:0001830)	1.99721992
68	Gastrointestinal atresia (HP:0002589)	1.98534521
69	Abnormal drinking behavior (HP:0030082)	1.95877436
70	Polydipsia (HP:0001959)	1.95877436
71	Aplasia cutis congenita (HP:0001057)	1.94118649
72	Decreased muscle mass (HP:0003199)	1.93930052
73	Abolished electroretinogram (ERG) (HP:0000550)	1.93619936
74	Lipid accumulation in hepatocytes (HP:0006561)	1.92641387
75	Tubulointerstitial abnormality (HP:0001969)	1.91737254
76	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.91405279
77	Hypomagnesemia (HP:0002917)	1.91061924
78	Poikiloderma (HP:0001029)	1.90749348
79	Pachygyria (HP:0001302)	1.89438267
80	Oligodactyly (hands) (HP:0001180)	1.89146711
81	Lissencephaly (HP:0001339)	1.88443898
82	Rib fusion (HP:0000902)	1.87077498
83	Furrowed tongue (HP:0000221)	1.86433925
84	Holoprosencephaly (HP:0001360)	1.85457664
85	Congenital hepatic fibrosis (HP:0002612)	1.82106690
86	Abnormality of glycolysis (HP:0004366)	1.80205241
87	Entropion (HP:0000621)	1.80166545
88	Abnormality of cells of the erythroid lineage (HP:0012130)	1.78450474
89	Congenital stationary night blindness (HP:0007642)	1.77515440
90	Abnormality of the anterior horn cell (HP:0006802)	1.77482864
91	Degeneration of anterior horn cells (HP:0002398)	1.77482864
92	Atrophy/Degeneration involving motor neurons (HP:0007373)	1.77396186
93	Forearm undergrowth (HP:0009821)	1.77363894
94	Hypoplasia of the ulna (HP:0003022)	1.77355727
95	Abnormality of renal excretion (HP:0011036)	1.76886157
96	Stenosis of the external auditory canal (HP:0000402)	1.76250800
97	Gait imbalance (HP:0002141)	1.75972355
98	Hypoplasia of the radius (HP:0002984)	1.75362002
99	Renal cortical cysts (HP:0000803)	1.74406061
100	Fibular hypoplasia (HP:0003038)	1.74021598

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK4	4.89563299
2	PINK1	4.43882142
3	MAP4K2	4.01930348
4	WNK3	3.62426225
5	DYRK3	2.72659086
6	EPHA4	2.66495778
7	STK16	2.40327348
8	TLK1	2.27421573
9	STK39	2.26864765
10	BMPR2	1.95233432
11	NTRK3	1.82988474
12	BMPR1B	1.79732420
13	FLT3	1.71479821
14	FRK	1.64652110
15	CDK8	1.64382131
16	BUB1	1.61114864
17	TRIM28	1.55802570
18	ACVR1B	1.53628732
19	RPS6KA4	1.48969038
20	TIE1	1.45065744
21	ERBB3	1.43719971
22	ADRBK2	1.43311359
23	VRK1	1.28166866
24	MKNK2	1.25870825
25	ZAK	1.19926787
26	GRK1	1.12728988
27	DYRK2	1.11833206
28	TAOK3	1.00539152
29	BCKDK	0.98251887
30	KIT	0.98118228
31	MAP3K13	0.95621430
32	TNK2	0.95606506
33	MAPK13	0.93832010
34	CAMK4	0.91598904
35	TRPM7	0.91429755
36	PLK2	0.90470056
37	MAP3K9	0.87596196
38	EPHB2	0.87269505
39	SRPK1	0.85959535
40	PLK3	0.83248096
41	MAP2K2	0.82271105
42	CAMK1	0.82190885
43	ALK	0.82156430
44	INSRR	0.80810193
45	SIK2	0.79744631
46	OXSR1	0.78110038
47	CAMKK2	0.77207493
48	WNK1	0.74188830
49	PIK3CG	0.73576323
50	GRK7	0.72293849
51	ADRBK1	0.72142093
52	MKNK1	0.71646741
53	ABL2	0.70668517
54	MAP3K4	0.70611983
55	PAK3	0.69248125
56	PIK3CA	0.66931742
57	SGK223	0.65193037
58	SGK494	0.65193037
59	GRK5	0.64935227
60	EIF2AK2	0.64350878
61	TGFBR1	0.61460652
62	MARK2	0.61452387
63	STK38L	0.60894108
64	RPS6KA5	0.60103362
65	OBSCN	0.57258614
66	PRKCZ	0.57058478
67	PRKCE	0.56487882
68	MINK1	0.56446074
69	VRK2	0.55328274
70	NUAK1	0.54145009
71	PRKACA	0.52788906
72	ATR	0.51634586
73	ERBB4	0.50852000
74	MAPK15	0.48946201
75	PRKCG	0.47247572
76	MARK1	0.47130635
77	BCR	0.44753876
78	CAMK2A	0.44434118
79	MAP3K11	0.43870522
80	MAP2K7	0.42271052
81	CSNK1A1	0.42094371
82	MAPK7	0.41030853
83	IKBKB	0.40186803
84	IGF1R	0.39200692
85	ATM	0.38890547
86	AURKB	0.38560264
87	SCYL2	0.38007292
88	CAMK2D	0.37332438
89	CHUK	0.36502888
90	CHEK2	0.35916694
91	RPS6KA6	0.35158837
92	DYRK1A	0.35053662
93	PRKCD	0.32737141
94	MYLK	0.32734224
95	HIPK2	0.32611825
96	ILK	0.32598476
97	SGK2	0.32485418
98	CSNK2A2	0.32193486
99	ABL1	0.31025471
100	PDK2	0.30919577

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.43622073
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.38837363
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.81496568
4	Parkinsons disease_Homo sapiens_hsa05012	2.73213718
5	Linoleic acid metabolism_Homo sapiens_hsa00591	2.73084911
6	Ribosome_Homo sapiens_hsa03010	2.50887143
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.43977072
8	Non-homologous end-joining_Homo sapiens_hsa03450	2.40298508
9	Fat digestion and absorption_Homo sapiens_hsa04975	2.26734531
10	Cardiac muscle contraction_Homo sapiens_hsa04260	2.22118180
11	Alzheimers disease_Homo sapiens_hsa05010	2.16790487
12	Propanoate metabolism_Homo sapiens_hsa00640	2.13608905
13	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.00298060
14	Tryptophan metabolism_Homo sapiens_hsa00380	1.97546548
15	Huntingtons disease_Homo sapiens_hsa05016	1.94443935
16	Ether lipid metabolism_Homo sapiens_hsa00565	1.88208421
17	Homologous recombination_Homo sapiens_hsa03440	1.86199858
18	RNA polymerase_Homo sapiens_hsa03020	1.70192976
19	Protein export_Homo sapiens_hsa03060	1.60706992
20	RNA degradation_Homo sapiens_hsa03018	1.58719712
21	Asthma_Homo sapiens_hsa05310	1.56573201
22	Basal transcription factors_Homo sapiens_hsa03022	1.46396086
23	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.45169210
24	Butanoate metabolism_Homo sapiens_hsa00650	1.41421995
25	Pyrimidine metabolism_Homo sapiens_hsa00240	1.41102034
26	Nucleotide excision repair_Homo sapiens_hsa03420	1.32491978
27	One carbon pool by folate_Homo sapiens_hsa00670	1.30372989
28	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.29472189
29	Phototransduction_Homo sapiens_hsa04744	1.26316044
30	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.23301567
31	Chemical carcinogenesis_Homo sapiens_hsa05204	1.18942106
32	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.18181687
33	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.15957028
34	Nitrogen metabolism_Homo sapiens_hsa00910	1.15781808
35	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.14563519
36	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.12515619
37	Serotonergic synapse_Homo sapiens_hsa04726	1.11470427
38	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.10418220
39	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.08682293
40	Steroid biosynthesis_Homo sapiens_hsa00100	1.06638395
41	Mismatch repair_Homo sapiens_hsa03430	1.06422869
42	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.03713052
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01838506
44	Fatty acid degradation_Homo sapiens_hsa00071	1.00509809
45	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.98787758
46	Nicotine addiction_Homo sapiens_hsa05033	0.96653304
47	Allograft rejection_Homo sapiens_hsa05330	0.96041071
48	Peroxisome_Homo sapiens_hsa04146	0.96012533
49	Fanconi anemia pathway_Homo sapiens_hsa03460	0.92761883
50	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.91676404
51	Olfactory transduction_Homo sapiens_hsa04740	0.90359481
52	Graft-versus-host disease_Homo sapiens_hsa05332	0.90148492
53	Taste transduction_Homo sapiens_hsa04742	0.87540570
54	Retinol metabolism_Homo sapiens_hsa00830	0.83703870
55	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.81581910
56	Pancreatic secretion_Homo sapiens_hsa04972	0.80359778
57	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.79563229
58	Type I diabetes mellitus_Homo sapiens_hsa04940	0.76845282
59	Morphine addiction_Homo sapiens_hsa05032	0.74514864
60	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.72636320
61	Metabolic pathways_Homo sapiens_hsa01100	0.70448776
62	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.70181486
63	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.70124793
64	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.68827017
65	Circadian entrainment_Homo sapiens_hsa04713	0.68638355
66	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.68130779
67	RNA transport_Homo sapiens_hsa03013	0.66449378
68	Glutathione metabolism_Homo sapiens_hsa00480	0.66284337
69	Proteasome_Homo sapiens_hsa03050	0.65023813
70	Antigen processing and presentation_Homo sapiens_hsa04612	0.64984995
71	Glutamatergic synapse_Homo sapiens_hsa04724	0.63503502
72	ABC transporters_Homo sapiens_hsa02010	0.62115892
73	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.60877246
74	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.60308188
75	Glycerolipid metabolism_Homo sapiens_hsa00561	0.58675348
76	Pyruvate metabolism_Homo sapiens_hsa00620	0.56228802
77	Fatty acid metabolism_Homo sapiens_hsa01212	0.55174376
78	DNA replication_Homo sapiens_hsa03030	0.54047821
79	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.53197388
80	Purine metabolism_Homo sapiens_hsa00230	0.51848346
81	Basal cell carcinoma_Homo sapiens_hsa05217	0.50975062
82	Dopaminergic synapse_Homo sapiens_hsa04728	0.50527903
83	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.50309791
84	Collecting duct acid secretion_Homo sapiens_hsa04966	0.50096509
85	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.48391462
86	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.47950512
87	Caffeine metabolism_Homo sapiens_hsa00232	0.47736597
88	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.46379105
89	Fatty acid elongation_Homo sapiens_hsa00062	0.45245736
90	beta-Alanine metabolism_Homo sapiens_hsa00410	0.43924628
91	African trypanosomiasis_Homo sapiens_hsa05143	0.43171881
92	Insulin secretion_Homo sapiens_hsa04911	0.41959034
93	Folate biosynthesis_Homo sapiens_hsa00790	0.40704211
94	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.36741048
95	p53 signaling pathway_Homo sapiens_hsa04115	0.36662263
96	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.36463505
97	Cholinergic synapse_Homo sapiens_hsa04725	0.35639623
98	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.34111609
99	Wnt signaling pathway_Homo sapiens_hsa04310	0.32854340
100	Long-term depression_Homo sapiens_hsa04730	0.32190623

EEF1B2P5

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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