ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.39175905
2	DNA deamination (GO:0045006)	4.66241973
3	protein complex biogenesis (GO:0070271)	4.05347700
4	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.03399180
5	NADH dehydrogenase complex assembly (GO:0010257)	4.03399180
6	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.03399180
7	respiratory chain complex IV assembly (GO:0008535)	3.95863502
8	mitochondrial respiratory chain complex assembly (GO:0033108)	3.92912382
9	pseudouridine synthesis (GO:0001522)	3.91796570
10	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.90275036
11	water-soluble vitamin biosynthetic process (GO:0042364)	3.80332744
12	negative regulation of telomere maintenance (GO:0032205)	3.62019294
13	cytochrome complex assembly (GO:0017004)	3.55876493
14	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.54415162
15	termination of RNA polymerase III transcription (GO:0006386)	3.54415162
16	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.46078580
17	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.43928113
18	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.40668911
19	piRNA metabolic process (GO:0034587)	3.40225832
20	protein-cofactor linkage (GO:0018065)	3.40224774
21	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.38138223
22	platelet dense granule organization (GO:0060155)	3.36689997
23	rRNA modification (GO:0000154)	3.33402903
24	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.32699404
25	fucose catabolic process (GO:0019317)	3.26361147
26	L-fucose metabolic process (GO:0042354)	3.26361147
27	L-fucose catabolic process (GO:0042355)	3.26361147
28	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.24339305
29	indole-containing compound catabolic process (GO:0042436)	3.23917364
30	indolalkylamine catabolic process (GO:0046218)	3.23917364
31	tryptophan catabolic process (GO:0006569)	3.23917364
32	indolalkylamine metabolic process (GO:0006586)	3.22054667
33	ATP synthesis coupled proton transport (GO:0015986)	3.21736045
34	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.21736045
35	tryptophan metabolic process (GO:0006568)	3.20552565
36	rRNA catabolic process (GO:0016075)	3.20392284
37	proteasome assembly (GO:0043248)	3.20077033
38	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.17465797
39	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.17465797
40	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.17374629
41	preassembly of GPI anchor in ER membrane (GO:0016254)	3.13366891
42	replication fork processing (GO:0031297)	3.10268180
43	tRNA processing (GO:0008033)	3.07970491
44	kynurenine metabolic process (GO:0070189)	3.07666364
45	mannosylation (GO:0097502)	3.06169371
46	mitochondrial RNA metabolic process (GO:0000959)	3.01985243
47	maturation of 5.8S rRNA (GO:0000460)	3.01849148
48	GTP biosynthetic process (GO:0006183)	2.98913252
49	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.98018722
50	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.97028223
51	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.97028223
52	electron transport chain (GO:0022900)	2.96600708
53	chaperone-mediated protein transport (GO:0072321)	2.94362309
54	respiratory electron transport chain (GO:0022904)	2.90625035
55	ubiquinone biosynthetic process (GO:0006744)	2.89410978
56	gamma-aminobutyric acid transport (GO:0015812)	2.87513648
57	rRNA methylation (GO:0031167)	2.85959792
58	recombinational repair (GO:0000725)	2.82571726
59	dopamine transport (GO:0015872)	2.82419113
60	double-strand break repair via homologous recombination (GO:0000724)	2.80767548
61	L-methionine salvage (GO:0071267)	2.79979455
62	L-methionine biosynthetic process (GO:0071265)	2.79979455
63	amino acid salvage (GO:0043102)	2.79979455
64	regulation of mitochondrial translation (GO:0070129)	2.78766760
65	protein K6-linked ubiquitination (GO:0085020)	2.77080601
66	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.76807076
67	tRNA modification (GO:0006400)	2.76762180
68	ncRNA catabolic process (GO:0034661)	2.74784211
69	DNA methylation involved in gamete generation (GO:0043046)	2.73572351
70	cullin deneddylation (GO:0010388)	2.73371559
71	intracellular protein transmembrane import (GO:0044743)	2.72653900
72	protein polyglutamylation (GO:0018095)	2.71882574
73	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.70497507
74	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.70497507
75	isotype switching (GO:0045190)	2.70497507
76	synaptic transmission, cholinergic (GO:0007271)	2.70396632
77	detection of light stimulus involved in visual perception (GO:0050908)	2.69211724
78	detection of light stimulus involved in sensory perception (GO:0050962)	2.69211724
79	iron-sulfur cluster assembly (GO:0016226)	2.67398988
80	metallo-sulfur cluster assembly (GO:0031163)	2.67398988
81	DNA demethylation (GO:0080111)	2.67235572
82	ubiquinone metabolic process (GO:0006743)	2.66811163
83	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.66009722
84	response to pheromone (GO:0019236)	2.65357896
85	DNA damage response, detection of DNA damage (GO:0042769)	2.63029995
86	base-excision repair, AP site formation (GO:0006285)	2.61742834
87	protein deneddylation (GO:0000338)	2.60608803
88	sulfation (GO:0051923)	2.58997039
89	peptidyl-histidine modification (GO:0018202)	2.58743550
90	protein neddylation (GO:0045116)	2.57217636
91	tRNA metabolic process (GO:0006399)	2.52920303
92	DNA double-strand break processing (GO:0000729)	2.52835988
93	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.51199358
94	oxidative demethylation (GO:0070989)	2.51150136
95	regulation of hexokinase activity (GO:1903299)	2.50892443
96	regulation of glucokinase activity (GO:0033131)	2.50892443
97	centriole replication (GO:0007099)	2.49719439
98	cellular ketone body metabolic process (GO:0046950)	2.47750287
99	positive regulation of prostaglandin secretion (GO:0032308)	2.47614390
100	GPI anchor metabolic process (GO:0006505)	2.46967985

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.81267147
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.75306956
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.58763343
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.50231229
5	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.24639605
6	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.03555957
7	VDR_22108803_ChIP-Seq_LS180_Human	2.90656457
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.70821907
9	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.69818882
10	* ETS1_20019798_ChIP-Seq_JURKAT_Human	2.55425201
11	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.51186956
12	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.32498166
13	EZH2_22144423_ChIP-Seq_EOC_Human	2.29503332
14	IGF1R_20145208_ChIP-Seq_DFB_Human	2.14433118
15	VDR_23849224_ChIP-Seq_CD4+_Human	2.10625025
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.02770628
17	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.97692430
18	MYC_18940864_ChIP-ChIP_HL60_Human	1.96161675
19	EWS_26573619_Chip-Seq_HEK293_Human	1.91383519
20	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.90436358
21	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.88385332
22	GBX2_23144817_ChIP-Seq_PC3_Human	1.87876546
23	FOXP3_21729870_ChIP-Seq_TREG_Human	1.82316845
24	ELK1_19687146_ChIP-ChIP_HELA_Human	1.78197469
25	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.74835027
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.68635091
27	IRF1_19129219_ChIP-ChIP_H3396_Human	1.68463598
28	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.64449046
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.64304152
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.61192919
31	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.61085969
32	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.60472290
33	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.57709630
34	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.55809894
35	FUS_26573619_Chip-Seq_HEK293_Human	1.54225198
36	P300_19829295_ChIP-Seq_ESCs_Human	1.52869652
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.51872618
38	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.48957888
39	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.46989305
40	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.46585347
41	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.45071170
42	TAF15_26573619_Chip-Seq_HEK293_Human	1.44679205
43	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.43780880
44	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.37619806
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.31912652
46	ER_23166858_ChIP-Seq_MCF-7_Human	1.29986065
47	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.28669737
48	* FOXA1_25329375_ChIP-Seq_VCAP_Human	1.28669737
49	NCOR_22424771_ChIP-Seq_293T_Human	1.26007928
50	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24109438
51	GABP_19822575_ChIP-Seq_HepG2_Human	1.23646400
52	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.23326429
53	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.20855408
54	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.18381730
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.16565900
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.16565900
57	CBP_20019798_ChIP-Seq_JUKART_Human	1.15653077
58	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.15653077
59	* GATA3_21878914_ChIP-Seq_MCF-7_Human	1.15060390
60	HOXB7_26014856_ChIP-Seq_BT474_Human	1.13872821
61	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.12904711
62	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.10031036
63	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.09792495
64	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.09518681
65	AR_20517297_ChIP-Seq_VCAP_Human	1.06919498
66	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05804090
67	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.05804090
68	TTF2_22483619_ChIP-Seq_HELA_Human	1.04990324
69	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.04843009
70	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.03821143
71	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.03653373
72	BCAT_22108803_ChIP-Seq_LS180_Human	1.02151436
73	NANOG_20526341_ChIP-Seq_ESCs_Human	1.01798499
74	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.01674693
75	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.00362190
76	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.99327527
77	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.99012436
78	MYC_18358816_ChIP-ChIP_MESCs_Mouse	0.97688068
79	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	0.97119357
80	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.95619635
81	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.94666323
82	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.94519026
83	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.93746543
84	MYC_19829295_ChIP-Seq_ESCs_Human	0.92975010
85	* ERA_21632823_ChIP-Seq_H3396_Human	0.92908655
86	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.92766274
87	AR_25329375_ChIP-Seq_VCAP_Human	0.91935047
88	TAF2_19829295_ChIP-Seq_ESCs_Human	0.91797790
89	HTT_18923047_ChIP-ChIP_STHdh_Human	0.91085445
90	KDM5A_27292631_Chip-Seq_BREAST_Human	0.90342107
91	TCF4_23295773_ChIP-Seq_U87_Human	0.89771342
92	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.89464624
93	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.89155771
94	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.89075395
95	STAT3_23295773_ChIP-Seq_U87_Human	0.87530168
96	* FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.86755843
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.85749134
98	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.85537740
99	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.84987645
100	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	0.84799313

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.32207748
2	MP0002736_abnormal_nociception_after	2.80215613
3	MP0001968_abnormal_touch/_nociception	2.70387418
4	MP0008058_abnormal_DNA_repair	2.68270884
5	MP0006292_abnormal_olfactory_placode	2.67456028
6	MP0003880_abnormal_central_pattern	2.55635560
7	MP0002102_abnormal_ear_morphology	2.51665649
8	MP0005551_abnormal_eye_electrophysiolog	2.23752436
9	MP0008872_abnormal_physiological_respon	2.21021331
10	MP0003718_maternal_effect	2.12321587
11	MP0002735_abnormal_chemical_nociception	2.08594631
12	MP0009046_muscle_twitch	2.01770166
13	MP0003195_calcinosis	2.00490559
14	MP0004147_increased_porphyrin_level	1.99480729
15	MP0005646_abnormal_pituitary_gland	1.88499063
16	MP0000372_irregular_coat_pigmentation	1.85655050
17	MP0008875_abnormal_xenobiotic_pharmacok	1.84457976
18	MP0003693_abnormal_embryo_hatching	1.83996799
19	MP0003787_abnormal_imprinting	1.83371062
20	MP0001986_abnormal_taste_sensitivity	1.80958622
21	MP0006072_abnormal_retinal_apoptosis	1.79396031
22	MP0004133_heterotaxia	1.77821290
23	MP0009745_abnormal_behavioral_response	1.75729508
24	MP0002837_dystrophic_cardiac_calcinosis	1.68281991
25	MP0003011_delayed_dark_adaptation	1.66475402
26	MP0001529_abnormal_vocalization	1.63351724
27	MP0006276_abnormal_autonomic_nervous	1.61203146
28	MP0004142_abnormal_muscle_tone	1.59979596
29	MP0002272_abnormal_nervous_system	1.57179338
30	MP0005423_abnormal_somatic_nervous	1.52048164
31	MP0005645_abnormal_hypothalamus_physiol	1.51959697
32	MP0005253_abnormal_eye_physiology	1.51645592
33	MP0002638_abnormal_pupillary_reflex	1.50885157
34	MP0000631_abnormal_neuroendocrine_gland	1.50453675
35	MP0003646_muscle_fatigue	1.49257906
36	MP0001485_abnormal_pinna_reflex	1.48359514
37	MP0001905_abnormal_dopamine_level	1.47490855
38	MP0004885_abnormal_endolymph	1.46555751
39	MP0000569_abnormal_digit_pigmentation	1.44237493
40	MP0002876_abnormal_thyroid_physiology	1.42424383
41	MP0010094_abnormal_chromosome_stability	1.41019225
42	MP0006035_abnormal_mitochondrial_morpho	1.36619365
43	MP0002938_white_spotting	1.36449735
44	MP0001486_abnormal_startle_reflex	1.31129851
45	MP0006036_abnormal_mitochondrial_physio	1.29349873
46	MP0002234_abnormal_pharynx_morphology	1.27479260
47	MP0003136_yellow_coat_color	1.26380004
48	MP0004043_abnormal_pH_regulation	1.26244222
49	MP0005075_abnormal_melanosome_morpholog	1.25828482
50	MP0002160_abnormal_reproductive_system	1.25781519
51	MP0001970_abnormal_pain_threshold	1.25584432
52	MP0002572_abnormal_emotion/affect_behav	1.25406306
53	MP0001501_abnormal_sleep_pattern	1.24957651
54	MP0003786_premature_aging	1.21862673
55	MP0002653_abnormal_ependyma_morphology	1.19647942
56	MP0005174_abnormal_tail_pigmentation	1.18441367
57	MP0002733_abnormal_thermal_nociception	1.17840821
58	MP0005389_reproductive_system_phenotype	1.17412296
59	MP0002064_seizures	1.16223369
60	MP0004742_abnormal_vestibular_system	1.13654031
61	MP0002734_abnormal_mechanical_nocicepti	1.11973628
62	MP0001764_abnormal_homeostasis	1.11025652
63	MP0002067_abnormal_sensory_capabilities	1.07708606
64	MP0005084_abnormal_gallbladder_morpholo	1.07323186
65	MP0002277_abnormal_respiratory_mucosa	1.06568059
66	MP0003890_abnormal_embryonic-extraembry	1.06458833
67	MP0002557_abnormal_social/conspecific_i	1.04628788
68	MP0004924_abnormal_behavior	1.02311235
69	MP0005386_behavior/neurological_phenoty	1.02311235
70	MP0003111_abnormal_nucleus_morphology	1.00495407
71	MP0010386_abnormal_urinary_bladder	0.99189040
72	MP0008789_abnormal_olfactory_epithelium	0.99006881
73	MP0001293_anophthalmia	0.97798389
74	MP0002210_abnormal_sex_determination	0.96766726
75	MP0003635_abnormal_synaptic_transmissio	0.95336657
76	MP0009697_abnormal_copulation	0.94079916
77	MP0002163_abnormal_gland_morphology	0.94039837
78	MP0003806_abnormal_nucleotide_metabolis	0.92127604
79	MP0000427_abnormal_hair_cycle	0.92027238
80	MP0002095_abnormal_skin_pigmentation	0.91741665
81	MP0008995_early_reproductive_senescence	0.91620422
82	MP0003119_abnormal_digestive_system	0.90541652
83	MP0001919_abnormal_reproductive_system	0.89915276
84	MP0001929_abnormal_gametogenesis	0.89759470
85	MP0005195_abnormal_posterior_eye	0.89106918
86	MP0009379_abnormal_foot_pigmentation	0.88758448
87	MP0003283_abnormal_digestive_organ	0.88380516
88	MP0000049_abnormal_middle_ear	0.87901295
89	MP0002138_abnormal_hepatobiliary_system	0.86938008
90	MP0005332_abnormal_amino_acid	0.86764441
91	MP0005410_abnormal_fertilization	0.86125716
92	MP0003186_abnormal_redox_activity	0.85661033
93	MP0003698_abnormal_male_reproductive	0.85341373
94	MP0003121_genomic_imprinting	0.84845763
95	MP0002063_abnormal_learning/memory/cond	0.83731537
96	MP0002928_abnormal_bile_duct	0.82627407
97	MP0000653_abnormal_sex_gland	0.82234065
98	MP0008007_abnormal_cellular_replicative	0.82000310
99	MP0001963_abnormal_hearing_physiology	0.80668035
100	MP0002752_abnormal_somatic_nervous	0.80190065

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.13718556
2	Abnormality of midbrain morphology (HP:0002418)	3.67333604
3	Molar tooth sign on MRI (HP:0002419)	3.67333604
4	Pancreatic fibrosis (HP:0100732)	3.59783076
5	Acute necrotizing encephalopathy (HP:0006965)	3.49283675
6	True hermaphroditism (HP:0010459)	3.35878513
7	Congenital stationary night blindness (HP:0007642)	3.29929604
8	Type II lissencephaly (HP:0007260)	3.21201127
9	Mitochondrial inheritance (HP:0001427)	3.17905402
10	Nephronophthisis (HP:0000090)	3.16893097
11	Abnormality of alanine metabolism (HP:0010916)	3.16568245
12	Hyperalaninemia (HP:0003348)	3.16568245
13	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.16568245
14	Acute encephalopathy (HP:0006846)	3.15663583
15	Increased CSF lactate (HP:0002490)	3.11824823
16	Abnormal mitochondria in muscle tissue (HP:0008316)	3.02907410
17	Progressive macrocephaly (HP:0004481)	2.96870932
18	Progressive inability to walk (HP:0002505)	2.89819727
19	Pendular nystagmus (HP:0012043)	2.85900766
20	Abolished electroretinogram (ERG) (HP:0000550)	2.81266497
21	Attenuation of retinal blood vessels (HP:0007843)	2.73888868
22	Inability to walk (HP:0002540)	2.72325859
23	Abnormality of the renal cortex (HP:0011035)	2.70025079
24	Abnormality of the renal medulla (HP:0100957)	2.68859383
25	Hepatocellular necrosis (HP:0001404)	2.58156672
26	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.53803043
27	Colon cancer (HP:0003003)	2.53592770
28	Cystic liver disease (HP:0006706)	2.46537201
29	Optic disc pallor (HP:0000543)	2.46274357
30	Lipid accumulation in hepatocytes (HP:0006561)	2.43433441
31	Birth length less than 3rd percentile (HP:0003561)	2.43257119
32	Hepatic necrosis (HP:0002605)	2.43018594
33	Methylmalonic acidemia (HP:0002912)	2.40001229
34	Increased serum lactate (HP:0002151)	2.36754025
35	Congenital, generalized hypertrichosis (HP:0004540)	2.35959689
36	Medial flaring of the eyebrow (HP:0010747)	2.34803763
37	Increased hepatocellular lipid droplets (HP:0006565)	2.34537247
38	Abnormality of the pons (HP:0007361)	2.32666737
39	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.30334664
40	Hypoplasia of the pons (HP:0012110)	2.30332806
41	3-Methylglutaconic aciduria (HP:0003535)	2.30197084
42	Sclerocornea (HP:0000647)	2.27282325
43	Abnormality of the labia minora (HP:0012880)	2.24750556
44	Limb dystonia (HP:0002451)	2.23964851
45	Chronic hepatic failure (HP:0100626)	2.19615269
46	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.16072845
47	Lissencephaly (HP:0001339)	2.15950077
48	Methylmalonic aciduria (HP:0012120)	2.15722550
49	Tubular atrophy (HP:0000092)	2.15015430
50	Anencephaly (HP:0002323)	2.14956774
51	Abnormal rod and cone electroretinograms (HP:0008323)	2.14056712
52	Renal Fanconi syndrome (HP:0001994)	2.12765020
53	Hyperglycinuria (HP:0003108)	2.12753764
54	Renal cortical cysts (HP:0000803)	2.07875005
55	Short tibia (HP:0005736)	2.06107938
56	Abnormal biliary tract physiology (HP:0012439)	2.04602767
57	Bile duct proliferation (HP:0001408)	2.04602767
58	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.04439791
59	Lactic acidosis (HP:0003128)	2.03985243
60	Increased corneal curvature (HP:0100692)	2.03247495
61	Keratoconus (HP:0000563)	2.03247495
62	Abnormal drinking behavior (HP:0030082)	2.03168298
63	Polydipsia (HP:0001959)	2.03168298
64	Aplasia/Hypoplasia of the patella (HP:0006498)	2.00055385
65	Decreased central vision (HP:0007663)	1.99452985
66	Cerebellar dysplasia (HP:0007033)	1.99108900
67	Patellar aplasia (HP:0006443)	1.98847314
68	Abnormal number of erythroid precursors (HP:0012131)	1.98289177
69	Cerebral edema (HP:0002181)	1.95719418
70	Chorioretinal atrophy (HP:0000533)	1.94535173
71	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.91887719
72	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.89736394
73	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.87586870
74	Furrowed tongue (HP:0000221)	1.87430395
75	Constricted visual fields (HP:0001133)	1.87272649
76	Hypoplasia of the fovea (HP:0007750)	1.84872112
77	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.84872112
78	Abnormality of the ileum (HP:0001549)	1.84819952
79	Meckel diverticulum (HP:0002245)	1.84631540
80	Optic nerve hypoplasia (HP:0000609)	1.83588225
81	Lethargy (HP:0001254)	1.82035509
82	Retinal dysplasia (HP:0007973)	1.82035333
83	Fibular aplasia (HP:0002990)	1.81837787
84	Hyperglycinemia (HP:0002154)	1.81371261
85	Stomach cancer (HP:0012126)	1.81196874
86	Abnormality of glycine metabolism (HP:0010895)	1.79533335
87	Abnormality of serine family amino acid metabolism (HP:0010894)	1.79533335
88	Gaze-evoked nystagmus (HP:0000640)	1.78516171
89	Small hand (HP:0200055)	1.78360950
90	Concave nail (HP:0001598)	1.75205556
91	Congenital hepatic fibrosis (HP:0002612)	1.75078148
92	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.74847708
93	Aplasia/hypoplasia of the uterus (HP:0008684)	1.74102664
94	Broad-based gait (HP:0002136)	1.73632570
95	Absent thumb (HP:0009777)	1.72173581
96	Severe muscular hypotonia (HP:0006829)	1.71275433
97	Bilateral microphthalmos (HP:0007633)	1.70651225
98	Respiratory failure (HP:0002878)	1.70619042
99	Dandy-Walker malformation (HP:0001305)	1.69056422
100	Gait imbalance (HP:0002141)	1.68350406

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.70582229
2	BMPR1B	3.26610320
3	ZAK	3.22758063
4	ADRBK2	2.93409526
5	BUB1	2.79513926
6	NUAK1	2.75150842
7	MAP4K2	2.73367448
8	VRK2	2.68618392
9	TLK1	2.49046748
10	WNK3	2.12635216
11	GRK1	1.97006223
12	TRIM28	1.92232720
13	VRK1	1.82323513
14	ACVR1B	1.79089573
15	TAOK3	1.69731017
16	PINK1	1.56588013
17	WNK4	1.55874391
18	INSRR	1.52868509
19	BCKDK	1.52103497
20	CDC7	1.51044250
21	MAPK13	1.50129326
22	BRSK2	1.43183572
23	MKNK2	1.39082366
24	NME1	1.37618603
25	PLK3	1.37022345
26	OXSR1	1.34579740
27	SRPK1	1.28875252
28	STK16	1.28721190
29	DYRK2	1.28662333
30	TNIK	1.25842583
31	MAP3K4	1.24731745
32	CSNK1G3	1.23890561
33	TXK	1.20812024
34	CSNK1G2	1.18953986
35	CSNK1G1	1.18383736
36	PLK4	1.14683037
37	TSSK6	1.13101813
38	MAPKAPK3	1.07336670
39	DAPK2	1.06031638
40	CASK	1.05844621
41	WEE1	1.04467839
42	PRKCG	1.03574074
43	TAF1	1.02463542
44	MAP2K7	1.01277580
45	EPHA4	0.99068346
46	NEK2	0.97525483
47	ADRBK1	0.97197867
48	CHEK2	0.94583623
49	MAPKAPK5	0.94533276
50	MUSK	0.94223158
51	TGFBR1	0.93874611
52	PLK1	0.91621791
53	TEC	0.87357144
54	PNCK	0.85139250
55	CSNK1A1L	0.83768188
56	MKNK1	0.79898594
57	ATR	0.75213336
58	CDK8	0.74092586
59	PLK2	0.73273457
60	NTRK3	0.73268772
61	MAP3K12	0.70760001
62	TIE1	0.69108103
63	PAK3	0.68608282
64	RPS6KA5	0.68534748
65	STK39	0.67014850
66	CDK19	0.66619039
67	PRKCE	0.65247560
68	MARK1	0.63570850
69	NEK1	0.61791629
70	PBK	0.61103328
71	MST4	0.54869904
72	GRK5	0.54248721
73	PRKCI	0.53368473
74	IKBKB	0.52687380
75	CSNK1A1	0.50346005
76	PHKG1	0.49544128
77	PHKG2	0.49544128
78	TNK2	0.48867345
79	BRSK1	0.46930017
80	CAMK2A	0.46650351
81	TTK	0.44705011
82	MAPK15	0.44089013
83	STK11	0.43428252
84	DAPK1	0.42548696
85	ITK	0.42216194
86	PRKCQ	0.41984369
87	CSNK2A1	0.41815607
88	PKN1	0.41477288
89	MINK1	0.40811746
90	AURKA	0.39406679
91	EIF2AK2	0.39377927
92	PRKACA	0.37787745
93	NTRK2	0.37579380
94	CSNK1D	0.37567838
95	CAMKK2	0.37252856
96	CLK1	0.37142407
97	MAP2K6	0.37039594
98	CAMK1	0.36884939
99	ATM	0.36697926
100	PRKCA	0.34589258

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	RNA polymerase_Homo sapiens_hsa03020	3.12559081
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.07358177
3	Proteasome_Homo sapiens_hsa03050	2.70028794
4	Homologous recombination_Homo sapiens_hsa03440	2.62278172
5	Parkinsons disease_Homo sapiens_hsa05012	2.55764811
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.46699550
7	Protein export_Homo sapiens_hsa03060	2.46159179
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.41312557
9	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.32502698
10	Phototransduction_Homo sapiens_hsa04744	2.15295181
11	Selenocompound metabolism_Homo sapiens_hsa00450	2.05677207
12	Ribosome_Homo sapiens_hsa03010	1.96633240
13	Fanconi anemia pathway_Homo sapiens_hsa03460	1.91556555
14	Basal transcription factors_Homo sapiens_hsa03022	1.89609111
15	Huntingtons disease_Homo sapiens_hsa05016	1.78637357
16	RNA degradation_Homo sapiens_hsa03018	1.78409910
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.75953582
18	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.75885058
19	Mismatch repair_Homo sapiens_hsa03430	1.70249328
20	Butanoate metabolism_Homo sapiens_hsa00650	1.66918137
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.64850126
22	One carbon pool by folate_Homo sapiens_hsa00670	1.62429475
23	Nicotine addiction_Homo sapiens_hsa05033	1.58138665
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.55940304
25	Alzheimers disease_Homo sapiens_hsa05010	1.52898534
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.52249222
27	Pyrimidine metabolism_Homo sapiens_hsa00240	1.49783966
28	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.48625595
29	Tryptophan metabolism_Homo sapiens_hsa00380	1.47027877
30	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.41889900
31	Base excision repair_Homo sapiens_hsa03410	1.37950637
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.34709104
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.33375720
34	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.28399078
35	DNA replication_Homo sapiens_hsa03030	1.26827250
36	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.25051921
37	Sulfur relay system_Homo sapiens_hsa04122	1.24842153
38	Non-homologous end-joining_Homo sapiens_hsa03450	1.24377317
39	Caffeine metabolism_Homo sapiens_hsa00232	1.23950934
40	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.20561839
41	Purine metabolism_Homo sapiens_hsa00230	1.20183199
42	Nucleotide excision repair_Homo sapiens_hsa03420	1.19850142
43	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.18780428
44	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.13079947
45	RNA transport_Homo sapiens_hsa03013	1.07774592
46	Propanoate metabolism_Homo sapiens_hsa00640	1.04671715
47	Ether lipid metabolism_Homo sapiens_hsa00565	1.04070290
48	Taste transduction_Homo sapiens_hsa04742	0.99223345
49	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.97539920
50	Spliceosome_Homo sapiens_hsa03040	0.97098810
51	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.95075871
52	Peroxisome_Homo sapiens_hsa04146	0.94123776
53	Morphine addiction_Homo sapiens_hsa05032	0.92191225
54	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.91378353
55	Regulation of autophagy_Homo sapiens_hsa04140	0.91120789
56	Olfactory transduction_Homo sapiens_hsa04740	0.90047521
57	Primary immunodeficiency_Homo sapiens_hsa05340	0.85867943
58	Fatty acid elongation_Homo sapiens_hsa00062	0.85009130
59	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.84370931
60	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.84153945
61	Sulfur metabolism_Homo sapiens_hsa00920	0.83312121
62	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.82129079
63	Collecting duct acid secretion_Homo sapiens_hsa04966	0.78744653
64	Metabolic pathways_Homo sapiens_hsa01100	0.75604902
65	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.75559814
66	Chemical carcinogenesis_Homo sapiens_hsa05204	0.71133394
67	GABAergic synapse_Homo sapiens_hsa04727	0.70388508
68	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.69235986
69	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.67681562
70	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.67463244
71	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.64565670
72	Serotonergic synapse_Homo sapiens_hsa04726	0.61779894
73	Retinol metabolism_Homo sapiens_hsa00830	0.61461618
74	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.59554632
75	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.59260408
76	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.55506633
77	beta-Alanine metabolism_Homo sapiens_hsa00410	0.54514859
78	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.53778490
79	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.53043560
80	Insulin secretion_Homo sapiens_hsa04911	0.50998295
81	Circadian entrainment_Homo sapiens_hsa04713	0.50822423
82	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.49985885
83	Asthma_Homo sapiens_hsa05310	0.49770234
84	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.49298379
85	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.43222189
86	ABC transporters_Homo sapiens_hsa02010	0.40647516
87	Glutamatergic synapse_Homo sapiens_hsa04724	0.39967661
88	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.39333650
89	Histidine metabolism_Homo sapiens_hsa00340	0.38197141
90	Glycerolipid metabolism_Homo sapiens_hsa00561	0.37082305
91	Folate biosynthesis_Homo sapiens_hsa00790	0.36217262
92	Steroid biosynthesis_Homo sapiens_hsa00100	0.34775039
93	Calcium signaling pathway_Homo sapiens_hsa04020	0.34710999
94	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.34139058
95	Pyruvate metabolism_Homo sapiens_hsa00620	0.33918232
96	Dopaminergic synapse_Homo sapiens_hsa04728	0.33328291
97	Cell cycle_Homo sapiens_hsa04110	0.32369375
98	Glutathione metabolism_Homo sapiens_hsa00480	0.30320167
99	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.28846604
100	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.28416861

C12ORF43

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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