ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	autophagic vacuole fusion (GO:0000046)	5.37599199
2	metallo-sulfur cluster assembly (GO:0031163)	5.36503731
3	iron-sulfur cluster assembly (GO:0016226)	5.36503731
4	sphingomyelin metabolic process (GO:0006684)	5.22144151
5	organelle membrane fusion (GO:0090174)	4.95456413
6	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	4.80792368
7	auditory receptor cell differentiation (GO:0042491)	4.75840435
8	energy homeostasis (GO:0097009)	4.25778686
9	2-deoxyribonucleotide biosynthetic process (GO:0009265)	3.80537916
10	deoxyribose phosphate biosynthetic process (GO:0046385)	3.80537916
11	S-adenosylmethionine metabolic process (GO:0046500)	3.76798136
12	regulation of vitamin D biosynthetic process (GO:0060556)	3.68288460
13	regulation of cellular amino acid metabolic process (GO:0006521)	3.56021398
14	negative regulation of monooxygenase activity (GO:0032769)	3.54778289
15	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.50151376
16	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.46787632
17	regulation of vitamin metabolic process (GO:0030656)	3.43750692
18	regulation of T-helper 1 cell differentiation (GO:0045625)	3.32579524
19	regulation of B cell apoptotic process (GO:0002902)	3.26634827
20	GMP metabolic process (GO:0046037)	3.25601660
21	positive regulation of prostaglandin secretion (GO:0032308)	3.21389424
22	L-phenylalanine metabolic process (GO:0006558)	3.20295652
23	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.20295652
24	GDP-mannose metabolic process (GO:0019673)	3.19931434
25	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.19095162
26	protein prenylation (GO:0018342)	3.17743343
27	prenylation (GO:0097354)	3.17743343
28	respiratory electron transport chain (GO:0022904)	3.16596243
29	electron transport chain (GO:0022900)	3.15539006
30	negative regulation of B cell apoptotic process (GO:0002903)	3.14922883
31	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.13734902
32	L-phenylalanine catabolic process (GO:0006559)	3.13734902
33	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	3.12202064
34	rRNA modification (GO:0000154)	3.06610636
35	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.05482797
36	ATP synthesis coupled proton transport (GO:0015986)	3.05482797
37	cellular response to vitamin D (GO:0071305)	3.03028606
38	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	3.00372540
39	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	3.00372540
40	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.00349879
41	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.98904404
42	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.98852027
43	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.97577498
44	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.97577498
45	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.97577498
46	ATP hydrolysis coupled proton transport (GO:0015991)	2.97146314
47	energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)	2.97146314
48	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.96278665
49	positive regulation of ligase activity (GO:0051351)	2.95890860
50	positive regulation of lamellipodium assembly (GO:0010592)	2.95576584
51	regulation of B cell receptor signaling pathway (GO:0050855)	2.95495989
52	signal peptide processing (GO:0006465)	2.90978698
53	negative regulation of oxidoreductase activity (GO:0051354)	2.90423218
54	regulation of mitochondrial translation (GO:0070129)	2.86549893
55	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.86192256
56	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.86192256
57	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.84720517
58	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.83156671
59	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.82939151
60	pteridine-containing compound biosynthetic process (GO:0042559)	2.82377475
61	glycerol ether metabolic process (GO:0006662)	2.81481611
62	positive regulation of lamellipodium organization (GO:1902745)	2.79923070
63	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.78298493
64	NAD biosynthetic process (GO:0009435)	2.77639672
65	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.76289902
66	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:	2.75903559
67	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.74613134
68	protein complex biogenesis (GO:0070271)	2.74514084
69	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.73455015
70	negative regulation of ligase activity (GO:0051352)	2.73455015
71	mitochondrial respiratory chain complex assembly (GO:0033108)	2.67148099
72	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	2.66042885
73	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.65087686
74	regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)	2.64882431
75	negative regulation of stress fiber assembly (GO:0051497)	2.64859453
76	ether metabolic process (GO:0018904)	2.63427925
77	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)	2.60665725
78	hydrogen ion transmembrane transport (GO:1902600)	2.58302733
79	cellular response to zinc ion (GO:0071294)	2.58020647
80	regulation of cellular amine metabolic process (GO:0033238)	2.57651785
81	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	2.57277956
82	regulation of prostaglandin secretion (GO:0032306)	2.55807517
83	deoxyribonucleotide biosynthetic process (GO:0009263)	2.55696894
84	nucleoside transport (GO:0015858)	2.53930003
85	GPI anchor biosynthetic process (GO:0006506)	2.53075722
86	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.50751342
87	positive regulation of fatty acid transport (GO:2000193)	2.50643627
88	proteasome assembly (GO:0043248)	2.48492805
89	aromatic amino acid family catabolic process (GO:0009074)	2.47613520
90	positive regulation of mRNA catabolic process (GO:0061014)	2.46972676
91	omega-hydroxylase P450 pathway (GO:0097267)	2.46969759
92	negative regulation of cell size (GO:0045792)	2.45564081
93	ether lipid metabolic process (GO:0046485)	2.44876888
94	negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)	2.44840985
95	negative regulation of T-helper cell differentiation (GO:0045623)	2.44840985
96	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.43435842
97	tetrahydrofolate metabolic process (GO:0046653)	2.41493774
98	cytochrome complex assembly (GO:0017004)	2.40166336
99	positive regulation of cell cycle arrest (GO:0071158)	2.40059077
100	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	2.39441715

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	4.41510425
2	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.48811623
3	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.47203932
4	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.86528923
5	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.75106237
6	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.71941685
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.65005851
8	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.64259953
9	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.58234367
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.58113053
11	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	2.46711054
12	ZNF263_19887448_ChIP-Seq_K562_Human	2.14156042
13	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	2.09749705
14	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	2.06616212
15	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.05962596
16	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.00807493
17	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.97564070
18	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.94170456
19	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.93095329
20	VDR_23849224_ChIP-Seq_CD4+_Human	1.91983622
21	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.89675970
22	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.89091334
23	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.84217898
24	FOXP3_21729870_ChIP-Seq_TREG_Human	1.72825944
25	CIITA_25753668_ChIP-Seq_RAJI_Human	1.72180836
26	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.67689287
27	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.63226860
28	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.61583520
29	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.55654399
30	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.53917228
31	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.51222035
32	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.49513090
33	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.48912102
34	VDR_22108803_ChIP-Seq_LS180_Human	1.48852570
35	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.48710945
36	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.47846823
37	BCL6_27268052_Chip-Seq_Bcells_Human	1.45471223
38	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.41377861
39	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.40686728
40	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.39909023
41	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.36682396
42	HTT_18923047_ChIP-ChIP_STHdh_Human	1.34178308
43	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.33565421
44	XRN2_22483619_ChIP-Seq_HELA_Human	1.33157946
45	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.33105451
46	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.32431195
47	E2F1_20622854_ChIP-Seq_HELA_Human	1.30493813
48	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.29588644
49	P300_27268052_Chip-Seq_Bcells_Human	1.28951579
50	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.28754206
51	DCP1A_22483619_ChIP-Seq_HELA_Human	1.28096792
52	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.26645530
53	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.25940439
54	GABP_19822575_ChIP-Seq_HepG2_Human	1.25835695
55	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.25650759
56	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.24212421
57	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.22931543
58	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.22041734
59	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.21104727
60	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.21087629
61	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.19423091
62	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	1.16384116
63	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.16334875
64	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.15670379
65	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.14912804
66	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.14688244
67	NCOR1_26117541_ChIP-Seq_K562_Human	1.14339350
68	SPI1_20517297_ChIP-Seq_HL60_Human	1.14291049
69	P68_20966046_ChIP-Seq_HELA_Human	1.13489494
70	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.12091846
71	RAC3_21632823_ChIP-Seq_H3396_Human	1.10912575
72	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.10387434
73	P53_21459846_ChIP-Seq_SAOS-2_Human	1.08124090
74	SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	1.07449885
75	TFEB_21752829_ChIP-Seq_HELA_Human	1.05413429
76	PHF8_20622854_ChIP-Seq_HELA_Human	1.04550671
77	LXR_22292898_ChIP-Seq_THP-1_Human	1.03649150
78	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.03153511
79	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	1.02733508
80	SPI1_23547873_ChIP-Seq_NB4_Human	1.02250351
81	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.00735387
82	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.00590844
83	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.00078784
84	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.99150969
85	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.98790758
86	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	0.98346557
87	STAT1_20625510_ChIP-Seq_HELA_Human	0.98316330
88	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.97967092
89	BCOR_27268052_Chip-Seq_Bcells_Human	0.97533800
90	ERG_20517297_ChIP-Seq_VCAP_Human	0.97097814
91	RARB_24833708_ChIP-Seq_LIVER_Mouse	0.96913584
92	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.96893519
93	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.96200590
94	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.95320010
95	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.94770623
96	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.93343369
97	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.92705155
98	AR_20517297_ChIP-Seq_VCAP_Human	0.91722858
99	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.91042002
100	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.90383858

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005451_abnormal_body_composition	4.68850698
2	MP0003195_calcinosis	4.25990329
3	MP0002138_abnormal_hepatobiliary_system	3.90335709
4	MP0002139_abnormal_hepatobiliary_system	3.49181163
5	MP0010386_abnormal_urinary_bladder	3.13339698
6	MP0009780_abnormal_chondrocyte_physiolo	2.69085515
7	MP0008875_abnormal_xenobiotic_pharmacok	2.62248450
8	MP0005084_abnormal_gallbladder_morpholo	2.54417928
9	MP0005058_abnormal_lysosome_morphology	2.45826497
10	MP0003806_abnormal_nucleotide_metabolis	2.40816966
11	MP0006072_abnormal_retinal_apoptosis	2.35395284
12	MP0005083_abnormal_biliary_tract	2.33008765
13	MP0003283_abnormal_digestive_organ	2.12108838
14	MP0003300_gastrointestinal_ulcer	2.04829480
15	MP0005220_abnormal_exocrine_pancreas	2.03535735
16	MP0005365_abnormal_bile_salt	1.90899842
17	MP0002837_dystrophic_cardiac_calcinosis	1.89368889
18	MP0006035_abnormal_mitochondrial_morpho	1.89135381
19	MP0004147_increased_porphyrin_level	1.86494396
20	MP0006036_abnormal_mitochondrial_physio	1.86334021
21	MP0003724_increased_susceptibility_to	1.79773817
22	MP0003436_decreased_susceptibility_to	1.65872756
23	MP0005670_abnormal_white_adipose	1.61783045
24	MP0001533_abnormal_skeleton_physiology	1.59358550
25	MP0002148_abnormal_hypersensitivity_rea	1.52179401
26	MP0003075_altered_response_to	1.47006775
27	MP0009840_abnormal_foam_cell	1.44886219
28	MP0005000_abnormal_immune_tolerance	1.39301079
29	MP0001873_stomach_inflammation	1.38469838
30	MP0009785_altered_susceptibility_to	1.35497509
31	MP0002132_abnormal_respiratory_system	1.34798922
32	MP0009046_muscle_twitch	1.33833839
33	MP0006054_spinal_hemorrhage	1.30247227
34	MP0005389_reproductive_system_phenotype	1.30065168
35	MP0005410_abnormal_fertilization	1.29781425
36	MP0003186_abnormal_redox_activity	1.27404968
37	MP0005360_urolithiasis	1.26863473
38	MP0001661_extended_life_span	1.24814747
39	MP0002168_other_aberrant_phenotype	1.23608894
40	MP0001790_abnormal_immune_system	1.22538091
41	MP0005387_immune_system_phenotype	1.22538091
42	MP0008260_abnormal_autophagy	1.20604788
43	MP0001845_abnormal_inflammatory_respons	1.19168083
44	MP0001666_abnormal_nutrient_absorption	1.18129402
45	MP0003045_fibrosis	1.17020717
46	MP0000685_abnormal_immune_system	1.16856222
47	MP0008872_abnormal_physiological_respon	1.16028560
48	MP0005395_other_phenotype	1.15319244
49	MP0005023_abnormal_wound_healing	1.15122961
50	MP0002160_abnormal_reproductive_system	1.10803930
51	MP0003763_abnormal_thymus_physiology	1.09798040
52	MP0005332_abnormal_amino_acid	1.09645228
53	MP0006082_CNS_inflammation	1.07341184
54	MP0009764_decreased_sensitivity_to	1.06691863
55	MP0009643_abnormal_urine_homeostasis	1.06377671
56	MP0002405_respiratory_system_inflammati	1.05374305
57	MP0000358_abnormal_cell_content/	1.04963241
58	MP0002163_abnormal_gland_morphology	1.04852588
59	MP0003718_maternal_effect	1.02705786
60	MP0005636_abnormal_mineral_homeostasis	1.02629014
61	MP0005319_abnormal_enzyme/_coenzyme	0.99433629
62	MP0001545_abnormal_hematopoietic_system	0.98139307
63	MP0005397_hematopoietic_system_phenotyp	0.98139307
64	MP0008004_abnormal_stomach_pH	0.97406479
65	MP0001919_abnormal_reproductive_system	0.96882576
66	MP0002876_abnormal_thyroid_physiology	0.95750981
67	MP0010155_abnormal_intestine_physiology	0.95440700
68	MP0009333_abnormal_splenocyte_physiolog	0.95264647
69	MP0000013_abnormal_adipose_tissue	0.95170668
70	MP0004742_abnormal_vestibular_system	0.95003500
71	MP0004808_abnormal_hematopoietic_stem	0.93639120
72	MP0003183_abnormal_peptide_metabolism	0.92365184
73	MP0002693_abnormal_pancreas_physiology	0.92342721
74	MP0008469_abnormal_protein_level	0.91922643
75	MP0000538_abnormal_urinary_bladder	0.91868773
76	MP0002452_abnormal_antigen_presenting	0.91036137
77	MP0001664_abnormal_digestion	0.91021242
78	MP0005551_abnormal_eye_electrophysiolog	0.88172132
79	MP0005025_abnormal_response_to	0.88034320
80	MP0001800_abnormal_humoral_immune	0.86666119
81	MP0002723_abnormal_immune_serum	0.85608143
82	MP0003786_premature_aging	0.84579416
83	MP0004782_abnormal_surfactant_physiolog	0.83615766
84	MP0001944_abnormal_pancreas_morphology	0.82695613
85	MP0005464_abnormal_platelet_physiology	0.82585145
86	MP0005671_abnormal_response_to	0.79983119
87	MP0005165_increased_susceptibility_to	0.78833728
88	MP0010329_abnormal_lipoprotein_level	0.78474531
89	MP0005166_decreased_susceptibility_to	0.77268579
90	MP0001542_abnormal_bone_strength	0.76198008
91	MP0002419_abnormal_innate_immunity	0.75926920
92	MP0002118_abnormal_lipid_homeostasis	0.75449287
93	MP0000689_abnormal_spleen_morphology	0.75367013
94	MP0005584_abnormal_enzyme/coenzyme_acti	0.74673777
95	MP0001765_abnormal_ion_homeostasis	0.73867132
96	MP0004019_abnormal_vitamin_homeostasis	0.73335313
97	MP0001835_abnormal_antigen_presentation	0.72866819
98	MP0002420_abnormal_adaptive_immunity	0.72696591
99	MP0008874_decreased_physiological_sensi	0.71685760
100	MP0001819_abnormal_immune_cell	0.71426494

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pigmentary retinal degeneration (HP:0001146)	5.00620984
2	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.18075673
3	Aplasia/hypoplasia of the uterus (HP:0008684)	4.07466067
4	Hypoplasia of the uterus (HP:0000013)	3.93144463
5	Abnormality of glycolipid metabolism (HP:0010969)	3.82153438
6	Abnormality of liposaccharide metabolism (HP:0010968)	3.82153438
7	Abnormality of glycosphingolipid metabolism (HP:0004343)	3.82153438
8	Abnormal rod and cone electroretinograms (HP:0008323)	3.73857911
9	Abnormal mitochondria in muscle tissue (HP:0008316)	3.53783738
10	Acute necrotizing encephalopathy (HP:0006965)	3.53690318
11	Acute encephalopathy (HP:0006846)	3.35875072
12	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.31215118
13	Mitochondrial inheritance (HP:0001427)	3.26066787
14	Hypomagnesemia (HP:0002917)	3.18057860
15	Progressive macrocephaly (HP:0004481)	3.07149858
16	Choroideremia (HP:0001139)	3.05554800
17	B lymphocytopenia (HP:0010976)	3.03413846
18	Increased circulating renin level (HP:0000848)	2.99640909
19	Hepatic necrosis (HP:0002605)	2.99303927
20	Hyperinsulinemic hypoglycemia (HP:0000825)	2.96450353
21	Increased CSF lactate (HP:0002490)	2.93684000
22	Abnormality of lateral ventricle (HP:0030047)	2.92553016
23	Abnormality of magnesium homeostasis (HP:0004921)	2.91324037
24	Interstitial pulmonary disease (HP:0006530)	2.80793091
25	Tetany (HP:0001281)	2.76727287
26	Hepatocellular necrosis (HP:0001404)	2.76523030
27	Hypothermia (HP:0002045)	2.75956857
28	Acute hepatic failure (HP:0006554)	2.57880235
29	Prolonged neonatal jaundice (HP:0006579)	2.55880304
30	Vacuolated lymphocytes (HP:0001922)	2.55686053
31	Increased hepatocellular lipid droplets (HP:0006565)	2.53711945
32	Renal Fanconi syndrome (HP:0001994)	2.51159367
33	Increased intramyocellular lipid droplets (HP:0012240)	2.49265841
34	Abnormality of B cell number (HP:0010975)	2.48645171
35	Gastrointestinal infarctions (HP:0005244)	2.44496758
36	Mutism (HP:0002300)	2.43282579
37	Agammaglobulinemia (HP:0004432)	2.43067760
38	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.37835438
39	Ileus (HP:0002595)	2.31654337
40	Attenuation of retinal blood vessels (HP:0007843)	2.30169331
41	Arthropathy (HP:0003040)	2.30069465
42	Prolonged partial thromboplastin time (HP:0003645)	2.29017173
43	Hyperglycemia (HP:0003074)	2.28856143
44	Episodic fever (HP:0001954)	2.27154722
45	Progressive neurologic deterioration (HP:0002344)	2.23076316
46	Glycosuria (HP:0003076)	2.20098066
47	Abnormality of urine glucose concentration (HP:0011016)	2.20098066
48	Flat capital femoral epiphysis (HP:0003370)	2.19437508
49	Dysostosis multiplex (HP:0000943)	2.18438791
50	Palpitations (HP:0001962)	2.16290890
51	Ketoacidosis (HP:0001993)	2.16053742
52	Aplastic anemia (HP:0001915)	2.12857404
53	Generalized aminoaciduria (HP:0002909)	2.12410113
54	Lipid accumulation in hepatocytes (HP:0006561)	2.09335137
55	Cerebral edema (HP:0002181)	2.03105690
56	Hyperphosphaturia (HP:0003109)	2.01044297
57	Reduced antithrombin III activity (HP:0001976)	1.99758462
58	Increased muscle lipid content (HP:0009058)	1.98695675
59	Elevated circulating parathyroid hormone (PTH) level (HP:0003165)	1.96911139
60	Basal ganglia calcification (HP:0002135)	1.96675060
61	Insulin-resistant diabetes mellitus (HP:0000831)	1.96338415
62	Irregular vertebral endplates (HP:0003301)	1.96243941
63	Large for gestational age (HP:0001520)	1.94701896
64	Pancreatic islet-cell hyperplasia (HP:0004510)	1.93926963
65	Lactic acidosis (HP:0003128)	1.93795678
66	Hypoglycemic coma (HP:0001325)	1.92818514
67	Infantile muscular hypotonia (HP:0008947)	1.91255979
68	Abnormal number of erythroid precursors (HP:0012131)	1.90497762
69	Joint stiffness (HP:0001387)	1.89708378
70	Skin rash (HP:0000988)	1.87736642
71	Nuclear cataract (HP:0100018)	1.87260885
72	Metaphyseal irregularity (HP:0003025)	1.87020959
73	Hypoglycemic seizures (HP:0002173)	1.86234007
74	Tachypnea (HP:0002789)	1.84920330
75	Delayed CNS myelination (HP:0002188)	1.84795096
76	Respiratory failure (HP:0002878)	1.84507269
77	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.81579827
78	Increased serum lactate (HP:0002151)	1.78092167
79	Retinal dysplasia (HP:0007973)	1.77295225
80	Increased corneal curvature (HP:0100692)	1.76516395
81	Keratoconus (HP:0000563)	1.76516395
82	Severe visual impairment (HP:0001141)	1.76301584
83	Male infertility (HP:0003251)	1.74890499
84	Polydipsia (HP:0001959)	1.74849993
85	Abnormal drinking behavior (HP:0030082)	1.74849993
86	Tongue fasciculations (HP:0001308)	1.74744911
87	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.72392913
88	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.72392913
89	Abnormality of polysaccharide metabolism (HP:0011012)	1.71509869
90	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.71509869
91	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.71509869
92	Azoospermia (HP:0000027)	1.68454512
93	Abnormal urine phosphate concentration (HP:0012599)	1.66963013
94	Hypokinesia (HP:0002375)	1.66874115
95	Postural tremor (HP:0002174)	1.66857349
96	Decreased central vision (HP:0007663)	1.65619529
97	Lethargy (HP:0001254)	1.64769056
98	Abnormality of midbrain morphology (HP:0002418)	1.62273453
99	Molar tooth sign on MRI (HP:0002419)	1.62273453
100	Abnormal spermatogenesis (HP:0008669)	1.61351044

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PRKD3	4.07368279
2	ERN1	3.58300370
3	LMTK2	3.43244207
4	INSRR	3.28121845
5	EIF2AK1	3.08434379
6	FLT3	2.68826740
7	NME2	2.57321407
8	IRAK3	2.54621381
9	EPHA3	2.49904808
10	MAP3K11	2.30917148
11	VRK2	2.20419128
12	STK16	2.11216511
13	ADRBK2	2.09454958
14	EIF2AK3	2.06069959
15	LIMK1	2.02008415
16	EPHB1	1.96877046
17	GRK1	1.96573547
18	MST4	1.83172413
19	MAPKAPK3	1.80658015
20	PKN2	1.79706701
21	NME1	1.70300002
22	TBK1	1.47439961
23	ARAF	1.46379511
24	MAP3K12	1.41414705
25	MAP3K1	1.41157766
26	PIM2	1.41000397
27	FRK	1.39027569
28	MAP2K6	1.35982316
29	KDR	1.34094007
30	PRKG2	1.26294545
31	SCYL2	1.21593853
32	TAOK3	1.15610098
33	FER	1.14824839
34	CDK8	1.14710896
35	MAP4K1	1.14633852
36	MYLK	1.05498400
37	PHKG1	1.03829677
38	PHKG2	1.03829677
39	NLK	1.02464166
40	BUB1	1.01075816
41	TEC	0.99556933
42	HIPK2	0.96677541
43	PLK2	0.95827574
44	PASK	0.94518625
45	IKBKB	0.93453157
46	CAMK2D	0.84775378
47	IRAK1	0.81468865
48	FGFR4	0.80176240
49	KIT	0.79866862
50	CSNK1G3	0.79428111
51	GRK6	0.78421126
52	MAP4K2	0.75897038
53	BCKDK	0.75617598
54	RPS6KA5	0.71872796
55	IRAK4	0.71449659
56	SYK	0.71024442
57	PAK4	0.69574385
58	TESK1	0.66751613
59	GRK5	0.65640343
60	CAMK2G	0.63988220
61	CSNK1G2	0.62863548
62	TLK1	0.62481787
63	CSNK1G1	0.62451970
64	DAPK1	0.61501640
65	PRKD2	0.59549691
66	PRKCE	0.58118673
67	ITK	0.57734042
68	NTRK3	0.56281475
69	RET	0.55793266
70	CSF1R	0.55319816
71	GRK7	0.54224483
72	ZAP70	0.52944739
73	STK3	0.52702779
74	WNK4	0.51850427
75	PRKCI	0.46962387
76	IKBKE	0.46667095
77	MATK	0.45885462
78	NUAK1	0.45126035
79	ABL1	0.44845574
80	TRPM7	0.43524471
81	CSNK1A1	0.42454425
82	LYN	0.42335816
83	BTK	0.41931110
84	JAK3	0.38574094
85	STK24	0.37589436
86	MOS	0.36448513
87	CSNK1A1L	0.35088360
88	FGFR3	0.34848373
89	PAK1	0.33801101
90	TESK2	0.33470946
91	JAK1	0.32457727
92	PRKCD	0.30898439
93	CDK4	0.30890000
94	MAPKAPK2	0.30745579
95	MAP3K6	0.29585177
96	PTK2B	0.28025742
97	ROCK1	0.27710464
98	CAMK2B	0.27386494
99	TGFBR1	0.24730337
100	JAK2	0.23711418

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	4.62629674
2	Other glycan degradation_Homo sapiens_hsa00511	3.79688111
3	Sulfur metabolism_Homo sapiens_hsa00920	3.77167783
4	Oxidative phosphorylation_Homo sapiens_hsa00190	3.71410012
5	Parkinsons disease_Homo sapiens_hsa05012	2.69928178
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.59626762
7	Sphingolipid metabolism_Homo sapiens_hsa00600	2.16994849
8	Protein export_Homo sapiens_hsa03060	2.14769102
9	Collecting duct acid secretion_Homo sapiens_hsa04966	2.13976302
10	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	2.12313053
11	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.95601156
12	Folate biosynthesis_Homo sapiens_hsa00790	1.92809525
13	Peroxisome_Homo sapiens_hsa04146	1.89126288
14	Alzheimers disease_Homo sapiens_hsa05010	1.87634644
15	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.87406294
16	Butanoate metabolism_Homo sapiens_hsa00650	1.85466971
17	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.83731831
18	Primary immunodeficiency_Homo sapiens_hsa05340	1.69489276
19	One carbon pool by folate_Homo sapiens_hsa00670	1.68899573
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.67619794
21	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.65559934
22	Mineral absorption_Homo sapiens_hsa04978	1.62499090
23	Huntingtons disease_Homo sapiens_hsa05016	1.59445297
24	Nitrogen metabolism_Homo sapiens_hsa00910	1.38292769
25	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.36822037
26	Rheumatoid arthritis_Homo sapiens_hsa05323	1.35722464
27	RNA polymerase_Homo sapiens_hsa03020	1.33216073
28	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.31726893
29	Type I diabetes mellitus_Homo sapiens_hsa04940	1.27930170
30	Selenocompound metabolism_Homo sapiens_hsa00450	1.25773993
31	Regulation of autophagy_Homo sapiens_hsa04140	1.22994720
32	Vibrio cholerae infection_Homo sapiens_hsa05110	1.21374446
33	Ether lipid metabolism_Homo sapiens_hsa00565	1.14601153
34	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.13329475
35	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.05176784
36	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.02940658
37	Taste transduction_Homo sapiens_hsa04742	1.02784738
38	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.98881604
39	Complement and coagulation cascades_Homo sapiens_hsa04610	0.98591611
40	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.98078052
41	Linoleic acid metabolism_Homo sapiens_hsa00591	0.97652700
42	Lysosome_Homo sapiens_hsa04142	0.96424614
43	Legionellosis_Homo sapiens_hsa05134	0.94270825
44	Homologous recombination_Homo sapiens_hsa03440	0.92703887
45	Pyrimidine metabolism_Homo sapiens_hsa00240	0.92553211
46	Glutathione metabolism_Homo sapiens_hsa00480	0.92243619
47	Cardiac muscle contraction_Homo sapiens_hsa04260	0.91969818
48	Pentose phosphate pathway_Homo sapiens_hsa00030	0.89744714
49	Ribosome_Homo sapiens_hsa03010	0.84185733
50	Fanconi anemia pathway_Homo sapiens_hsa03460	0.83544968
51	Metabolic pathways_Homo sapiens_hsa01100	0.81972551
52	Chemical carcinogenesis_Homo sapiens_hsa05204	0.80853041
53	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.79402646
54	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.77353306
55	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.76270993
56	Purine metabolism_Homo sapiens_hsa00230	0.75583097
57	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.72751172
58	Malaria_Homo sapiens_hsa05144	0.72368676
59	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.70063047
60	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.68754979
61	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.68042215
62	Pertussis_Homo sapiens_hsa05133	0.63907942
63	RNA degradation_Homo sapiens_hsa03018	0.63083646
64	Measles_Homo sapiens_hsa05162	0.62939468
65	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.62937236
66	Mismatch repair_Homo sapiens_hsa03430	0.62812754
67	Caffeine metabolism_Homo sapiens_hsa00232	0.62789984
68	Tyrosine metabolism_Homo sapiens_hsa00350	0.62317632
69	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.60641122
70	Phenylalanine metabolism_Homo sapiens_hsa00360	0.59864142
71	Tryptophan metabolism_Homo sapiens_hsa00380	0.58476731
72	Pancreatic secretion_Homo sapiens_hsa04972	0.57372769
73	Antigen processing and presentation_Homo sapiens_hsa04612	0.56016043
74	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.55211976
75	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.52549597
76	Nucleotide excision repair_Homo sapiens_hsa03420	0.51751147
77	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.49356822
78	Base excision repair_Homo sapiens_hsa03410	0.48582242
79	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.46055417
80	Shigellosis_Homo sapiens_hsa05131	0.45946160
81	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.45595772
82	Retinol metabolism_Homo sapiens_hsa00830	0.45411266
83	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.45169323
84	Asthma_Homo sapiens_hsa05310	0.44153832
85	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.43616154
86	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.43579738
87	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.43350009
88	Prion diseases_Homo sapiens_hsa05020	0.39551028
89	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.37830762
90	Fatty acid elongation_Homo sapiens_hsa00062	0.36768992
91	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.33390155
92	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.33348871
93	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.33143077
94	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.31823372
95	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.28536971
96	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.28313088
97	Histidine metabolism_Homo sapiens_hsa00340	0.27679794
98	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.22109450
99	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.21819858
100	Osteoclast differentiation_Homo sapiens_hsa04380	0.20439719

MAFIP

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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