ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tryptophan metabolic process (GO:0006568)	6.43821548
2	DNA deamination (GO:0045006)	6.35338354
3	tryptophan catabolic process (GO:0006569)	6.07704428
4	indole-containing compound catabolic process (GO:0042436)	6.07704428
5	indolalkylamine catabolic process (GO:0046218)	6.07704428
6	kynurenine metabolic process (GO:0070189)	5.87563988
7	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	5.27889371
8	cytidine metabolic process (GO:0046087)	4.81123790
9	cytidine catabolic process (GO:0006216)	4.81123790
10	cytidine deamination (GO:0009972)	4.81123790
11	indolalkylamine metabolic process (GO:0006586)	4.79032163
12	protein complex biogenesis (GO:0070271)	4.72726416
13	oxidative phosphorylation (GO:0006119)	4.55030856
14	rRNA modification (GO:0000154)	4.47648006
15	cytochrome complex assembly (GO:0017004)	4.45011625
16	pyrimidine ribonucleoside catabolic process (GO:0046133)	4.33833937
17	mitochondrial respiratory chain complex assembly (GO:0033108)	4.32106739
18	rRNA methylation (GO:0031167)	4.27368613
19	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	4.25955778
20	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	4.25955778
21	amine catabolic process (GO:0009310)	4.16002143
22	cellular biogenic amine catabolic process (GO:0042402)	4.16002143
23	aromatic amino acid family catabolic process (GO:0009074)	3.83701467
24	protein maturation by protein folding (GO:0022417)	3.81561030
25	respiratory chain complex IV assembly (GO:0008535)	3.79166933
26	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.71141294
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.63643966
28	NADH dehydrogenase complex assembly (GO:0010257)	3.63643966
29	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.63643966
30	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.44457583
31	metallo-sulfur cluster assembly (GO:0031163)	3.44155105
32	iron-sulfur cluster assembly (GO:0016226)	3.44155105
33	ubiquinone biosynthetic process (GO:0006744)	3.43752842
34	GMP metabolic process (GO:0046037)	3.41033803
35	positive regulation of protein homodimerization activity (GO:0090073)	3.34586580
36	negative regulation of calcium ion transport into cytosol (GO:0010523)	3.31032741
37	negative regulation by host of viral transcription (GO:0043922)	3.30801196
38	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.28852905
39	amino acid salvage (GO:0043102)	3.27820949
40	L-methionine salvage (GO:0071267)	3.27820949
41	L-methionine biosynthetic process (GO:0071265)	3.27820949
42	indole-containing compound metabolic process (GO:0042430)	3.27661782
43	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.22979601
44	ATP synthesis coupled proton transport (GO:0015986)	3.22979601
45	negative regulation of neurotransmitter transport (GO:0051589)	3.21785495
46	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	3.20909873
47	lysine catabolic process (GO:0006554)	3.20893400
48	lysine metabolic process (GO:0006553)	3.20893400
49	protein neddylation (GO:0045116)	3.19632797
50	aldehyde catabolic process (GO:0046185)	3.19272373
51	DNA demethylation (GO:0080111)	3.18137785
52	aromatic amino acid family metabolic process (GO:0009072)	3.17882967
53	positive regulation of prostaglandin secretion (GO:0032308)	3.11535038
54	lysosome localization (GO:0032418)	3.10379676
55	S-adenosylmethionine metabolic process (GO:0046500)	3.10132970
56	phosphatidylinositol acyl-chain remodeling (GO:0036149)	3.09758549
57	ubiquinone metabolic process (GO:0006743)	3.08804160
58	cornea development in camera-type eye (GO:0061303)	3.04543923
59	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.02672780
60	GPI anchor biosynthetic process (GO:0006506)	2.98581394
61	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	2.96494565
62	aspartate family amino acid catabolic process (GO:0009068)	2.95288877
63	mannosylation (GO:0097502)	2.94831810
64	transcription from mitochondrial promoter (GO:0006390)	2.90335021
65	cell fate commitment involved in formation of primary germ layer (GO:0060795)	2.87228294
66	signal peptide processing (GO:0006465)	2.86003927
67	GPI anchor metabolic process (GO:0006505)	2.84991179
68	quinone biosynthetic process (GO:1901663)	2.83750705
69	retinal cone cell development (GO:0046549)	2.81449723
70	mast cell activation involved in immune response (GO:0002279)	2.79618463
71	mast cell degranulation (GO:0043303)	2.79618463
72	preassembly of GPI anchor in ER membrane (GO:0016254)	2.77817453
73	respiratory electron transport chain (GO:0022904)	2.76762032
74	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.76564146
75	electron transport chain (GO:0022900)	2.76285720
76	response to interferon-beta (GO:0035456)	2.73965004
77	chaperone mediated protein folding requiring cofactor (GO:0051085)	2.73952806
78	NAD biosynthetic process (GO:0009435)	2.71076339
79	regulation of cellular amino acid metabolic process (GO:0006521)	2.69859338
80	negative regulation of neurotransmitter secretion (GO:0046929)	2.69327311
81	benzene-containing compound metabolic process (GO:0042537)	2.67233027
82	DNA double-strand break processing (GO:0000729)	2.65155405
83	protein deneddylation (GO:0000338)	2.64455617
84	histamine transport (GO:0051608)	2.61736414
85	oxidative demethylation (GO:0070989)	2.61591202
86	proteasome assembly (GO:0043248)	2.59499036
87	DNA damage response, detection of DNA damage (GO:0042769)	2.58142362
88	immunoglobulin mediated immune response (GO:0016064)	2.54687478
89	dicarboxylic acid biosynthetic process (GO:0043650)	2.52768694
90	chaperone-mediated protein transport (GO:0072321)	2.52730163
91	behavioral response to nicotine (GO:0035095)	2.51785103
92	cardiolipin metabolic process (GO:0032048)	2.51415419
93	cobalamin metabolic process (GO:0009235)	2.51040415
94	cullin deneddylation (GO:0010388)	2.49153875
95	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.48990150
96	DNA dealkylation (GO:0035510)	2.48652555
97	regulation of hexokinase activity (GO:1903299)	2.48519682
98	regulation of glucokinase activity (GO:0033131)	2.48519682
99	regulation of prostaglandin secretion (GO:0032306)	2.47313940
100	cytolysis (GO:0019835)	2.46344791

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ELF1_17652178_ChIP-ChIP_JURKAT_Human	5.23739874
2	BP1_19119308_ChIP-ChIP_Hs578T_Human	4.19049967
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.96131230
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.93392003
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.68363226
6	ZNF274_21170338_ChIP-Seq_K562_Hela	3.48564436
7	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.24802445
8	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.18819500
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.85594058
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.53407187
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.52494174
12	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	2.45235774
13	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.43381908
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.33397240
15	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.32620350
16	VDR_23849224_ChIP-Seq_CD4+_Human	2.26368708
17	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.25058006
18	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.15348820
19	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	2.02903542
20	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.93768269
21	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.92593947
22	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.90431973
23	EWS_26573619_Chip-Seq_HEK293_Human	1.90241920
24	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.85901264
25	ELK1_19687146_ChIP-ChIP_HELA_Human	1.84640191
26	VDR_22108803_ChIP-Seq_LS180_Human	1.83223017
27	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.79509501
28	FOXP3_21729870_ChIP-Seq_TREG_Human	1.76298422
29	AR_20517297_ChIP-Seq_VCAP_Human	1.72698254
30	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.72078283
31	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.54101339
32	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.52767201
33	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.50440188
34	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.50440188
35	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.48706601
36	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.46017431
37	GATA3_26560356_Chip-Seq_TH2_Human	1.44700038
38	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.42517154
39	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.41823563
40	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.39096888
41	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.38118504
42	GABP_19822575_ChIP-Seq_HepG2_Human	1.36195010
43	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.35516733
44	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.34851040
45	GBX2_23144817_ChIP-Seq_PC3_Human	1.34691477
46	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.32593828
47	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.32355729
48	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.31194008
49	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.30038151
50	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.28694787
51	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28374442
52	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28374442
53	TAF2_19829295_ChIP-Seq_ESCs_Human	1.27724536
54	TP53_22573176_ChIP-Seq_HFKS_Human	1.27539463
55	CBP_20019798_ChIP-Seq_JUKART_Human	1.27187860
56	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.27187860
57	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.26793499
58	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.25839009
59	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.22744890
60	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.17311626
61	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.17195062
62	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.17188476
63	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.16875126
64	CIITA_25753668_ChIP-Seq_RAJI_Human	1.16177263
65	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.15558026
66	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.14538830
67	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.12082069
68	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.10523876
69	ERG_20517297_ChIP-Seq_VCAP_Human	1.09306551
70	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.09053612
71	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.08890513
72	P53_21459846_ChIP-Seq_SAOS-2_Human	1.08439598
73	MYB_26560356_Chip-Seq_TH2_Human	1.07357204
74	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.07342883
75	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.06715131
76	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.06605135
77	GATA3_26560356_Chip-Seq_TH1_Human	1.06183919
78	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04872651
79	HTT_18923047_ChIP-ChIP_STHdh_Human	1.03389624
80	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.02374309
81	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.00908046
82	TAF15_26573619_Chip-Seq_HEK293_Human	1.00179549
83	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.98449740
84	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.97826347
85	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.96673525
86	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96624673
87	FUS_26573619_Chip-Seq_HEK293_Human	0.96522066
88	MYC_18940864_ChIP-ChIP_HL60_Human	0.96324498
89	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.96204624
90	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.94431581
91	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.94016813
92	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.92937840
93	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.91853493
94	HOXB7_26014856_ChIP-Seq_BT474_Human	0.91422500
95	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.91155785
96	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.89697048
97	CEBPB_22108803_ChIP-Seq_LS180_Human	0.89572992
98	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.89227722
99	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.89078910
100	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.88492053

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002138_abnormal_hepatobiliary_system	4.93331466
2	MP0008875_abnormal_xenobiotic_pharmacok	4.75843901
3	MP0005167_abnormal_blood-brain_barrier	3.06983125
4	MP0003724_increased_susceptibility_to	2.78377022
5	MP0002166_altered_tumor_susceptibility	2.76817932
6	MP0002163_abnormal_gland_morphology	2.58303085
7	MP0008775_abnormal_heart_ventricle	2.38662290
8	MP0002006_tumorigenesis	2.24891203
9	MP0004145_abnormal_muscle_electrophysio	2.23222845
10	MP0004084_abnormal_cardiac_muscle	2.19521395
11	MP0009333_abnormal_splenocyte_physiolog	2.17621382
12	MP0005646_abnormal_pituitary_gland	2.13452050
13	MP0009697_abnormal_copulation	2.11906786
14	MP0009780_abnormal_chondrocyte_physiolo	2.09039371
15	MP0001968_abnormal_touch/_nociception	2.01227640
16	MP0003252_abnormal_bile_duct	1.95734541
17	MP0002837_dystrophic_cardiac_calcinosis	1.95230600
18	MP0001835_abnormal_antigen_presentation	1.94747717
19	MP0002736_abnormal_nociception_after	1.88365134
20	MP0005671_abnormal_response_to	1.83971948
21	MP0005379_endocrine/exocrine_gland_phen	1.82281651
22	MP0002277_abnormal_respiratory_mucosa	1.73527871
23	MP0001764_abnormal_homeostasis	1.63242556
24	MP0004043_abnormal_pH_regulation	1.55931593
25	MP0001919_abnormal_reproductive_system	1.51993209
26	MP0002148_abnormal_hypersensitivity_rea	1.50502623
27	MP0008872_abnormal_physiological_respon	1.49760354
28	MP0002876_abnormal_thyroid_physiology	1.49042835
29	MP0009785_altered_susceptibility_to	1.45107306
30	MP0003186_abnormal_redox_activity	1.44729714
31	MP0002102_abnormal_ear_morphology	1.42701078
32	MP0005220_abnormal_exocrine_pancreas	1.40835705
33	MP0004036_abnormal_muscle_relaxation	1.38835691
34	MP0005389_reproductive_system_phenotype	1.36506313
35	MP0006036_abnormal_mitochondrial_physio	1.34576402
36	MP0002928_abnormal_bile_duct	1.30202784
37	MP0003950_abnormal_plasma_membrane	1.30096014
38	MP0002160_abnormal_reproductive_system	1.29911235
39	MP0001529_abnormal_vocalization	1.27423634
40	MP0000749_muscle_degeneration	1.23759693
41	MP0004215_abnormal_myocardial_fiber	1.18895397
42	MP0002132_abnormal_respiratory_system	1.17896268
43	MP0005410_abnormal_fertilization	1.16786110
44	MP0008877_abnormal_DNA_methylation	1.16446309
45	MP0009643_abnormal_urine_homeostasis	1.14477974
46	MP0001905_abnormal_dopamine_level	1.11885786
47	MP0000613_abnormal_salivary_gland	1.10600863
48	MP0005083_abnormal_biliary_tract	1.09504413
49	MP0003075_altered_response_to	1.09081723
50	MP0005551_abnormal_eye_electrophysiolog	1.08181797
51	MP0006082_CNS_inflammation	1.06030244
52	MP0003693_abnormal_embryo_hatching	1.05690676
53	MP0005165_increased_susceptibility_to	1.04726910
54	MP0006292_abnormal_olfactory_placode	1.04345737
55	MP0003763_abnormal_thymus_physiology	1.03072616
56	MP0005084_abnormal_gallbladder_morpholo	1.01448883
57	MP0001790_abnormal_immune_system	1.01120903
58	MP0005387_immune_system_phenotype	1.01120903
59	MP0003806_abnormal_nucleotide_metabolis	1.00077818
60	MP0003195_calcinosis	0.97947462
61	MP0001800_abnormal_humoral_immune	0.97761626
62	MP0005365_abnormal_bile_salt	0.97516136
63	MP0005000_abnormal_immune_tolerance	0.97321363
64	MP0005253_abnormal_eye_physiology	0.96875209
65	MP0005332_abnormal_amino_acid	0.96838383
66	MP0003279_aneurysm	0.96726312
67	MP0006072_abnormal_retinal_apoptosis	0.96659668
68	MP0005085_abnormal_gallbladder_physiolo	0.96538100
69	MP0003045_fibrosis	0.93830780
70	MP0003646_muscle_fatigue	0.93730669
71	MP0000358_abnormal_cell_content/	0.92227990
72	MP0000569_abnormal_digit_pigmentation	0.90970993
73	MP0010386_abnormal_urinary_bladder	0.89017087
74	MP0005174_abnormal_tail_pigmentation	0.87497751
75	MP0008058_abnormal_DNA_repair	0.86164224
76	MP0003866_abnormal_defecation	0.85513771
77	MP0000639_abnormal_adrenal_gland	0.84755718
78	MP0002420_abnormal_adaptive_immunity	0.84186964
79	MP0006276_abnormal_autonomic_nervous	0.83524413
80	MP0000427_abnormal_hair_cycle	0.80849440
81	MP0002282_abnormal_trachea_morphology	0.80382261
82	MP0005645_abnormal_hypothalamus_physiol	0.79905592
83	MP0001819_abnormal_immune_cell	0.79745130
84	MP0010094_abnormal_chromosome_stability	0.78226668
85	MP0005360_urolithiasis	0.78177874
86	MP0002452_abnormal_antigen_presenting	0.76766583
87	MP0001661_extended_life_span	0.76675912
88	MP0003638_abnormal_response/metabolism_	0.74792670
89	MP0000230_abnormal_systemic_arterial	0.71858193
90	MP0001664_abnormal_digestion	0.71529210
91	MP0005636_abnormal_mineral_homeostasis	0.70390357
92	MP0005330_cardiomyopathy	0.70213458
93	MP0009764_decreased_sensitivity_to	0.69829504
94	MP0002909_abnormal_adrenal_gland	0.69802393
95	MP0004147_increased_porphyrin_level	0.69781371
96	MP0000689_abnormal_spleen_morphology	0.69630228
97	MP0006035_abnormal_mitochondrial_morpho	0.69278885
98	MP0003718_maternal_effect	0.69249198
99	MP0004484_altered_response_of	0.66973719
100	MP0000538_abnormal_urinary_bladder	0.66816105

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type 2 muscle fiber atrophy (HP:0003554)	4.84299572
2	Panhypogammaglobulinemia (HP:0003139)	4.32988944
3	Muscle fiber atrophy (HP:0100295)	4.31783789
4	Mitochondrial inheritance (HP:0001427)	3.90655807
5	Abnormal mitochondria in muscle tissue (HP:0008316)	3.66945857
6	Increased CSF lactate (HP:0002490)	3.64545493
7	Hepatocellular necrosis (HP:0001404)	3.56824334
8	Acute necrotizing encephalopathy (HP:0006965)	3.54935910
9	Hepatic necrosis (HP:0002605)	3.33577167
10	3-Methylglutaconic aciduria (HP:0003535)	3.25602686
11	Testicular atrophy (HP:0000029)	3.23386789
12	Lipid accumulation in hepatocytes (HP:0006561)	3.18740807
13	Hypoproteinemia (HP:0003075)	3.17371381
14	Methylmalonic aciduria (HP:0012120)	3.14754370
15	Increased intramyocellular lipid droplets (HP:0012240)	3.13568969
16	Progressive macrocephaly (HP:0004481)	3.05393958
17	Acute encephalopathy (HP:0006846)	3.03155212
18	Hypoplasia of the uterus (HP:0000013)	3.01038909
19	Methylmalonic acidemia (HP:0002912)	2.96511506
20	Agammaglobulinemia (HP:0004432)	2.95591929
21	Azoospermia (HP:0000027)	2.94946592
22	Increased hepatocellular lipid droplets (HP:0006565)	2.94734249
23	Hyperglycinuria (HP:0003108)	2.93878022
24	Increased muscle lipid content (HP:0009058)	2.92247409
25	Tubulointerstitial fibrosis (HP:0005576)	2.91710812
26	Elevated erythrocyte sedimentation rate (HP:0003565)	2.88819188
27	Abnormality of glycine metabolism (HP:0010895)	2.83241017
28	Abnormality of serine family amino acid metabolism (HP:0010894)	2.83241017
29	Hyperglycinemia (HP:0002154)	2.82848295
30	Malignant hyperthermia (HP:0002047)	2.82775518
31	Renal Fanconi syndrome (HP:0001994)	2.74048272
32	Opisthotonus (HP:0002179)	2.73624171
33	Dicarboxylic aciduria (HP:0003215)	2.65898672
34	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.65898672
35	Aplasia/hypoplasia of the uterus (HP:0008684)	2.65643662
36	Abnormality of midbrain morphology (HP:0002418)	2.62070846
37	Molar tooth sign on MRI (HP:0002419)	2.62070846
38	Aplastic anemia (HP:0001915)	2.60356412
39	Cerebral edema (HP:0002181)	2.59970935
40	Weak cry (HP:0001612)	2.57775230
41	Abnormality of the renal cortex (HP:0011035)	2.57377856
42	Gaze-evoked nystagmus (HP:0000640)	2.54756742
43	True hermaphroditism (HP:0010459)	2.54442914
44	Reduced antithrombin III activity (HP:0001976)	2.53341417
45	Abnormal delayed hypersensitivity skin test (HP:0002963)	2.52243530
46	Pancreatic cysts (HP:0001737)	2.51319699
47	Increased serum lactate (HP:0002151)	2.50927943
48	Abnormal spermatogenesis (HP:0008669)	2.49029069
49	Calf muscle hypertrophy (HP:0008981)	2.48216559
50	Type I transferrin isoform profile (HP:0003642)	2.44418766
51	Abnormal protein glycosylation (HP:0012346)	2.43871960
52	Abnormal glycosylation (HP:0012345)	2.43871960
53	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.43871960
54	Abnormal protein N-linked glycosylation (HP:0012347)	2.43871960
55	Severe combined immunodeficiency (HP:0004430)	2.37632480
56	Respiratory failure (HP:0002878)	2.32888360
57	Lactic acidosis (HP:0003128)	2.32354439
58	Pancreatic fibrosis (HP:0100732)	2.30599500
59	Thyroiditis (HP:0100646)	2.29751080
60	Tubulointerstitial abnormality (HP:0001969)	2.27489662
61	Ketosis (HP:0001946)	2.23327141
62	Abnormality of the prostate (HP:0008775)	2.18209500
63	Abnormal biliary tract physiology (HP:0012439)	2.16463277
64	Bile duct proliferation (HP:0001408)	2.16463277
65	Lethargy (HP:0001254)	2.15940655
66	Disproportionate short-trunk short stature (HP:0003521)	2.15160783
67	Spastic paraparesis (HP:0002313)	2.14881402
68	Nephronophthisis (HP:0000090)	2.14717901
69	Congenital stationary night blindness (HP:0007642)	2.14393781
70	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.14393168
71	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.14393168
72	Muscle hypertrophy of the lower extremities (HP:0008968)	2.14066678
73	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.13701295
74	Periodontitis (HP:0000704)	2.02796904
75	CNS demyelination (HP:0007305)	2.01417531
76	Abnormality of the renal medulla (HP:0100957)	1.99847810
77	Abnormality of lateral ventricle (HP:0030047)	1.99027608
78	IgM deficiency (HP:0002850)	1.98926454
79	Attenuation of retinal blood vessels (HP:0007843)	1.97921295
80	Large eyes (HP:0001090)	1.95641727
81	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.95225937
82	Fatigable weakness (HP:0003473)	1.94987558
83	Abnormality of the neuromuscular junction (HP:0003398)	1.94987558
84	Posterior subcapsular cataract (HP:0007787)	1.94775401
85	Renal cortical cysts (HP:0000803)	1.93703732
86	Chronic mucocutaneous candidiasis (HP:0002728)	1.91556660
87	Recurrent cutaneous fungal infections (HP:0011370)	1.91556660
88	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.90991795
89	Amniotic constriction ring (HP:0009775)	1.90893206
90	Abnormality of placental membranes (HP:0011409)	1.90893206
91	Exertional dyspnea (HP:0002875)	1.89955780
92	Congenital, generalized hypertrichosis (HP:0004540)	1.89567744
93	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.88184525
94	Eosinophilia (HP:0001880)	1.86341735
95	Stomatitis (HP:0010280)	1.84828196
96	Abnormality of T cells (HP:0002843)	1.83703046
97	B lymphocytopenia (HP:0010976)	1.82024424
98	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.81980666
99	Abnormality of vitamin B metabolism (HP:0004340)	1.81120062
100	Mesangial abnormality (HP:0001966)	1.80223633

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BMPR1B	5.10375665
2	BCKDK	4.13005249
3	MAP4K2	3.94048664
4	VRK2	3.16424734
5	LMTK2	2.94165309
6	CDK8	2.70548252
7	TGFBR1	2.57153036
8	NUAK1	2.50243561
9	TNK2	2.30844456
10	EIF2AK3	2.25020075
11	FRK	2.24980990
12	MST4	2.23684664
13	ZAK	2.16519255
14	PLK2	2.07531350
15	PIK3CA	2.01261976
16	MAPKAPK5	1.87895917
17	KIT	1.84567138
18	TAOK3	1.59466073
19	MKNK1	1.57760217
20	KDR	1.53977350
21	VRK1	1.46804587
22	GRK1	1.44510781
23	EIF2AK1	1.44215068
24	FES	1.31407810
25	DAPK2	1.31269152
26	TLK1	1.29838294
27	TAF1	1.27811408
28	CDK9	1.22398437
29	TESK2	1.20881931
30	BMPR2	1.18305153
31	PIM2	1.16194226
32	OBSCN	1.13583712
33	PRKG2	1.06687667
34	BCR	1.04745265
35	LIMK1	1.04405953
36	TIE1	1.00458515
37	SIK3	0.98168694
38	SYK	0.97979833
39	ADRBK2	0.96068207
40	FLT3	0.95752944
41	ITK	0.94645444
42	NME2	0.88066703
43	PRKCQ	0.88015561
44	CDK7	0.83258773
45	RPS6KA5	0.83049857
46	ACVR1B	0.82881343
47	MET	0.82555196
48	MAPK13	0.82486477
49	PLK3	0.81503526
50	EPHA3	0.79875456
51	WNK3	0.79694644
52	PINK1	0.76385616
53	FER	0.76332743
54	PRKCI	0.74689256
55	TEC	0.73712238
56	RIPK4	0.73434445
57	RPS6KA4	0.72226934
58	MAP4K1	0.71672805
59	STK16	0.71363107
60	ERN1	0.70561459
61	CSNK1G3	0.69805763
62	ATR	0.67841380
63	CAMKK2	0.66350368
64	LYN	0.66337114
65	GRK5	0.66245720
66	CCNB1	0.64479621
67	TBK1	0.62640339
68	TXK	0.61345147
69	CSNK1G2	0.58595692
70	ABL2	0.57228621
71	INSRR	0.56209171
72	TRIM28	0.51350264
73	DAPK1	0.49159058
74	EIF2AK2	0.49032574
75	CSNK1A1L	0.48443550
76	CSNK1G1	0.48128530
77	GRK7	0.46430528
78	PRKCE	0.46120697
79	CSNK1A1	0.45574920
80	IKBKB	0.43810298
81	TESK1	0.43520349
82	MAPKAPK3	0.43040344
83	DAPK3	0.41957913
84	CAMK2A	0.41380132
85	BTK	0.41320218
86	WNK4	0.40357369
87	OXSR1	0.38741914
88	CAMK1	0.34478865
89	PRKCA	0.34389871
90	AURKA	0.34299755
91	ADRBK1	0.32792417
92	ABL1	0.31260839
93	LRRK2	0.30899575
94	CAMK2D	0.30070125
95	ERBB3	0.27200386
96	HIPK2	0.24993899
97	NEK9	0.24437404
98	LCK	0.24011445
99	CSNK2A1	0.23971232
100	MYLK	0.23705531

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	7.46716475
2	Proteasome_Homo sapiens_hsa03050	2.99636899
3	Allograft rejection_Homo sapiens_hsa05330	2.56855171
4	Graft-versus-host disease_Homo sapiens_hsa05332	2.49330368
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.48368748
6	Asthma_Homo sapiens_hsa05310	2.42551799
7	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.38582639
8	Oxidative phosphorylation_Homo sapiens_hsa00190	2.35876750
9	Primary immunodeficiency_Homo sapiens_hsa05340	2.25160408
10	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.23617542
11	Antigen processing and presentation_Homo sapiens_hsa04612	2.07371588
12	Parkinsons disease_Homo sapiens_hsa05012	2.04883019
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.00750647
14	Type I diabetes mellitus_Homo sapiens_hsa04940	1.99825912
15	Propanoate metabolism_Homo sapiens_hsa00640	1.79401305
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.74408135
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.67295202
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.63643672
19	Protein export_Homo sapiens_hsa03060	1.57370238
20	RNA polymerase_Homo sapiens_hsa03020	1.45810685
21	Peroxisome_Homo sapiens_hsa04146	1.43530877
22	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.33690115
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.33601094
24	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.31516898
25	Alzheimers disease_Homo sapiens_hsa05010	1.28994889
26	Huntingtons disease_Homo sapiens_hsa05016	1.27482179
27	Butanoate metabolism_Homo sapiens_hsa00650	1.25207838
28	Phototransduction_Homo sapiens_hsa04744	1.21072486
29	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.15090605
30	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.11522948
31	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.10679278
32	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.08312050
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.07025827
34	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.02527652
35	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.01325168
36	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.00921011
37	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00679413
38	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.97453504
39	Mineral absorption_Homo sapiens_hsa04978	0.97024965
40	Rheumatoid arthritis_Homo sapiens_hsa05323	0.96789809
41	RNA degradation_Homo sapiens_hsa03018	0.92754629
42	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.92630934
43	Fatty acid elongation_Homo sapiens_hsa00062	0.92168946
44	Olfactory transduction_Homo sapiens_hsa04740	0.90787124
45	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.89225304
46	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.88131355
47	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.86345642
48	One carbon pool by folate_Homo sapiens_hsa00670	0.84123766
49	Retinol metabolism_Homo sapiens_hsa00830	0.82598088
50	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.79715495
51	Ribosome_Homo sapiens_hsa03010	0.78515779
52	Ether lipid metabolism_Homo sapiens_hsa00565	0.77961429
53	Fatty acid degradation_Homo sapiens_hsa00071	0.75886262
54	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.75878149
55	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.75648402
56	Fanconi anemia pathway_Homo sapiens_hsa03460	0.75637181
57	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.75264803
58	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.74047864
59	Viral myocarditis_Homo sapiens_hsa05416	0.73212793
60	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.70421470
61	Basal transcription factors_Homo sapiens_hsa03022	0.68978756
62	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.68535079
63	Salivary secretion_Homo sapiens_hsa04970	0.65512644
64	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.64100635
65	Nitrogen metabolism_Homo sapiens_hsa00910	0.62602065
66	Metabolic pathways_Homo sapiens_hsa01100	0.62442255
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.61939284
68	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.57664898
69	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.55753342
70	Purine metabolism_Homo sapiens_hsa00230	0.55585251
71	Pyrimidine metabolism_Homo sapiens_hsa00240	0.53634534
72	Arginine and proline metabolism_Homo sapiens_hsa00330	0.51776522
73	Non-homologous end-joining_Homo sapiens_hsa03450	0.51147429
74	Glutathione metabolism_Homo sapiens_hsa00480	0.50098928
75	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.49042316
76	Phenylalanine metabolism_Homo sapiens_hsa00360	0.48150984
77	Regulation of autophagy_Homo sapiens_hsa04140	0.47352856
78	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.46805132
79	Selenocompound metabolism_Homo sapiens_hsa00450	0.46466512
80	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.44123784
81	Base excision repair_Homo sapiens_hsa03410	0.43736139
82	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.42680144
83	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.39913662
84	Folate biosynthesis_Homo sapiens_hsa00790	0.38332334
85	Carbon metabolism_Homo sapiens_hsa01200	0.37430820
86	ABC transporters_Homo sapiens_hsa02010	0.36940207
87	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.36700658
88	Sulfur metabolism_Homo sapiens_hsa00920	0.36618335
89	beta-Alanine metabolism_Homo sapiens_hsa00410	0.35562473
90	Spliceosome_Homo sapiens_hsa03040	0.34972850
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.32959381
92	Homologous recombination_Homo sapiens_hsa03440	0.28103134
93	Circadian rhythm_Homo sapiens_hsa04710	0.26795773
94	Fatty acid metabolism_Homo sapiens_hsa01212	0.26308951
95	Nucleotide excision repair_Homo sapiens_hsa03420	0.24912822
96	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.23877940
97	Herpes simplex infection_Homo sapiens_hsa05168	0.23085771
98	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.22971130
99	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.21044852
100	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.19324170

BDH2P1

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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