ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	signal peptide processing (GO:0006465)	5.24332588
2	endosome to melanosome transport (GO:0035646)	5.07932606
3	endosome to pigment granule transport (GO:0043485)	5.07932606
4	respiratory chain complex IV assembly (GO:0008535)	4.84808543
5	platelet dense granule organization (GO:0060155)	4.82049735
6	negative regulation of execution phase of apoptosis (GO:1900118)	4.77648484
7	anterograde synaptic vesicle transport (GO:0048490)	4.55100736
8	Leydig cell differentiation (GO:0033327)	4.54747546
9	single strand break repair (GO:0000012)	4.50903306
10	positive regulation of histone H3-K4 methylation (GO:0051571)	4.29571100
11	snRNA transcription (GO:0009301)	4.00097209
12	regulation of cilium movement (GO:0003352)	3.95382378
13	histone H2A acetylation (GO:0043968)	3.85942337
14	cytochrome complex assembly (GO:0017004)	3.83085066
15	protein K11-linked deubiquitination (GO:0035871)	3.75220523
16	L-alpha-amino acid transmembrane transport (GO:1902475)	3.54182962
17	coenzyme catabolic process (GO:0009109)	3.53071763
18	COPII vesicle coating (GO:0048208)	3.44665870
19	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.44277881
20	protein complex biogenesis (GO:0070271)	3.40448318
21	cellular ketone body metabolic process (GO:0046950)	3.35971706
22	rRNA methylation (GO:0031167)	3.26756173
23	mitochondrial respiratory chain complex assembly (GO:0033108)	3.17376421
24	proteasome assembly (GO:0043248)	3.16597400
25	branched-chain amino acid catabolic process (GO:0009083)	3.16243664
26	cellular response to leptin stimulus (GO:0044320)	3.08544631
27	ribonucleoprotein complex disassembly (GO:0032988)	3.07177317
28	DNA deamination (GO:0045006)	2.98614614
29	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.97641140
30	rRNA modification (GO:0000154)	2.97329465
31	regulation of translational termination (GO:0006449)	2.96420740
32	intra-Golgi vesicle-mediated transport (GO:0006891)	2.96304577
33	DNA integration (GO:0015074)	2.95870531
34	peptidyl-histidine modification (GO:0018202)	2.92063176
35	ketone body metabolic process (GO:1902224)	2.90400474
36	inositol phosphate catabolic process (GO:0071545)	2.90225026
37	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.88632156
38	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.88261976
39	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.88261976
40	regulation of translation, ncRNA-mediated (GO:0045974)	2.88261976
41	response to pheromone (GO:0019236)	2.87590868
42	heme transport (GO:0015886)	2.86243570
43	S-adenosylmethionine metabolic process (GO:0046500)	2.84679366
44	telomere maintenance via telomerase (GO:0007004)	2.83683575
45	positive regulation of TOR signaling (GO:0032008)	2.83550802
46	ubiquinone biosynthetic process (GO:0006744)	2.79801227
47	nonmotile primary cilium assembly (GO:0035058)	2.79231672
48	protein polyglutamylation (GO:0018095)	2.78779106
49	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.77630231
50	auditory receptor cell differentiation (GO:0042491)	2.76685205
51	positive regulation of histone methylation (GO:0031062)	2.76535639
52	epithelial cell fate commitment (GO:0072148)	2.74792189
53	regulation of histone H3-K4 methylation (GO:0051569)	2.73273838
54	melanosome transport (GO:0032402)	2.73169827
55	mitochondrial RNA metabolic process (GO:0000959)	2.73051441
56	epithelial cilium movement (GO:0003351)	2.72733059
57	establishment of protein localization to Golgi (GO:0072600)	2.72427669
58	positive regulation of developmental pigmentation (GO:0048087)	2.71064019
59	RNA polyadenylation (GO:0043631)	2.70412372
60	regulation of hexokinase activity (GO:1903299)	2.70366803
61	regulation of glucokinase activity (GO:0033131)	2.70366803
62	DNA ligation (GO:0006266)	2.69852205
63	cullin deneddylation (GO:0010388)	2.69160072
64	ubiquinone metabolic process (GO:0006743)	2.67724236
65	positive regulation of mRNA processing (GO:0050685)	2.67464924
66	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.65816955
67	NADH dehydrogenase complex assembly (GO:0010257)	2.65816955
68	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.65816955
69	protein targeting to Golgi (GO:0000042)	2.65642816
70	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.64575117
71	branched-chain amino acid metabolic process (GO:0009081)	2.63455827
72	axoneme assembly (GO:0035082)	2.62613112
73	regulation of telomere maintenance (GO:0032204)	2.58847926
74	positive regulation of mRNA metabolic process (GO:1903313)	2.58620915
75	mRNA polyadenylation (GO:0006378)	2.58507339
76	protein deneddylation (GO:0000338)	2.57565062
77	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.57458708
78	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.57458708
79	female gonad development (GO:0008585)	2.57058750
80	anterograde axon cargo transport (GO:0008089)	2.55902308
81	establishment of melanosome localization (GO:0032401)	2.55244485
82	melanosome localization (GO:0032400)	2.54157403
83	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.49785680
84	inositol phosphate dephosphorylation (GO:0046855)	2.49785680
85	glycerophospholipid catabolic process (GO:0046475)	2.49775226
86	positive regulation of mRNA 3-end processing (GO:0031442)	2.48801424
87	pigment granule transport (GO:0051904)	2.48148876
88	protein targeting to lysosome (GO:0006622)	2.47978274
89	establishment of protein localization to vacuole (GO:0072666)	2.47978274
90	protein targeting to vacuole (GO:0006623)	2.47978274
91	regulation of execution phase of apoptosis (GO:1900117)	2.47556875
92	non-recombinational repair (GO:0000726)	2.47525551
93	double-strand break repair via nonhomologous end joining (GO:0006303)	2.47525551
94	response to leptin (GO:0044321)	2.47225120
95	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.46960332
96	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.44660086
97	regulation of mitotic spindle checkpoint (GO:1903504)	2.44660086
98	polyol catabolic process (GO:0046174)	2.44149850
99	cellular response to oxygen radical (GO:0071450)	2.41225266
100	cellular response to superoxide (GO:0071451)	2.41225266

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.14453872
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.49952351
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.30236610
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.11662014
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.00655626
6	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.84624601
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.75410316
8	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.74602632
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.58907308
10	FUS_26573619_Chip-Seq_HEK293_Human	2.42067252
11	VDR_22108803_ChIP-Seq_LS180_Human	2.41947314
12	ELK1_19687146_ChIP-ChIP_HELA_Human	2.27711053
13	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	2.20182446
14	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.19783478
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.18582544
16	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.18120016
17	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.16130470
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.10217543
19	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.09013839
20	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.06299468
21	PCGF2_27294783_Chip-Seq_NPCs_Mouse	2.04708486
22	IGF1R_20145208_ChIP-Seq_DFB_Human	2.03781626
23	GBX2_23144817_ChIP-Seq_PC3_Human	1.85820136
24	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.85779350
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.77785662
26	EWS_26573619_Chip-Seq_HEK293_Human	1.76416766
27	BCAT_22108803_ChIP-Seq_LS180_Human	1.65691137
28	GATA1_22025678_ChIP-Seq_K562_Human	1.64617204
29	VDR_23849224_ChIP-Seq_CD4+_Human	1.62944625
30	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.59762973
31	ER_23166858_ChIP-Seq_MCF-7_Human	1.57681707
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.56376282
33	P300_19829295_ChIP-Seq_ESCs_Human	1.50421751
34	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.49439590
35	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.41931902
36	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.39536747
37	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.39017896
38	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.37852568
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.37563818
40	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.37135774
41	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.36530150
42	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.34476109
43	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.34414303
44	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.33613972
45	STAT3_23295773_ChIP-Seq_U87_Human	1.33417217
46	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.33009319
47	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.32793329
48	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30405065
49	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.29595903
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.29221893
51	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.26281742
52	TCF4_23295773_ChIP-Seq_U87_Human	1.26141046
53	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.25421658
54	CBP_20019798_ChIP-Seq_JUKART_Human	1.24254129
55	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.24254129
56	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22630549
57	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.22153435
58	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.20898987
59	SMAD4_21799915_ChIP-Seq_A2780_Human	1.19596239
60	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.19329027
61	TCF4_22108803_ChIP-Seq_LS180_Human	1.18489107
62	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.18427273
63	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.17627120
64	HTT_18923047_ChIP-ChIP_STHdh_Human	1.17447357
65	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.16040731
66	FOXP3_21729870_ChIP-Seq_TREG_Human	1.15788642
67	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.14672376
68	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.14019667
69	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.13854789
70	JUN_21703547_ChIP-Seq_K562_Human	1.12866102
71	NANOG_19829295_ChIP-Seq_ESCs_Human	1.12811809
72	SOX2_19829295_ChIP-Seq_ESCs_Human	1.12811809
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.11789895
74	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.11434082
75	MYC_18940864_ChIP-ChIP_HL60_Human	1.11190441
76	P53_22387025_ChIP-Seq_ESCs_Mouse	1.10433022
77	P300_18555785_Chip-Seq_ESCs_Mouse	1.10269896
78	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.09457705
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09279221
80	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.09251536
81	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.08966573
82	CDX2_22108803_ChIP-Seq_LS180_Human	1.07312568
83	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.06837377
84	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.06488166
85	AR_25329375_ChIP-Seq_VCAP_Human	1.06044945
86	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.05404501
87	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.05371816
88	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.05180617
89	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.05079769
90	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.02190194
91	AR_20517297_ChIP-Seq_VCAP_Human	1.01651002
92	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.01623793
93	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.01112077
94	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.00557727
95	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.99605502
96	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.99378703
97	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.99214827
98	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.99139380
99	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.98615664
100	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.98251913

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006054_spinal_hemorrhage	5.56578267
2	MP0002254_reproductive_system_inflammat	4.75230917
3	MP0009780_abnormal_chondrocyte_physiolo	3.71860764
4	MP0002837_dystrophic_cardiac_calcinosis	3.65918174
5	MP0000569_abnormal_digit_pigmentation	3.27253100
6	MP0005379_endocrine/exocrine_gland_phen	2.85139300
7	MP0003195_calcinosis	2.67440590
8	MP0010386_abnormal_urinary_bladder	2.42135355
9	MP0003950_abnormal_plasma_membrane	2.21645886
10	MP0000013_abnormal_adipose_tissue	2.18782589
11	MP0008058_abnormal_DNA_repair	2.17415934
12	MP0002163_abnormal_gland_morphology	2.12149845
13	MP0002909_abnormal_adrenal_gland	2.08555328
14	MP0008995_early_reproductive_senescence	2.06686112
15	MP0006072_abnormal_retinal_apoptosis	1.97092833
16	MP0002736_abnormal_nociception_after	1.92841336
17	MP0002734_abnormal_mechanical_nocicepti	1.87334877
18	MP0009697_abnormal_copulation	1.83563372
19	MP0001968_abnormal_touch/_nociception	1.82967815
20	MP0001188_hyperpigmentation	1.82904745
21	MP0000372_irregular_coat_pigmentation	1.82639181
22	MP0003786_premature_aging	1.80913355
23	MP0010329_abnormal_lipoprotein_level	1.70821580
24	MP0005636_abnormal_mineral_homeostasis	1.68255824
25	MP0005253_abnormal_eye_physiology	1.58676174
26	MP0000516_abnormal_urinary_system	1.54754563
27	MP0005367_renal/urinary_system_phenotyp	1.54754563
28	MP0004142_abnormal_muscle_tone	1.52841232
29	MP0002295_abnormal_pulmonary_circulatio	1.51845107
30	MP0009046_muscle_twitch	1.49283894
31	MP0000427_abnormal_hair_cycle	1.48071396
32	MP0000015_abnormal_ear_pigmentation	1.46736471
33	MP0003172_abnormal_lysosome_physiology	1.45693548
34	MP0008872_abnormal_physiological_respon	1.43988947
35	MP0004885_abnormal_endolymph	1.42044442
36	MP0008877_abnormal_DNA_methylation	1.40104724
37	MP0005174_abnormal_tail_pigmentation	1.37851711
38	MP0005645_abnormal_hypothalamus_physiol	1.37757682
39	MP0001944_abnormal_pancreas_morphology	1.37100199
40	MP0001986_abnormal_taste_sensitivity	1.36450032
41	MP0001661_extended_life_span	1.33351826
42	MP0002139_abnormal_hepatobiliary_system	1.21461559
43	MP0005310_abnormal_salivary_gland	1.21458036
44	MP0005551_abnormal_eye_electrophysiolog	1.21150351
45	MP0009745_abnormal_behavioral_response	1.18825389
46	MP0002876_abnormal_thyroid_physiology	1.15298279
47	MP0002735_abnormal_chemical_nociception	1.14896985
48	MP0005075_abnormal_melanosome_morpholog	1.13385585
49	MP0003186_abnormal_redox_activity	1.11415962
50	MP0001270_distended_abdomen	1.09717510
51	MP0002090_abnormal_vision	1.05902269
52	MP0001984_abnormal_olfaction	1.04898643
53	MP0000538_abnormal_urinary_bladder	1.04766299
54	MP0003941_abnormal_skin_development	1.02908598
55	MP0003646_muscle_fatigue	1.02026817
56	MP0000371_diluted_coat_color	1.01278419
57	MP0006035_abnormal_mitochondrial_morpho	1.01031385
58	MP0000647_abnormal_sebaceous_gland	1.00856113
59	MP0004215_abnormal_myocardial_fiber	0.99752139
60	MP0005332_abnormal_amino_acid	0.99684794
61	MP0004147_increased_porphyrin_level	0.99044807
62	MP0004133_heterotaxia	0.98604582
63	MP0000639_abnormal_adrenal_gland	0.97854963
64	MP0005084_abnormal_gallbladder_morpholo	0.95576627
65	MP0003693_abnormal_embryo_hatching	0.95179642
66	MP0005503_abnormal_tendon_morphology	0.93948531
67	MP0001485_abnormal_pinna_reflex	0.92487298
68	MP0005275_abnormal_skin_tensile	0.92160023
69	MP0005410_abnormal_fertilization	0.91015237
70	MP0005085_abnormal_gallbladder_physiolo	0.90744833
71	MP0001756_abnormal_urination	0.90637365
72	MP0003880_abnormal_central_pattern	0.90083949
73	MP0002693_abnormal_pancreas_physiology	0.87391419
74	MP0008775_abnormal_heart_ventricle	0.85999243
75	MP0002938_white_spotting	0.83349276
76	MP0001905_abnormal_dopamine_level	0.82570223
77	MP0000462_abnormal_digestive_system	0.82470233
78	MP0002733_abnormal_thermal_nociception	0.81948065
79	MP0000003_abnormal_adipose_tissue	0.81307819
80	MP0006036_abnormal_mitochondrial_physio	0.79876095
81	MP0002095_abnormal_skin_pigmentation	0.79844863
82	MP0003633_abnormal_nervous_system	0.79703264
83	MP0005408_hypopigmentation	0.78546533
84	MP0002067_abnormal_sensory_capabilities	0.77740310
85	MP0005220_abnormal_exocrine_pancreas	0.75080034
86	MP0004085_abnormal_heartbeat	0.74616014
87	MP0004019_abnormal_vitamin_homeostasis	0.74540967
88	MP0000358_abnormal_cell_content/	0.74416522
89	MP0005389_reproductive_system_phenotype	0.74343010
90	MP0001970_abnormal_pain_threshold	0.73968620
91	MP0002272_abnormal_nervous_system	0.73563379
92	MP0002069_abnormal_eating/drinking_beha	0.72139228
93	MP0003718_maternal_effect	0.71372087
94	MP0003111_abnormal_nucleus_morphology	0.70854201
95	MP0003890_abnormal_embryonic-extraembry	0.70322610
96	MP0001765_abnormal_ion_homeostasis	0.70038119
97	MP0008004_abnormal_stomach_pH	0.68018204
98	MP0003252_abnormal_bile_duct	0.67922971
99	MP0002138_abnormal_hepatobiliary_system	0.64562176
100	MP0001243_abnormal_dermal_layer	0.64131596

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Intestinal atresia (HP:0011100)	6.88580695
2	Acute necrotizing encephalopathy (HP:0006965)	3.84972932
3	Congenital malformation of the right heart (HP:0011723)	3.77645410
4	Double outlet right ventricle (HP:0001719)	3.77645410
5	Methylmalonic acidemia (HP:0002912)	3.67329926
6	Pancreatic cysts (HP:0001737)	3.66125811
7	Progressive macrocephaly (HP:0004481)	3.62715126
8	Hypobetalipoproteinemia (HP:0003563)	3.53859402
9	Acute encephalopathy (HP:0006846)	3.52907866
10	Postural tremor (HP:0002174)	3.43539270
11	Oligodactyly (hands) (HP:0001180)	3.36994334
12	Abnormal mitochondria in muscle tissue (HP:0008316)	3.24557218
13	Medial flaring of the eyebrow (HP:0010747)	3.21169597
14	Abnormality of vitamin B metabolism (HP:0004340)	3.15670279
15	Broad-based gait (HP:0002136)	3.07708686
16	Aqueductal stenosis (HP:0002410)	3.04553045
17	Gastrointestinal atresia (HP:0002589)	2.87763981
18	Orthostatic hypotension (HP:0001278)	2.83649059
19	Abnormal hair whorl (HP:0010721)	2.80941123
20	Methylmalonic aciduria (HP:0012120)	2.77545953
21	Pancreatic fibrosis (HP:0100732)	2.77088337
22	Fair hair (HP:0002286)	2.76539404
23	Abnormality of the parathyroid morphology (HP:0011766)	2.72636334
24	Gaze-evoked nystagmus (HP:0000640)	2.65546078
25	Progressive inability to walk (HP:0002505)	2.56880295
26	Chin dimple (HP:0010751)	2.53279754
27	Delayed puberty (HP:0000823)	2.51109205
28	Increased CSF lactate (HP:0002490)	2.45789156
29	Cerebral edema (HP:0002181)	2.43975079
30	Mitochondrial inheritance (HP:0001427)	2.42347271
31	True hermaphroditism (HP:0010459)	2.42152288
32	Broad alveolar ridges (HP:0000187)	2.38548569
33	Abnormality of homocysteine metabolism (HP:0010919)	2.38013103
34	Homocystinuria (HP:0002156)	2.38013103
35	Hypoalbuminemia (HP:0003073)	2.33378894
36	Abnormal albumin level (HP:0012116)	2.33378894
37	Nephrogenic diabetes insipidus (HP:0009806)	2.30500546
38	Labial hypoplasia (HP:0000066)	2.30301185
39	Congenital primary aphakia (HP:0007707)	2.28754754
40	Hypothermia (HP:0002045)	2.27685404
41	Abnormality of the labia minora (HP:0012880)	2.22200275
42	Gait imbalance (HP:0002141)	2.17308020
43	Hyperphosphatemia (HP:0002905)	2.16724300
44	Hemiparesis (HP:0001269)	2.15950843
45	Esophageal atresia (HP:0002032)	2.13684428
46	Occipital encephalocele (HP:0002085)	2.12905023
47	Renal hypoplasia (HP:0000089)	2.10259176
48	Abnormality of midbrain morphology (HP:0002418)	2.08573091
49	Molar tooth sign on MRI (HP:0002419)	2.08573091
50	Type I transferrin isoform profile (HP:0003642)	2.06708330
51	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.06311206
52	Abnormal protein N-linked glycosylation (HP:0012347)	2.06311206
53	Abnormal protein glycosylation (HP:0012346)	2.06311206
54	Abnormal glycosylation (HP:0012345)	2.06311206
55	Volvulus (HP:0002580)	2.04179772
56	Hypolipoproteinemia (HP:0010981)	2.03352289
57	Hip dysplasia (HP:0001385)	2.02035759
58	Abnormality of the labia (HP:0000058)	2.01298680
59	Hypoplastic female external genitalia (HP:0012815)	2.01283162
60	Abnormality of methionine metabolism (HP:0010901)	2.01233383
61	Anencephaly (HP:0002323)	1.99232343
62	Large for gestational age (HP:0001520)	1.97710027
63	Generalized hypopigmentation of hair (HP:0011358)	1.97461829
64	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.96466522
65	Hyperglycemia (HP:0003074)	1.95927704
66	Anophthalmia (HP:0000528)	1.95670012
67	Oculomotor apraxia (HP:0000657)	1.95263708
68	Overlapping toe (HP:0001845)	1.93236464
69	Hyperventilation (HP:0002883)	1.92600019
70	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	1.92409668
71	Increased CSF protein (HP:0002922)	1.92083255
72	Ketoacidosis (HP:0001993)	1.89874744
73	Oligodactyly (HP:0012165)	1.89524636
74	Dysautonomia (HP:0002459)	1.89148497
75	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.88164917
76	Hypoplasia of the fovea (HP:0007750)	1.88164917
77	Action tremor (HP:0002345)	1.88086179
78	Abnormality of vitamin metabolism (HP:0100508)	1.88026646
79	Aplasia/hypoplasia of the uterus (HP:0008684)	1.85971009
80	Abnormality of the pons (HP:0007361)	1.84783347
81	Hypoplasia of the pons (HP:0012110)	1.84407317
82	Neonatal respiratory distress (HP:0002643)	1.83184728
83	Sex reversal (HP:0012245)	1.82963209
84	Abnormal sex determination (HP:0012244)	1.82963209
85	Prolonged partial thromboplastin time (HP:0003645)	1.82785419
86	Increased hepatocellular lipid droplets (HP:0006565)	1.81060439
87	Absent speech (HP:0001344)	1.80603206
88	Poor coordination (HP:0002370)	1.80586733
89	Limb hypertonia (HP:0002509)	1.78350552
90	Tubular atrophy (HP:0000092)	1.78323608
91	Prolonged neonatal jaundice (HP:0006579)	1.78076848
92	Cystic liver disease (HP:0006706)	1.77812493
93	Lipid accumulation in hepatocytes (HP:0006561)	1.76536524
94	Limb dystonia (HP:0002451)	1.76467251
95	Hydroxyprolinuria (HP:0003080)	1.75278481
96	Abnormality of proline metabolism (HP:0010907)	1.75278481
97	Disproportionate short-trunk short stature (HP:0003521)	1.74849191
98	Congenital, generalized hypertrichosis (HP:0004540)	1.74580349
99	Lethargy (HP:0001254)	1.74386809
100	Anteriorly placed anus (HP:0001545)	1.73875397

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	4.73975498
2	MAP3K4	4.29734207
3	FRK	4.18231261
4	PDK2	3.57595581
5	MST4	3.26053956
6	ACVR1B	2.92826936
7	WNK3	2.47336116
8	NUAK1	2.35190259
9	ERBB4	2.30098750
10	PAK3	2.28447100
11	STK16	2.20071587
12	MKNK2	2.12925080
13	PBK	2.10036191
14	TNIK	2.02365408
15	AKT3	1.96536661
16	PINK1	1.80055971
17	MAP2K7	1.78379074
18	NEK1	1.75119034
19	ZAK	1.60984195
20	STK3	1.51579634
21	NME1	1.47729014
22	ERBB3	1.45535407
23	CASK	1.36397375
24	BCKDK	1.33197597
25	TRPM7	1.30647240
26	BMPR1B	1.28954125
27	SRPK1	1.28119259
28	MAP2K4	1.26366757
29	STK4	1.21278362
30	GRK1	1.13838364
31	PRKCI	1.11877584
32	BRD4	1.11699274
33	NEK6	1.04224488
34	BRSK2	1.00039652
35	STK38L	0.97431803
36	PLK3	0.96262315
37	CLK1	0.95248121
38	RAF1	0.92727853
39	NTRK3	0.92649588
40	MKNK1	0.91563821
41	PRKCG	0.91473561
42	TRIM28	0.89700905
43	PRKCE	0.89398941
44	MAP3K12	0.87924835
45	MAP3K2	0.86886996
46	EIF2AK1	0.84865544
47	PLK2	0.84207800
48	ADRBK2	0.83388265
49	CCNB1	0.81728158
50	FER	0.81010049
51	NLK	0.76964514
52	CSNK1G1	0.75969538
53	TSSK6	0.75192183
54	CSNK1G3	0.74046081
55	PHKG2	0.73306915
56	PHKG1	0.73306915
57	UHMK1	0.71917833
58	FGFR2	0.70947824
59	WNK4	0.69952962
60	TTK	0.68472485
61	CSNK1G2	0.67959050
62	MYLK	0.66050598
63	BUB1	0.61143213
64	PLK1	0.58031782
65	TLK1	0.57098057
66	TEC	0.54437085
67	YES1	0.52611917
68	KSR1	0.49824098
69	ATM	0.47450314
70	PTK2B	0.47273651
71	CSNK1A1L	0.47272480
72	MAPK13	0.45670598
73	INSRR	0.45654572
74	CDC42BPA	0.42601932
75	VRK1	0.42460230
76	DYRK3	0.39776838
77	EPHA4	0.38560416
78	MAP2K1	0.37082341
79	CAMK2D	0.36151760
80	CSNK1E	0.35683308
81	CHEK1	0.34076726
82	NTRK2	0.33333785
83	MAP2K6	0.32567038
84	EIF2AK3	0.31755151
85	OXSR1	0.31526582
86	TNK2	0.30646841
87	PRKG1	0.30037441
88	PRKCB	0.27518700
89	ILK	0.27447541
90	OBSCN	0.27442655
91	PRKAA2	0.27094991
92	STK11	0.25722296
93	PRKACG	0.25550699
94	SGK1	0.25459559
95	PRKACA	0.24401418
96	PRKACB	0.24065327
97	PRKDC	0.23852824
98	CSNK2A2	0.22879985
99	PRKCQ	0.22825992
100	PRKCA	0.22564608

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Propanoate metabolism_Homo sapiens_hsa00640	3.58030914
2	Protein export_Homo sapiens_hsa03060	3.54408632
3	Selenocompound metabolism_Homo sapiens_hsa00450	3.51198327
4	Sulfur metabolism_Homo sapiens_hsa00920	3.04317192
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.90766238
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.63974460
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.55225074
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.51248222
9	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.47233878
10	Butanoate metabolism_Homo sapiens_hsa00650	2.29624984
11	Proteasome_Homo sapiens_hsa03050	2.27832796
12	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.26861301
13	Non-homologous end-joining_Homo sapiens_hsa03450	2.17145066
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.15822012
15	One carbon pool by folate_Homo sapiens_hsa00670	2.11607805
16	RNA polymerase_Homo sapiens_hsa03020	1.88628566
17	Parkinsons disease_Homo sapiens_hsa05012	1.87216585
18	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.83335338
19	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.79260450
20	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.75864598
21	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.73061794
22	Basal transcription factors_Homo sapiens_hsa03022	1.67201121
23	Nitrogen metabolism_Homo sapiens_hsa00910	1.63885410
24	Phototransduction_Homo sapiens_hsa04744	1.62915442
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.59928294
26	beta-Alanine metabolism_Homo sapiens_hsa00410	1.48534801
27	Collecting duct acid secretion_Homo sapiens_hsa04966	1.47003965
28	Pyruvate metabolism_Homo sapiens_hsa00620	1.43264353
29	Alzheimers disease_Homo sapiens_hsa05010	1.33372894
30	Sphingolipid metabolism_Homo sapiens_hsa00600	1.27874642
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.26697784
32	ABC transporters_Homo sapiens_hsa02010	1.18226125
33	Homologous recombination_Homo sapiens_hsa03440	1.17619554
34	Huntingtons disease_Homo sapiens_hsa05016	1.16922316
35	RNA degradation_Homo sapiens_hsa03018	1.16044022
36	Glutathione metabolism_Homo sapiens_hsa00480	1.15199571
37	Peroxisome_Homo sapiens_hsa04146	1.14918765
38	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.11331664
39	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.06276508
40	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.04205008
41	Taste transduction_Homo sapiens_hsa04742	0.99805087
42	Ether lipid metabolism_Homo sapiens_hsa00565	0.99802370
43	Purine metabolism_Homo sapiens_hsa00230	0.96452817
44	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.94875537
45	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.93949020
46	Tryptophan metabolism_Homo sapiens_hsa00380	0.93528966
47	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.91086453
48	Cardiac muscle contraction_Homo sapiens_hsa04260	0.83308947
49	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.83041490
50	Circadian rhythm_Homo sapiens_hsa04710	0.77926295
51	RNA transport_Homo sapiens_hsa03013	0.76043084
52	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.73213086
53	Metabolic pathways_Homo sapiens_hsa01100	0.72552754
54	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.71682612
55	Mineral absorption_Homo sapiens_hsa04978	0.69366483
56	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.68997661
57	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.68885027
58	Base excision repair_Homo sapiens_hsa03410	0.67150821
59	GABAergic synapse_Homo sapiens_hsa04727	0.64959052
60	Fatty acid elongation_Homo sapiens_hsa00062	0.63384792
61	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.62627735
62	Folate biosynthesis_Homo sapiens_hsa00790	0.60120017
63	Fatty acid degradation_Homo sapiens_hsa00071	0.57835643
64	Pyrimidine metabolism_Homo sapiens_hsa00240	0.57415544
65	Serotonergic synapse_Homo sapiens_hsa04726	0.56949760
66	Insulin secretion_Homo sapiens_hsa04911	0.54211043
67	Basal cell carcinoma_Homo sapiens_hsa05217	0.53492227
68	Olfactory transduction_Homo sapiens_hsa04740	0.52903215
69	Salivary secretion_Homo sapiens_hsa04970	0.50894363
70	Lysosome_Homo sapiens_hsa04142	0.50364340
71	Caffeine metabolism_Homo sapiens_hsa00232	0.49570541
72	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.42499397
73	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.42445693
74	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.40750371
75	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.39652744
76	Nicotine addiction_Homo sapiens_hsa05033	0.39437787
77	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.38303662
78	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.38064813
79	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.37909477
80	Long-term depression_Homo sapiens_hsa04730	0.36720989
81	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.36641964
82	Glycerolipid metabolism_Homo sapiens_hsa00561	0.36541068
83	Calcium signaling pathway_Homo sapiens_hsa04020	0.36114070
84	Steroid biosynthesis_Homo sapiens_hsa00100	0.34915975
85	Retinol metabolism_Homo sapiens_hsa00830	0.33628801
86	Complement and coagulation cascades_Homo sapiens_hsa04610	0.33509623
87	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.32579223
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.32353940
89	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.31756018
90	Glutamatergic synapse_Homo sapiens_hsa04724	0.30346726
91	Nucleotide excision repair_Homo sapiens_hsa03420	0.29593899
92	Lysine degradation_Homo sapiens_hsa00310	0.28875564
93	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.27881923
94	Chemical carcinogenesis_Homo sapiens_hsa05204	0.27193796
95	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.26205948
96	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.25965666
97	Linoleic acid metabolism_Homo sapiens_hsa00591	0.24963312
98	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.24844914
99	Regulation of autophagy_Homo sapiens_hsa04140	0.24398281
100	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.24015765

BTBD10P2

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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