ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	lipopolysaccharide biosynthetic process (GO:0009103)	9.67515130
2	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	9.40966794
3	protein-chromophore linkage (GO:0018298)	8.64927761
4	DNA methylation involved in gamete generation (GO:0043046)	8.58214651
5	lipopolysaccharide metabolic process (GO:0008653)	8.42061365
6	negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)	7.94984119
7	negative regulation of glycoprotein biosynthetic process (GO:0010561)	7.63562561
8	regulation of meiosis I (GO:0060631)	7.59020938
9	sulfate transmembrane transport (GO:1902358)	7.54941361
10	positive regulation of developmental pigmentation (GO:0048087)	7.54564234
11	regulation of pigment cell differentiation (GO:0050932)	7.50492249
12	paraxial mesoderm development (GO:0048339)	7.36812302
13	negative regulation of cell cycle G2/M phase transition (GO:1902750)	7.15858838
14	regulation of protein glycosylation (GO:0060049)	7.13530698
15	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	6.96198552
16	sulfate transport (GO:0008272)	6.49018574
17	tyrosine metabolic process (GO:0006570)	6.18122821
18	piRNA metabolic process (GO:0034587)	5.95215817
19	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	5.93114867
20	L-phenylalanine catabolic process (GO:0006559)	5.93114867
21	notochord development (GO:0030903)	5.89059701
22	SMAD protein complex assembly (GO:0007183)	5.77801400
23	negative regulation of glycoprotein metabolic process (GO:1903019)	5.59574796
24	L-phenylalanine metabolic process (GO:0006558)	5.19774451
25	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	5.19774451
26	heme transport (GO:0015886)	5.10758251
27	ribonucleoprotein complex disassembly (GO:0032988)	4.91752721
28	meiotic chromosome segregation (GO:0045132)	4.85555019
29	nodal signaling pathway (GO:0038092)	4.80352898
30	regulation of transforming growth factor beta2 production (GO:0032909)	4.72015442
31	negative regulation of stem cell proliferation (GO:2000647)	4.60605833
32	regulation of odontogenesis (GO:0042481)	4.50717964
33	germinal center formation (GO:0002467)	4.45476879
34	vitamin transmembrane transport (GO:0035461)	4.33166633
35	centriole replication (GO:0007099)	4.29275725
36	DNA damage induced protein phosphorylation (GO:0006975)	4.29241989
37	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.27336143
38	regulation of interleukin-5 production (GO:0032674)	4.26835404
39	serotonin receptor signaling pathway (GO:0007210)	4.20796198
40	positive regulation of meiosis (GO:0045836)	4.14920257
41	embryonic process involved in female pregnancy (GO:0060136)	4.07679083
42	cellular response to gamma radiation (GO:0071480)	4.01462791
43	glycerol metabolic process (GO:0006071)	3.95920302
44	response to mercury ion (GO:0046689)	3.95320084
45	protein retention in ER lumen (GO:0006621)	3.93185780
46	organelle disassembly (GO:1903008)	3.89854689
47	positive regulation of meiotic cell cycle (GO:0051446)	3.83386962
48	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.80685961
49	positive regulation of SMAD protein import into nucleus (GO:0060391)	3.79152497
50	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.75190736
51	regulation of developmental pigmentation (GO:0048070)	3.73626877
52	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	3.71799911
53	sulfur compound transport (GO:0072348)	3.66778869
54	negative regulation of cell-matrix adhesion (GO:0001953)	3.64859209
55	response to epinephrine (GO:0071871)	3.64478832
56	pantothenate metabolic process (GO:0015939)	3.59008667
57	negative regulation of neural precursor cell proliferation (GO:2000178)	3.58622140
58	alditol metabolic process (GO:0019400)	3.56509650
59	iron coordination entity transport (GO:1901678)	3.55984545
60	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	3.53396796
61	heart valve formation (GO:0003188)	3.52470219
62	flavonoid metabolic process (GO:0009812)	3.52304843
63	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.43058426
64	inflammatory response to antigenic stimulus (GO:0002437)	3.41505523
65	aromatic amino acid family catabolic process (GO:0009074)	3.40194647
66	rhodopsin mediated signaling pathway (GO:0016056)	3.38870740
67	regulation of translational termination (GO:0006449)	3.35363226
68	polyol biosynthetic process (GO:0046173)	3.34986407
69	biotin metabolic process (GO:0006768)	3.33880275
70	aromatic amino acid family metabolic process (GO:0009072)	3.30450133
71	tachykinin receptor signaling pathway (GO:0007217)	3.20493706
72	regulation of hair follicle development (GO:0051797)	3.19217528
73	sympathetic nervous system development (GO:0048485)	3.18432130
74	aspartate family amino acid catabolic process (GO:0009068)	3.17849136
75	DNA alkylation (GO:0006305)	3.16523947
76	DNA methylation (GO:0006306)	3.16523947
77	uterus development (GO:0060065)	3.16364761
78	organ induction (GO:0001759)	3.14827824
79	toxin metabolic process (GO:0009404)	3.13585775
80	protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	3.11849391
81	regulation of keratinocyte proliferation (GO:0010837)	3.09504340
82	urate metabolic process (GO:0046415)	3.07374275
83	regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	3.04642807
84	positive regulation of fatty acid oxidation (GO:0046321)	2.99897026
85	lysine metabolic process (GO:0006553)	2.92956862
86	lysine catabolic process (GO:0006554)	2.92956862
87	centriole assembly (GO:0098534)	2.92673973
88	cofactor transport (GO:0051181)	2.91819434
89	membrane lipid biosynthetic process (GO:0046467)	2.87885853
90	negative regulation of BMP signaling pathway (GO:0030514)	2.86790091
91	regulation of SMAD protein import into nucleus (GO:0060390)	2.84627489
92	sphingolipid biosynthetic process (GO:0030148)	2.84052619
93	somite rostral/caudal axis specification (GO:0032525)	2.77460808
94	oogenesis (GO:0048477)	2.75694936
95	regulation of metanephros development (GO:0072215)	2.74603479
96	lipid phosphorylation (GO:0046834)	2.72017649
97	embryonic skeletal joint morphogenesis (GO:0060272)	2.71324854
98	sphingosine metabolic process (GO:0006670)	18.0086667
99	diol metabolic process (GO:0034311)	16.2666921
100	sphingoid metabolic process (GO:0046519)	14.3880609

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	AR_21572438_ChIP-Seq_LNCaP_Human	5.90668175
2	IGF1R_20145208_ChIP-Seq_DFB_Human	5.32108896
3	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	4.22796433
4	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.85296773
5	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	3.56606376
6	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	3.27561315
7	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.75244909
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.70871816
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.52246806
10	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	2.30776657
11	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	2.28920397
12	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.11036272
13	P300_19829295_ChIP-Seq_ESCs_Human	2.06654643
14	ER_23166858_ChIP-Seq_MCF-7_Human	1.97683128
15	HOXB7_26014856_ChIP-Seq_BT474_Human	1.91991735
16	STAT1_20625510_ChIP-Seq_HELA_Human	1.90639487
17	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.90366119
18	EGR1_19032775_ChIP-ChIP_M12_Human	1.89339220
19	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.82890783
20	NANOG_19829295_ChIP-Seq_ESCs_Human	1.77169282
21	SOX2_19829295_ChIP-Seq_ESCs_Human	1.77169282
22	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.76447556
23	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.75776105
24	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.75137875
25	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.74214046
26	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.73064925
27	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.73064925
28	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.72402396
29	GBX2_23144817_ChIP-Seq_PC3_Human	1.71437032
30	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.69656483
31	ZNF274_21170338_ChIP-Seq_K562_Hela	1.67221033
32	STAT3_18555785_ChIP-Seq_MESCs_Mouse	1.66259483
33	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.56138892
34	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.53889770
35	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.53425617
36	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.50520036
37	OCT4_20526341_ChIP-Seq_ESCs_Human	1.49899603
38	STAT3_23295773_ChIP-Seq_U87_Human	1.46895367
39	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.42158298
40	TCF4_23295773_ChIP-Seq_U87_Human	1.42013495
41	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.41729499
42	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.41298497
43	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.40282280
44	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.39746744
45	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.33941193
46	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.31330603
47	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30629751
48	AR_25329375_ChIP-Seq_VCAP_Human	1.30286105
49	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.29692253
50	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.29010009
51	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.28939934
52	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.28176567
53	TP53_18474530_ChIP-ChIP_U2OS_Human	1.24956582
54	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.23826827
55	AR_19668381_ChIP-Seq_PC3_Human	1.23276538
56	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.21476319
57	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.21286722
58	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	1.20192500
59	TP53_16413492_ChIP-PET_HCT116_Human	1.18943774
60	NCOR_22424771_ChIP-Seq_293T_Human	1.17578413
61	CEBPB_22108803_ChIP-Seq_LS180_Human	1.16126814
62	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.14919461
63	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.14855286
64	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.12212140
65	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.10574707
66	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09560179
67	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.09205733
68	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.07890642
69	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.05604120
70	STAT1_17558387_ChIP-Seq_HELA_Human	1.05353565
71	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.03770649
72	P53_21459846_ChIP-Seq_SAOS-2_Human	1.03164002
73	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.02709458
74	SCL_19346495_ChIP-Seq_HPC-7_Human	1.02440760
75	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.01942044
76	TCF4_22108803_ChIP-Seq_LS180_Human	1.00112602
77	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.00002043
78	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.99929047
79	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.98864875
80	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.98020289
81	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.97136138
82	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.97068352
83	RAC3_21632823_ChIP-Seq_H3396_Human	0.96805301
84	LUZP1_20508642_ChIP-Seq_ESCs_Mouse	0.96545942
85	SOX2_18555785_ChIP-Seq_MESCs_Mouse	0.95857646
86	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.95021156
87	CJUN_26792858_Chip-Seq_BT549_Human	0.94605986
88	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.93197103
89	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.93197103
90	TP63_23658742_ChIP-Seq_EP156T_Human	0.93135783
91	SPI1_20517297_ChIP-Seq_HL60_Human	0.92895928
92	CDX2_22108803_ChIP-Seq_LS180_Human	0.92512873
93	P63_26484246_Chip-Seq_KERATINOCYTES_Human	0.92022903
94	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.91787252
95	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.91757704
96	SMAD4_21799915_ChIP-Seq_A2780_Human	0.90677870
97	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.90594704
98	NANOG_18692474_ChIP-Seq_MESCs_Mouse	0.90296940
99	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.89833939
100	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.89336467

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	9.28831126
2	MP0005171_absent_coat_pigmentation	8.26553975
3	MP0003136_yellow_coat_color	7.83146768
4	MP0002653_abnormal_ependyma_morphology	5.60439317
5	MP0003045_fibrosis	4.53709191
6	MP0003890_abnormal_embryonic-extraembry	4.51645265
7	MP0003646_muscle_fatigue	4.07034560
8	MP0000569_abnormal_digit_pigmentation	3.28950594
9	MP0003879_abnormal_hair_cell	3.23032614
10	MP0004381_abnormal_hair_follicle	3.13394391
11	MP0003705_abnormal_hypodermis_morpholog	2.39879297
12	MP0002138_abnormal_hepatobiliary_system	2.27765943
13	MP0005085_abnormal_gallbladder_physiolo	2.19291072
14	MP0002168_other_aberrant_phenotype	2.04182961
15	MP0005670_abnormal_white_adipose	2.02535562
16	MP0003195_calcinosis	2.01442807
17	MP0000749_muscle_degeneration	1.97638419
18	MP0005075_abnormal_melanosome_morpholog	1.96444490
19	MP0010352_gastrointestinal_tract_polyps	1.89273534
20	MP0002938_white_spotting	1.83237315
21	MP0004147_increased_porphyrin_level	1.72789984
22	MP0004233_abnormal_muscle_weight	1.53109074
23	MP0005365_abnormal_bile_salt	1.35044472
24	MP0002075_abnormal_coat/hair_pigmentati	1.34471177
25	MP0002095_abnormal_skin_pigmentation	1.29183935
26	MP0002160_abnormal_reproductive_system	1.27934878
27	MP0005395_other_phenotype	1.24043758
28	MP0005174_abnormal_tail_pigmentation	1.15898253
29	MP0005076_abnormal_cell_differentiation	1.03850325
30	MP0001186_pigmentation_phenotype	0.95663266
31	MP0002269_muscular_atrophy	0.95313108
32	MP0003137_abnormal_impulse_conducting	0.90437163
33	MP0000427_abnormal_hair_cycle	0.85440049
34	MP0002396_abnormal_hematopoietic_system	0.85344111
35	MP0005330_cardiomyopathy	0.83553640
36	MP0006054_spinal_hemorrhage	0.82885107
37	MP0003950_abnormal_plasma_membrane	0.74768984
38	MP0003252_abnormal_bile_duct	0.73246214
39	MP0000015_abnormal_ear_pigmentation	0.73180537
40	MP0001324_abnormal_eye_pigmentation	0.64982202
41	MP0004043_abnormal_pH_regulation	0.63150410
42	MP0002332_abnormal_exercise_endurance	0.61905539
43	MP0003300_gastrointestinal_ulcer	0.60680276
44	MP0002735_abnormal_chemical_nociception	0.59990960
45	MP0000534_abnormal_ureter_morphology	0.59508828
46	MP0008770_decreased_survivor_rate	0.59389839
47	MP0002254_reproductive_system_inflammat	0.59052325
48	MP0005319_abnormal_enzyme/_coenzyme	0.57607160
49	MP0001661_extended_life_span	0.55716564
50	MP0001501_abnormal_sleep_pattern	0.55653520
51	MP0005389_reproductive_system_phenotype	0.51588224
52	MP0002009_preneoplasia	0.51041649
53	MP0002971_abnormal_brown_adipose	0.50178941
54	MP0009115_abnormal_fat_cell	0.48363831
55	MP0000372_irregular_coat_pigmentation	0.48291908
56	MP0008057_abnormal_DNA_replication	0.46884827
57	MP0010307_abnormal_tumor_latency	0.45331513
58	MP0009764_decreased_sensitivity_to	0.43507725
59	MP0003959_abnormal_lean_body	0.42979246
60	MP0004484_altered_response_of	0.41741669
61	MP0003878_abnormal_ear_physiology	0.41149616
62	MP0005377_hearing/vestibular/ear_phenot	0.41149616
63	MP0008569_lethality_at_weaning	0.35721205
64	MP0008932_abnormal_embryonic_tissue	0.35507787
65	MP0003937_abnormal_limbs/digits/tail_de	0.32822518
66	MP0000377_abnormal_hair_follicle	0.32668915
67	MP0003763_abnormal_thymus_physiology	0.32459835
68	MP0005410_abnormal_fertilization	0.32155182
69	MP0002876_abnormal_thyroid_physiology	0.32083908
70	MP0004957_abnormal_blastocyst_morpholog	0.30854022
71	MP0001486_abnormal_startle_reflex	0.29619002
72	MP0005083_abnormal_biliary_tract	0.28371902
73	MP0000470_abnormal_stomach_morphology	0.28186171
74	MP0005266_abnormal_metabolism	0.27046186
75	MP0005451_abnormal_body_composition	0.26209315
76	MP0004130_abnormal_muscle_cell	0.25801676
77	MP0010094_abnormal_chromosome_stability	0.25530678
78	MP0005646_abnormal_pituitary_gland	0.25508314
79	MP0008874_decreased_physiological_sensi	0.25390712
80	MP0002751_abnormal_autonomic_nervous	0.25307904
81	MP0009278_abnormal_bone_marrow	0.25085716
82	MP0000367_abnormal_coat/_hair	0.25022763
83	MP0001800_abnormal_humoral_immune	0.24696531
84	MP0003111_abnormal_nucleus_morphology	0.24693243
85	MP0002928_abnormal_bile_duct	0.24636270
86	MP0003632_abnormal_nervous_system	0.23980604
87	MP0005551_abnormal_eye_electrophysiolog	0.23918933
88	MP0000383_abnormal_hair_follicle	0.23307969
89	MP0002060_abnormal_skin_morphology	0.21751752
90	MP0002272_abnormal_nervous_system	0.21064480
91	MP0001984_abnormal_olfaction	0.20902071
92	MP0003385_abnormal_body_wall	0.20900614
93	MP0001970_abnormal_pain_threshold	0.20856467
94	MP0002229_neurodegeneration	0.19963460
95	MP0002106_abnormal_muscle_physiology	0.19789448
96	MP0008872_abnormal_physiological_respon	0.18705770
97	MP0001986_abnormal_taste_sensitivity	0.18105108
98	MP0000026_abnormal_inner_ear	0.17276610
99	MP0000432_abnormal_head_morphology	0.16252504
100	MP0003718_maternal_effect	0.16098971

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Focal motor seizures (HP:0011153)	9.08785992
2	Acanthocytosis (HP:0001927)	7.70458011
3	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	7.57528738
4	Parakeratosis (HP:0001036)	7.17391641
5	Aplastic anemia (HP:0001915)	6.40599515
6	Spontaneous hematomas (HP:0007420)	5.29433510
7	Proximal amyotrophy (HP:0007126)	4.69179011
8	Vertebral arch anomaly (HP:0008438)	4.52466537
9	Colon cancer (HP:0003003)	4.50792857
10	Dialeptic seizures (HP:0011146)	4.49186578
11	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.45415861
12	Rectal prolapse (HP:0002035)	4.44440998
13	Aplasia/Hypoplasia of the uvula (HP:0010293)	4.32196328
14	Congenital ichthyosiform erythroderma (HP:0007431)	4.21252754
15	Hematochezia (HP:0002573)	4.07736747
16	Scapular winging (HP:0003691)	3.96556843
17	Ulnar bowing (HP:0003031)	3.89081176
18	Difficulty walking (HP:0002355)	3.81753751
19	Erythroderma (HP:0001019)	3.63280921
20	Esophageal varix (HP:0002040)	3.45733654
21	Overlapping toe (HP:0001845)	3.43721070
22	Broad ribs (HP:0000885)	3.43105290
23	Focal seizures (HP:0007359)	3.31935948
24	Conjunctival telangiectasia (HP:0000524)	3.28658732
25	Poikilocytosis (HP:0004447)	3.24412070
26	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.22157499
27	Ulnar claw (HP:0001178)	3.20310718
28	Radial bowing (HP:0002986)	3.18127149
29	Pancreatic cysts (HP:0001737)	3.17831029
30	Potter facies (HP:0002009)	3.01846399
31	Facial shape deformation (HP:0011334)	3.01846399
32	Enlarged kidneys (HP:0000105)	3.01746009
33	Pendular nystagmus (HP:0012043)	3.01557269
34	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	3.01365579
35	Bilateral sensorineural hearing impairment (HP:0008619)	2.99843749
36	IgM deficiency (HP:0002850)	2.92811615
37	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.91931168
38	Chronic diarrhea (HP:0002028)	2.76924539
39	Synostosis of carpal bones (HP:0005048)	2.67727108
40	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.59733759
41	Abnormality of the vocal cords (HP:0008777)	2.50103729
42	Autoimmune hemolytic anemia (HP:0001890)	2.49831119
43	Tarsal synostosis (HP:0008368)	2.47716381
44	Type I transferrin isoform profile (HP:0003642)	2.46652888
45	Chromsome breakage (HP:0040012)	2.44706152
46	Abnormality of the renal cortex (HP:0011035)	2.41667660
47	Progressive inability to walk (HP:0002505)	2.39434521
48	Portal hypertension (HP:0001409)	2.37343442
49	Cerebellar dysplasia (HP:0007033)	2.37201241
50	Severe visual impairment (HP:0001141)	2.37171177
51	Petechiae (HP:0000967)	2.36152150
52	Synostosis involving bones of the lower limbs (HP:0009138)	2.27513542
53	Synostosis involving bones of the feet (HP:0009140)	2.27513542
54	Lack of skin elasticity (HP:0100679)	2.27251926
55	Abnormality of the shoulder girdle musculature (HP:0001435)	2.27146796
56	Hypoplastic iliac wings (HP:0002866)	2.25281739
57	Abnormality of the hepatic vasculature (HP:0006707)	2.23945273
58	Gangrene (HP:0100758)	2.22245445
59	Bowing of the arm (HP:0006488)	2.19683565
60	Bowed forearm bones (HP:0003956)	2.19683565
61	Decreased circulating renin level (HP:0003351)	2.19533819
62	Colitis (HP:0002583)	2.19213479
63	Dehydration (HP:0001944)	2.14386527
64	Peripheral hypomyelination (HP:0007182)	2.12639384
65	Carpal synostosis (HP:0009702)	2.07357340
66	Opisthotonus (HP:0002179)	2.07094634
67	Thickened calvaria (HP:0002684)	2.06256178
68	Microvesicular hepatic steatosis (HP:0001414)	2.02209265
69	Abnormality of the renal medulla (HP:0100957)	2.01416161
70	Abnormal albumin level (HP:0012116)	2.01312604
71	Hypoalbuminemia (HP:0003073)	2.01312604
72	Amelogenesis imperfecta (HP:0000705)	10.5414985
73	Hypokalemia (HP:0002900)	1.99168022
74	Albinism (HP:0001022)	1.95377828
75	IgA deficiency (HP:0002720)	1.91178061
76	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.88151887
77	Tubular atrophy (HP:0000092)	1.86495010
78	Neoplasm of the small intestine (HP:0100833)	1.85792854
79	Hemangiomatosis (HP:0007461)	1.83512077
80	Visceral angiomatosis (HP:0100761)	1.83286247
81	Abnormality of potassium homeostasis (HP:0011042)	1.83273835
82	Gastrointestinal stroma tumor (HP:0100723)	1.83141619
83	Recurrent sinusitis (HP:0011108)	1.82940386
84	Right ventricular cardiomyopathy (HP:0011663)	1.82635281
85	Aortic valve stenosis (HP:0001650)	1.81409507
86	Palmoplantar keratoderma (HP:0000982)	1.77822783
87	Pancytopenia (HP:0001876)	1.77087188
88	Stomach cancer (HP:0012126)	1.75226747
89	Abnormality of macular pigmentation (HP:0008002)	1.72875400
90	Neoplasm of the colon (HP:0100273)	1.72760357
91	Abnormality of the fingertips (HP:0001211)	1.70629154
92	Retinitis pigmentosa (HP:0000510)	1.70320871
93	Horizontal nystagmus (HP:0000666)	1.69012606
94	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.68584578
95	Tubulointerstitial fibrosis (HP:0005576)	1.67509848
96	Posterior embryotoxon (HP:0000627)	1.66497728
97	Synostosis involving bones of the hand (HP:0004278)	1.65555249
98	Abnormal protein N-linked glycosylation (HP:0012347)	1.61306092
99	Abnormal protein glycosylation (HP:0012346)	1.61306092
100	Abnormal glycosylation (HP:0012345)	1.61306092

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK38L	7.14163114
2	LATS2	6.91235245
3	PRKD3	2.98485615
4	ZAK	2.96500561
5	STK38	2.63388618
6	ACVR1B	2.50265098
7	NLK	2.32254639
8	MAP2K2	2.30001750
9	MELK	2.12557486
10	STK3	2.10639144
11	LATS1	10.9170781
12	FRK	1.99691144
13	BMPR1B	1.62739445
14	IRAK3	1.38710010
15	TAF1	1.27648818
16	EIF2AK3	1.18009725
17	NEK2	1.16089539
18	MAP3K2	1.09407963
19	PRKAA2	1.06064115
20	PDPK1	1.02411400
21	KSR2	0.98111601
22	PIK3CG	0.85861226
23	TGFBR1	0.79404919
24	CSNK1A1L	0.75531235
25	GRK7	0.74927549
26	TGFBR2	0.63402965
27	TTK	0.59562762
28	PRKD1	0.56593314
29	NME1	0.55389762
30	NEK9	0.51883674
31	MAP2K1	0.48135455
32	ADRBK1	0.47878905
33	WNK4	0.45917415
34	MOS	0.44655816
35	PIM1	0.44136979
36	MST1R	0.40013414
37	PINK1	0.38821705
38	STK10	0.37729010
39	ADRBK2	0.37321534
40	CAMK1D	0.36710066
41	TAOK3	0.33292362
42	STK39	0.32965773
43	TNK2	0.28862352
44	CHEK2	0.28678264
45	DAPK2	0.26301464
46	GRK5	0.26295657
47	STK11	0.25651975
48	PLK1	0.24156671
49	TEC	0.22702891
50	PRKCI	0.20231674
51	EIF2AK2	0.19989030
52	CSNK1D	0.18084675
53	ITK	0.15891075
54	EEF2K	0.15422299
55	PDGFRA	0.13594904
56	MAPK3	0.12272343
57	AKT2	0.12227330
58	ABL1	0.11780976
59	OXSR1	0.10849521
60	ATR	0.09272752
61	MAP3K1	0.09119282
62	TIE1	0.08684169
63	MAPK1	0.08028491
64	NEK1	0.07772309
65	MAP3K7	0.07729885
66	NEK6	0.07007294
67	FER	0.06448144
68	CAMK1G	0.05553122
69	MET	0.04887810
70	MAP3K8	0.04879010
71	JAK2	0.03627410
72	TXK	0.03141045
73	TLK1	0.02444380
74	MAP3K13	0.02345390
75	CDK3	0.01920267
76	PIM2	0.01874993
77	WNK1	0.01429143
78	BTK	0.00934557
79	MKNK2	0.00790747
80	AKT1	0.00389713
81	PRKCE	-0.0730990
82	PRKG2	-0.0691261
83	PLK3	-0.0688537
84	PDK2	-0.0537070
85	GSK3B	-0.0493342
86	CDK1	-0.0481424
87	CDK2	-0.0441276
88	PDK1	-0.0437405
89	ATM	-0.0383257
90	CAMK2B	-0.0362150
91	CDK12	-0.0345868
92	MAPK7	-0.0334631
93	CHUK	-0.0306717
94	PRKACB	-0.0211493
95	RET	-0.0209323
96	PRKACA	-0.0180071
97	EPHA2	-0.0098868
98	CDK4	-0.0063739
99	MAPK8	-0.0055088
100	ICK	-0.0024251

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	9.16293170
2	Sphingolipid metabolism_Homo sapiens_hsa00600	4.20442619
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	4.20209656
4	Phototransduction_Homo sapiens_hsa04744	4.16609907
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.40359124
6	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.77495801
7	N-Glycan biosynthesis_Homo sapiens_hsa00510	2.33400321
8	Nicotine addiction_Homo sapiens_hsa05033	2.28971019
9	Phenylalanine metabolism_Homo sapiens_hsa00360	2.20491326
10	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.99693848
11	Taste transduction_Homo sapiens_hsa04742	1.89379636
12	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.75947038
13	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.70650836
14	One carbon pool by folate_Homo sapiens_hsa00670	1.63350649
15	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.53895779
16	Morphine addiction_Homo sapiens_hsa05032	1.52082577
17	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.50802131
18	Histidine metabolism_Homo sapiens_hsa00340	1.23005343
19	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.18859463
20	Sphingolipid signaling pathway_Homo sapiens_hsa04071	1.11561533
21	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.06507171
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.03694281
23	VEGF signaling pathway_Homo sapiens_hsa04370	1.02164779
24	Calcium signaling pathway_Homo sapiens_hsa04020	1.01559559
25	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.98933505
26	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.98788226
27	GABAergic synapse_Homo sapiens_hsa04727	0.98706292
28	Viral myocarditis_Homo sapiens_hsa05416	0.97792411
29	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.94293652
30	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.91743806
31	ABC transporters_Homo sapiens_hsa02010	0.87139330
32	Tyrosine metabolism_Homo sapiens_hsa00350	0.82111672
33	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.81540433
34	Adherens junction_Homo sapiens_hsa04520	0.81312456
35	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.80950413
36	Thyroid cancer_Homo sapiens_hsa05216	0.79733576
37	Nitrogen metabolism_Homo sapiens_hsa00910	0.79358492
38	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.78684217
39	ECM-receptor interaction_Homo sapiens_hsa04512	0.76808544
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.75766001
41	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.73103424
42	Lysine degradation_Homo sapiens_hsa00310	0.70877254
43	Cell cycle_Homo sapiens_hsa04110	0.70540791
44	Basal transcription factors_Homo sapiens_hsa03022	0.68909129
45	Colorectal cancer_Homo sapiens_hsa05210	0.68774929
46	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.68345779
47	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.66157288
48	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.64657993
49	Glycerolipid metabolism_Homo sapiens_hsa00561	0.62724922
50	Bile secretion_Homo sapiens_hsa04976	0.61453246
51	Pyruvate metabolism_Homo sapiens_hsa00620	0.58959694
52	Glutamatergic synapse_Homo sapiens_hsa04724	0.58655906
53	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.58272566
54	Hippo signaling pathway_Homo sapiens_hsa04390	0.56901736
55	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.53100022
56	Pancreatic cancer_Homo sapiens_hsa05212	0.51446775
57	Sulfur relay system_Homo sapiens_hsa04122	0.49053520
58	Homologous recombination_Homo sapiens_hsa03440	0.47257425
59	Serotonergic synapse_Homo sapiens_hsa04726	0.46859050
60	Fatty acid degradation_Homo sapiens_hsa00071	0.44937779
61	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.43011476
62	cAMP signaling pathway_Homo sapiens_hsa04024	0.39039732
63	Fanconi anemia pathway_Homo sapiens_hsa03460	0.38988653
64	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.38119875
65	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.37659876
66	Selenocompound metabolism_Homo sapiens_hsa00450	0.36131726
67	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.35694853
68	Butanoate metabolism_Homo sapiens_hsa00650	0.34922089
69	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.31683366
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.31217082
71	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.30308696
72	Tuberculosis_Homo sapiens_hsa05152	0.29395931
73	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.28877796
74	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.27977893
75	Melanogenesis_Homo sapiens_hsa04916	0.27836838
76	Arginine and proline metabolism_Homo sapiens_hsa00330	0.27698593
77	Basal cell carcinoma_Homo sapiens_hsa05217	0.27328941
78	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.26705109
79	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.26240216
80	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.26183221
81	Folate biosynthesis_Homo sapiens_hsa00790	0.23240338
82	African trypanosomiasis_Homo sapiens_hsa05143	0.21791014
83	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.19452552
84	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.18893529
85	Oocyte meiosis_Homo sapiens_hsa04114	0.18412941
86	Olfactory transduction_Homo sapiens_hsa04740	0.15684796
87	Salivary secretion_Homo sapiens_hsa04970	0.14887861
88	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.14631151
89	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.14403297
90	Estrogen signaling pathway_Homo sapiens_hsa04915	0.13283669
91	Metabolic pathways_Homo sapiens_hsa01100	0.13213975
92	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.12201191
93	Non-homologous end-joining_Homo sapiens_hsa03450	0.10354858
94	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.09966032
95	Retinol metabolism_Homo sapiens_hsa00830	0.08541227
96	Type II diabetes mellitus_Homo sapiens_hsa04930	0.07878357
97	Galactose metabolism_Homo sapiens_hsa00052	0.07794599
98	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.07649898
99	MicroRNAs in cancer_Homo sapiens_hsa05206	0.06262719
100	Acute myeloid leukemia_Homo sapiens_hsa05221	0.05428027

TUBB8P1

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)

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