ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	fucose catabolic process (GO:0019317)	5.83006355
2	L-fucose metabolic process (GO:0042354)	5.83006355
3	L-fucose catabolic process (GO:0042355)	5.83006355
4	presynaptic membrane organization (GO:0097090)	5.21967344
5	sulfation (GO:0051923)	4.84824267
6	adaptation of signaling pathway (GO:0023058)	4.64774142
7	otic vesicle formation (GO:0030916)	4.49158334
8	glycosphingolipid biosynthetic process (GO:0006688)	4.43655895
9	pyrimidine ribonucleoside catabolic process (GO:0046133)	4.20858930
10	cellular response to interleukin-15 (GO:0071350)	4.09180907
11	regulation of pigment cell differentiation (GO:0050932)	4.07625715
12	endothelial cell proliferation (GO:0001935)	4.06585414
13	positive regulation of developmental pigmentation (GO:0048087)	3.90139768
14	righting reflex (GO:0060013)	3.85838271
15	pathway-restricted SMAD protein phosphorylation (GO:0060389)	3.83584025
16	positive regulation of amino acid transport (GO:0051957)	3.80645685
17	positive regulation of gamma-delta T cell activation (GO:0046645)	3.80397741
18	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.61427216
19	phosphatidylcholine biosynthetic process (GO:0006656)	3.60581033
20	locomotory exploration behavior (GO:0035641)	3.55687666
21	positive regulation of myoblast differentiation (GO:0045663)	3.55554902
22	regulation of T cell receptor signaling pathway (GO:0050856)	3.53361206
23	negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)	3.47544724
24	positive regulation of actin filament depolymerization (GO:0030836)	3.47217046
25	positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)	3.45346215
26	positive regulation of meiosis (GO:0045836)	3.44527790
27	nucleotide transmembrane transport (GO:1901679)	3.44047908
28	cytidine catabolic process (GO:0006216)	3.35386883
29	cytidine deamination (GO:0009972)	3.35386883
30	cytidine metabolic process (GO:0046087)	3.35386883
31	platelet dense granule organization (GO:0060155)	3.31080990
32	extracellular fibril organization (GO:0043206)	3.30167946
33	neural tube formation (GO:0001841)	3.28765847
34	positive regulation of uterine smooth muscle contraction (GO:0070474)	3.28650440
35	eosinophil chemotaxis (GO:0048245)	3.27242695
36	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	3.26142197
37	dermatan sulfate biosynthetic process (GO:0030208)	3.21825803
38	regulation of antigen receptor-mediated signaling pathway (GO:0050854)	3.20677959
39	response to gravity (GO:0009629)	3.17734177
40	positive regulation of meiotic cell cycle (GO:0051446)	3.16537687
41	xenobiotic catabolic process (GO:0042178)	3.14987597
42	negative regulation of mast cell activation (GO:0033004)	3.11978502
43	DNA deamination (GO:0045006)	3.11254306
44	regulation of branching involved in prostate gland morphogenesis (GO:0060687)	3.09271947
45	organelle membrane fusion (GO:0090174)	3.09054504
46	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	3.08748638
47	regulation of uterine smooth muscle contraction (GO:0070472)	3.07540502
48	sequestering of actin monomers (GO:0042989)	3.05805207
49	negative regulation of smooth muscle contraction (GO:0045986)	3.04833967
50	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.00991264
51	regulation of mitotic spindle checkpoint (GO:1903504)	3.00991264
52	glycolipid biosynthetic process (GO:0009247)	3.00054608
53	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	2.99799115
54	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	2.96849835
55	negative regulation of nitric-oxide synthase activity (GO:0051001)	2.96078818
56	glucosamine-containing compound catabolic process (GO:1901072)	2.92792681
57	eosinophil migration (GO:0072677)	2.92679000
58	dendritic spine morphogenesis (GO:0060997)	2.90579657
59	inositol phosphate catabolic process (GO:0071545)	2.89324732
60	regulation of gamma-delta T cell differentiation (GO:0045586)	2.81959923
61	protein maturation by protein folding (GO:0022417)	2.81572419
62	estrogen biosynthetic process (GO:0006703)	2.81139826
63	mesonephros development (GO:0001823)	2.80204996
64	adenosine metabolic process (GO:0046085)	2.77480884
65	relaxation of smooth muscle (GO:0044557)	2.76545267
66	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.76185100
67	regulation of metalloenzyme activity (GO:0048552)	2.75133167
68	regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	2.74573175
69	pharyngeal system development (GO:0060037)	2.73715426
70	dermatan sulfate metabolic process (GO:0030205)	2.71960616
71	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	2.70681498
72	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.69570922
73	regulation of interleukin-1 beta secretion (GO:0050706)	2.69367906
74	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.66876033
75	regulation of developmental pigmentation (GO:0048070)	2.65277968
76	sodium-independent organic anion transport (GO:0043252)	2.63741434
77	regulation of gamma-delta T cell activation (GO:0046643)	2.63216891
78	positive regulation of interleukin-1 beta secretion (GO:0050718)	2.62108755
79	negative regulation of T cell receptor signaling pathway (GO:0050860)	2.60509415
80	activated T cell proliferation (GO:0050798)	2.60192174
81	cellular defense response (GO:0006968)	2.59157117
82	positive regulation of pseudopodium assembly (GO:0031274)	2.55360572
83	glutamate receptor signaling pathway (GO:0007215)	2.54348021
84	fucose metabolic process (GO:0006004)	2.53248505
85	fucosylation (GO:0036065)	2.51949299
86	chemosensory behavior (GO:0007635)	2.51244035
87	galactose catabolic process (GO:0019388)	2.48660094
88	proteasome assembly (GO:0043248)	2.48554764
89	glucosamine-containing compound metabolic process (GO:1901071)	2.48114758
90	autophagic vacuole fusion (GO:0000046)	2.48105403
91	positive regulation of vasculogenesis (GO:2001214)	2.47592547
92	positive regulation of interleukin-1 secretion (GO:0050716)	2.47263142
93	regulation of transmission of nerve impulse (GO:0051969)	2.46790670
94	branching involved in prostate gland morphogenesis (GO:0060442)	2.44468174
95	glandular epithelial cell differentiation (GO:0002067)	2.43453083
96	regulation of B cell receptor signaling pathway (GO:0050855)	2.41803825
97	positive regulation of cell cycle checkpoint (GO:1901978)	2.41560922
98	S-adenosylmethionine metabolic process (GO:0046500)	2.41021379
99	regulation of interleukin-1 secretion (GO:0050704)	2.39884174
100	beta-amyloid metabolic process (GO:0050435)	2.38084406

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	4.54938144
2	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.90627774
3	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.64550490
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.62606393
5	VDR_22108803_ChIP-Seq_LS180_Human	3.59029207
6	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	3.48528245
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.23252127
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.86272571
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.39615650
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.35830208
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.27418639
12	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.19807399
13	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.17782512
14	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.13262221
15	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.10420808
16	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	2.06980020
17	P300_19829295_ChIP-Seq_ESCs_Human	2.05734662
18	ZNF274_21170338_ChIP-Seq_K562_Hela	2.01476437
19	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.01381635
20	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.99102332
21	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.89239130
22	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.82057452
23	BCAT_22108803_ChIP-Seq_LS180_Human	1.79289655
24	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.75014897
25	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.73126909
26	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.71356699
27	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.67613408
28	ELK1_19687146_ChIP-ChIP_HELA_Human	1.65609715
29	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.63012294
30	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.53214030
31	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.52001220
32	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.51318569
33	SMAD4_21799915_ChIP-Seq_A2780_Human	1.47362183
34	AR_25329375_ChIP-Seq_VCAP_Human	1.44951105
35	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.44271039
36	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.42792073
37	EWS_26573619_Chip-Seq_HEK293_Human	1.42063968
38	NANOG_19829295_ChIP-Seq_ESCs_Human	1.39074430
39	SOX2_19829295_ChIP-Seq_ESCs_Human	1.39074430
40	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.34340929
41	FUS_26573619_Chip-Seq_HEK293_Human	1.31694633
42	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.31635948
43	MYB_26560356_Chip-Seq_TH2_Human	1.31555015
44	ER_23166858_ChIP-Seq_MCF-7_Human	1.30944372
45	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.29545627
46	CBP_21632823_ChIP-Seq_H3396_Human	1.27633733
47	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26793858
48	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.26379597
49	VDR_23849224_ChIP-Seq_CD4+_Human	1.26318004
50	IRF1_19129219_ChIP-ChIP_H3396_Human	1.23921614
51	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.23811564
52	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	1.23547024
53	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.23490913
54	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.22456209
55	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.22261843
56	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.22236920
57	P53_22387025_ChIP-Seq_ESCs_Mouse	1.20943710
58	TCF4_22108803_ChIP-Seq_LS180_Human	1.18168770
59	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17271088
60	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.16184991
61	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.15454398
62	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.15313901
63	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.13375965
64	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.10882796
65	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.10310370
66	STAT3_23295773_ChIP-Seq_U87_Human	1.08528404
67	P300_18555785_Chip-Seq_ESCs_Mouse	1.08111107
68	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.07747553
69	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.06587064
70	RXR_22108803_ChIP-Seq_LS180_Human	1.05755762
71	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05571527
72	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.05312853
73	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.05246262
74	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.04654625
75	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.04486717
76	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.04081449
77	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.04014532
78	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.03501124
79	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.02827442
80	AR_20517297_ChIP-Seq_VCAP_Human	1.02467276
81	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.02429377
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.02328175
83	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.01143584
84	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.00579175
85	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.00579175
86	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.00166905
87	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.99397102
88	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.99072170
89	TP53_16413492_ChIP-PET_HCT116_Human	0.98980260
90	GATA3_26560356_Chip-Seq_TH2_Human	0.97372924
91	TP53_18474530_ChIP-ChIP_U2OS_Human	0.96087643
92	SCL_19346495_ChIP-Seq_HPC-7_Human	0.96044116
93	VDR_24787735_ChIP-Seq_THP-1_Human	0.95521597
94	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.91201066
95	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.90405720
96	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.90001038
97	CJUN_26792858_Chip-Seq_BT549_Human	0.89301615
98	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.88455717
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.88328687
100	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.87502843

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005075_abnormal_melanosome_morpholog	4.86272906
2	MP0002822_catalepsy	3.85993076
3	MP0004381_abnormal_hair_follicle	3.58650868
4	MP0003136_yellow_coat_color	3.46826916
5	MP0004885_abnormal_endolymph	3.42715406
6	MP0002102_abnormal_ear_morphology	3.16399499
7	MP0000613_abnormal_salivary_gland	2.92432499
8	MP0009697_abnormal_copulation	2.86292796
9	MP0003011_delayed_dark_adaptation	2.78946994
10	MP0000569_abnormal_digit_pigmentation	2.77567499
11	MP0002163_abnormal_gland_morphology	2.61769624
12	MP0002736_abnormal_nociception_after	2.53811424
13	MP0006054_spinal_hemorrhage	2.51007967
14	MP0005171_absent_coat_pigmentation	2.49462753
15	MP0002837_dystrophic_cardiac_calcinosis	2.41059577
16	MP0005408_hypopigmentation	2.39246488
17	MP0002095_abnormal_skin_pigmentation	2.34473412
18	MP0002735_abnormal_chemical_nociception	2.32704945
19	MP0000049_abnormal_middle_ear	2.06597166
20	MP0001968_abnormal_touch/_nociception	2.04879999
21	MP0005084_abnormal_gallbladder_morpholo	2.00135852
22	MP0005253_abnormal_eye_physiology	1.86505776
23	MP0003283_abnormal_digestive_organ	1.79832582
24	MP0005083_abnormal_biliary_tract	1.75784082
25	MP0003806_abnormal_nucleotide_metabolis	1.75533686
26	MP0000372_irregular_coat_pigmentation	1.73288340
27	MP0003950_abnormal_plasma_membrane	1.71427350
28	MP0000015_abnormal_ear_pigmentation	1.65722844
29	MP0003880_abnormal_central_pattern	1.56818235
30	MP0008775_abnormal_heart_ventricle	1.52145521
31	MP0000427_abnormal_hair_cycle	1.50519637
32	MP0005623_abnormal_meninges_morphology	1.47247908
33	MP0002938_white_spotting	1.45632397
34	MP0005174_abnormal_tail_pigmentation	1.41269163
35	MP0000371_diluted_coat_color	1.34818438
36	MP0001440_abnormal_grooming_behavior	1.34715329
37	MP0002876_abnormal_thyroid_physiology	1.32524576
38	MP0009780_abnormal_chondrocyte_physiolo	1.29721645
39	MP0005551_abnormal_eye_electrophysiolog	1.27867823
40	MP0002282_abnormal_trachea_morphology	1.24340383
41	MP0006072_abnormal_retinal_apoptosis	1.22951925
42	MP0003045_fibrosis	1.22006466
43	MP0001986_abnormal_taste_sensitivity	1.17871550
44	MP0005379_endocrine/exocrine_gland_phen	1.15959002
45	MP0005451_abnormal_body_composition	1.15160443
46	MP0008872_abnormal_physiological_respon	1.14913005
47	MP0004142_abnormal_muscle_tone	1.11852024
48	MP0009745_abnormal_behavioral_response	1.11602876
49	MP0004742_abnormal_vestibular_system	1.10879523
50	MP0009250_abnormal_appendicular_skeleto	1.00211147
51	MP0009785_altered_susceptibility_to	0.96990562
52	MP0001905_abnormal_dopamine_level	0.96888255
53	MP0001243_abnormal_dermal_layer	0.96234644
54	MP0001800_abnormal_humoral_immune	0.95057069
55	MP0002723_abnormal_immune_serum	0.94347958
56	MP0004145_abnormal_muscle_electrophysio	0.93517865
57	MP0004134_abnormal_chest_morphology	0.92732556
58	MP0002420_abnormal_adaptive_immunity	0.91245728
59	MP0008961_abnormal_basal_metabolism	0.91217777
60	MP0003183_abnormal_peptide_metabolism	0.90070996
61	MP0002272_abnormal_nervous_system	0.88823273
62	MP0002148_abnormal_hypersensitivity_rea	0.88209632
63	MP0005410_abnormal_fertilization	0.87654462
64	MP0005367_renal/urinary_system_phenotyp	0.87324488
65	MP0000516_abnormal_urinary_system	0.87324488
66	MP0001346_abnormal_lacrimal_gland	0.85068128
67	MP0001819_abnormal_immune_cell	0.84679918
68	MP0001835_abnormal_antigen_presentation	0.84550849
69	MP0002177_abnormal_outer_ear	0.84377889
70	MP0003866_abnormal_defecation	0.83823845
71	MP0001764_abnormal_homeostasis	0.83655588
72	MP0001348_abnormal_lacrimal_gland	0.83378341
73	MP0002075_abnormal_coat/hair_pigmentati	0.80384719
74	MP0005464_abnormal_platelet_physiology	0.80073860
75	MP0002452_abnormal_antigen_presenting	0.77847922
76	MP0001324_abnormal_eye_pigmentation	0.76117239
77	MP0004043_abnormal_pH_regulation	0.73375668
78	MP0005000_abnormal_immune_tolerance	0.71298867
79	MP0005025_abnormal_response_to	0.70403525
80	MP0000778_abnormal_nervous_system	0.70369669
81	MP0000163_abnormal_cartilage_morphology	0.68651459
82	MP0003137_abnormal_impulse_conducting	0.66998124
83	MP0001970_abnormal_pain_threshold	0.66564618
84	MP0001542_abnormal_bone_strength	0.66231040
85	MP0005220_abnormal_exocrine_pancreas	0.65156620
86	MP0000538_abnormal_urinary_bladder	0.64315814
87	MP0002572_abnormal_emotion/affect_behav	0.64262587
88	MP0000647_abnormal_sebaceous_gland	0.64156385
89	MP0001186_pigmentation_phenotype	0.63817371
90	MP0005391_vision/eye_phenotype	0.61810029
91	MP0008877_abnormal_DNA_methylation	0.60943539
92	MP0003937_abnormal_limbs/digits/tail_de	0.60327130
93	MP0000716_abnormal_immune_system	0.58059674
94	MP0002693_abnormal_pancreas_physiology	0.58029398
95	MP0000762_abnormal_tongue_morphology	0.57602472
96	MP0005423_abnormal_somatic_nervous	0.57310801
97	MP0005360_urolithiasis	0.56980237
98	MP0000685_abnormal_immune_system	0.56909740
99	MP0001845_abnormal_inflammatory_respons	0.56626072
100	MP0009765_abnormal_xenobiotic_induced	0.56404380

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoplasia of the fovea (HP:0007750)	6.32807729
2	Aplasia/Hypoplasia of the fovea (HP:0008060)	6.32807729
3	Myelomeningocele (HP:0002475)	5.50821634
4	Abnormality of the fovea (HP:0000493)	4.90508131
5	Bell-shaped thorax (HP:0001591)	4.43012091
6	Aplasia/Hypoplasia of the macula (HP:0008059)	4.32227560
7	Unilateral renal agenesis (HP:0000122)	4.10984711
8	Aplasia/Hypoplasia affecting the retina (HP:0008061)	4.04757783
9	IgG deficiency (HP:0004315)	3.77689112
10	Chorioretinal atrophy (HP:0000533)	3.63852085
11	Congenital stationary night blindness (HP:0007642)	3.53965704
12	Protuberant abdomen (HP:0001538)	3.44335949
13	Bilateral microphthalmos (HP:0007633)	3.44017364
14	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.42034926
15	Enlarged kidneys (HP:0000105)	3.41926546
16	Keratoconus (HP:0000563)	3.34782847
17	Increased corneal curvature (HP:0100692)	3.34782847
18	IgM deficiency (HP:0002850)	3.29451142
19	Stenosis of the external auditory canal (HP:0000402)	3.28645529
20	Pendular nystagmus (HP:0012043)	3.21259184
21	Disproportionate short-trunk short stature (HP:0003521)	3.15951630
22	Fused cervical vertebrae (HP:0002949)	3.07652337
23	Oligodactyly (hands) (HP:0001180)	3.01300888
24	Methylmalonic acidemia (HP:0002912)	2.91344468
25	Increased IgM level (HP:0003496)	2.84357597
26	B lymphocytopenia (HP:0010976)	2.77238210
27	Tracheomalacia (HP:0002779)	2.63121333
28	Vitreoretinal degeneration (HP:0000655)	2.62882466
29	Meningocele (HP:0002435)	2.61522546
30	Abnormality of the lumbar spine (HP:0100712)	2.59392006
31	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.55173660
32	Abnormality of alanine metabolism (HP:0010916)	2.55173660
33	Hyperalaninemia (HP:0003348)	2.55173660
34	Missing ribs (HP:0000921)	2.52548652
35	Abnormal vertebral ossification (HP:0100569)	2.48313172
36	Focal motor seizures (HP:0011153)	2.47957308
37	Hepatocellular necrosis (HP:0001404)	2.38013618
38	Pustule (HP:0200039)	2.36621521
39	Aplasia/Hypoplasia of the clavicles (HP:0006710)	2.35507959
40	Oral leukoplakia (HP:0002745)	2.35013769
41	Stomatitis (HP:0010280)	2.32353696
42	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.29520204
43	Patchy hypopigmentation of hair (HP:0011365)	2.27556763
44	Hemiparesis (HP:0001269)	2.25241738
45	Recurrent abscess formation (HP:0002722)	2.24850509
46	Abnormality of B cell number (HP:0010975)	2.23115658
47	Short clavicles (HP:0000894)	2.23043243
48	Recurrent bacterial skin infections (HP:0005406)	2.22492694
49	Recurrent bronchitis (HP:0002837)	2.18319771
50	Palpitations (HP:0001962)	2.14230716
51	Esotropia (HP:0000565)	2.13549926
52	Congenital, generalized hypertrichosis (HP:0004540)	2.13147186
53	White forelock (HP:0002211)	2.12095867
54	Posterior subcapsular cataract (HP:0007787)	2.12015061
55	Mitochondrial inheritance (HP:0001427)	2.11645228
56	Spastic paraparesis (HP:0002313)	2.11432193
57	Elevated erythrocyte sedimentation rate (HP:0003565)	2.09755187
58	Methylmalonic aciduria (HP:0012120)	2.09110036
59	Choroideremia (HP:0001139)	2.05555400
60	Vascular calcification (HP:0004934)	1.99126136
61	Hepatic necrosis (HP:0002605)	1.98339505
62	Type 2 muscle fiber atrophy (HP:0003554)	1.97829960
63	Mixed hearing impairment (HP:0000410)	1.97419586
64	Upper limb muscle weakness (HP:0003484)	1.94412874
65	Focal seizures (HP:0007359)	1.92681346
66	Abnormality of T cell physiology (HP:0011840)	1.91300725
67	Muscle fibrillation (HP:0010546)	1.90551875
68	Tongue fasciculations (HP:0001308)	1.88223100
69	True hermaphroditism (HP:0010459)	1.87895080
70	Acute hepatic failure (HP:0006554)	1.87511690
71	Oligodactyly (HP:0012165)	1.85006934
72	Widely spaced teeth (HP:0000687)	1.81940483
73	Exertional dyspnea (HP:0002875)	1.81905407
74	Stillbirth (HP:0003826)	1.81763530
75	Muscle fiber atrophy (HP:0100295)	1.80077865
76	Albinism (HP:0001022)	1.79733847
77	IgA deficiency (HP:0002720)	1.79571172
78	Abnormality of serum amino acid levels (HP:0003112)	1.77783771
79	Glucose intolerance (HP:0000833)	1.76208459
80	Increased CSF lactate (HP:0002490)	1.76167555
81	Absent speech (HP:0001344)	1.75220238
82	Flared iliac wings (HP:0002869)	1.74771980
83	Abnormality of T cells (HP:0002843)	1.74541299
84	Abolished electroretinogram (ERG) (HP:0000550)	1.74082030
85	Pancytopenia (HP:0001876)	1.71405821
86	Diastasis recti (HP:0001540)	1.69434045
87	Hypoplastic pelvis (HP:0008839)	1.69418175
88	Cone-rod dystrophy (HP:0000548)	1.68272966
89	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.68258787
90	Insulin-resistant diabetes mellitus (HP:0000831)	1.67855378
91	Large for gestational age (HP:0001520)	1.67573643
92	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.67153195
93	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.67153195
94	Abnormality of T cell number (HP:0011839)	1.66783226
95	Renal cortical cysts (HP:0000803)	1.66724482
96	Long nose (HP:0003189)	1.65507630
97	Conical tooth (HP:0000698)	1.65255964
98	Embryonal renal neoplasm (HP:0011794)	1.63660197
99	Cupped ear (HP:0000378)	1.62860813
100	Cardiovascular calcification (HP:0011915)	1.61450691

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BLK	2.88845148
2	CASK	2.81272534
3	TNIK	2.16805039
4	STK16	2.14760827
5	FRK	2.11100613
6	SIK2	2.02508876
7	PASK	2.01954662
8	TESK1	1.87469651
9	MAP2K7	1.85497428
10	YES1	1.78283838
11	STK10	1.72530314
12	DAPK2	1.70807914
13	TGFBR2	1.68970460
14	MAP3K12	1.68595270
15	IKBKE	1.66464013
16	ACVR1B	1.66274638
17	PNCK	1.62240334
18	TEC	1.58002785
19	GRK6	1.55714746
20	PTK2B	1.54154395
21	WEE1	1.54068164
22	VRK2	1.53607652
23	STK38L	1.52701066
24	KDR	1.52326860
25	SYK	1.43258342
26	TXK	1.38903946
27	CSNK1G3	1.38403536
28	CSNK1G1	1.37708671
29	ADRBK1	1.36529234
30	NLK	1.36378974
31	MST4	1.34367890
32	GRK7	1.31441768
33	CSK	1.30708353
34	TAOK3	1.29445353
35	LYN	1.27369327
36	MAP2K4	1.25182717
37	IKBKB	1.24711818
38	INSRR	1.22053628
39	PLK2	1.21540454
40	MAP4K2	1.19881780
41	CSNK1A1L	1.19808234
42	ITK	1.19575385
43	ERBB3	1.19373028
44	EIF2AK1	1.16503943
45	FGFR2	1.16168417
46	IRAK1	1.13717760
47	CLK1	1.11913928
48	BCR	1.09344277
49	LIMK1	1.08894603
50	IRAK4	1.07625453
51	CAMKK2	1.03339519
52	MOS	0.96051302
53	HIPK2	0.93975454
54	PLK4	0.93836723
55	ADRBK2	0.92779552
56	MAP3K4	0.92541947
57	FES	0.92170835
58	TAF1	0.90731498
59	NUAK1	0.90030898
60	EPHB1	0.88005886
61	CSNK1G2	0.86113085
62	GRK5	0.82640815
63	CDK19	0.82423117
64	WNK3	0.73836922
65	ROCK1	0.73318082
66	MAP3K13	0.68390204
67	CSF1R	0.67224865
68	GRK1	0.66947218
69	PDK2	0.66641125
70	FGR	0.66627291
71	VRK1	0.66540150
72	DAPK1	0.66102274
73	BMPR2	0.65983480
74	PRKCQ	0.62447444
75	PRKCG	0.62316585
76	PIK3CA	0.61933624
77	TYK2	0.61931702
78	TESK2	0.60996709
79	IRAK2	0.58686757
80	STK24	0.58207574
81	LCK	0.57251941
82	BTK	0.56693555
83	MAPKAPK3	0.55889383
84	JAK3	0.55223373
85	GSK3A	0.54778108
86	ERBB2	0.54557075
87	MAPK13	0.54493416
88	ABL2	0.51023128
89	PDGFRB	0.48064655
90	PRKCE	0.47351986
91	BMPR1B	0.47219259
92	MAP4K1	0.46009212
93	IGF1R	0.45137158
94	ERBB4	0.43638863
95	MAP3K6	0.42619481
96	PRKCI	0.42482383
97	FYN	0.42447165
98	DYRK2	0.42181212
99	TSSK6	0.39290185
100	DDR2	0.37265176

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.66189043
2	Primary immunodeficiency_Homo sapiens_hsa05340	3.02921545
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.93560523
4	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.20608450
5	Parkinsons disease_Homo sapiens_hsa05012	2.17519176
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.14834425
7	Ether lipid metabolism_Homo sapiens_hsa00565	2.14217503
8	Hematopoietic cell lineage_Homo sapiens_hsa04640	2.10235873
9	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.05586666
10	Protein export_Homo sapiens_hsa03060	1.93140768
11	Salivary secretion_Homo sapiens_hsa04970	1.91352108
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.90980819
13	Basal transcription factors_Homo sapiens_hsa03022	1.85077643
14	Collecting duct acid secretion_Homo sapiens_hsa04966	1.81847458
15	Propanoate metabolism_Homo sapiens_hsa00640	1.70003087
16	Graft-versus-host disease_Homo sapiens_hsa05332	1.68580972
17	Phototransduction_Homo sapiens_hsa04744	1.67746404
18	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.61681222
19	Allograft rejection_Homo sapiens_hsa05330	1.59519941
20	Type I diabetes mellitus_Homo sapiens_hsa04940	1.55099531
21	Steroid biosynthesis_Homo sapiens_hsa00100	1.54432600
22	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.53950971
23	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.52685536
24	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.49839619
25	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.44964848
26	Alzheimers disease_Homo sapiens_hsa05010	1.44219970
27	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.43693158
28	Antigen processing and presentation_Homo sapiens_hsa04612	1.40900901
29	Rheumatoid arthritis_Homo sapiens_hsa05323	1.40652168
30	Glutamatergic synapse_Homo sapiens_hsa04724	1.37936441
31	Long-term depression_Homo sapiens_hsa04730	1.35760331
32	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.33507382
33	Circadian entrainment_Homo sapiens_hsa04713	1.32296768
34	Non-homologous end-joining_Homo sapiens_hsa03450	1.28406158
35	Sulfur metabolism_Homo sapiens_hsa00920	1.25414230
36	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.23763167
37	Vibrio cholerae infection_Homo sapiens_hsa05110	1.20783079
38	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.18269093
39	Fatty acid elongation_Homo sapiens_hsa00062	1.17372444
40	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.16475355
41	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	1.12677089
42	Homologous recombination_Homo sapiens_hsa03440	1.08802719
43	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.01216231
44	Huntingtons disease_Homo sapiens_hsa05016	0.97527584
45	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.95678826
46	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.95530074
47	Mineral absorption_Homo sapiens_hsa04978	0.90782621
48	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.85538431
49	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.84162561
50	Glycerolipid metabolism_Homo sapiens_hsa00561	0.82847336
51	RNA degradation_Homo sapiens_hsa03018	0.81115178
52	Insulin secretion_Homo sapiens_hsa04911	0.78982479
53	Gastric acid secretion_Homo sapiens_hsa04971	0.78966783
54	Linoleic acid metabolism_Homo sapiens_hsa00591	0.77529316
55	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.77417762
56	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.76596744
57	Measles_Homo sapiens_hsa05162	0.76596373
58	Butanoate metabolism_Homo sapiens_hsa00650	0.76465848
59	Sphingolipid metabolism_Homo sapiens_hsa00600	0.73326574
60	Asthma_Homo sapiens_hsa05310	0.71742808
61	Shigellosis_Homo sapiens_hsa05131	0.71244128
62	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.68508836
63	Platelet activation_Homo sapiens_hsa04611	0.68281248
64	Chemical carcinogenesis_Homo sapiens_hsa05204	0.68190683
65	Nitrogen metabolism_Homo sapiens_hsa00910	0.68050453
66	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.66640865
67	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.64558428
68	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.63783001
69	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.63108054
70	Cardiac muscle contraction_Homo sapiens_hsa04260	0.62753447
71	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.62404560
72	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.62174818
73	Gap junction_Homo sapiens_hsa04540	0.60364292
74	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.60157496
75	Chemokine signaling pathway_Homo sapiens_hsa04062	0.59922655
76	Renin secretion_Homo sapiens_hsa04924	0.52796063
77	Phagosome_Homo sapiens_hsa04145	0.52739919
78	Purine metabolism_Homo sapiens_hsa00230	0.51935407
79	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.48450483
80	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.47724969
81	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.47086089
82	Serotonergic synapse_Homo sapiens_hsa04726	0.44183705
83	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.43627638
84	Caffeine metabolism_Homo sapiens_hsa00232	0.42871448
85	Metabolic pathways_Homo sapiens_hsa01100	0.42757103
86	Pancreatic secretion_Homo sapiens_hsa04972	0.41755823
87	Calcium signaling pathway_Homo sapiens_hsa04020	0.41652479
88	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.41029324
89	Fanconi anemia pathway_Homo sapiens_hsa03460	0.40623205
90	Nicotine addiction_Homo sapiens_hsa05033	0.40553573
91	Viral myocarditis_Homo sapiens_hsa05416	0.38917836
92	Ribosome_Homo sapiens_hsa03010	0.38498316
93	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.38462139
94	African trypanosomiasis_Homo sapiens_hsa05143	0.38067729
95	Morphine addiction_Homo sapiens_hsa05032	0.36240762
96	Complement and coagulation cascades_Homo sapiens_hsa04610	0.35369645
97	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.35047840
98	Choline metabolism in cancer_Homo sapiens_hsa05231	0.32885471
99	Folate biosynthesis_Homo sapiens_hsa00790	0.32032616
100	Cocaine addiction_Homo sapiens_hsa05030	0.31873837

AKR1B1P1

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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