ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	detection of light stimulus involved in visual perception (GO:0050908)	5.74161758
2	detection of light stimulus involved in sensory perception (GO:0050962)	5.74161758
3	regulation of protein glycosylation (GO:0060049)	5.20384242
4	L-fucose metabolic process (GO:0042354)	5.16236992
5	L-fucose catabolic process (GO:0042355)	5.16236992
6	fucose catabolic process (GO:0019317)	5.16236992
7	cyclic nucleotide catabolic process (GO:0009214)	4.51653701
8	cAMP catabolic process (GO:0006198)	4.50400339
9	negative regulation of cAMP-mediated signaling (GO:0043951)	3.80599938
10	cellular response to zinc ion (GO:0071294)	3.76855750
11	establishment of protein localization to Golgi (GO:0072600)	3.76553766
12	rRNA catabolic process (GO:0016075)	3.72934667
13	alanine transport (GO:0032328)	3.67543049
14	DNA deamination (GO:0045006)	3.64785393
15	response to gravity (GO:0009629)	3.57658716
16	protein targeting to Golgi (GO:0000042)	3.55475674
17	positive regulation of mRNA 3-end processing (GO:0031442)	3.51454250
18	regulation of mRNA 3-end processing (GO:0031440)	3.48807448
19	regulation of cAMP-mediated signaling (GO:0043949)	3.47233137
20	positive regulation of T cell cytokine production (GO:0002726)	3.39569604
21	positive regulation of prostaglandin secretion (GO:0032308)	3.33820662
22	mitochondrial calcium ion transport (GO:0006851)	3.29270549
23	protein localization to Golgi apparatus (GO:0034067)	3.28607978
24	xenobiotic catabolic process (GO:0042178)	3.18470818
25	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.18274916
26	sleep (GO:0030431)	3.16199180
27	calcium ion import (GO:0070509)	3.15252101
28	preassembly of GPI anchor in ER membrane (GO:0016254)	3.13325630
29	positive regulation of vesicle fusion (GO:0031340)	3.07972265
30	proline transport (GO:0015824)	3.07559042
31	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	3.06124326
32	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	3.06124326
33	acrosome assembly (GO:0001675)	3.02701500
34	protein K11-linked deubiquitination (GO:0035871)	2.96129173
35	negative regulation of mast cell activation (GO:0033004)	2.94607166
36	sulfation (GO:0051923)	2.93897690
37	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.91986333
38	multicellular organism reproduction (GO:0032504)	2.90795111
39	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.89642430
40	regulation of prostaglandin secretion (GO:0032306)	2.86291899
41	regulation of protein kinase A signaling (GO:0010738)	2.84494147
42	aggressive behavior (GO:0002118)	2.82060357
43	axoneme assembly (GO:0035082)	2.81137450
44	positive regulation of mRNA catabolic process (GO:0061014)	2.79927363
45	positive regulation of mRNA metabolic process (GO:1903313)	2.79852043
46	regulation of memory T cell differentiation (GO:0043380)	2.70107979
47	mitochondrial calcium ion homeostasis (GO:0051560)	2.69551409
48	regulation of female receptivity (GO:0045924)	2.64181685
49	B cell mediated immunity (GO:0019724)	2.64135767
50	negative regulation of phosphoprotein phosphatase activity (GO:0032515)	2.63100022
51	fucosylation (GO:0036065)	2.61268533
52	positive regulation of mRNA processing (GO:0050685)	2.58593171
53	sphingoid metabolic process (GO:0046519)	2.56762494
54	regulation of cilium movement (GO:0003352)	2.56747030
55	platelet dense granule organization (GO:0060155)	2.55874712
56	positive regulation of fatty acid transport (GO:2000193)	2.54783729
57	N-acetylneuraminate metabolic process (GO:0006054)	2.51289095
58	myelin assembly (GO:0032288)	2.50830293
59	retinal cone cell development (GO:0046549)	2.48524607
60	adenosine metabolic process (GO:0046085)	2.48128773
61	regulation of germinal center formation (GO:0002634)	2.47956004
62	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.47483480
63	protein prenylation (GO:0018342)	2.46808994
64	prenylation (GO:0097354)	2.46808994
65	piRNA metabolic process (GO:0034587)	2.45777855
66	photoreceptor cell development (GO:0042461)	2.45186206
67	organic cation transport (GO:0015695)	2.44949309
68	membrane depolarization during action potential (GO:0086010)	2.43983361
69	phosphatidylglycerol biosynthetic process (GO:0006655)	2.40958891
70	lymphocyte apoptotic process (GO:0070227)	2.40916595
71	cellular ketone body metabolic process (GO:0046950)	2.40437257
72	negative thymic T cell selection (GO:0045060)	2.39531113
73	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.38992081
74	reflex (GO:0060004)	2.38977385
75	oxygen transport (GO:0015671)	2.38826853
76	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.38797386
77	positive regulation of icosanoid secretion (GO:0032305)	2.38501192
78	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	2.37437007
79	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	2.37437007
80	regulation of glucokinase activity (GO:0033131)	2.36882228
81	regulation of hexokinase activity (GO:1903299)	2.36882228
82	auditory receptor cell stereocilium organization (GO:0060088)	2.36675858
83	positive regulation of gamma-delta T cell activation (GO:0046645)	2.35064179
84	zinc ion homeostasis (GO:0055069)	2.34939581
85	positive regulation of natural killer cell mediated immunity (GO:0002717)	2.33741495
86	positive regulation of defense response to virus by host (GO:0002230)	2.33132415
87	positive regulation of T-helper 1 type immune response (GO:0002827)	2.32370805
88	regulation of natural killer cell mediated immunity (GO:0002715)	2.29016896
89	regulation of natural killer cell mediated cytotoxicity (GO:0042269)	2.29016896
90	positive regulation of natural killer cell differentiation (GO:0032825)	2.27468486
91	positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	2.27343447
92	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.27211291
93	snRNA transcription (GO:0009301)	2.26985730
94	regulation of T cell cytokine production (GO:0002724)	2.26812342
95	photoreceptor cell maintenance (GO:0045494)	2.26475685
96	regulation of acrosome reaction (GO:0060046)	2.24725838
97	regulation of neurotransmitter uptake (GO:0051580)	2.24358318
98	negative regulation of membrane potential (GO:0045837)	2.24106735
99	eye photoreceptor cell development (GO:0042462)	2.23873547
100	S-adenosylmethionine metabolic process (GO:0046500)	2.23004755

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.71867709
2	IRF8_22096565_ChIP-ChIP_GC-B_Human	4.24727134
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.57845426
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.18117453
5	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.62619008
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.53507511
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.41476086
8	IRF1_19129219_ChIP-ChIP_H3396_Human	2.25633443
9	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	2.17469093
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.16061056
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.15215672
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.14737986
13	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.04183756
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.03435817
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.01255499
16	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.91568972
17	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.91054950
18	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.87402732
19	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.85914990
20	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.81821794
21	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.78925307
22	BCAT_22108803_ChIP-Seq_LS180_Human	1.69948533
23	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.69679746
24	IGF1R_20145208_ChIP-Seq_DFB_Human	1.64115473
25	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.60576113
26	P300_19829295_ChIP-Seq_ESCs_Human	1.59445491
27	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.57023176
28	AR_20517297_ChIP-Seq_VCAP_Human	1.56273869
29	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.54917698
30	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.53725015
31	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.52900417
32	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.47748807
33	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.46544797
34	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.44306418
35	ER_23166858_ChIP-Seq_MCF-7_Human	1.43248512
36	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.40694670
37	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.40694670
38	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.40658968
39	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.39527501
40	GATA3_26560356_Chip-Seq_TH2_Human	1.34216668
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.33227323
42	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.33089889
43	STAT3_23295773_ChIP-Seq_U87_Human	1.32680846
44	TCF4_23295773_ChIP-Seq_U87_Human	1.26405817
45	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.26189785
46	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23697781
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.22713920
48	NANOG_19829295_ChIP-Seq_ESCs_Human	1.22713920
49	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.22627101
50	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.20704707
51	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.19814548
52	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.17400733
53	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.16805064
54	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.16705065
55	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.15972742
56	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.15245149
57	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.14754051
58	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.14595894
59	P53_22387025_ChIP-Seq_ESCs_Mouse	1.13892936
60	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.13117627
61	CBP_20019798_ChIP-Seq_JUKART_Human	1.12954802
62	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.12954802
63	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.12507306
64	FUS_26573619_Chip-Seq_HEK293_Human	1.12280496
65	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.12186411
66	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.11464403
67	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.10080100
68	SMAD4_21799915_ChIP-Seq_A2780_Human	1.09770418
69	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.09387458
70	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.08814529
71	CDX2_22108803_ChIP-Seq_LS180_Human	1.07985510
72	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.07969619
73	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.06564877
74	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.06180145
75	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.05267721
76	VDR_22108803_ChIP-Seq_LS180_Human	1.03596021
77	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.02621545
78	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.02181782
79	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.00838379
80	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.00823290
81	TCF4_22108803_ChIP-Seq_LS180_Human	0.99612003
82	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.99437534
83	PU1_27457419_Chip-Seq_LIVER_Mouse	0.99084686
84	MYC_18940864_ChIP-ChIP_HL60_Human	0.98498669
85	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.98080061
86	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.97294712
87	CEBPB_22108803_ChIP-Seq_LS180_Human	0.96150358
88	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.95238067
89	HOXB7_26014856_ChIP-Seq_BT474_Human	0.95011524
90	P300_18555785_Chip-Seq_ESCs_Mouse	0.94888423
91	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.93899318
92	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.91791620
93	MYC_19829295_ChIP-Seq_ESCs_Human	0.91358508
94	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.90774846
95	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.90111402
96	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.89931559
97	MYB_26560356_Chip-Seq_TH2_Human	0.88409183
98	ZFX_18555785_Chip-Seq_ESCs_Mouse	0.88147959
99	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.88094191
100	FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse	0.87172938

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003172_abnormal_lysosome_physiology	3.26512297
2	MP0002876_abnormal_thyroid_physiology	3.10903758
3	MP0009780_abnormal_chondrocyte_physiolo	3.01214330
4	MP0005645_abnormal_hypothalamus_physiol	2.89342490
5	MP0002837_dystrophic_cardiac_calcinosis	2.71031252
6	MP0006072_abnormal_retinal_apoptosis	2.68868498
7	MP0001501_abnormal_sleep_pattern	2.62733026
8	MP0008877_abnormal_DNA_methylation	2.59572360
9	MP0005379_endocrine/exocrine_gland_phen	2.39561642
10	MP0008875_abnormal_xenobiotic_pharmacok	2.39202835
11	MP0003724_increased_susceptibility_to	2.35789680
12	MP0000569_abnormal_digit_pigmentation	2.34385949
13	MP0002163_abnormal_gland_morphology	2.31922783
14	MP0005551_abnormal_eye_electrophysiolog	2.26716790
15	MP0003195_calcinosis	2.17368236
16	MP0002138_abnormal_hepatobiliary_system	2.16003939
17	MP0001835_abnormal_antigen_presentation	2.15377368
18	MP0005671_abnormal_response_to	2.15062387
19	MP0000383_abnormal_hair_follicle	1.98400729
20	MP0000685_abnormal_immune_system	1.90700772
21	MP0005387_immune_system_phenotype	1.84408755
22	MP0001790_abnormal_immune_system	1.84408755
23	MP0001986_abnormal_taste_sensitivity	1.81280476
24	MP0005646_abnormal_pituitary_gland	1.77201248
25	MP0001800_abnormal_humoral_immune	1.69075384
26	MP0005253_abnormal_eye_physiology	1.67457493
27	MP0005000_abnormal_immune_tolerance	1.62497539
28	MP0002909_abnormal_adrenal_gland	1.62422650
29	MP0002693_abnormal_pancreas_physiology	1.61764054
30	MP0000015_abnormal_ear_pigmentation	1.58437635
31	MP0002723_abnormal_immune_serum	1.56972813
32	MP0002148_abnormal_hypersensitivity_rea	1.53705217
33	MP0005365_abnormal_bile_salt	1.49301084
34	MP0010678_abnormal_skin_adnexa	1.47395107
35	MP0002452_abnormal_antigen_presenting	1.41805526
36	MP0005464_abnormal_platelet_physiology	1.34780983
37	MP0002420_abnormal_adaptive_immunity	1.31995669
38	MP0001819_abnormal_immune_cell	1.30157877
39	MP0002102_abnormal_ear_morphology	1.29416891
40	MP0009764_decreased_sensitivity_to	1.28280369
41	MP0009046_muscle_twitch	1.25350004
42	MP0001944_abnormal_pancreas_morphology	1.22517995
43	MP0005174_abnormal_tail_pigmentation	1.22134369
44	MP0009278_abnormal_bone_marrow	1.22001681
45	MP0009745_abnormal_behavioral_response	1.19529234
46	MP0010329_abnormal_lipoprotein_level	1.19296923
47	MP0000465_gastrointestinal_hemorrhage	1.18710752
48	MP0000427_abnormal_hair_cycle	1.18448773
49	MP0004019_abnormal_vitamin_homeostasis	1.18382883
50	MP0005410_abnormal_fertilization	1.16970339
51	MP0003718_maternal_effect	1.16692454
52	MP0005332_abnormal_amino_acid	1.14665704
53	MP0004484_altered_response_of	1.13625990
54	MP0003252_abnormal_bile_duct	1.12880895
55	MP0009785_altered_susceptibility_to	1.10919666
56	MP0001845_abnormal_inflammatory_respons	1.09920163
57	MP0008872_abnormal_physiological_respon	1.09836555
58	MP0001486_abnormal_startle_reflex	1.08165522
59	MP0004215_abnormal_myocardial_fiber	1.06233493
60	MP0006036_abnormal_mitochondrial_physio	1.04608472
61	MP0005389_reproductive_system_phenotype	1.03885100
62	MP0005636_abnormal_mineral_homeostasis	1.03062158
63	MP0000716_abnormal_immune_system	1.00080207
64	MP0001968_abnormal_touch/_nociception	0.99725618
65	MP0001545_abnormal_hematopoietic_system	0.99516554
66	MP0005397_hematopoietic_system_phenotyp	0.99516554
67	MP0002398_abnormal_bone_marrow	0.99181595
68	MP0005025_abnormal_response_to	0.98734702
69	MP0001765_abnormal_ion_homeostasis	0.94826872
70	MP0002419_abnormal_innate_immunity	0.94803647
71	MP0006082_CNS_inflammation	0.92638689
72	MP0006054_spinal_hemorrhage	0.91823353
73	MP0005310_abnormal_salivary_gland	0.91401657
74	MP0004133_heterotaxia	0.90960310
75	MP0002928_abnormal_bile_duct	0.90583079
76	MP0001764_abnormal_homeostasis	0.89848675
77	MP0008775_abnormal_heart_ventricle	0.89835570
78	MP0003186_abnormal_redox_activity	0.89371404
79	MP0004742_abnormal_vestibular_system	0.88881834
80	MP0008469_abnormal_protein_level	0.88209656
81	MP0005408_hypopigmentation	0.86712025
82	MP0003787_abnormal_imprinting	0.85748913
83	MP0000689_abnormal_spleen_morphology	0.84640117
84	MP0000230_abnormal_systemic_arterial	0.81435827
85	MP0004130_abnormal_muscle_cell	0.81277268
86	MP0003866_abnormal_defecation	0.81043951
87	MP0000631_abnormal_neuroendocrine_gland	0.80852221
88	MP0002429_abnormal_blood_cell	0.80747930
89	MP0002557_abnormal_social/conspecific_i	0.79223516
90	MP0000371_diluted_coat_color	0.79088881
91	MP0001756_abnormal_urination	0.78776122
92	MP0005075_abnormal_melanosome_morpholog	0.78598278
93	MP0008961_abnormal_basal_metabolism	0.76631182
94	MP0001485_abnormal_pinna_reflex	0.73734835
95	MP0001348_abnormal_lacrimal_gland	0.73663222
96	MP0002136_abnormal_kidney_physiology	0.73345993
97	MP0003943_abnormal_hepatobiliary_system	0.73044584
98	MP0005584_abnormal_enzyme/coenzyme_acti	0.72951134
99	MP0002272_abnormal_nervous_system	0.72804558
100	MP0002572_abnormal_emotion/affect_behav	0.72431753

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	5.77382672
2	Congenital stationary night blindness (HP:0007642)	5.61505813
3	Albinism (HP:0001022)	5.44161892
4	Abnormal rod and cone electroretinograms (HP:0008323)	4.73361562
5	Hypoplasia of the fovea (HP:0007750)	4.68435499
6	Aplasia/Hypoplasia of the fovea (HP:0008060)	4.68435499
7	Type II lissencephaly (HP:0007260)	4.67637713
8	Calf muscle hypertrophy (HP:0008981)	4.36320892
9	3-Methylglutaconic aciduria (HP:0003535)	4.29281784
10	Central scotoma (HP:0000603)	4.00263291
11	Muscle hypertrophy of the lower extremities (HP:0008968)	3.80648895
12	Abnormality of the fovea (HP:0000493)	3.70618898
13	Pancreatic cysts (HP:0001737)	3.44620951
14	Abnormality of macular pigmentation (HP:0008002)	3.34738308
15	Increased IgM level (HP:0003496)	3.23797070
16	Abnormal delayed hypersensitivity skin test (HP:0002963)	2.98604350
17	Aplasia/Hypoplasia of the macula (HP:0008059)	2.93064384
18	Stomach cancer (HP:0012126)	2.88760594
19	Abnormal biliary tract physiology (HP:0012439)	2.88212273
20	Bile duct proliferation (HP:0001408)	2.88212273
21	Vasculitis (HP:0002633)	2.76277851
22	Abnormality of the renal cortex (HP:0011035)	2.75376026
23	Gastrointestinal stroma tumor (HP:0100723)	2.72514310
24	Attenuation of retinal blood vessels (HP:0007843)	2.72357383
25	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.71338269
26	Scotoma (HP:0000575)	2.70753772
27	Gaze-evoked nystagmus (HP:0000640)	2.62395906
28	Generalized hypopigmentation (HP:0007513)	2.52822024
29	Eosinophilia (HP:0001880)	2.51896213
30	IgG deficiency (HP:0004315)	2.48295468
31	Renal cortical cysts (HP:0000803)	2.47130413
32	Broad-based gait (HP:0002136)	2.41004370
33	Delayed CNS myelination (HP:0002188)	2.38627643
34	Tubular atrophy (HP:0000092)	2.35521463
35	Retinal dysplasia (HP:0007973)	2.33683918
36	Agitation (HP:0000713)	2.33683515
37	Chronic hepatic failure (HP:0100626)	2.31767535
38	Pancreatic fibrosis (HP:0100732)	2.30488729
39	Optic neuritis (HP:0100653)	2.30271845
40	Retrobulbar optic neuritis (HP:0100654)	2.30271845
41	Molar tooth sign on MRI (HP:0002419)	2.27705603
42	Abnormality of midbrain morphology (HP:0002418)	2.27705603
43	Hypochromic anemia (HP:0001931)	2.24578952
44	Autoimmune hemolytic anemia (HP:0001890)	2.22707766
45	Generalized aminoaciduria (HP:0002909)	2.21267543
46	Ketosis (HP:0001946)	2.14793498
47	Decreased central vision (HP:0007663)	2.14524661
48	Congenital sensorineural hearing impairment (HP:0008527)	2.14354507
49	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.13403127
50	Severe muscular hypotonia (HP:0006829)	2.10305383
51	Abnormality of T cell physiology (HP:0011840)	2.10089412
52	Abnormality of eosinophils (HP:0001879)	2.09071396
53	Gingival bleeding (HP:0000225)	2.08190893
54	Aplasia/hypoplasia of the uterus (HP:0008684)	2.07773274
55	True hermaphroditism (HP:0010459)	2.07389711
56	Proximal tubulopathy (HP:0000114)	2.06038573
57	Cystic liver disease (HP:0006706)	2.05508058
58	Absent speech (HP:0001344)	2.03923535
59	Nephronophthisis (HP:0000090)	2.03795402
60	Hyperventilation (HP:0002883)	1.99950613
61	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.98002172
62	Nonprogressive disorder (HP:0003680)	1.97297245
63	Granulocytopenia (HP:0001913)	1.96275494
64	Myositis (HP:0100614)	1.95411837
65	Keratoconus (HP:0000563)	1.95340913
66	Increased corneal curvature (HP:0100692)	1.95340913
67	Encephalitis (HP:0002383)	1.94084126
68	Hemiparesis (HP:0001269)	1.93404396
69	Keratitis (HP:0000491)	1.91120427
70	Stomatitis (HP:0010280)	1.86936165
71	Orchitis (HP:0100796)	1.86531061
72	Clumsiness (HP:0002312)	1.86521469
73	Fair hair (HP:0002286)	1.85711353
74	Hemoptysis (HP:0002105)	1.85353739
75	Abnormality of cells of the lymphoid lineage (HP:0012140)	1.84339081
76	Autoimmune thrombocytopenia (HP:0001973)	1.83267222
77	Abolished electroretinogram (ERG) (HP:0000550)	1.82319736
78	Abnormality of the vitreous humor (HP:0004327)	1.82266648
79	Prolonged bleeding time (HP:0003010)	1.81981430
80	Asplenia (HP:0001746)	1.80761866
81	Joint swelling (HP:0001386)	1.79769574
82	Tongue fasciculations (HP:0001308)	1.79747231
83	Lymphopenia (HP:0001888)	1.79607281
84	Constricted visual fields (HP:0001133)	1.79407555
85	Abnormality of the renal medulla (HP:0100957)	1.79173505
86	Widely spaced teeth (HP:0000687)	1.78091296
87	Glycosuria (HP:0003076)	1.75177864
88	Abnormality of urine glucose concentration (HP:0011016)	1.75177864
89	Medial flaring of the eyebrow (HP:0010747)	1.71898010
90	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.71480566
91	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.70265442
92	Pulmonary infiltrates (HP:0002113)	1.69662464
93	Progressive inability to walk (HP:0002505)	1.69655459
94	Bony spicule pigmentary retinopathy (HP:0007737)	1.64043412
95	Decreased circulating renin level (HP:0003351)	1.61868798
96	Metaphyseal dysplasia (HP:0100255)	1.60101231
97	Leukocytosis (HP:0001974)	1.59822325
98	Conical tooth (HP:0000698)	1.59672970
99	Intellectual disability, progressive (HP:0006887)	1.57876701
100	Increased CSF protein (HP:0002922)	1.57821015

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.28509219
2	CDK19	3.38997949
3	BRD4	3.34623192
4	SIK2	3.12546538
5	ADRBK2	3.08758324
6	MAP2K6	2.54069207
7	TXK	2.48884767
8	PTK2B	2.28949714
9	IKBKB	2.15626831
10	GRK6	2.07198421
11	TLK1	2.05970979
12	CASK	1.89826431
13	PINK1	1.88749609
14	GRK1	1.85233550
15	EIF2AK1	1.75532279
16	TAOK3	1.72508741
17	DAPK2	1.67630893
18	ACVR1B	1.64583530
19	MARK3	1.62752044
20	BLK	1.59835444
21	TRPM7	1.59788650
22	TRIM28	1.55798099
23	PHKG1	1.52685320
24	PHKG2	1.52685320
25	MAPK11	1.51303061
26	STK24	1.48709311
27	JAK3	1.45054612
28	NTRK3	1.44453868
29	EIF2AK3	1.42006932
30	PRKD2	1.40460286
31	BMPR2	1.38155416
32	MUSK	1.36633607
33	MAP3K14	1.34372344
34	STK3	1.33831158
35	PAK3	1.27998076
36	BMX	1.17487504
37	TEC	1.16646403
38	WNK4	1.15272231
39	CSF1R	1.13097860
40	CAMKK2	1.10152718
41	MAPK7	1.09912229
42	SIK3	1.09427123
43	MAP3K13	1.07746274
44	BTK	1.06769610
45	EPHA3	1.06511138
46	MAP2K2	1.03627204
47	CDK12	1.00940671
48	TNK2	1.00035464
49	ZAK	0.97360678
50	NUAK1	0.97270730
51	TBK1	0.97050324
52	BCR	0.94580437
53	SYK	0.90808277
54	MAPKAPK3	0.90592433
55	INSRR	0.83524070
56	NEK2	0.82131368
57	KSR1	0.81653708
58	MST4	0.77036988
59	EPHB1	0.76320963
60	STK39	0.72628533
61	PRKCE	0.68684427
62	CHUK	0.67372637
63	ITK	0.65676898
64	LYN	0.64492570
65	IKBKE	0.61433549
66	FGR	0.60413377
67	WNK3	0.60205304
68	MAP4K1	0.57518590
69	RPS6KB1	0.56911672
70	PRKCQ	0.52885978
71	MAPK13	0.52682389
72	CAMK2D	0.49045949
73	IRAK1	0.48125924
74	PRKCZ	0.47841982
75	CSNK1D	0.47529490
76	OXSR1	0.47198755
77	ADRBK1	0.45720531
78	LCK	0.45457357
79	IRAK4	0.45439844
80	ABL1	0.45362794
81	STK10	0.43252073
82	PRKACA	0.40222162
83	RPS6KA5	0.38951572
84	PRKCB	0.37536860
85	PRKG1	0.37037931
86	MAPK3	0.36863480
87	ROCK1	0.36150544
88	CDC42BPA	0.35677713
89	ZAP70	0.34873451
90	EIF2AK2	0.34478447
91	PRKCI	0.34438237
92	KDR	0.32385301
93	PDK1	0.32141558
94	FES	0.32097911
95	PIK3CG	0.30852739
96	DAPK1	0.30002412
97	INSR	0.29398301
98	MAP3K9	0.28426072
99	PRKCA	0.28254356
100	BRSK2	0.27406059

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Graft-versus-host disease_Homo sapiens_hsa05332	3.29402540
2	Type I diabetes mellitus_Homo sapiens_hsa04940	2.81175736
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.79166031
4	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.65283237
5	Primary immunodeficiency_Homo sapiens_hsa05340	2.47594509
6	Asthma_Homo sapiens_hsa05310	2.36949627
7	Allograft rejection_Homo sapiens_hsa05330	2.31995843
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.22169945
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.17974111
10	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.16647248
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.01053401
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.87626012
13	Caffeine metabolism_Homo sapiens_hsa00232	1.87372660
14	Pentose phosphate pathway_Homo sapiens_hsa00030	1.82317505
15	Butanoate metabolism_Homo sapiens_hsa00650	1.74378947
16	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.65723184
17	Linoleic acid metabolism_Homo sapiens_hsa00591	1.61023539
18	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.59451502
19	Sulfur metabolism_Homo sapiens_hsa00920	1.57952702
20	Ether lipid metabolism_Homo sapiens_hsa00565	1.52346432
21	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.49765228
22	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.43098941
23	Morphine addiction_Homo sapiens_hsa05032	1.42964876
24	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40065103
25	Phototransduction_Homo sapiens_hsa04744	1.38162101
26	Olfactory transduction_Homo sapiens_hsa04740	1.37682096
27	Antigen processing and presentation_Homo sapiens_hsa04612	1.34586176
28	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.34409308
29	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.30994150
30	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.28258068
31	One carbon pool by folate_Homo sapiens_hsa00670	1.27200640
32	Mineral absorption_Homo sapiens_hsa04978	1.26858103
33	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.19764329
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.14990578
35	Selenocompound metabolism_Homo sapiens_hsa00450	1.14677221
36	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.09980393
37	Regulation of autophagy_Homo sapiens_hsa04140	1.09217370
38	beta-Alanine metabolism_Homo sapiens_hsa00410	1.04315011
39	Glycerolipid metabolism_Homo sapiens_hsa00561	1.03548671
40	Chemical carcinogenesis_Homo sapiens_hsa05204	1.02188736
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.01900668
42	Serotonergic synapse_Homo sapiens_hsa04726	1.00127368
43	Taste transduction_Homo sapiens_hsa04742	0.99909352
44	Insulin secretion_Homo sapiens_hsa04911	0.97127068
45	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.94455751
46	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.94437650
47	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.93342681
48	Nicotine addiction_Homo sapiens_hsa05033	0.92982645
49	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.92251319
50	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.91772085
51	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.90194097
52	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.89301127
53	Leishmaniasis_Homo sapiens_hsa05140	0.88721159
54	Homologous recombination_Homo sapiens_hsa03440	0.88290019
55	Rheumatoid arthritis_Homo sapiens_hsa05323	0.87686842
56	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.87146696
57	GABAergic synapse_Homo sapiens_hsa04727	0.86285397
58	Calcium signaling pathway_Homo sapiens_hsa04020	0.85070432
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.84353031
60	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.84032743
61	Retinol metabolism_Homo sapiens_hsa00830	0.80700584
62	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.79193359
63	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.78276321
64	Purine metabolism_Homo sapiens_hsa00230	0.74243344
65	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.73968420
66	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.73874700
67	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.73561817
68	Herpes simplex infection_Homo sapiens_hsa05168	0.72405398
69	Renin secretion_Homo sapiens_hsa04924	0.70121701
70	Protein export_Homo sapiens_hsa03060	0.68464105
71	Salivary secretion_Homo sapiens_hsa04970	0.67688812
72	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.66510745
73	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.59785720
74	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.58412891
75	Tryptophan metabolism_Homo sapiens_hsa00380	0.57605973
76	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.57526068
77	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.57100360
78	TNF signaling pathway_Homo sapiens_hsa04668	0.56742082
79	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.55108762
80	Sphingolipid metabolism_Homo sapiens_hsa00600	0.54835161
81	Histidine metabolism_Homo sapiens_hsa00340	0.52207869
82	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.51425239
83	Cardiac muscle contraction_Homo sapiens_hsa04260	0.51354838
84	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.51072812
85	ABC transporters_Homo sapiens_hsa02010	0.50972904
86	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.49760919
87	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.49648696
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.49305873
89	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.49297055
90	Peroxisome_Homo sapiens_hsa04146	0.47769951
91	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.47084940
92	Lysosome_Homo sapiens_hsa04142	0.44027978
93	Collecting duct acid secretion_Homo sapiens_hsa04966	0.43237209
94	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.42667581
95	Circadian entrainment_Homo sapiens_hsa04713	0.40805040
96	Basal transcription factors_Homo sapiens_hsa03022	0.37229692
97	cAMP signaling pathway_Homo sapiens_hsa04024	0.36928109
98	Amphetamine addiction_Homo sapiens_hsa05031	0.36015426
99	Viral myocarditis_Homo sapiens_hsa05416	0.35979852
100	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.34452152

ELL2P1

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

Tissue Expression Export image »

Cell Line Expression Export image »