ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	histone H3-K36 demethylation (GO:0070544)	9.99897604
2	regulation of cilium movement (GO:0003352)	5.53475071
3	histone H3-K9 demethylation (GO:0033169)	5.35702799
4	meiotic chromosome segregation (GO:0045132)	5.04667001
5	DNA methylation involved in gamete generation (GO:0043046)	4.98438243
6	righting reflex (GO:0060013)	4.96944481
7	signal complex assembly (GO:0007172)	4.94918991
8	establishment of nucleus localization (GO:0040023)	4.85985883
9	histone H4-K12 acetylation (GO:0043983)	4.64363023
10	chromosome organization involved in meiosis (GO:0070192)	4.50276215
11	pyrimidine nucleobase catabolic process (GO:0006208)	4.44631917
12	regulation of pigment cell differentiation (GO:0050932)	4.38588877
13	piRNA metabolic process (GO:0034587)	4.38362807
14	synaptonemal complex assembly (GO:0007130)	4.37842684
15	synapsis (GO:0007129)	4.37449589
16	dendritic spine morphogenesis (GO:0060997)	4.32439236
17	coronary vasculature morphogenesis (GO:0060977)	4.29354258
18	male meiosis (GO:0007140)	4.27972376
19	male meiosis I (GO:0007141)	4.26650831
20	positive regulation of developmental pigmentation (GO:0048087)	4.22616385
21	histone demethylation (GO:0016577)	4.21826084
22	histone H4-K5 acetylation (GO:0043981)	4.14263297
23	histone H4-K8 acetylation (GO:0043982)	4.14263297
24	regulation of microtubule-based movement (GO:0060632)	4.08728338
25	histone lysine demethylation (GO:0070076)	4.08715537
26	growth hormone receptor signaling pathway (GO:0060396)	4.05559219
27	histone H4-K16 acetylation (GO:0043984)	3.94838952
28	negative regulation of gene silencing (GO:0060969)	3.92967720
29	regulation of chromatin silencing (GO:0031935)	3.90900623
30	central nervous system neuron axonogenesis (GO:0021955)	3.90851715
31	positive regulation of dendritic spine morphogenesis (GO:0061003)	3.88703020
32	embryonic heart tube development (GO:0035050)	3.84080621
33	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.82348140
34	nucleus localization (GO:0051647)	3.81636838
35	synaptonemal complex organization (GO:0070193)	3.78134252
36	embryonic body morphogenesis (GO:0010172)	3.72751377
37	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	3.71516371
38	protein demethylation (GO:0006482)	3.69670713
39	protein dealkylation (GO:0008214)	3.69670713
40	meiotic nuclear division (GO:0007126)	3.68265064
41	attachment of spindle microtubules to kinetochore (GO:0008608)	3.58448379
42	regulation of transcription from RNA polymerase I promoter (GO:0006356)	3.57932622
43	neuron remodeling (GO:0016322)	3.57030306
44	cellular response to growth hormone stimulus (GO:0071378)	3.54837839
45	gene silencing by RNA (GO:0031047)	3.54829341
46	histone H3-K9 methylation (GO:0051567)	3.54040594
47	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	3.49618879
48	nerve growth factor signaling pathway (GO:0038180)	3.49234438
49	negative regulation of anoikis (GO:2000811)	3.48703200
50	histone H3-K9 modification (GO:0061647)	3.44459802
51	regulation of histone H3-K9 methylation (GO:0051570)	3.37364952
52	nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)	3.31969801
53	negative regulation of actin filament bundle assembly (GO:0032232)	3.31474788
54	protein K48-linked deubiquitination (GO:0071108)	3.30814662
55	protein localization to synapse (GO:0035418)	3.27751031
56	positive regulation of dendritic spine development (GO:0060999)	3.27009751
57	nucleobase catabolic process (GO:0046113)	3.26874875
58	meiosis I (GO:0007127)	3.24409009
59	regulation of somitogenesis (GO:0014807)	3.09513165
60	ephrin receptor signaling pathway (GO:0048013)	3.06855143
61	regulation of protein polyubiquitination (GO:1902914)	3.06734853
62	sex differentiation (GO:0007548)	3.06240650
63	heart morphogenesis (GO:0003007)	3.02825071
64	positive regulation of RNA splicing (GO:0033120)	3.01692351
65	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.00644399
66	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.00644399
67	regulation of translation, ncRNA-mediated (GO:0045974)	3.00644399
68	central nervous system projection neuron axonogenesis (GO:0021952)	2.95931177
69	microtubule anchoring (GO:0034453)	2.94330578
70	reflex (GO:0060004)	2.87127731
71	body morphogenesis (GO:0010171)	2.86740121
72	regulation of gene silencing (GO:0060968)	2.84495823
73	chemosensory behavior (GO:0007635)	2.83715527
74	endoderm formation (GO:0001706)	2.83552174
75	vocalization behavior (GO:0071625)	2.80991531
76	retina vasculature morphogenesis in camera-type eye (GO:0061299)	2.79171032
77	dendritic spine organization (GO:0097061)	2.77277442
78	protein K11-linked deubiquitination (GO:0035871)	2.75170789
79	negative regulation of oligodendrocyte differentiation (GO:0048715)	2.75120738
80	regulation of DNA damage checkpoint (GO:2000001)	2.74944662
81	regulation of NFAT protein import into nucleus (GO:0051532)	2.74922713
82	monoubiquitinated protein deubiquitination (GO:0035520)	2.74574843
83	protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	2.73775347
84	interkinetic nuclear migration (GO:0022027)	2.72195919
85	cellular response to reactive nitrogen species (GO:1902170)	2.69184903
86	Rac protein signal transduction (GO:0016601)	2.66646465
87	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	2.64685250
88	phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)	2.61978949
89	regulation of intracellular estrogen receptor signaling pathway (GO:0033146)	2.59872071
90	synaptic vesicle endocytosis (GO:0048488)	2.58831044
91	establishment of protein localization to Golgi (GO:0072600)	2.58376294
92	carnitine shuttle (GO:0006853)	2.58051382
93	negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)	2.56515850
94	behavioral response to nicotine (GO:0035095)	2.55369047
95	synaptic transmission, cholinergic (GO:0007271)	2.53742466
96	regulation of anoikis (GO:2000209)	2.53351673
97	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.53253036
98	genitalia morphogenesis (GO:0035112)	2.52341449
99	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	2.51749055
100	cilium or flagellum-dependent cell motility (GO:0001539)	2.51115500

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP53_16413492_ChIP-PET_HCT116_Human	3.62306441
2	RBPJ_22232070_ChIP-Seq_NCS_Mouse	3.61444212
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.46466836
4	SMAD_19615063_ChIP-ChIP_OVARY_Human	3.26976097
5	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.04115618
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.44101545
7	TAF15_26573619_Chip-Seq_HEK293_Human	2.40128882
8	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.39441030
9	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.32904848
10	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.25753306
11	RNF2_27304074_Chip-Seq_NSC_Mouse	2.23661351
12	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	2.20070931
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.02119384
14	STAT3_23295773_ChIP-Seq_U87_Human	1.94288667
15	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.93197346
16	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.90195343
17	FUS_26573619_Chip-Seq_HEK293_Human	1.89875610
18	GATA1_22025678_ChIP-Seq_K562_Human	1.73109509
19	RXR_22108803_ChIP-Seq_LS180_Human	1.62118444
20	SMAD4_21799915_ChIP-Seq_A2780_Human	1.60464619
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.57938828
22	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.56979592
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.54341101
24	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.54278878
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.54050727
26	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.53035473
27	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.51986913
28	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.51412254
29	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.51153489
30	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.50853074
31	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.50362834
32	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.47185257
33	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.47114645
34	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.46336287
35	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.43630766
36	TCF4_23295773_ChIP-Seq_U87_Human	1.43414803
37	ZNF274_21170338_ChIP-Seq_K562_Hela	1.43155795
38	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.40001671
39	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.38200115
40	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.38143052
41	CBP_20019798_ChIP-Seq_JUKART_Human	1.38143052
42	BCAT_22108803_ChIP-Seq_LS180_Human	1.37087422
43	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.36389414
44	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.31578820
45	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.29794637
46	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.28520206
47	RUNX2_22187159_ChIP-Seq_PCA_Human	1.27819249
48	AR_25329375_ChIP-Seq_VCAP_Human	1.26327110
49	EWS_26573619_Chip-Seq_HEK293_Human	1.25438252
50	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.24225412
51	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.22609986
52	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.21896955
53	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.21306695
54	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.20942892
55	AR_19668381_ChIP-Seq_PC3_Human	1.20731243
56	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20293641
57	P300_19829295_ChIP-Seq_ESCs_Human	1.18818372
58	ISL1_27105846_Chip-Seq_CPCs_Mouse	1.18601870
59	P300_18555785_Chip-Seq_ESCs_Mouse	1.18586435
60	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.15738926
61	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.15738926
62	SOX9_26525672_Chip-Seq_HEART_Mouse	1.13910087
63	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.12544245
64	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11963507
65	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.10592551
66	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.08509531
67	VDR_22108803_ChIP-Seq_LS180_Human	1.07133478
68	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06008158
69	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.03850739
70	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.03251246
71	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.02902474
72	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.02492690
73	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.00721679
74	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.99958725
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.99458783
76	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.99011835
77	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.97851283
78	FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human	0.97701306
79	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	0.97693681
80	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.96289723
81	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.95985202
82	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.95822537
83	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.95585434
84	KDM2B_26808549_Chip-Seq_REH_Human	0.95482036
85	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	0.95291356
86	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.94392211
87	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.93673925
88	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.93381556
89	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	0.92235422
90	KLF4_18555785_Chip-Seq_ESCs_Mouse	0.91969632
91	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.91924999
92	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.91881578
93	TP63_23658742_ChIP-Seq_EP156T_Human	0.91849293
94	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.90973489
95	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.89992474
96	ESRRB_18555785_Chip-Seq_ESCs_Mouse	0.89830035
97	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.89702597
98	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.89702597
99	NMYC_18555785_Chip-Seq_ESCs_Mouse	0.89548341
100	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.88749822

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005409_darkened_coat_color	4.94574958
2	MP0008877_abnormal_DNA_methylation	4.08309193
3	MP0002638_abnormal_pupillary_reflex	3.80985637
4	MP0000569_abnormal_digit_pigmentation	3.65055844
5	MP0003646_muscle_fatigue	3.56649543
6	MP0000383_abnormal_hair_follicle	2.89941980
7	MP0000372_irregular_coat_pigmentation	2.87266032
8	MP0000751_myopathy	2.85099131
9	MP0006276_abnormal_autonomic_nervous	2.77967063
10	MP0000015_abnormal_ear_pigmentation	2.73424903
11	MP0008995_early_reproductive_senescence	2.39572405
12	MP0000778_abnormal_nervous_system	2.26385859
13	MP0008057_abnormal_DNA_replication	2.15928292
14	MP0009046_muscle_twitch	2.06135380
15	MP0005174_abnormal_tail_pigmentation	1.95812351
16	MP0010678_abnormal_skin_adnexa	1.87276262
17	MP0002009_preneoplasia	1.83550287
18	MP0005394_taste/olfaction_phenotype	1.81161420
19	MP0005499_abnormal_olfactory_system	1.81161420
20	MP0004381_abnormal_hair_follicle	1.79892346
21	MP0000427_abnormal_hair_cycle	1.73470078
22	MP0003880_abnormal_central_pattern	1.70768414
23	MP0001986_abnormal_taste_sensitivity	1.66563310
24	MP0008260_abnormal_autophagy	1.58586161
25	MP0002269_muscular_atrophy	1.54991407
26	MP0002971_abnormal_brown_adipose	1.52195094
27	MP0003221_abnormal_cardiomyocyte_apopto	1.49403767
28	MP0004510_myositis	1.47531923
29	MP0000371_diluted_coat_color	1.45838762
30	MP0004270_analgesia	1.44098563
31	MP0001324_abnormal_eye_pigmentation	1.41413422
32	MP0001270_distended_abdomen	1.38037446
33	MP0004215_abnormal_myocardial_fiber	1.37292922
34	MP0002106_abnormal_muscle_physiology	1.35528858
35	MP0006072_abnormal_retinal_apoptosis	1.32969931
36	MP0001661_extended_life_span	1.29781921
37	MP0002067_abnormal_sensory_capabilities	1.28340720
38	MP0002210_abnormal_sex_determination	1.27929935
39	MP0003698_abnormal_male_reproductive	1.24867222
40	MP0000955_abnormal_spinal_cord	1.20767495
41	MP0005408_hypopigmentation	1.20451161
42	MP0005253_abnormal_eye_physiology	1.20269804
43	MP0004036_abnormal_muscle_relaxation	1.18437313
44	MP0002184_abnormal_innervation	1.14472166
45	MP0008789_abnormal_olfactory_epithelium	1.13976614
46	MP0005167_abnormal_blood-brain_barrier	1.13653742
47	MP0003937_abnormal_limbs/digits/tail_de	1.12456494
48	MP0009115_abnormal_fat_cell	1.10623058
49	MP0003890_abnormal_embryonic-extraembry	1.09954541
50	MP0003115_abnormal_respiratory_system	1.09910109
51	MP0004811_abnormal_neuron_physiology	1.08090115
52	MP0008004_abnormal_stomach_pH	1.07867399
53	MP0001929_abnormal_gametogenesis	1.07490703
54	MP0010386_abnormal_urinary_bladder	1.06957768
55	MP0005075_abnormal_melanosome_morpholog	1.05060898
56	MP0003137_abnormal_impulse_conducting	1.04063461
57	MP0004233_abnormal_muscle_weight	1.03949806
58	MP0000749_muscle_degeneration	1.02246878
59	MP0002089_abnormal_postnatal_growth/wei	1.01717643
60	MP0005310_abnormal_salivary_gland	0.99180692
61	MP0001879_abnormal_lymphatic_vessel	0.98391231
62	MP0005369_muscle_phenotype	0.96192608
63	MP0004084_abnormal_cardiac_muscle	0.95824260
64	MP0002752_abnormal_somatic_nervous	0.95563161
65	MP0001486_abnormal_startle_reflex	0.95509907
66	MP0002882_abnormal_neuron_morphology	0.94884229
67	MP0004142_abnormal_muscle_tone	0.92957553
68	MP0004484_altered_response_of	0.92780331
69	MP0002751_abnormal_autonomic_nervous	0.92064733
70	MP0000647_abnormal_sebaceous_gland	0.91973022
71	MP0001145_abnormal_male_reproductive	0.91039307
72	MP0002127_abnormal_cardiovascular_syste	0.88598080
73	MP0002160_abnormal_reproductive_system	0.87826780
74	MP0003763_abnormal_thymus_physiology	0.86756442
75	MP0003632_abnormal_nervous_system	0.86348767
76	MP0003828_pulmonary_edema	0.85617168
77	MP0002075_abnormal_coat/hair_pigmentati	0.84951391
78	MP0009840_abnormal_foam_cell	0.82320595
79	MP0006138_congestive_heart_failure	0.81997824
80	MP0004924_abnormal_behavior	0.81050876
81	MP0005386_behavior/neurological_phenoty	0.81050876
82	MP0001188_hyperpigmentation	0.80638513
83	MP0003119_abnormal_digestive_system	0.80591906
84	MP0000750_abnormal_muscle_regeneration	0.79642297
85	MP0003787_abnormal_imprinting	0.78663444
86	MP0005551_abnormal_eye_electrophysiolog	0.78311605
87	MP0000653_abnormal_sex_gland	0.78295655
88	MP0002272_abnormal_nervous_system	0.76221150
89	MP0003635_abnormal_synaptic_transmissio	0.75332975
90	MP0005171_absent_coat_pigmentation	0.74871975
91	MP0002063_abnormal_learning/memory/cond	0.74734491
92	MP0000013_abnormal_adipose_tissue	0.73442693
93	MP0002095_abnormal_skin_pigmentation	0.70832719
94	MP0002557_abnormal_social/conspecific_i	0.70378370
95	MP0003631_nervous_system_phenotype	0.69618979
96	MP0004145_abnormal_muscle_electrophysio	0.69536316
97	MP0009703_decreased_birth_body	0.68929982
98	MP0003690_abnormal_glial_cell	0.67470293
99	MP0003045_fibrosis	0.67215711
100	MP0005195_abnormal_posterior_eye	0.65349986

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Slow saccadic eye movements (HP:0000514)	6.02172206
2	Tongue fasciculations (HP:0001308)	5.58253292
3	Muscle fibrillation (HP:0010546)	4.91156529
4	Volvulus (HP:0002580)	4.56432114
5	Horizontal nystagmus (HP:0000666)	4.10038015
6	Abnormal protein glycosylation (HP:0012346)	4.09430950
7	Abnormal glycosylation (HP:0012345)	4.09430950
8	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	4.09430950
9	Abnormal protein N-linked glycosylation (HP:0012347)	4.09430950
10	Amyotrophic lateral sclerosis (HP:0007354)	3.87407138
11	Abnormality of the lower motor neuron (HP:0002366)	3.75389142
12	Submucous cleft hard palate (HP:0000176)	3.73878519
13	Impaired smooth pursuit (HP:0007772)	3.57233184
14	Type I transferrin isoform profile (HP:0003642)	3.33826860
15	Papilledema (HP:0001085)	3.29410125
16	Exotropia (HP:0000577)	3.23109605
17	Hyperkalemia (HP:0002153)	3.05261031
18	Genetic anticipation (HP:0003743)	3.04762585
19	Abnormality of ocular smooth pursuit (HP:0000617)	3.03557237
20	Abnormality of saccadic eye movements (HP:0000570)	2.98541755
21	Chronic hepatic failure (HP:0100626)	2.91067443
22	Shoulder girdle muscle weakness (HP:0003547)	2.90786041
23	Upper motor neuron abnormality (HP:0002127)	2.89167144
24	Adactyly (HP:0009776)	2.87645698
25	Rimmed vacuoles (HP:0003805)	2.77134917
26	Limb ataxia (HP:0002070)	2.75967988
27	Dysmetric saccades (HP:0000641)	2.73206353
28	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.67014497
29	Drooling (HP:0002307)	2.64734114
30	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.58120688
31	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.58120688
32	Absent hand (HP:0004050)	2.47226779
33	Absent eyebrow (HP:0002223)	2.46609718
34	Excessive salivation (HP:0003781)	2.45648716
35	Inability to walk (HP:0002540)	2.43250639
36	Aplasia/Hypoplasia of the brainstem (HP:0007362)	2.39293335
37	Hypoplasia of the brainstem (HP:0002365)	2.39293335
38	Urinary bladder sphincter dysfunction (HP:0002839)	2.38424851
39	Gait ataxia (HP:0002066)	2.34910234
40	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.32039352
41	Poor coordination (HP:0002370)	2.29032757
42	Abnormality of the corticospinal tract (HP:0002492)	2.26523536
43	Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)	2.26516296
44	Impaired vibration sensation in the lower limbs (HP:0002166)	2.23735070
45	Cutis marmorata (HP:0000965)	2.23520079
46	Fair hair (HP:0002286)	2.23139493
47	Subacute progressive viral hepatitis (HP:0006572)	2.19743614
48	External ophthalmoplegia (HP:0000544)	2.14463619
49	Medial flaring of the eyebrow (HP:0010747)	2.12545698
50	Lower limb muscle weakness (HP:0007340)	2.11922895
51	Down-sloping shoulders (HP:0200021)	2.10070367
52	Impaired vibratory sensation (HP:0002495)	2.09417412
53	Gaze-evoked nystagmus (HP:0000640)	2.06506909
54	Nephronophthisis (HP:0000090)	2.06002550
55	Congenital hepatic fibrosis (HP:0002612)	2.03398908
56	Gait imbalance (HP:0002141)	2.02555067
57	Congenital primary aphakia (HP:0007707)	1.98100131
58	Intellectual disability, moderate (HP:0002342)	1.96979569
59	Joint hemorrhage (HP:0005261)	1.93743847
60	Viral hepatitis (HP:0006562)	1.93493571
61	Oligodactyly (hands) (HP:0001180)	1.93437714
62	Absent eyelashes (HP:0000561)	1.91250384
63	Distal arthrogryposis (HP:0005684)	1.91218359
64	Nephrogenic diabetes insipidus (HP:0009806)	1.89236513
65	Autoamputation (HP:0001218)	1.89012762
66	Chin dimple (HP:0010751)	1.88127534
67	Abnormality of the renal medulla (HP:0100957)	1.87678922
68	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.87089576
69	Widely spaced teeth (HP:0000687)	1.86689165
70	Overlapping toe (HP:0001845)	1.84972629
71	Hyperventilation (HP:0002883)	1.83621650
72	Progressive external ophthalmoplegia (HP:0000590)	1.83283493
73	Pigmentary retinal degeneration (HP:0001146)	1.82103524
74	Syncope (HP:0001279)	1.80761940
75	Difficulty running (HP:0009046)	1.80541913
76	Abnormality of chloride homeostasis (HP:0011422)	1.79900101
77	Cystic liver disease (HP:0006706)	1.79565901
78	Absent speech (HP:0001344)	1.77123331
79	Abnormal finger flexion creases (HP:0006143)	1.75302780
80	Large hands (HP:0001176)	1.74704247
81	Tapered finger (HP:0001182)	1.73617055
82	Abnormality of salivation (HP:0100755)	1.73382254
83	Generalized hypopigmentation of hair (HP:0011358)	1.72629029
84	Blue irides (HP:0000635)	1.72473475
85	Urinary urgency (HP:0000012)	1.72032082
86	Molar tooth sign on MRI (HP:0002419)	1.71882137
87	Abnormality of midbrain morphology (HP:0002418)	1.71882137
88	Gonadotropin excess (HP:0000837)	1.71333367
89	Truncal obesity (HP:0001956)	1.68374098
90	Spastic paraplegia (HP:0001258)	1.67822614
91	True hermaphroditism (HP:0010459)	1.65911486
92	Progressive cerebellar ataxia (HP:0002073)	1.65818541
93	Hepatitis (HP:0012115)	1.65605670
94	Inappropriate behavior (HP:0000719)	1.65202054
95	Cortical dysplasia (HP:0002539)	1.64232653
96	Progressive inability to walk (HP:0002505)	1.61272486
97	Abnormality of the fingertips (HP:0001211)	1.60935244
98	Abnormality of the periventricular white matter (HP:0002518)	1.60899184
99	Disinhibition (HP:0000734)	1.60306215
100	Thoracolumbar scoliosis (HP:0002944)	1.60296090

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NEK1	7.21186932
2	PNCK	5.27528788
3	MAP4K2	5.05223273
4	BLK	4.27773404
5	MET	3.35428343
6	PTK2B	3.04927221
7	BMX	2.38045294
8	CAMK1G	2.34939205
9	FGR	2.19112925
10	CSF1R	2.12570014
11	MAP3K4	1.96147804
12	NEK2	1.75588191
13	MAPK13	1.56333482
14	DYRK1B	1.51480784
15	PRPF4B	1.46847324
16	PDGFRB	1.43113243
17	MAP3K6	1.37261844
18	MARK1	1.35424154
19	WNK3	1.31521216
20	MAP2K7	1.30915122
21	SGK2	1.30046554
22	EPHA4	1.27064743
23	PLK2	1.24491028
24	OXSR1	1.21237139
25	RET	1.18735759
26	CDK19	1.15692599
27	AKT3	1.08739467
28	PAK3	1.05908623
29	PLK4	1.04744643
30	BRD4	1.03352567
31	UHMK1	0.97443867
32	NTRK1	0.92571717
33	PTK2	0.90186312
34	YES1	0.88106731
35	MAP3K7	0.84130436
36	MAP3K10	0.83407234
37	BCR	0.80826361
38	SGK223	0.79589403
39	SGK494	0.79589403
40	EGFR	0.77847751
41	DYRK3	0.77458991
42	SGK3	0.75140647
43	CDK6	0.67798837
44	FRK	0.66882651
45	TIE1	0.66374210
46	CAMK4	0.66317676
47	PDK2	0.57978032
48	HCK	0.57949019
49	SYK	0.57718265
50	SIK2	0.57365726
51	SGK1	0.57300306
52	PRKAA1	0.57160435
53	MARK2	0.56669284
54	CDK3	0.55527296
55	MAPK4	0.55227344
56	NTRK2	0.55011914
57	TRIM28	0.54375918
58	NEK9	0.53512777
59	STK4	0.52652516
60	CDK12	0.51829901
61	PKN2	0.51663515
62	DYRK1A	0.51513832
63	GRK1	0.50130077
64	MATK	0.50126165
65	CAMK1	0.50116206
66	CASK	0.48155194
67	TNIK	0.46109714
68	TYK2	0.45741119
69	EIF2AK3	0.42908987
70	MARK3	0.42739900
71	OBSCN	0.42538896
72	CDK5	0.42456657
73	MAP2K4	0.39967467
74	LATS2	0.39825038
75	PRKD1	0.39327128
76	MAP3K5	0.39025960
77	RPS6KA4	0.38146995
78	STK24	0.36544603
79	MAPK7	0.35462328
80	MAPK10	0.35073875
81	ADRBK2	0.32823133
82	ATR	0.30959855
83	NEK6	0.30696975
84	MELK	0.26334587
85	PDGFRA	0.25196146
86	ADRBK1	0.24856752
87	TAF1	0.24035307
88	IGF1R	0.23719072
89	EPHA3	0.23501212
90	PRKAA2	0.23084518
91	STK11	0.22817332
92	CSNK1G2	0.21673398
93	WNK1	0.21635336
94	MAPK1	0.21208833
95	MAPK3	0.21015358
96	PIM1	0.20685331
97	MAPK12	0.20255861
98	PRKACB	0.20174210
99	ABL1	0.19205635
100	AKT2	0.19190585

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.80726022
2	Regulation of autophagy_Homo sapiens_hsa04140	2.37918730
3	ErbB signaling pathway_Homo sapiens_hsa04012	2.15993935
4	mRNA surveillance pathway_Homo sapiens_hsa03015	1.88899357
5	Fanconi anemia pathway_Homo sapiens_hsa03460	1.67877892
6	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.66948378
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.63558685
8	Small cell lung cancer_Homo sapiens_hsa05222	1.60250589
9	Axon guidance_Homo sapiens_hsa04360	1.54758867
10	Endometrial cancer_Homo sapiens_hsa05213	1.53744227
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.52403239
12	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	1.49582582
13	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	1.41211857
14	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.38922797
15	Nicotine addiction_Homo sapiens_hsa05033	1.37086262
16	Choline metabolism in cancer_Homo sapiens_hsa05231	1.34098319
17	ABC transporters_Homo sapiens_hsa02010	1.33808814
18	mTOR signaling pathway_Homo sapiens_hsa04150	1.30565589
19	Neurotrophin signaling pathway_Homo sapiens_hsa04722	1.29396014
20	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.27246439
21	Glutamatergic synapse_Homo sapiens_hsa04724	1.26949443
22	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.26092305
23	Chronic myeloid leukemia_Homo sapiens_hsa05220	1.24923397
24	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.24250538
25	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.23959085
26	Taste transduction_Homo sapiens_hsa04742	1.23507967
27	AMPK signaling pathway_Homo sapiens_hsa04152	1.23238326
28	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.20812973
29	RNA degradation_Homo sapiens_hsa03018	1.20379249
30	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.19951662
31	Olfactory transduction_Homo sapiens_hsa04740	1.19673148
32	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.19336915
33	Circadian rhythm_Homo sapiens_hsa04710	1.18159996
34	Inositol phosphate metabolism_Homo sapiens_hsa00562	1.14618659
35	Non-small cell lung cancer_Homo sapiens_hsa05223	1.13385870
36	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.12549886
37	Ether lipid metabolism_Homo sapiens_hsa00565	1.07283033
38	Viral myocarditis_Homo sapiens_hsa05416	1.02942655
39	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.97995931
40	Type II diabetes mellitus_Homo sapiens_hsa04930	0.96797596
41	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.96422407
42	Cholinergic synapse_Homo sapiens_hsa04725	0.96293451
43	Linoleic acid metabolism_Homo sapiens_hsa00591	0.96095400
44	Fatty acid metabolism_Homo sapiens_hsa01212	0.95981139
45	Prostate cancer_Homo sapiens_hsa05215	0.94897102
46	Estrogen signaling pathway_Homo sapiens_hsa04915	0.91863412
47	Cocaine addiction_Homo sapiens_hsa05030	0.87760900
48	Lysine degradation_Homo sapiens_hsa00310	0.87435960
49	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.85076110
50	FoxO signaling pathway_Homo sapiens_hsa04068	0.84963726
51	Colorectal cancer_Homo sapiens_hsa05210	0.82577560
52	MAPK signaling pathway_Homo sapiens_hsa04010	0.82104304
53	RNA transport_Homo sapiens_hsa03013	0.81175386
54	MicroRNAs in cancer_Homo sapiens_hsa05206	0.80360926
55	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.80156429
56	Focal adhesion_Homo sapiens_hsa04510	0.79958135
57	Osteoclast differentiation_Homo sapiens_hsa04380	0.79533904
58	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.79290048
59	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.77314675
60	Adherens junction_Homo sapiens_hsa04520	0.76881990
61	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.76163783
62	Glioma_Homo sapiens_hsa05214	0.75901510
63	Ras signaling pathway_Homo sapiens_hsa04014	0.75429963
64	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.75240021
65	Gastric acid secretion_Homo sapiens_hsa04971	0.72390897
66	Insulin signaling pathway_Homo sapiens_hsa04910	0.70977433
67	Prolactin signaling pathway_Homo sapiens_hsa04917	0.70443708
68	Calcium signaling pathway_Homo sapiens_hsa04020	0.70230227
69	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.67544485
70	Insulin resistance_Homo sapiens_hsa04931	0.66173256
71	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.63925194
72	Apoptosis_Homo sapiens_hsa04210	0.63573481
73	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.63146226
74	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.62215702
75	Influenza A_Homo sapiens_hsa05164	0.62152902
76	VEGF signaling pathway_Homo sapiens_hsa04370	0.61697616
77	Alcoholism_Homo sapiens_hsa05034	0.61127495
78	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.61102120
79	Chemokine signaling pathway_Homo sapiens_hsa04062	0.59925966
80	Insulin secretion_Homo sapiens_hsa04911	0.59322706
81	Salivary secretion_Homo sapiens_hsa04970	0.58913166
82	Toxoplasmosis_Homo sapiens_hsa05145	0.58351150
83	Fat digestion and absorption_Homo sapiens_hsa04975	0.58327095
84	Gap junction_Homo sapiens_hsa04540	0.57629161
85	cAMP signaling pathway_Homo sapiens_hsa04024	0.57346445
86	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.55111445
87	Steroid biosynthesis_Homo sapiens_hsa00100	0.54459977
88	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.54359295
89	Acute myeloid leukemia_Homo sapiens_hsa05221	0.53344832
90	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.52028096
91	Hepatitis C_Homo sapiens_hsa05160	0.50545549
92	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.49538643
93	Pancreatic secretion_Homo sapiens_hsa04972	0.49477121
94	Hepatitis B_Homo sapiens_hsa05161	0.49091454
95	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.48676302
96	Renal cell carcinoma_Homo sapiens_hsa05211	0.47720900
97	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.47705855
98	Pathways in cancer_Homo sapiens_hsa05200	0.45428304
99	GnRH signaling pathway_Homo sapiens_hsa04912	0.44469629
100	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.42656254

PHACTR2P1

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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