ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of cytosolic calcium ion concentration (GO:0051481)	5.32728002
2	behavioral response to nicotine (GO:0035095)	4.87562040
3	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.81170265
4	NADH dehydrogenase complex assembly (GO:0010257)	4.81170265
5	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.81170265
6	cellular response to ATP (GO:0071318)	4.72789842
7	protein complex biogenesis (GO:0070271)	4.57104875
8	gamma-aminobutyric acid transport (GO:0015812)	4.49355504
9	alanine transport (GO:0032328)	4.36123560
10	viral transcription (GO:0019083)	4.15369762
11	regulation of female gonad development (GO:2000194)	4.15356948
12	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.13350340
13	translational termination (GO:0006415)	4.02488025
14	mitochondrial respiratory chain complex assembly (GO:0033108)	3.95916852
15	activated T cell proliferation (GO:0050798)	3.94548625
16	sulfation (GO:0051923)	3.88908443
17	nephron epithelium morphogenesis (GO:0072088)	3.73359474
18	nephron tubule morphogenesis (GO:0072078)	3.73359474
19	epithelial cilium movement (GO:0003351)	3.72038748
20	forebrain neuron differentiation (GO:0021879)	3.68702230
21	gonadal mesoderm development (GO:0007506)	3.64313769
22	ATP synthesis coupled proton transport (GO:0015986)	3.57614831
23	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.57614831
24	phosphorelay signal transduction system (GO:0000160)	3.56031370
25	protein neddylation (GO:0045116)	3.54595779
26	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.50379145
27	regulation of glucokinase activity (GO:0033131)	3.36595287
28	regulation of hexokinase activity (GO:1903299)	3.36595287
29	positive regulation of gastrulation (GO:2000543)	3.35702799
30	neuronal stem cell maintenance (GO:0097150)	3.32937772
31	reflex (GO:0060004)	3.28831662
32	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.27312079
33	ionotropic glutamate receptor signaling pathway (GO:0035235)	3.21830629
34	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.21302088
35	cotranslational protein targeting to membrane (GO:0006613)	3.18013476
36	translational elongation (GO:0006414)	3.16318728
37	ribosomal small subunit assembly (GO:0000028)	3.14599431
38	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.11631410
39	protein targeting to ER (GO:0045047)	3.07157176
40	renal tubule morphogenesis (GO:0061333)	3.05023735
41	presynaptic membrane organization (GO:0097090)	3.03675956
42	response to pheromone (GO:0019236)	3.02429630
43	neuron cell-cell adhesion (GO:0007158)	3.01766379
44	fucose catabolic process (GO:0019317)	3.00661799
45	L-fucose metabolic process (GO:0042354)	3.00661799
46	L-fucose catabolic process (GO:0042355)	3.00661799
47	negative regulation of heart rate (GO:0010459)	2.94459672
48	cellular protein complex disassembly (GO:0043624)	2.94416377
49	dentate gyrus development (GO:0021542)	2.93693019
50	electron transport chain (GO:0022900)	2.92537622
51	spinal cord development (GO:0021510)	2.91725866
52	neuronal action potential (GO:0019228)	2.91455642
53	synaptic transmission, cholinergic (GO:0007271)	2.90828552
54	L-serine transport (GO:0015825)	2.90076064
55	respiratory electron transport chain (GO:0022904)	2.89509524
56	positive regulation of male gonad development (GO:2000020)	2.89005496
57	negative regulation of telomere maintenance (GO:0032205)	2.88598850
58	ribosomal small subunit biogenesis (GO:0042274)	2.87656732
59	protein localization to endoplasmic reticulum (GO:0070972)	2.85485830
60	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.85164962
61	retinal ganglion cell axon guidance (GO:0031290)	2.83854402
62	maturation of SSU-rRNA (GO:0030490)	2.82285909
63	sequestering of actin monomers (GO:0042989)	2.81965316
64	cardiovascular system development (GO:0072358)	2.81153499
65	regulation of male gonad development (GO:2000018)	2.79342002
66	viral life cycle (GO:0019058)	2.75886850
67	somite rostral/caudal axis specification (GO:0032525)	2.75624974
68	presynaptic membrane assembly (GO:0097105)	2.74671141
69	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.73804230
70	positive regulation of heart rate (GO:0010460)	2.73064119
71	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.72527011
72	primitive streak formation (GO:0090009)	2.71253124
73	cilium movement (GO:0003341)	2.71172360
74	spinal cord association neuron differentiation (GO:0021527)	2.69600567
75	tachykinin receptor signaling pathway (GO:0007217)	2.69064120
76	piRNA metabolic process (GO:0034587)	2.68227778
77	kynurenine metabolic process (GO:0070189)	2.66717785
78	pseudouridine synthesis (GO:0001522)	2.66486657
79	transmission of nerve impulse (GO:0019226)	2.65748923
80	serine transport (GO:0032329)	2.65241041
81	histone H4-K12 acetylation (GO:0043983)	2.64944460
82	serotonin metabolic process (GO:0042428)	2.60647787
83	centriole replication (GO:0007099)	2.60169375
84	vocalization behavior (GO:0071625)	2.59732885
85	membrane depolarization during action potential (GO:0086010)	2.58800959
86	positive regulation of fatty acid transport (GO:2000193)	2.58092078
87	ventricular septum morphogenesis (GO:0060412)	2.58034413
88	glutamate receptor signaling pathway (GO:0007215)	2.56361705
89	primary amino compound metabolic process (GO:1901160)	2.55179987
90	synaptic transmission, glutamatergic (GO:0035249)	2.54958070
91	preassembly of GPI anchor in ER membrane (GO:0016254)	2.54953362
92	cytochrome complex assembly (GO:0017004)	2.54462462
93	axonemal dynein complex assembly (GO:0070286)	2.54300240
94	rRNA methylation (GO:0031167)	2.54026818
95	platelet dense granule organization (GO:0060155)	2.52535277
96	phenylpropanoid metabolic process (GO:0009698)	2.52424454
97	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.51363114
98	adult feeding behavior (GO:0008343)	2.51275283
99	cell morphogenesis involved in neuron differentiation (GO:0048667)	2.50507278
100	limb development (GO:0060173)	2.48931191

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.86199549
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.93845801
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.87946128
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.81205884
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.70420852
6	VDR_22108803_ChIP-Seq_LS180_Human	2.52974008
7	EWS_26573619_Chip-Seq_HEK293_Human	2.52909512
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.52561128
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.48292757
10	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.45319611
11	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.44257275
12	FUS_26573619_Chip-Seq_HEK293_Human	2.41130522
13	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.38800463
14	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.31386153
15	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.18889269
16	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.17088239
17	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.14930950
18	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.14051654
19	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.12369873
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09228129
21	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.09021369
22	TAF15_26573619_Chip-Seq_HEK293_Human	2.07215664
23	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.07157398
24	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.04402894
25	RNF2_27304074_Chip-Seq_NSC_Mouse	2.00504398
26	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.85739167
27	REST_21632747_ChIP-Seq_MESCs_Mouse	1.82006685
28	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.80720524
29	ER_23166858_ChIP-Seq_MCF-7_Human	1.73916025
30	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.72823524
31	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.69797144
32	P300_19829295_ChIP-Seq_ESCs_Human	1.68556115
33	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.66800958
34	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.66800958
35	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.66633936
36	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.65175336
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.64133108
38	AR_21572438_ChIP-Seq_LNCaP_Human	1.63534494
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.62526749
40	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.61151180
41	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.59203234
42	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.53336808
43	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50522402
44	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.50003486
45	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.46744601
46	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.45690974
47	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.45214636
48	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.40988579
49	MYC_18940864_ChIP-ChIP_HL60_Human	1.40720384
50	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.37555095
51	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.36608380
52	TP53_22573176_ChIP-Seq_HFKS_Human	1.35691203
53	AR_25329375_ChIP-Seq_VCAP_Human	1.35480808
54	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.34319976
55	CBP_20019798_ChIP-Seq_JUKART_Human	1.32235632
56	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.32235632
57	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.29530257
58	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27342505
59	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.26794026
60	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.26794026
61	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.26433318
62	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.26246835
63	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22505969
64	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.22159954
65	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.20751907
66	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.19608860
67	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.16601408
68	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.15650388
69	SMAD4_21799915_ChIP-Seq_A2780_Human	1.15595627
70	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.15516352
71	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.11849949
72	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.11754752
73	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.08412018
74	IRF1_19129219_ChIP-ChIP_H3396_Human	1.07517206
75	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.07300522
76	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06495263
77	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.06436480
78	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.06119665
79	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.03463172
80	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.02612831
81	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.01642173
82	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.01457285
83	SOX2_19829295_ChIP-Seq_ESCs_Human	1.00592466
84	NANOG_19829295_ChIP-Seq_ESCs_Human	1.00592466
85	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.99881137
86	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.99499996
87	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97906199
88	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.97857448
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.96745504
90	STAT3_23295773_ChIP-Seq_U87_Human	0.95904231
91	RUNX2_22187159_ChIP-Seq_PCA_Human	0.94894062
92	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.93534552
93	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.91992911
94	ESR1_15608294_ChIP-ChIP_MCF-7_Human	0.90409105
95	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.90283975
96	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.89768280
97	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.89768280
98	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.89595155
99	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.87877332
100	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.87446346

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005646_abnormal_pituitary_gland	3.63830432
2	MP0005645_abnormal_hypothalamus_physiol	3.02251556
3	MP0006292_abnormal_olfactory_placode	3.01561727
4	MP0009379_abnormal_foot_pigmentation	2.87051746
5	MP0005423_abnormal_somatic_nervous	2.69907363
6	MP0002277_abnormal_respiratory_mucosa	2.60886162
7	MP0002102_abnormal_ear_morphology	2.58837187
8	MP0009046_muscle_twitch	2.48368622
9	MP0003880_abnormal_central_pattern	2.35819511
10	MP0006072_abnormal_retinal_apoptosis	2.21801257
11	MP0005551_abnormal_eye_electrophysiolog	2.04058076
12	MP0003011_delayed_dark_adaptation	2.03960538
13	MP0002272_abnormal_nervous_system	2.03694405
14	MP0005253_abnormal_eye_physiology	1.94661198
15	MP0000631_abnormal_neuroendocrine_gland	1.93013173
16	MP0004885_abnormal_endolymph	1.91848517
17	MP0001485_abnormal_pinna_reflex	1.87991137
18	MP0008875_abnormal_xenobiotic_pharmacok	1.87699815
19	MP0001188_hyperpigmentation	1.85630611
20	MP0004133_heterotaxia	1.83058710
21	MP0006276_abnormal_autonomic_nervous	1.82242040
22	MP0009745_abnormal_behavioral_response	1.80836627
23	MP0004043_abnormal_pH_regulation	1.80825679
24	MP0004142_abnormal_muscle_tone	1.79683307
25	MP0001968_abnormal_touch/_nociception	1.74293374
26	MP0002163_abnormal_gland_morphology	1.68260965
27	MP0002735_abnormal_chemical_nociception	1.65380171
28	MP0001346_abnormal_lacrimal_gland	1.64322981
29	MP0003195_calcinosis	1.63792283
30	MP0001440_abnormal_grooming_behavior	1.62228755
31	MP0002736_abnormal_nociception_after	1.60664171
32	MP0003635_abnormal_synaptic_transmissio	1.60426665
33	MP0002064_seizures	1.60386298
34	MP0001529_abnormal_vocalization	1.59619351
35	MP0002138_abnormal_hepatobiliary_system	1.57956019
36	MP0003646_muscle_fatigue	1.57876298
37	MP0008995_early_reproductive_senescence	1.50377828
38	MP0002734_abnormal_mechanical_nocicepti	1.49756680
39	MP0002733_abnormal_thermal_nociception	1.45429883
40	MP0000778_abnormal_nervous_system	1.43448316
41	MP0002067_abnormal_sensory_capabilities	1.41876756
42	MP0002572_abnormal_emotion/affect_behav	1.39383781
43	MP0001486_abnormal_startle_reflex	1.36417617
44	MP0002653_abnormal_ependyma_morphology	1.32208668
45	MP0001905_abnormal_dopamine_level	1.31392433
46	MP0008872_abnormal_physiological_respon	1.30218724
47	MP0005084_abnormal_gallbladder_morpholo	1.27329879
48	MP0000566_synostosis	1.27231220
49	MP0001970_abnormal_pain_threshold	1.27079158
50	MP0002876_abnormal_thyroid_physiology	1.26672091
51	MP0010386_abnormal_urinary_bladder	1.25302739
52	MP0002938_white_spotting	1.23705112
53	MP0002160_abnormal_reproductive_system	1.23442710
54	MP0000372_irregular_coat_pigmentation	1.21602234
55	MP0003890_abnormal_embryonic-extraembry	1.21184621
56	MP0008877_abnormal_DNA_methylation	1.16517037
57	MP0005410_abnormal_fertilization	1.07518809
58	MP0002557_abnormal_social/conspecific_i	1.05974949
59	MP0005391_vision/eye_phenotype	1.05506999
60	MP0002127_abnormal_cardiovascular_syste	1.03902649
61	MP0001984_abnormal_olfaction	1.03117723
62	MP0005389_reproductive_system_phenotype	1.02049672
63	MP0005195_abnormal_posterior_eye	1.00475043
64	MP0003693_abnormal_embryo_hatching	0.97624960
65	MP0003878_abnormal_ear_physiology	0.96331364
66	MP0005377_hearing/vestibular/ear_phenot	0.96331364
67	MP0004742_abnormal_vestibular_system	0.96067815
68	MP0005595_abnormal_vascular_smooth	0.94654037
69	MP0003329_amyloid_beta_deposits	0.94406153
70	MP0004215_abnormal_myocardial_fiber	0.93424377
71	MP0003119_abnormal_digestive_system	0.92868861
72	MP0002063_abnormal_learning/memory/cond	0.92193449
73	MP0001986_abnormal_taste_sensitivity	0.90041529
74	MP0002752_abnormal_somatic_nervous	0.89837895
75	MP0000026_abnormal_inner_ear	0.89644652
76	MP0004270_analgesia	0.86115269
77	MP0003638_abnormal_response/metabolism_	0.85744526
78	MP0005386_behavior/neurological_phenoty	0.85201110
79	MP0004924_abnormal_behavior	0.85201110
80	MP0001919_abnormal_reproductive_system	0.84093214
81	MP0003136_yellow_coat_color	0.83934712
82	MP0008961_abnormal_basal_metabolism	0.83832355
83	MP0004085_abnormal_heartbeat	0.83250840
84	MP0005647_abnormal_sex_gland	0.83124627
85	MP0001502_abnormal_circadian_rhythm	0.82758797
86	MP0000049_abnormal_middle_ear	0.82045348
87	MP0004145_abnormal_muscle_electrophysio	0.82032105
88	MP0003183_abnormal_peptide_metabolism	0.81998367
89	MP0009250_abnormal_appendicular_skeleto	0.81208262
90	MP0002837_dystrophic_cardiac_calcinosis	0.81155888
91	MP0000955_abnormal_spinal_cord	0.80982987
92	MP0002184_abnormal_innervation	0.80812657
93	MP0002139_abnormal_hepatobiliary_system	0.80794410
94	MP0003567_abnormal_fetal_cardiomyocyte	0.80563849
95	MP0000470_abnormal_stomach_morphology	0.80215416
96	MP0002751_abnormal_autonomic_nervous	0.78239517
97	MP0002882_abnormal_neuron_morphology	0.76989410
98	MP0003385_abnormal_body_wall	0.75581015
99	MP0002638_abnormal_pupillary_reflex	0.75345991
100	MP0001879_abnormal_lymphatic_vessel	0.74560776

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	4.53826435
2	Pancreatic cysts (HP:0001737)	3.87735622
3	True hermaphroditism (HP:0010459)	3.85731334
4	Pancreatic fibrosis (HP:0100732)	3.72530973
5	Duplicated collecting system (HP:0000081)	3.41879661
6	Acute necrotizing encephalopathy (HP:0006965)	3.34124583
7	Midline defect of the nose (HP:0004122)	3.27482115
8	Sclerocornea (HP:0000647)	3.22783854
9	Abnormality of the renal collecting system (HP:0004742)	3.22270903
10	Nephronophthisis (HP:0000090)	3.20651152
11	Congenital, generalized hypertrichosis (HP:0004540)	3.16139700
12	Medial flaring of the eyebrow (HP:0010747)	3.07389889
13	Mitochondrial inheritance (HP:0001427)	3.01099202
14	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.97868545
15	Abnormality of alanine metabolism (HP:0010916)	2.97868545
16	Hyperalaninemia (HP:0003348)	2.97868545
17	Abnormal number of erythroid precursors (HP:0012131)	2.95565636
18	Acute encephalopathy (HP:0006846)	2.91896344
19	Abnormality of midbrain morphology (HP:0002418)	2.86014829
20	Molar tooth sign on MRI (HP:0002419)	2.86014829
21	Abnormal mitochondria in muscle tissue (HP:0008316)	2.84323147
22	Hepatocellular necrosis (HP:0001404)	2.79753428
23	Progressive macrocephaly (HP:0004481)	2.77998142
24	Neuroendocrine neoplasm (HP:0100634)	2.76231498
25	Pendular nystagmus (HP:0012043)	2.74237218
26	Pheochromocytoma (HP:0002666)	2.62513946
27	Nephrogenic diabetes insipidus (HP:0009806)	2.60287973
28	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.60184197
29	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.60184197
30	Gait imbalance (HP:0002141)	2.59892676
31	Abnormality of cells of the erythroid lineage (HP:0012130)	2.59098907
32	3-Methylglutaconic aciduria (HP:0003535)	2.58823378
33	Amblyopia (HP:0000646)	2.57146253
34	Large for gestational age (HP:0001520)	2.50514705
35	Furrowed tongue (HP:0000221)	2.46344293
36	Increased CSF lactate (HP:0002490)	2.45878158
37	Cystic liver disease (HP:0006706)	2.45721502
38	Reticulocytopenia (HP:0001896)	2.42824632
39	Abnormality of the renal medulla (HP:0100957)	2.36748526
40	Congenital primary aphakia (HP:0007707)	2.35432041
41	Anencephaly (HP:0002323)	2.30331882
42	Hepatic necrosis (HP:0002605)	2.26913300
43	Mesangial abnormality (HP:0001966)	2.20887945
44	Prominent supraorbital ridges (HP:0000336)	2.18522135
45	Type II lissencephaly (HP:0007260)	2.18237001
46	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.17695287
47	Limb dystonia (HP:0002451)	2.15911578
48	Patellar aplasia (HP:0006443)	2.15250971
49	Aplasia/Hypoplasia of the patella (HP:0006498)	2.14174056
50	Abdominal situs inversus (HP:0003363)	2.12630539
51	Abnormality of abdominal situs (HP:0011620)	2.12630539
52	Birth length less than 3rd percentile (HP:0003561)	2.12490016
53	Preaxial hand polydactyly (HP:0001177)	2.10594667
54	Gaze-evoked nystagmus (HP:0000640)	2.09305253
55	Increased hepatocellular lipid droplets (HP:0006565)	2.07630111
56	Opisthotonus (HP:0002179)	2.07002755
57	Cerebral edema (HP:0002181)	2.03284207
58	Occipital encephalocele (HP:0002085)	2.01265207
59	Increased number of teeth (HP:0011069)	2.00511103
60	Abnormal respiratory motile cilium physiology (HP:0012261)	1.99271519
61	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.98870298
62	Lissencephaly (HP:0001339)	1.98824402
63	Male pseudohermaphroditism (HP:0000037)	1.97856581
64	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.97759357
65	Lipid accumulation in hepatocytes (HP:0006561)	1.96660365
66	Macrocytic anemia (HP:0001972)	1.95802749
67	High anterior hairline (HP:0009890)	1.94849613
68	Inability to walk (HP:0002540)	1.94213523
69	Abolished electroretinogram (ERG) (HP:0000550)	1.93683805
70	Renal Fanconi syndrome (HP:0001994)	1.93135867
71	Congenital hepatic fibrosis (HP:0002612)	1.90916751
72	Abnormal ciliary motility (HP:0012262)	1.90765926
73	Optic nerve hypoplasia (HP:0000609)	1.89095330
74	Concave nail (HP:0001598)	1.88969513
75	Hemiparesis (HP:0001269)	1.88364606
76	Tubulointerstitial nephritis (HP:0001970)	1.86748715
77	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.85621185
78	Genital tract atresia (HP:0001827)	1.83936054
79	Spastic tetraparesis (HP:0001285)	1.83184432
80	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.82507149
81	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.81586427
82	Absent thumb (HP:0009777)	1.81161991
83	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.81043870
84	Poor coordination (HP:0002370)	1.79101264
85	Abnormal rod and cone electroretinograms (HP:0008323)	1.78734339
86	Delayed myelination (HP:0012448)	1.75555836
87	Abnormal respiratory motile cilium morphology (HP:0005938)	1.75019846
88	Abnormal respiratory epithelium morphology (HP:0012253)	1.75019846
89	Left ventricular hypertrophy (HP:0001712)	1.74072831
90	Aplasia/Hypoplasia of the hallux (HP:0008362)	1.73982615
91	Optic disc pallor (HP:0000543)	1.71021868
92	Increased corneal curvature (HP:0100692)	1.69268068
93	Keratoconus (HP:0000563)	1.69268068
94	Short tibia (HP:0005736)	1.68445986
95	Median cleft lip (HP:0000161)	1.67594356
96	Tinnitus (HP:0000360)	1.67163680
97	Delayed CNS myelination (HP:0002188)	1.66594076
98	Tubular atrophy (HP:0000092)	1.66400465
99	Vaginal atresia (HP:0000148)	1.66119670
100	Anterior segment dysgenesis (HP:0007700)	1.65862347

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	5.18115256
2	GRK1	3.57936812
3	TAF1	3.12208948
4	CDK19	2.85307171
5	MAPK13	2.76760694
6	ADRBK2	2.67237158
7	ZAK	2.11273291
8	MAPKAPK3	1.98754172
9	PNCK	1.93289748
10	TLK1	1.90269286
11	MAPKAPK5	1.87555061
12	PASK	1.86416139
13	TXK	1.77641594
14	DYRK2	1.71561710
15	PINK1	1.69500845
16	FRK	1.66609971
17	MARK1	1.65465946
18	VRK2	1.62394588
19	TGFBR1	1.58228763
20	MAP3K4	1.54476898
21	MAP2K7	1.50125297
22	MKNK1	1.48795443
23	BMPR1B	1.47889615
24	EPHB2	1.44106241
25	WNK3	1.43603474
26	ADRBK1	1.43397687
27	WNK4	1.23833034
28	CSNK1G2	1.22063127
29	CSNK1G3	1.19625128
30	CSNK1G1	1.18109356
31	PRKCG	1.18028989
32	VRK1	1.13686928
33	TNIK	1.12131939
34	MAPK15	1.08075573
35	MAP3K11	1.05404878
36	PAK3	1.04413461
37	PHKG1	1.03957636
38	PHKG2	1.03957636
39	TESK2	0.99671354
40	TEC	0.99277932
41	CDC7	0.98847922
42	CHEK2	0.93292389
43	CSF1R	0.90377459
44	CSNK1A1L	0.89035761
45	PDK2	0.88784270
46	CAMK2A	0.86541522
47	BUB1	0.85439920
48	DYRK1B	0.85225266
49	STK24	0.82703263
50	PRKCQ	0.78211520
51	MAP4K2	0.78171531
52	DAPK1	0.78021083
53	CDK3	0.75089994
54	TESK1	0.73768977
55	DAPK2	0.71402782
56	CASK	0.70694067
57	NTRK2	0.65924580
58	PRKACA	0.64579306
59	MAPK11	0.64516642
60	NEK2	0.64295628
61	RPS6KA6	0.63213800
62	CDK8	0.61440512
63	PRKCE	0.60636360
64	INSRR	0.60068518
65	LIMK1	0.59504901
66	PLK1	0.58792789
67	KIT	0.58274804
68	TNK2	0.58042911
69	MAPK12	0.57435260
70	IKBKB	0.56728044
71	CHUK	0.56432232
72	SIK2	0.55228987
73	MAP2K6	0.54935421
74	AURKA	0.53680130
75	GRK7	0.52614112
76	MUSK	0.52169829
77	CSNK1A1	0.51947742
78	IKBKE	0.48895161
79	OXSR1	0.48812169
80	CSNK1D	0.48773963
81	OBSCN	0.48736372
82	CAMK2B	0.48552811
83	WEE1	0.48452031
84	MST4	0.47990745
85	AKT2	0.47119179
86	MKNK2	0.44777746
87	STK3	0.43933495
88	PRKCZ	0.43829906
89	PRKACG	0.43798241
90	MATK	0.43662374
91	PKN1	0.41999018
92	UHMK1	0.41865985
93	SGK494	0.40802818
94	SGK223	0.40802818
95	MAP2K4	0.40774929
96	BCKDK	0.40102673
97	MAPK7	0.39951697
98	ABL2	0.38843122
99	PRKCA	0.37820128
100	LMTK2	0.37435104

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	4.02265533
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.52725881
3	Nicotine addiction_Homo sapiens_hsa05033	3.27129000
4	Parkinsons disease_Homo sapiens_hsa05012	3.04500671
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.83518706
6	Alzheimers disease_Homo sapiens_hsa05010	2.45458794
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.39676920
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.31755274
9	Sulfur relay system_Homo sapiens_hsa04122	2.24673231
10	Phototransduction_Homo sapiens_hsa04744	1.98476419
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.93403270
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.91402722
13	Cardiac muscle contraction_Homo sapiens_hsa04260	1.91241106
14	Caffeine metabolism_Homo sapiens_hsa00232	1.90673599
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.88617790
16	Huntingtons disease_Homo sapiens_hsa05016	1.85092931
17	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.73202841
18	Asthma_Homo sapiens_hsa05310	1.73043197
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.62721096
20	Circadian entrainment_Homo sapiens_hsa04713	1.62661902
21	Olfactory transduction_Homo sapiens_hsa04740	1.59781178
22	Long-term depression_Homo sapiens_hsa04730	1.53975194
23	Fanconi anemia pathway_Homo sapiens_hsa03460	1.48108504
24	Selenocompound metabolism_Homo sapiens_hsa00450	1.47484806
25	Glutamatergic synapse_Homo sapiens_hsa04724	1.45892684
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.44292060
27	Ether lipid metabolism_Homo sapiens_hsa00565	1.43281473
28	Homologous recombination_Homo sapiens_hsa03440	1.42164520
29	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.38777705
30	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.38644506
31	Tryptophan metabolism_Homo sapiens_hsa00380	1.37406368
32	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.32381180
33	Morphine addiction_Homo sapiens_hsa05032	1.28584576
34	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.25296182
35	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.24895109
36	Taste transduction_Homo sapiens_hsa04742	1.21418536
37	One carbon pool by folate_Homo sapiens_hsa00670	1.19614291
38	RNA polymerase_Homo sapiens_hsa03020	1.18781030
39	Fat digestion and absorption_Homo sapiens_hsa04975	1.07290819
40	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.07208841
41	Proteasome_Homo sapiens_hsa03050	1.06756743
42	Serotonergic synapse_Homo sapiens_hsa04726	1.05442963
43	Butanoate metabolism_Homo sapiens_hsa00650	1.04032088
44	Chemical carcinogenesis_Homo sapiens_hsa05204	0.99533759
45	Cocaine addiction_Homo sapiens_hsa05030	0.97706102
46	Type I diabetes mellitus_Homo sapiens_hsa04940	0.95294643
47	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.93082749
48	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.88428220
49	Protein export_Homo sapiens_hsa03060	0.88250361
50	Retinol metabolism_Homo sapiens_hsa00830	0.86592098
51	GABAergic synapse_Homo sapiens_hsa04727	0.85048254
52	Salivary secretion_Homo sapiens_hsa04970	0.84160124
53	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.83116688
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.82025065
55	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.81359515
56	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.81290454
57	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.80176719
58	Amphetamine addiction_Homo sapiens_hsa05031	0.77519262
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.77071107
60	Calcium signaling pathway_Homo sapiens_hsa04020	0.76139768
61	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.73356190
62	Allograft rejection_Homo sapiens_hsa05330	0.71241606
63	Graft-versus-host disease_Homo sapiens_hsa05332	0.69169867
64	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.68616489
65	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.67879198
66	Basal transcription factors_Homo sapiens_hsa03022	0.66045747
67	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.65326370
68	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.64708582
69	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.63597620
70	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.62402257
71	Primary immunodeficiency_Homo sapiens_hsa05340	0.62033678
72	Insulin secretion_Homo sapiens_hsa04911	0.60577375
73	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.59828135
74	Basal cell carcinoma_Homo sapiens_hsa05217	0.59409882
75	Purine metabolism_Homo sapiens_hsa00230	0.58718677
76	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.58452256
77	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.50964600
78	Cholinergic synapse_Homo sapiens_hsa04725	0.50515943
79	Metabolic pathways_Homo sapiens_hsa01100	0.49865859
80	Dopaminergic synapse_Homo sapiens_hsa04728	0.49773133
81	Peroxisome_Homo sapiens_hsa04146	0.45861396
82	Axon guidance_Homo sapiens_hsa04360	0.43618446
83	Gastric acid secretion_Homo sapiens_hsa04971	0.39648508
84	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.39456477
85	Rheumatoid arthritis_Homo sapiens_hsa05323	0.37433921
86	Collecting duct acid secretion_Homo sapiens_hsa04966	0.36887314
87	RNA degradation_Homo sapiens_hsa03018	0.36027968
88	Pyrimidine metabolism_Homo sapiens_hsa00240	0.33609312
89	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.33464791
90	ABC transporters_Homo sapiens_hsa02010	0.31682511
91	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.29373183
92	Renin secretion_Homo sapiens_hsa04924	0.28855820
93	Alcoholism_Homo sapiens_hsa05034	0.28743033
94	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.27951933
95	Tyrosine metabolism_Homo sapiens_hsa00350	0.26242202
96	Spliceosome_Homo sapiens_hsa03040	0.23926933
97	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.22661771
98	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.22463141
99	Pancreatic secretion_Homo sapiens_hsa04972	0.18447864
100	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.18334437

FRMD8P1

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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