ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cell proliferation in forebrain (GO:0021846)	5.76619910
2	behavioral response to nicotine (GO:0035095)	5.66790182
3	sulfation (GO:0051923)	5.49920943
4	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	5.27109961
5	positive regulation of cAMP-mediated signaling (GO:0043950)	5.25951096
6	otic vesicle formation (GO:0030916)	5.22345775
7	pharyngeal system development (GO:0060037)	5.20707086
8	cellular response to ATP (GO:0071318)	5.10963494
9	regulation of glomerulus development (GO:0090192)	4.47149820
10	regulation of cell proliferation involved in kidney development (GO:1901722)	4.47007382
11	forebrain morphogenesis (GO:0048853)	4.45126696
12	negative regulation of systemic arterial blood pressure (GO:0003085)	4.33183421
13	positive regulation of fatty acid oxidation (GO:0046321)	4.32096866
14	positive regulation of cardiac muscle cell differentiation (GO:2000727)	4.24429554
15	branching involved in labyrinthine layer morphogenesis (GO:0060670)	3.91113813
16	protein polyglutamylation (GO:0018095)	3.88002334
17	water-soluble vitamin biosynthetic process (GO:0042364)	3.77586497
18	lung morphogenesis (GO:0060425)	3.71630859
19	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.71370691
20	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.71370691
21	positive regulation of digestive system process (GO:0060456)	3.70619269
22	flavonoid metabolic process (GO:0009812)	3.61787509
23	tryptophan catabolic process (GO:0006569)	3.61033341
24	indole-containing compound catabolic process (GO:0042436)	3.61033341
25	indolalkylamine catabolic process (GO:0046218)	3.61033341
26	indolalkylamine metabolic process (GO:0006586)	3.60556209
27	kynurenine metabolic process (GO:0070189)	3.51321241
28	positive regulation of fatty acid beta-oxidation (GO:0032000)	3.50833247
29	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.49881877
30	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.49881877
31	NADH dehydrogenase complex assembly (GO:0010257)	3.49881877
32	regulation of collateral sprouting (GO:0048670)	3.49265401
33	regulation of sequestering of triglyceride (GO:0010889)	3.45666884
34	negative regulation of cardiac muscle tissue development (GO:0055026)	3.43343438
35	negative regulation of response to food (GO:0032096)	3.42065559
36	negative regulation of appetite (GO:0032099)	3.42065559
37	dentate gyrus development (GO:0021542)	3.40740315
38	tryptophan metabolic process (GO:0006568)	3.38613766
39	somite development (GO:0061053)	3.31472420
40	regulation of gene silencing by RNA (GO:0060966)	3.30142046
41	regulation of posttranscriptional gene silencing (GO:0060147)	3.30142046
42	regulation of gene silencing by miRNA (GO:0060964)	3.30142046
43	thyroid gland development (GO:0030878)	3.29717997
44	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	3.28806678
45	mesonephros development (GO:0001823)	3.24089271
46	gamma-aminobutyric acid transport (GO:0015812)	3.19938920
47	DNA deamination (GO:0045006)	3.15145915
48	negative regulation of gene silencing (GO:0060969)	3.14973268
49	negative regulation of multicellular organism growth (GO:0040015)	3.14788463
50	indole-containing compound metabolic process (GO:0042430)	3.14511694
51	cellular anion homeostasis (GO:0030002)	3.13655388
52	regulation of DNA endoreduplication (GO:0032875)	3.09880989
53	regulation of female receptivity (GO:0045924)	3.09683352
54	forebrain neuron development (GO:0021884)	3.00738401
55	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.96601637
56	positive regulation of inositol phosphate biosynthetic process (GO:0060732)	2.92814686
57	prostate gland growth (GO:0060736)	2.88166722
58	serotonin metabolic process (GO:0042428)	2.87809461
59	embryonic hindlimb morphogenesis (GO:0035116)	2.85769010
60	regulation of phospholipid biosynthetic process (GO:0071071)	2.82468514
61	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.79760331
62	signal transduction involved in regulation of gene expression (GO:0023019)	2.79245426
63	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.78615615
64	negative regulation of mast cell activation (GO:0033004)	2.78551719
65	primary amino compound metabolic process (GO:1901160)	2.77235602
66	lymphangiogenesis (GO:0001946)	2.76853016
67	outer ear morphogenesis (GO:0042473)	2.75449788
68	aorta morphogenesis (GO:0035909)	2.75424600
69	positive regulation of metanephros development (GO:0072216)	2.74455197
70	response to UV-C (GO:0010225)	2.72353924
71	interkinetic nuclear migration (GO:0022027)	2.68715721
72	negative regulation of astrocyte differentiation (GO:0048712)	2.68420065
73	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.65739486
74	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.65112926
75	pituitary gland development (GO:0021983)	2.64757807
76	cell migration involved in gastrulation (GO:0042074)	2.62922543
77	replicative senescence (GO:0090399)	2.62300785
78	regulation of action potential (GO:0098900)	2.61994250
79	protein complex biogenesis (GO:0070271)	2.61601013
80	positive regulation of glomerulus development (GO:0090193)	2.61067984
81	estrogen metabolic process (GO:0008210)	2.58519969
82	glandular epithelial cell differentiation (GO:0002067)	2.57677552
83	regulation of cAMP-mediated signaling (GO:0043949)	2.57575896
84	photoreceptor cell development (GO:0042461)	2.57106010
85	dopaminergic neuron differentiation (GO:0071542)	2.56982354
86	epithelial cell differentiation involved in kidney development (GO:0035850)	2.55449220
87	cartilage morphogenesis (GO:0060536)	2.53106775
88	positive regulation of catecholamine secretion (GO:0033605)	2.52064646
89	female mating behavior (GO:0060180)	2.51488160
90	organ induction (GO:0001759)	2.48078021
91	regulation of organ formation (GO:0003156)	2.47719266
92	detection of light stimulus involved in sensory perception (GO:0050962)	2.47616383
93	detection of light stimulus involved in visual perception (GO:0050908)	2.47616383
94	negative regulation of telomerase activity (GO:0051974)	2.47592339
95	metanephros development (GO:0001656)	2.46514120
96	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.44915942
97	negative regulation of blood pressure (GO:0045776)	2.44273154
98	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.43169692
99	parturition (GO:0007567)	2.42846369
100	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.40876231

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.14600841
2	STAT6_21828071_ChIP-Seq_BEAS2B_Human	4.54757684
3	EZH2_22144423_ChIP-Seq_EOC_Human	4.48606338
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.17464680
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.79191645
6	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.72921526
7	FUS_26573619_Chip-Seq_HEK293_Human	2.58735053
8	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.58717175
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.50113427
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.35657077
11	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.33045656
12	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.22755268
13	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	2.19235796
14	VDR_22108803_ChIP-Seq_LS180_Human	2.17145360
15	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.14343773
16	IGF1R_20145208_ChIP-Seq_DFB_Human	2.14210981
17	EWS_26573619_Chip-Seq_HEK293_Human	2.11445543
18	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.06043882
19	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.05988328
20	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.94866889
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.92459905
22	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.86938986
23	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.80084814
24	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.80084814
25	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.73648173
26	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.72992120
27	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.72568352
28	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.65269644
29	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.63007675
30	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.61498833
31	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.57749197
32	MYC_18940864_ChIP-ChIP_HL60_Human	1.57636502
33	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.57073107
34	ER_23166858_ChIP-Seq_MCF-7_Human	1.56684024
35	RNF2_27304074_Chip-Seq_NSC_Mouse	1.53505632
36	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.49993113
37	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.48190017
38	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.47846584
39	P300_19829295_ChIP-Seq_ESCs_Human	1.46573809
40	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.45539243
41	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43865965
42	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.41791351
43	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.40851096
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.40786675
45	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.40005500
46	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.38973586
47	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.38807308
48	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.38008644
49	IRF1_19129219_ChIP-ChIP_H3396_Human	1.37896246
50	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.36151481
51	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.34467814
52	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.32880502
53	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.32446614
54	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.32040012
55	BCAT_22108803_ChIP-Seq_LS180_Human	1.28811928
56	REST_21632747_ChIP-Seq_MESCs_Mouse	1.27662318
57	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.27435031
58	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.25882870
59	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.25664973
60	SMAD4_21799915_ChIP-Seq_A2780_Human	1.25313773
61	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.25036982
62	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.22787126
63	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.21158615
64	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.20751640
65	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.19483932
66	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.18711068
67	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.17897806
68	CBP_20019798_ChIP-Seq_JUKART_Human	1.17344502
69	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.17344502
70	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.16624459
71	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.15763895
72	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.12212684
73	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.12127929
74	TCF4_23295773_ChIP-Seq_U87_Human	1.11771251
75	AR_21572438_ChIP-Seq_LNCaP_Human	1.11137478
76	STAT3_23295773_ChIP-Seq_U87_Human	1.10773278
77	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.10311640
78	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.10119171
79	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.10036478
80	AR_25329375_ChIP-Seq_VCAP_Human	1.09838644
81	TAF15_26573619_Chip-Seq_HEK293_Human	1.09720869
82	NCOR_22424771_ChIP-Seq_293T_Human	1.08658099
83	KDM2B_26808549_Chip-Seq_REH_Human	1.06911697
84	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.06361619
85	AHR_22903824_ChIP-Seq_MCF-7_Human	1.04889984
86	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.99818683
87	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.98617479
88	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.98617479
89	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.97554792
90	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.94834291
91	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.93722755
92	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.92281647
93	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.91800295
94	RUNX2_22187159_ChIP-Seq_PCA_Human	0.91026535
95	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.90603079
96	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.89006378
97	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.87671715
98	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.86374793
99	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.85637948
100	TP53_22573176_ChIP-Seq_HFKS_Human	0.83793586

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	4.66747012
2	MP0002138_abnormal_hepatobiliary_system	3.90939014
3	MP0002160_abnormal_reproductive_system	3.39143442
4	MP0005646_abnormal_pituitary_gland	3.15765423
5	MP0000049_abnormal_middle_ear	2.95825252
6	MP0000678_abnormal_parathyroid_gland	2.87772007
7	MP0005670_abnormal_white_adipose	2.41001622
8	MP0001986_abnormal_taste_sensitivity	2.34756089
9	MP0005389_reproductive_system_phenotype	2.33861685
10	MP0000631_abnormal_neuroendocrine_gland	2.26450981
11	MP0002876_abnormal_thyroid_physiology	2.24879477
12	MP0004134_abnormal_chest_morphology	2.21979838
13	MP0009379_abnormal_foot_pigmentation	2.17310603
14	MP0001485_abnormal_pinna_reflex	2.16082465
15	MP0009250_abnormal_appendicular_skeleto	2.14346658
16	MP0004885_abnormal_endolymph	2.09857754
17	MP0004145_abnormal_muscle_electrophysio	2.09665933
18	MP0008872_abnormal_physiological_respon	2.02912876
19	MP0005084_abnormal_gallbladder_morpholo	2.01695746
20	MP0005083_abnormal_biliary_tract	2.01489008
21	MP0002837_dystrophic_cardiac_calcinosis	1.94495479
22	MP0009384_cardiac_valve_regurgitation	1.78912480
23	MP0003195_calcinosis	1.73627979
24	MP0003315_abnormal_perineum_morphology	1.69603865
25	MP0005551_abnormal_eye_electrophysiolog	1.68356012
26	MP0002163_abnormal_gland_morphology	1.64417938
27	MP0000013_abnormal_adipose_tissue	1.62424892
28	MP0002653_abnormal_ependyma_morphology	1.59603856
29	MP0004130_abnormal_muscle_cell	1.59205244
30	MP0002928_abnormal_bile_duct	1.58282885
31	MP0001968_abnormal_touch/_nociception	1.52946135
32	MP0002249_abnormal_larynx_morphology	1.46884812
33	MP0003942_abnormal_urinary_system	1.45222998
34	MP0002272_abnormal_nervous_system	1.41089189
35	MP0000613_abnormal_salivary_gland	1.38925815
36	MP0003937_abnormal_limbs/digits/tail_de	1.37687198
37	MP0001188_hyperpigmentation	1.37525106
38	MP0003283_abnormal_digestive_organ	1.35381519
39	MP0004133_heterotaxia	1.33618033
40	MP0002735_abnormal_chemical_nociception	1.31985506
41	MP0009053_abnormal_anal_canal	1.28640138
42	MP0004142_abnormal_muscle_tone	1.25327372
43	MP0003646_muscle_fatigue	1.23637181
44	MP0000681_abnormal_thyroid_gland	1.21685217
45	MP0009745_abnormal_behavioral_response	1.21537999
46	MP0002139_abnormal_hepatobiliary_system	1.21500974
47	MP0008877_abnormal_DNA_methylation	1.19319495
48	MP0003119_abnormal_digestive_system	1.15881528
49	MP0005367_renal/urinary_system_phenotyp	1.13448015
50	MP0000516_abnormal_urinary_system	1.13448015
51	MP0001440_abnormal_grooming_behavior	1.12150911
52	MP0003724_increased_susceptibility_to	1.09373174
53	MP0001963_abnormal_hearing_physiology	1.08348650
54	MP0003567_abnormal_fetal_cardiomyocyte	1.07902701
55	MP0003638_abnormal_response/metabolism_	1.06934628
56	MP0003938_abnormal_ear_development	1.06029607
57	MP0002733_abnormal_thermal_nociception	1.02960257
58	MP0002734_abnormal_mechanical_nocicepti	1.01407076
59	MP0001486_abnormal_startle_reflex	1.00586026
60	MP0003936_abnormal_reproductive_system	0.99560643
61	MP0002102_abnormal_ear_morphology	0.99163471
62	MP0000026_abnormal_inner_ear	0.98179291
63	MP0006072_abnormal_retinal_apoptosis	0.96473423
64	MP0000372_irregular_coat_pigmentation	0.96011619
65	MP0002282_abnormal_trachea_morphology	0.95155777
66	MP0003890_abnormal_embryonic-extraembry	0.94624004
67	MP0005360_urolithiasis	0.92777624
68	MP0002736_abnormal_nociception_after	0.92432017
69	MP0002064_seizures	0.91670676
70	MP0001919_abnormal_reproductive_system	0.88880177
71	MP0003252_abnormal_bile_duct	0.88838136
72	MP0005195_abnormal_posterior_eye	0.86998339
73	MP0005171_absent_coat_pigmentation	0.86390537
74	MP0001970_abnormal_pain_threshold	0.86215066
75	MP0002116_abnormal_craniofacial_bone	0.86180829
76	MP0005379_endocrine/exocrine_gland_phen	0.82395675
77	MP0003635_abnormal_synaptic_transmissio	0.80508651
78	MP0009765_abnormal_xenobiotic_induced	0.80489895
79	MP0002089_abnormal_postnatal_growth/wei	0.79803773
80	MP0000163_abnormal_cartilage_morphology	0.78815209
81	MP0002184_abnormal_innervation	0.76844864
82	MP0001664_abnormal_digestion	0.75328539
83	MP0002752_abnormal_somatic_nervous	0.75175163
84	MP0009046_muscle_twitch	0.73765763
85	MP0000534_abnormal_ureter_morphology	0.72560163
86	MP0002932_abnormal_joint_morphology	0.70858261
87	MP0002277_abnormal_respiratory_mucosa	0.69596192
88	MP0000537_abnormal_urethra_morphology	0.69340931
89	MP0000230_abnormal_systemic_arterial	0.68019992
90	MP0001293_anophthalmia	0.67281538
91	MP0002638_abnormal_pupillary_reflex	0.65746651
92	MP0001145_abnormal_male_reproductive	0.65619263
93	MP0002132_abnormal_respiratory_system	0.64416716
94	MP0002572_abnormal_emotion/affect_behav	0.64314753
95	MP0005253_abnormal_eye_physiology	0.64070890
96	MP0002938_white_spotting	0.63413420
97	MP0003787_abnormal_imprinting	0.61024263
98	MP0005174_abnormal_tail_pigmentation	0.60914976
99	MP0001905_abnormal_dopamine_level	0.60650517
100	MP0002751_abnormal_autonomic_nervous	0.60461115

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pendular nystagmus (HP:0012043)	5.23205272
2	Absent rod-and cone-mediated responses on ERG (HP:0007688)	4.84986615
3	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	4.60966053
4	Short 1st metacarpal (HP:0010034)	4.60966053
5	Genetic anticipation (HP:0003743)	4.36739122
6	Abnormality of the 1st metacarpal (HP:0010009)	4.05195054
7	Stenosis of the external auditory canal (HP:0000402)	3.98450349
8	Abolished electroretinogram (ERG) (HP:0000550)	3.82542160
9	Abnormal rod and cone electroretinograms (HP:0008323)	3.75766068
10	Short phalanx of the thumb (HP:0009660)	3.71084446
11	Abnormality of the renal collecting system (HP:0004742)	3.46124084
12	Pancreatic fibrosis (HP:0100732)	3.38872605
13	Decreased central vision (HP:0007663)	3.37400904
14	Severe visual impairment (HP:0001141)	3.36966533
15	Keratoconus (HP:0000563)	3.29334128
16	Increased corneal curvature (HP:0100692)	3.29334128
17	True hermaphroditism (HP:0010459)	3.29039268
18	Pancreatic cysts (HP:0001737)	3.24988021
19	Progressive cerebellar ataxia (HP:0002073)	3.21293995
20	Short hallux (HP:0010109)	3.11103436
21	Congenital stationary night blindness (HP:0007642)	3.09402051
22	Ectopic kidney (HP:0000086)	3.03196565
23	Abnormality of the nasal septum (HP:0000419)	2.96752539
24	Absent thumb (HP:0009777)	2.93903592
25	Asplenia (HP:0001746)	2.91474983
26	Chorioretinal atrophy (HP:0000533)	2.89706420
27	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	2.88839497
28	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	2.81614860
29	Morphological abnormality of the middle ear (HP:0008609)	2.81454236
30	Aplasia/Hypoplasia of the hallux (HP:0008362)	2.80645771
31	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.76750097
32	Congenital sensorineural hearing impairment (HP:0008527)	2.73817258
33	Abnormality of DNA repair (HP:0003254)	2.72454214
34	Abnormality of the phalanges of the 5th finger (HP:0004213)	2.67694494
35	Porencephaly (HP:0002132)	2.67127003
36	Abnormality of the proximal phalanges of the hand (HP:0009834)	2.63692066
37	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.59733181
38	Carpal bone hypoplasia (HP:0001498)	2.57696132
39	Absent/shortened dynein arms (HP:0200106)	2.54758134
40	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.54758134
41	Abnormality of cochlea (HP:0000375)	2.48914633
42	Attenuation of retinal blood vessels (HP:0007843)	2.46170435
43	Methylmalonic acidemia (HP:0002912)	2.42650787
44	Confusion (HP:0001289)	2.41264081
45	Nephronophthisis (HP:0000090)	2.36666900
46	Gonadotropin excess (HP:0000837)	2.36601761
47	Fused cervical vertebrae (HP:0002949)	2.33398964
48	Agitation (HP:0000713)	2.31354864
49	3-Methylglutaconic aciduria (HP:0003535)	2.29979559
50	Synostosis of carpal bones (HP:0005048)	2.28218567
51	Abnormality of the middle phalanges of the toes (HP:0010183)	2.28084018
52	Septo-optic dysplasia (HP:0100842)	2.22539645
53	Congenital, generalized hypertrichosis (HP:0004540)	2.21552253
54	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.17683586
55	Cystic liver disease (HP:0006706)	2.12785773
56	Small hand (HP:0200055)	2.12136615
57	Abnormality of midbrain morphology (HP:0002418)	2.06379534
58	Molar tooth sign on MRI (HP:0002419)	2.06379534
59	Hypoplasia of the uterus (HP:0000013)	2.05978551
60	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	2.00625171
61	Short 4th metacarpal (HP:0010044)	2.00625171
62	Short femoral neck (HP:0100864)	1.98121526
63	Duplicated collecting system (HP:0000081)	1.97354371
64	Furrowed tongue (HP:0000221)	1.97255934
65	Bony spicule pigmentary retinopathy (HP:0007737)	1.96845584
66	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.92548852
67	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.91673226
68	Abnormality of the renal medulla (HP:0100957)	1.91538009
69	Decreased subcutaneous fat (HP:0001002)	1.88506062
70	Anomalous pulmonary venous return (HP:0010772)	1.85525232
71	Panhypogammaglobulinemia (HP:0003139)	1.84759448
72	Abnormality of the costochondral junction (HP:0000919)	1.84203163
73	Morphological abnormality of the inner ear (HP:0011390)	1.82321662
74	Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)	1.82010993
75	Goiter (HP:0000853)	1.80985270
76	Vertebral fusion (HP:0002948)	1.79276758
77	Methylmalonic aciduria (HP:0012120)	1.78762096
78	Abnormal number of erythroid precursors (HP:0012131)	1.78092175
79	Abnormality of the renal cortex (HP:0011035)	1.77801015
80	Abnormality of homocysteine metabolism (HP:0010919)	1.77498103
81	Homocystinuria (HP:0002156)	1.77498103
82	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.76196537
83	Hypoplastic pelvis (HP:0008839)	1.75632631
84	Oligomenorrhea (HP:0000876)	1.75108455
85	Reticulocytopenia (HP:0001896)	1.74381983
86	Abnormality of cells of the erythroid lineage (HP:0012130)	1.74295034
87	Horseshoe kidney (HP:0000085)	1.73628977
88	Thyroiditis (HP:0100646)	1.73096992
89	Short thumb (HP:0009778)	1.71337673
90	Hemiplegia (HP:0002301)	1.71314452
91	Abnormality of the pulmonary veins (HP:0011718)	1.70044138
92	Male pseudohermaphroditism (HP:0000037)	1.69009558
93	Abnormality of alanine metabolism (HP:0010916)	1.68753722
94	Hyperalaninemia (HP:0003348)	1.68753722
95	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.68753722
96	Abnormality of B cell number (HP:0010975)	1.68289014
97	Impaired smooth pursuit (HP:0007772)	1.66548442
98	Abnormal respiratory motile cilium morphology (HP:0005938)	1.66434129
99	Abnormal respiratory epithelium morphology (HP:0012253)	1.66434129
100	Abnormality of the 2nd finger (HP:0004100)	1.65658356

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	GRK1	4.56162698
2	ADRBK2	4.01107359
3	FRK	3.70604757
4	BCKDK	3.09415908
5	TAF1	2.40685315
6	ZAK	2.29124429
7	PRKD2	2.27027572
8	PINK1	2.26281985
9	TAOK3	1.96169513
10	TIE1	1.92738523
11	BMPR1B	1.86344656
12	NUAK1	1.84193083
13	TLK1	1.69823577
14	EIF2AK3	1.67738900
15	ACVR1B	1.62132659
16	MAP4K2	1.48780572
17	INSRR	1.44006406
18	AKT3	1.42620254
19	FLT3	1.41714567
20	VRK1	1.40729054
21	SGK2	1.36458476
22	WNK3	1.29634544
23	CDC7	1.25291468
24	KIT	1.24800792
25	MAP3K4	1.16518683
26	CASK	1.16160644
27	CDK19	1.15147549
28	MAPK13	1.14693390
29	IKBKB	1.08827144
30	DYRK2	1.06711287
31	OXSR1	1.05200389
32	PRKCH	1.05149516
33	WNK4	1.03522460
34	SGK494	1.03410314
35	SGK223	1.03410314
36	PRKCE	1.00358673
37	CSNK1G1	0.99214388
38	TXK	0.98729298
39	STK39	0.96447180
40	DAPK2	0.96308267
41	PRKG2	0.94839523
42	CDK9	0.94738470
43	NLK	0.92612586
44	RPS6KA6	0.91412995
45	TEC	0.90769735
46	PRKCG	0.90661458
47	RPS6KB2	0.89147987
48	CDK3	0.87740349
49	STK16	0.86662673
50	VRK2	0.86403752
51	RPS6KB1	0.84440114
52	SYK	0.80601905
53	AURKA	0.75507788
54	HIPK2	0.72694199
55	MAP2K6	0.72678779
56	PLK2	0.72451992
57	ADRBK1	0.70780870
58	RPS6KL1	0.70767093
59	RPS6KC1	0.70767093
60	TNIK	0.69481733
61	MAP2K7	0.68431915
62	RPS6KA5	0.68381442
63	CSNK1G3	0.67285150
64	FGFR2	0.66802786
65	PRKCQ	0.66612628
66	MAP2K4	0.66133871
67	MATK	0.64860027
68	MAPK7	0.64581415
69	SGK3	0.63152781
70	GRK5	0.61321838
71	GRK7	0.61053508
72	STK11	0.60745095
73	PTK2B	0.59961772
74	CSNK1A1	0.58102577
75	SGK1	0.57628946
76	BLK	0.56968007
77	MAPKAPK5	0.56822627
78	CSNK1G2	0.56215956
79	PRKACA	0.55991299
80	ABL2	0.55622106
81	MAP2K1	0.55300008
82	NTRK2	0.52218603
83	PIK3CA	0.50514535
84	DAPK3	0.47185122
85	GRK6	0.46794760
86	IGF1R	0.45781350
87	CSNK1A1L	0.44849814
88	PIM1	0.44266676
89	PRKCI	0.43708879
90	MUSK	0.43075499
91	CSNK1D	0.42189582
92	MAPKAPK3	0.39612600
93	PRKCA	0.39416914
94	CAMK2A	0.39074909
95	RPS6KA4	0.38077620
96	OBSCN	0.38067956
97	EIF2AK2	0.37514946
98	DYRK1A	0.35366742
99	ATR	0.34982987
100	PRKCZ	0.34643452

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.78675132
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.67988348
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.49853068
4	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.33335131
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.31774976
6	Phototransduction_Homo sapiens_hsa04744	2.26743042
7	Selenocompound metabolism_Homo sapiens_hsa00450	2.21147650
8	Nicotine addiction_Homo sapiens_hsa05033	2.16443871
9	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.13866710
10	Sulfur metabolism_Homo sapiens_hsa00920	2.04458688
11	Sulfur relay system_Homo sapiens_hsa04122	2.03165237
12	Ribosome_Homo sapiens_hsa03010	2.00661753
13	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.91062074
14	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.88627367
15	Chemical carcinogenesis_Homo sapiens_hsa05204	1.86952106
16	Homologous recombination_Homo sapiens_hsa03440	1.78941968
17	Ether lipid metabolism_Homo sapiens_hsa00565	1.68330135
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.68276808
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.62574669
20	Retinol metabolism_Homo sapiens_hsa00830	1.49571013
21	Melanoma_Homo sapiens_hsa05218	1.45347312
22	Morphine addiction_Homo sapiens_hsa05032	1.44926567
23	Taste transduction_Homo sapiens_hsa04742	1.42600634
24	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.41934321
25	Olfactory transduction_Homo sapiens_hsa04740	1.40988376
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.39462005
27	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.34116213
28	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.32100311
29	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.28750923
30	Insulin secretion_Homo sapiens_hsa04911	1.28482723
31	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.27135200
32	Fanconi anemia pathway_Homo sapiens_hsa03460	1.26138306
33	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.25394312
34	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.20460981
35	Basal cell carcinoma_Homo sapiens_hsa05217	1.19036899
36	Primary immunodeficiency_Homo sapiens_hsa05340	1.16270810
37	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.15919783
38	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.15369756
39	Renin-angiotensin system_Homo sapiens_hsa04614	1.14895157
40	Oxidative phosphorylation_Homo sapiens_hsa00190	1.12676252
41	Renin secretion_Homo sapiens_hsa04924	1.09859549
42	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.09831256
43	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.07414947
44	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.05753901
45	RNA polymerase_Homo sapiens_hsa03020	1.04067822
46	Serotonergic synapse_Homo sapiens_hsa04726	1.03202416
47	Glutamatergic synapse_Homo sapiens_hsa04724	1.02725288
48	Alcoholism_Homo sapiens_hsa05034	1.00577622
49	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.96406860
50	RNA degradation_Homo sapiens_hsa03018	0.96182651
51	Circadian entrainment_Homo sapiens_hsa04713	0.95479494
52	One carbon pool by folate_Homo sapiens_hsa00670	0.94724947
53	Salivary secretion_Homo sapiens_hsa04970	0.94617950
54	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.87768070
55	Caffeine metabolism_Homo sapiens_hsa00232	0.86722685
56	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.84909930
57	Calcium signaling pathway_Homo sapiens_hsa04020	0.83828822
58	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.83335759
59	Asthma_Homo sapiens_hsa05310	0.82555934
60	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.82001247
61	Fat digestion and absorption_Homo sapiens_hsa04975	0.80663426
62	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.77388059
63	Glycerolipid metabolism_Homo sapiens_hsa00561	0.76464382
64	GABAergic synapse_Homo sapiens_hsa04727	0.73516948
65	Parkinsons disease_Homo sapiens_hsa05012	0.71113624
66	Alzheimers disease_Homo sapiens_hsa05010	0.70482140
67	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.69043640
68	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.67745614
69	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.67046226
70	Long-term depression_Homo sapiens_hsa04730	0.66667807
71	Cardiac muscle contraction_Homo sapiens_hsa04260	0.66493575
72	Gap junction_Homo sapiens_hsa04540	0.65344243
73	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.64231169
74	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.62712867
75	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.61217453
76	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.61127801
77	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.60032730
78	Cholinergic synapse_Homo sapiens_hsa04725	0.59289925
79	Type II diabetes mellitus_Homo sapiens_hsa04930	0.57970634
80	Butanoate metabolism_Homo sapiens_hsa00650	0.56747296
81	Peroxisome_Homo sapiens_hsa04146	0.56654017
82	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.56611918
83	cAMP signaling pathway_Homo sapiens_hsa04024	0.55812101
84	Basal transcription factors_Homo sapiens_hsa03022	0.54666332
85	Ras signaling pathway_Homo sapiens_hsa04014	0.51812855
86	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.50527222
87	Cocaine addiction_Homo sapiens_hsa05030	0.48991234
88	Type I diabetes mellitus_Homo sapiens_hsa04940	0.43739003
89	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.43501169
90	Huntingtons disease_Homo sapiens_hsa05016	0.41934070
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.41913413
92	beta-Alanine metabolism_Homo sapiens_hsa00410	0.40439136
93	MAPK signaling pathway_Homo sapiens_hsa04010	0.40312074
94	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.39551343
95	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.39525012
96	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.38168858
97	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.37666187
98	Purine metabolism_Homo sapiens_hsa00230	0.32915614
99	Nucleotide excision repair_Homo sapiens_hsa03420	0.31292654
100	Regulation of autophagy_Homo sapiens_hsa04140	0.31246500

RPS3AP46

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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