ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	8.55738856
2	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	6.42753252
3	inositol phosphate catabolic process (GO:0071545)	6.12560180
4	anterograde synaptic vesicle transport (GO:0048490)	5.06349929
5	phosphorylated carbohydrate dephosphorylation (GO:0046838)	4.87779660
6	inositol phosphate dephosphorylation (GO:0046855)	4.87779660
7	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.56656853
8	somatic diversification of immune receptors via somatic mutation (GO:0002566)	4.24202887
9	somatic hypermutation of immunoglobulin genes (GO:0016446)	4.24202887
10	translesion synthesis (GO:0019985)	4.19537008
11	aggressive behavior (GO:0002118)	4.09351373
12	respiratory chain complex IV assembly (GO:0008535)	4.01625101
13	proteasome assembly (GO:0043248)	4.01397785
14	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.95218248
15	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.94132334
16	protein complex biogenesis (GO:0070271)	3.92289491
17	mitochondrial respiratory chain complex assembly (GO:0033108)	3.91444410
18	polyol catabolic process (GO:0046174)	3.88365050
19	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.85796317
20	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.85796317
21	NADH dehydrogenase complex assembly (GO:0010257)	3.85796317
22	DNA double-strand break processing (GO:0000729)	3.79424529
23	endothelium development (GO:0003158)	3.76172532
24	behavioral response to ethanol (GO:0048149)	3.74466199
25	platelet dense granule organization (GO:0060155)	3.73634026
26	replication fork processing (GO:0031297)	3.62355384
27	lysine catabolic process (GO:0006554)	3.51540127
28	lysine metabolic process (GO:0006553)	3.51540127
29	cytochrome complex assembly (GO:0017004)	3.51308924
30	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.50711136
31	aspartate family amino acid catabolic process (GO:0009068)	3.50309207
32	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	3.46238961
33	regulation of mitochondrial translation (GO:0070129)	3.38344030
34	pseudouridine synthesis (GO:0001522)	3.33454816
35	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.28513316
36	anterograde axon cargo transport (GO:0008089)	3.23354710
37	lactate metabolic process (GO:0006089)	3.19736144
38	pyrimidine nucleoside monophosphate metabolic process (GO:0009129)	3.18683705
39	artery smooth muscle contraction (GO:0014824)	3.14160923
40	positive regulation of meiosis (GO:0045836)	3.12763288
41	pyrimidine nucleotide catabolic process (GO:0006244)	3.09802821
42	cardiolipin metabolic process (GO:0032048)	3.07674637
43	mitochondrial DNA replication (GO:0006264)	3.07558343
44	regulation of acyl-CoA biosynthetic process (GO:0050812)	3.07371180
45	tryptophan metabolic process (GO:0006568)	3.04771359
46	GTP biosynthetic process (GO:0006183)	3.04696679
47	protein localization to cilium (GO:0061512)	3.02554810
48	glycerophospholipid catabolic process (GO:0046475)	3.01781288
49	protein-chromophore linkage (GO:0018298)	2.97728319
50	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.96485116
51	cellular ketone body metabolic process (GO:0046950)	2.92790618
52	prostate gland growth (GO:0060736)	2.91555417
53	positive regulation of meiotic cell cycle (GO:0051446)	2.86684373
54	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.85906692
55	postreplication repair (GO:0006301)	2.85332178
56	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.85091349
57	L-phenylalanine catabolic process (GO:0006559)	2.82810796
58	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.82810796
59	photoreceptor cell maintenance (GO:0045494)	2.80971903
60	intraciliary transport (GO:0042073)	2.80595898
61	regulation of protein glycosylation (GO:0060049)	2.79899994
62	phospholipid catabolic process (GO:0009395)	2.78860908
63	tyrosine metabolic process (GO:0006570)	2.75759979
64	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.75305236
65	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.75305236
66	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.75305236
67	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.74956052
68	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.72916371
69	inner mitochondrial membrane organization (GO:0007007)	2.71891386
70	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.71355724
71	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.71355724
72	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.67991035
73	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.67991035
74	L-phenylalanine metabolic process (GO:0006558)	2.66804398
75	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.66804398
76	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.65134433
77	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.65102784
78	arginine catabolic process (GO:0006527)	2.64576560
79	embryonic heart tube development (GO:0035050)	2.64155807
80	pyrimidine nucleoside triphosphate metabolic process (GO:0009147)	2.62649491
81	fatty acid transmembrane transport (GO:1902001)	2.62603199
82	ketone body metabolic process (GO:1902224)	2.62235451
83	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.62230085
84	positive regulation of glycoprotein biosynthetic process (GO:0010560)	2.61990538
85	chaperone-mediated protein transport (GO:0072321)	2.61806686
86	regulation of sulfur metabolic process (GO:0042762)	2.61012483
87	maturation of 5.8S rRNA (GO:0000460)	2.60638219
88	aspartate family amino acid metabolic process (GO:0009066)	2.60299863
89	protein prenylation (GO:0018342)	2.60153498
90	prenylation (GO:0097354)	2.60153498
91	regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	2.58900049
92	vascular smooth muscle contraction (GO:0014829)	2.57395682
93	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.56814440
94	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.55576193
95	DNA catabolic process, exonucleolytic (GO:0000738)	2.55524896
96	regulation of cilium movement (GO:0003352)	2.54939510
97	UTP biosynthetic process (GO:0006228)	2.54699531
98	pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)	2.54567822
99	doxorubicin metabolic process (GO:0044598)	2.54363704
100	daunorubicin metabolic process (GO:0044597)	2.54363704

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	6.36493894
2	E2F7_22180533_ChIP-Seq_HELA_Human	6.31150342
3	ZNF274_21170338_ChIP-Seq_K562_Hela	4.01120683
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.68244182
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.24178773
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.05319224
7	VDR_22108803_ChIP-Seq_LS180_Human	3.02803443
8	GATA1_22025678_ChIP-Seq_K562_Human	3.01437623
9	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.84740022
10	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.46137831
11	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.44887170
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.41870364
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.40808039
14	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	2.33584367
15	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.26616610
16	FUS_26573619_Chip-Seq_HEK293_Human	2.19756914
17	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.02633787
18	GBX2_23144817_ChIP-Seq_PC3_Human	1.97382540
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.89074762
20	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.88782790
21	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.87631743
22	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.83400639
23	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.79113412
24	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.77856590
25	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.77848975
26	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.77353042
27	VDR_23849224_ChIP-Seq_CD4+_Human	1.75529946
28	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.72704820
29	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.72582430
30	IRF1_19129219_ChIP-ChIP_H3396_Human	1.72453609
31	TP53_22573176_ChIP-Seq_HFKS_Human	1.67168532
32	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.60797316
33	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.53302524
34	FOXP3_21729870_ChIP-Seq_TREG_Human	1.49387099
35	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.48950476
36	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.48362739
37	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.45997480
38	EWS_26573619_Chip-Seq_HEK293_Human	1.44641680
39	TAF15_26573619_Chip-Seq_HEK293_Human	1.37473779
40	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.31234778
41	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27823741
42	P300_19829295_ChIP-Seq_ESCs_Human	1.24516200
43	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.22526973
44	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.18692688
45	HTT_18923047_ChIP-ChIP_STHdh_Human	1.17379772
46	AR_25329375_ChIP-Seq_VCAP_Human	1.15973802
47	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.14325368
48	ELK1_19687146_ChIP-ChIP_HELA_Human	1.13591565
49	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.11879505
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.10473766
51	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.09902329
52	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.08758425
53	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.07818271
54	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.06214202
55	TCF4_23295773_ChIP-Seq_U87_Human	1.04877598
56	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.04638871
57	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.02782494
58	ER_23166858_ChIP-Seq_MCF-7_Human	1.01766642
59	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01084487
60	CBP_20019798_ChIP-Seq_JUKART_Human	1.01084487
61	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.00946121
62	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.00589571
63	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.00070056
64	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.99532085
65	SOX2_19829295_ChIP-Seq_ESCs_Human	0.99257094
66	NANOG_19829295_ChIP-Seq_ESCs_Human	0.99257094
67	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.96066073
68	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.95987614
69	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.95987614
70	SOX2_16153702_ChIP-ChIP_HESCs_Human	0.95913091
71	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.95828219
72	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.95552546
73	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.94841843
74	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.93869460
75	MYC_18940864_ChIP-ChIP_HL60_Human	0.92891435
76	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.92541234
77	P53_22387025_ChIP-Seq_ESCs_Mouse	0.90287805
78	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.90268579
79	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.87302858
80	AR_20517297_ChIP-Seq_VCAP_Human	0.86913498
81	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.86826735
82	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.85490579
83	GABP_19822575_ChIP-Seq_HepG2_Human	0.84900860
84	TCF4_22108803_ChIP-Seq_LS180_Human	0.84755446
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.83308073
86	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.83300392
87	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.83110376
88	NCOR_22424771_ChIP-Seq_293T_Human	0.81632535
89	NMYC_18555785_Chip-Seq_ESCs_Mouse	0.80844614
90	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.79972460
91	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.78949356
92	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.77167241
93	P300_18555785_Chip-Seq_ESCs_Mouse	0.76962431
94	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.76886162
95	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.76773291
96	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.76557355
97	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.76438788
98	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.75829781
99	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.74602209
100	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.73403548

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	6.09298880
2	MP0000015_abnormal_ear_pigmentation	4.41679954
3	MP0000566_synostosis	4.11131536
4	MP0005171_absent_coat_pigmentation	4.06443169
5	MP0005174_abnormal_tail_pigmentation	3.72828636
6	MP0000372_irregular_coat_pigmentation	3.33219264
7	MP0003136_yellow_coat_color	2.98261985
8	MP0002837_dystrophic_cardiac_calcinosis	2.86948867
9	MP0006292_abnormal_olfactory_placode	2.48755767
10	MP0005646_abnormal_pituitary_gland	2.37345174
11	MP0003693_abnormal_embryo_hatching	2.34071069
12	MP0005408_hypopigmentation	2.25042846
13	MP0002095_abnormal_skin_pigmentation	2.19747966
14	MP0000383_abnormal_hair_follicle	2.19378149
15	MP0002638_abnormal_pupillary_reflex	2.15515959
16	MP0002938_white_spotting	1.97941641
17	MP0006072_abnormal_retinal_apoptosis	1.97536402
18	MP0010094_abnormal_chromosome_stability	1.91332864
19	MP0002876_abnormal_thyroid_physiology	1.84209670
20	MP0005360_urolithiasis	1.82545626
21	MP0005645_abnormal_hypothalamus_physiol	1.81318982
22	MP0003172_abnormal_lysosome_physiology	1.71609393
23	MP0008058_abnormal_DNA_repair	1.67086426
24	MP0009278_abnormal_bone_marrow	1.66768397
25	MP0005248_abnormal_Harderian_gland	1.66337660
26	MP0003195_calcinosis	1.63246952
27	MP0003567_abnormal_fetal_cardiomyocyte	1.61207436
28	MP0008775_abnormal_heart_ventricle	1.54494486
29	MP0003186_abnormal_redox_activity	1.51981908
30	MP0009780_abnormal_chondrocyte_physiolo	1.49831170
31	MP0003718_maternal_effect	1.49058661
32	MP0003011_delayed_dark_adaptation	1.47174566
33	MP0010678_abnormal_skin_adnexa	1.44752799
34	MP0005084_abnormal_gallbladder_morpholo	1.44009802
35	MP0005075_abnormal_melanosome_morpholog	1.43262050
36	MP0005670_abnormal_white_adipose	1.40545799
37	MP0001984_abnormal_olfaction	1.33438706
38	MP0001485_abnormal_pinna_reflex	1.31814680
39	MP0002139_abnormal_hepatobiliary_system	1.29071047
40	MP0005253_abnormal_eye_physiology	1.27178239
41	MP0000013_abnormal_adipose_tissue	1.25668956
42	MP0005551_abnormal_eye_electrophysiolog	1.21973581
43	MP0005220_abnormal_exocrine_pancreas	1.16027138
44	MP0009697_abnormal_copulation	1.13783383
45	MP0009046_muscle_twitch	1.09430740
46	MP0001764_abnormal_homeostasis	1.08764859
47	MP0002653_abnormal_ependyma_morphology	1.08010232
48	MP0005397_hematopoietic_system_phenotyp	1.05128721
49	MP0001545_abnormal_hematopoietic_system	1.05128721
50	MP0005379_endocrine/exocrine_gland_phen	1.04985973
51	MP0001944_abnormal_pancreas_morphology	1.04785267
52	MP0000631_abnormal_neuroendocrine_gland	1.02368759
53	MP0008875_abnormal_xenobiotic_pharmacok	1.00190773
54	MP0003806_abnormal_nucleotide_metabolis	0.99001721
55	MP0005636_abnormal_mineral_homeostasis	0.98982204
56	MP0002909_abnormal_adrenal_gland	0.98050369
57	MP0008057_abnormal_DNA_replication	0.97705656
58	MP0003121_genomic_imprinting	0.91999188
59	MP0004381_abnormal_hair_follicle	0.91283428
60	MP0005332_abnormal_amino_acid	0.89174932
61	MP0000516_abnormal_urinary_system	0.87993660
62	MP0005367_renal/urinary_system_phenotyp	0.87993660
63	MP0006036_abnormal_mitochondrial_physio	0.87914466
64	MP0001293_anophthalmia	0.87216881
65	MP0002254_reproductive_system_inflammat	0.86971343
66	MP0002277_abnormal_respiratory_mucosa	0.86545182
67	MP0001501_abnormal_sleep_pattern	0.86445063
68	MP0001905_abnormal_dopamine_level	0.85942566
69	MP0003123_paternal_imprinting	0.85703633
70	MP0002102_abnormal_ear_morphology	0.84733671
71	MP0002693_abnormal_pancreas_physiology	0.82330234
72	MP0002160_abnormal_reproductive_system	0.81962807
73	MP0008872_abnormal_physiological_respon	0.78473342
74	MP0001661_extended_life_span	0.77688813
75	MP0004133_heterotaxia	0.76470094
76	MP0001756_abnormal_urination	0.73914465
77	MP0010329_abnormal_lipoprotein_level	0.73901086
78	MP0001929_abnormal_gametogenesis	0.73203280
79	MP0002078_abnormal_glucose_homeostasis	0.70637237
80	MP0003315_abnormal_perineum_morphology	0.70417831
81	MP0001324_abnormal_eye_pigmentation	0.70396148
82	MP0002557_abnormal_social/conspecific_i	0.69967963
83	MP0002177_abnormal_outer_ear	0.69566626
84	MP0008789_abnormal_olfactory_epithelium	0.68191807
85	MP0002733_abnormal_thermal_nociception	0.67062925
86	MP0000371_diluted_coat_color	0.66198813
87	MP0002210_abnormal_sex_determination	0.65890649
88	MP0002127_abnormal_cardiovascular_syste	0.65812193
89	MP0004215_abnormal_myocardial_fiber	0.63190907
90	MP0002064_seizures	0.62108507
91	MP0003075_altered_response_to	0.62027107
92	MP0005395_other_phenotype	0.62025288
93	MP0009745_abnormal_behavioral_response	0.59412698
94	MP0002272_abnormal_nervous_system	0.56117719
95	MP0005195_abnormal_posterior_eye	0.55132291
96	MP0003937_abnormal_limbs/digits/tail_de	0.54564153
97	MP0001145_abnormal_male_reproductive	0.53346307
98	MP0008932_abnormal_embryonic_tissue	0.53345410
99	MP0000653_abnormal_sex_gland	0.53309538
100	MP0005165_increased_susceptibility_to	0.52894031

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Intestinal atresia (HP:0011100)	5.56881589
2	Lipid accumulation in hepatocytes (HP:0006561)	4.02520254
3	Aplasia/Hypoplasia of the fovea (HP:0008060)	3.90161418
4	Hypoplasia of the fovea (HP:0007750)	3.90161418
5	Increased hepatocellular lipid droplets (HP:0006565)	3.62520603
6	Albinism (HP:0001022)	3.59100087
7	Pendular nystagmus (HP:0012043)	3.54347271
8	Tubulointerstitial nephritis (HP:0001970)	3.45779984
9	Acute necrotizing encephalopathy (HP:0006965)	3.40479550
10	Renal Fanconi syndrome (HP:0001994)	3.37235490
11	Abnormality of the fovea (HP:0000493)	3.35044831
12	Congenital sensorineural hearing impairment (HP:0008527)	3.07497144
13	Abnormality of the heme biosynthetic pathway (HP:0010472)	3.01283921
14	Reduced antithrombin III activity (HP:0001976)	3.00348062
15	Mitochondrial inheritance (HP:0001427)	2.98889538
16	Progressive macrocephaly (HP:0004481)	2.93727407
17	Aplasia/Hypoplasia of the macula (HP:0008059)	2.85259796
18	Type I transferrin isoform profile (HP:0003642)	2.75232940
19	Abnormal mitochondria in muscle tissue (HP:0008316)	2.74624450
20	Acute encephalopathy (HP:0006846)	2.74151256
21	Fair hair (HP:0002286)	2.72699939
22	Ependymoma (HP:0002888)	2.68687636
23	Increased CSF lactate (HP:0002490)	2.63921014
24	Cerebral hypomyelination (HP:0006808)	2.62744694
25	Aplasia/Hypoplasia affecting the retina (HP:0008061)	2.59486029
26	Pancreatic islet-cell hyperplasia (HP:0004510)	2.59325937
27	Renal cortical cysts (HP:0000803)	2.59023779
28	Abnormality of the renal cortex (HP:0011035)	2.58048231
29	Rectal fistula (HP:0100590)	2.54523898
30	Rectovaginal fistula (HP:0000143)	2.54523898
31	Generalized hypopigmentation of hair (HP:0011358)	2.48152538
32	Gastrointestinal atresia (HP:0002589)	2.41280722
33	Large for gestational age (HP:0001520)	2.39122620
34	Facial diplegia (HP:0001349)	2.36928840
35	Widely spaced teeth (HP:0000687)	2.36794656
36	Abnormal protein glycosylation (HP:0012346)	2.35392067
37	Abnormal glycosylation (HP:0012345)	2.35392067
38	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.35392067
39	Abnormal protein N-linked glycosylation (HP:0012347)	2.35392067
40	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.35167986
41	Astrocytoma (HP:0009592)	2.34279582
42	Abnormality of the astrocytes (HP:0100707)	2.34279582
43	Progressive inability to walk (HP:0002505)	2.29974003
44	Patchy hypopigmentation of hair (HP:0011365)	2.25256243
45	Respiratory difficulties (HP:0002880)	2.23134462
46	Hyperthyroidism (HP:0000836)	2.23111026
47	Severe visual impairment (HP:0001141)	2.22677527
48	Epidermoid cyst (HP:0200040)	2.22469626
49	Abnormality of lateral ventricle (HP:0030047)	2.17895047
50	Beaking of vertebral bodies (HP:0004568)	2.17382574
51	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.15085676
52	Dicarboxylic aciduria (HP:0003215)	2.15085676
53	Generalized hypopigmentation (HP:0007513)	2.13714907
54	Hypoproteinemia (HP:0003075)	2.12985483
55	Hepatocellular necrosis (HP:0001404)	2.12028361
56	Respiratory failure (HP:0002878)	2.11857127
57	Abnormality of the parathyroid morphology (HP:0011766)	2.11028948
58	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.09184634
59	Abnormality of the renal medulla (HP:0100957)	2.05890292
60	Increased muscle lipid content (HP:0009058)	2.05875208
61	Pancreatic fibrosis (HP:0100732)	2.05547970
62	Hyperglycemia (HP:0003074)	2.05086740
63	Blue irides (HP:0000635)	2.05057664
64	Enlarged kidneys (HP:0000105)	2.04196943
65	Cerebral edema (HP:0002181)	2.03841647
66	Vaginal fistula (HP:0004320)	2.03360899
67	Colon cancer (HP:0003003)	2.00117323
68	Intestinal fistula (HP:0100819)	1.99348832
69	Increased intramyocellular lipid droplets (HP:0012240)	1.98183474
70	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.97568803
71	White forelock (HP:0002211)	1.96460122
72	Abnormality of midbrain morphology (HP:0002418)	1.94242176
73	Molar tooth sign on MRI (HP:0002419)	1.94242176
74	Chronic hepatic failure (HP:0100626)	1.94044144
75	Urinary glycosaminoglycan excretion (HP:0003541)	1.93185212
76	Mucopolysacchariduria (HP:0008155)	1.93185212
77	Nephronophthisis (HP:0000090)	1.91769201
78	Parakeratosis (HP:0001036)	1.91482537
79	Broad-based gait (HP:0002136)	1.90874537
80	Glycosuria (HP:0003076)	1.90728994
81	Abnormality of urine glucose concentration (HP:0011016)	1.90728994
82	Sensory axonal neuropathy (HP:0003390)	1.88647425
83	Hepatic necrosis (HP:0002605)	1.88607903
84	Popliteal pterygium (HP:0009756)	1.87264307
85	Opisthotonus (HP:0002179)	1.86778988
86	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.85758720
87	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.85758720
88	Congenital stationary night blindness (HP:0007642)	1.85646882
89	Ketoacidosis (HP:0001993)	1.84515717
90	J-shaped sella turcica (HP:0002680)	1.83941772
91	Exertional dyspnea (HP:0002875)	1.82379412
92	Thyroid-stimulating hormone excess (HP:0002925)	1.82023667
93	Lactic acidosis (HP:0003128)	1.81606804
94	Abolished electroretinogram (ERG) (HP:0000550)	1.81457936
95	Cutaneous melanoma (HP:0012056)	1.81273942
96	Abnormal rod and cone electroretinograms (HP:0008323)	1.81132704
97	Glioma (HP:0009733)	1.80832237
98	Abnormality of methionine metabolism (HP:0010901)	1.77835589
99	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.77717249
100	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.77717249

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	4.08148061
2	FER	3.72694759
3	BMPR1B	3.31980824
4	ZAK	3.21919217
5	BCKDK	3.12324382
6	PAK3	3.11531115
7	VRK1	2.63347704
8	MAPKAPK5	2.62882402
9	FRK	2.40796649
10	MST4	2.15797269
11	MAP2K1	2.08495441
12	PINK1	1.99594967
13	ADRBK2	1.99218963
14	PBK	1.97205555
15	WNK3	1.91698804
16	CDC7	1.90781435
17	VRK2	1.90581774
18	MKNK1	1.90207322
19	PRKCI	1.84531558
20	MAP4K2	1.75965921
21	AKT3	1.73962069
22	MARK3	1.71868956
23	FGFR1	1.68112065
24	PDK2	1.62183426
25	CCNB1	1.57737994
26	CSNK1G3	1.53165127
27	NUAK1	1.50063127
28	CSNK1G2	1.48540236
29	CSNK1G1	1.40740563
30	TAOK3	1.40048297
31	RPS6KA5	1.33540422
32	TLK1	1.30956647
33	TAF1	1.27253447
34	CDK9	1.27143205
35	CSNK1A1L	1.24529636
36	DAPK2	1.18000488
37	PLK4	1.16614803
38	GRK1	1.11206355
39	TGFBR1	1.09902924
40	ACVR1B	1.09654291
41	PLK3	1.05025165
42	PLK2	1.03982797
43	PRKD3	1.01076433
44	SCYL2	0.97144934
45	PRKCE	0.94833408
46	WEE1	0.94423694
47	PTK2	0.92340349
48	DAPK1	0.91270034
49	FLT3	0.88004634
50	MAP3K12	0.84827655
51	MUSK	0.84501615
52	WNK4	0.82358346
53	NME1	0.81587147
54	NME2	0.80794720
55	INSRR	0.77640586
56	TNK2	0.75354944
57	TTK	0.74722062
58	STK38L	0.71700208
59	DAPK3	0.69812263
60	TNIK	0.67388977
61	NTRK3	0.61601307
62	CDK8	0.61187054
63	SMG1	0.59594229
64	GSK3A	0.57150703
65	MAPK13	0.57031328
66	TEC	0.56752999
67	CHUK	0.55040534
68	EIF2AK3	0.54920329
69	TIE1	0.54799550
70	STK4	0.54078687
71	IGF1R	0.51737719
72	PHKG1	0.51618607
73	PHKG2	0.51618607
74	ERBB3	0.48039635
75	TSSK6	0.47844158
76	ADRBK1	0.46981799
77	ATR	0.45549101
78	PRKD1	0.44721163
79	ATM	0.44671268
80	ABL2	0.43547382
81	CDK7	0.42886724
82	ABL1	0.42285441
83	CLK1	0.37202466
84	CAMK2A	0.35961786
85	CHEK2	0.35391889
86	OXSR1	0.35199772
87	MAPK3	0.33693208
88	KDR	0.33316197
89	CSNK1A1	0.32166726
90	GRK5	0.31370467
91	CSNK1E	0.30528993
92	MAP4K1	0.29387327
93	PTK2B	0.27904556
94	CHEK1	0.27459093
95	PRKCQ	0.25889899
96	AURKA	0.24682759
97	PRKG2	0.23348820
98	AURKB	0.23104089
99	PRKCA	0.22791260
100	BRAF	0.22604593

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.10500130
2	Selenocompound metabolism_Homo sapiens_hsa00450	2.76503412
3	Proteasome_Homo sapiens_hsa03050	2.75759213
4	RNA polymerase_Homo sapiens_hsa03020	2.61624969
5	Non-homologous end-joining_Homo sapiens_hsa03450	2.56335148
6	One carbon pool by folate_Homo sapiens_hsa00670	2.36446280
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.14131317
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.09634207
9	Base excision repair_Homo sapiens_hsa03410	2.04508199
10	Propanoate metabolism_Homo sapiens_hsa00640	2.04462979
11	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.02812529
12	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	2.02046757
13	Pyrimidine metabolism_Homo sapiens_hsa00240	1.98835431
14	Fatty acid degradation_Homo sapiens_hsa00071	1.93523683
15	Peroxisome_Homo sapiens_hsa04146	1.90145148
16	DNA replication_Homo sapiens_hsa03030	1.82464962
17	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.73833575
18	Nitrogen metabolism_Homo sapiens_hsa00910	1.70881495
19	Parkinsons disease_Homo sapiens_hsa05012	1.69331634
20	Protein export_Homo sapiens_hsa03060	1.69198433
21	Butanoate metabolism_Homo sapiens_hsa00650	1.65550596
22	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.62039766
23	Fanconi anemia pathway_Homo sapiens_hsa03460	1.61929541
24	Mismatch repair_Homo sapiens_hsa03430	1.57244092
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.57098748
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.55256597
27	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.50531343
28	Purine metabolism_Homo sapiens_hsa00230	1.39163458
29	Folate biosynthesis_Homo sapiens_hsa00790	1.38972795
30	RNA degradation_Homo sapiens_hsa03018	1.34942936
31	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.31274905
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.28605866
33	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.28599659
34	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.24811777
35	Fatty acid metabolism_Homo sapiens_hsa01212	1.23915201
36	Homologous recombination_Homo sapiens_hsa03440	1.23487689
37	Huntingtons disease_Homo sapiens_hsa05016	1.22388519
38	Alzheimers disease_Homo sapiens_hsa05010	1.19234237
39	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.19196202
40	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.14502668
41	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.12279580
42	Sulfur metabolism_Homo sapiens_hsa00920	1.12244865
43	Caffeine metabolism_Homo sapiens_hsa00232	1.10981742
44	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.09154902
45	Phototransduction_Homo sapiens_hsa04744	1.06649967
46	Alcoholism_Homo sapiens_hsa05034	1.04718814
47	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.99844119
48	Metabolic pathways_Homo sapiens_hsa01100	0.98426368
49	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.97808794
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.92577527
51	Lysine degradation_Homo sapiens_hsa00310	0.91388981
52	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.90986200
53	Pentose phosphate pathway_Homo sapiens_hsa00030	0.90905259
54	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.90456232
55	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.90190276
56	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.88030536
57	Glutathione metabolism_Homo sapiens_hsa00480	0.84516742
58	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.83825993
59	Collecting duct acid secretion_Homo sapiens_hsa04966	0.82982487
60	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.80946077
61	Asthma_Homo sapiens_hsa05310	0.80322516
62	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.80155241
63	Nucleotide excision repair_Homo sapiens_hsa03420	0.78065208
64	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.77398795
65	Fatty acid elongation_Homo sapiens_hsa00062	0.77237064
66	Pyruvate metabolism_Homo sapiens_hsa00620	0.76489786
67	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.76037866
68	beta-Alanine metabolism_Homo sapiens_hsa00410	0.74816485
69	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.74236428
70	Insulin secretion_Homo sapiens_hsa04911	0.73960135
71	Retinol metabolism_Homo sapiens_hsa00830	0.66982087
72	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.66166585
73	Carbon metabolism_Homo sapiens_hsa01200	0.64581313
74	Olfactory transduction_Homo sapiens_hsa04740	0.62236545
75	ABC transporters_Homo sapiens_hsa02010	0.59655685
76	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.59652942
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.59319969
78	Fat digestion and absorption_Homo sapiens_hsa04975	0.57951639
79	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.56946765
80	Basal transcription factors_Homo sapiens_hsa03022	0.54655893
81	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.53722655
82	Type I diabetes mellitus_Homo sapiens_hsa04940	0.52651316
83	Renin secretion_Homo sapiens_hsa04924	0.52469414
84	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.52417814
85	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.51495889
86	Chemical carcinogenesis_Homo sapiens_hsa05204	0.50453986
87	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.50059767
88	Mineral absorption_Homo sapiens_hsa04978	0.49921086
89	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.49472592
90	Arginine biosynthesis_Homo sapiens_hsa00220	0.49222405
91	Steroid biosynthesis_Homo sapiens_hsa00100	0.46498396
92	Other glycan degradation_Homo sapiens_hsa00511	0.46489901
93	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.46091218
94	Arginine and proline metabolism_Homo sapiens_hsa00330	0.45759046
95	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.45298833
96	Sphingolipid metabolism_Homo sapiens_hsa00600	0.44307149
97	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.42108547
98	p53 signaling pathway_Homo sapiens_hsa04115	0.41551626
99	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.41390567
100	Cardiac muscle contraction_Homo sapiens_hsa04260	0.40745151

RPSAP33

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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