ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	activated T cell proliferation (GO:0050798)	5.69661043
2	DNA deamination (GO:0045006)	5.49942606
3	establishment of protein localization to mitochondrial membrane (GO:0090151)	5.25470621
4	ATP synthesis coupled proton transport (GO:0015986)	5.09223240
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.09223240
6	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	5.06376604
7	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	4.75885338
8	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.53788245
9	proteasome assembly (GO:0043248)	4.43493241
10	inner mitochondrial membrane organization (GO:0007007)	4.33159690
11	natural killer cell differentiation (GO:0001779)	4.29444378
12	GTP biosynthetic process (GO:0006183)	4.12009025
13	cytidine metabolic process (GO:0046087)	3.98297462
14	cytidine catabolic process (GO:0006216)	3.98297462
15	cytidine deamination (GO:0009972)	3.98297462
16	interferon-gamma production (GO:0032609)	3.94579290
17	regulation of B cell receptor signaling pathway (GO:0050855)	3.90587721
18	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.82743669
19	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.82743669
20	NADH dehydrogenase complex assembly (GO:0010257)	3.82743669
21	organelle membrane fusion (GO:0090174)	3.74325421
22	cellular response to exogenous dsRNA (GO:0071360)	3.68850029
23	purine-containing compound salvage (GO:0043101)	3.67702642
24	UTP biosynthetic process (GO:0006228)	3.63957205
25	protein neddylation (GO:0045116)	3.46296854
26	tolerance induction (GO:0002507)	3.45889039
27	UTP metabolic process (GO:0046051)	3.45337673
28	protein complex biogenesis (GO:0070271)	3.41962638
29	ribosomal large subunit biogenesis (GO:0042273)	3.37444564
30	guanosine-containing compound biosynthetic process (GO:1901070)	3.28579692
31	pseudouridine synthesis (GO:0001522)	3.24054952
32	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.20808647
33	viral mRNA export from host cell nucleus (GO:0046784)	3.18696097
34	mitochondrial respiratory chain complex assembly (GO:0033108)	3.14739449
35	GMP metabolic process (GO:0046037)	3.13720872
36	rRNA modification (GO:0000154)	3.10231863
37	electron transport chain (GO:0022900)	3.09455275
38	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.08383283
39	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.07792505
40	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.07419157
41	central nervous system myelination (GO:0022010)	3.06181814
42	axon ensheathment in central nervous system (GO:0032291)	3.06181814
43	respiratory electron transport chain (GO:0022904)	3.06067281
44	mast cell activation (GO:0045576)	3.04146860
45	positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	3.03299094
46	preassembly of GPI anchor in ER membrane (GO:0016254)	3.03251470
47	axonemal dynein complex assembly (GO:0070286)	3.02804348
48	water-soluble vitamin biosynthetic process (GO:0042364)	2.97882546
49	positive regulation of defense response to virus by host (GO:0002230)	2.96164384
50	positive regulation of natural killer cell mediated immunity (GO:0002717)	2.95931400
51	regulation of chronic inflammatory response (GO:0002676)	2.92798924
52	cellular response to interleukin-15 (GO:0071350)	2.90634911
53	urate metabolic process (GO:0046415)	2.89329831
54	CTP biosynthetic process (GO:0006241)	2.87561156
55	CTP metabolic process (GO:0046036)	2.87561156
56	L-fucose catabolic process (GO:0042355)	2.86364654
57	fucose catabolic process (GO:0019317)	2.86364654
58	L-fucose metabolic process (GO:0042354)	2.86364654
59	cullin deneddylation (GO:0010388)	2.85314395
60	regulation of antigen receptor-mediated signaling pathway (GO:0050854)	2.84745629
61	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.84096396
62	regulation of RIG-I signaling pathway (GO:0039535)	2.82690981
63	NAD biosynthetic process (GO:0009435)	2.81004616
64	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.79666860
65	termination of RNA polymerase III transcription (GO:0006386)	2.79666860
66	behavioral response to nicotine (GO:0035095)	2.77777750
67	IMP biosynthetic process (GO:0006188)	2.75717709
68	ATP biosynthetic process (GO:0006754)	2.74390778
69	rRNA methylation (GO:0031167)	2.73440148
70	response to interleukin-15 (GO:0070672)	2.72024177
71	regulation of defense response to virus by host (GO:0050691)	2.70111565
72	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.69691511
73	natural killer cell activation (GO:0030101)	2.68712267
74	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	2.68389085
75	intracellular protein transmembrane import (GO:0044743)	2.67773113
76	positive regulation of leukocyte mediated cytotoxicity (GO:0001912)	2.66715005
77	base-excision repair, AP site formation (GO:0006285)	2.66379926
78	mast cell degranulation (GO:0043303)	2.66237578
79	mast cell activation involved in immune response (GO:0002279)	2.66237578
80	regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)	2.65146848
81	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	2.63221951
82	mucosal-associated lymphoid tissue development (GO:0048537)	2.62043578
83	Peyers patch development (GO:0048541)	2.62043578
84	negative regulation of oligodendrocyte differentiation (GO:0048715)	2.61626284
85	purine nucleotide salvage (GO:0032261)	2.61571133
86	regulation of DNA endoreduplication (GO:0032875)	2.60719979
87	positive regulation of inflammatory response to antigenic stimulus (GO:0002863)	2.59845026
88	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	2.59770835
89	hydrogen transport (GO:0006818)	2.59423051
90	proton transport (GO:0015992)	2.59131863
91	production of molecular mediator involved in inflammatory response (GO:0002532)	2.58922129
92	positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)	2.57807707
93	protein deneddylation (GO:0000338)	2.57505520
94	autophagic vacuole fusion (GO:0000046)	2.56991174
95	IMP metabolic process (GO:0046040)	2.55579738
96	negative regulation of mast cell activation (GO:0033004)	2.54378428
97	hydrogen ion transmembrane transport (GO:1902600)	2.53121212
98	pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)	2.51534673
99	epithelial cilium movement (GO:0003351)	2.50827919
100	regulation of T cell receptor signaling pathway (GO:0050856)	2.47870632

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.90577749
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.44905645
3	VDR_22108803_ChIP-Seq_LS180_Human	3.44432420
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.17954218
5	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	3.17574595
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.96605824
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.80150589
8	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	2.66069191
9	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.64574994
10	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	2.61358377
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.52516184
12	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.51624038
13	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	2.44510273
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.42568394
15	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.38540858
16	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.34437503
17	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.18779489
18	IRF8_21731497_ChIP-ChIP_J774_Mouse	2.17068249
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.15086750
20	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.00792568
21	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.88246369
22	ZNF274_21170338_ChIP-Seq_K562_Hela	1.87919309
23	RUNX_20019798_ChIP-Seq_JUKART_Human	1.82204153
24	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.81856990
25	ELK1_19687146_ChIP-ChIP_HELA_Human	1.81784982
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.77315089
27	GATA3_26560356_Chip-Seq_TH2_Human	1.77272510
28	IGF1R_20145208_ChIP-Seq_DFB_Human	1.76767232
29	FOXP3_21729870_ChIP-Seq_TREG_Human	1.75432395
30	ER_23166858_ChIP-Seq_MCF-7_Human	1.69686673
31	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.65560935
32	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.55118084
33	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.54985578
34	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.54967354
35	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.48044820
36	FUS_26573619_Chip-Seq_HEK293_Human	1.47449470
37	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.46952270
38	MYB_26560356_Chip-Seq_TH2_Human	1.45538535
39	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.44185446
40	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.40799983
41	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.40478056
42	AR_20517297_ChIP-Seq_VCAP_Human	1.40006890
43	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.37548664
44	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.36152482
45	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.36152482
46	EWS_26573619_Chip-Seq_HEK293_Human	1.34497217
47	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.33325178
48	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	1.31484759
49	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.30275612
50	TP53_22573176_ChIP-Seq_HFKS_Human	1.30254511
51	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.29359998
52	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.27355928
53	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.27265288
54	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	1.26830251
55	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.26586998
56	P300_19829295_ChIP-Seq_ESCs_Human	1.25473233
57	TCF4_22108803_ChIP-Seq_LS180_Human	1.24527678
58	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.23066770
59	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.21961369
60	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.19755849
61	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.18982919
62	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.14991606
63	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.13632925
64	DCP1A_22483619_ChIP-Seq_HELA_Human	1.11602067
65	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.10700535
66	GATA3_26560356_Chip-Seq_TH1_Human	1.10413862
67	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.07472269
68	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.06046789
69	TAF2_19829295_ChIP-Seq_ESCs_Human	1.05881005
70	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.05116795
71	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.04932714
72	HOXB7_26014856_ChIP-Seq_BT474_Human	1.03398597
73	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.01944702
74	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.01416402
75	IRF8_27001747_Chip-Seq_BMDM_Mouse	1.01333685
76	GABP_19822575_ChIP-Seq_HepG2_Human	1.01321425
77	GATA3_27048872_Chip-Seq_THYMUS_Human	0.98924603
78	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.98887388
79	NANOG_19829295_ChIP-Seq_ESCs_Human	0.98473752
80	SOX2_19829295_ChIP-Seq_ESCs_Human	0.98473752
81	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.98472421
82	SPI1_23547873_ChIP-Seq_NB4_Human	0.98434510
83	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97155937
84	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.96524421
85	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.95317675
86	CBP_20019798_ChIP-Seq_JUKART_Human	0.95317675
87	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.94964030
88	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.94876764
89	ERA_21632823_ChIP-Seq_H3396_Human	0.94371019
90	MYC_18555785_ChIP-Seq_MESCs_Mouse	0.94312333
91	ERG_20517297_ChIP-Seq_VCAP_Human	0.94100792
92	CTBP2_25329375_ChIP-Seq_LNCAP_Human	0.93836995
93	BCAT_22108803_ChIP-Seq_LS180_Human	0.93096244
94	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.92988454
95	CDX2_22108803_ChIP-Seq_LS180_Human	0.92662918
96	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.92542910
97	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.91642994
98	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.91446264
99	CEBPB_22108803_ChIP-Seq_LS180_Human	0.90893514
100	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.89345687

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005671_abnormal_response_to	4.07072852
2	MP0001835_abnormal_antigen_presentation	3.47785479
3	MP0003436_decreased_susceptibility_to	3.23002970
4	MP0008877_abnormal_DNA_methylation	2.97071996
5	MP0008058_abnormal_DNA_repair	2.74876520
6	MP0002102_abnormal_ear_morphology	2.69663454
7	MP0002254_reproductive_system_inflammat	2.51808532
8	MP0003763_abnormal_thymus_physiology	2.39979354
9	MP0006072_abnormal_retinal_apoptosis	2.29092726
10	MP0009785_altered_susceptibility_to	2.14634574
11	MP0000685_abnormal_immune_system	2.13171051
12	MP0002166_altered_tumor_susceptibility	2.11753357
13	MP0004885_abnormal_endolymph	2.11050944
14	MP0004145_abnormal_muscle_electrophysio	2.05429786
15	MP0005084_abnormal_gallbladder_morpholo	2.03643056
16	MP0005645_abnormal_hypothalamus_physiol	2.01611768
17	MP0005000_abnormal_immune_tolerance	1.98616214
18	MP0002006_tumorigenesis	1.93268394
19	MP0001800_abnormal_humoral_immune	1.84976474
20	MP0000372_irregular_coat_pigmentation	1.84877159
21	MP0001790_abnormal_immune_system	1.78644509
22	MP0005387_immune_system_phenotype	1.78644509
23	MP0008057_abnormal_DNA_replication	1.75585629
24	MP0003567_abnormal_fetal_cardiomyocyte	1.75310008
25	MP0002148_abnormal_hypersensitivity_rea	1.74927573
26	MP0002638_abnormal_pupillary_reflex	1.74874505
27	MP0004147_increased_porphyrin_level	1.73470677
28	MP0000427_abnormal_hair_cycle	1.71367581
29	MP0001819_abnormal_immune_cell	1.65445878
30	MP0002420_abnormal_adaptive_immunity	1.63022638
31	MP0003183_abnormal_peptide_metabolism	1.59566815
32	MP0002876_abnormal_thyroid_physiology	1.59275563
33	MP0005670_abnormal_white_adipose	1.58052196
34	MP0002452_abnormal_antigen_presenting	1.57867042
35	MP0000569_abnormal_digit_pigmentation	1.57326482
36	MP0002723_abnormal_immune_serum	1.57231747
37	MP0001348_abnormal_lacrimal_gland	1.53517872
38	MP0003950_abnormal_plasma_membrane	1.50989733
39	MP0006036_abnormal_mitochondrial_physio	1.48841090
40	MP0006035_abnormal_mitochondrial_morpho	1.47489084
41	MP0005551_abnormal_eye_electrophysiolog	1.47413556
42	MP0005083_abnormal_biliary_tract	1.47025350
43	MP0002090_abnormal_vision	1.42752117
44	MP0005253_abnormal_eye_physiology	1.41518427
45	MP0003866_abnormal_defecation	1.39490494
46	MP0001968_abnormal_touch/_nociception	1.37742818
47	MP0005025_abnormal_response_to	1.36406945
48	MP0003011_delayed_dark_adaptation	1.29195404
49	MP0005377_hearing/vestibular/ear_phenot	1.28725983
50	MP0003878_abnormal_ear_physiology	1.28725983
51	MP0005167_abnormal_blood-brain_barrier	1.26064235
52	MP0002736_abnormal_nociception_after	1.23093422
53	MP0003195_calcinosis	1.20366983
54	MP0001502_abnormal_circadian_rhythm	1.18664031
55	MP0001440_abnormal_grooming_behavior	1.17763460
56	MP0003806_abnormal_nucleotide_metabolis	1.16870068
57	MP0004142_abnormal_muscle_tone	1.16505379
58	MP0000703_abnormal_thymus_morphology	1.15086174
59	MP0003787_abnormal_imprinting	1.12763456
60	MP0003724_increased_susceptibility_to	1.11455827
61	MP0008872_abnormal_physiological_respon	1.11131814
62	MP0003693_abnormal_embryo_hatching	1.10827233
63	MP0000716_abnormal_immune_system	1.10426735
64	MP0002398_abnormal_bone_marrow	1.08050105
65	MP0002419_abnormal_innate_immunity	1.07702639
66	MP0001984_abnormal_olfaction	1.07575474
67	MP0001845_abnormal_inflammatory_respons	1.05225890
68	MP0005075_abnormal_melanosome_morpholog	1.03991650
69	MP0005085_abnormal_gallbladder_physiolo	1.03938839
70	MP0002751_abnormal_autonomic_nervous	1.03644796
71	MP0005379_endocrine/exocrine_gland_phen	1.01434874
72	MP0005646_abnormal_pituitary_gland	0.99907856
73	MP0004043_abnormal_pH_regulation	0.98908653
74	MP0000689_abnormal_spleen_morphology	0.97487104
75	MP0002722_abnormal_immune_system	0.95458316
76	MP0001533_abnormal_skeleton_physiology	0.94867687
77	MP0005310_abnormal_salivary_gland	0.94547523
78	MP0001905_abnormal_dopamine_level	0.94144713
79	MP0002396_abnormal_hematopoietic_system	0.93029120
80	MP0003786_premature_aging	0.91768704
81	MP0010155_abnormal_intestine_physiology	0.89760561
82	MP0002837_dystrophic_cardiac_calcinosis	0.87162912
83	MP0001486_abnormal_startle_reflex	0.85301909
84	MP0003718_maternal_effect	0.84965806
85	MP0010094_abnormal_chromosome_stability	0.84150020
86	MP0008007_abnormal_cellular_replicative	0.81122465
87	MP0003300_gastrointestinal_ulcer	0.79783960
88	MP0002429_abnormal_blood_cell	0.79057678
89	MP0009379_abnormal_foot_pigmentation	0.79002470
90	MP0002405_respiratory_system_inflammati	0.77744551
91	MP0001727_abnormal_embryo_implantation	0.77501194
92	MP0000383_abnormal_hair_follicle	0.77301862
93	MP0006082_CNS_inflammation	0.75925342
94	MP0003638_abnormal_response/metabolism_	0.74838425
95	MP0004381_abnormal_hair_follicle	0.74774124
96	MP0009697_abnormal_copulation	0.73751843
97	MP0002138_abnormal_hepatobiliary_system	0.73088431
98	MP0003646_muscle_fatigue	0.72091852
99	MP0004215_abnormal_myocardial_fiber	0.71056003
100	MP0002272_abnormal_nervous_system	0.68688302

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Dynein arm defect of respiratory motile cilia (HP:0012255)	5.00573107
2	Absent/shortened dynein arms (HP:0200106)	5.00573107
3	Visual hallucinations (HP:0002367)	4.64353329
4	Increased neuronal autofluorescent lipopigment (HP:0002074)	4.48019964
5	Testicular atrophy (HP:0000029)	4.26704189
6	Autoimmune thrombocytopenia (HP:0001973)	4.25536239
7	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	3.93044522
8	Abnormal respiratory motile cilium morphology (HP:0005938)	3.86787985
9	Abnormal respiratory epithelium morphology (HP:0012253)	3.86787985
10	Optic neuritis (HP:0100653)	3.65416461
11	Retrobulbar optic neuritis (HP:0100654)	3.65416461
12	Increased cerebral lipofuscin (HP:0011813)	3.57144855
13	Acute necrotizing encephalopathy (HP:0006965)	3.55541222
14	3-Methylglutaconic aciduria (HP:0003535)	3.53529694
15	Abnormality of the prostate (HP:0008775)	3.48452126
16	Autoimmune hemolytic anemia (HP:0001890)	3.46209100
17	Abnormal ciliary motility (HP:0012262)	3.44805159
18	Dyschromatopsia (HP:0007641)	3.26346050
19	Congenital stationary night blindness (HP:0007642)	3.17327867
20	Increased CSF lactate (HP:0002490)	3.15209881
21	Elevated erythrocyte sedimentation rate (HP:0003565)	3.13046394
22	Abnormal respiratory motile cilium physiology (HP:0012261)	3.10076488
23	Stomatitis (HP:0010280)	3.08950603
24	Abnormal mitochondria in muscle tissue (HP:0008316)	3.08440264
25	Myositis (HP:0100614)	3.07638468
26	Aplastic anemia (HP:0001915)	3.00940196
27	Mitochondrial inheritance (HP:0001427)	3.00939119
28	Progressive macrocephaly (HP:0004481)	2.97014422
29	Keratoconjunctivitis (HP:0001096)	2.96443598
30	Orchitis (HP:0100796)	2.93835085
31	Acute encephalopathy (HP:0006846)	2.89728837
32	Tetraparesis (HP:0002273)	2.87950839
33	Asplenia (HP:0001746)	2.83645016
34	Abnormality of T cell physiology (HP:0011840)	2.77816106
35	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.66984600
36	Supernumerary spleens (HP:0009799)	2.66897418
37	Lipid accumulation in hepatocytes (HP:0006561)	2.65287260
38	Prostate neoplasm (HP:0100787)	2.63644698
39	Abnormality of the renal cortex (HP:0011035)	2.59609218
40	Joint swelling (HP:0001386)	2.58175530
41	Pulmonary infiltrates (HP:0002113)	2.52775880
42	Increased hepatocellular lipid droplets (HP:0006565)	2.52671647
43	Renal cortical cysts (HP:0000803)	2.50658884
44	Chronic bronchitis (HP:0004469)	2.50367332
45	Opisthotonus (HP:0002179)	2.50243470
46	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.49343521
47	Papilledema (HP:0001085)	2.47231676
48	IgG deficiency (HP:0004315)	2.47128332
49	Abnormality of T cells (HP:0002843)	2.45382659
50	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.39620508
51	Panhypogammaglobulinemia (HP:0003139)	2.32772935
52	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.31476423
53	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.31476423
54	Central scotoma (HP:0000603)	2.29299952
55	Cerebral hemorrhage (HP:0001342)	2.28406273
56	Abnormality of male internal genitalia (HP:0000022)	2.27294184
57	Cerebral edema (HP:0002181)	2.26746673
58	Increased serum lactate (HP:0002151)	2.26317409
59	Bronchiectasis (HP:0002110)	2.25264320
60	Increased intramyocellular lipid droplets (HP:0012240)	2.22230546
61	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.21100023
62	Constricted visual fields (HP:0001133)	2.19907830
63	Recurrent cutaneous fungal infections (HP:0011370)	2.14925232
64	Chronic mucocutaneous candidiasis (HP:0002728)	2.14925232
65	Hepatocellular necrosis (HP:0001404)	2.14848992
66	Keratoconjunctivitis sicca (HP:0001097)	2.12999370
67	Abnormality of the labia minora (HP:0012880)	2.12723550
68	Rhinitis (HP:0012384)	2.12432260
69	Optic disc pallor (HP:0000543)	2.10924215
70	Exertional dyspnea (HP:0002875)	2.10475908
71	Parakeratosis (HP:0001036)	2.07674535
72	Methylmalonic acidemia (HP:0002912)	2.03773216
73	Oligodactyly (hands) (HP:0001180)	2.02190662
74	Increased muscle lipid content (HP:0009058)	2.01166607
75	Lactic acidosis (HP:0003128)	1.99465282
76	Spastic diplegia (HP:0001264)	1.98569613
77	Gangrene (HP:0100758)	1.98083603
78	Anorexia (HP:0002039)	1.97104368
79	Encephalitis (HP:0002383)	1.96789360
80	Hypothermia (HP:0002045)	1.95835329
81	Abnormality of purine metabolism (HP:0004352)	1.93568995
82	Megaloblastic anemia (HP:0001889)	1.92802269
83	Abnormality of placental membranes (HP:0011409)	1.91454090
84	Amniotic constriction ring (HP:0009775)	1.91454090
85	Arthropathy (HP:0003040)	1.91444223
86	Abnormality of B cell number (HP:0010975)	1.91119089
87	Chronic hepatic failure (HP:0100626)	1.90941333
88	Vasculitis (HP:0002633)	1.89582806
89	Molar tooth sign on MRI (HP:0002419)	1.87680282
90	Abnormality of midbrain morphology (HP:0002418)	1.87680282
91	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.87307584
92	Carpal bone hypoplasia (HP:0001498)	1.86080718
93	Mediastinal lymphadenopathy (HP:0100721)	1.85586327
94	Respiratory failure (HP:0002878)	1.84733850
95	Pancreatic cysts (HP:0001737)	1.83059548
96	Recurrent viral infections (HP:0004429)	1.82417030
97	Hepatic necrosis (HP:0002605)	1.82182673
98	Hypoproteinemia (HP:0003075)	1.81233295
99	Renal Fanconi syndrome (HP:0001994)	1.81008666
100	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.80847609

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TXK	3.99190395
2	MAP4K2	3.84211944
3	EIF2AK3	3.42392289
4	MST4	3.36547628
5	TSSK6	3.28768822
6	MAP2K6	2.97786332
7	STK16	2.77023006
8	BMPR2	2.51402561
9	MAP4K1	2.39240458
10	TLK1	2.36108904
11	TEC	2.32561155
12	NEK1	2.09047985
13	VRK2	2.05599475
14	CAMKK2	2.05504036
15	PNCK	2.03233616
16	ADRBK2	1.84787207
17	TAOK3	1.82776154
18	BTK	1.73859876
19	SRPK1	1.64324155
20	FRK	1.59580352
21	IKBKB	1.48803341
22	EPHA3	1.48783635
23	BRSK2	1.46426562
24	ZAK	1.46216882
25	ITK	1.42658281
26	GRK1	1.41134302
27	FGR	1.39337774
28	MAP3K14	1.39092489
29	IKBKE	1.30259728
30	VRK1	1.27513250
31	TAF1	1.26267201
32	FES	1.23596940
33	JAK3	1.20484216
34	PIK3CG	1.20310589
35	PDK2	1.15936920
36	DYRK2	1.08692359
37	MAP3K12	1.05516538
38	IRAK1	1.01779582
39	WEE1	0.98654748
40	EIF2AK1	0.94457143
41	LYN	0.89851236
42	STK39	0.89697157
43	CSF1R	0.89242640
44	OXSR1	0.89179115
45	WNK4	0.88635087
46	DAPK2	0.83789706
47	FLT3	0.82445349
48	PLK2	0.80379815
49	TNK2	0.79070773
50	TBK1	0.78448312
51	SYK	0.76510721
52	PINK1	0.75899049
53	NTRK2	0.74724080
54	PLK4	0.74043178
55	PHKG1	0.73588268
56	PHKG2	0.73588268
57	PLK3	0.73010101
58	GRK6	0.72546745
59	LCK	0.69649885
60	MATK	0.69003690
61	MAP3K11	0.68168274
62	KIT	0.64778747
63	JAK1	0.63553496
64	NUAK1	0.62055759
65	ZAP70	0.61959505
66	BRD4	0.55097973
67	CDC7	0.53606136
68	GRK5	0.53229733
69	PTK2B	0.52873363
70	INSRR	0.51317820
71	ALK	0.50894788
72	IGF1R	0.50736733
73	CAMKK1	0.49085296
74	NLK	0.48849096
75	PAK3	0.47003589
76	PASK	0.46667193
77	CLK1	0.46141593
78	TIE1	0.42535932
79	MYLK	0.41062619
80	MAPK15	0.40929589
81	CASK	0.37838702
82	CSNK1A1L	0.36015135
83	CAMK2A	0.36002624
84	RPS6KB1	0.35534634
85	NEK6	0.35184677
86	CAMK2D	0.34703060
87	CDK8	0.32964815
88	CSK	0.31392656
89	ADRBK1	0.30464387
90	BRSK1	0.29892407
91	PRKCE	0.29710958
92	CSNK2A1	0.29647629
93	EIF2AK2	0.27389529
94	NTRK3	0.27344856
95	HCK	0.27076364
96	CSNK2A2	0.26536732
97	SIK3	0.26499037
98	PRKCD	0.26129671
99	BLK	0.25027934
100	PRKCG	0.24416111

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.64622415
2	Oxidative phosphorylation_Homo sapiens_hsa00190	3.36611396
3	Graft-versus-host disease_Homo sapiens_hsa05332	3.29018729
4	Protein export_Homo sapiens_hsa03060	3.04601162
5	Asthma_Homo sapiens_hsa05310	2.88333214
6	Parkinsons disease_Homo sapiens_hsa05012	2.81425711
7	Allograft rejection_Homo sapiens_hsa05330	2.67841976
8	Antigen processing and presentation_Homo sapiens_hsa04612	2.40525463
9	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.39212052
10	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.37949262
11	Type I diabetes mellitus_Homo sapiens_hsa04940	2.33326112
12	Ribosome_Homo sapiens_hsa03010	2.13853336
13	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	2.09713384
14	Primary immunodeficiency_Homo sapiens_hsa05340	1.95727324
15	RNA polymerase_Homo sapiens_hsa03020	1.95140161
16	Basal transcription factors_Homo sapiens_hsa03022	1.88058989
17	Non-homologous end-joining_Homo sapiens_hsa03450	1.76519070
18	One carbon pool by folate_Homo sapiens_hsa00670	1.75687710
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.74247583
20	Huntingtons disease_Homo sapiens_hsa05016	1.72012359
21	Alzheimers disease_Homo sapiens_hsa05010	1.70533632
22	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.68363210
23	Homologous recombination_Homo sapiens_hsa03440	1.65132969
24	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.58431472
25	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.55604209
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.44430489
27	Cardiac muscle contraction_Homo sapiens_hsa04260	1.30053207
28	RNA degradation_Homo sapiens_hsa03018	1.26742912
29	Rheumatoid arthritis_Homo sapiens_hsa05323	1.25877525
30	Spliceosome_Homo sapiens_hsa03040	1.24594298
31	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.20328105
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.17653923
33	Linoleic acid metabolism_Homo sapiens_hsa00591	1.15893878
34	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.15312840
35	Propanoate metabolism_Homo sapiens_hsa00640	1.12465083
36	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.12046046
37	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.09000946
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.03844031
39	Phototransduction_Homo sapiens_hsa04744	1.03165702
40	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.99406256
41	Fanconi anemia pathway_Homo sapiens_hsa03460	0.97884018
42	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.95357306
43	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.95007303
44	Leishmaniasis_Homo sapiens_hsa05140	0.94756779
45	Nitrogen metabolism_Homo sapiens_hsa00910	0.91851634
46	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.90751521
47	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.89748271
48	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.88473553
49	Nucleotide excision repair_Homo sapiens_hsa03420	0.88232229
50	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.87502968
51	Pyrimidine metabolism_Homo sapiens_hsa00240	0.87321430
52	Collecting duct acid secretion_Homo sapiens_hsa04966	0.86225541
53	Purine metabolism_Homo sapiens_hsa00230	0.80839948
54	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.78925691
55	Sulfur metabolism_Homo sapiens_hsa00920	0.78705643
56	Tryptophan metabolism_Homo sapiens_hsa00380	0.78343367
57	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.78140109
58	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.77750481
59	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.75870820
60	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.73738938
61	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.73107513
62	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.72886478
63	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.71320630
64	Viral myocarditis_Homo sapiens_hsa05416	0.71250612
65	Mismatch repair_Homo sapiens_hsa03430	0.69439748
66	Measles_Homo sapiens_hsa05162	0.68936959
67	DNA replication_Homo sapiens_hsa03030	0.62120549
68	RNA transport_Homo sapiens_hsa03013	0.61791734
69	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.59711492
70	Caffeine metabolism_Homo sapiens_hsa00232	0.56227300
71	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.54937747
72	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.54370973
73	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.51792407
74	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.51059478
75	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.49376995
76	Regulation of autophagy_Homo sapiens_hsa04140	0.47568776
77	Metabolic pathways_Homo sapiens_hsa01100	0.46899501
78	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.43566365
79	Tuberculosis_Homo sapiens_hsa05152	0.43409813
80	Selenocompound metabolism_Homo sapiens_hsa00450	0.42041554
81	Butanoate metabolism_Homo sapiens_hsa00650	0.40798618
82	Chemical carcinogenesis_Homo sapiens_hsa05204	0.40540684
83	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.40382727
84	Peroxisome_Homo sapiens_hsa04146	0.37859256
85	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.37686657
86	Taste transduction_Homo sapiens_hsa04742	0.36462702
87	Legionellosis_Homo sapiens_hsa05134	0.35890219
88	Pyruvate metabolism_Homo sapiens_hsa00620	0.35677404
89	Fatty acid degradation_Homo sapiens_hsa00071	0.35584547
90	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.34627204
91	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.33963535
92	Base excision repair_Homo sapiens_hsa03410	0.33927963
93	Nicotine addiction_Homo sapiens_hsa05033	0.33910880
94	Fatty acid metabolism_Homo sapiens_hsa01212	0.33410502
95	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.33070090
96	Herpes simplex infection_Homo sapiens_hsa05168	0.33020193
97	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.32284958
98	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.30776771
99	Morphine addiction_Homo sapiens_hsa05032	0.30572630
100	Influenza A_Homo sapiens_hsa05164	0.30050852

RPS3AP32

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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