ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ribosomal large subunit biogenesis (GO:0042273)	5.70602099
2	ribosomal small subunit assembly (GO:0000028)	5.57598488
3	mitochondrial respiratory chain complex assembly (GO:0033108)	5.21834042
4	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.19064822
5	NADH dehydrogenase complex assembly (GO:0010257)	5.19064822
6	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.19064822
7	viral transcription (GO:0019083)	5.16004637
8	translational termination (GO:0006415)	5.12717369
9	water-soluble vitamin biosynthetic process (GO:0042364)	4.94873101
10	protein complex biogenesis (GO:0070271)	4.88778711
11	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.63553730
12	ATP synthesis coupled proton transport (GO:0015986)	4.63553730
13	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	4.48503747
14	cotranslational protein targeting to membrane (GO:0006613)	4.47123065
15	protein targeting to ER (GO:0045047)	4.45006919
16	inner mitochondrial membrane organization (GO:0007007)	4.41548811
17	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.38553310
18	establishment of protein localization to endoplasmic reticulum (GO:0072599)	4.29602051
19	protein localization to endoplasmic reticulum (GO:0070972)	4.20332378
20	translational elongation (GO:0006414)	4.16829134
21	maturation of SSU-rRNA (GO:0030490)	4.15903206
22	synapsis (GO:0007129)	4.04402240
23	regulation of mitochondrial translation (GO:0070129)	3.85784302
24	piRNA metabolic process (GO:0034587)	3.83706678
25	cellular protein complex disassembly (GO:0043624)	3.77212196
26	viral life cycle (GO:0019058)	3.77026929
27	translational initiation (GO:0006413)	3.73648789
28	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.70629361
29	GTP biosynthetic process (GO:0006183)	3.68533886
30	behavioral response to nicotine (GO:0035095)	3.64462632
31	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	3.60916666
32	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.60567768
33	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.55399813
34	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.55088651
35	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.55088651
36	DNA replication checkpoint (GO:0000076)	3.51986701
37	respiratory electron transport chain (GO:0022904)	3.51739910
38	electron transport chain (GO:0022900)	3.48149602
39	DNA double-strand break processing (GO:0000729)	3.48147099
40	ribosomal small subunit biogenesis (GO:0042274)	3.46427249
41	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	3.44377469
42	tRNA methylation (GO:0030488)	3.43256342
43	chaperone-mediated protein transport (GO:0072321)	3.40815662
44	UTP metabolic process (GO:0046051)	3.40740916
45	UTP biosynthetic process (GO:0006228)	3.39999746
46	protein K6-linked ubiquitination (GO:0085020)	3.39745297
47	respiratory chain complex IV assembly (GO:0008535)	3.35667626
48	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.30387136
49	somite development (GO:0061053)	3.27749452
50	folic acid-containing compound biosynthetic process (GO:0009396)	3.26420891
51	DNA deamination (GO:0045006)	3.25408928
52	spliceosomal snRNP assembly (GO:0000387)	3.23403589
53	aldehyde catabolic process (GO:0046185)	3.21456956
54	cellular component biogenesis (GO:0044085)	3.20143375
55	translation (GO:0006412)	3.17034434
56	protein neddylation (GO:0045116)	3.13696253
57	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.13296192
58	regulation of mitotic spindle checkpoint (GO:1903504)	3.13296192
59	cytochrome complex assembly (GO:0017004)	3.10456620
60	protein complex disassembly (GO:0043241)	3.09456737
61	cardiolipin metabolic process (GO:0032048)	3.05277750
62	serine family amino acid biosynthetic process (GO:0009070)	3.05213445
63	regulation of mesenchymal cell apoptotic process (GO:2001053)	3.02500345
64	transcription-coupled nucleotide-excision repair (GO:0006283)	3.01047820
65	retinal cone cell development (GO:0046549)	2.99411692
66	hydrogen ion transmembrane transport (GO:1902600)	2.99073802
67	tRNA modification (GO:0006400)	2.96807341
68	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.91198609
69	termination of RNA polymerase III transcription (GO:0006386)	2.91198609
70	macromolecular complex disassembly (GO:0032984)	2.89908963
71	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.89873584
72	protein targeting to membrane (GO:0006612)	2.86012292
73	male meiosis (GO:0007140)	2.85738796
74	polarized epithelial cell differentiation (GO:0030859)	2.85144832
75	nuclear-transcribed mRNA catabolic process (GO:0000956)	2.84654918
76	organelle membrane fusion (GO:0090174)	2.82084217
77	telomere maintenance via semi-conservative replication (GO:0032201)	2.82078736
78	ribonucleoprotein complex biogenesis (GO:0022613)	2.81433782
79	tRNA processing (GO:0008033)	2.80809530
80	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.78990834
81	spliceosomal complex assembly (GO:0000245)	2.78649709
82	peptidyl-histidine modification (GO:0018202)	2.74827688
83	mitochondrial RNA metabolic process (GO:0000959)	2.74820614
84	oxidative demethylation (GO:0070989)	2.74579466
85	nucleotide-excision repair, DNA damage removal (GO:0000718)	2.74522594
86	DNA excision (GO:0044349)	2.74522594
87	termination of RNA polymerase I transcription (GO:0006363)	2.72982206
88	arginine metabolic process (GO:0006525)	2.72404399
89	nucleobase biosynthetic process (GO:0046112)	2.71571096
90	mRNA catabolic process (GO:0006402)	2.69976929
91	proton transport (GO:0015992)	2.68744730
92	DNA methylation involved in gamete generation (GO:0043046)	2.68102989
93	7-methylguanosine mRNA capping (GO:0006370)	2.67939373
94	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.66929945
95	autophagic vacuole fusion (GO:0000046)	2.64942445
96	intracellular protein transmembrane import (GO:0044743)	2.64631683
97	hydrogen transport (GO:0006818)	2.62497422
98	positive regulation of T cell apoptotic process (GO:0070234)	2.61548142
99	DNA damage response, detection of DNA damage (GO:0042769)	2.60740391
100	7-methylguanosine RNA capping (GO:0009452)	2.60599388

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.18462645
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.10162151
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.79100149
4	E2F7_22180533_ChIP-Seq_HELA_Human	3.53120434
5	ZNF274_21170338_ChIP-Seq_K562_Hela	3.28384891
6	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	3.27606626
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.99333948
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.89598679
9	ELK1_19687146_ChIP-ChIP_HELA_Human	2.72311084
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.51726989
11	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.51150848
12	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.48695352
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.41077956
14	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.24948703
15	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.23833169
16	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.18153524
17	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.17563178
18	VDR_23849224_ChIP-Seq_CD4+_Human	2.06018240
19	EWS_26573619_Chip-Seq_HEK293_Human	1.91255676
20	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.89152171
21	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.80516726
22	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.76721200
23	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.76576745
24	TP53_22573176_ChIP-Seq_HFKS_Human	1.76468269
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.75346344
26	FOXP3_21729870_ChIP-Seq_TREG_Human	1.73110068
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.70184654
28	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.60390673
29	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.48919441
30	TTF2_22483619_ChIP-Seq_HELA_Human	1.48739504
31	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.47618960
32	FUS_26573619_Chip-Seq_HEK293_Human	1.45699871
33	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.43043342
34	IGF1R_20145208_ChIP-Seq_DFB_Human	1.40904170
35	BCAT_22108803_ChIP-Seq_LS180_Human	1.38214555
36	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.35536040
37	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.34819561
38	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.34448940
39	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.32712011
40	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.32173185
41	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.30273600
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.30273600
43	P300_19829295_ChIP-Seq_ESCs_Human	1.30196682
44	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.29931929
45	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.28802936
46	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.28297914
47	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.28297239
48	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.27155242
49	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.25847499
50	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.25149363
51	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.23192351
52	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.19312146
53	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.19071695
54	SOX2_19829295_ChIP-Seq_ESCs_Human	1.18891860
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.18891860
56	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.18697267
57	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.16790764
58	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.16337213
59	AR_20517297_ChIP-Seq_VCAP_Human	1.15637970
60	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.14799229
61	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.12395657
62	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.11156838
63	ER_23166858_ChIP-Seq_MCF-7_Human	1.09585769
64	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.08999768
65	NCOR_22424771_ChIP-Seq_293T_Human	1.07828331
66	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.06765113
67	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.06138425
68	CBP_20019798_ChIP-Seq_JUKART_Human	1.06138425
69	ERG_20517297_ChIP-Seq_VCAP_Human	1.05814664
70	ERA_21632823_ChIP-Seq_H3396_Human	1.04913149
71	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.03856551
72	IRF1_19129219_ChIP-ChIP_H3396_Human	1.03845698
73	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	1.03503767
74	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.01884043
75	GABP_19822575_ChIP-Seq_HepG2_Human	1.01186832
76	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.00588921
77	TAF15_26573619_Chip-Seq_HEK293_Human	0.99049385
78	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.99004072
79	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.97824683
80	HOXB4_20404135_ChIP-ChIP_EML_Mouse	0.97674933
81	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.96452237
82	DCP1A_22483619_ChIP-Seq_HELA_Human	0.95307830
83	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.94881696
84	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.94609683
85	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.93768783
86	TCF4_22108803_ChIP-Seq_LS180_Human	0.92470826
87	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.92277957
88	HOXB7_26014856_ChIP-Seq_BT474_Human	0.92181887
89	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.91346072
90	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.89825210
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.89732238
92	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.89003414
93	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.87963317
94	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.87304764
95	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.87204515
96	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.86367274
97	GATA3_26560356_Chip-Seq_TH2_Human	0.86332753
98	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	0.85705215
99	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.85437543
100	P53_21459846_ChIP-Seq_SAOS-2_Human	0.83497624

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	5.55229040
2	MP0008877_abnormal_DNA_methylation	5.26679790
3	MP0004885_abnormal_endolymph	3.57154861
4	MP0003941_abnormal_skin_development	3.49852638
5	MP0001873_stomach_inflammation	2.88336497
6	MP0003195_calcinosis	2.85784183
7	MP0003806_abnormal_nucleotide_metabolis	2.67597517
8	MP0002138_abnormal_hepatobiliary_system	2.66962499
9	MP0006292_abnormal_olfactory_placode	2.46501332
10	MP0008058_abnormal_DNA_repair	2.40245237
11	MP0004742_abnormal_vestibular_system	2.14281618
12	MP0006072_abnormal_retinal_apoptosis	2.13707068
13	MP0002254_reproductive_system_inflammat	2.10620230
14	MP0002938_white_spotting	2.07074479
15	MP0001485_abnormal_pinna_reflex	2.06234138
16	MP0003718_maternal_effect	2.02390591
17	MP0005551_abnormal_eye_electrophysiolog	2.02232466
18	MP0008875_abnormal_xenobiotic_pharmacok	1.92903824
19	MP0003693_abnormal_embryo_hatching	1.78024879
20	MP0000383_abnormal_hair_follicle	1.77952343
21	MP0000427_abnormal_hair_cycle	1.73624126
22	MP0002102_abnormal_ear_morphology	1.67682995
23	MP0003646_muscle_fatigue	1.63620704
24	MP0005084_abnormal_gallbladder_morpholo	1.60935025
25	MP0008872_abnormal_physiological_respon	1.58952176
26	MP0000647_abnormal_sebaceous_gland	1.52258540
27	MP0010094_abnormal_chromosome_stability	1.51411895
28	MP0004145_abnormal_muscle_electrophysio	1.46076762
29	MP0003283_abnormal_digestive_organ	1.44821074
30	MP0003183_abnormal_peptide_metabolism	1.43679116
31	MP0002277_abnormal_respiratory_mucosa	1.40876240
32	MP0002837_dystrophic_cardiac_calcinosis	1.36186041
33	MP0001968_abnormal_touch/_nociception	1.33387242
34	MP0001984_abnormal_olfaction	1.33023261
35	MP0006035_abnormal_mitochondrial_morpho	1.32037881
36	MP0000631_abnormal_neuroendocrine_gland	1.29880158
37	MP0005253_abnormal_eye_physiology	1.26985522
38	MP0001986_abnormal_taste_sensitivity	1.23896541
39	MP0001293_anophthalmia	1.20902122
40	MP0002876_abnormal_thyroid_physiology	1.19366964
41	MP0004133_heterotaxia	1.15789777
42	MP0001348_abnormal_lacrimal_gland	1.15490413
43	MP0003011_delayed_dark_adaptation	1.15346566
44	MP0002282_abnormal_trachea_morphology	1.14889277
45	MP0005187_abnormal_penis_morphology	1.14811326
46	MP0001529_abnormal_vocalization	1.14678092
47	MP0002751_abnormal_autonomic_nervous	1.13777518
48	MP0002095_abnormal_skin_pigmentation	1.13241022
49	MP0004019_abnormal_vitamin_homeostasis	1.12615943
50	MP0002272_abnormal_nervous_system	1.08707009
51	MP0005075_abnormal_melanosome_morpholog	1.02490135
52	MP0004142_abnormal_muscle_tone	1.00750371
53	MP0002210_abnormal_sex_determination	1.00733277
54	MP0004957_abnormal_blastocyst_morpholog	0.99925912
55	MP0005377_hearing/vestibular/ear_phenot	0.99697859
56	MP0003878_abnormal_ear_physiology	0.99697859
57	MP0009046_muscle_twitch	0.97870606
58	MP0002098_abnormal_vibrissa_morphology	0.97470724
59	MP0001270_distended_abdomen	0.96926490
60	MP0006036_abnormal_mitochondrial_physio	0.94249424
61	MP0000049_abnormal_middle_ear	0.93815636
62	MP0005645_abnormal_hypothalamus_physiol	0.92042227
63	MP0002736_abnormal_nociception_after	0.89496952
64	MP0003186_abnormal_redox_activity	0.89289310
65	MP0010678_abnormal_skin_adnexa	0.86245313
66	MP0003315_abnormal_perineum_morphology	0.85849253
67	MP0009745_abnormal_behavioral_response	0.85523566
68	MP0003786_premature_aging	0.83578197
69	MP0005670_abnormal_white_adipose	0.83038741
70	MP0005332_abnormal_amino_acid	0.83018457
71	MP0002396_abnormal_hematopoietic_system	0.81100557
72	MP0008007_abnormal_cellular_replicative	0.79742915
73	MP0004043_abnormal_pH_regulation	0.79519442
74	MP0005195_abnormal_posterior_eye	0.79127665
75	MP0003890_abnormal_embryonic-extraembry	0.77939868
76	MP0002928_abnormal_bile_duct	0.76857876
77	MP0005174_abnormal_tail_pigmentation	0.75409140
78	MP0000230_abnormal_systemic_arterial	0.74913559
79	MP0000026_abnormal_inner_ear	0.74289493
80	MP0003252_abnormal_bile_duct	0.73823942
81	MP0005671_abnormal_response_to	0.68269393
82	MP0000653_abnormal_sex_gland	0.67700755
83	MP0003950_abnormal_plasma_membrane	0.66725276
84	MP0002234_abnormal_pharynx_morphology	0.65983227
85	MP0002557_abnormal_social/conspecific_i	0.65778927
86	MP0000372_irregular_coat_pigmentation	0.64950734
87	MP0001929_abnormal_gametogenesis	0.64825265
88	MP0002638_abnormal_pupillary_reflex	0.64334671
89	MP0005636_abnormal_mineral_homeostasis	0.63977079
90	MP0001905_abnormal_dopamine_level	0.63131520
91	MP0008775_abnormal_heart_ventricle	0.62327367
92	MP0001963_abnormal_hearing_physiology	0.59818149
93	MP0005646_abnormal_pituitary_gland	0.59368868
94	MP0001119_abnormal_female_reproductive	0.59039696
95	MP0001664_abnormal_digestion	0.58054938
96	MP0001881_abnormal_mammary_gland	0.57989264
97	MP0001145_abnormal_male_reproductive	0.57203046
98	MP0001286_abnormal_eye_development	0.56232310
99	MP0005448_abnormal_energy_balance	0.55401541
100	MP0002184_abnormal_innervation	0.54652915

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Methylmalonic acidemia (HP:0002912)	4.09515594
2	Colon cancer (HP:0003003)	3.79210179
3	Acute necrotizing encephalopathy (HP:0006965)	3.49549197
4	Acute encephalopathy (HP:0006846)	3.26705165
5	Methylmalonic aciduria (HP:0012120)	3.21360176
6	Abnormality of the ileum (HP:0001549)	3.11501949
7	Abnormality of midbrain morphology (HP:0002418)	3.08460346
8	Molar tooth sign on MRI (HP:0002419)	3.08460346
9	Mitochondrial inheritance (HP:0001427)	3.06256282
10	Abnormal mitochondria in muscle tissue (HP:0008316)	2.98389766
11	3-Methylglutaconic aciduria (HP:0003535)	2.97804237
12	Increased CSF lactate (HP:0002490)	2.97397913
13	Progressive macrocephaly (HP:0004481)	2.93699867
14	Reticulocytopenia (HP:0001896)	2.91447758
15	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.88147402
16	Macrocytic anemia (HP:0001972)	2.86490317
17	Congenital stationary night blindness (HP:0007642)	2.84257734
18	Bilateral microphthalmos (HP:0007633)	2.82060055
19	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.80534304
20	Large for gestational age (HP:0001520)	2.79101140
21	Renal cortical cysts (HP:0000803)	2.73273918
22	Congenital, generalized hypertrichosis (HP:0004540)	2.72191266
23	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.71295067
24	Abnormality of alanine metabolism (HP:0010916)	2.71295067
25	Hyperalaninemia (HP:0003348)	2.71295067
26	Abnormality of the carotid arteries (HP:0005344)	2.70127690
27	Meckel diverticulum (HP:0002245)	2.69903216
28	Abnormality of serum amino acid levels (HP:0003112)	2.68619285
29	Hyperglycinemia (HP:0002154)	2.68243463
30	Poor head control (HP:0002421)	2.64544053
31	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.60704105
32	Birth length less than 3rd percentile (HP:0003561)	2.59280462
33	Morphological abnormality of the inner ear (HP:0011390)	2.56668048
34	Morphological abnormality of the middle ear (HP:0008609)	2.56583875
35	Pancreatic fibrosis (HP:0100732)	2.55265523
36	Absent thumb (HP:0009777)	2.53392971
37	Pallor (HP:0000980)	2.51361315
38	Abnormality of the preputium (HP:0100587)	2.46820846
39	Increased serum lactate (HP:0002151)	2.45761321
40	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.45704675
41	Lactic acidosis (HP:0003128)	2.43132441
42	Hepatocellular necrosis (HP:0001404)	2.37686795
43	Medial flaring of the eyebrow (HP:0010747)	2.35538576
44	Abnormal rod and cone electroretinograms (HP:0008323)	2.32474540
45	Abnormality of the renal cortex (HP:0011035)	2.31614700
46	Triphalangeal thumb (HP:0001199)	2.30901601
47	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.30626469
48	Pancreatic islet-cell hyperplasia (HP:0004510)	2.29695768
49	Abnormality of vitamin B metabolism (HP:0004340)	2.28116279
50	Cerebral edema (HP:0002181)	2.26769428
51	Pancreatic cysts (HP:0001737)	2.26488275
52	Clubbing of toes (HP:0100760)	2.26316915
53	Hepatic necrosis (HP:0002605)	2.23554175
54	Cerebellar dysplasia (HP:0007033)	2.16208724
55	Abnormality of methionine metabolism (HP:0010901)	2.14964775
56	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.14924923
57	Abnormality of chromosome stability (HP:0003220)	2.13878121
58	Asplenia (HP:0001746)	2.12742722
59	Congenital primary aphakia (HP:0007707)	2.11558908
60	Gait imbalance (HP:0002141)	2.10723241
61	Abnormality of cells of the erythroid lineage (HP:0012130)	2.08063438
62	Abolished electroretinogram (ERG) (HP:0000550)	2.07505097
63	Optic disc pallor (HP:0000543)	2.06678993
64	Abnormal protein glycosylation (HP:0012346)	2.06487208
65	Abnormal glycosylation (HP:0012345)	2.06487208
66	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.06487208
67	Abnormal protein N-linked glycosylation (HP:0012347)	2.06487208
68	Increased corneal curvature (HP:0100692)	2.05698579
69	Keratoconus (HP:0000563)	2.05698579
70	Prostate neoplasm (HP:0100787)	2.04124797
71	Supernumerary spleens (HP:0009799)	2.02749677
72	Progressive sensorineural hearing impairment (HP:0000408)	2.00293156
73	Small intestinal stenosis (HP:0012848)	1.98994827
74	Duodenal stenosis (HP:0100867)	1.98994827
75	Horseshoe kidney (HP:0000085)	1.97125493
76	Median cleft lip (HP:0000161)	1.96575410
77	Exercise intolerance (HP:0003546)	1.95428218
78	Genital tract atresia (HP:0001827)	1.94150414
79	Type II lissencephaly (HP:0007260)	1.91805817
80	Nephrogenic diabetes insipidus (HP:0009806)	1.90589259
81	Increased hepatocellular lipid droplets (HP:0006565)	1.90115846
82	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.89416390
83	Stenosis of the external auditory canal (HP:0000402)	1.88989757
84	Abnormal number of erythroid precursors (HP:0012131)	1.87489567
85	Decreased central vision (HP:0007663)	1.86381716
86	Abnormality of the pons (HP:0007361)	1.85317810
87	Absent/shortened dynein arms (HP:0200106)	1.84286334
88	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.84286334
89	Short tibia (HP:0005736)	1.83988481
90	Attenuation of retinal blood vessels (HP:0007843)	1.83605306
91	Vaginal atresia (HP:0000148)	1.83392068
92	Ectopic kidney (HP:0000086)	1.83325566
93	Cleft eyelid (HP:0000625)	1.83067232
94	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.82386678
95	Abnormal respiratory motile cilium morphology (HP:0005938)	1.82105191
96	Abnormal respiratory epithelium morphology (HP:0012253)	1.82105191
97	11 pairs of ribs (HP:0000878)	1.81145326
98	Pendular nystagmus (HP:0012043)	1.80733187
99	Lethargy (HP:0001254)	1.79534692
100	Nephronophthisis (HP:0000090)	1.79385650

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	4.11059198
2	PBK	4.03390133
3	VRK2	3.06630422
4	FRK	2.92806911
5	TAF1	2.80671389
6	TLK1	2.66705927
7	TNIK	2.59645215
8	ADRBK2	2.40748855
9	BMPR1B	2.35154213
10	STK38L	2.32345739
11	GRK1	2.26967098
12	MAP4K2	2.23294737
13	MKNK1	2.16340198
14	CDC7	2.07038823
15	TYRO3	1.94851549
16	NME1	1.94641265
17	PLK4	1.91582101
18	NUAK1	1.90395489
19	BUB1	1.71862157
20	PASK	1.67524699
21	VRK1	1.67180477
22	PDK2	1.63077205
23	NTRK3	1.61911637
24	ZAK	1.50446281
25	DYRK2	1.44009317
26	BCKDK	1.43008633
27	MAPKAPK5	1.36959517
28	PINK1	1.34054141
29	CASK	1.23043831
30	SRPK1	1.22560141
31	CDK4	1.20700245
32	MKNK2	1.19774944
33	KIT	1.19346510
34	TGFBR1	1.18630357
35	RPS6KA4	1.14411914
36	WNK3	1.10990463
37	WNK4	1.09633011
38	EIF2AK3	1.04518565
39	WEE1	1.04353319
40	STK16	1.01383405
41	TIE1	0.97849364
42	FES	0.96542739
43	NME2	0.95996746
44	TXK	0.95760370
45	NEK1	0.92555997
46	PLK3	0.92410750
47	NLK	0.92054567
48	BRSK2	0.82042656
49	RPS6KA5	0.81990871
50	ACVR1B	0.75774042
51	CSNK1G1	0.72751450
52	CSNK1G3	0.71756153
53	CHEK2	0.71024081
54	ADRBK1	0.70782264
55	TAOK3	0.69457453
56	OXSR1	0.67632281
57	IKBKB	0.63725042
58	DYRK3	0.62614167
59	CDK8	0.62562027
60	PRKCG	0.61895204
61	CSNK1G2	0.60868043
62	PRKCE	0.59030234
63	TNK2	0.58843615
64	EIF2AK1	0.58297838
65	AURKB	0.56396555
66	MAP4K1	0.55212023
67	ATR	0.55112771
68	CSNK2A1	0.55076370
69	PHKG1	0.53670300
70	PHKG2	0.53670300
71	CSNK2A2	0.51510725
72	CSNK1A1L	0.51117289
73	CDK3	0.49661329
74	SYK	0.49057799
75	MAP3K10	0.46746102
76	STK3	0.46328833
77	STK39	0.45941733
78	CAMK1	0.45799887
79	PRKCQ	0.45189371
80	PLK1	0.44216564
81	CAMK2A	0.43391264
82	DAPK1	0.42804650
83	NTRK2	0.41582979
84	MAP3K8	0.39134753
85	MATK	0.39115167
86	PIK3CA	0.38579620
87	STK4	0.38431489
88	MYLK	0.38426103
89	CSNK1A1	0.37731282
90	IGF1R	0.36931068
91	ATM	0.36819434
92	TSSK6	0.34920982
93	PRKACA	0.34491217
94	FLT3	0.33804358
95	LRRK2	0.33340307
96	PAK3	0.32851500
97	ERBB2	0.32028606
98	MAPK13	0.30654679
99	PTK2B	0.30385881
100	MAP3K12	0.30174623

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ribosome_Homo sapiens_hsa03010	4.30173826
2	One carbon pool by folate_Homo sapiens_hsa00670	3.20263680
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.13270083
4	Proteasome_Homo sapiens_hsa03050	2.70959118
5	Homologous recombination_Homo sapiens_hsa03440	2.57114162
6	Parkinsons disease_Homo sapiens_hsa05012	2.40544979
7	RNA polymerase_Homo sapiens_hsa03020	2.36934203
8	DNA replication_Homo sapiens_hsa03030	2.33877855
9	Basal transcription factors_Homo sapiens_hsa03022	2.30087490
10	Protein export_Homo sapiens_hsa03060	2.26029299
11	Nucleotide excision repair_Homo sapiens_hsa03420	2.20814490
12	Mismatch repair_Homo sapiens_hsa03430	2.10154199
13	Asthma_Homo sapiens_hsa05310	1.95173424
14	Fanconi anemia pathway_Homo sapiens_hsa03460	1.84814237
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.80404137
16	Huntingtons disease_Homo sapiens_hsa05016	1.77686683
17	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.68334463
18	Cardiac muscle contraction_Homo sapiens_hsa04260	1.67831413
19	Linoleic acid metabolism_Homo sapiens_hsa00591	1.52303935
20	Alzheimers disease_Homo sapiens_hsa05010	1.52060904
21	Base excision repair_Homo sapiens_hsa03410	1.44878849
22	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.43720587
23	Propanoate metabolism_Homo sapiens_hsa00640	1.43633898
24	Pyrimidine metabolism_Homo sapiens_hsa00240	1.43245223
25	Allograft rejection_Homo sapiens_hsa05330	1.37777288
26	RNA transport_Homo sapiens_hsa03013	1.37327451
27	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.36968232
28	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.32110861
29	RNA degradation_Homo sapiens_hsa03018	1.31570489
30	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.26957820
31	Tryptophan metabolism_Homo sapiens_hsa00380	1.21205523
32	Peroxisome_Homo sapiens_hsa04146	1.18647321
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.16295342
34	Purine metabolism_Homo sapiens_hsa00230	1.15110198
35	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.14426715
36	Steroid biosynthesis_Homo sapiens_hsa00100	1.14360710
37	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.13570356
38	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.10127297
39	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.08358673
40	Spliceosome_Homo sapiens_hsa03040	1.07836962
41	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.04335368
42	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.02912366
43	Chemical carcinogenesis_Homo sapiens_hsa05204	1.02809617
44	Caffeine metabolism_Homo sapiens_hsa00232	1.02170837
45	Selenocompound metabolism_Homo sapiens_hsa00450	1.01859405
46	Pyruvate metabolism_Homo sapiens_hsa00620	0.99087198
47	Nitrogen metabolism_Homo sapiens_hsa00910	0.97895416
48	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.95458633
49	Butanoate metabolism_Homo sapiens_hsa00650	0.95144650
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.92972947
51	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.92062866
52	Glutathione metabolism_Homo sapiens_hsa00480	0.90667622
53	Collecting duct acid secretion_Homo sapiens_hsa04966	0.88710428
54	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.87661801
55	Regulation of autophagy_Homo sapiens_hsa04140	0.87572240
56	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.87361912
57	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.85869695
58	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.85671530
59	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.85499454
60	Folate biosynthesis_Homo sapiens_hsa00790	0.85299531
61	Phototransduction_Homo sapiens_hsa04744	0.85032917
62	Fatty acid elongation_Homo sapiens_hsa00062	0.84586718
63	Olfactory transduction_Homo sapiens_hsa04740	0.81127166
64	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.80810604
65	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.80589284
66	Retinol metabolism_Homo sapiens_hsa00830	0.78633488
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.78334541
68	Graft-versus-host disease_Homo sapiens_hsa05332	0.76659103
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.73143267
70	Ether lipid metabolism_Homo sapiens_hsa00565	0.72999953
71	Type I diabetes mellitus_Homo sapiens_hsa04940	0.72335559
72	Sulfur metabolism_Homo sapiens_hsa00920	0.72016693
73	Non-homologous end-joining_Homo sapiens_hsa03450	0.70531563
74	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.70397588
75	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.65934552
76	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.65002620
77	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.64940855
78	Metabolic pathways_Homo sapiens_hsa01100	0.64429360
79	beta-Alanine metabolism_Homo sapiens_hsa00410	0.58444618
80	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.56965064
81	Taste transduction_Homo sapiens_hsa04742	0.56025722
82	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.54742169
83	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.54362451
84	Glycerolipid metabolism_Homo sapiens_hsa00561	0.53297149
85	Histidine metabolism_Homo sapiens_hsa00340	0.53010192
86	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.52729016
87	Fat digestion and absorption_Homo sapiens_hsa04975	0.50400843
88	Rheumatoid arthritis_Homo sapiens_hsa05323	0.47511322
89	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.46765017
90	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.42665525
91	Nicotine addiction_Homo sapiens_hsa05033	0.41777114
92	Fatty acid metabolism_Homo sapiens_hsa01212	0.40672781
93	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.38757367
94	Fatty acid degradation_Homo sapiens_hsa00071	0.37277297
95	Arginine and proline metabolism_Homo sapiens_hsa00330	0.37198471
96	Primary immunodeficiency_Homo sapiens_hsa05340	0.35766249
97	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.32440785
98	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.31332553
99	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.30125447
100	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.28209411

RPS3AP54

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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