ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	kinetochore assembly (GO:0051382)	4.46886827
2	endoderm formation (GO:0001706)	4.22917138
3	protein neddylation (GO:0045116)	4.13102865
4	chromatin remodeling at centromere (GO:0031055)	4.10824429
5	replication fork processing (GO:0031297)	4.06045818
6	regulation of mesoderm development (GO:2000380)	4.05872704
7	kinetochore organization (GO:0051383)	4.01528667
8	CENP-A containing nucleosome assembly (GO:0034080)	3.95318609
9	regulation of mitotic spindle checkpoint (GO:1903504)	3.94837208
10	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.94837208
11	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.91470283
12	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	3.82216979
13	isotype switching (GO:0045190)	3.82216979
14	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	3.82216979
15	axonemal dynein complex assembly (GO:0070286)	3.76214787
16	DNA double-strand break processing (GO:0000729)	3.73795389
17	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.70461218
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.68119974
19	histone exchange (GO:0043486)	3.57573843
20	anterior/posterior axis specification, embryo (GO:0008595)	3.54927452
21	intraciliary transport (GO:0042073)	3.49862641
22	DNA replication-dependent nucleosome organization (GO:0034723)	3.40473303
23	DNA replication-dependent nucleosome assembly (GO:0006335)	3.40473303
24	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.37784422
25	centriole replication (GO:0007099)	3.35028122
26	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	3.33414523
27	cilium movement (GO:0003341)	3.28221643
28	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.27978028
29	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.27978028
30	somite rostral/caudal axis specification (GO:0032525)	3.27015706
31	cilium or flagellum-dependent cell motility (GO:0001539)	3.24280517
32	epithelial cilium movement (GO:0003351)	3.23298716
33	otic vesicle formation (GO:0030916)	3.22355609
34	regulation of cilium movement (GO:0003352)	3.20496522
35	cullin deneddylation (GO:0010388)	3.15598407
36	negative regulation of activin receptor signaling pathway (GO:0032926)	3.14447187
37	regulation of centriole replication (GO:0046599)	3.12194297
38	recombinational repair (GO:0000725)	3.11741375
39	double-strand break repair via homologous recombination (GO:0000724)	3.11716275
40	protein deneddylation (GO:0000338)	3.07577259
41	platelet dense granule organization (GO:0060155)	3.05474485
42	kidney morphogenesis (GO:0060993)	3.00774691
43	reciprocal meiotic recombination (GO:0007131)	2.98755009
44	reciprocal DNA recombination (GO:0035825)	2.98755009
45	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.95443341
46	axoneme assembly (GO:0035082)	2.94864301
47	DNA replication checkpoint (GO:0000076)	2.94094170
48	proteasome assembly (GO:0043248)	2.93424929
49	DNA replication-independent nucleosome assembly (GO:0006336)	2.91703725
50	DNA replication-independent nucleosome organization (GO:0034724)	2.91703725
51	primitive streak formation (GO:0090009)	2.90343945
52	regulation of telomere maintenance via telomerase (GO:0032210)	2.90281070
53	DNA deamination (GO:0045006)	2.89775338
54	somatic recombination of immunoglobulin gene segments (GO:0016447)	2.88970443
55	water-soluble vitamin biosynthetic process (GO:0042364)	2.88913502
56	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.88796053
57	chaperone-mediated protein transport (GO:0072321)	2.83032519
58	peptidyl-histidine modification (GO:0018202)	2.82493834
59	postreplication repair (GO:0006301)	2.82402913
60	histone mRNA metabolic process (GO:0008334)	2.82083479
61	base-excision repair, AP site formation (GO:0006285)	2.79929520
62	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.78794995
63	branched-chain amino acid catabolic process (GO:0009083)	2.77885333
64	mitotic G2/M transition checkpoint (GO:0044818)	2.74026482
65	negative regulation of DNA recombination (GO:0045910)	2.71495699
66	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.71319917
67	somatic diversification of immunoglobulins (GO:0016445)	2.70775092
68	lysine metabolic process (GO:0006553)	2.69579456
69	lysine catabolic process (GO:0006554)	2.69579456
70	embryonic axis specification (GO:0000578)	2.68578821
71	L-fucose catabolic process (GO:0042355)	2.66750176
72	fucose catabolic process (GO:0019317)	2.66750176
73	L-fucose metabolic process (GO:0042354)	2.66750176
74	glyoxylate metabolic process (GO:0046487)	2.66371942
75	cilium organization (GO:0044782)	2.66265295
76	cell migration involved in gastrulation (GO:0042074)	2.65019532
77	resolution of meiotic recombination intermediates (GO:0000712)	2.64225108
78	nephron tubule morphogenesis (GO:0072078)	2.63679521
79	nephron epithelium morphogenesis (GO:0072088)	2.63679521
80	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.63442653
81	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.61445226
82	negative regulation of telomere maintenance (GO:0032205)	2.61059508
83	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.60793739
84	pericardium development (GO:0060039)	2.60421139
85	respiratory chain complex IV assembly (GO:0008535)	2.59741167
86	female gonad development (GO:0008585)	2.58371253
87	cilium morphogenesis (GO:0060271)	2.57465990
88	embryonic pattern specification (GO:0009880)	2.57249522
89	DNA ligation (GO:0006266)	2.55827807
90	cilium assembly (GO:0042384)	2.55447853
91	DNA strand renaturation (GO:0000733)	2.55247431
92	synapsis (GO:0007129)	2.54528127
93	pyrimidine nucleotide catabolic process (GO:0006244)	2.54461375
94	centrosome organization (GO:0051297)	2.54267477
95	anterior/posterior axis specification (GO:0009948)	2.54146150
96	nucleobase biosynthetic process (GO:0046112)	2.54004396
97	ncRNA catabolic process (GO:0034661)	2.53819159
98	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.53372423
99	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.53372423
100	purine nucleobase biosynthetic process (GO:0009113)	2.53006182

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.06801677
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.17068325
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.96113788
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.95951885
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.90974073
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.86072729
7	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.67863043
8	VDR_22108803_ChIP-Seq_LS180_Human	2.53538252
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.50802915
10	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.42318965
11	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.38632964
12	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.34436918
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.32832899
14	E2F7_22180533_ChIP-Seq_HELA_Human	2.30949964
15	EWS_26573619_Chip-Seq_HEK293_Human	2.26582555
16	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.17191558
17	FUS_26573619_Chip-Seq_HEK293_Human	2.16995084
18	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.10119921
19	P300_19829295_ChIP-Seq_ESCs_Human	2.09596546
20	ELK1_19687146_ChIP-ChIP_HELA_Human	2.02634862
21	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.99983072
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.92154763
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.84366581
24	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.82693777
25	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.81587219
26	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.75991520
27	VDR_23849224_ChIP-Seq_CD4+_Human	1.71719535
28	IGF1R_20145208_ChIP-Seq_DFB_Human	1.69635822
29	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.68843739
30	MYC_18940864_ChIP-ChIP_HL60_Human	1.68702188
31	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.68591466
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.68432495
33	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.64744708
34	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.60040183
35	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.59519917
36	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.57151560
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.54492297
38	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.52611014
39	BCAT_22108803_ChIP-Seq_LS180_Human	1.49784812
40	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.47631795
41	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.47138564
42	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.46725824
43	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.45628131
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.45206261
45	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.44940243
46	IRF1_19129219_ChIP-ChIP_H3396_Human	1.42499197
47	FOXP3_21729870_ChIP-Seq_TREG_Human	1.40815198
48	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.40001844
49	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.38966108
50	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.38700038
51	NANOG_16153702_ChIP-ChIP_HESCs_Human	1.36979397
52	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.35639833
53	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.35098733
54	TCF4_22108803_ChIP-Seq_LS180_Human	1.34224742
55	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.33643262
56	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.33283655
57	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.29707692
58	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.28801606
59	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.28450509
60	TP53_22573176_ChIP-Seq_HFKS_Human	1.27466431
61	NANOG_19829295_ChIP-Seq_ESCs_Human	1.23908459
62	SOX2_19829295_ChIP-Seq_ESCs_Human	1.23908459
63	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.21353295
64	ER_23166858_ChIP-Seq_MCF-7_Human	1.19336951
65	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.18336732
66	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.17209059
67	CBP_20019798_ChIP-Seq_JUKART_Human	1.14422680
68	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.14422680
69	SMAD4_21799915_ChIP-Seq_A2780_Human	1.14283429
70	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.12768186
71	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.12372786
72	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11289955
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10505672
74	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.10213147
75	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.05151569
76	EZH2_22144423_ChIP-Seq_EOC_Human	1.04962889
77	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04508691
78	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04035256
79	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.03490320
80	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.02782072
81	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.02264687
82	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.01165070
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.00446188
84	STAT3_23295773_ChIP-Seq_U87_Human	0.99379283
85	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.98568544
86	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.98483868
87	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.97527460
88	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.97462825
89	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.97462825
90	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.97138416
91	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.96969975
92	GABP_19822575_ChIP-Seq_HepG2_Human	0.95925885
93	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95888268
94	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.95604657
95	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.95604657
96	E2F1_21310950_ChIP-Seq_MCF-7_Human	0.95356224
97	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.95323162
98	TCF4_23295773_ChIP-Seq_U87_Human	0.94880697
99	EOMES_21245162_ChIP-Seq_HESCs_Human	0.94780840
100	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.94315428

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003890_abnormal_embryonic-extraembry	5.18354773
2	MP0006292_abnormal_olfactory_placode	4.60179225
3	MP0003136_yellow_coat_color	2.72141734
4	MP0010094_abnormal_chromosome_stability	2.52022090
5	MP0001293_anophthalmia	2.41375527
6	MP0003119_abnormal_digestive_system	2.38268199
7	MP0005075_abnormal_melanosome_morpholog	2.37068187
8	MP0004133_heterotaxia	2.36385886
9	MP0006072_abnormal_retinal_apoptosis	2.23669156
10	MP0000372_irregular_coat_pigmentation	2.21016137
11	MP0008877_abnormal_DNA_methylation	2.16937385
12	MP0001529_abnormal_vocalization	2.12934680
13	MP0003195_calcinosis	2.01915026
14	MP0008058_abnormal_DNA_repair	1.99927398
15	MP0002736_abnormal_nociception_after	1.99256773
16	MP0002102_abnormal_ear_morphology	1.98586021
17	MP0005499_abnormal_olfactory_system	1.97648670
18	MP0005394_taste/olfaction_phenotype	1.97648670
19	MP0002938_white_spotting	1.96370296
20	MP0001984_abnormal_olfaction	1.91779801
21	MP0005174_abnormal_tail_pigmentation	1.86556866
22	MP0003567_abnormal_fetal_cardiomyocyte	1.85387215
23	MP0003937_abnormal_limbs/digits/tail_de	1.81627846
24	MP0002233_abnormal_nose_morphology	1.78822689
25	MP0006054_spinal_hemorrhage	1.76643582
26	MP0008789_abnormal_olfactory_epithelium	1.74274134
27	MP0004147_increased_porphyrin_level	1.66264654
28	MP0003787_abnormal_imprinting	1.65186025
29	MP0005551_abnormal_eye_electrophysiolog	1.60867925
30	MP0003941_abnormal_skin_development	1.57872782
31	MP0004264_abnormal_extraembryonic_tissu	1.53855048
32	MP0002277_abnormal_respiratory_mucosa	1.52110122
33	MP0008872_abnormal_physiological_respon	1.50391847
34	MP0002095_abnormal_skin_pigmentation	1.46534213
35	MP0002837_dystrophic_cardiac_calcinosis	1.40812292
36	MP0001968_abnormal_touch/_nociception	1.37924191
37	MP0008932_abnormal_embryonic_tissue	1.35073564
38	MP0003880_abnormal_central_pattern	1.30160097
39	MP0003122_maternal_imprinting	1.29535852
40	MP0003718_maternal_effect	1.26132729
41	MP0005084_abnormal_gallbladder_morpholo	1.25014818
42	MP0005253_abnormal_eye_physiology	1.23303111
43	MP0003121_genomic_imprinting	1.22766033
44	MP0000049_abnormal_middle_ear	1.22641864
45	MP0001286_abnormal_eye_development	1.21693134
46	MP0010030_abnormal_orbit_morphology	1.21215628
47	MP0001188_hyperpigmentation	1.20419697
48	MP0002234_abnormal_pharynx_morphology	1.20296489
49	MP0003693_abnormal_embryo_hatching	1.17122484
50	MP0003111_abnormal_nucleus_morphology	1.14301738
51	MP0004957_abnormal_blastocyst_morpholog	1.08288412
52	MP0008995_early_reproductive_senescence	1.07745465
53	MP0002638_abnormal_pupillary_reflex	1.06987561
54	MP0003186_abnormal_redox_activity	1.06711762
55	MP0002111_abnormal_tail_morphology	1.06503933
56	MP0002084_abnormal_developmental_patter	1.04199929
57	MP0002090_abnormal_vision	1.03722876
58	MP0001986_abnormal_taste_sensitivity	1.02428257
59	MP0000631_abnormal_neuroendocrine_gland	1.00416233
60	MP0003077_abnormal_cell_cycle	0.97318333
61	MP0003137_abnormal_impulse_conducting	0.96537721
62	MP0004145_abnormal_muscle_electrophysio	0.96435172
63	MP0001485_abnormal_pinna_reflex	0.96080585
64	MP0002160_abnormal_reproductive_system	0.93006301
65	MP0003385_abnormal_body_wall	0.92962964
66	MP0004142_abnormal_muscle_tone	0.92525862
67	MP0005195_abnormal_posterior_eye	0.92296472
68	MP0004215_abnormal_myocardial_fiber	0.92076685
69	MP0009697_abnormal_copulation	0.91984472
70	MP0001929_abnormal_gametogenesis	0.91602374
71	MP0002751_abnormal_autonomic_nervous	0.90555154
72	MP0003938_abnormal_ear_development	0.90528717
73	MP0002210_abnormal_sex_determination	0.88945589
74	MP0001486_abnormal_startle_reflex	0.88010046
75	MP0000427_abnormal_hair_cycle	0.87582927
76	MP0005391_vision/eye_phenotype	0.87100251
77	MP0005367_renal/urinary_system_phenotyp	0.86995182
78	MP0000516_abnormal_urinary_system	0.86995182
79	MP0005380_embryogenesis_phenotype	0.86951354
80	MP0001672_abnormal_embryogenesis/_devel	0.86951354
81	MP0000015_abnormal_ear_pigmentation	0.86505783
82	MP0001324_abnormal_eye_pigmentation	0.85374831
83	MP0005248_abnormal_Harderian_gland	0.82174935
84	MP0004885_abnormal_endolymph	0.81824495
85	MP0000371_diluted_coat_color	0.80643533
86	MP0008004_abnormal_stomach_pH	0.80466908
87	MP0000428_abnormal_craniofacial_morphol	0.80161997
88	MP0002752_abnormal_somatic_nervous	0.79758172
89	MP0003646_muscle_fatigue	0.78114262
90	MP0000653_abnormal_sex_gland	0.77421560
91	MP0002109_abnormal_limb_morphology	0.77320186
92	MP0001119_abnormal_female_reproductive	0.76912810
93	MP0001963_abnormal_hearing_physiology	0.76633730
94	MP0000569_abnormal_digit_pigmentation	0.74709365
95	MP0002282_abnormal_trachea_morphology	0.73384172
96	MP0003698_abnormal_male_reproductive	0.73042763
97	MP0000647_abnormal_sebaceous_gland	0.72356394
98	MP0001145_abnormal_male_reproductive	0.71783028
99	MP0002557_abnormal_social/conspecific_i	0.71095558
100	MP0000026_abnormal_inner_ear	0.70913276

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Septo-optic dysplasia (HP:0100842)	3.88573324
2	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.44487328
3	Colon cancer (HP:0003003)	3.42745228
4	Pancreatic fibrosis (HP:0100732)	3.38713128
5	Molar tooth sign on MRI (HP:0002419)	3.35433861
6	Abnormality of midbrain morphology (HP:0002418)	3.35433861
7	Pancreatic cysts (HP:0001737)	3.34444516
8	Abnormal respiratory motile cilium physiology (HP:0012261)	3.27295248
9	Absent/shortened dynein arms (HP:0200106)	3.24547178
10	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.24547178
11	Abnormal respiratory motile cilium morphology (HP:0005938)	3.22921186
12	Abnormal respiratory epithelium morphology (HP:0012253)	3.22921186
13	Abnormal ciliary motility (HP:0012262)	3.15103348
14	True hermaphroditism (HP:0010459)	3.03121503
15	Volvulus (HP:0002580)	2.89687359
16	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.85814770
17	Nephronophthisis (HP:0000090)	2.82092987
18	Chronic hepatic failure (HP:0100626)	2.78236860
19	Abnormality of the ileum (HP:0001549)	2.74923694
20	Medial flaring of the eyebrow (HP:0010747)	2.74745706
21	Meckel diverticulum (HP:0002245)	2.69743124
22	Bifid tongue (HP:0010297)	2.66112690
23	Rhinitis (HP:0012384)	2.64002900
24	Abnormality of chromosome stability (HP:0003220)	2.62931534
25	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.62779555
26	Abnormality of the labia minora (HP:0012880)	2.57906015
27	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.54721856
28	Abolished electroretinogram (ERG) (HP:0000550)	2.52355146
29	Intestinal atresia (HP:0011100)	2.50853790
30	Chromsome breakage (HP:0040012)	2.49323426
31	Hyperglycinemia (HP:0002154)	2.47018848
32	Genital tract atresia (HP:0001827)	2.44931658
33	Optic nerve hypoplasia (HP:0000609)	2.44421008
34	Progressive inability to walk (HP:0002505)	2.43381463
35	Vaginal atresia (HP:0000148)	2.42688926
36	Supernumerary spleens (HP:0009799)	2.41400500
37	Congenital primary aphakia (HP:0007707)	2.37232928
38	Abnormality of the renal medulla (HP:0100957)	2.35832319
39	Anencephaly (HP:0002323)	2.30126803
40	Gait imbalance (HP:0002141)	2.29586968
41	Bile duct proliferation (HP:0001408)	2.24621881
42	Abnormal biliary tract physiology (HP:0012439)	2.24621881
43	Asplenia (HP:0001746)	2.22639187
44	Triphalangeal thumb (HP:0001199)	2.22315030
45	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.21591839
46	Abnormality of alanine metabolism (HP:0010916)	2.21591839
47	Hyperalaninemia (HP:0003348)	2.21591839
48	Postaxial foot polydactyly (HP:0001830)	2.19579368
49	Absent septum pellucidum (HP:0001331)	2.18352381
50	Absent radius (HP:0003974)	2.15382412
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.14441852
52	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.13838197
53	Abnormality of the preputium (HP:0100587)	2.13422370
54	Nephrogenic diabetes insipidus (HP:0009806)	2.11865108
55	Reticulocytopenia (HP:0001896)	2.11456975
56	Abnormal lung lobation (HP:0002101)	2.11072836
57	Chronic bronchitis (HP:0004469)	2.10944927
58	Cystic liver disease (HP:0006706)	2.08790268
59	Methylmalonic acidemia (HP:0002912)	2.06006554
60	Absent forearm bone (HP:0003953)	2.04545045
61	Aplasia involving forearm bones (HP:0009822)	2.04545045
62	Abnormality of serum amino acid levels (HP:0003112)	2.04399169
63	Clubbing of toes (HP:0100760)	2.03989436
64	Double outlet right ventricle (HP:0001719)	2.02770568
65	Congenital malformation of the right heart (HP:0011723)	2.02770568
66	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.02622420
67	Abnormal hair whorl (HP:0010721)	2.01766348
68	Enlarged kidneys (HP:0000105)	2.01117577
69	Sloping forehead (HP:0000340)	1.99661369
70	Preaxial hand polydactyly (HP:0001177)	1.99609017
71	Congenital hepatic fibrosis (HP:0002612)	1.99318030
72	Abnormality of the renal cortex (HP:0011035)	1.99119192
73	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.98882552
74	Anophthalmia (HP:0000528)	1.96446424
75	Hyperglycinuria (HP:0003108)	1.96245986
76	Sclerocornea (HP:0000647)	1.93079146
77	Growth hormone deficiency (HP:0000824)	1.90336798
78	Inability to walk (HP:0002540)	1.87993673
79	Oligodactyly (hands) (HP:0001180)	1.84617248
80	Abnormal pancreas size (HP:0012094)	1.83005748
81	Duodenal stenosis (HP:0100867)	1.81588010
82	Small intestinal stenosis (HP:0012848)	1.81588010
83	Abnormality of the parathyroid morphology (HP:0011766)	1.81318912
84	Maternal diabetes (HP:0009800)	1.80527667
85	Abnormality of glycine metabolism (HP:0010895)	1.80523126
86	Abnormality of serine family amino acid metabolism (HP:0010894)	1.80523126
87	Hypoplastic pelvis (HP:0008839)	1.80048103
88	Abnormality of the duodenum (HP:0002246)	1.80037715
89	Abnormality of the septum pellucidum (HP:0007375)	1.79145107
90	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.78865572
91	Postaxial hand polydactyly (HP:0001162)	1.77770009
92	Labial hypoplasia (HP:0000066)	1.75767094
93	Oligohydramnios (HP:0001562)	1.75573937
94	Disproportionate short-trunk short stature (HP:0003521)	1.75211707
95	Broad foot (HP:0001769)	1.75015178
96	Occipital encephalocele (HP:0002085)	1.74141858
97	Median cleft lip (HP:0000161)	1.73817078
98	Dandy-Walker malformation (HP:0001305)	1.73499073
99	Poor coordination (HP:0002370)	1.73454562
100	Bronchiectasis (HP:0002110)	1.71861375

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	4.15907985
2	ACVR1B	3.57198181
3	BMPR1B	3.56903947
4	MAP4K2	3.27046995
5	PBK	3.07307091
6	TNIK	2.99434521
7	WNK3	2.73699191
8	MKNK2	2.54776565
9	PLK4	2.54452047
10	TRIM28	2.47388018
11	FRK	2.38976451
12	ERBB4	2.30349952
13	ZAK	2.29460326
14	MST4	2.22788524
15	PDK2	2.05088556
16	NUAK1	2.01459374
17	NME1	1.95852453
18	MKNK1	1.85853842
19	EIF2AK3	1.78728525
20	CDC7	1.67432373
21	GRK1	1.59354351
22	WEE1	1.53665968
23	FLT3	1.46473374
24	SRPK1	1.44118764
25	ADRBK2	1.41997906
26	TGFBR1	1.35762881
27	PLK3	1.34191737
28	NEK1	1.29548853
29	PKN2	1.26265902
30	BCKDK	1.20734539
31	PINK1	1.20047809
32	TSSK6	1.19892608
33	WNK4	1.19586129
34	STK16	1.16869327
35	BUB1	1.16368376
36	PNCK	1.13587372
37	TTK	1.12501514
38	TNK2	1.07721279
39	BCR	1.06592240
40	INSRR	1.03596238
41	OBSCN	1.00412922
42	PLK2	0.96336659
43	CDK19	0.95929862
44	VRK1	0.95754016
45	PLK1	0.94447954
46	ERBB3	0.93250718
47	TIE1	0.92454908
48	NEK2	0.90225770
49	FGFR1	0.84891415
50	NLK	0.84056395
51	VRK2	0.80743979
52	DYRK2	0.79729741
53	STK3	0.78455198
54	ATR	0.76586495
55	CDK8	0.75504634
56	MAP3K4	0.72594739
57	BRSK2	0.71211346
58	EIF2AK2	0.70543993
59	CSNK1G1	0.67671238
60	KIT	0.64618562
61	ADRBK1	0.64520772
62	TEC	0.63573096
63	OXSR1	0.63115747
64	CHEK2	0.57954747
65	PRKCG	0.57643846
66	MAPK13	0.57590468
67	LATS1	0.57532120
68	STK38L	0.56661371
69	NTRK2	0.56009226
70	CASK	0.55090535
71	ATM	0.51422127
72	PIK3CA	0.50859900
73	TXK	0.50590191
74	STK39	0.45136545
75	AURKB	0.41746042
76	EPHA4	0.40446001
77	MAP2K7	0.40003132
78	PRKCE	0.39924685
79	EIF2AK1	0.39225806
80	PRKCQ	0.38947486
81	MAP2K6	0.38569651
82	CSNK1G2	0.36052337
83	PAK3	0.33876943
84	CSNK1G3	0.32896140
85	CSNK1A1	0.32097843
86	MATK	0.31871502
87	CHEK1	0.31441897
88	CSNK2A1	0.31068027
89	TLK1	0.30962398
90	STK11	0.30785801
91	PRKDC	0.28720436
92	MAP2K4	0.27481046
93	MAPK15	0.27222875
94	CSNK2A2	0.27113857
95	MELK	0.27031920
96	CSNK1A1L	0.24518951
97	IGF1R	0.24298224
98	MINK1	0.23857650
99	CSNK1D	0.23205643
100	CDK3	0.23132530

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Homologous recombination_Homo sapiens_hsa03440	3.30847610
2	Fanconi anemia pathway_Homo sapiens_hsa03460	2.57101028
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.51296130
4	Mismatch repair_Homo sapiens_hsa03430	2.49380488
5	Propanoate metabolism_Homo sapiens_hsa00640	2.47081759
6	Proteasome_Homo sapiens_hsa03050	2.43750849
7	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.37630422
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.22131043
9	DNA replication_Homo sapiens_hsa03030	2.06824484
10	Non-homologous end-joining_Homo sapiens_hsa03450	2.06655600
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.06084607
12	Protein export_Homo sapiens_hsa03060	2.03755605
13	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.02979908
14	RNA polymerase_Homo sapiens_hsa03020	2.02170869
15	RNA degradation_Homo sapiens_hsa03018	2.01234081
16	Basal transcription factors_Homo sapiens_hsa03022	2.00584281
17	Steroid biosynthesis_Homo sapiens_hsa00100	1.98425957
18	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.92884504
19	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.82930896
20	Butanoate metabolism_Homo sapiens_hsa00650	1.80272207
21	Pyruvate metabolism_Homo sapiens_hsa00620	1.70831582
22	Peroxisome_Homo sapiens_hsa04146	1.62621311
23	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.57982331
24	Fatty acid degradation_Homo sapiens_hsa00071	1.53752412
25	Oxidative phosphorylation_Homo sapiens_hsa00190	1.52099832
26	Phototransduction_Homo sapiens_hsa04744	1.49118535
27	Nucleotide excision repair_Homo sapiens_hsa03420	1.43580116
28	Ribosome_Homo sapiens_hsa03010	1.42958267
29	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.39835933
30	Parkinsons disease_Homo sapiens_hsa05012	1.39802119
31	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.39124366
32	Base excision repair_Homo sapiens_hsa03410	1.38060731
33	Tryptophan metabolism_Homo sapiens_hsa00380	1.33667819
34	RNA transport_Homo sapiens_hsa03013	1.32523384
35	Huntingtons disease_Homo sapiens_hsa05016	1.31362581
36	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.30461236
37	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.29037769
38	Fatty acid metabolism_Homo sapiens_hsa01212	1.27641053
39	Fatty acid elongation_Homo sapiens_hsa00062	1.26107795
40	One carbon pool by folate_Homo sapiens_hsa00670	1.18466668
41	Spliceosome_Homo sapiens_hsa03040	1.18135160
42	Nitrogen metabolism_Homo sapiens_hsa00910	1.18053099
43	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.17956993
44	Selenocompound metabolism_Homo sapiens_hsa00450	1.08690064
45	Basal cell carcinoma_Homo sapiens_hsa05217	1.07455852
46	beta-Alanine metabolism_Homo sapiens_hsa00410	1.05629121
47	Pyrimidine metabolism_Homo sapiens_hsa00240	1.03061170
48	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.01980878
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01975604
50	Chemical carcinogenesis_Homo sapiens_hsa05204	0.99472382
51	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.99192188
52	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.98870624
53	Caffeine metabolism_Homo sapiens_hsa00232	0.98870126
54	Olfactory transduction_Homo sapiens_hsa04740	0.96771694
55	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.96165085
56	Purine metabolism_Homo sapiens_hsa00230	0.94049639
57	Retinol metabolism_Homo sapiens_hsa00830	0.92207281
58	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.91525083
59	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.88484410
60	Fat digestion and absorption_Homo sapiens_hsa04975	0.86140064
61	Glutathione metabolism_Homo sapiens_hsa00480	0.85616778
62	Linoleic acid metabolism_Homo sapiens_hsa00591	0.84604161
63	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.82813519
64	Cell cycle_Homo sapiens_hsa04110	0.79961439
65	Metabolic pathways_Homo sapiens_hsa01100	0.73508672
66	Lysine degradation_Homo sapiens_hsa00310	0.72317151
67	Alzheimers disease_Homo sapiens_hsa05010	0.70657486
68	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.70200852
69	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.66743992
70	Glycerolipid metabolism_Homo sapiens_hsa00561	0.65785135
71	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.65587026
72	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.65539611
73	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.65012103
74	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.64853111
75	Wnt signaling pathway_Homo sapiens_hsa04310	0.61658472
76	Carbon metabolism_Homo sapiens_hsa01200	0.61645825
77	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.61049369
78	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.61024191
79	Cardiac muscle contraction_Homo sapiens_hsa04260	0.58153219
80	Nicotine addiction_Homo sapiens_hsa05033	0.57304082
81	Ether lipid metabolism_Homo sapiens_hsa00565	0.55055050
82	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.54704422
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.53402194
84	Hippo signaling pathway_Homo sapiens_hsa04390	0.52811036
85	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.52081945
86	p53 signaling pathway_Homo sapiens_hsa04115	0.48726905
87	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.48185828
88	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.46698268
89	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.46364463
90	Histidine metabolism_Homo sapiens_hsa00340	0.46343960
91	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.40691613
92	Arginine and proline metabolism_Homo sapiens_hsa00330	0.40444641
93	Taste transduction_Homo sapiens_hsa04742	0.40204784
94	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.39730118
95	Oocyte meiosis_Homo sapiens_hsa04114	0.38712330
96	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.37973127
97	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.37275445
98	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.35166597
99	mRNA surveillance pathway_Homo sapiens_hsa03015	0.34313310
100	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.34247803

RPS3AP34

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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