ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sperm motility (GO:0030317)	6.43361474
2	acrosome reaction (GO:0007340)	6.39504286
3	multicellular organism reproduction (GO:0032504)	5.59438704
4	rRNA catabolic process (GO:0016075)	5.11802640
5	spermatid nucleus differentiation (GO:0007289)	4.98956689
6	protein localization to cilium (GO:0061512)	4.89889173
7	spermatid development (GO:0007286)	4.78438297
8	single strand break repair (GO:0000012)	4.74010341
9	fusion of sperm to egg plasma membrane (GO:0007342)	4.70896332
10	phosphatidylethanolamine biosynthetic process (GO:0006646)	4.62020482
11	sperm-egg recognition (GO:0035036)	4.54492468
12	cellular ketone body metabolic process (GO:0046950)	4.51256626
13	phosphatidylethanolamine metabolic process (GO:0046337)	4.39496229
14	response to pheromone (GO:0019236)	4.36098660
15	DNA double-strand break processing (GO:0000729)	4.34442324
16	coenzyme catabolic process (GO:0009109)	4.27811784
17	reproduction (GO:0000003)	4.23168105
18	epithelial cilium movement (GO:0003351)	4.21689461
19	protein targeting to Golgi (GO:0000042)	4.19327821
20	rRNA methylation (GO:0031167)	4.18643471
21	cellular response to ATP (GO:0071318)	4.13448968
22	establishment of protein localization to Golgi (GO:0072600)	4.07428743
23	motile cilium assembly (GO:0044458)	4.05317069
24	fucose catabolic process (GO:0019317)	4.04356172
25	L-fucose metabolic process (GO:0042354)	4.04356172
26	L-fucose catabolic process (GO:0042355)	4.04356172
27	mannosylation (GO:0097502)	4.03466805
28	cell-cell recognition (GO:0009988)	3.96447565
29	cell wall macromolecule catabolic process (GO:0016998)	3.94104625
30	ketone body metabolic process (GO:1902224)	3.92721828
31	regulation of phosphoprotein phosphatase activity (GO:0043666)	3.92311714
32	male meiosis (GO:0007140)	3.89649852
33	binding of sperm to zona pellucida (GO:0007339)	3.84418048
34	plasma membrane fusion (GO:0045026)	3.81431765
35	protein localization to Golgi apparatus (GO:0034067)	3.79563715
36	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.75117016
37	regulation of autophagic vacuole assembly (GO:2000785)	3.70473571
38	single fertilization (GO:0007338)	3.69516932
39	axonemal dynein complex assembly (GO:0070286)	3.69305877
40	receptor guanylyl cyclase signaling pathway (GO:0007168)	3.66419397
41	rRNA modification (GO:0000154)	3.65947637
42	cell wall macromolecule metabolic process (GO:0044036)	3.65719929
43	sperm capacitation (GO:0048240)	3.58666459
44	ncRNA catabolic process (GO:0034661)	3.40542997
45	cilium movement (GO:0003341)	3.40189680
46	seminiferous tubule development (GO:0072520)	3.39347949
47	glomerular visceral epithelial cell development (GO:0072015)	3.38250505
48	protein polyglutamylation (GO:0018095)	3.36867366
49	histone H2A monoubiquitination (GO:0035518)	3.36100896
50	negative regulation of thymocyte apoptotic process (GO:0070244)	3.32079441
51	protein K63-linked deubiquitination (GO:0070536)	3.29194815
52	calcium ion-dependent exocytosis (GO:0017156)	3.27818528
53	sleep (GO:0030431)	3.25750758
54	negative regulation of telomere maintenance (GO:0032205)	3.24996598
55	cofactor catabolic process (GO:0051187)	3.21122214
56	regulation of cilium movement (GO:0003352)	3.15838512
57	histone H2A ubiquitination (GO:0033522)	3.15646899
58	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.10174834
59	positive regulation of catecholamine secretion (GO:0033605)	3.10064782
60	glomerular epithelial cell development (GO:0072310)	3.01786534
61	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.01418737
62	spermatogenesis (GO:0007283)	3.00594677
63	cGMP biosynthetic process (GO:0006182)	2.99801733
64	mast cell activation involved in immune response (GO:0002279)	2.99589139
65	mast cell degranulation (GO:0043303)	2.99589139
66	male gamete generation (GO:0048232)	2.99385922
67	cellular response to interleukin-15 (GO:0071350)	2.98311051
68	organic cation transport (GO:0015695)	2.93428796
69	germ cell development (GO:0007281)	2.91781506
70	inositol phosphate catabolic process (GO:0071545)	2.88960719
71	microtubule depolymerization (GO:0007019)	2.88511892
72	regulation of telomere maintenance (GO:0032204)	2.88025754
73	cilium or flagellum-dependent cell motility (GO:0001539)	2.87860131
74	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.86768572
75	fertilization (GO:0009566)	2.81316094
76	regulation of vacuole organization (GO:0044088)	2.80089805
77	gamete generation (GO:0007276)	2.79554774
78	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	2.78472308
79	thyroid gland development (GO:0030878)	2.75883123
80	cGMP metabolic process (GO:0046068)	2.75163551
81	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.73388200
82	positive regulation of interleukin-4 production (GO:0032753)	2.71493240
83	cilium organization (GO:0044782)	2.69223858
84	maturation of 5.8S rRNA (GO:0000460)	2.68230432
85	N-acetylneuraminate metabolic process (GO:0006054)	2.63532894
86	DNA packaging (GO:0006323)	2.63331251
87	urinary tract smooth muscle contraction (GO:0014848)	2.60309292
88	positive regulation of T cell mediated cytotoxicity (GO:0001916)	2.59230547
89	regulation of T cell mediated cytotoxicity (GO:0001914)	2.57809632
90	relaxation of smooth muscle (GO:0044557)	2.57448224
91	UDP-N-acetylglucosamine metabolic process (GO:0006047)	2.57276595
92	RNA localization (GO:0006403)	2.53913048
93	cAMP catabolic process (GO:0006198)	2.51236849
94	response to acidic pH (GO:0010447)	2.50780893
95	nephron epithelium morphogenesis (GO:0072088)	2.50287374
96	nephron tubule morphogenesis (GO:0072078)	2.50287374
97	cranial nerve morphogenesis (GO:0021602)	2.49601404
98	N-acetylglucosamine metabolic process (GO:0006044)	2.48253619
99	positive regulation of prostaglandin secretion (GO:0032308)	2.47202025
100	cilium assembly (GO:0042384)	2.45940152

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	5.77586391
2	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.73779797
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.21706125
4	VDR_22108803_ChIP-Seq_LS180_Human	2.72995069
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.58973655
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.54982390
7	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.46269555
8	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.30308074
9	ER_23166858_ChIP-Seq_MCF-7_Human	2.16087293
10	AR_21572438_ChIP-Seq_LNCaP_Human	2.10982218
11	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	2.10114804
12	CBP_20019798_ChIP-Seq_JUKART_Human	2.06421174
13	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	2.06421174
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.95837111
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.94402721
16	NANOG_20526341_ChIP-Seq_ESCs_Human	1.84256744
17	GBX2_23144817_ChIP-Seq_PC3_Human	1.83897899
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.82947438
19	ERA_21632823_ChIP-Seq_H3396_Human	1.82465707
20	P300_19829295_ChIP-Seq_ESCs_Human	1.75127526
21	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.73239020
22	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.70242917
23	RUNX_20019798_ChIP-Seq_JUKART_Human	1.69238084
24	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.68780958
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.64999902
26	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.64157495
27	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.64157495
28	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.61865524
29	MYC_19829295_ChIP-Seq_ESCs_Human	1.58646825
30	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.58236494
31	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.57160054
32	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.52288234
33	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.51276392
34	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.49943494
35	GATA3_26560356_Chip-Seq_TH2_Human	1.48705678
36	OCT4_20526341_ChIP-Seq_ESCs_Human	1.48288338
37	TAF2_19829295_ChIP-Seq_ESCs_Human	1.47485224
38	HOXB7_26014856_ChIP-Seq_BT474_Human	1.46843761
39	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.46133709
40	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.42315702
41	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.41859960
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.41727331
43	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.41727331
44	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.41573014
45	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.37028019
46	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.36831430
47	RAC3_21632823_ChIP-Seq_H3396_Human	1.35398508
48	NANOG_19829295_ChIP-Seq_ESCs_Human	1.35345100
49	SOX2_19829295_ChIP-Seq_ESCs_Human	1.35345100
50	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.33604256
51	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.33413397
52	NCOR_22424771_ChIP-Seq_293T_Human	1.32590692
53	FUS_26573619_Chip-Seq_HEK293_Human	1.31791368
54	TP53_22573176_ChIP-Seq_HFKS_Human	1.27484644
55	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.26283389
56	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.26043565
57	AR_20517297_ChIP-Seq_VCAP_Human	1.22171977
58	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22130999
59	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.21550176
60	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.20296815
61	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.19477999
62	RBPJ_21746931_ChIP-Seq_IB4_Human	1.19419143
63	EWS_26573619_Chip-Seq_HEK293_Human	1.18935957
64	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.18373297
65	RUNX2_22187159_ChIP-Seq_PCA_Human	1.18251404
66	GATA3_26560356_Chip-Seq_TH1_Human	1.18240129
67	GATA3_27048872_Chip-Seq_THYMUS_Human	1.18175451
68	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.17861931
69	SMAD4_21799915_ChIP-Seq_A2780_Human	1.16899997
70	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.15027902
71	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.14689578
72	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.13661990
73	AR_25329375_ChIP-Seq_VCAP_Human	1.12213701
74	E2F1_20622854_ChIP-Seq_HELA_Human	1.11870095
75	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.11143128
76	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.11139203
77	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.11013510
78	ETV1_20927104_ChIP-Seq_GIST48_Human	1.10661556
79	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.10157475
80	STAT1_20625510_ChIP-Seq_HELA_Human	1.09891031
81	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.09816125
82	ERG_20517297_ChIP-Seq_VCAP_Human	1.09775649
83	PHF8_20622853_ChIP-Seq_HELA_Human	1.09641337
84	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.09597118
85	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.09354180
86	TBL1_22424771_ChIP-Seq_293T_Human	1.09283220
87	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.08850023
88	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.08458807
89	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.08231425
90	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.07531540
91	STAT3_23295773_ChIP-Seq_U87_Human	1.07304550
92	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	1.06551347
93	NFYB_21822215_ChIP-Seq_K562_Human	1.01780380
94	P300_27268052_Chip-Seq_Bcells_Human	1.01603943
95	PHF8_20622854_ChIP-Seq_HELA_Human	1.01028877
96	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.00943642
97	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00869765
98	TCF4_22108803_ChIP-Seq_LS180_Human	1.00330867
99	NFYA_21822215_ChIP-Seq_K562_Human	0.99793364
100	MYB_26560356_Chip-Seq_TH2_Human	0.97682162

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	5.95712350
2	MP0002102_abnormal_ear_morphology	3.59615291
3	MP0002132_abnormal_respiratory_system	2.49578625
4	MP0001501_abnormal_sleep_pattern	2.48945282
5	MP0003011_delayed_dark_adaptation	2.47696102
6	MP0003698_abnormal_male_reproductive	2.30293738
7	MP0004147_increased_porphyrin_level	2.27322548
8	MP0000569_abnormal_digit_pigmentation	2.22308794
9	MP0001929_abnormal_gametogenesis	2.20212569
10	MP0005551_abnormal_eye_electrophysiolog	2.12314942
11	MP0003878_abnormal_ear_physiology	2.10894790
12	MP0005377_hearing/vestibular/ear_phenot	2.10894790
13	MP0005075_abnormal_melanosome_morpholog	2.02155935
14	MP0004885_abnormal_endolymph	2.01240672
15	MP0008995_early_reproductive_senescence	1.98219021
16	MP0005174_abnormal_tail_pigmentation	1.97504574
17	MP0002837_dystrophic_cardiac_calcinosis	1.94069668
18	MP0005671_abnormal_response_to	1.88735438
19	MP0006072_abnormal_retinal_apoptosis	1.86574436
20	MP0008877_abnormal_DNA_methylation	1.80870172
21	MP0002638_abnormal_pupillary_reflex	1.67907776
22	MP0002282_abnormal_trachea_morphology	1.64111760
23	MP0000678_abnormal_parathyroid_gland	1.56537259
24	MP0000470_abnormal_stomach_morphology	1.50778498
25	MP0004742_abnormal_vestibular_system	1.49467625
26	MP0003646_muscle_fatigue	1.48732782
27	MP0005670_abnormal_white_adipose	1.48049490
28	MP0001968_abnormal_touch/_nociception	1.47454417
29	MP0001270_distended_abdomen	1.46839973
30	MP0003724_increased_susceptibility_to	1.45833171
31	MP0008004_abnormal_stomach_pH	1.45723600
32	MP0003195_calcinosis	1.43447917
33	MP0001188_hyperpigmentation	1.42853394
34	MP0001984_abnormal_olfaction	1.40156681
35	MP0002127_abnormal_cardiovascular_syste	1.33822627
36	MP0005253_abnormal_eye_physiology	1.32222278
37	MP0001485_abnormal_pinna_reflex	1.31251222
38	MP0004036_abnormal_muscle_relaxation	1.28922656
39	MP0002277_abnormal_respiratory_mucosa	1.26013172
40	MP0003693_abnormal_embryo_hatching	1.23380036
41	MP0008875_abnormal_xenobiotic_pharmacok	1.22881558
42	MP0000465_gastrointestinal_hemorrhage	1.21749478
43	MP0001765_abnormal_ion_homeostasis	1.21746062
44	MP0005646_abnormal_pituitary_gland	1.19596510
45	MP0001529_abnormal_vocalization	1.16712605
46	MP0009785_altered_susceptibility_to	1.15598691
47	MP0002249_abnormal_larynx_morphology	1.14687568
48	MP0001664_abnormal_digestion	1.13971554
49	MP0003283_abnormal_digestive_organ	1.10821436
50	MP0003718_maternal_effect	1.10027160
51	MP0002160_abnormal_reproductive_system	1.10014518
52	MP0001502_abnormal_circadian_rhythm	1.09493559
53	MP0001835_abnormal_antigen_presentation	1.08465768
54	MP0002272_abnormal_nervous_system	1.07127019
55	MP0003879_abnormal_hair_cell	1.05570245
56	MP0000372_irregular_coat_pigmentation	1.05362053
57	MP0002161_abnormal_fertility/fecundity	1.02683056
58	MP0004084_abnormal_cardiac_muscle	0.99789990
59	MP0002229_neurodegeneration	0.99225111
60	MP0003300_gastrointestinal_ulcer	0.98802832
61	MP0003786_premature_aging	0.97984187
62	MP0005310_abnormal_salivary_gland	0.97970571
63	MP0001963_abnormal_hearing_physiology	0.96610758
64	MP0002736_abnormal_nociception_after	0.95667336
65	MP0001486_abnormal_startle_reflex	0.95552895
66	MP0000015_abnormal_ear_pigmentation	0.94956543
67	MP0002210_abnormal_sex_determination	0.94129330
68	MP0000653_abnormal_sex_gland	0.92588363
69	MP0008007_abnormal_cellular_replicative	0.92423997
70	MP0003890_abnormal_embryonic-extraembry	0.90700488
71	MP0002876_abnormal_thyroid_physiology	0.90352290
72	MP0005636_abnormal_mineral_homeostasis	0.90085369
73	MP0005389_reproductive_system_phenotype	0.89959583
74	MP0001145_abnormal_male_reproductive	0.87030021
75	MP0004782_abnormal_surfactant_physiolog	0.86608781
76	MP0001905_abnormal_dopamine_level	0.84408774
77	MP0002723_abnormal_immune_serum	0.83710311
78	MP0004142_abnormal_muscle_tone	0.83565488
79	MP0005084_abnormal_gallbladder_morpholo	0.82907201
80	MP0000230_abnormal_systemic_arterial	0.82707555
81	MP0000681_abnormal_thyroid_gland	0.80490550
82	MP0003638_abnormal_response/metabolism_	0.79504445
83	MP0000026_abnormal_inner_ear	0.78395822
84	MP0009745_abnormal_behavioral_response	0.77177868
85	MP0008058_abnormal_DNA_repair	0.77082246
86	MP0009697_abnormal_copulation	0.76948529
87	MP0003315_abnormal_perineum_morphology	0.75917877
88	MP0000703_abnormal_thymus_morphology	0.75676409
89	MP0005083_abnormal_biliary_tract	0.75435934
90	MP0001661_extended_life_span	0.74980670
91	MP0006292_abnormal_olfactory_placode	0.74148048
92	MP0001800_abnormal_humoral_immune	0.74110387
93	MP0004233_abnormal_muscle_weight	0.72878086
94	MP0003136_yellow_coat_color	0.71500230
95	MP0003866_abnormal_defecation	0.71342453
96	MP0009046_muscle_twitch	0.68492729
97	MP0001666_abnormal_nutrient_absorption	0.68014361
98	MP0008775_abnormal_heart_ventricle	0.66866663
99	MP0002557_abnormal_social/conspecific_i	0.66763651
100	MP0006035_abnormal_mitochondrial_morpho	0.66689793

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Decreased central vision (HP:0007663)	4.74916691
2	Abnormal rod and cone electroretinograms (HP:0008323)	4.59460526
3	Reduced antithrombin III activity (HP:0001976)	4.35104445
4	Stomatitis (HP:0010280)	4.16195800
5	Attenuation of retinal blood vessels (HP:0007843)	4.09328813
6	Chronic hepatic failure (HP:0100626)	3.66494892
7	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.61770727
8	Bony spicule pigmentary retinopathy (HP:0007737)	3.47127489
9	Absent/shortened dynein arms (HP:0200106)	3.47087956
10	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.47087956
11	Severe visual impairment (HP:0001141)	3.45346693
12	Hypoproteinemia (HP:0003075)	3.40034229
13	Abnormality of DNA repair (HP:0003254)	3.37259361
14	Duplicated collecting system (HP:0000081)	3.34165907
15	Nephronophthisis (HP:0000090)	3.33914898
16	Type I transferrin isoform profile (HP:0003642)	3.33436284
17	Abnormality of the renal cortex (HP:0011035)	3.27238987
18	Keratoconus (HP:0000563)	3.18113785
19	Increased corneal curvature (HP:0100692)	3.18113785
20	Progressive inability to walk (HP:0002505)	3.13094772
21	Methylmalonic acidemia (HP:0002912)	3.12317747
22	Hypoplasia of the pons (HP:0012110)	3.02305599
23	Abnormality of the renal medulla (HP:0100957)	3.01388460
24	Abnormality of the pons (HP:0007361)	2.99114726
25	Renal cortical cysts (HP:0000803)	2.96626821
26	Abnormal protein N-linked glycosylation (HP:0012347)	2.93226649
27	Abnormal protein glycosylation (HP:0012346)	2.93226649
28	Abnormal glycosylation (HP:0012345)	2.93226649
29	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.93226649
30	Abnormality of the renal collecting system (HP:0004742)	2.92425350
31	Cone-rod dystrophy (HP:0000548)	2.91090301
32	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.83549512
33	Enlarged epiphyses (HP:0010580)	2.81938869
34	Pancreatic cysts (HP:0001737)	2.80483344
35	Inability to walk (HP:0002540)	2.79295682
36	Pancreatic fibrosis (HP:0100732)	2.77844962
37	Methylmalonic aciduria (HP:0012120)	2.76116271
38	Abnormality of midbrain morphology (HP:0002418)	2.75221596
39	Molar tooth sign on MRI (HP:0002419)	2.75221596
40	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.74252018
41	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.74252018
42	Type II lissencephaly (HP:0007260)	2.70214601
43	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.68973858
44	Facial diplegia (HP:0001349)	2.68465726
45	Abnormality of macular pigmentation (HP:0008002)	2.63296216
46	Azoospermia (HP:0000027)	2.62046264
47	Thyroiditis (HP:0100646)	2.59797773
48	Abnormal ciliary motility (HP:0012262)	2.51662504
49	Abnormal respiratory epithelium morphology (HP:0012253)	2.43151869
50	Abnormal respiratory motile cilium morphology (HP:0005938)	2.43151869
51	Tubulointerstitial nephritis (HP:0001970)	2.42424804
52	Hypochromic microcytic anemia (HP:0004840)	2.37851754
53	Severe combined immunodeficiency (HP:0004430)	2.30438532
54	Esophageal atresia (HP:0002032)	2.28342607
55	Large for gestational age (HP:0001520)	2.28265835
56	Congenital stationary night blindness (HP:0007642)	2.28059868
57	Abnormal biliary tract physiology (HP:0012439)	2.27312041
58	Bile duct proliferation (HP:0001408)	2.27312041
59	Abolished electroretinogram (ERG) (HP:0000550)	2.26892446
60	Absent thumb (HP:0009777)	2.26239216
61	Gastrointestinal atresia (HP:0002589)	2.25829061
62	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.25335460
63	True hermaphroditism (HP:0010459)	2.23574997
64	Abnormal drinking behavior (HP:0030082)	2.20735681
65	Polydipsia (HP:0001959)	2.20735681
66	IgG deficiency (HP:0004315)	2.19338398
67	Impulsivity (HP:0100710)	2.17190027
68	Tubular atrophy (HP:0000092)	2.16861769
69	Medial flaring of the eyebrow (HP:0010747)	2.15769242
70	Abnormality of vitamin B metabolism (HP:0004340)	2.15442886
71	Cerebellar dysplasia (HP:0007033)	2.14742104
72	Retinal dysplasia (HP:0007973)	2.14339037
73	Abnormal spermatogenesis (HP:0008669)	2.11441485
74	Abnormal respiratory motile cilium physiology (HP:0012261)	2.09835375
75	Macular degeneration (HP:0000608)	2.09734606
76	Abnormality of eosinophils (HP:0001879)	2.09330894
77	IgM deficiency (HP:0002850)	2.07720643
78	B lymphocytopenia (HP:0010976)	2.07556836
79	Clubbing of toes (HP:0100760)	2.04533918
80	Cystic liver disease (HP:0006706)	2.03541733
81	Hyperkalemia (HP:0002153)	2.00075040
82	Constricted visual fields (HP:0001133)	1.98378254
83	Abnormality of B cell number (HP:0010975)	1.96745486
84	Intestinal atresia (HP:0011100)	1.94920822
85	Abnormal EKG (HP:0003115)	1.91767688
86	Pendular nystagmus (HP:0012043)	1.91506599
87	Clumsiness (HP:0002312)	1.82963104
88	Thoracic kyphosis (HP:0002942)	1.82681464
89	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.81731869
90	Infertility (HP:0000789)	1.81407266
91	Polyuria (HP:0000103)	1.80758475
92	Type II diabetes mellitus (HP:0005978)	1.80397264
93	Abnormality of the columella (HP:0009929)	1.78993027
94	Ketosis (HP:0001946)	1.78205203
95	Abnormality of the ileum (HP:0001549)	1.78194292
96	Photophobia (HP:0000613)	1.77838763
97	Unsteady gait (HP:0002317)	1.68864230
98	Prolonged QT interval (HP:0001657)	1.68425519
99	Delayed gross motor development (HP:0002194)	1.67817553
100	Abnormal biliary tract morphology (HP:0012440)	1.67365175

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	5.13024726
2	PINK1	3.78110170
3	FRK	3.36801811
4	TAOK3	3.14189945
5	EIF2AK3	2.87737665
6	ZAK	2.77808354
7	TLK1	2.65902813
8	NME1	2.64863031
9	MUSK	2.46565313
10	WNK4	2.37735794
11	GRK1	2.20821974
12	INSRR	2.09407018
13	PLK4	2.02703022
14	ADRBK2	2.01478580
15	MARK3	1.83854076
16	GRK6	1.71160689
17	FES	1.66291108
18	KIT	1.64049851
19	BMPR1B	1.62042590
20	IKBKB	1.61374561
21	TEC	1.46547160
22	OBSCN	1.45158340
23	TNIK	1.41878342
24	OXSR1	1.39288010
25	VRK1	1.36830818
26	TIE1	1.36774830
27	CDK3	1.35681294
28	WNK3	1.25228481
29	ITK	1.24489036
30	LATS1	1.17458243
31	STK16	1.14590983
32	IKBKE	1.14015414
33	MAP2K2	1.13277913
34	MAPK15	1.11002177
35	WNK1	1.06689014
36	RPS6KA4	1.06598139
37	MST1R	1.06576568
38	NEK2	1.03631338
39	NUAK1	1.01645837
40	MAPKAPK3	0.98155351
41	CAMKK2	0.96504803
42	MATK	0.91282399
43	BTK	0.88216330
44	FGFR2	0.80803572
45	PTK2B	0.80342057
46	RPS6KA5	0.80340073
47	DAPK2	0.79498471
48	MAP4K1	0.77234306
49	VRK2	0.76536110
50	PHKG2	0.75649741
51	PHKG1	0.75649741
52	MAP2K6	0.75222342
53	PRKCQ	0.74336384
54	SYK	0.73471211
55	MAP2K7	0.69850848
56	PLK2	0.67995698
57	PIK3CG	0.66890773
58	CSNK1G3	0.66874442
59	STK39	0.64088854
60	STK38	0.62155561
61	RPS6KA6	0.60874149
62	CSNK1A1L	0.59807299
63	CSNK1G1	0.59527208
64	TXK	0.57684489
65	MAPK13	0.53429216
66	LCK	0.52579366
67	TRPM7	0.51616280
68	RPS6KA2	0.50339192
69	PRKCE	0.49292332
70	MAPK7	0.49288087
71	CSNK1G2	0.48624184
72	CHUK	0.46756564
73	HCK	0.46421411
74	RPS6KC1	0.45343786
75	RPS6KL1	0.45343786
76	STK38L	0.45268963
77	IGF1R	0.44982185
78	LYN	0.44950718
79	PAK3	0.44656721
80	CAMK1G	0.43434214
81	ATR	0.43003593
82	ATM	0.41188559
83	PNCK	0.40869110
84	NLK	0.39423032
85	CAMK1	0.37114534
86	CSNK1A1	0.36861726
87	BCKDK	0.35355604
88	PRKG1	0.35172064
89	PDK1	0.35098044
90	RPS6KA1	0.33177268
91	MINK1	0.31618047
92	MET	0.30857272
93	MYLK	0.30831059
94	PIK3CA	0.27340936
95	ERBB2	0.26490729
96	DYRK2	0.26396017
97	MAPK10	0.26303932
98	MAPK1	0.25814649
99	PLK3	0.25368470
100	CAMK4	0.25173129

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.94347056
2	Phototransduction_Homo sapiens_hsa04744	3.01674166
3	Olfactory transduction_Homo sapiens_hsa04740	2.94765512
4	Allograft rejection_Homo sapiens_hsa05330	2.69103495
5	Graft-versus-host disease_Homo sapiens_hsa05332	2.66561258
6	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.65164049
7	Intestinal immune network for IgA production_Homo sapiens_hsa04672	2.57077371
8	Type I diabetes mellitus_Homo sapiens_hsa04940	2.51806659
9	Butanoate metabolism_Homo sapiens_hsa00650	2.40267304
10	Asthma_Homo sapiens_hsa05310	2.22236206
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.14681659
12	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.05845905
13	Circadian rhythm_Homo sapiens_hsa04710	1.88477021
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.86189269
15	Fanconi anemia pathway_Homo sapiens_hsa03460	1.81758965
16	Nitrogen metabolism_Homo sapiens_hsa00910	1.75929818
17	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.68137642
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.60539156
19	One carbon pool by folate_Homo sapiens_hsa00670	1.57476200
20	RNA degradation_Homo sapiens_hsa03018	1.52486241
21	Antigen processing and presentation_Homo sapiens_hsa04612	1.51117499
22	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.49381296
23	Primary immunodeficiency_Homo sapiens_hsa05340	1.48655649
24	Purine metabolism_Homo sapiens_hsa00230	1.41503016
25	ABC transporters_Homo sapiens_hsa02010	1.32404170
26	Taste transduction_Homo sapiens_hsa04742	1.32354550
27	RNA polymerase_Homo sapiens_hsa03020	1.25747306
28	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.20644378
29	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.20600026
30	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.19794214
31	Oocyte meiosis_Homo sapiens_hsa04114	1.19679351
32	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.18564258
33	Linoleic acid metabolism_Homo sapiens_hsa00591	1.17368352
34	RNA transport_Homo sapiens_hsa03013	1.16691938
35	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.16661614
36	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.16655205
37	Chemical carcinogenesis_Homo sapiens_hsa05204	1.11500373
38	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.04814829
39	Propanoate metabolism_Homo sapiens_hsa00640	1.03623265
40	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.02021296
41	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.98758503
42	Circadian entrainment_Homo sapiens_hsa04713	0.95855910
43	Homologous recombination_Homo sapiens_hsa03440	0.94444653
44	Salivary secretion_Homo sapiens_hsa04970	0.92564205
45	Herpes simplex infection_Homo sapiens_hsa05168	0.92379738
46	Caffeine metabolism_Homo sapiens_hsa00232	0.90920518
47	beta-Alanine metabolism_Homo sapiens_hsa00410	0.90624906
48	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.90269259
49	Tryptophan metabolism_Homo sapiens_hsa00380	0.89934726
50	Viral myocarditis_Homo sapiens_hsa05416	0.86586592
51	Glycerolipid metabolism_Homo sapiens_hsa00561	0.85797074
52	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.85049872
53	Basal transcription factors_Homo sapiens_hsa03022	0.82838409
54	Ether lipid metabolism_Homo sapiens_hsa00565	0.79050166
55	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.78324180
56	Proteasome_Homo sapiens_hsa03050	0.77335990
57	Histidine metabolism_Homo sapiens_hsa00340	0.74368376
58	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.72052773
59	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.71923597
60	Rheumatoid arthritis_Homo sapiens_hsa05323	0.71920817
61	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.71045788
62	Retinol metabolism_Homo sapiens_hsa00830	0.70921597
63	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.70194023
64	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.70150439
65	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.67597216
66	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.66953068
67	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.65471850
68	Mineral absorption_Homo sapiens_hsa04978	0.63917036
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63152853
70	Leishmaniasis_Homo sapiens_hsa05140	0.62483102
71	Pyrimidine metabolism_Homo sapiens_hsa00240	0.61735606
72	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.61654491
73	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.60192606
74	Renin secretion_Homo sapiens_hsa04924	0.60047189
75	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.58771512
76	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.58403312
77	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.55635839
78	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.55580302
79	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.53769752
80	Morphine addiction_Homo sapiens_hsa05032	0.53527279
81	Regulation of autophagy_Homo sapiens_hsa04140	0.52885138
82	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.51562518
83	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.49717728
84	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.44868841
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.44271166
86	Metabolic pathways_Homo sapiens_hsa01100	0.43766328
87	Calcium signaling pathway_Homo sapiens_hsa04020	0.43119878
88	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.40859800
89	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.40652237
90	Phagosome_Homo sapiens_hsa04145	0.40295614
91	Fatty acid degradation_Homo sapiens_hsa00071	0.40118676
92	Mismatch repair_Homo sapiens_hsa03430	0.39103600
93	Gastric acid secretion_Homo sapiens_hsa04971	0.37984788
94	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.36489730
95	Spliceosome_Homo sapiens_hsa03040	0.36280060
96	Peroxisome_Homo sapiens_hsa04146	0.35613534
97	Serotonergic synapse_Homo sapiens_hsa04726	0.34278685
98	Influenza A_Homo sapiens_hsa05164	0.33531078
99	Insulin secretion_Homo sapiens_hsa04911	0.33094125
100	Gap junction_Homo sapiens_hsa04540	0.32778792

SPDYE18

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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