ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of acrosome reaction (GO:0060046)	7.02370935
2	oocyte development (GO:0048599)	6.92156262
3	multicellular organism reproduction (GO:0032504)	6.79161074
4	positive regulation of uterine smooth muscle contraction (GO:0070474)	6.02246829
5	regulation of cytokine production involved in inflammatory response (GO:1900015)	5.66035200
6	male meiosis I (GO:0007141)	5.51812550
7	regulation of female receptivity (GO:0045924)	5.20233287
8	positive regulation of catecholamine secretion (GO:0033605)	5.15390080
9	regulation of exit from mitosis (GO:0007096)	5.02277673
10	histone lysine demethylation (GO:0070076)	4.86496181
11	regulation of uterine smooth muscle contraction (GO:0070472)	4.62853631
12	histone demethylation (GO:0016577)	4.62221758
13	meiosis I (GO:0007127)	4.55304951
14	synaptonemal complex organization (GO:0070193)	4.52603772
15	reproduction (GO:0000003)	4.51147655
16	protein kinase C signaling (GO:0070528)	4.49522132
17	female mating behavior (GO:0060180)	4.47593469
18	N-terminal protein amino acid acetylation (GO:0006474)	4.40750689
19	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	4.39863302
20	regulation of RIG-I signaling pathway (GO:0039535)	4.37554789
21	aggressive behavior (GO:0002118)	4.36278050
22	drinking behavior (GO:0042756)	4.32386579
23	synaptonemal complex assembly (GO:0007130)	4.30573603
24	regulation of female gonad development (GO:2000194)	4.30551804
25	male meiosis (GO:0007140)	4.19370181
26	positive regulation of meiotic cell cycle (GO:0051446)	4.17850242
27	positive regulation of meiosis (GO:0045836)	4.17849140
28	binding of sperm to zona pellucida (GO:0007339)	4.16844008
29	protein demethylation (GO:0006482)	4.16320157
30	protein dealkylation (GO:0008214)	4.16320157
31	regulation of penile erection (GO:0060405)	4.11158866
32	positive regulation of humoral immune response (GO:0002922)	4.08059385
33	single fertilization (GO:0007338)	4.07821288
34	gonadal mesoderm development (GO:0007506)	4.07416308
35	positive regulation of digestive system process (GO:0060456)	4.02584289
36	positive regulation of prostaglandin secretion (GO:0032308)	4.02262696
37	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	32.7427743
38	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	3.81948768
39	hyperosmotic salinity response (GO:0042538)	3.75490833
40	negative regulation of reproductive process (GO:2000242)	3.74076293
41	negative regulation of digestive system process (GO:0060457)	3.70118262
42	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	3.69399330
43	sleep (GO:0030431)	3.65064549
44	maturation of SSU-rRNA (GO:0030490)	3.61208191
45	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.56393029
46	protein K6-linked ubiquitination (GO:0085020)	3.44425984
47	acrosome reaction (GO:0007340)	3.36318246
48	regulation of prostaglandin secretion (GO:0032306)	3.34897879
49	negative regulation of Ras GTPase activity (GO:0034261)	3.32543718
50	sperm-egg recognition (GO:0035036)	3.24702080
51	positive regulation of reproductive process (GO:2000243)	3.14099662
52	fertilization (GO:0009566)	3.13415366
53	maternal behavior (GO:0042711)	3.10263362
54	transcription from mitochondrial promoter (GO:0006390)	3.06994413
55	regulation of retinoic acid receptor signaling pathway (GO:0048385)	27.3894406
56	regulation of DNA methylation (GO:0044030)	2.96625380
57	response to UV-C (GO:0010225)	2.93414743
58	chromosome organization involved in meiosis (GO:0070192)	2.85186381
59	intestinal epithelial cell development (GO:0060576)	2.78221238
60	meiotic cell cycle process (GO:1903046)	2.77833370
61	calcium ion-dependent exocytosis (GO:0017156)	2.75040468
62	meiotic cell cycle (GO:0051321)	2.73917842
63	parental behavior (GO:0060746)	2.73104711
64	piRNA metabolic process (GO:0034587)	2.68989661
65	regulation of mRNA splicing, via spliceosome (GO:0048024)	2.67211291
66	regulation of meiosis (GO:0040020)	2.65922989
67	regulation of helicase activity (GO:0051095)	2.63934400
68	glycine transport (GO:0015816)	2.63214175
69	regulation of norepinephrine secretion (GO:0014061)	2.62609569
70	cell-cell recognition (GO:0009988)	2.59470023
71	response to prostaglandin (GO:0034694)	2.56608323
72	positive regulation of icosanoid secretion (GO:0032305)	2.53632241
73	mitotic metaphase plate congression (GO:0007080)	2.51847378
74	protein K48-linked deubiquitination (GO:0071108)	2.49883264
75	mitotic chromosome condensation (GO:0007076)	2.48301132
76	meiotic nuclear division (GO:0007126)	2.47314222
77	regulation of double-strand break repair via homologous recombination (GO:0010569)	2.46601266
78	mitochondrial RNA metabolic process (GO:0000959)	2.40535113
79	positive regulation of histone H3-K4 methylation (GO:0051571)	2.40294693
80	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.40193304
81	regulation of RNA splicing (GO:0043484)	2.38813443
82	N-terminal protein amino acid modification (GO:0031365)	2.33319977
83	positive regulation of fatty acid transport (GO:2000193)	2.32498382
84	positive regulation of renal sodium excretion (GO:0035815)	2.31394978
85	response to food (GO:0032094)	2.29501242
86	regulation of meiotic cell cycle (GO:0051445)	2.28295473
87	phosphorelay signal transduction system (GO:0000160)	2.28273892
88	regulation of mRNA processing (GO:0050684)	2.26440131
89	viral transcription (GO:0019083)	2.26435977
90	poly(A)+ mRNA export from nucleus (GO:0016973)	2.25579367
91	regulation of histone H3-K9 methylation (GO:0051570)	2.22825673
92	translational termination (GO:0006415)	2.22704719
93	demethylation (GO:0070988)	2.21534674
94	epithelial cilium movement (GO:0003351)	2.21103117
95	phosphate ion homeostasis (GO:0055062)	2.20596668
96	trivalent inorganic anion homeostasis (GO:0072506)	2.20596668
97	regulation of reproductive process (GO:2000241)	2.20019727
98	autophagic vacuole assembly (GO:0000045)	2.17500660
99	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.17175742
100	histone H3-K9 demethylation (GO:0033169)	12.3430869

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	8.23008209
2	EZH2_22144423_ChIP-Seq_EOC_Human	6.09043509
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.89930659
4	NOTCH1_21737748_ChIP-Seq_TLL_Human	3.75992048
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.38949352
6	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.34101357
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.92701165
8	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.84571101
9	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	2.81873846
10	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	2.81873846
11	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	2.81873846
12	VDR_22108803_ChIP-Seq_LS180_Human	2.72820546
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.66240557
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.50816831
15	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.35161691
16	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.21322056
17	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.19943384
18	MYC_18940864_ChIP-ChIP_HL60_Human	2.17903889
19	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.17598621
20	AUTS2_25519132_ChIP-Seq_293T-REX_Human	2.11767367
21	GBX2_23144817_ChIP-Seq_PC3_Human	2.00642120
22	AR_21909140_ChIP-Seq_LNCAP_Human	1.99624859
23	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.98611610
24	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.98342931
25	IRF1_19129219_ChIP-ChIP_H3396_Human	1.97104276
26	IGF1R_20145208_ChIP-Seq_DFB_Human	1.85046838
27	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.63395135
28	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.60960561
29	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.60833116
30	RNF2_27304074_Chip-Seq_NSC_Mouse	1.56999101
31	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.56180468
32	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.55900864
33	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.52764133
34	E2F7_22180533_ChIP-Seq_HELA_Human	1.49759049
35	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.47507077
36	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.45985056
37	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.45905788
38	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.45311358
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.44992197
40	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.42137968
41	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.39121442
42	SMAD4_21799915_ChIP-Seq_A2780_Human	1.38785138
43	NCOR_22424771_ChIP-Seq_293T_Human	1.38542653
44	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.35643092
45	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.35061452
46	TBL1_22424771_ChIP-Seq_293T_Human	1.33967883
47	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.33790567
48	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	1.32506209
49	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.31625780
50	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.31110869
51	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.29217174
52	TTF2_22483619_ChIP-Seq_HELA_Human	1.28955746
53	TCF4_23295773_ChIP-Seq_U87_Human	1.28758517
54	ETV1_20927104_ChIP-Seq_GIST48_Human	1.27040556
55	RAC3_21632823_ChIP-Seq_H3396_Human	1.26362674
56	CBP_21632823_ChIP-Seq_H3396_Human	1.25584049
57	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.23272251
58	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.22531519
59	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.20254251
60	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.19794928
61	RBPJ_21746931_ChIP-Seq_IB4_Human	1.19679130
62	GATA3_26560356_Chip-Seq_TH1_Human	1.14400367
63	NFYB_21822215_ChIP-Seq_K562_Human	1.14321449
64	STAT3_23295773_ChIP-Seq_U87_Human	1.12975756
65	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.12352687
66	AR_25329375_ChIP-Seq_VCAP_Human	1.12277036
67	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.11567478
68	BCAT_22108803_ChIP-Seq_LS180_Human	1.07155796
69	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.06098086
70	NANOG_20526341_ChIP-Seq_ESCs_Human	1.06071952
71	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.05923715
72	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.04706894
73	RUNX2_22187159_ChIP-Seq_PCA_Human	1.03536154
74	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.03037928
75	TP53_22573176_ChIP-Seq_HFKS_Human	1.02707452
76	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.02079268
77	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.00858604
78	GF1_26923725_Chip-Seq_HPCs_Mouse	1.00645597
79	TAF15_26573619_Chip-Seq_HEK293_Human	0.97167748
80	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.97106584
81	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.96954269
82	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.95026556
83	P300_19829295_ChIP-Seq_ESCs_Human	0.94608381
84	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.93002474
85	RXR_22108803_ChIP-Seq_LS180_Human	0.89335509
86	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.88238916
87	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.87520896
88	PHF8_20622853_ChIP-Seq_HELA_Human	0.86764553
89	TCF4_22108803_ChIP-Seq_LS180_Human	0.86519068
90	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.86338246
91	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.86310704
92	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.85837365
93	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.84921295
94	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.84043077
95	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	0.83659964
96	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.83439981
97	SMRT_27268052_Chip-Seq_Bcells_Human	0.82331662
98	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	0.81628054
99	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.81441203
100	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.81418123

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	6.38085981
2	MP0009379_abnormal_foot_pigmentation	4.61812252
3	MP0003283_abnormal_digestive_organ	4.17458353
4	MP0003950_abnormal_plasma_membrane	3.50154293
5	MP0002160_abnormal_reproductive_system	3.39078596
6	MP0005410_abnormal_fertilization	3.34317863
7	MP0009840_abnormal_foam_cell	3.21101311
8	MP0003693_abnormal_embryo_hatching	3.18011734
9	MP0006276_abnormal_autonomic_nervous	2.86994728
10	MP0003136_yellow_coat_color	2.79353221
11	MP0000678_abnormal_parathyroid_gland	2.71418339
12	MP0001929_abnormal_gametogenesis	2.69883315
13	MP0003718_maternal_effect	2.64833123
14	MP0005360_urolithiasis	2.56631757
15	MP0001502_abnormal_circadian_rhythm	2.45923347
16	MP0002210_abnormal_sex_determination	2.44966517
17	MP0008058_abnormal_DNA_repair	2.19415789
18	MP0003699_abnormal_female_reproductive	2.05089642
19	MP0005423_abnormal_somatic_nervous	2.03464616
20	MP0005647_abnormal_sex_gland	2.01648872
21	MP0001986_abnormal_taste_sensitivity	1.98955569
22	MP0005389_reproductive_system_phenotype	1.94751259
23	MP0008877_abnormal_DNA_methylation	1.87257350
24	MP0000427_abnormal_hair_cycle	1.84462602
25	MP0002277_abnormal_respiratory_mucosa	1.81510710
26	MP0010307_abnormal_tumor_latency	1.73623607
27	MP0000653_abnormal_sex_gland	1.72925030
28	MP0001666_abnormal_nutrient_absorption	1.64405219
29	MP0010094_abnormal_chromosome_stability	1.63325812
30	MP0005646_abnormal_pituitary_gland	1.63198172
31	MP0002127_abnormal_cardiovascular_syste	1.62974535
32	MP0003866_abnormal_defecation	1.58718306
33	MP0005499_abnormal_olfactory_system	1.58343160
34	MP0005394_taste/olfaction_phenotype	1.58343160
35	MP0000049_abnormal_middle_ear	1.55179438
36	MP0005220_abnormal_exocrine_pancreas	1.54730190
37	MP0003698_abnormal_male_reproductive	1.52068816
38	MP0003077_abnormal_cell_cycle	1.50301497
39	MP0002161_abnormal_fertility/fecundity	1.45858135
40	MP0001119_abnormal_female_reproductive	1.41430914
41	MP0002751_abnormal_autonomic_nervous	1.36997764
42	MP0001145_abnormal_male_reproductive	1.34470131
43	MP0001881_abnormal_mammary_gland	1.33706949
44	MP0001664_abnormal_digestion	1.32670999
45	MP0003119_abnormal_digestive_system	1.32224973
46	MP0003938_abnormal_ear_development	1.31299264
47	MP0003868_abnormal_feces_composition	1.24891420
48	MP0000372_irregular_coat_pigmentation	1.22378503
49	MP0003890_abnormal_embryonic-extraembry	1.15415302
50	MP0001440_abnormal_grooming_behavior	1.14536185
51	MP0003121_genomic_imprinting	1.13898475
52	MP0003111_abnormal_nucleus_morphology	1.13485149
53	MP0002102_abnormal_ear_morphology	1.13104625
54	MP0004233_abnormal_muscle_weight	1.08834612
55	MP0003936_abnormal_reproductive_system	1.05700712
56	MP0001730_embryonic_growth_arrest	1.04542999
57	MP0000631_abnormal_neuroendocrine_gland	1.00336664
58	MP0008789_abnormal_olfactory_epithelium	0.94437924
59	MP0003646_muscle_fatigue	0.93367551
60	MP0000350_abnormal_cell_proliferation	0.91131209
61	MP0004957_abnormal_blastocyst_morpholog	0.89622648
62	MP0004142_abnormal_muscle_tone	0.86880153
63	MP0002163_abnormal_gland_morphology	0.82404400
64	MP0010030_abnormal_orbit_morphology	0.81885741
65	MP0001286_abnormal_eye_development	0.79563322
66	MP0003183_abnormal_peptide_metabolism	0.76795280
67	MP0003879_abnormal_hair_cell	0.74027250
68	MP0004215_abnormal_myocardial_fiber	0.73173821
69	MP0005395_other_phenotype	0.72984143
70	MP0002272_abnormal_nervous_system	0.72975152
71	MP0000462_abnormal_digestive_system	0.71369482
72	MP0002229_neurodegeneration	0.70901247
73	MP0002184_abnormal_innervation	0.70734420
74	MP0010368_abnormal_lymphatic_system	0.70582783
75	MP0006072_abnormal_retinal_apoptosis	0.70395560
76	MP0005645_abnormal_hypothalamus_physiol	0.69765158
77	MP0000778_abnormal_nervous_system	0.69508859
78	MP0008932_abnormal_embryonic_tissue	0.69180624
79	MP0004742_abnormal_vestibular_system	0.68986134
80	MP0000230_abnormal_systemic_arterial	0.67789847
81	MP0000470_abnormal_stomach_morphology	0.67754617
82	MP0000627_abnormal_mammary_gland	0.66557791
83	MP0001293_anophthalmia	0.65241998
84	MP0002090_abnormal_vision	0.64075006
85	MP0005551_abnormal_eye_electrophysiolog	0.63804655
86	MP0002233_abnormal_nose_morphology	0.60266708
87	MP0004381_abnormal_hair_follicle	0.59469318
88	MP0004270_analgesia	0.59335759
89	MP0000428_abnormal_craniofacial_morphol	0.57066314
90	MP0001944_abnormal_pancreas_morphology	0.56614272
91	MP0005197_abnormal_uvea_morphology	0.56569802
92	MP0002138_abnormal_hepatobiliary_system	0.56317205
93	MP0005380_embryogenesis_phenotype	0.55409053
94	MP0001672_abnormal_embryogenesis/_devel	0.55409053
95	MP0003880_abnormal_central_pattern	0.51767681
96	MP0000534_abnormal_ureter_morphology	0.51082710
97	MP0002873_normal_phenotype	0.50849945
98	MP0002169_no_abnormal_phenotype	0.50632026
99	MP0005076_abnormal_cell_differentiation	0.50066886
100	MP0002234_abnormal_pharynx_morphology	0.49792800

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature ovarian failure (HP:0008209)	8.35105870
2	Male infertility (HP:0003251)	5.57733048
3	Short tibia (HP:0005736)	4.79581511
4	Aplasia/Hypoplasia of the tibia (HP:0005772)	4.55623021
5	Median cleft lip (HP:0000161)	4.36044891
6	Microglossia (HP:0000171)	4.29119362
7	Facial cleft (HP:0002006)	4.12905401
8	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	3.90266643
9	Abnormal number of incisors (HP:0011064)	3.85071147
10	Rhinitis (HP:0012384)	3.49689885
11	Malnutrition (HP:0004395)	3.48375862
12	Myokymia (HP:0002411)	3.38447073
13	Metaphyseal dysplasia (HP:0100255)	3.30094256
14	Tetraparesis (HP:0002273)	3.22935240
15	Degeneration of the lateral corticospinal tracts (HP:0002314)	3.18022240
16	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	3.18022240
17	Anterior segment dysgenesis (HP:0007700)	3.14809872
18	Congenital sensorineural hearing impairment (HP:0008527)	3.14552083
19	Hyperphosphatemia (HP:0002905)	3.05947043
20	Microretrognathia (HP:0000308)	3.03995342
21	Atonic seizures (HP:0010819)	3.02199729
22	Adrenal hypoplasia (HP:0000835)	2.97662478
23	Abnormality of the corticospinal tract (HP:0002492)	2.97222562
24	Impulsivity (HP:0100710)	2.96931607
25	Glossoptosis (HP:0000162)	2.96526947
26	Abnormality of the nasal septum (HP:0000419)	2.95842917
27	Oligodactyly (hands) (HP:0001180)	2.92991607
28	Abnormal auditory evoked potentials (HP:0006958)	2.91100657
29	Tetany (HP:0001281)	2.82303054
30	Infertility (HP:0000789)	2.77359638
31	Reticulocytopenia (HP:0001896)	2.75863799
32	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.71746043
33	Sensory axonal neuropathy (HP:0003390)	2.71095992
34	Maternal diabetes (HP:0009800)	2.61156169
35	Abnormal ciliary motility (HP:0012262)	2.58989107
36	Abnormality of abdominal situs (HP:0011620)	2.57548516
37	Abdominal situs inversus (HP:0003363)	2.57548516
38	Multiple enchondromatosis (HP:0005701)	2.51056185
39	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.50783293
40	Hypoplasia of the fovea (HP:0007750)	2.50783293
41	Submucous cleft hard palate (HP:0000176)	2.45641941
42	Abnormal pancreas size (HP:0012094)	2.45446352
43	Short chin (HP:0000331)	2.40828634
44	Neurofibrillary tangles (HP:0002185)	2.37562817
45	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.36962211
46	Amelogenesis imperfecta (HP:0000705)	2.36876536
47	Steatorrhea (HP:0002570)	2.33934579
48	Anhidrosis (HP:0000970)	2.33073513
49	Abnormality of lateral ventricle (HP:0030047)	2.32090624
50	Hypophosphatemic rickets (HP:0004912)	2.31676228
51	Abnormality of calcium-phosphate metabolism (HP:0100530)	2.30650533
52	Loss of speech (HP:0002371)	2.29425127
53	Periauricular skin pits (HP:0100277)	2.28807657
54	Preauricular pit (HP:0004467)	2.28807657
55	Ectopic kidney (HP:0000086)	2.22348017
56	Abnormal respiratory motile cilium physiology (HP:0012261)	2.21432759
57	Bony spicule pigmentary retinopathy (HP:0007737)	2.19571665
58	Hypercortisolism (HP:0001578)	2.16291456
59	Osteomalacia (HP:0002749)	2.13556017
60	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.11540861
61	Absent/shortened dynein arms (HP:0200106)	2.11540861
62	Abnormality of the incisor (HP:0000676)	2.10130926
63	Autoimmune thrombocytopenia (HP:0001973)	2.08931131
64	Hypoplasia of the radius (HP:0002984)	2.05498153
65	Type I diabetes mellitus (HP:0100651)	2.05399288
66	Meckel diverticulum (HP:0002245)	2.05089953
67	Abnormality of chromosome stability (HP:0003220)	2.03637309
68	Abnormality of the ileum (HP:0001549)	2.03297468
69	Genu varum (HP:0002970)	2.01576409
70	Absent thumb (HP:0009777)	2.01145187
71	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.98561386
72	Pancreatic fibrosis (HP:0100732)	1.98352749
73	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.96239651
74	Aplasia/hypoplasia of the uterus (HP:0008684)	1.95556151
75	Cleft eyelid (HP:0000625)	1.95160552
76	Abnormality of cells of the erythroid lineage (HP:0012130)	1.93558754
77	Chromsome breakage (HP:0040012)	1.92439330
78	Oligodactyly (HP:0012165)	1.92337509
79	Birth length less than 3rd percentile (HP:0003561)	1.92028644
80	Limb dystonia (HP:0002451)	1.90966033
81	Constricted visual fields (HP:0001133)	1.90671810
82	Abnormality of the preputium (HP:0100587)	1.85071621
83	Abnormal respiratory epithelium morphology (HP:0012253)	1.80655857
84	Abnormal respiratory motile cilium morphology (HP:0005938)	1.80655857
85	Abnormality of the fovea (HP:0000493)	1.79910735
86	Abnormality of dental color (HP:0011073)	1.78287323
87	Azoospermia (HP:0000027)	1.78164549
88	Fat malabsorption (HP:0002630)	1.77952348
89	Short thumb (HP:0009778)	1.77550195
90	Renal Fanconi syndrome (HP:0001994)	1.75030467
91	Exertional dyspnea (HP:0002875)	1.74838377
92	Carpal bone hypoplasia (HP:0001498)	1.73089705
93	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.71800537
94	Hypoplasia of the uterus (HP:0000013)	1.70067276
95	Abnormality of the labia minora (HP:0012880)	1.68527661
96	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.65855050
97	Selective tooth agenesis (HP:0001592)	1.63245656
98	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.62789584
99	Increased hepatocellular lipid droplets (HP:0006565)	1.62546631
100	Congenital malformation of the right heart (HP:0011723)	1.61394880

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	6.76831944
2	CDK19	3.96061421
3	TESK2	3.87796270
4	LATS2	3.57089028
5	CDK12	3.12308553
6	TNIK	2.99835298
7	SRPK1	2.86589681
8	PLK4	2.85299033
9	TAOK3	2.55888164
10	AURKA	2.44179090
11	ZAK	2.41495729
12	TLK1	2.27828053
13	BUB1	2.14442740
14	TRIM28	2.04075577
15	STK39	1.99512747
16	VRK1	1.91113913
17	CDC7	1.70552303
18	ACVR1B	1.55595321
19	PLK1	1.53070909
20	AURKB	1.50753305
21	WNK1	1.40350908
22	PKN1	1.34901626
23	NEK6	1.31218946
24	PIM2	1.24692658
25	PBK	1.23685202
26	TTK	1.22916509
27	BRSK2	1.22914842
28	TEC	1.18518698
29	CHEK2	1.15816275
30	GRK7	1.08066737
31	ARAF	1.02741154
32	STK3	1.02448392
33	BRSK1	1.02441135
34	LATS1	0.98993666
35	BMPR1B	0.98586542
36	MAP3K3	0.94497627
37	EPHA4	0.92456124
38	NLK	0.90479514
39	STK24	0.88734067
40	CDK7	0.88049039
41	CHEK1	0.86735311
42	MELK	0.86124741
43	MAP2K3	0.85799264
44	NUAK1	0.84835027
45	PLK3	0.83939131
46	OXSR1	0.83757793
47	EIF2AK3	0.82267396
48	PLK2	0.80954719
49	STK38L	0.79461846
50	BRAF	0.79204280
51	ICK	0.78480981
52	MARK3	0.77994827
53	MAP3K5	0.77370597
54	CSNK1E	0.75964851
55	MAP3K9	0.71378403
56	RAF1	0.67209466
57	VRK2	0.61108220
58	NME1	0.58361687
59	STK4	0.57433141
60	MARK2	0.57382782
61	PAK1	0.56657287
62	GSK3A	0.54975454
63	WNK4	0.54257322
64	SGK2	0.53536140
65	PRKCI	0.52716421
66	PIM1	0.52443741
67	CDK2	0.52376191
68	MAPK13	0.50753427
69	CSNK2A2	0.49936512
70	NEK2	0.49266214
71	GRK5	0.49196360
72	CSNK2A1	0.48902015
73	WNK3	0.48582390
74	CDK9	0.48125726
75	NTRK3	0.47498071
76	PIK3CA	0.46037089
77	ATR	0.42915457
78	MAPKAPK2	0.42737463
79	MOS	0.42687089
80	PDK2	0.42462109
81	CDK1	0.40420392
82	LRRK2	0.40145884
83	PRKD1	0.39745142
84	CAMK4	0.38116758
85	AKT2	0.37314047
86	CAMK1	0.37093956
87	PIK3CG	0.36913404
88	PRKACA	0.35500561
89	GRK1	0.33441948
90	ATM	0.32991583
91	CSNK1D	0.31435845
92	MTOR	0.30790174
93	DMPK	0.27627143
94	PRKG1	0.24152255
95	DYRK3	0.24116768
96	ILK	0.24066304
97	RPS6KA5	0.24050932
98	GSK3B	0.23574788
99	MAPK1	0.23544372
100	CAMK1D	0.22668003

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	6.17119289
2	Basal transcription factors_Homo sapiens_hsa03022	4.53165800
3	Ribosome_Homo sapiens_hsa03010	4.18287061
4	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.55439177
5	mRNA surveillance pathway_Homo sapiens_hsa03015	2.84868525
6	RNA polymerase_Homo sapiens_hsa03020	2.84584713
7	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.56738348
8	Mismatch repair_Homo sapiens_hsa03430	2.51529637
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.32191272
10	RNA transport_Homo sapiens_hsa03013	2.23989634
11	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	2.16137044
12	Oocyte meiosis_Homo sapiens_hsa04114	2.11157428
13	Sulfur metabolism_Homo sapiens_hsa00920	2.05898929
14	Ovarian steroidogenesis_Homo sapiens_hsa04913	2.03008424
15	Homologous recombination_Homo sapiens_hsa03440	1.85093132
16	Cell cycle_Homo sapiens_hsa04110	1.81821566
17	Regulation of autophagy_Homo sapiens_hsa04140	1.80527200
18	Spliceosome_Homo sapiens_hsa03040	1.79635735
19	Bile secretion_Homo sapiens_hsa04976	1.77026469
20	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.71835776
21	Fanconi anemia pathway_Homo sapiens_hsa03460	1.67914346
22	Taste transduction_Homo sapiens_hsa04742	1.64872755
23	Folate biosynthesis_Homo sapiens_hsa00790	1.49661789
24	p53 signaling pathway_Homo sapiens_hsa04115	1.34697111
25	Olfactory transduction_Homo sapiens_hsa04740	1.32254030
26	RNA degradation_Homo sapiens_hsa03018	1.31473944
27	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.30697672
28	Pyrimidine metabolism_Homo sapiens_hsa00240	1.20119065
29	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.19017698
30	Non-homologous end-joining_Homo sapiens_hsa03450	1.14815604
31	DNA replication_Homo sapiens_hsa03030	1.13321837
32	Serotonergic synapse_Homo sapiens_hsa04726	1.11638750
33	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.10395988
34	Linoleic acid metabolism_Homo sapiens_hsa00591	1.03833601
35	Retinol metabolism_Homo sapiens_hsa00830	1.00224131
36	Alcoholism_Homo sapiens_hsa05034	0.97982933
37	Insulin secretion_Homo sapiens_hsa04911	0.96199169
38	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.91837114
39	Huntingtons disease_Homo sapiens_hsa05016	0.87145299
40	Phototransduction_Homo sapiens_hsa04744	0.84927352
41	Tryptophan metabolism_Homo sapiens_hsa00380	0.81793506
42	Purine metabolism_Homo sapiens_hsa00230	0.78864710
43	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.77503444
44	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.74998867
45	Herpes simplex infection_Homo sapiens_hsa05168	0.67666367
46	Viral carcinogenesis_Homo sapiens_hsa05203	0.67489019
47	GABAergic synapse_Homo sapiens_hsa04727	0.65734308
48	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.65682182
49	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.64238020
50	Morphine addiction_Homo sapiens_hsa05032	0.61729682
51	Nicotine addiction_Homo sapiens_hsa05033	0.61409194
52	Cholinergic synapse_Homo sapiens_hsa04725	0.60654794
53	Cardiac muscle contraction_Homo sapiens_hsa04260	0.59482449
54	Chemical carcinogenesis_Homo sapiens_hsa05204	0.59057510
55	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.57148252
56	Nucleotide excision repair_Homo sapiens_hsa03420	0.55758049
57	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.51839407
58	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.48518699
59	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.48396268
60	Wnt signaling pathway_Homo sapiens_hsa04310	0.46271532
61	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.45469419
62	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.42305732
63	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.41854473
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.41088002
65	Base excision repair_Homo sapiens_hsa03410	0.37483754
66	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.37418006
67	Dopaminergic synapse_Homo sapiens_hsa04728	0.36873964
68	cAMP signaling pathway_Homo sapiens_hsa04024	0.36069081
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.35029522
70	Circadian entrainment_Homo sapiens_hsa04713	0.34766521
71	Circadian rhythm_Homo sapiens_hsa04710	0.34202471
72	Tight junction_Homo sapiens_hsa04530	0.32966602
73	Protein digestion and absorption_Homo sapiens_hsa04974	0.32486214
74	Cocaine addiction_Homo sapiens_hsa05030	0.32373866
75	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.32231559
76	Parkinsons disease_Homo sapiens_hsa05012	0.31663743
77	Calcium signaling pathway_Homo sapiens_hsa04020	0.29861294
78	Protein export_Homo sapiens_hsa03060	0.28658765
79	Lysine degradation_Homo sapiens_hsa00310	0.27241157
80	Amphetamine addiction_Homo sapiens_hsa05031	0.26975502
81	Hippo signaling pathway_Homo sapiens_hsa04390	0.26645607
82	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.26624281
83	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.25435554
84	Pancreatic secretion_Homo sapiens_hsa04972	0.25060439
85	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.24540004
86	MicroRNAs in cancer_Homo sapiens_hsa05206	0.23832400
87	Legionellosis_Homo sapiens_hsa05134	0.23343380
88	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.22215319
89	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.21950294
90	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.21698237
91	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.21374138
92	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.20692513
93	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.20063143
94	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.19754271
95	ABC transporters_Homo sapiens_hsa02010	0.19748349
96	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.18638648
97	Gap junction_Homo sapiens_hsa04540	0.18094921
98	Fatty acid elongation_Homo sapiens_hsa00062	0.16834299
99	Steroid biosynthesis_Homo sapiens_hsa00100	0.15560737
100	Colorectal cancer_Homo sapiens_hsa05210	0.13817085

C1DP4

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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