ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	9.16565828
2	regulation of retinoic acid receptor signaling pathway (GO:0048385)	7.69420731
3	oocyte development (GO:0048599)	7.37707267
4	histone lysine demethylation (GO:0070076)	6.54396533
5	multicellular organism reproduction (GO:0032504)	6.44231666
6	histone demethylation (GO:0016577)	6.16140241
7	synaptonemal complex organization (GO:0070193)	6.15140970
8	positive regulation of meiosis (GO:0045836)	5.96674147
9	synaptonemal complex assembly (GO:0007130)	5.87220311
10	regulation of exit from mitosis (GO:0007096)	5.84465303
11	regulation of RIG-I signaling pathway (GO:0039535)	5.77411426
12	positive regulation of meiotic cell cycle (GO:0051446)	5.67828948
13	protein dealkylation (GO:0008214)	5.55780782
14	protein demethylation (GO:0006482)	5.55780782
15	male meiosis I (GO:0007141)	5.26830879
16	gonadal mesoderm development (GO:0007506)	5.25097615
17	regulation of acrosome reaction (GO:0060046)	5.09837848
18	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	5.01227873
19	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	4.98320819
20	positive regulation of catecholamine secretion (GO:0033605)	4.91767379
21	negative regulation of Ras GTPase activity (GO:0034261)	4.87438427
22	N-terminal protein amino acid acetylation (GO:0006474)	4.84256022
23	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	4.84171211
24	positive regulation of uterine smooth muscle contraction (GO:0070474)	4.60582023
25	regulation of female receptivity (GO:0045924)	4.56030692
26	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	4.55635398
27	male meiosis (GO:0007140)	4.53288368
28	single fertilization (GO:0007338)	4.34933718
29	protein K48-linked deubiquitination (GO:0071108)	4.34579919
30	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.30837667
31	reproduction (GO:0000003)	4.14717185
32	meiosis I (GO:0007127)	4.14388231
33	protein K6-linked ubiquitination (GO:0085020)	4.04668439
34	chromosome organization involved in meiosis (GO:0070192)	4.03241500
35	acrosome reaction (GO:0007340)	3.99733607
36	female mating behavior (GO:0060180)	3.91886682
37	positive regulation of histone H3-K4 methylation (GO:0051571)	3.71336443
38	negative regulation of smooth muscle cell differentiation (GO:0051151)	3.70362275
39	piRNA metabolic process (GO:0034587)	3.65904287
40	cochlea development (GO:0090102)	3.62399772
41	epithelial cilium movement (GO:0003351)	3.54810081
42	intestinal epithelial cell development (GO:0060576)	3.53720946
43	centriole replication (GO:0007099)	3.53453929
44	binding of sperm to zona pellucida (GO:0007339)	3.50481516
45	regulation of uterine smooth muscle contraction (GO:0070472)	3.41672417
46	regulation of meiosis (GO:0040020)	3.40826204
47	behavioral response to nicotine (GO:0035095)	3.40820652
48	response to UV-C (GO:0010225)	3.34797460
49	regulation of penile erection (GO:0060405)	3.34725096
50	fertilization (GO:0009566)	3.33268010
51	maturation of SSU-rRNA (GO:0030490)	3.32334791
52	meiotic cell cycle (GO:0051321)	3.32181372
53	phosphorelay signal transduction system (GO:0000160)	3.28724808
54	regulation of double-strand break repair via homologous recombination (GO:0010569)	3.27806299
55	aggressive behavior (GO:0002118)	3.23213597
56	positive regulation of prostaglandin secretion (GO:0032308)	3.22488699
57	mitochondrial RNA metabolic process (GO:0000959)	3.21699847
58	cilium movement (GO:0003341)	3.20106214
59	positive regulation of digestive system process (GO:0060456)	3.18849077
60	protein kinase C signaling (GO:0070528)	3.16523333
61	demethylation (GO:0070988)	3.13036056
62	striated muscle atrophy (GO:0014891)	3.12692878
63	negative regulation of reproductive process (GO:2000242)	3.12585642
64	meiotic cell cycle process (GO:1903046)	3.11331200
65	regulation of defense response to virus by host (GO:0050691)	3.09982132
66	protein K63-linked deubiquitination (GO:0070536)	3.05684279
67	positive regulation of gastrulation (GO:2000543)	3.04224138
68	negative regulation of digestive system process (GO:0060457)	3.01480223
69	citrulline biosynthetic process (GO:0019240)	2.99549165
70	regulation of histone H3-K9 methylation (GO:0051570)	2.98089211
71	sperm-egg recognition (GO:0035036)	2.97684920
72	drinking behavior (GO:0042756)	2.96403088
73	regulation of female gonad development (GO:2000194)	2.95943242
74	regulation of mRNA splicing, via spliceosome (GO:0048024)	2.95296177
75	regulation of ruffle assembly (GO:1900027)	2.93973889
76	pancreas development (GO:0031016)	2.93269875
77	DNA replication-dependent nucleosome assembly (GO:0006335)	2.91469172
78	DNA replication-dependent nucleosome organization (GO:0034723)	2.91469172
79	mitochondrion morphogenesis (GO:0070584)	2.90593873
80	mesenchymal to epithelial transition (GO:0060231)	2.88652891
81	indole-containing compound catabolic process (GO:0042436)	2.87564911
82	indolalkylamine catabolic process (GO:0046218)	2.87564911
83	tryptophan catabolic process (GO:0006569)	2.87564911
84	calcium ion-dependent exocytosis (GO:0017156)	2.86587449
85	spermatid development (GO:0007286)	2.81710152
86	postsynaptic membrane organization (GO:0001941)	2.80307144
87	regulation of meiotic cell cycle (GO:0051445)	2.78812171
88	glycerophospholipid catabolic process (GO:0046475)	2.74479143
89	centrosome duplication (GO:0051298)	2.74322452
90	mesonephros development (GO:0001823)	2.74289863
91	kynurenine metabolic process (GO:0070189)	2.74050086
92	RNA localization (GO:0006403)	2.72372442
93	muscle atrophy (GO:0014889)	2.71292271
94	positive regulation of reproductive process (GO:2000243)	2.70023664
95	cellular anion homeostasis (GO:0030002)	2.69704797
96	regulation of neurotransmitter uptake (GO:0051580)	2.69508189
97	transcription from mitochondrial promoter (GO:0006390)	2.69326173
98	indolalkylamine metabolic process (GO:0006586)	2.69061085
99	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.68272051
100	histone H3-K9 demethylation (GO:0033169)	16.9188432

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	7.51724717
2	EZH2_22144423_ChIP-Seq_EOC_Human	7.43450628
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.55848084
4	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.49233692
5	VDR_22108803_ChIP-Seq_LS180_Human	3.38712007
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.08469235
7	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.63004112
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.50810312
9	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.44542710
10	IRF1_19129219_ChIP-ChIP_H3396_Human	2.40505026
11	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.36690012
12	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.30568099
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.17371606
14	ZNF274_21170338_ChIP-Seq_K562_Hela	1.87578034
15	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.85171846
16	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.84790563
17	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.84055563
18	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.78789197
19	IGF1R_20145208_ChIP-Seq_DFB_Human	1.78246881
20	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.71987426
21	RNF2_27304074_Chip-Seq_NSC_Mouse	1.70582786
22	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.69442858
23	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.66799581
24	TCF4_23295773_ChIP-Seq_U87_Human	1.65313159
25	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.60869887
26	MYC_18940864_ChIP-ChIP_HL60_Human	1.60648918
27	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.59168725
28	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.54007403
29	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.53772989
30	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.53705873
31	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.53305286
32	RXR_22108803_ChIP-Seq_LS180_Human	1.52127334
33	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.51933597
34	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.51804097
35	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.51585346
36	STAT3_23295773_ChIP-Seq_U87_Human	1.51287092
37	CBP_21632823_ChIP-Seq_H3396_Human	1.50157855
38	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.49776620
39	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.48508260
40	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.47850445
41	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.47708291
42	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.47611485
43	NCOR_22424771_ChIP-Seq_293T_Human	1.46863314
44	SMAD4_21799915_ChIP-Seq_A2780_Human	1.43225627
45	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.42900865
46	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.42137403
47	P300_19829295_ChIP-Seq_ESCs_Human	1.39677162
48	AR_25329375_ChIP-Seq_VCAP_Human	1.39439496
49	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.37139857
50	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.36248117
51	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.35358416
52	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.34128139
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.33456779
54	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.33126073
55	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.32401876
56	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.32118925
57	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.29626215
58	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.25485720
59	BCAT_22108803_ChIP-Seq_LS180_Human	1.23676991
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.20828627
61	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.19382713
62	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.17765067
63	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.17127430
64	GATA3_26560356_Chip-Seq_TH1_Human	1.14977573
65	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.14756067
66	RAC3_21632823_ChIP-Seq_H3396_Human	1.14384921
67	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	1.13954314
68	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.12706021
69	GF1_26923725_Chip-Seq_HPCs_Mouse	1.10384487
70	AR_21909140_ChIP-Seq_LNCAP_Human	1.09500801
71	SMRT_27268052_Chip-Seq_Bcells_Human	1.09333551
72	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.08905926
73	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.08570686
74	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.08497265
75	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.08275810
76	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08256706
77	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.08022018
78	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.04650568
79	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.04626452
80	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.04126348
81	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.03526944
82	REST_21632747_ChIP-Seq_MESCs_Mouse	1.00326189
83	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.99160174
84	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.98334329
85	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.98334329
86	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.97918185
87	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.97734056
88	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	0.96837268
89	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.95914021
90	TAF2_19829295_ChIP-Seq_ESCs_Human	0.95267168
91	OCT4_19829295_ChIP-Seq_ESCs_Human	0.93760830
92	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	0.93285904
93	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	0.93285904
94	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	0.93285904
95	TP53_22573176_ChIP-Seq_HFKS_Human	0.93140467
96	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.90961130
97	ESET_19884257_ChIP-Seq_ESCs_Mouse	0.90368947
98	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.89190247
99	POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.88260258
100	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.86481982

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	5.97968137
2	MP0003283_abnormal_digestive_organ	4.83423879
3	MP0009379_abnormal_foot_pigmentation	3.96174375
4	MP0003950_abnormal_plasma_membrane	3.60055639
5	MP0003136_yellow_coat_color	3.52706333
6	MP0003693_abnormal_embryo_hatching	3.45322738
7	MP0002160_abnormal_reproductive_system	3.26424999
8	MP0000427_abnormal_hair_cycle	3.20821878
9	MP0000678_abnormal_parathyroid_gland	2.96478356
10	MP0005410_abnormal_fertilization	2.72673120
11	MP0006276_abnormal_autonomic_nervous	2.61448912
12	MP0009840_abnormal_foam_cell	2.48229441
13	MP0005646_abnormal_pituitary_gland	2.36648234
14	MP0001502_abnormal_circadian_rhythm	2.21497416
15	MP0001929_abnormal_gametogenesis	2.20458497
16	MP0005645_abnormal_hypothalamus_physiol	2.13805552
17	MP0002210_abnormal_sex_determination	2.13341214
18	MP0003183_abnormal_peptide_metabolism	2.08878383
19	MP0001664_abnormal_digestion	2.06815031
20	MP0000049_abnormal_middle_ear	1.97641069
21	MP0002751_abnormal_autonomic_nervous	1.96790174
22	MP0003119_abnormal_digestive_system	1.96461816
23	MP0008058_abnormal_DNA_repair	1.88812671
24	MP0003699_abnormal_female_reproductive	1.79230493
25	MP0003890_abnormal_embryonic-extraembry	1.75112179
26	MP0005389_reproductive_system_phenotype	1.66863360
27	MP0003718_maternal_effect	1.65982996
28	MP0003938_abnormal_ear_development	1.60904762
29	MP0008877_abnormal_DNA_methylation	1.58514986
30	MP0004742_abnormal_vestibular_system	1.53655390
31	MP0005220_abnormal_exocrine_pancreas	1.52731135
32	MP0004043_abnormal_pH_regulation	1.51734994
33	MP0005360_urolithiasis	1.50838342
34	MP0003866_abnormal_defecation	1.50010600
35	MP0000653_abnormal_sex_gland	1.44148623
36	MP0000470_abnormal_stomach_morphology	1.42689673
37	MP0003698_abnormal_male_reproductive	1.41130497
38	MP0002277_abnormal_respiratory_mucosa	1.39997946
39	MP0001501_abnormal_sleep_pattern	1.35242305
40	MP0005647_abnormal_sex_gland	1.34634776
41	MP0003936_abnormal_reproductive_system	1.28929942
42	MP0003880_abnormal_central_pattern	1.28777617
43	MP0001119_abnormal_female_reproductive	1.25347869
44	MP0003868_abnormal_feces_composition	1.24928988
45	MP0001145_abnormal_male_reproductive	1.20150481
46	MP0002102_abnormal_ear_morphology	1.20085295
47	MP0002161_abnormal_fertility/fecundity	1.19281683
48	MP0001666_abnormal_nutrient_absorption	1.18524324
49	MP0000631_abnormal_neuroendocrine_gland	1.17518634
50	MP0010094_abnormal_chromosome_stability	1.17317462
51	MP0000534_abnormal_ureter_morphology	1.14042658
52	MP0005551_abnormal_eye_electrophysiolog	1.13959271
53	MP0003959_abnormal_lean_body	1.13232645
54	MP0001286_abnormal_eye_development	1.09446855
55	MP0002272_abnormal_nervous_system	1.09435506
56	MP0000778_abnormal_nervous_system	1.04992296
57	MP0002184_abnormal_innervation	1.04821415
58	MP0003879_abnormal_hair_cell	1.02086633
59	MP0001440_abnormal_grooming_behavior	1.01490141
60	MP0000230_abnormal_systemic_arterial	1.00665819
61	MP0009745_abnormal_behavioral_response	0.99511959
62	MP0006072_abnormal_retinal_apoptosis	0.97816496
63	MP0005076_abnormal_cell_differentiation	0.95856858
64	MP0004233_abnormal_muscle_weight	0.95315764
65	MP0010307_abnormal_tumor_latency	0.91226159
66	MP0001485_abnormal_pinna_reflex	0.89127893
67	MP0001986_abnormal_taste_sensitivity	0.86271704
68	MP0002127_abnormal_cardiovascular_syste	0.85779673
69	MP0003077_abnormal_cell_cycle	0.84931566
70	MP0000647_abnormal_sebaceous_gland	0.83558253
71	MP0000026_abnormal_inner_ear	0.82464190
72	MP0001730_embryonic_growth_arrest	0.80854741
73	MP0002163_abnormal_gland_morphology	0.79335682
74	MP0002229_neurodegeneration	0.78981510
75	MP0000467_abnormal_esophagus_morphology	0.77659736
76	MP0000428_abnormal_craniofacial_morphol	0.76473117
77	MP0002249_abnormal_larynx_morphology	0.74354555
78	MP0002067_abnormal_sensory_capabilities	0.71781929
79	MP0002234_abnormal_pharynx_morphology	0.69108652
80	MP0001944_abnormal_pancreas_morphology	0.68855226
81	MP0001963_abnormal_hearing_physiology	0.68013057
82	MP0001881_abnormal_mammary_gland	0.67201231
83	MP0004142_abnormal_muscle_tone	0.66492277
84	MP0001764_abnormal_homeostasis	0.66365201
85	MP0005334_abnormal_fat_pad	0.64116910
86	MP0000372_irregular_coat_pigmentation	0.62401052
87	MP0000462_abnormal_digestive_system	0.62251057
88	MP0000569_abnormal_digit_pigmentation	0.59953235
89	MP0000350_abnormal_cell_proliferation	0.57997383
90	MP0002095_abnormal_skin_pigmentation	0.57679836
91	MP0000383_abnormal_hair_follicle	0.56804880
92	MP0004019_abnormal_vitamin_homeostasis	0.55896360
93	MP0002557_abnormal_social/conspecific_i	0.55190151
94	MP0001968_abnormal_touch/_nociception	0.54613289
95	MP0005197_abnormal_uvea_morphology	0.53937356
96	MP0003646_muscle_fatigue	0.52290456
97	MP0004885_abnormal_endolymph	0.51874082
98	MP0008872_abnormal_physiological_respon	0.51841771
99	MP0005423_abnormal_somatic_nervous	0.51053198
100	MP0001293_anophthalmia	0.50913090

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature ovarian failure (HP:0008209)	6.33445593
2	Abnormal number of incisors (HP:0011064)	4.80494551
3	Tetany (HP:0001281)	4.77611421
4	Median cleft lip (HP:0000161)	4.55039110
5	Aplasia/Hypoplasia of the tibia (HP:0005772)	4.21904282
6	Short tibia (HP:0005736)	4.09122100
7	Abnormality of the nasal septum (HP:0000419)	4.08164396
8	Oligodactyly (hands) (HP:0001180)	4.03895676
9	Abdominal situs inversus (HP:0003363)	3.75924573
10	Abnormality of abdominal situs (HP:0011620)	3.75924573
11	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.53655983
12	Abnormality of alanine metabolism (HP:0010916)	3.53655983
13	Hyperalaninemia (HP:0003348)	3.53655983
14	Impulsivity (HP:0100710)	3.45750597
15	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.39398993
16	Amelogenesis imperfecta (HP:0000705)	3.38143154
17	Congenital sensorineural hearing impairment (HP:0008527)	3.37628388
18	Birth length less than 3rd percentile (HP:0003561)	3.37494705
19	Atonic seizures (HP:0010819)	3.26475709
20	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	3.26003496
21	Facial cleft (HP:0002006)	3.18137107
22	Maternal diabetes (HP:0009800)	3.07510334
23	Microglossia (HP:0000171)	3.01129687
24	Absent thumb (HP:0009777)	2.93604901
25	Partial agenesis of the corpus callosum (HP:0001338)	2.86482758
26	Chorioretinal atrophy (HP:0000533)	2.85087865
27	Microretrognathia (HP:0000308)	2.82526773
28	Metaphyseal dysplasia (HP:0100255)	2.78913653
29	Abnormal auditory evoked potentials (HP:0006958)	2.76290746
30	Abnormality of cells of the erythroid lineage (HP:0012130)	2.75477202
31	Hypoplasia of the radius (HP:0002984)	2.64671290
32	Hyperphosphatemia (HP:0002905)	2.64173551
33	Pancreatic fibrosis (HP:0100732)	2.61042563
34	Adrenal hypoplasia (HP:0000835)	2.54412276
35	Ectopic kidney (HP:0000086)	2.54381910
36	Oligodactyly (HP:0012165)	2.47837221
37	Abnormal number of erythroid precursors (HP:0012131)	2.47817067
38	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.47591175
39	Abnormality of the incisor (HP:0000676)	2.44623788
40	Type I diabetes mellitus (HP:0100651)	2.34377473
41	Genu varum (HP:0002970)	2.31630975
42	Abnormality of chromosome stability (HP:0003220)	2.31207349
43	Absent/shortened dynein arms (HP:0200106)	2.29107766
44	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.29107766
45	Abnormality of the ileum (HP:0001549)	2.28026368
46	Short thumb (HP:0009778)	2.26558647
47	Spinal muscular atrophy (HP:0007269)	2.25052334
48	Meckel diverticulum (HP:0002245)	2.24703592
49	Anterior segment dysgenesis (HP:0007700)	2.24627249
50	Abnormality of macular pigmentation (HP:0008002)	2.23390229
51	Bicornuate uterus (HP:0000813)	2.21974372
52	Abnormality of dental color (HP:0011073)	2.21612361
53	Tetraparesis (HP:0002273)	2.19947288
54	Abnormality of the preputium (HP:0100587)	2.19559855
55	Rhinitis (HP:0012384)	2.19093581
56	Submucous cleft hard palate (HP:0000176)	2.16900218
57	Aplasia/Hypoplasia of the sternum (HP:0006714)	2.14448574
58	Disproportionate short-trunk short stature (HP:0003521)	2.12563147
59	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.11560016
60	Abnormal ciliary motility (HP:0012262)	2.09199028
61	Exertional dyspnea (HP:0002875)	2.07296658
62	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.07256392
63	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.07256392
64	Male infertility (HP:0003251)	2.07059430
65	Decreased subcutaneous fat (HP:0001002)	2.05404707
66	Diaphragmatic weakness (HP:0009113)	2.03785652
67	Bilateral microphthalmos (HP:0007633)	2.02981183
68	Myokymia (HP:0002411)	2.01876705
69	Concave nail (HP:0001598)	2.00910436
70	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.99925576
71	Abnormal pancreas size (HP:0012094)	1.98639819
72	Abnormal respiratory motile cilium physiology (HP:0012261)	1.96951417
73	Genital tract atresia (HP:0001827)	1.96288537
74	Loss of speech (HP:0002371)	1.96153004
75	Reticulocytopenia (HP:0001896)	1.92767336
76	Abnormality of purine metabolism (HP:0004352)	1.89539691
77	Bony spicule pigmentary retinopathy (HP:0007737)	1.88528469
78	Optic nerve hypoplasia (HP:0000609)	1.85450434
79	Horseshoe kidney (HP:0000085)	1.85273652
80	Forearm undergrowth (HP:0009821)	1.84777355
81	Supranuclear gaze palsy (HP:0000605)	1.83854757
82	Glossoptosis (HP:0000162)	1.83802026
83	Short chin (HP:0000331)	1.83588790
84	Autoimmune thrombocytopenia (HP:0001973)	1.81058733
85	Clubbing of toes (HP:0100760)	1.80634319
86	Mesangial abnormality (HP:0001966)	1.79841268
87	Potter facies (HP:0002009)	1.79594014
88	Facial shape deformation (HP:0011334)	1.79594014
89	Preaxial hand polydactyly (HP:0001177)	1.79497314
90	Abnormality of the carotid arteries (HP:0005344)	1.78462015
91	Abnormality of the corticospinal tract (HP:0002492)	1.77819732
92	Molar tooth sign on MRI (HP:0002419)	1.76062096
93	Abnormality of midbrain morphology (HP:0002418)	1.76062096
94	Triphalangeal thumb (HP:0001199)	1.74733412
95	Gastrointestinal atresia (HP:0002589)	1.73726336
96	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.72137411
97	Azoospermia (HP:0000027)	1.70361987
98	Neurofibrillary tangles (HP:0002185)	1.70000499
99	Hypokinesia (HP:0002375)	1.69891820
100	Abnormality of calcium-phosphate metabolism (HP:0100530)	1.68692206

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	6.28542392
2	TNIK	3.55517628
3	PLK4	3.19809179
4	CDK12	3.14125095
5	ACVR1B	2.80934768
6	BMPR1B	2.79772165
7	LATS2	2.65632749
8	TAOK3	2.44536597
9	CDK19	2.38223552
10	AURKA	2.36768250
11	ZAK	2.34421497
12	TLK1	2.28027114
13	VRK1	2.22005555
14	SRPK1	2.19152136
15	STK39	2.18477722
16	CDC7	1.99808190
17	CAMK1D	1.94570391
18	PBK	1.90791729
19	ICK	1.85129704
20	INSRR	1.55593364
21	MAP3K3	1.55159880
22	WNK1	1.54443641
23	TEC	1.48303805
24	WNK4	1.46402465
25	TYRO3	1.41756502
26	PKN1	1.39435449
27	MAP2K3	1.36374130
28	LATS1	1.36342801
29	NLK	1.31138369
30	CHEK2	1.23529811
31	TTK	1.23401197
32	STK38L	1.12994549
33	TGFBR1	1.12880147
34	MELK	1.12103596
35	CAMK1G	1.05863960
36	EPHA4	1.04594859
37	OXSR1	1.04579770
38	GRK1	1.04019069
39	FRK	1.01803025
40	CAMK4	0.97621661
41	AURKB	0.97534854
42	ADRBK2	0.96549449
43	CAMK1	0.95580166
44	ARAF	0.94770836
45	MARK2	0.89814675
46	MAPK13	0.87826317
47	PLK1	0.87492020
48	PIK3CA	0.84625735
49	NME1	0.82507030
50	PIM1	0.81754177
51	CDK7	0.79733373
52	IRAK4	0.76193908
53	STK24	0.74868802
54	STK3	0.74318183
55	BRAF	0.64798527
56	CAMKK2	0.64361794
57	TESK2	0.62802008
58	SGK2	0.60877377
59	MAPK15	0.58376711
60	VRK2	0.56482435
61	GRK7	0.53642956
62	PIM2	0.52716641
63	PLK2	0.52453191
64	PRKCI	0.51294682
65	CSNK1D	0.49726441
66	NTRK2	0.48877979
67	MAPKAPK2	0.48860488
68	CHEK1	0.48851978
69	ILK	0.48338087
70	NEK2	0.47921342
71	GRK5	0.47326514
72	NUAK1	0.45705600
73	CSNK1E	0.45342691
74	STK4	0.44128876
75	PDK1	0.40880127
76	RPS6KA5	0.39717507
77	PRKACA	0.39245400
78	PAK1	0.37149627
79	ADRBK1	0.36640091
80	TNK2	0.35429065
81	NTRK3	0.34682404
82	CDK2	0.33981659
83	PRKD1	0.33650734
84	MOS	0.32324551
85	CDK1	0.30399831
86	MET	0.30312638
87	CDK9	0.28680041
88	IGF1R	0.28233140
89	LIMK1	0.26532108
90	CAMK2A	0.26150994
91	ATM	0.25985528
92	PDPK1	0.25159820
93	IRAK1	0.24945609
94	CSNK2A1	0.24442010
95	MAP3K9	0.24130312
96	SGK494	0.23321030
97	SGK223	0.23321030
98	RET	0.21695626
99	GSK3B	0.21528522
100	PRKACB	0.21516319

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	6.90082058
2	Ribosome_Homo sapiens_hsa03010	3.75422891
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.14890765
4	Basal transcription factors_Homo sapiens_hsa03022	3.02175101
5	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.81080911
6	Homologous recombination_Homo sapiens_hsa03440	2.74893042
7	Phototransduction_Homo sapiens_hsa04744	2.55999469
8	Mismatch repair_Homo sapiens_hsa03430	2.43505077
9	Sulfur metabolism_Homo sapiens_hsa00920	2.25802432
10	Linoleic acid metabolism_Homo sapiens_hsa00591	2.20687002
11	Bile secretion_Homo sapiens_hsa04976	2.20588381
12	RNA polymerase_Homo sapiens_hsa03020	2.14078128
13	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.07859476
14	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.78922846
15	Fanconi anemia pathway_Homo sapiens_hsa03460	1.77378881
16	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.55648686
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.54444775
18	Olfactory transduction_Homo sapiens_hsa04740	1.51267774
19	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.49551713
20	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.45577777
21	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.44463291
22	Insulin secretion_Homo sapiens_hsa04911	1.32618431
23	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.31685740
24	RNA transport_Homo sapiens_hsa03013	1.27495010
25	DNA replication_Homo sapiens_hsa03030	1.26564521
26	mRNA surveillance pathway_Homo sapiens_hsa03015	1.22770245
27	Non-homologous end-joining_Homo sapiens_hsa03450	1.16651277
28	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.15161461
29	Retinol metabolism_Homo sapiens_hsa00830	1.14503453
30	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.07885175
31	Pyrimidine metabolism_Homo sapiens_hsa00240	1.06246024
32	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.05394972
33	Nicotine addiction_Homo sapiens_hsa05033	1.04497230
34	Serotonergic synapse_Homo sapiens_hsa04726	1.03375194
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00969789
36	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.00350895
37	Purine metabolism_Homo sapiens_hsa00230	0.99737817
38	RNA degradation_Homo sapiens_hsa03018	0.98423082
39	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.97124534
40	Oocyte meiosis_Homo sapiens_hsa04114	0.95512464
41	Taste transduction_Homo sapiens_hsa04742	0.92945452
42	Cocaine addiction_Homo sapiens_hsa05030	0.90712656
43	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.89801467
44	Morphine addiction_Homo sapiens_hsa05032	0.89491029
45	Alcoholism_Homo sapiens_hsa05034	0.81588171
46	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.81184013
47	Ether lipid metabolism_Homo sapiens_hsa00565	0.81066862
48	One carbon pool by folate_Homo sapiens_hsa00670	0.79481114
49	Nitrogen metabolism_Homo sapiens_hsa00910	0.77343670
50	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.73047582
51	cAMP signaling pathway_Homo sapiens_hsa04024	0.72910286
52	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.72897312
53	Nucleotide excision repair_Homo sapiens_hsa03420	0.72026754
54	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.68932223
55	Salivary secretion_Homo sapiens_hsa04970	0.68702566
56	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.67064735
57	Spliceosome_Homo sapiens_hsa03040	0.66187518
58	Huntingtons disease_Homo sapiens_hsa05016	0.65680515
59	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.63253607
60	ABC transporters_Homo sapiens_hsa02010	0.60860386
61	Circadian rhythm_Homo sapiens_hsa04710	0.59904503
62	GABAergic synapse_Homo sapiens_hsa04727	0.57981596
63	Basal cell carcinoma_Homo sapiens_hsa05217	0.57124020
64	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.52647632
65	Tight junction_Homo sapiens_hsa04530	0.52012365
66	Protein digestion and absorption_Homo sapiens_hsa04974	0.51296281
67	Circadian entrainment_Homo sapiens_hsa04713	0.51138466
68	Cell cycle_Homo sapiens_hsa04110	0.50757269
69	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.50614572
70	Butanoate metabolism_Homo sapiens_hsa00650	0.49291966
71	Cholinergic synapse_Homo sapiens_hsa04725	0.48170898
72	MAPK signaling pathway_Homo sapiens_hsa04010	0.47808077
73	p53 signaling pathway_Homo sapiens_hsa04115	0.46832042
74	Calcium signaling pathway_Homo sapiens_hsa04020	0.45938190
75	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.43348744
76	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.42512163
77	Collecting duct acid secretion_Homo sapiens_hsa04966	0.42403492
78	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.40672298
79	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.40393044
80	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.40105417
81	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.39408881
82	Hippo signaling pathway_Homo sapiens_hsa04390	0.39072484
83	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.38491999
84	Amphetamine addiction_Homo sapiens_hsa05031	0.35850978
85	Lysine degradation_Homo sapiens_hsa00310	0.35022873
86	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.33591334
87	Dopaminergic synapse_Homo sapiens_hsa04728	0.33226358
88	Cardiac muscle contraction_Homo sapiens_hsa04260	0.32801307
89	Glutamatergic synapse_Homo sapiens_hsa04724	0.32075849
90	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.31896348
91	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.30433529
92	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.30028789
93	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28508124
94	Caffeine metabolism_Homo sapiens_hsa00232	0.27554815
95	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.26986822
96	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.26407851
97	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.24282564
98	Pancreatic secretion_Homo sapiens_hsa04972	0.24008749
99	Mineral absorption_Homo sapiens_hsa04978	0.23389170
100	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.21603276

TRIM49D2

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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