ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	oocyte development (GO:0048599)	8.63369066
2	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	8.05964643
3	histone lysine demethylation (GO:0070076)	7.87408665
4	histone demethylation (GO:0016577)	7.44745285
5	synaptonemal complex organization (GO:0070193)	7.13544234
6	regulation of exit from mitosis (GO:0007096)	7.04686613
7	regulation of RIG-I signaling pathway (GO:0039535)	6.98779371
8	positive regulation of meiosis (GO:0045836)	6.94554277
9	synaptonemal complex assembly (GO:0007130)	6.87538852
10	regulation of retinoic acid receptor signaling pathway (GO:0048385)	6.74411529
11	multicellular organism reproduction (GO:0032504)	6.73035925
12	protein dealkylation (GO:0008214)	6.72624086
13	protein demethylation (GO:0006482)	6.72624086
14	positive regulation of meiotic cell cycle (GO:0051446)	6.58984301
15	gonadal mesoderm development (GO:0007506)	6.32491760
16	negative regulation of Ras GTPase activity (GO:0034261)	6.15663722
17	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	6.10121893
18	regulation of acrosome reaction (GO:0060046)	5.93091965
19	N-terminal protein amino acid acetylation (GO:0006474)	5.63365559
20	positive regulation of catecholamine secretion (GO:0033605)	5.55354241
21	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	5.47088479
22	positive regulation of uterine smooth muscle contraction (GO:0070474)	5.19338300
23	regulation of female receptivity (GO:0045924)	5.03926716
24	single fertilization (GO:0007338)	4.88122487
25	male meiosis I (GO:0007141)	4.83763285
26	acrosome reaction (GO:0007340)	4.79776990
27	protein K48-linked deubiquitination (GO:0071108)	4.79339373
28	male meiosis (GO:0007140)	4.51643337
29	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.44756854
30	reproduction (GO:0000003)	4.41282691
31	chromosome organization involved in meiosis (GO:0070192)	4.35243768
32	female mating behavior (GO:0060180)	4.30831246
33	response to UV-C (GO:0010225)	4.13637705
34	binding of sperm to zona pellucida (GO:0007339)	4.10132953
35	regulation of uterine smooth muscle contraction (GO:0070472)	3.98996789
36	regulation of meiosis (GO:0040020)	3.97433805
37	meiosis I (GO:0007127)	3.83334881
38	positive regulation of histone H3-K4 methylation (GO:0051571)	3.79393251
39	centriole replication (GO:0007099)	3.77322017
40	citrulline biosynthetic process (GO:0019240)	3.76827845
41	fertilization (GO:0009566)	3.69683250
42	regulation of helicase activity (GO:0051095)	3.61423328
43	intestinal epithelial cell development (GO:0060576)	3.60527001
44	protein K6-linked ubiquitination (GO:0085020)	3.59231557
45	aggressive behavior (GO:0002118)	3.58989421
46	regulation of ruffle assembly (GO:1900027)	3.57629503
47	protein kinase C signaling (GO:0070528)	3.56576561
48	demethylation (GO:0070988)	3.55318826
49	regulation of double-strand break repair via homologous recombination (GO:0010569)	3.54035876
50	protein K63-linked deubiquitination (GO:0070536)	3.51589354
51	piRNA metabolic process (GO:0034587)	3.49355336
52	positive regulation of digestive system process (GO:0060456)	3.45833718
53	regulation of defense response to virus by host (GO:0050691)	3.44062020
54	drinking behavior (GO:0042756)	3.43837990
55	negative regulation of digestive system process (GO:0060457)	3.40944598
56	regulation of histone H3-K9 methylation (GO:0051570)	3.39384488
57	striated muscle atrophy (GO:0014891)	3.36290947
58	regulation of mRNA splicing, via spliceosome (GO:0048024)	3.33786389
59	negative regulation of reproductive process (GO:2000242)	3.30926211
60	epithelial cilium movement (GO:0003351)	3.29847266
61	RNA localization (GO:0006403)	3.29218632
62	cilium movement (GO:0003341)	3.25311970
63	regulation of penile erection (GO:0060405)	3.24656863
64	meiotic cell cycle process (GO:1903046)	3.23563558
65	regulation of meiotic cell cycle (GO:0051445)	3.22852482
66	negative regulation of smooth muscle cell differentiation (GO:0051151)	3.22369359
67	sperm-egg recognition (GO:0035036)	3.21265428
68	calcium ion-dependent exocytosis (GO:0017156)	3.19603212
69	meiotic cell cycle (GO:0051321)	3.16464410
70	negative regulation of histone modification (GO:0031057)	3.14395716
71	phosphate ion homeostasis (GO:0055062)	3.13987150
72	trivalent inorganic anion homeostasis (GO:0072506)	3.13987150
73	positive regulation of prostaglandin secretion (GO:0032308)	3.13383199
74	microtubule severing (GO:0051013)	3.11355461
75	regulation of receptor binding (GO:1900120)	3.10569154
76	poly(A)+ mRNA export from nucleus (GO:0016973)	3.07008467
77	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	3.06878988
78	sleep (GO:0030431)	3.02697130
79	cellular anion homeostasis (GO:0030002)	3.01043319
80	regulation of DNA endoreduplication (GO:0032875)	2.99353011
81	positive regulation of humoral immune response (GO:0002922)	2.92527099
82	hyperosmotic salinity response (GO:0042538)	2.92248705
83	muscle atrophy (GO:0014889)	2.91805091
84	regulation of mRNA processing (GO:0050684)	2.91063852
85	spermatid development (GO:0007286)	2.89254836
86	positive regulation of reproductive process (GO:2000243)	2.88568172
87	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.87717471
88	exocrine pancreas development (GO:0031017)	2.86466562
89	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.86099394
90	negative regulation of chromatin modification (GO:1903309)	2.85948135
91	regulation of female gonad development (GO:2000194)	2.83703445
92	ventricular system development (GO:0021591)	2.81204392
93	indolalkylamine metabolic process (GO:0006586)	2.80954690
94	centrosome duplication (GO:0051298)	2.76822108
95	maturation of SSU-rRNA (GO:0030490)	2.75595412
96	tryptophan catabolic process (GO:0006569)	2.74973437
97	indole-containing compound catabolic process (GO:0042436)	2.74973437
98	indolalkylamine catabolic process (GO:0046218)	2.74973437
99	regulation of neurotransmitter uptake (GO:0051580)	2.73778027
100	histone H3-K9 demethylation (GO:0033169)	19.7141340

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	8.69174001
2	EZH2_22144423_ChIP-Seq_EOC_Human	5.60944003
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.25571753
4	VDR_22108803_ChIP-Seq_LS180_Human	3.85828050
5	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.65421779
6	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.35215589
7	GBX2_23144817_ChIP-Seq_PC3_Human	2.92678059
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.91961644
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.73327867
10	IRF1_19129219_ChIP-ChIP_H3396_Human	2.33190447
11	TP63_19390658_ChIP-ChIP_HaCaT_Human	2.27473827
12	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	2.23166567
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.21088562
14	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.14187071
15	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.06934388
16	TOP2B_26459242_ChIP-Seq_MCF-7_Human	2.06675239
17	AUTS2_25519132_ChIP-Seq_293T-REX_Human	2.05316560
18	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.92032650
19	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.91950699
20	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.89976997
21	TCF4_23295773_ChIP-Seq_U87_Human	1.89047472
22	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.86375060
23	RXR_22108803_ChIP-Seq_LS180_Human	1.83079037
24	SMAD4_21799915_ChIP-Seq_A2780_Human	1.77937898
25	CBP_21632823_ChIP-Seq_H3396_Human	1.71145803
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.69380391
27	RNF2_27304074_Chip-Seq_NSC_Mouse	1.68249734
28	STAT3_23295773_ChIP-Seq_U87_Human	1.64552243
29	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.64045733
30	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.63169894
31	AR_21909140_ChIP-Seq_LNCAP_Human	1.63168517
32	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.60984658
33	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.60128060
34	P300_19829295_ChIP-Seq_ESCs_Human	1.59983266
35	AR_25329375_ChIP-Seq_VCAP_Human	1.58170486
36	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.56769803
37	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.53856633
38	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	1.53390162
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52047992
40	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.50653326
41	MYC_18940864_ChIP-ChIP_HL60_Human	1.49982927
42	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.48463256
43	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.46774101
44	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.46056301
45	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.45355419
46	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.45226486
47	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.44797555
48	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.43350790
49	TAF15_26573619_Chip-Seq_HEK293_Human	1.43169011
50	TCF4_22108803_ChIP-Seq_LS180_Human	1.38608507
51	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.37671493
52	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.36767721
53	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.35554552
54	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.35317481
55	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.34406077
56	NCOR_22424771_ChIP-Seq_293T_Human	1.33484188
57	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.32778690
58	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.32677698
59	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.32533003
60	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.30248625
61	BCAT_22108803_ChIP-Seq_LS180_Human	1.30135943
62	GF1_26923725_Chip-Seq_HPCs_Mouse	1.29739944
63	GATA3_26560356_Chip-Seq_TH1_Human	1.29588452
64	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.25650424
65	GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.24804022
66	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.24578761
67	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.24482404
68	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24356012
69	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.23779047
70	SMRT_27268052_Chip-Seq_Bcells_Human	1.21513421
71	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.19356363
72	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.14711801
73	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.12281253
74	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.11720494
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.10929882
76	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.09026382
77	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.09019239
78	TP63_23658742_ChIP-Seq_EP156T_Human	1.05839476
79	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.05784814
80	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.04969501
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.04112179
82	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.03239726
83	AR_21572438_ChIP-Seq_LNCaP_Human	1.02927349
84	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.99673208
85	ESET_19884257_ChIP-Seq_ESCs_Mouse	0.95366104
86	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.95115998
87	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.94772196
88	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.94683009
89	TP53_22573176_ChIP-Seq_HFKS_Human	0.92215936
90	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.92013214
91	CBP_20019798_ChIP-Seq_JUKART_Human	0.90758831
92	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.90758831
93	RAC3_21632823_ChIP-Seq_H3396_Human	0.90333013
94	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.89962021
95	ZNF274_21170338_ChIP-Seq_K562_Hela	0.88571554
96	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	0.88086359
97	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	0.88086359
98	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	0.88086359
99	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.87400524
100	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.84858960

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	6.33350123
2	MP0003283_abnormal_digestive_organ	5.17602022
3	MP0003950_abnormal_plasma_membrane	4.14774701
4	MP0009379_abnormal_foot_pigmentation	4.00545666
5	MP0000678_abnormal_parathyroid_gland	3.90636393
6	MP0003693_abnormal_embryo_hatching	3.49357742
7	MP0002160_abnormal_reproductive_system	3.37595423
8	MP0003136_yellow_coat_color	3.16132661
9	MP0000427_abnormal_hair_cycle	3.00880698
10	MP0005410_abnormal_fertilization	3.00730417
11	MP0009840_abnormal_foam_cell	2.74978937
12	MP0006276_abnormal_autonomic_nervous	2.54508064
13	MP0001929_abnormal_gametogenesis	2.40091086
14	MP0001502_abnormal_circadian_rhythm	2.34047984
15	MP0008058_abnormal_DNA_repair	2.32441309
16	MP0005360_urolithiasis	2.24864504
17	MP0005220_abnormal_exocrine_pancreas	2.23918987
18	MP0001664_abnormal_digestion	2.12273228
19	MP0003119_abnormal_digestive_system	2.07862340
20	MP0002210_abnormal_sex_determination	2.07167523
21	MP0003183_abnormal_peptide_metabolism	1.96317343
22	MP0003699_abnormal_female_reproductive	1.96208378
23	MP0005647_abnormal_sex_gland	1.93379529
24	MP0002751_abnormal_autonomic_nervous	1.89122239
25	MP0003868_abnormal_feces_composition	1.86422844
26	MP0003866_abnormal_defecation	1.83543600
27	MP0001666_abnormal_nutrient_absorption	1.79304829
28	MP0000049_abnormal_middle_ear	1.75746668
29	MP0005389_reproductive_system_phenotype	1.70644161
30	MP0003890_abnormal_embryonic-extraembry	1.68496749
31	MP0008877_abnormal_DNA_methylation	1.61531487
32	MP0005646_abnormal_pituitary_gland	1.49398641
33	MP0000653_abnormal_sex_gland	1.48899072
34	MP0010094_abnormal_chromosome_stability	1.46598147
35	MP0003718_maternal_effect	1.44867997
36	MP0003698_abnormal_male_reproductive	1.38523272
37	MP0004233_abnormal_muscle_weight	1.35161702
38	MP0004043_abnormal_pH_regulation	1.34272619
39	MP0000470_abnormal_stomach_morphology	1.29652841
40	MP0003938_abnormal_ear_development	1.28090398
41	MP0001119_abnormal_female_reproductive	1.25065283
42	MP0002161_abnormal_fertility/fecundity	1.20448587
43	MP0001145_abnormal_male_reproductive	1.17422621
44	MP0006072_abnormal_retinal_apoptosis	1.13610556
45	MP0002277_abnormal_respiratory_mucosa	1.11279185
46	MP0003077_abnormal_cell_cycle	1.10772604
47	MP0003936_abnormal_reproductive_system	1.10452825
48	MP0001730_embryonic_growth_arrest	1.07453341
49	MP0002102_abnormal_ear_morphology	1.02558040
50	MP0003121_genomic_imprinting	1.01296140
51	MP0000230_abnormal_systemic_arterial	1.00400445
52	MP0001440_abnormal_grooming_behavior	1.00275024
53	MP0002090_abnormal_vision	0.99340754
54	MP0010307_abnormal_tumor_latency	0.99085844
55	MP0005076_abnormal_cell_differentiation	0.98567109
56	MP0000372_irregular_coat_pigmentation	0.98429086
57	MP0000631_abnormal_neuroendocrine_gland	0.96660366
58	MP0002163_abnormal_gland_morphology	0.96056384
59	MP0001286_abnormal_eye_development	0.94335195
60	MP0002184_abnormal_innervation	0.92209426
61	MP0000778_abnormal_nervous_system	0.91605229
62	MP0002396_abnormal_hematopoietic_system	0.90171294
63	MP0004742_abnormal_vestibular_system	0.88458751
64	MP0002229_neurodegeneration	0.84263604
65	MP0001501_abnormal_sleep_pattern	0.83848543
66	MP0000534_abnormal_ureter_morphology	0.83707637
67	MP0003879_abnormal_hair_cell	0.82752917
68	MP0002272_abnormal_nervous_system	0.80320376
69	MP0000462_abnormal_digestive_system	0.78904106
70	MP0000428_abnormal_craniofacial_morphol	0.77705056
71	MP0005551_abnormal_eye_electrophysiolog	0.75504190
72	MP0000350_abnormal_cell_proliferation	0.75466931
73	MP0002249_abnormal_larynx_morphology	0.72958571
74	MP0005623_abnormal_meninges_morphology	0.72177140
75	MP0002127_abnormal_cardiovascular_syste	0.72080656
76	MP0003959_abnormal_lean_body	0.67845541
77	MP0000647_abnormal_sebaceous_gland	0.63325216
78	MP0002693_abnormal_pancreas_physiology	0.62533765
79	MP0003111_abnormal_nucleus_morphology	0.62354551
80	MP0004270_analgesia	0.60687998
81	MP0009384_cardiac_valve_regurgitation	0.60499792
82	MP0009745_abnormal_behavioral_response	0.60225550
83	MP0009765_abnormal_xenobiotic_induced	0.59708462
84	MP0005253_abnormal_eye_physiology	0.59701271
85	MP0004859_abnormal_synaptic_plasticity	0.58615340
86	MP0005499_abnormal_olfactory_system	0.57492621
87	MP0005394_taste/olfaction_phenotype	0.57492621
88	MP0001944_abnormal_pancreas_morphology	0.57110853
89	MP0001881_abnormal_mammary_gland	0.56587054
90	MP0004381_abnormal_hair_follicle	0.56341079
91	MP0005334_abnormal_fat_pad	0.56189526
92	MP0000569_abnormal_digit_pigmentation	0.55403628
93	MP0009703_decreased_birth_body	0.54787645
94	MP0002067_abnormal_sensory_capabilities	0.53537148
95	MP0002095_abnormal_skin_pigmentation	0.50702884
96	MP0008961_abnormal_basal_metabolism	0.50459664
97	MP0002085_abnormal_embryonic_tissue	0.49867331
98	MP0004142_abnormal_muscle_tone	0.49760803
99	MP0005645_abnormal_hypothalamus_physiol	0.49709048
100	MP0005310_abnormal_salivary_gland	0.48964647

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature ovarian failure (HP:0008209)	7.82994444
2	Median cleft lip (HP:0000161)	5.42762015
3	Aplasia/Hypoplasia of the tibia (HP:0005772)	4.76000748
4	Short tibia (HP:0005736)	4.72541837
5	Microglossia (HP:0000171)	4.57932471
6	Oligodactyly (hands) (HP:0001180)	4.36609035
7	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	4.24539967
8	Abnormal number of incisors (HP:0011064)	4.16228337
9	Atonic seizures (HP:0010819)	4.11735158
10	Abnormal auditory evoked potentials (HP:0006958)	4.07670769
11	Abnormality of the nasal septum (HP:0000419)	4.02679188
12	Facial cleft (HP:0002006)	3.88953279
13	Congenital sensorineural hearing impairment (HP:0008527)	3.70942245
14	Tetany (HP:0001281)	3.68223807
15	Impulsivity (HP:0100710)	3.57171174
16	Amelogenesis imperfecta (HP:0000705)	3.55664756
17	Hyperphosphatemia (HP:0002905)	3.52529856
18	Metaphyseal dysplasia (HP:0100255)	3.46436379
19	Abdominal situs inversus (HP:0003363)	3.46008927
20	Abnormality of abdominal situs (HP:0011620)	3.46008927
21	Tetraparesis (HP:0002273)	3.38203798
22	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.37632192
23	Short chin (HP:0000331)	3.23652649
24	Adrenal hypoplasia (HP:0000835)	3.11602456
25	Maternal diabetes (HP:0009800)	3.00248911
26	Abnormality of calcium-phosphate metabolism (HP:0100530)	2.97929189
27	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.94900010
28	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.94900010
29	Pancreatic fibrosis (HP:0100732)	2.92879137
30	Neurofibrillary tangles (HP:0002185)	2.83604081
31	Autoimmune thrombocytopenia (HP:0001973)	2.82940658
32	Oligodactyly (HP:0012165)	2.82333097
33	Submucous cleft hard palate (HP:0000176)	2.81309479
34	Abnormality of dental color (HP:0011073)	2.77135503
35	Male infertility (HP:0003251)	2.75261961
36	Abnormality of the corticospinal tract (HP:0002492)	2.69865116
37	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.66158750
38	Loss of speech (HP:0002371)	2.65935668
39	Abnormality of the labia minora (HP:0012880)	2.57856659
40	Glossoptosis (HP:0000162)	2.54251032
41	Abnormal ciliary motility (HP:0012262)	2.50396328
42	Abnormality of lateral ventricle (HP:0030047)	2.48790074
43	Microretrognathia (HP:0000308)	2.45956741
44	Partial agenesis of the corpus callosum (HP:0001338)	2.45315759
45	Abnormality of the incisor (HP:0000676)	2.44078422
46	Type I diabetes mellitus (HP:0100651)	2.38493768
47	Ectopic kidney (HP:0000086)	2.37030883
48	Abnormal pancreas size (HP:0012094)	2.23928670
49	Anhidrosis (HP:0000970)	2.20533258
50	Abnormality of chromosome stability (HP:0003220)	2.19719755
51	Abnormal respiratory motile cilium physiology (HP:0012261)	2.16548523
52	Spinal muscular atrophy (HP:0007269)	2.15245248
53	Multiple enchondromatosis (HP:0005701)	2.12949119
54	Exertional dyspnea (HP:0002875)	2.11786668
55	Chromsome breakage (HP:0040012)	2.10852395
56	Prostate neoplasm (HP:0100787)	2.08912048
57	Fair hair (HP:0002286)	2.08799458
58	Myokymia (HP:0002411)	2.07694964
59	Hypophosphatemic rickets (HP:0004912)	2.07388781
60	Rhinitis (HP:0012384)	2.07158820
61	Anterior segment dysgenesis (HP:0007700)	2.04077976
62	Hypoplasia of the iris (HP:0007676)	2.03626589
63	Decreased subcutaneous fat (HP:0001002)	2.02447751
64	Autoimmune hemolytic anemia (HP:0001890)	2.00408191
65	Papillary thyroid carcinoma (HP:0002895)	1.97441341
66	Genital tract atresia (HP:0001827)	1.96819348
67	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.96007510
68	Absent/shortened dynein arms (HP:0200106)	1.96007510
69	Abnormality of the frontal sinuses (HP:0002687)	1.95391865
70	Optic nerve hypoplasia (HP:0000609)	1.90544378
71	Diastasis recti (HP:0001540)	1.90528237
72	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.90320493
73	Aplasia/Hypoplasia of the earlobes (HP:0009906)	1.89286315
74	Increased hepatocellular lipid droplets (HP:0006565)	1.89098708
75	Short middle phalanx of the 5th finger (HP:0004220)	1.87782808
76	Bony spicule pigmentary retinopathy (HP:0007737)	1.86229230
77	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.85830735
78	Disproportionate short-trunk short stature (HP:0003521)	1.85553208
79	Reticulocytopenia (HP:0001896)	1.84648477
80	Hypoplasia of the radius (HP:0002984)	1.82997847
81	Renal Fanconi syndrome (HP:0001994)	1.81378203
82	Hypoventilation (HP:0002791)	1.81312885
83	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.79432540
84	Diaphragmatic weakness (HP:0009113)	1.78817948
85	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.74845120
86	Spastic diplegia (HP:0001264)	1.74551605
87	Preaxial hand polydactyly (HP:0001177)	1.74172665
88	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.73985456
89	Apathy (HP:0000741)	1.72827254
90	Short thumb (HP:0009778)	1.71557236
91	Chronic bronchitis (HP:0004469)	1.71397258
92	Genu varum (HP:0002970)	1.71190265
93	Neonatal onset (HP:0003623)	1.70837141
94	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.70476709
95	Abnormality of purine metabolism (HP:0004352)	1.70089673
96	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.70052009
97	Absent thumb (HP:0009777)	1.69231710
98	Mesangial abnormality (HP:0001966)	1.68277810
99	Gaze-evoked nystagmus (HP:0000640)	1.67564452
100	Facial hemangioma (HP:0000329)	1.65797850

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK16	6.95745291
2	CDK12	4.47329224
3	TNIK	4.25539923
4	CDK19	3.27740448
5	PLK4	3.21461364
6	TAOK3	3.00856631
7	AURKA	2.81530679
8	STK39	2.47186394
9	ICK	2.31085224
10	VRK1	2.26548277
11	ZAK	2.21444800
12	TLK1	2.19786705
13	LATS2	2.12168200
14	TEC	1.89273830
15	NLK	1.84227644
16	MAP2K3	1.79442300
17	CDC7	1.74254526
18	PBK	1.71956132
19	ACVR1B	1.71629909
20	SRPK1	1.58046671
21	TESK2	1.52716211
22	BMPR1B	1.50177026
23	TTK	1.49222326
24	MAP3K3	1.45261271
25	EPHA4	1.42054861
26	NUAK1	1.36390021
27	WNK1	1.35780903
28	CHEK2	1.34008742
29	LATS1	1.27547014
30	PKN1	1.17927638
31	STK24	1.17011367
32	ARAF	1.16061527
33	OXSR1	1.15013673
34	AURKB	1.11515255
35	SGK2	1.07913592
36	MARK2	1.04202719
37	MELK	0.97413357
38	PIM2	0.92696742
39	PLK1	0.90005849
40	WNK4	0.89243432
41	TRIM28	0.87438810
42	BRAF	0.85829989
43	PLK2	0.83945789
44	FRK	0.83570352
45	PIK3CA	0.80484403
46	GRK7	0.78579234
47	STK38L	0.77734679
48	MAPK13	0.75441833
49	VRK2	0.72784782
50	CAMK4	0.69494680
51	STK3	0.65220087
52	PIM1	0.62889151
53	CHEK1	0.62815024
54	CDK7	0.56944268
55	MAPKAPK2	0.56688461
56	CSNK1E	0.55297953
57	GRK5	0.54446343
58	CAMK1D	0.52471475
59	RAF1	0.51933729
60	SGK223	0.51412316
61	SGK494	0.51412316
62	PIK3CG	0.50984923
63	SGK3	0.50209632
64	GRK1	0.49844022
65	MOS	0.49814760
66	CSNK1D	0.47791211
67	TNK2	0.46711444
68	DMPK	0.46658883
69	CAMK1	0.45786464
70	CSNK1G1	0.45388796
71	IRAK1	0.42934418
72	PRKD1	0.42585351
73	ILK	0.42549327
74	PAK1	0.41885553
75	CDK2	0.40917439
76	PRKACA	0.39151829
77	MTOR	0.38040267
78	BUB1	0.36803786
79	ATM	0.36438649
80	STK4	0.36069296
81	JAK3	0.34913541
82	RPS6KA5	0.32090731
83	CDK1	0.31803860
84	PRKACB	0.30518001
85	MAP3K5	0.29865107
86	TGFBR1	0.29118889
87	CDK5	0.26337956
88	TBK1	0.23593443
89	RET	0.23148057
90	TYRO3	0.23080358
91	ADRBK2	0.22462383
92	PLK3	0.21787804
93	GSK3B	0.21637670
94	CAMK2A	0.21625620
95	PRKG1	0.20287734
96	AKT2	0.20256335
97	RPS6KA3	0.19384161
98	PDK1	0.19291917
99	CSNK2A1	0.18535802
100	ATR	0.18259374

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	7.74359086
2	Dorso-ventral axis formation_Homo sapiens_hsa04320	3.65601151
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.99159201
4	Mismatch repair_Homo sapiens_hsa03430	2.85935671
5	Ribosome_Homo sapiens_hsa03010	2.82143798
6	Bile secretion_Homo sapiens_hsa04976	2.58930580
7	Basal transcription factors_Homo sapiens_hsa03022	2.53131429
8	Homologous recombination_Homo sapiens_hsa03440	2.37355556
9	Sulfur metabolism_Homo sapiens_hsa00920	2.29587558
10	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.29443060
11	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.91891215
12	Non-homologous end-joining_Homo sapiens_hsa03450	1.89228189
13	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.81317884
14	Fanconi anemia pathway_Homo sapiens_hsa03460	1.77007057
15	Phototransduction_Homo sapiens_hsa04744	1.75592760
16	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.72514293
17	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.66274996
18	Tryptophan metabolism_Homo sapiens_hsa00380	1.65498054
19	mRNA surveillance pathway_Homo sapiens_hsa03015	1.60186399
20	Oocyte meiosis_Homo sapiens_hsa04114	1.58639983
21	Linoleic acid metabolism_Homo sapiens_hsa00591	1.57773500
22	Retinol metabolism_Homo sapiens_hsa00830	1.50675970
23	RNA transport_Homo sapiens_hsa03013	1.48976662
24	Olfactory transduction_Homo sapiens_hsa04740	1.45819754
25	RNA polymerase_Homo sapiens_hsa03020	1.34644305
26	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.29641044
27	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.26315728
28	Alcoholism_Homo sapiens_hsa05034	1.16256603
29	Insulin secretion_Homo sapiens_hsa04911	1.14567840
30	Serotonergic synapse_Homo sapiens_hsa04726	1.10263363
31	RNA degradation_Homo sapiens_hsa03018	1.07262770
32	Chemical carcinogenesis_Homo sapiens_hsa05204	1.01911098
33	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.92278983
34	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.91858859
35	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.88056761
36	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.87858997
37	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.86870052
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.84093833
39	Cholinergic synapse_Homo sapiens_hsa04725	0.83801948
40	DNA replication_Homo sapiens_hsa03030	0.83187813
41	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.82427869
42	GABAergic synapse_Homo sapiens_hsa04727	0.80915029
43	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.78944990
44	Circadian rhythm_Homo sapiens_hsa04710	0.78059695
45	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.72437081
46	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.71056953
47	Lysine degradation_Homo sapiens_hsa00310	0.68771628
48	Nicotine addiction_Homo sapiens_hsa05033	0.67305290
49	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.66753055
50	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.66576057
51	Morphine addiction_Homo sapiens_hsa05032	0.65778299
52	Cell cycle_Homo sapiens_hsa04110	0.64847165
53	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.64805935
54	Colorectal cancer_Homo sapiens_hsa05210	0.63883388
55	cAMP signaling pathway_Homo sapiens_hsa04024	0.63297403
56	Purine metabolism_Homo sapiens_hsa00230	0.61783997
57	Gap junction_Homo sapiens_hsa04540	0.61161395
58	Cocaine addiction_Homo sapiens_hsa05030	0.59820850
59	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.58995542
60	Pyrimidine metabolism_Homo sapiens_hsa00240	0.58443431
61	Tight junction_Homo sapiens_hsa04530	0.57745015
62	Spliceosome_Homo sapiens_hsa03040	0.57305778
63	Herpes simplex infection_Homo sapiens_hsa05168	0.56532220
64	Dopaminergic synapse_Homo sapiens_hsa04728	0.55891215
65	p53 signaling pathway_Homo sapiens_hsa04115	0.55681182
66	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.51369273
67	Taste transduction_Homo sapiens_hsa04742	0.48909139
68	Calcium signaling pathway_Homo sapiens_hsa04020	0.47209937
69	Hippo signaling pathway_Homo sapiens_hsa04390	0.46072170
70	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.44530952
71	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.43588558
72	Circadian entrainment_Homo sapiens_hsa04713	0.43457428
73	Wnt signaling pathway_Homo sapiens_hsa04310	0.42620604
74	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.39886567
75	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.32970374
76	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.31549772
77	Huntingtons disease_Homo sapiens_hsa05016	0.31425192
78	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.31187022
79	Legionellosis_Homo sapiens_hsa05134	0.31133017
80	Regulation of autophagy_Homo sapiens_hsa04140	0.30668655
81	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.30443429
82	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.29732015
83	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.28873370
84	Salivary secretion_Homo sapiens_hsa04970	0.27919746
85	Basal cell carcinoma_Homo sapiens_hsa05217	0.26839685
86	Pancreatic secretion_Homo sapiens_hsa04972	0.26756794
87	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.26624327
88	PPAR signaling pathway_Homo sapiens_hsa03320	0.26418921
89	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.26296002
90	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.26237200
91	Nucleotide excision repair_Homo sapiens_hsa03420	0.24649038
92	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.24585101
93	Viral carcinogenesis_Homo sapiens_hsa05203	0.22586096
94	Apoptosis_Homo sapiens_hsa04210	0.22528063
95	ABC transporters_Homo sapiens_hsa02010	0.20015327
96	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.18821645
97	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.18615862
98	Folate biosynthesis_Homo sapiens_hsa00790	0.18310026
99	Estrogen signaling pathway_Homo sapiens_hsa04915	0.18050292
100	Glutamatergic synapse_Homo sapiens_hsa04724	0.16268049

TRIM49D1

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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