ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	histone H3-K9 demethylation (GO:0033169)	7.55478065
2	male meiosis I (GO:0007141)	6.34248592
3	meiosis I (GO:0007127)	5.47041680
4	multicellular organism reproduction (GO:0032504)	5.29575731
5	regulation of acrosome reaction (GO:0060046)	5.28712949
6	regulation of female receptivity (GO:0045924)	4.71734654
7	pseudouridine synthesis (GO:0001522)	4.63488447
8	transcription from mitochondrial promoter (GO:0006390)	4.54997779
9	mitotic metaphase plate congression (GO:0007080)	4.42370029
10	oocyte development (GO:0048599)	4.29581427
11	positive regulation of uterine smooth muscle contraction (GO:0070474)	4.29080595
12	aggressive behavior (GO:0002118)	4.14230330
13	regulation of RIG-I signaling pathway (GO:0039535)	4.11198177
14	regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	4.01668461
15	female mating behavior (GO:0060180)	4.00871930
16	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	31.7478148
17	male meiosis (GO:0007140)	3.97300675
18	positive regulation of catecholamine secretion (GO:0033605)	3.97269998
19	regulation of DNA methylation (GO:0044030)	3.93360288
20	negative regulation of smooth muscle cell differentiation (GO:0051151)	3.83357063
21	regulation of mitotic spindle organization (GO:0060236)	3.72891900
22	regulation of spindle organization (GO:0090224)	3.61249164
23	regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)	3.58093492
24	synaptonemal complex organization (GO:0070193)	3.51023182
25	reproduction (GO:0000003)	3.42945883
26	mitotic chromosome condensation (GO:0007076)	3.41702986
27	regulation of exit from mitosis (GO:0007096)	3.32729275
28	histone lysine demethylation (GO:0070076)	3.31809166
29	synaptonemal complex assembly (GO:0007130)	3.28938561
30	metaphase plate congression (GO:0051310)	3.28095705
31	regulation of uterine smooth muscle contraction (GO:0070472)	3.23232840
32	histone demethylation (GO:0016577)	3.22384275
33	protein kinase C signaling (GO:0070528)	3.18968302
34	regulation of female gonad development (GO:2000194)	3.18479507
35	negative regulation of Ras GTPase activity (GO:0034261)	3.17072694
36	regulation of cytokine production involved in inflammatory response (GO:1900015)	3.13682484
37	regulation of G0 to G1 transition (GO:0070316)	3.09822719
38	single fertilization (GO:0007338)	3.08907953
39	positive regulation of digestive system process (GO:0060456)	3.05285157
40	negative regulation of reproductive process (GO:2000242)	3.03803713
41	hyperosmotic salinity response (GO:0042538)	3.03670715
42	response to UV-C (GO:0010225)	3.03457821
43	N-terminal protein amino acid acetylation (GO:0006474)	3.03368308
44	skeletal muscle tissue regeneration (GO:0043403)	3.00681421
45	drinking behavior (GO:0042756)	3.00606186
46	regulation of retinoic acid receptor signaling pathway (GO:0048385)	26.5260086
47	regulation of histone H3-K9 methylation (GO:0051570)	2.97415474
48	positive regulation of meiotic cell cycle (GO:0051446)	2.93015013
49	meiotic nuclear division (GO:0007126)	2.92372135
50	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	2.91975487
51	positive regulation of histone H3-K4 methylation (GO:0051571)	2.88035028
52	positive regulation of meiosis (GO:0045836)	2.87784636
53	meiotic cell cycle (GO:0051321)	2.86645686
54	sleep (GO:0030431)	2.85896583
55	protein demethylation (GO:0006482)	2.85280329
56	protein dealkylation (GO:0008214)	2.85280329
57	acrosome reaction (GO:0007340)	2.84588768
58	meiotic cell cycle process (GO:1903046)	2.84178692
59	regulation of penile erection (GO:0060405)	2.83895639
60	outer ear morphogenesis (GO:0042473)	2.81204935
61	positive regulation of prostaglandin secretion (GO:0032308)	2.79240823
62	protein K6-linked ubiquitination (GO:0085020)	2.78898443
63	piRNA metabolic process (GO:0034587)	2.76198496
64	positive regulation of humoral immune response (GO:0002922)	2.75421995
65	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.72789803
66	negative regulation of digestive system process (GO:0060457)	2.70330370
67	retinal cone cell development (GO:0046549)	2.70093486
68	binding of sperm to zona pellucida (GO:0007339)	2.69991218
69	chromosome organization involved in meiosis (GO:0070192)	2.66986411
70	mitochondrial RNA metabolic process (GO:0000959)	2.66518889
71	snRNA transcription (GO:0009301)	2.65898771
72	fertilization (GO:0009566)	2.62712185
73	positive regulation of histone methylation (GO:0031062)	2.60818670
74	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.58679120
75	maturation of SSU-rRNA (GO:0030490)	2.57575273
76	cellular biogenic amine biosynthetic process (GO:0042401)	2.52382235
77	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.51164328
78	gonadal mesoderm development (GO:0007506)	2.50169339
79	motile cilium assembly (GO:0044458)	2.48924594
80	polyamine biosynthetic process (GO:0006596)	2.46533131
81	chemosensory behavior (GO:0007635)	2.45426133
82	negative regulation of histone modification (GO:0031057)	2.43218871
83	positive regulation of cAMP-mediated signaling (GO:0043950)	2.42212627
84	sperm-egg recognition (GO:0035036)	2.42093766
85	sensory perception of smell (GO:0007608)	2.41892950
86	positive regulation of protein homooligomerization (GO:0032464)	2.38932459
87	protein K48-linked deubiquitination (GO:0071108)	2.38241646
88	glycine transport (GO:0015816)	2.38040087
89	oocyte maturation (GO:0001556)	2.36515107
90	maternal behavior (GO:0042711)	2.36453422
91	regulation of histone methylation (GO:0031060)	2.36037131
92	regulation of prostaglandin secretion (GO:0032306)	2.34634366
93	amine biosynthetic process (GO:0009309)	2.33105760
94	attachment of spindle microtubules to kinetochore (GO:0008608)	2.32894618
95	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	2.32700007
96	autophagic vacuole assembly (GO:0000045)	2.32422601
97	rRNA modification (GO:0000154)	2.28562009
98	DNA methylation involved in gamete generation (GO:0043046)	2.27674410
99	regulation of helicase activity (GO:0051095)	2.25370595
100	positive regulation of reproductive process (GO:2000243)	2.20344903

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.93329986
2	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	5.48505836
3	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.19817882
4	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.33065851
5	NOTCH1_21737748_ChIP-Seq_TLL_Human	4.32926464
6	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	3.83883564
7	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	3.83883564
8	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	3.83883564
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.41729327
10	ZNF274_21170338_ChIP-Seq_K562_Hela	2.97378773
11	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.53179549
12	IGF1R_20145208_ChIP-Seq_DFB_Human	2.51305861
13	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.49030344
14	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	2.48997711
15	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.47392350
16	GBX2_23144817_ChIP-Seq_PC3_Human	2.23815170
17	IRF1_19129219_ChIP-ChIP_H3396_Human	2.21564075
18	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.05290758
19	E2F7_22180533_ChIP-Seq_HELA_Human	2.00814200
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.98729543
21	VDR_22108803_ChIP-Seq_LS180_Human	1.95431818
22	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.95194976
23	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.87280441
24	TBL1_22424771_ChIP-Seq_293T_Human	1.83220580
25	ETV1_20927104_ChIP-Seq_GIST48_Human	1.82010057
26	RBPJ_21746931_ChIP-Seq_IB4_Human	1.77620975
27	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.72388127
28	PHF8_20622853_ChIP-Seq_HELA_Human	1.69062889
29	NFYB_21822215_ChIP-Seq_K562_Human	1.61118930
30	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.56886757
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.56548082
32	MYC_18940864_ChIP-ChIP_HL60_Human	1.53102038
33	RNF2_27304074_Chip-Seq_NSC_Mouse	1.53055242
34	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.49951279
35	P300_19829295_ChIP-Seq_ESCs_Human	1.42943320
36	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.41954049
37	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.38884034
38	EWS_26573619_Chip-Seq_HEK293_Human	1.38820604
39	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.38673566
40	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34602457
41	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.32948492
42	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.32125249
43	TAF15_26573619_Chip-Seq_HEK293_Human	1.29757444
44	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.27232683
45	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.26135935
46	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.24306078
47	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.23489785
48	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.19459085
49	NCOR_22424771_ChIP-Seq_293T_Human	1.18815489
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.17705585
51	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17694067
52	RAC3_21632823_ChIP-Seq_H3396_Human	1.16043489
53	TP53_22573176_ChIP-Seq_HFKS_Human	1.15914091
54	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.15205651
55	STAT3_23295773_ChIP-Seq_U87_Human	1.14869119
56	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.13350149
57	TCF4_23295773_ChIP-Seq_U87_Human	1.12987941
58	NFYA_21822215_ChIP-Seq_K562_Human	1.12439266
59	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.11267802
60	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.10729496
61	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.10410828
62	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.09920449
63	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.08972655
64	AR_21909140_ChIP-Seq_LNCAP_Human	1.08971242
65	GATA3_26560356_Chip-Seq_TH1_Human	1.08148212
66	NANOG_20526341_ChIP-Seq_ESCs_Human	1.07138257
67	STAT1_20625510_ChIP-Seq_HELA_Human	1.06640988
68	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.05986768
69	CTCF_20526341_ChIP-Seq_ESCs_Human	1.03109824
70	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.02953936
71	REST_21632747_ChIP-Seq_MESCs_Mouse	1.00395877
72	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.99208356
73	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.96679919
74	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.96543072
75	SMRT_27268052_Chip-Seq_Bcells_Human	0.94978303
76	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.94671595
77	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.94175137
78	CBP_21632823_ChIP-Seq_H3396_Human	0.93912143
79	AR_25329375_ChIP-Seq_VCAP_Human	0.93845361
80	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.93794157
81	TCF4_22108803_ChIP-Seq_LS180_Human	0.91327890
82	MYC_19829295_ChIP-Seq_ESCs_Human	0.90541100
83	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	0.90332641
84	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.89894574
85	HTT_18923047_ChIP-ChIP_STHdh_Human	0.88805200
86	SOX2_19829295_ChIP-Seq_ESCs_Human	0.86664882
87	NANOG_19829295_ChIP-Seq_ESCs_Human	0.86664882
88	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.84798031
89	AR_21572438_ChIP-Seq_LNCaP_Human	0.84239549
90	TTF2_22483619_ChIP-Seq_HELA_Human	0.83526216
91	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.82408491
92	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.82364189
93	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.82109230
94	P53_21459846_ChIP-Seq_SAOS-2_Human	0.80741913
95	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.80593677
96	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.80566236
97	BCAT_22108803_ChIP-Seq_LS180_Human	0.79923934
98	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.78947941
99	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.78361330
100	SCL_19346495_ChIP-Seq_HPC-7_Human	0.77834588

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	4.91523862
2	MP0001986_abnormal_taste_sensitivity	4.25586705
3	MP0005423_abnormal_somatic_nervous	4.12413868
4	MP0003718_maternal_effect	4.09471439
5	MP0003693_abnormal_embryo_hatching	3.78129021
6	MP0009379_abnormal_foot_pigmentation	2.94557436
7	MP0002160_abnormal_reproductive_system	2.69527530
8	MP0003136_yellow_coat_color	2.62710448
9	MP0000569_abnormal_digit_pigmentation	2.47143825
10	MP0005410_abnormal_fertilization	2.40590511
11	MP0006276_abnormal_autonomic_nervous	2.38473644
12	MP0008058_abnormal_DNA_repair	2.34011028
13	MP0001929_abnormal_gametogenesis	2.24608521
14	MP0005394_taste/olfaction_phenotype	2.23235895
15	MP0005499_abnormal_olfactory_system	2.23235895
16	MP0002210_abnormal_sex_determination	2.01550193
17	MP0003950_abnormal_plasma_membrane	1.90093750
18	MP0000049_abnormal_middle_ear	1.87625283
19	MP0003646_muscle_fatigue	1.87500971
20	MP0002127_abnormal_cardiovascular_syste	1.76934779
21	MP0008789_abnormal_olfactory_epithelium	1.70321917
22	MP0004957_abnormal_blastocyst_morpholog	1.70237970
23	MP0003879_abnormal_hair_cell	1.66293072
24	MP0002277_abnormal_respiratory_mucosa	1.66147995
25	MP0009046_muscle_twitch	1.65914093
26	MP0003699_abnormal_female_reproductive	1.65645566
27	MP0009840_abnormal_foam_cell	1.65573778
28	MP0002138_abnormal_hepatobiliary_system	1.63344900
29	MP0005647_abnormal_sex_gland	1.59935255
30	MP0005389_reproductive_system_phenotype	1.59854419
31	MP0005646_abnormal_pituitary_gland	1.54627938
32	MP0010094_abnormal_chromosome_stability	1.54408622
33	MP0005395_other_phenotype	1.54203032
34	MP0010307_abnormal_tumor_latency	1.53120396
35	MP0008877_abnormal_DNA_methylation	1.52984134
36	MP0003119_abnormal_digestive_system	1.52409768
37	MP0003698_abnormal_male_reproductive	1.46063587
38	MP0003077_abnormal_cell_cycle	1.45388733
39	MP0000653_abnormal_sex_gland	1.44817731
40	MP0003111_abnormal_nucleus_morphology	1.44515454
41	MP0000678_abnormal_parathyroid_gland	1.39523251
42	MP0001666_abnormal_nutrient_absorption	1.38580971
43	MP0002161_abnormal_fertility/fecundity	1.28386410
44	MP0001664_abnormal_digestion	1.22507821
45	MP0001730_embryonic_growth_arrest	1.22394868
46	MP0000566_synostosis	1.18363397
47	MP0010030_abnormal_orbit_morphology	1.17135014
48	MP0001145_abnormal_male_reproductive	1.17134373
49	MP0001968_abnormal_touch/_nociception	1.16265106
50	MP0003283_abnormal_digestive_organ	1.15970069
51	MP0005551_abnormal_eye_electrophysiolog	1.15856745
52	MP0003567_abnormal_fetal_cardiomyocyte	1.14439576
53	MP0008057_abnormal_DNA_replication	1.13936108
54	MP0005360_urolithiasis	1.11039393
55	MP0000631_abnormal_neuroendocrine_gland	1.11013081
56	MP0001485_abnormal_pinna_reflex	1.10237587
57	MP0003195_calcinosis	1.08180215
58	MP0002736_abnormal_nociception_after	1.07799364
59	MP0005174_abnormal_tail_pigmentation	1.06815188
60	MP0003938_abnormal_ear_development	1.04792635
61	MP0000015_abnormal_ear_pigmentation	1.03754268
62	MP0001963_abnormal_hearing_physiology	1.01358185
63	MP0001502_abnormal_circadian_rhythm	0.99874489
64	MP0001501_abnormal_sleep_pattern	0.96993786
65	MP0000462_abnormal_digestive_system	0.96375167
66	MP0002229_neurodegeneration	0.95282873
67	MP0000427_abnormal_hair_cycle	0.94899864
68	MP0005380_embryogenesis_phenotype	0.94700673
69	MP0001672_abnormal_embryogenesis/_devel	0.94700673
70	MP0002233_abnormal_nose_morphology	0.94219805
71	MP0001119_abnormal_female_reproductive	0.94190480
72	MP0006072_abnormal_retinal_apoptosis	0.92767292
73	MP0002102_abnormal_ear_morphology	0.91607307
74	MP0001440_abnormal_grooming_behavior	0.90756780
75	MP0002751_abnormal_autonomic_nervous	0.89479888
76	MP0003936_abnormal_reproductive_system	0.86572297
77	MP0001881_abnormal_mammary_gland	0.85768502
78	MP0000428_abnormal_craniofacial_morphol	0.84859073
79	MP0002272_abnormal_nervous_system	0.84503773
80	MP0006036_abnormal_mitochondrial_physio	0.83455777
81	MP0001545_abnormal_hematopoietic_system	0.81605213
82	MP0005397_hematopoietic_system_phenotyp	0.81605213
83	MP0009333_abnormal_splenocyte_physiolog	0.80205393
84	MP0008260_abnormal_autophagy	0.76354400
85	MP0000350_abnormal_cell_proliferation	0.76293870
86	MP0002095_abnormal_skin_pigmentation	0.74117850
87	MP0000026_abnormal_inner_ear	0.74087806
88	MP0003890_abnormal_embryonic-extraembry	0.73695440
89	MP0001293_anophthalmia	0.69847906
90	MP0002067_abnormal_sensory_capabilities	0.69030631
91	MP0000470_abnormal_stomach_morphology	0.68971280
92	MP0002735_abnormal_chemical_nociception	0.68896864
93	MP0005451_abnormal_body_composition	0.67903536
94	MP0004742_abnormal_vestibular_system	0.67454458
95	MP0000230_abnormal_systemic_arterial	0.66460842
96	MP0003183_abnormal_peptide_metabolism	0.65943825
97	MP0003866_abnormal_defecation	0.65344149
98	MP0003121_genomic_imprinting	0.65056130
99	MP0000372_irregular_coat_pigmentation	0.63058794
100	MP0002873_normal_phenotype	0.61682435

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Reticulocytopenia (HP:0001896)	5.73113373
2	Chromosomal breakage induced by crosslinking agents (HP:0003221)	5.65941628
3	Chromsome breakage (HP:0040012)	5.32260528
4	Male infertility (HP:0003251)	4.88917551
5	Abnormality of the renal collecting system (HP:0004742)	4.21265442
6	Duplicated collecting system (HP:0000081)	4.14617997
7	Hypercortisolism (HP:0001578)	4.13415481
8	Premature ovarian failure (HP:0008209)	4.07727376
9	Ureteral duplication (HP:0000073)	3.66838271
10	Ectopic kidney (HP:0000086)	3.60933292
11	Meckel diverticulum (HP:0002245)	3.46057196
12	Absent radius (HP:0003974)	3.45798516
13	Abnormal number of incisors (HP:0011064)	3.38632326
14	Abnormality of the ileum (HP:0001549)	3.30708502
15	Pancreatic fibrosis (HP:0100732)	3.30627698
16	Absent forearm bone (HP:0003953)	3.26560786
17	Aplasia involving forearm bones (HP:0009822)	3.26560786
18	Absent thumb (HP:0009777)	3.18322581
19	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.16223419
20	Aplasia/Hypoplasia of the uvula (HP:0010293)	3.15917473
21	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	3.15868530
22	Abnormality of the preputium (HP:0100587)	3.14915938
23	Bile duct proliferation (HP:0001408)	3.14870406
24	Abnormal biliary tract physiology (HP:0012439)	3.14870406
25	Abnormality of pyrimidine metabolism (HP:0004353)	2.99409973
26	Congenital stationary night blindness (HP:0007642)	2.91893587
27	Pancreatic cysts (HP:0001737)	2.88524363
28	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.88304824
29	Birth length less than 3rd percentile (HP:0003561)	2.86062529
30	Abnormality of midbrain morphology (HP:0002418)	2.85708289
31	Molar tooth sign on MRI (HP:0002419)	2.85708289
32	Abnormality of DNA repair (HP:0003254)	2.82752434
33	Limb dystonia (HP:0002451)	2.81883449
34	Hypergonadotropic hypogonadism (HP:0000815)	2.79815536
35	Clubbing of toes (HP:0100760)	2.77443893
36	Abnormal pancreas size (HP:0012094)	2.72211455
37	Abnormality of chromosome stability (HP:0003220)	2.70207934
38	Congenital sensorineural hearing impairment (HP:0008527)	2.66980131
39	Impaired smooth pursuit (HP:0007772)	2.66831395
40	Short tibia (HP:0005736)	2.66031039
41	Horseshoe kidney (HP:0000085)	2.60748004
42	True hermaphroditism (HP:0010459)	2.60244049
43	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.55980545
44	Impulsivity (HP:0100710)	2.54990285
45	Vacuolated lymphocytes (HP:0001922)	2.54610886
46	Dysautonomia (HP:0002459)	2.47797513
47	Abnormality of abdominal situs (HP:0011620)	2.44854304
48	Abdominal situs inversus (HP:0003363)	2.44854304
49	Constricted visual fields (HP:0001133)	2.36511388
50	Aplasia/hypoplasia of the uterus (HP:0008684)	2.33970555
51	Truncal obesity (HP:0001956)	2.32876429
52	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.32761970
53	Adrenal overactivity (HP:0002717)	2.31127957
54	Short thumb (HP:0009778)	2.30781756
55	Malnutrition (HP:0004395)	2.30164189
56	Febrile seizures (HP:0002373)	2.29907760
57	Patent foramen ovale (HP:0001655)	2.29905499
58	Fused cervical vertebrae (HP:0002949)	2.29738590
59	Supernumerary spleens (HP:0009799)	2.28407855
60	Stenosis of the external auditory canal (HP:0000402)	2.26395440
61	Hypophosphatemic rickets (HP:0004912)	2.23258546
62	Median cleft lip (HP:0000161)	2.20858962
63	Duplication of thumb phalanx (HP:0009942)	2.18793706
64	Facial cleft (HP:0002006)	2.17861915
65	Ileus (HP:0002595)	2.16741361
66	Partial agenesis of the corpus callosum (HP:0001338)	2.16658785
67	Hypoplasia of the fovea (HP:0007750)	2.14017648
68	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.14017648
69	Neurofibrillary tangles (HP:0002185)	2.13324559
70	Attenuation of retinal blood vessels (HP:0007843)	2.12156913
71	Preauricular pit (HP:0004467)	2.09946566
72	Periauricular skin pits (HP:0100277)	2.09946566
73	Bony spicule pigmentary retinopathy (HP:0007737)	2.08040777
74	Triphalangeal thumb (HP:0001199)	2.07177255
75	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.04872993
76	Double outlet right ventricle (HP:0001719)	2.03031867
77	Congenital malformation of the right heart (HP:0011723)	2.03031867
78	Abnormality of ocular smooth pursuit (HP:0000617)	2.01510394
79	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.00656794
80	Microretrognathia (HP:0000308)	1.98367400
81	Bifid tongue (HP:0010297)	1.98004843
82	Optic nerve coloboma (HP:0000588)	1.95487141
83	Dysphonia (HP:0001618)	1.93042008
84	Small intestinal stenosis (HP:0012848)	1.89719305
85	Duodenal stenosis (HP:0100867)	1.89719305
86	Midline defect of the nose (HP:0004122)	1.89399314
87	Submucous cleft hard palate (HP:0000176)	1.88831523
88	Abnormal ciliary motility (HP:0012262)	1.88512657
89	Rhinitis (HP:0012384)	1.84976797
90	Carpal bone hypoplasia (HP:0001498)	1.83509684
91	Bradykinesia (HP:0002067)	1.82751483
92	Glossoptosis (HP:0000162)	1.82564328
93	Myokymia (HP:0002411)	1.82141057
94	Abnormal umbilical cord blood vessels (HP:0011403)	1.82117724
95	Single umbilical artery (HP:0001195)	1.82117724
96	Abnormality of the fetal cardiovascular system (HP:0010948)	1.82117724
97	Progressive inability to walk (HP:0002505)	1.81803841
98	Concave nail (HP:0001598)	1.81365772
99	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.81307933
100	Abnormality of cells of the erythroid lineage (HP:0012130)	1.80701668

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TESK2	4.17983426
2	GRK1	4.11342642
3	STK16	3.58629292
4	SRPK1	3.45449031
5	FRK	3.31836431
6	BUB1	3.26237549
7	LATS2	3.12572199
8	ADRBK2	2.73316029
9	TAOK3	2.65526421
10	CDK19	2.46219008
11	CDK12	2.45893926
12	AURKA	2.18435543
13	PBK	2.01137126
14	NTRK3	1.87204307
15	PLK1	1.82885437
16	TNIK	1.72946580
17	PLK4	1.69915612
18	ACVR1B	1.55981040
19	CDC7	1.55346253
20	TRIM28	1.43997556
21	ZAK	1.41151852
22	CHEK2	1.36822459
23	NEK6	1.25811266
24	TTK	1.25332254
25	PLK3	1.24662409
26	STK3	1.22210916
27	LATS1	1.21307237
28	AURKB	1.21177640
29	VRK1	1.19918752
30	BMPR1B	1.19750445
31	DYRK3	1.08217739
32	NUAK1	1.07351000
33	NEK2	1.03333514
34	PIM1	1.02903098
35	PKN1	1.02647754
36	CDK7	0.99827619
37	BRSK2	0.97521736
38	BRSK1	0.97321825
39	DYRK1A	0.96311568
40	STK24	0.95870374
41	CHEK1	0.92989604
42	FGFR3	0.89368273
43	CDK9	0.87200815
44	EPHA4	0.85667866
45	MELK	0.85309942
46	RAF1	0.83079386
47	TLK1	0.81693070
48	PIK3CG	0.79671819
49	ADRBK1	0.78259279
50	STK39	0.77345979
51	AKT2	0.77298983
52	TEC	0.74621800
53	MARK3	0.73339202
54	TBK1	0.73077308
55	MAP3K4	0.71705306
56	PIM2	0.71125026
57	DDR2	0.69903123
58	CSNK1E	0.69848115
59	PAK1	0.67519706
60	PRKACB	0.67413243
61	GSK3A	0.66327799
62	STK38L	0.65329719
63	CDK2	0.64836708
64	LMTK2	0.63524588
65	MAP3K3	0.62738760
66	WNK3	0.61901756
67	GRK5	0.58905790
68	WNK1	0.58502544
69	BMX	0.57508736
70	PAK2	0.57191998
71	TAOK2	0.56872880
72	PRKCI	0.55431142
73	PRKG1	0.54520172
74	NME1	0.54486227
75	OXSR1	0.53063960
76	WNK4	0.52160625
77	PDK2	0.51283332
78	ATM	0.50876428
79	CSNK2A1	0.49344793
80	CDK1	0.48647975
81	PLK2	0.47580272
82	PRKCE	0.45690017
83	PRKACA	0.45177411
84	CSNK1D	0.44657535
85	CDK3	0.44336860
86	INSRR	0.43556391
87	MAP3K8	0.43393525
88	PTK2B	0.43275682
89	MTOR	0.42717988
90	CSNK2A2	0.41714461
91	RPS6KB2	0.40108394
92	CAMK2A	0.40053235
93	ATR	0.39469493
94	STK4	0.39307549
95	RPS6KA1	0.38851271
96	CSNK1A1	0.38650060
97	PRKD2	0.38404943
98	GSK3B	0.36700149
99	PRKD1	0.36115170
100	MAPK12	0.35822615

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	4.94734911
2	Basal transcription factors_Homo sapiens_hsa03022	3.84076503
3	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.49345616
4	Ribosome_Homo sapiens_hsa03010	3.36423833
5	RNA polymerase_Homo sapiens_hsa03020	2.61480531
6	Regulation of autophagy_Homo sapiens_hsa04140	2.52280685
7	mRNA surveillance pathway_Homo sapiens_hsa03015	2.48486266
8	Taste transduction_Homo sapiens_hsa04742	2.40506289
9	RNA transport_Homo sapiens_hsa03013	2.28897631
10	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	2.27925450
11	Oocyte meiosis_Homo sapiens_hsa04114	2.17403076
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.15854118
13	Olfactory transduction_Homo sapiens_hsa04740	2.08308706
14	Cell cycle_Homo sapiens_hsa04110	2.02605437
15	Homologous recombination_Homo sapiens_hsa03440	1.94365759
16	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.87281684
17	RNA degradation_Homo sapiens_hsa03018	1.80752985
18	Phototransduction_Homo sapiens_hsa04744	1.74847464
19	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.65784451
20	Mismatch repair_Homo sapiens_hsa03430	1.61507409
21	Spliceosome_Homo sapiens_hsa03040	1.61279489
22	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.59402781
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.54924464
24	Bile secretion_Homo sapiens_hsa04976	1.54722846
25	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.51977968
26	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.47884586
27	p53 signaling pathway_Homo sapiens_hsa04115	1.37157642
28	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.31195454
29	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.30244416
30	Serotonergic synapse_Homo sapiens_hsa04726	1.29569048
31	Nicotine addiction_Homo sapiens_hsa05033	1.29148704
32	Folate biosynthesis_Homo sapiens_hsa00790	1.27782500
33	Nitrogen metabolism_Homo sapiens_hsa00910	1.23516331
34	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.19973936
35	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.13441884
36	GABAergic synapse_Homo sapiens_hsa04727	1.11886694
37	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.05392784
38	Morphine addiction_Homo sapiens_hsa05032	1.04914733
39	Base excision repair_Homo sapiens_hsa03410	0.98148636
40	Retinol metabolism_Homo sapiens_hsa00830	0.97661623
41	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.97187778
42	Pyrimidine metabolism_Homo sapiens_hsa00240	0.92956017
43	Chemical carcinogenesis_Homo sapiens_hsa05204	0.88862288
44	ABC transporters_Homo sapiens_hsa02010	0.86423506
45	Circadian entrainment_Homo sapiens_hsa04713	0.85378375
46	DNA replication_Homo sapiens_hsa03030	0.84485608
47	Sulfur metabolism_Homo sapiens_hsa00920	0.83486830
48	Insulin secretion_Homo sapiens_hsa04911	0.82939491
49	Tryptophan metabolism_Homo sapiens_hsa00380	0.82391302
50	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.81783042
51	Sphingolipid metabolism_Homo sapiens_hsa00600	0.77376464
52	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.74349785
53	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.74230186
54	Purine metabolism_Homo sapiens_hsa00230	0.74140357
55	Ether lipid metabolism_Homo sapiens_hsa00565	0.70268040
56	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.69247899
57	Calcium signaling pathway_Homo sapiens_hsa04020	0.67827516
58	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.66962898
59	Huntingtons disease_Homo sapiens_hsa05016	0.61725044
60	Histidine metabolism_Homo sapiens_hsa00340	0.61210075
61	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.59732470
62	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.57984055
63	Arginine and proline metabolism_Homo sapiens_hsa00330	0.57393475
64	Cardiac muscle contraction_Homo sapiens_hsa04260	0.55232340
65	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.53971306
66	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.53385035
67	Protein digestion and absorption_Homo sapiens_hsa04974	0.52664074
68	Glutamatergic synapse_Homo sapiens_hsa04724	0.52145165
69	Caffeine metabolism_Homo sapiens_hsa00232	0.51764503
70	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.51443071
71	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.50766520
72	Non-homologous end-joining_Homo sapiens_hsa03450	0.48335319
73	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.47252214
74	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.45331440
75	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.44587553
76	Salivary secretion_Homo sapiens_hsa04970	0.42972662
77	Cholinergic synapse_Homo sapiens_hsa04725	0.42235205
78	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.42204364
79	Alcoholism_Homo sapiens_hsa05034	0.41420727
80	Viral carcinogenesis_Homo sapiens_hsa05203	0.41333852
81	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.39967019
82	Glycerolipid metabolism_Homo sapiens_hsa00561	0.37846465
83	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.36459545
84	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.34440533
85	Tight junction_Homo sapiens_hsa04530	0.34427433
86	Fatty acid elongation_Homo sapiens_hsa00062	0.33160073
87	Pancreatic secretion_Homo sapiens_hsa04972	0.32686234
88	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.32536532
89	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.31764206
90	Hippo signaling pathway_Homo sapiens_hsa04390	0.31732271
91	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.30909025
92	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.30326659
93	Herpes simplex infection_Homo sapiens_hsa05168	0.29802663
94	Gap junction_Homo sapiens_hsa04540	0.29791574
95	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.29565520
96	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.27696529
97	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.26903312
98	Wnt signaling pathway_Homo sapiens_hsa04310	0.26768399
99	Steroid biosynthesis_Homo sapiens_hsa00100	0.25872909
100	Collecting duct acid secretion_Homo sapiens_hsa04966	0.24755816

TRIM53BP

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

Tissue Expression Export image »

Cell Line Expression Export image »