ACTRT1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1motile cilium assembly (GO:0044458)9.54649306
2reproduction (GO:0000003)9.44104537
3regulation of cilium movement (GO:0003352)9.10063821
4cilium or flagellum-dependent cell motility (GO:0001539)8.97673656
5cilium movement (GO:0003341)8.12227549
6sperm capacitation (GO:0048240)7.84287844
7single fertilization (GO:0007338)7.59669675
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.32716097
9negative regulation of inclusion body assembly (GO:0090084)7.30977998
10piRNA metabolic process (GO:0034587)7.13419409
11spermatogenesis (GO:0007283)6.89002819
12organic cation transport (GO:0015695)6.88833197
13male gamete generation (GO:0048232)6.86716004
14synaptonemal complex organization (GO:0070193)6.76645926
15male meiosis (GO:0007140)6.75954631
16synaptonemal complex assembly (GO:0007130)6.63046476
17microtubule depolymerization (GO:0007019)6.62721203
18fertilization (GO:0009566)6.43524805
19gamete generation (GO:0007276)6.29736024
20regulation of inclusion body assembly (GO:0090083)6.03669836
21calcium ion-dependent exocytosis (GO:0017156)5.62843222
22germ cell development (GO:0007281)5.51445048
23cellular process involved in reproduction in multicellular organism (GO:0022412)5.44642044
24ventricular system development (GO:0021591)5.43042958
25regulation of microtubule-based movement (GO:0060632)5.30397042
26glycerol ether metabolic process (GO:0006662)5.27188386
27cell recognition (GO:0008037)5.09360047
28chromosome condensation (GO:0030261)5.04779514
29multicellular organismal reproductive process (GO:0048609)4.98221372
30ether metabolic process (GO:0018904)4.86629796
31DNA packaging (GO:0006323)4.81979255
32male meiosis I (GO:0007141)4.74147024
33seminiferous tubule development (GO:0072520)4.67916855
34microtubule severing (GO:0051013)4.54702283
35chromosome organization involved in meiosis (GO:0070192)4.49848740
36left/right pattern formation (GO:0060972)4.46721446
37DNA methylation involved in gamete generation (GO:0043046)4.37892733
38spermatid nucleus differentiation (GO:0007289)4.31872036
39chaperone-mediated protein complex assembly (GO:0051131)4.11148153
40multicellular organismal development (GO:0007275)4.04221575
41meiotic nuclear division (GO:0007126)4.00186696
42meiosis I (GO:0007127)3.75751439
43sexual reproduction (GO:0019953)3.73299178
44protein polyglutamylation (GO:0018095)3.61493597
45genitalia morphogenesis (GO:0035112)3.61123522
46single strand break repair (GO:0000012)3.56158978
47alditol metabolic process (GO:0019400)3.51485417
48microtubule polymerization or depolymerization (GO:0031109)3.33999738
49protein localization to cilium (GO:0061512)3.31508707
50glycolytic process (GO:0006096)3.28291122
51nucleoside diphosphate phosphorylation (GO:0006165)3.24436538
52meiotic cell cycle (GO:0051321)3.23157757
53regulation of spindle checkpoint (GO:0090231)3.21135499
54sequestering of actin monomers (GO:0042989)3.19290774
55polyol catabolic process (GO:0046174)3.15367938
56protein K11-linked deubiquitination (GO:0035871)3.14951555
57protein refolding (GO:0042026)3.11955277
58amino-acid betaine transport (GO:0015838)3.08902393
59carnitine transport (GO:0015879)3.08902393
60RNA localization (GO:0006403)3.03396253
61glycerol metabolic process (GO:0006071)2.99185015
62peptidyl-glutamic acid modification (GO:0018200)2.90610088
63carnitine transmembrane transport (GO:1902603)2.89982270
64GTP biosynthetic process (GO:0006183)2.89671772
65nucleus organization (GO:0006997)2.82330607
66mitotic sister chromatid cohesion (GO:0007064)2.79792560
67polyamine biosynthetic process (GO:0006596)2.77673548
68cilium organization (GO:0044782)2.76339205
69regulation of cilium assembly (GO:1902017)2.73507097
70RNA destabilization (GO:0050779)2.71495757
71interferon-gamma secretion (GO:0072643)2.70415643
72cilium assembly (GO:0042384)2.68601163
73synapsis (GO:0007129)2.66966519
74microtubule-based movement (GO:0007018)2.62949421
75monoubiquitinated protein deubiquitination (GO:0035520)2.62402901
76cellular component assembly involved in morphogenesis (GO:0010927)2.62294612
77meiotic cell cycle process (GO:1903046)2.61670426
78positive regulation of macrophage activation (GO:0043032)2.60661236
79cilium morphogenesis (GO:0060271)2.59659909
80mitochondrion degradation (GO:0000422)2.56966317
81UTP biosynthetic process (GO:0006228)2.55428487
82lactate metabolic process (GO:0006089)2.47935764
83regulation of protein kinase C signaling (GO:0090036)2.45002116
84negative regulation of organelle assembly (GO:1902116)2.41723122
85membrane protein intracellular domain proteolysis (GO:0031293)2.41306507
86gene silencing by RNA (GO:0031047)2.41159530
87sperm motility (GO:0030317)14.9977369
88fusion of sperm to egg plasma membrane (GO:0007342)13.4018362
89acrosome reaction (GO:0007340)12.6163181
90cell wall macromolecule catabolic process (GO:0016998)12.2996865
91cell wall macromolecule metabolic process (GO:0044036)12.2996865
92sperm-egg recognition (GO:0035036)11.7441745
93acrosome assembly (GO:0001675)11.4152937
94multicellular organism reproduction (GO:0032504)11.0719178
95binding of sperm to zona pellucida (GO:0007339)10.6854085
96cell-cell recognition (GO:0009988)10.4915176
97plasma membrane fusion (GO:0045026)10.1719378
98axonemal dynein complex assembly (GO:0070286)10.0918790
99epithelial cilium movement (GO:0003351)10.0843916
100spermatid development (GO:0007286)10.0283409

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.65730168
2EZH2_22144423_ChIP-Seq_EOC_Human4.87037029
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.01197455
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.41920549
5VDR_22108803_ChIP-Seq_LS180_Human2.86354013
6STAT6_21828071_ChIP-Seq_BEAS2B_Human2.72812339
7PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.60749265
8CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.51260146
9BP1_19119308_ChIP-ChIP_Hs578T_Human2.42076688
10EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.11998130
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.07331287
12GATA1_26923725_Chip-Seq_HPCs_Mouse2.05496973
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.97311772
14FLI1_27457419_Chip-Seq_LIVER_Mouse1.89809124
15CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.88575950
16ZNF274_21170338_ChIP-Seq_K562_Hela1.83424239
17STAT1_17558387_ChIP-Seq_HELA_Human1.78485142
18KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.74274243
19SOX2_22085726_ChIP-Seq_NPCs_Mouse1.69879586
20MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.69861359
21ELK4_26923725_Chip-Seq_MESODERM_Mouse1.69582240
22FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.67439880
23TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.58048246
24PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.54334365
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.52550164
26WDR5_24793694_ChIP-Seq_LNCAP_Human1.50716956
27TAL1_26923725_Chip-Seq_HPCs_Mouse1.49614386
28KDM2B_26808549_Chip-Seq_REH_Human1.47586309
29GATA3_21867929_ChIP-Seq_CD8_Mouse1.47154360
30FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.40193713
31GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.40181667
32REST_21632747_ChIP-Seq_MESCs_Mouse1.40178290
33KAP1_22055183_ChIP-Seq_ESCs_Mouse1.39570598
34RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.39207370
35CBP_20019798_ChIP-Seq_JUKART_Human1.36500769
36IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.36500769
37GATA3_21867929_ChIP-Seq_TH1_Mouse1.36117881
38RAD21_21589869_ChIP-Seq_MESCs_Mouse1.33505012
39ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.29820095
40* CBX2_27304074_Chip-Seq_ESCs_Mouse1.26416082
41P53_21459846_ChIP-Seq_SAOS-2_Human1.25822129
42LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.24359698
43PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23120539
44PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.22786458
45SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.22494766
46GF1_26923725_Chip-Seq_HPCs_Mouse1.21522983
47SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.20697733
48ERG_20517297_ChIP-Seq_VCAP_Human1.20477030
49TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19244721
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.18168430
51CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17503415
52TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16347453
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16347453
54SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15609812
55CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.14458917
56NFE2_27457419_Chip-Seq_LIVER_Mouse1.13368861
57MYC_27129775_Chip-Seq_CORNEA_Mouse1.13322655
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.11128705
59FLI1_21867929_ChIP-Seq_TH2_Mouse1.11085469
60SPI1_26923725_Chip-Seq_HPCs_Mouse1.09634442
61MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.08702472
62SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07645443
63PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07410238
64TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06203136
65PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06157948
66RXRA_24833708_ChIP-Seq_LIVER_Mouse1.05902864
67EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.05750084
68RUNX1_26923725_Chip-Seq_HPCs_Mouse1.05304634
69CTCF_20526341_ChIP-Seq_ESCs_Human1.02754483
70ESET_19884257_ChIP-Seq_ESCs_Mouse1.02259021
71SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00971020
72PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00777014
73SOX11_22085726_ChIP-Seq_ESNs_Mouse1.00261807
74EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.99804940
75TET1_21451524_ChIP-Seq_MESCs_Mouse0.99421880
76JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.99301143
77SMC3_22415368_ChIP-Seq_MEFs_Mouse0.98908161
78* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.98847341
79PCGF2_27294783_Chip-Seq_NPCs_Mouse0.98714526
80RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98700286
81GATA1_19941827_ChIP-Seq_MEL86_Mouse0.98166237
82YY1_22570637_ChIP-Seq_MALME-3M_Human0.96547040
83FLI1_21867929_ChIP-Seq_CD8_Mouse0.95246457
84CRX_20693478_ChIP-Seq_RETINA_Mouse0.94973851
85MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.94349755
86ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.93983731
87RARA_24833708_ChIP-Seq_LIVER_Mouse0.93698887
88RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93437765
89NFIB_24661679_ChIP-Seq_LUNG_Mouse0.93131003
90NANOG_18555785_Chip-Seq_ESCs_Mouse0.92066478
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.91054688
92LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90022090
93NANOG_20526341_ChIP-Seq_ESCs_Human0.89684210
94SMAD4_21741376_ChIP-Seq_EPCs_Human0.89028095
95CTCF_26484167_Chip-Seq_Bcells_Mouse0.87720657
96SOX2_21211035_ChIP-Seq_LN229_Human0.87670179
97PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87546681
98BCOR_27268052_Chip-Seq_Bcells_Human0.86982278
99ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85904517
100NFYB_21822215_ChIP-Seq_K562_Human0.85515472

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive5.98215772
2MP0001929_abnormal_gametogenesis5.36472120
3MP0008877_abnormal_DNA_methylation3.50958756
4MP0002161_abnormal_fertility/fecundity3.30722520
5MP0002210_abnormal_sex_determination3.19204781
6MP0005670_abnormal_white_adipose2.77621978
7MP0001145_abnormal_male_reproductive2.70233816
8MP0002653_abnormal_ependyma_morphology2.68057024
9MP0000653_abnormal_sex_gland2.32850051
10MP0005410_abnormal_fertilization16.8092359
11MP0002282_abnormal_trachea_morphology1.63840469
12MP0003646_muscle_fatigue1.42218776
13MP0005623_abnormal_meninges_morphology1.39917509
14MP0003136_yellow_coat_color1.28497857
15MP0002160_abnormal_reproductive_system1.21525458
16MP0004233_abnormal_muscle_weight1.09976439
17MP0003011_delayed_dark_adaptation1.09016765
18MP0001765_abnormal_ion_homeostasis0.99272386
19MP0001984_abnormal_olfaction0.93570484
20MP0003329_amyloid_beta_deposits0.83419055
21MP0008995_early_reproductive_senescence0.81493793
22MP0005647_abnormal_sex_gland0.76659436
23MP0009046_muscle_twitch0.75415603
24MP0003115_abnormal_respiratory_system0.74831351
25MP0002234_abnormal_pharynx_morphology0.68866426
26MP0002736_abnormal_nociception_after0.67814048
27MP0005636_abnormal_mineral_homeostasis0.66765667
28MP0001324_abnormal_eye_pigmentation0.63349268
29MP0005666_abnormal_adipose_tissue0.57917038
30MP0009278_abnormal_bone_marrow0.56606475
31MP0005389_reproductive_system_phenotype0.54984037
32MP0000604_amyloidosis0.51291868
33MP0005377_hearing/vestibular/ear_phenot0.50509526
34MP0003878_abnormal_ear_physiology0.50509526
35MP0001968_abnormal_touch/_nociception0.49145374
36MP0004036_abnormal_muscle_relaxation0.48156735
37MP0005253_abnormal_eye_physiology0.47188857
38MP0009785_altered_susceptibility_to0.44938701
39MP0001764_abnormal_homeostasis0.42803249
40MP0003699_abnormal_female_reproductive0.41885561
41MP0008058_abnormal_DNA_repair0.41149264
42MP0005551_abnormal_eye_electrophysiolog0.41087814
43MP0001293_anophthalmia0.41025355
44MP0002139_abnormal_hepatobiliary_system0.38632145
45MP0001545_abnormal_hematopoietic_system0.37634642
46MP0005397_hematopoietic_system_phenotyp0.37634642
47MP0001849_ear_inflammation0.34811651
48MP0005391_vision/eye_phenotype0.33136381
49MP0003633_abnormal_nervous_system0.32322959
50MP0002269_muscular_atrophy0.31968948
51MP0004742_abnormal_vestibular_system0.31838486
52MP0002405_respiratory_system_inflammati0.30952230
53MP0000358_abnormal_cell_content/0.30615367
54MP0002295_abnormal_pulmonary_circulatio0.30571331
55MP0000534_abnormal_ureter_morphology0.29625496
56MP0005174_abnormal_tail_pigmentation0.29615719
57MP0001727_abnormal_embryo_implantation0.28685578
58MP0006082_CNS_inflammation0.27788670
59MP0002102_abnormal_ear_morphology0.27693532
60MP0008875_abnormal_xenobiotic_pharmacok0.26285410
61MP0006036_abnormal_mitochondrial_physio0.25938890
62MP0003631_nervous_system_phenotype0.25348418
63MP0004811_abnormal_neuron_physiology0.24843288
64MP0003436_decreased_susceptibility_to0.24436513
65MP0000920_abnormal_myelination0.23160522
66MP0002152_abnormal_brain_morphology0.23036425
67MP0003942_abnormal_urinary_system0.22574991
68MP0004145_abnormal_muscle_electrophysio0.22557825
69MP0000569_abnormal_digit_pigmentation0.22146721
70MP0008469_abnormal_protein_level0.21971278
71MP0002572_abnormal_emotion/affect_behav0.21700726
72MP0009115_abnormal_fat_cell0.21161112
73MP0001851_eye_inflammation0.20977100
74MP0003948_abnormal_gas_homeostasis0.20155226
75MP0002063_abnormal_learning/memory/cond0.19778573
76MP0002873_normal_phenotype0.19602957
77MP0004270_analgesia0.19573271
78MP0005025_abnormal_response_to0.19501397
79MP0002169_no_abnormal_phenotype0.19451543
80MP0004133_heterotaxia0.19069957
81MP0001119_abnormal_female_reproductive0.18806136
82MP0003861_abnormal_nervous_system0.18404447
83MP0004043_abnormal_pH_regulation0.17832559
84MP0006035_abnormal_mitochondrial_morpho0.17162379
85MP0005535_abnormal_body_temperature0.16453431
86MP0002971_abnormal_brown_adipose0.16200251
87MP0002118_abnormal_lipid_homeostasis0.15905849
88MP0002133_abnormal_respiratory_system0.15378972
89MP0005388_respiratory_system_phenotype0.15378972
90MP0002092_abnormal_eye_morphology0.15274632
91MP0002272_abnormal_nervous_system0.15205634
92MP0006054_spinal_hemorrhage0.15152588
93MP0000579_abnormal_nail_morphology0.14520596
94MP0003634_abnormal_glial_cell0.14003922
95MP0003632_abnormal_nervous_system0.13955918
96MP0003635_abnormal_synaptic_transmissio0.13920682
97MP0000249_abnormal_blood_vessel0.13178375
98MP0008569_lethality_at_weaning0.13034970
99MP0002229_neurodegeneration0.12074414
100MP0001661_extended_life_span0.11834503

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.27878619
2Abnormal respiratory motile cilium morphology (HP:0005938)9.23660490
3Abnormal respiratory epithelium morphology (HP:0012253)9.23660490
4Rhinitis (HP:0012384)7.35702092
5Chronic bronchitis (HP:0004469)7.35041004
6Infertility (HP:0000789)7.12930719
7Abnormal ciliary motility (HP:0012262)7.12574755
8Nasal polyposis (HP:0100582)6.58393511
9Abnormality of the nasal mucosa (HP:0000433)5.41433692
10Male infertility (HP:0003251)5.05252025
11Bronchitis (HP:0012387)4.79027809
12Bronchiectasis (HP:0002110)4.42837903
13Nephronophthisis (HP:0000090)4.00599416
14Abnormal spermatogenesis (HP:0008669)3.55646078
15Recurrent otitis media (HP:0000403)3.41753514
16Recurrent sinusitis (HP:0011108)3.41276267
17Recurrent bronchitis (HP:0002837)3.08352346
18Abnormality of the renal medulla (HP:0100957)2.99057894
19Cholecystitis (HP:0001082)2.69150332
20Abnormal gallbladder physiology (HP:0012438)2.69150332
21Impulsivity (HP:0100710)2.68167656
22Tubulointerstitial nephritis (HP:0001970)2.58464821
23Gonadotropin excess (HP:0000837)2.56619265
24Abnormality of midbrain morphology (HP:0002418)2.55223943
25Molar tooth sign on MRI (HP:0002419)2.55223943
26Dyschromatopsia (HP:0007641)2.39630053
27Spastic tetraparesis (HP:0001285)2.36520167
28Choroideremia (HP:0001139)2.36382088
29Tubulointerstitial abnormality (HP:0001969)2.33393950
30Tubular atrophy (HP:0000092)2.18069272
31Medial flaring of the eyebrow (HP:0010747)2.10015689
32Decreased central vision (HP:0007663)2.08978758
33Hemorrhage of the eye (HP:0011885)2.08121017
34Azoospermia (HP:0000027)2.07926868
35Dynein arm defect of respiratory motile cilia (HP:0012255)13.5971829
36Absent/shortened dynein arms (HP:0200106)13.5971829
37Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.1962439
38Tubulointerstitial fibrosis (HP:0005576)1.99267936
39Neurofibrillary tangles (HP:0002185)1.93135287
40Postaxial foot polydactyly (HP:0001830)1.79953878
41Hypoplasia of the capital femoral epiphysis (HP:0003090)1.77839199
42Deformed sella turcica (HP:0002681)1.70091809
43Congenital hepatic fibrosis (HP:0002612)1.68203033
44Decreased electroretinogram (ERG) amplitude (HP:0000654)1.65416856
45Hemiparesis (HP:0001269)1.61306623
46Stage 5 chronic kidney disease (HP:0003774)1.58843021
47Fibular hypoplasia (HP:0003038)1.57763315
48Heterotopia (HP:0002282)1.56597632
49Bell-shaped thorax (HP:0001591)1.55116121
50Abnormal drinking behavior (HP:0030082)1.54782297
51Polydipsia (HP:0001959)1.54782297
52Abnormal biliary tract physiology (HP:0012439)1.51345848
53Bile duct proliferation (HP:0001408)1.51345848
54Short ribs (HP:0000773)1.49393607
55Cerebral inclusion bodies (HP:0100314)1.49109461
56Abnormality of renal excretion (HP:0011036)1.46735058
57J-shaped sella turcica (HP:0002680)1.46509129
58Double outlet right ventricle (HP:0001719)1.42884068
59Congenital malformation of the right heart (HP:0011723)1.42884068
60Neoplasm of the heart (HP:0100544)1.42451021
61Abnormality of dentin (HP:0010299)1.42367937
62Aplasia/Hypoplasia of the lens (HP:0008063)1.42321941
63Hyporeflexia of lower limbs (HP:0002600)1.41553880
64Abnormality of permanent molar morphology (HP:0011071)1.40114435
65Abnormality of the dental root (HP:0006486)1.40114435
66Taurodontia (HP:0000679)1.40114435
67Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.39343397
68Absent epiphyses (HP:0010577)1.39343397
69Oculomotor apraxia (HP:0000657)1.38203844
70Amyotrophic lateral sclerosis (HP:0007354)1.37947690
71Postaxial hand polydactyly (HP:0001162)1.37833944
72Abnormality of the renal cortex (HP:0011035)1.36081196
73Asymmetric septal hypertrophy (HP:0001670)1.35367288
74Sensory axonal neuropathy (HP:0003390)1.34320338
75Hypercholesterolemia (HP:0003124)1.32762641
76Bundle branch block (HP:0011710)1.32430070
77Abnormality of the dental pulp (HP:0006479)1.30210593
78Chronic sinusitis (HP:0011109)1.28803532
79EMG: neuropathic changes (HP:0003445)1.28369655
80Abnormality of the sella turcica (HP:0002679)1.28340225
81Abnormality of molar morphology (HP:0011070)1.28122769
82Abnormality of molar (HP:0011077)1.28122769
83Exercise-induced myalgia (HP:0003738)1.27486459
84Loss of speech (HP:0002371)1.24729204
85Short femoral neck (HP:0100864)1.23841287
86Abnormal urine output (HP:0012590)1.22909373
87Renal dysplasia (HP:0000110)1.22663009
88Facial cleft (HP:0002006)1.20561161
89Constricted visual fields (HP:0001133)1.19516491
90Nephropathy (HP:0000112)1.17229084
91Abnormality of the lower motor neuron (HP:0002366)1.16960102
92Easy fatigability (HP:0003388)1.16506423
93Retrobulbar optic neuritis (HP:0100654)1.16187660
94Optic neuritis (HP:0100653)1.16187660
95Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.16054582
96Rhabdomyolysis (HP:0003201)1.15823872
97Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.15670503
98Broad distal phalanx of finger (HP:0009836)1.14864200
99Absent frontal sinuses (HP:0002688)1.14293885
100Myoglobinuria (HP:0002913)1.13968657

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK37.57449463
2PDK47.57449463
3TESK16.76530043
4PRKD35.72045374
5PDK24.88405198
6ICK4.88116618
7WNK42.20561942
8PTK2B2.19773990
9STK392.16840522
10DYRK1B1.93691860
11PNCK1.86591065
12STK381.63264190
13NEK21.43763478
14PDK11.24369561
15RIPK41.14582448
16PASK0.96913738
17DYRK30.93312481
18TYRO30.85800966
19PDPK10.85643784
20MAPK150.81446596
21MUSK0.78534227
22IRAK10.75641623
23WNK10.75575642
24STK30.75179941
25CAMK1G0.70384888
26TESK20.63426492
27EEF2K0.61907442
28CCNB10.61392788
29MAP2K60.54920428
30NTRK20.51025295
31PAK10.50259784
32PINK10.49378254
33IRAK20.49143662
34TBK10.45652213
35CLK10.45392445
36CHEK20.42227427
37CAMKK10.41963297
38PAK40.40932827
39TTK0.40301659
40PRKCG0.38126948
41MAPKAPK50.31810904
42PRKCQ0.31471939
43LMTK20.30615273
44PBK0.30015333
45PAK20.28509318
46EPHB10.26358335
47CHEK10.26002680
48BRAF0.24687860
49ARAF0.23170723
50CDK150.22248982
51ATR0.21180824
52PRKCZ0.21064719
53MARK20.19117853
54CDK180.19102486
55CDK11A0.18505384
56PKN10.18146960
57PRKG20.17959729
58ATM0.16078255
59MTOR0.14781128
60FGR0.14519458
61STK240.14438181
62RPS6KA10.13998605
63CSK0.13927834
64RPS6KB10.13241988
65STK100.13110728
66CSF1R0.12824726
67PRKCD0.12341997
68CDK140.11441168
69STK38L0.08519365
70PRKAA10.07589474
71NEK60.07371333
72PRKACG0.07144236
73CSNK2A10.06949016
74MAP3K100.06874423
75PRKG10.05333903
76PRKCA0.05208151
77CAMK2A0.04548496
78EGFR0.04364046
79PIM10.03362985
80PLK10.03218197
81MAP3K50.03078098
82MST40.02650735
83GSK3B0.01946073
84BLK0.01871527
85PRKACA0.01705776
86ZAP700.01690254
87BMX0.00719224
88PRKCB0.00322214
89MST1R-0.0472304
90FYN-0.0425903
91CDK3-0.0384675
92RPS6KA3-0.0263373
93PRKACB-0.0262972
94SRC-0.0237879
95CSNK2A2-0.0179142
96PLK4-0.0083991
97CSNK1D-0.0031444
98YES1-0.0005636
99RPS6KA2-0.0003535
100MARK3-0.0002429

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000614.90101928
2Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.60577466
3Pyruvate metabolism_Homo sapiens_hsa006203.29711775
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.96111649
5Propanoate metabolism_Homo sapiens_hsa006402.94389251
6Vitamin B6 metabolism_Homo sapiens_hsa007502.93017679
7Linoleic acid metabolism_Homo sapiens_hsa005912.83884819
8Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.81394984
9PPAR signaling pathway_Homo sapiens_hsa033202.63362814
10Glucagon signaling pathway_Homo sapiens_hsa049222.45188616
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.38715344
12Carbohydrate digestion and absorption_Homo sapiens_hsa049732.30477726
13Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.04071086
14Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.96627452
15Mineral absorption_Homo sapiens_hsa049781.79172358
16Basal transcription factors_Homo sapiens_hsa030221.78366323
17Glycerolipid metabolism_Homo sapiens_hsa005611.78021247
18Fatty acid degradation_Homo sapiens_hsa000711.67669308
19Fatty acid metabolism_Homo sapiens_hsa012121.63771051
20Dorso-ventral axis formation_Homo sapiens_hsa043201.63531634
21Pentose phosphate pathway_Homo sapiens_hsa000301.62014214
22Glycosaminoglycan degradation_Homo sapiens_hsa005311.58550188
23Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.57481885
24Fructose and mannose metabolism_Homo sapiens_hsa000511.52371358
25Selenocompound metabolism_Homo sapiens_hsa004501.51450082
26Amphetamine addiction_Homo sapiens_hsa050311.44143048
27Ether lipid metabolism_Homo sapiens_hsa005651.41674749
28Glycerophospholipid metabolism_Homo sapiens_hsa005641.39675502
29Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.37766749
30Carbon metabolism_Homo sapiens_hsa012001.33236596
31Fat digestion and absorption_Homo sapiens_hsa049751.30962244
32Oocyte meiosis_Homo sapiens_hsa041141.30501751
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.26811908
34Cardiac muscle contraction_Homo sapiens_hsa042601.25350534
35Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.20411517
36Renin secretion_Homo sapiens_hsa049241.09052449
37Huntingtons disease_Homo sapiens_hsa050161.08399973
38Glutathione metabolism_Homo sapiens_hsa004801.06715645
39Legionellosis_Homo sapiens_hsa051341.03717943
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.03606229
41Chemical carcinogenesis_Homo sapiens_hsa052041.03389561
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02376331
43Antigen processing and presentation_Homo sapiens_hsa046120.99337154
44Fanconi anemia pathway_Homo sapiens_hsa034600.96649897
45Adipocytokine signaling pathway_Homo sapiens_hsa049200.93401958
46Collecting duct acid secretion_Homo sapiens_hsa049660.90120965
47Biosynthesis of amino acids_Homo sapiens_hsa012300.87515482
48Hedgehog signaling pathway_Homo sapiens_hsa043400.87052607
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.85478879
50Salmonella infection_Homo sapiens_hsa051320.85300569
51Purine metabolism_Homo sapiens_hsa002300.82859542
52Insulin secretion_Homo sapiens_hsa049110.80850023
53Long-term potentiation_Homo sapiens_hsa047200.75740202
54Arachidonic acid metabolism_Homo sapiens_hsa005900.74160095
55Bile secretion_Homo sapiens_hsa049760.71443129
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70978063
57mRNA surveillance pathway_Homo sapiens_hsa030150.66535708
58Estrogen signaling pathway_Homo sapiens_hsa049150.63653390
59cGMP-PKG signaling pathway_Homo sapiens_hsa040220.63367280
60Thyroid hormone synthesis_Homo sapiens_hsa049180.61259596
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.56139224
62Calcium signaling pathway_Homo sapiens_hsa040200.53407385
63Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52913343
64Salivary secretion_Homo sapiens_hsa049700.50815871
65ABC transporters_Homo sapiens_hsa020100.48427776
66Sulfur metabolism_Homo sapiens_hsa009200.46411318
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46008882
68Endocytosis_Homo sapiens_hsa041440.45215784
69Complement and coagulation cascades_Homo sapiens_hsa046100.42657300
70Central carbon metabolism in cancer_Homo sapiens_hsa052300.42002081
71RNA transport_Homo sapiens_hsa030130.41667414
72Pancreatic secretion_Homo sapiens_hsa049720.39452368
73Gastric acid secretion_Homo sapiens_hsa049710.39080111
74Vascular smooth muscle contraction_Homo sapiens_hsa042700.37190784
75Synaptic vesicle cycle_Homo sapiens_hsa047210.36360379
76B cell receptor signaling pathway_Homo sapiens_hsa046620.33549256
77Metabolic pathways_Homo sapiens_hsa011000.33066929
78VEGF signaling pathway_Homo sapiens_hsa043700.31533566
79Type I diabetes mellitus_Homo sapiens_hsa049400.31485457
80Circadian entrainment_Homo sapiens_hsa047130.29846244
81Staphylococcus aureus infection_Homo sapiens_hsa051500.29633372
82Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.29260767
83Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.29019222
84Protein digestion and absorption_Homo sapiens_hsa049740.28250422
85AMPK signaling pathway_Homo sapiens_hsa041520.27947654
86cAMP signaling pathway_Homo sapiens_hsa040240.27795118
87Taste transduction_Homo sapiens_hsa047420.27689555
88Cocaine addiction_Homo sapiens_hsa050300.26977261
89Systemic lupus erythematosus_Homo sapiens_hsa053220.24345518
90Graft-versus-host disease_Homo sapiens_hsa053320.22919824
91Influenza A_Homo sapiens_hsa051640.22660299
92Proteasome_Homo sapiens_hsa030500.21128232
93Measles_Homo sapiens_hsa051620.20883649
94Rheumatoid arthritis_Homo sapiens_hsa053230.20619125
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.18439618
96Renin-angiotensin system_Homo sapiens_hsa046140.17509578
97Peroxisome_Homo sapiens_hsa041460.16375855
98Pyrimidine metabolism_Homo sapiens_hsa002400.15368115
99Glutamatergic synapse_Homo sapiens_hsa047240.15165747
100Nitrogen metabolism_Homo sapiens_hsa009100.14020186

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