NLRP4

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: The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1multicellular organism reproduction (GO:0032504)9.41689788
2oocyte development (GO:0048599)8.96887821
3protein kinase C signaling (GO:0070528)8.09575763
4meiotic cell cycle (GO:0051321)7.79621372
5piRNA metabolic process (GO:0034587)7.67441303
6positive regulation of humoral immune response (GO:0002922)7.52791710
7negative regulation of reproductive process (GO:2000242)7.25965522
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)7.02823016
9positive regulation of histone H3-K4 methylation (GO:0051571)6.76130582
10regulation of histone H3-K9 methylation (GO:0051570)6.74417404
11regulation of meiosis I (GO:0060631)6.69688165
12negative regulation of retinoic acid receptor signaling pathway (GO:0048387)6.58278216
13retinal cone cell development (GO:0046549)6.52587139
14DNA methylation involved in gamete generation (GO:0043046)6.51134260
15reproduction (GO:0000003)6.32148444
16female gamete generation (GO:0007292)6.27032708
17negative regulation of histone methylation (GO:0031061)5.74780012
18regulation of steroid hormone secretion (GO:2000831)5.64915727
19regulation of retinoic acid receptor signaling pathway (GO:0048385)5.64627990
20citrulline biosynthetic process (GO:0019240)5.48297178
21binding of sperm to zona pellucida (GO:0007339)5.44492261
22mitotic chromosome condensation (GO:0007076)5.38399881
23glycine transport (GO:0015816)5.13277609
24regulation of cell maturation (GO:1903429)4.89442524
25gene silencing by RNA (GO:0031047)4.76412987
26positive regulation of reproductive process (GO:2000243)4.65708102
27positive regulation of mitotic sister chromatid separation (GO:1901970)4.63685641
28positive regulation of mitotic metaphase/anaphase transition (GO:0045842)4.63685641
29positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)4.63685641
30regulation of hypersensitivity (GO:0002883)4.62989036
31fertilization (GO:0009566)4.61523690
32protein localization to chromosome, centromeric region (GO:0071459)4.60253029
33protein localization to kinetochore (GO:0034501)4.53215421
34single fertilization (GO:0007338)4.51289566
35positive regulation of gastrulation (GO:2000543)4.44964579
36regulation of calcium ion-dependent exocytosis (GO:0017158)4.34157784
37positive regulation of histone methylation (GO:0031062)4.21634179
38sperm-egg recognition (GO:0035036)4.19243409
39positive regulation of chromosome segregation (GO:0051984)4.16872889
40regulation of steroid hormone biosynthetic process (GO:0090030)4.11585004
41regulation of histone H3-K4 methylation (GO:0051569)4.09500491
42mitotic metaphase plate congression (GO:0007080)4.07665877
43primitive streak formation (GO:0090009)4.07617785
44regulation of phospholipid biosynthetic process (GO:0071071)4.04180536
45regulation of reproductive process (GO:2000241)4.01867703
46attachment of spindle microtubules to kinetochore (GO:0008608)3.99959437
47DNA alkylation (GO:0006305)3.95348307
48DNA methylation (GO:0006306)3.95348307
49centriole replication (GO:0007099)3.85457958
50regulation of meiosis (GO:0040020)3.80729794
51establishment of chromosome localization (GO:0051303)3.80276434
52regulation of histone methylation (GO:0031060)3.74833569
53male meiosis I (GO:0007141)3.67175585
54regulation of spindle organization (GO:0090224)3.63256273
55positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.62505704
56L-amino acid import (GO:0043092)3.58821073
57synapsis (GO:0007129)3.56757596
58phosphorelay signal transduction system (GO:0000160)3.54174291
59positive regulation of uterine smooth muscle contraction (GO:0070474)3.49232882
60phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.48418951
61N-terminal protein amino acid acetylation (GO:0006474)3.47777445
62negative regulation of histone modification (GO:0031057)3.41858005
63synaptonemal complex assembly (GO:0007130)3.40916952
64negative regulation of hormone biosynthetic process (GO:0032353)3.40599975
65protein localization to chromosome (GO:0034502)3.40523001
66gene silencing (GO:0016458)3.40148112
67regulation of chromatin silencing (GO:0031935)3.39970842
68histone H3-K9 demethylation (GO:0033169)3.37918492
69cell-cell recognition (GO:0009988)3.37306235
70interkinetic nuclear migration (GO:0022027)3.33247665
71stress granule assembly (GO:0034063)3.32317366
72regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.31979432
73metaphase plate congression (GO:0051310)3.26900897
74negative regulation of hormone metabolic process (GO:0032351)3.25921935
75citrulline metabolic process (GO:0000052)3.23874417
76phosphatidylinositol dephosphorylation (GO:0046856)3.22834721
77male meiosis (GO:0007140)3.21698448
78regulation of G2/M transition of mitotic cell cycle (GO:0010389)3.19440978
79meiosis I (GO:0007127)3.16915917
80DNA replication-dependent nucleosome assembly (GO:0006335)3.16864355
81DNA replication-dependent nucleosome organization (GO:0034723)3.16864355
82oogenesis (GO:0048477)3.15718754
83regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.15217598
84type B pancreatic cell development (GO:0003323)3.14113237
85chromosome organization involved in meiosis (GO:0070192)3.13247927
86regulation of corticosteroid hormone secretion (GO:2000846)3.12784946
87regulation of meiotic cell cycle (GO:0051445)3.12743926
88DNA replication checkpoint (GO:0000076)3.12356807
89regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.12195237
90CENP-A containing nucleosome assembly (GO:0034080)3.12107881
91positive regulation of hormone biosynthetic process (GO:0046886)3.05076914
92negative regulation of chromatin modification (GO:1903309)3.03161228
93synaptonemal complex organization (GO:0070193)3.02773055
94phospholipid dephosphorylation (GO:0046839)2.98504443
95regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.98033276
96meiotic cell cycle process (GO:1903046)2.97681231
97labyrinthine layer development (GO:0060711)2.96529426
98regulation of acrosome reaction (GO:0060046)12.2292946
99regulation of female gonad development (GO:2000194)11.8098176
100regulation of DNA methylation (GO:0044030)10.4149339

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.22380961
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.62795616
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.14734875
4E2F7_22180533_ChIP-Seq_HELA_Human4.07345152
5KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.29740049
6KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.29740049
7KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.29740049
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.12337253
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.88863150
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.80633924
11NOTCH1_21737748_ChIP-Seq_TLL_Human2.64387910
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.48382526
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.38944849
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.36195423
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.30462393
16TP63_19390658_ChIP-ChIP_HaCaT_Human2.18965179
17RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.17355802
18* EZH2_22144423_ChIP-Seq_EOC_Human13.7530936
19GATA1_26923725_Chip-Seq_HPCs_Mouse1.93999300
20HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.92894139
21TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.78699114
22GBX2_23144817_ChIP-Seq_PC3_Human1.77472177
23AR_21909140_ChIP-Seq_LNCAP_Human1.74947973
24BP1_19119308_ChIP-ChIP_Hs578T_Human1.67639807
25E2F4_17652178_ChIP-ChIP_JURKAT_Human1.63909369
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.61459803
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60073918
28EP300_21415370_ChIP-Seq_HL-1_Mouse1.40187565
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32015371
30CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.27611212
31CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23752063
32TCF4_23295773_ChIP-Seq_U87_Human1.21131892
33TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20692186
34UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17497522
35PRDM14_20953172_ChIP-Seq_ESCs_Human1.17197399
36CBP_20019798_ChIP-Seq_JUKART_Human1.13556361
37IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13556361
38GF1_26923725_Chip-Seq_HPCs_Mouse1.13116083
39NANOG_20526341_ChIP-Seq_ESCs_Human1.12475832
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11642436
41POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11642436
42LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10677540
43SMAD4_21741376_ChIP-Seq_EPCs_Human1.09744413
44AR_25329375_ChIP-Seq_VCAP_Human1.08118248
45TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07625766
46GATA1_19941827_ChIP-Seq_MEL86_Mouse1.05538571
47GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.03180926
48SMAD4_21799915_ChIP-Seq_A2780_Human1.01768058
49LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98956611
50CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.97641849
51FOXH1_21741376_ChIP-Seq_EPCs_Human0.95276358
52FOXM1_26456572_ChIP-Seq_MCF-7_Human0.92607791
53* RUNX2_22187159_ChIP-Seq_PCA_Human0.92558001
54IRF1_19129219_ChIP-ChIP_H3396_Human0.91998773
55KLF4_19829295_ChIP-Seq_ESCs_Human0.91041192
56KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.90905484
57CBP_21632823_ChIP-Seq_H3396_Human0.88844362
58STAT3_23295773_ChIP-Seq_U87_Human0.87857936
59CREB1_15753290_ChIP-ChIP_HEK293T_Human0.84012781
60TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.81999619
61EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.81872814
62SMRT_27268052_Chip-Seq_Bcells_Human0.81721497
63PKCTHETA_26484144_Chip-Seq_BREAST_Human0.80340242
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.79080189
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.77986237
66SMAD3_21741376_ChIP-Seq_EPCs_Human0.77158925
67NR3C1_23031785_ChIP-Seq_PC12_Mouse0.76350506
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75967618
69NANOG_18555785_ChIP-Seq_MESCs_Mouse0.75621774
70ESR1_15608294_ChIP-ChIP_MCF-7_Human0.74641890
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.73256441
72STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.73040694
73AHR_22903824_ChIP-Seq_MCF-7_Human0.71538327
74SALL4_22934838_ChIP-ChIP_CD34+_Human0.71503985
75KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.71304086
76BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.71098712
77OCT4_19829295_ChIP-Seq_ESCs_Human0.71062181
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.70399085
79TAL1_26923725_Chip-Seq_HPCs_Mouse0.70306531
80FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.69496271
81EZH2_27304074_Chip-Seq_ESCs_Mouse0.69334794
82ZNF274_21170338_ChIP-Seq_K562_Hela0.68240024
83STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.67896530
84FOXO3_23340844_ChIP-Seq_DLD1_Human0.66875523
85PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.66642855
86SALL1_21062744_ChIP-ChIP_HESCs_Human0.65361747
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.65317134
88EWS_26573619_Chip-Seq_HEK293_Human0.65233154
89REST_21632747_ChIP-Seq_MESCs_Mouse0.64892601
90P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.64671911
91HTT_18923047_ChIP-ChIP_STHdh_Human0.64636495
92CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.64362266
93SMAD3_21741376_ChIP-Seq_ESCs_Human0.64006392
94SOX2_21211035_ChIP-Seq_LN229_Gbm0.64002290
95BMI1_23680149_ChIP-Seq_NPCS_Mouse0.63855665
96NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.63469299
97DROSHA_22980978_ChIP-Seq_HELA_Human0.62837076
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.60767769
99MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.60307650
100FOXP3_21729870_ChIP-Seq_TREG_Human0.59964708

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003718_maternal_effect8.98714819
2MP0006292_abnormal_olfactory_placode4.66462100
3MP0008877_abnormal_DNA_methylation4.19019121
4MP0008789_abnormal_olfactory_epithelium3.83331636
5MP0005395_other_phenotype3.59713492
6MP0005394_taste/olfaction_phenotype3.55502015
7MP0005499_abnormal_olfactory_system3.55502015
8MP0008057_abnormal_DNA_replication3.19639457
9MP0002139_abnormal_hepatobiliary_system3.13692881
10MP0003890_abnormal_embryonic-extraembry2.94345297
11MP0003699_abnormal_female_reproductive2.86074057
12MP0003693_abnormal_embryo_hatching2.82514142
13MP0002138_abnormal_hepatobiliary_system2.71501629
14MP0001929_abnormal_gametogenesis2.48843855
15MP0005360_urolithiasis2.46615432
16MP0010030_abnormal_orbit_morphology2.40800295
17MP0010234_abnormal_vibrissa_follicle2.31347182
18MP0003879_abnormal_hair_cell2.25868383
19MP0002210_abnormal_sex_determination2.12767181
20MP0002234_abnormal_pharynx_morphology2.10333168
21MP0003077_abnormal_cell_cycle2.06493384
22MP0008058_abnormal_DNA_repair1.95944035
23MP0003950_abnormal_plasma_membrane1.90003296
24MP0010094_abnormal_chromosome_stability1.87438476
25MP0003183_abnormal_peptide_metabolism1.82884409
26MP0002161_abnormal_fertility/fecundity1.81007777
27MP0000653_abnormal_sex_gland1.80367375
28MP0010307_abnormal_tumor_latency1.73393761
29MP0003111_abnormal_nucleus_morphology1.71608778
30MP0001119_abnormal_female_reproductive1.66372091
31MP0000566_synostosis1.66086848
32MP0005410_abnormal_fertilization1.63950061
33MP0009840_abnormal_foam_cell1.60871342
34MP0001730_embryonic_growth_arrest1.56338061
35MP0010368_abnormal_lymphatic_system1.53271697
36MP0003121_genomic_imprinting1.53093573
37MP0002160_abnormal_reproductive_system1.31955400
38MP0005389_reproductive_system_phenotype1.28013019
39MP0001293_anophthalmia1.27572085
40MP0005646_abnormal_pituitary_gland1.25962403
41MP0008932_abnormal_embryonic_tissue1.25616887
42MP0000631_abnormal_neuroendocrine_gland1.23614657
43MP0001145_abnormal_male_reproductive1.20779826
44MP0003252_abnormal_bile_duct1.16618281
45MP0000762_abnormal_tongue_morphology1.15556237
46MP0001986_abnormal_taste_sensitivity1.12548353
47MP0005647_abnormal_sex_gland1.12509404
48MP0001672_abnormal_embryogenesis/_devel1.12364128
49MP0005380_embryogenesis_phenotype1.12364128
50MP0002233_abnormal_nose_morphology1.07604202
51MP0003698_abnormal_male_reproductive1.05238704
52MP0000427_abnormal_hair_cycle1.01301014
53MP0000350_abnormal_cell_proliferation0.92222393
54MP0010678_abnormal_skin_adnexa0.91489184
55MP0001664_abnormal_digestion0.89250113
56MP0003119_abnormal_digestive_system0.89137421
57MP0001984_abnormal_olfaction0.88016170
58MP0004142_abnormal_muscle_tone0.87995719
59MP0002272_abnormal_nervous_system0.84875833
60MP0001666_abnormal_nutrient_absorption0.84524361
61MP0003136_yellow_coat_color0.83396767
62MP0006276_abnormal_autonomic_nervous0.79996211
63MP0001919_abnormal_reproductive_system0.79577409
64MP0009379_abnormal_foot_pigmentation0.79122286
65MP0005085_abnormal_gallbladder_physiolo0.76760585
66MP0003868_abnormal_feces_composition0.75501257
67MP0004957_abnormal_blastocyst_morpholog0.72716308
68MP0000049_abnormal_middle_ear0.67970265
69MP0001324_abnormal_eye_pigmentation0.66336823
70MP0000678_abnormal_parathyroid_gland0.65628574
71MP0005551_abnormal_eye_electrophysiolog0.65237066
72MP0002127_abnormal_cardiovascular_syste0.63916614
73MP0002084_abnormal_developmental_patter0.62733922
74MP0002089_abnormal_postnatal_growth/wei0.62444787
75MP0001502_abnormal_circadian_rhythm0.59970589
76MP0003941_abnormal_skin_development0.57725651
77MP0003959_abnormal_lean_body0.57271512
78MP0000015_abnormal_ear_pigmentation0.52683097
79MP0002796_impaired_skin_barrier0.52291396
80MP0005076_abnormal_cell_differentiation0.51549628
81MP0000733_abnormal_muscle_development0.50090733
82MP0001963_abnormal_hearing_physiology0.49810935
83MP0005501_abnormal_skin_physiology0.49411393
84MP0002085_abnormal_embryonic_tissue0.49045110
85MP0005409_darkened_coat_color0.48810180
86MP0003984_embryonic_growth_retardation0.48048550
87MP0005075_abnormal_melanosome_morpholog0.47499305
88MP0001697_abnormal_embryo_size0.45529298
89MP0003935_abnormal_craniofacial_develop0.45466193
90MP0002088_abnormal_embryonic_growth/wei0.43899084
91MP0002928_abnormal_bile_duct0.41908705
92MP0003755_abnormal_palate_morphology0.39755640
93MP0002873_normal_phenotype0.39421638
94MP0000383_abnormal_hair_follicle0.38973172
95MP0000428_abnormal_craniofacial_morphol0.38877348
96MP0002169_no_abnormal_phenotype0.38874463
97MP0008995_early_reproductive_senescence0.37457084
98MP0001881_abnormal_mammary_gland0.37171689
99MP0000313_abnormal_cell_death0.36538057
100MP0000377_abnormal_hair_follicle0.36006289

Predicted human phenotypes

RankGene SetZ-score
1Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)6.18920985
2Aplasia/Hypoplasia of the fovea (HP:0008060)5.59391452
3Hypoplasia of the fovea (HP:0007750)5.59391452
4Anterior segment dysgenesis (HP:0007700)5.43369914
5Impulsivity (HP:0100710)5.27222927
6Abnormality of abdominal situs (HP:0011620)5.21648795
7Abdominal situs inversus (HP:0003363)5.21648795
8Osteomalacia (HP:0002749)4.89577579
9Supernumerary spleens (HP:0009799)4.84515976
10Lip pit (HP:0100267)4.79306273
11Male infertility (HP:0003251)4.77147552
12Abnormality of the fovea (HP:0000493)4.65919990
13Cholecystitis (HP:0001082)4.63870031
14Abnormal gallbladder physiology (HP:0012438)4.63870031
15Papillary thyroid carcinoma (HP:0002895)4.52983887
16Facial hemangioma (HP:0000329)4.52800459
17Hypophosphatemic rickets (HP:0004912)4.32294242
18Infertility (HP:0000789)4.19189756
19Septo-optic dysplasia (HP:0100842)3.96582496
20Premature ovarian failure (HP:0008209)3.80137836
21Chromsome breakage (HP:0040012)3.76101945
22Apathy (HP:0000741)3.66670239
23Chromosomal breakage induced by crosslinking agents (HP:0003221)3.64769419
24Oligodactyly (hands) (HP:0001180)3.62809895
25Azoospermia (HP:0000027)3.59367378
26Aplasia/Hypoplasia of the macula (HP:0008059)3.57415187
27Diminished motivation (HP:0000745)3.50818717
28Malnutrition (HP:0004395)3.42257802
29Aplasia/Hypoplasia affecting the retina (HP:0008061)3.27817969
30Hypokinesia (HP:0002375)3.22878702
31Median cleft lip (HP:0000161)3.12878439
32Absent septum pellucidum (HP:0001331)3.10457428
33Gonadotropin excess (HP:0000837)3.07850492
34Hypergonadotropic hypogonadism (HP:0000815)2.96524614
35Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.92540274
36Truncal obesity (HP:0001956)2.78185770
37Capillary hemangiomas (HP:0005306)2.76735173
38Aplasia of the musculature (HP:0100854)2.72666143
39Abnormal spermatogenesis (HP:0008669)2.71578773
40Spinal cord compression (HP:0002176)2.69089362
41Oligodactyly (HP:0012165)2.68608412
42Abnormality of the labia minora (HP:0012880)2.68463807
43Short tibia (HP:0005736)2.67872197
44Urethral obstruction (HP:0000796)2.67209285
45Abnormality of the septum pellucidum (HP:0007375)2.65551915
46Lower limb hyperreflexia (HP:0002395)2.61365904
47Myokymia (HP:0002411)2.57152934
48Metaphyseal irregularity (HP:0003025)2.48650504
49Skin pits (HP:0100276)2.47353503
50Thyroid carcinoma (HP:0002890)2.47330772
51Secondary amenorrhea (HP:0000869)2.46899832
52Loss of speech (HP:0002371)2.46650670
53Muscle stiffness (HP:0003552)2.34567310
54Conjunctival telangiectasia (HP:0000524)2.34316400
55Aplasia/Hypoplasia of the tibia (HP:0005772)2.33858639
56Abnormality of the anterior chamber (HP:0000593)2.29883741
57Anhidrosis (HP:0000970)2.29533298
58Striae distensae (HP:0001065)2.29407147
59Enlarged penis (HP:0000040)2.28002162
60Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.24216840
61Wrist flexion contracture (HP:0001239)2.23802903
62Dysdiadochokinesis (HP:0002075)2.21580451
63Intrahepatic cholestasis (HP:0001406)2.18346867
64Bundle branch block (HP:0011710)2.16247435
65Fair hair (HP:0002286)2.15282420
66Posterior subcapsular cataract (HP:0007787)2.14206974
67Maternal diabetes (HP:0009800)2.12128323
68Congenital sensorineural hearing impairment (HP:0008527)2.11181941
69Subcapsular cataract (HP:0000523)2.07488528
70Increased circulating renin level (HP:0000848)2.07033162
71Proximal tubulopathy (HP:0000114)2.06509929
72Aplasia/Hypoplasia of the tongue (HP:0010295)2.05801236
73Nephroblastoma (Wilms tumor) (HP:0002667)1.93972349
74Hypercortisolism (HP:0001578)1.92521055
75Bile duct proliferation (HP:0001408)1.91773933
76Abnormal biliary tract physiology (HP:0012439)1.91773933
77Generalized aminoaciduria (HP:0002909)1.91087874
78Abnormality of chromosome stability (HP:0003220)1.90738931
79Aplasia/Hypoplasia of the uvula (HP:0010293)1.89837109
80Heterotopia (HP:0002282)1.89644011
81Pulmonary fibrosis (HP:0002206)1.88547501
82Abnormality of monocarboxylic acid metabolism (HP:0010996)1.88078501
83Abnormal ciliary motility (HP:0012262)1.87582945
84Sensory axonal neuropathy (HP:0003390)1.84097090
85Stillbirth (HP:0003826)1.83963857
86Cone-rod dystrophy (HP:0000548)1.83902935
87Embryonal renal neoplasm (HP:0011794)1.82163784
88Abnormality of the preputium (HP:0100587)1.80215011
89Abnormality of the phalanges of the hallux (HP:0010057)1.80147909
90Abnormal lung lobation (HP:0002101)1.79977984
91Abnormality of the vasculature of the conjunctiva (HP:0008054)1.78829186
92Meckel diverticulum (HP:0002245)1.78024144
93Small intestinal stenosis (HP:0012848)1.77335737
94Duodenal stenosis (HP:0100867)1.77335737
95Hydroureter (HP:0000072)1.76792474
96Supranuclear gaze palsy (HP:0000605)1.75040485
97Abnormality of calcium-phosphate metabolism (HP:0100530)1.74359542
98Microglossia (HP:0000171)1.72499262
99Abnormality of the ileum (HP:0001549)1.69243203
100Limb hypertonia (HP:0002509)1.69129051

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K96.18561127
2MAP3K135.57185942
3ARAF5.48353459
4CDK123.95147094
5NEK63.21514051
6TAOK33.06156629
7TTK2.97094742
8STK242.87986534
9BRAF2.76399354
10AURKA2.45547424
11MOS2.38339877
12CDK92.34891654
13MET2.22435802
14CDC72.02102427
15NTRK21.82836162
16KSR21.80639651
17RAF11.75297358
18TRIM281.66806688
19MELK1.62269757
20PRKCI1.59672254
21CDK71.49280684
22TNIK1.36588176
23PLK11.34607483
24BUB11.26710117
25EIF2AK31.24410902
26STK31.23176182
27BRSK11.21286247
28KSR11.14782739
29CHEK11.03894865
30PTK21.02845348
31CAMK1D1.01081428
32WNK11.00712489
33MAP3K80.96408153
34PIM10.93307308
35NEK20.90392830
36MST40.79840092
37CDK20.79818042
38MARK30.78559723
39CDK190.77960919
40EEF2K0.77487515
41TGFBR10.76971049
42CDK80.76463319
43TNK20.76292990
44AURKB0.75532499
45ZAK0.74329324
46CSNK1G10.73055571
47MTOR0.72906079
48MAPKAPK30.68663403
49BRD40.67748197
50CHEK20.67477726
51ATM0.65543889
52PLK30.64384524
53TIE10.61244597
54CAMK1G0.61101048
55DMPK0.61072575
56NUAK10.60918354
57CSNK1D0.59796117
58NEK90.57977496
59PAK10.57498846
60CDK10.56222761
61NTRK30.54730440
62BMPR1B0.53249645
63STK390.52715598
64PRKG10.49941488
65PRKCZ0.49146500
66BRSK20.45874435
67CSNK1E0.45752692
68LRRK20.44202899
69SRPK10.44067682
70CSNK1G30.44011652
71ATR0.43250285
72PKN10.41751760
73MAPK130.39350418
74MAP3K50.38994853
75CDK50.37736541
76PDK10.34247420
77TESK20.33220841
78GSK3B0.32949081
79MAPK110.30467872
80MAPK100.29105069
81MAPK10.28749213
82CSNK1A1L0.28230563
83PRKACB0.28048372
84PBK0.27165342
85CHUK0.25320278
86CAMK2A0.24988938
87TLK10.24420653
88PRKACA0.23726663
89AKT20.23579262
90LATS20.22819071
91CSNK1G20.21825282
92VRK10.20812279
93MARK20.20747089
94CLK10.20400069
95TRPM70.19786633
96TYRO30.19619940
97CAMK40.18651721
98CDC42BPA0.17084734
99PDPK10.16055087
100ACVR1B0.15201333

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030225.26693492
2Cell cycle_Homo sapiens_hsa041104.45405644
3Ovarian steroidogenesis_Homo sapiens_hsa049134.39001304
4Mismatch repair_Homo sapiens_hsa034303.39952854
5Oocyte meiosis_Homo sapiens_hsa041143.36216227
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.31292242
7Dorso-ventral axis formation_Homo sapiens_hsa043202.77908701
8Progesterone-mediated oocyte maturation_Homo sapiens_hsa049142.76179621
9Caffeine metabolism_Homo sapiens_hsa002322.64068300
10Base excision repair_Homo sapiens_hsa034102.63723263
11RNA degradation_Homo sapiens_hsa030182.54484644
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.30175301
13DNA replication_Homo sapiens_hsa030302.17101308
14Cysteine and methionine metabolism_Homo sapiens_hsa002702.13546930
15Nucleotide excision repair_Homo sapiens_hsa034202.08670769
16Fanconi anemia pathway_Homo sapiens_hsa034602.08177399
17RNA transport_Homo sapiens_hsa030131.97394242
18Homologous recombination_Homo sapiens_hsa034401.91182107
19p53 signaling pathway_Homo sapiens_hsa041151.91027460
20Circadian rhythm_Homo sapiens_hsa047101.81752433
21Gap junction_Homo sapiens_hsa045401.78168572
22Olfactory transduction_Homo sapiens_hsa047401.69457977
23Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.65622486
24Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.59241714
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.52433532
26mRNA surveillance pathway_Homo sapiens_hsa030151.47250084
27Thyroid cancer_Homo sapiens_hsa052161.45488448
28Inositol phosphate metabolism_Homo sapiens_hsa005621.39972964
29Folate biosynthesis_Homo sapiens_hsa007901.28872311
30Phototransduction_Homo sapiens_hsa047441.18490969
31RNA polymerase_Homo sapiens_hsa030201.17319825
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13538107
33ABC transporters_Homo sapiens_hsa020101.08401800
34mTOR signaling pathway_Homo sapiens_hsa041500.99730134
35TGF-beta signaling pathway_Homo sapiens_hsa043500.91602465
36Bile secretion_Homo sapiens_hsa049760.89046358
37Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82483259
38GABAergic synapse_Homo sapiens_hsa047270.81412778
39Taste transduction_Homo sapiens_hsa047420.81198722
40Nicotine addiction_Homo sapiens_hsa050330.80237989
41Morphine addiction_Homo sapiens_hsa050320.78586356
42MicroRNAs in cancer_Homo sapiens_hsa052060.78075044
43FoxO signaling pathway_Homo sapiens_hsa040680.75530815
44SNARE interactions in vesicular transport_Homo sapiens_hsa041300.71070106
45Adherens junction_Homo sapiens_hsa045200.67966785
46Herpes simplex infection_Homo sapiens_hsa051680.57656040
47Aldosterone synthesis and secretion_Homo sapiens_hsa049250.56563204
48Lysine degradation_Homo sapiens_hsa003100.55638486
49Long-term depression_Homo sapiens_hsa047300.53199526
50Fatty acid elongation_Homo sapiens_hsa000620.53163193
51Viral carcinogenesis_Homo sapiens_hsa052030.51735326
52Purine metabolism_Homo sapiens_hsa002300.51166631
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.51100750
54Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49409331
55Notch signaling pathway_Homo sapiens_hsa043300.48915530
56Synaptic vesicle cycle_Homo sapiens_hsa047210.48011264
57Serotonergic synapse_Homo sapiens_hsa047260.47948796
58Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45299838
59Wnt signaling pathway_Homo sapiens_hsa043100.44657208
60Small cell lung cancer_Homo sapiens_hsa052220.39873650
61ErbB signaling pathway_Homo sapiens_hsa040120.39401504
62Regulation of autophagy_Homo sapiens_hsa041400.39379614
63Hippo signaling pathway_Homo sapiens_hsa043900.34651357
64Vitamin digestion and absorption_Homo sapiens_hsa049770.31976717
65Glycosaminoglycan degradation_Homo sapiens_hsa005310.31974850
66Endometrial cancer_Homo sapiens_hsa052130.31894048
67Arginine biosynthesis_Homo sapiens_hsa002200.31026206
68Ras signaling pathway_Homo sapiens_hsa040140.30451617
69HTLV-I infection_Homo sapiens_hsa051660.29108165
70Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27727594
71Renal cell carcinoma_Homo sapiens_hsa052110.25887468
72Phagosome_Homo sapiens_hsa041450.24627416
73Protein digestion and absorption_Homo sapiens_hsa049740.23264917
74cAMP signaling pathway_Homo sapiens_hsa040240.22918164
75cGMP-PKG signaling pathway_Homo sapiens_hsa040220.21268413
76Prostate cancer_Homo sapiens_hsa052150.21075012
77Influenza A_Homo sapiens_hsa051640.19918047
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.19692723
79HIF-1 signaling pathway_Homo sapiens_hsa040660.19339742
80Spliceosome_Homo sapiens_hsa030400.19337040
81Huntingtons disease_Homo sapiens_hsa050160.19091504
82Oxytocin signaling pathway_Homo sapiens_hsa049210.18496111
83Cholinergic synapse_Homo sapiens_hsa047250.18364988
84Long-term potentiation_Homo sapiens_hsa047200.18135697
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.17557610
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.17459598
87Arginine and proline metabolism_Homo sapiens_hsa003300.17447239
88Hepatitis B_Homo sapiens_hsa051610.16420931
89Non-small cell lung cancer_Homo sapiens_hsa052230.13706788
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.13467495
91Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.13313821
92PI3K-Akt signaling pathway_Homo sapiens_hsa041510.12378504
93Insulin signaling pathway_Homo sapiens_hsa049100.11838079
94Amoebiasis_Homo sapiens_hsa051460.10834656
95Circadian entrainment_Homo sapiens_hsa047130.09656012
96MAPK signaling pathway_Homo sapiens_hsa040100.09063927
97Regulation of actin cytoskeleton_Homo sapiens_hsa048100.08914554
98Melanogenesis_Homo sapiens_hsa049160.08280641
99Pathways in cancer_Homo sapiens_hsa052000.07694093
100Tight junction_Homo sapiens_hsa045300.07665987

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