NLRP8

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 member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1multicellular organism reproduction (GO:0032504)9.05241804
2regulation of female gonad development (GO:2000194)8.13050734
3protein kinase C signaling (GO:0070528)5.97177239
4oocyte development (GO:0048599)5.96882556
5reproduction (GO:0000003)5.81537608
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.78965089
7piRNA metabolic process (GO:0034587)5.62365021
8DNA methylation involved in gamete generation (GO:0043046)5.44704451
9positive regulation of humoral immune response (GO:0002922)5.42534294
10behavioral response to nicotine (GO:0035095)5.42396889
11negative regulation of reproductive process (GO:2000242)4.94678343
12retinal cone cell development (GO:0046549)4.76288148
13meiotic cell cycle (GO:0051321)4.64352220
14regulation of hypersensitivity (GO:0002883)4.58196348
15regulation of DNA methylation (GO:0044030)4.51968005
16regulation of calcium ion-dependent exocytosis (GO:0017158)4.44281538
17L-fucose catabolic process (GO:0042355)4.19504075
18fucose catabolic process (GO:0019317)4.19504075
19L-fucose metabolic process (GO:0042354)4.19504075
20single fertilization (GO:0007338)4.17076900
21sperm-egg recognition (GO:0035036)4.13597962
22binding of sperm to zona pellucida (GO:0007339)4.07807616
23female gamete generation (GO:0007292)4.01359541
24positive regulation of histone H3-K4 methylation (GO:0051571)3.99392117
25fertilization (GO:0009566)3.85800991
26regulation of meiosis I (GO:0060631)3.82652925
27regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.78765950
28regulation of phospholipid biosynthetic process (GO:0071071)3.78249285
29positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.77858769
30citrulline biosynthetic process (GO:0019240)3.76978488
31male meiosis I (GO:0007141)3.63566703
32cell-cell recognition (GO:0009988)3.48720540
33DNA deamination (GO:0045006)3.41072749
34epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.36451068
35regulation of steroid hormone secretion (GO:2000831)3.32417464
36protein polyglutamylation (GO:0018095)3.27284220
37gene silencing by RNA (GO:0031047)3.26122393
38response to pheromone (GO:0019236)3.25203229
39DNA alkylation (GO:0006305)3.18722436
40DNA methylation (GO:0006306)3.18722436
41negative regulation of transcription regulatory region DNA binding (GO:2000678)3.15949720
42regulation of histone H3-K9 methylation (GO:0051570)3.11357209
43regulation of nuclear cell cycle DNA replication (GO:0033262)3.11075957
44synapsis (GO:0007129)3.02636518
45protein K11-linked deubiquitination (GO:0035871)2.99022523
46detection of light stimulus involved in sensory perception (GO:0050962)2.97235131
47detection of light stimulus involved in visual perception (GO:0050908)2.97235131
48positive regulation of meiosis (GO:0045836)2.95486177
49male meiosis (GO:0007140)2.93139023
50positive regulation of gastrulation (GO:2000543)2.93084742
51gamma-aminobutyric acid transport (GO:0015812)2.91085798
52water-soluble vitamin biosynthetic process (GO:0042364)2.89001096
53positive regulation of calcium ion import (GO:0090280)2.88591418
54phosphorelay signal transduction system (GO:0000160)2.84069629
55somite rostral/caudal axis specification (GO:0032525)2.83557500
56positive regulation of reproductive process (GO:2000243)2.83454930
57centriole replication (GO:0007099)2.82023647
58cAMP catabolic process (GO:0006198)2.80179676
59meiosis I (GO:0007127)2.77547451
60positive regulation of meiotic cell cycle (GO:0051446)2.76709726
61DNA methylation or demethylation (GO:0044728)2.76283603
62negative regulation of execution phase of apoptosis (GO:1900118)2.74803031
63epithelial cilium movement (GO:0003351)2.74184637
64platelet dense granule organization (GO:0060155)2.67079676
65regulation of microtubule-based movement (GO:0060632)2.66253226
66glycine transport (GO:0015816)2.65658662
67DNA modification (GO:0006304)2.63853661
68positive regulation of defense response to virus by host (GO:0002230)2.62554026
69photoreceptor cell development (GO:0042461)2.61951189
70DNA replication checkpoint (GO:0000076)2.61797695
71negative regulation of telomere maintenance (GO:0032205)2.59470877
72positive regulation of steroid hormone secretion (GO:2000833)2.57815342
73protein K6-linked ubiquitination (GO:0085020)2.57810230
74glycerophospholipid catabolic process (GO:0046475)2.57769063
75regulation of reproductive process (GO:2000241)2.56588219
76regulation of cilium movement (GO:0003352)2.55951574
77detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.55591757
78regulation of action potential (GO:0098900)2.55516922
79indolalkylamine metabolic process (GO:0006586)2.54734615
80negative regulation of cytosolic calcium ion concentration (GO:0051481)2.54442507
81axoneme assembly (GO:0035082)2.52915371
82cellular ketone body metabolic process (GO:0046950)2.50044916
83RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.49483214
84mitochondrial respiratory chain complex I assembly (GO:0032981)2.49106383
85NADH dehydrogenase complex assembly (GO:0010257)2.49106383
86mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.49106383
87startle response (GO:0001964)2.48713968
88indole-containing compound catabolic process (GO:0042436)2.46316286
89indolalkylamine catabolic process (GO:0046218)2.46316286
90tryptophan catabolic process (GO:0006569)2.46316286
91cyclic nucleotide catabolic process (GO:0009214)2.46242007
92rRNA catabolic process (GO:0016075)2.45509541
93interkinetic nuclear migration (GO:0022027)2.45278542
94negative regulation of mast cell activation (GO:0033004)2.42382457
95negative regulation of DNA-dependent DNA replication (GO:2000104)2.41481565
96regulation of cell maturation (GO:1903429)2.41058636
97eye photoreceptor cell development (GO:0042462)2.39968549
98positive regulation of prostaglandin secretion (GO:0032308)2.39214379
99behavioral response to ethanol (GO:0048149)2.39147553
100regulation of acrosome reaction (GO:0060046)10.3091188

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human9.77343003
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.51963743
3ZNF274_21170338_ChIP-Seq_K562_Hela3.29674011
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.18705010
5GBX2_23144817_ChIP-Seq_PC3_Human2.81501315
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.39401887
7VDR_22108803_ChIP-Seq_LS180_Human2.38621084
8NOTCH1_21737748_ChIP-Seq_TLL_Human2.36014408
9BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.22515915
10ZFP57_27257070_Chip-Seq_ESCs_Mouse1.97628817
11P300_19829295_ChIP-Seq_ESCs_Human1.82080232
12EWS_26573619_Chip-Seq_HEK293_Human1.80538626
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.80273470
14CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78130120
15CTBP2_25329375_ChIP-Seq_LNCAP_Human1.77375700
16RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72594108
17FLI1_27457419_Chip-Seq_LIVER_Mouse1.72519611
18EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.71058215
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.66481104
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.61327208
21POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60171266
22SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59223546
23IGF1R_20145208_ChIP-Seq_DFB_Human1.58417337
24TAF15_26573619_Chip-Seq_HEK293_Human1.54202074
25UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49933909
26BCAT_22108803_ChIP-Seq_LS180_Human1.48063363
27TP53_22573176_ChIP-Seq_HFKS_Human1.47936873
28ER_23166858_ChIP-Seq_MCF-7_Human1.47135555
29TCF4_23295773_ChIP-Seq_U87_Human1.46818627
30AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.46793534
31POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.44322883
32TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44322883
33AR_25329375_ChIP-Seq_VCAP_Human1.43125586
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.42361860
35IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42140388
36CBP_20019798_ChIP-Seq_JUKART_Human1.42140388
37SMAD4_21799915_ChIP-Seq_A2780_Human1.42126512
38FUS_26573619_Chip-Seq_HEK293_Human1.39928301
39IRF1_19129219_ChIP-ChIP_H3396_Human1.38405702
40STAT3_23295773_ChIP-Seq_U87_Human1.38367988
41GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.37976946
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.36942602
43MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36297500
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36116035
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33417895
46MYC_18940864_ChIP-ChIP_HL60_Human1.32737673
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31815179
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.30983810
49REST_21632747_ChIP-Seq_MESCs_Mouse1.29995368
50SMAD3_21741376_ChIP-Seq_EPCs_Human1.28567476
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26802745
52SMAD4_21741376_ChIP-Seq_EPCs_Human1.25645388
53TCF4_22108803_ChIP-Seq_LS180_Human1.22722425
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.19988947
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.19988947
56TP63_19390658_ChIP-ChIP_HaCaT_Human1.19987446
57GATA3_21878914_ChIP-Seq_MCF-7_Human1.18197729
58RUNX2_22187159_ChIP-Seq_PCA_Human1.17549104
59* PRDM14_20953172_ChIP-Seq_ESCs_Human1.17498304
60MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15568132
61AR_20517297_ChIP-Seq_VCAP_Human1.14557215
62* NCOR_22424771_ChIP-Seq_293T_Human1.13019870
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11977960
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11621243
65SOX2_19829295_ChIP-Seq_ESCs_Human1.11095662
66NANOG_19829295_ChIP-Seq_ESCs_Human1.11095662
67PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10547255
68GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.10081636
69EZH2_27294783_Chip-Seq_NPCs_Mouse1.10034294
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09253940
71NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08090506
72EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06729967
73FOXH1_21741376_ChIP-Seq_EPCs_Human1.05970386
74CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05396555
75CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05042592
76NFE2_27457419_Chip-Seq_LIVER_Mouse1.04057775
77NANOG_20526341_ChIP-Seq_ESCs_Human1.01219797
78CDX2_22108803_ChIP-Seq_LS180_Human1.00477949
79FLI1_21867929_ChIP-Seq_TH2_Mouse1.00185408
80CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.99761978
81* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.99456246
82SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99336371
83EST1_17652178_ChIP-ChIP_JURKAT_Human0.99170460
84HOXB7_26014856_ChIP-Seq_BT474_Human0.98901324
85GABP_17652178_ChIP-ChIP_JURKAT_Human0.98491709
86NANOG_18555785_Chip-Seq_ESCs_Mouse0.98086603
87* FOXA1_21572438_ChIP-Seq_LNCaP_Human0.96175688
88CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.95998303
89KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.95855547
90TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95596213
91RNF2_27304074_Chip-Seq_NSC_Mouse0.93380956
92TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93116736
93* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.93088627
94CRX_20693478_ChIP-Seq_RETINA_Mouse0.92129584
95AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91124712
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90191959
97TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88363546
98CBX2_27304074_Chip-Seq_ESCs_Mouse0.88267980
99MYC_19829295_ChIP-Seq_ESCs_Human0.88196761
100OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87154687

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003718_maternal_effect5.20784087
2MP0008877_abnormal_DNA_methylation4.31209126
3MP0006292_abnormal_olfactory_placode3.27468675
4MP0005646_abnormal_pituitary_gland2.62736525
5MP0003195_calcinosis2.47857871
6MP0008789_abnormal_olfactory_epithelium2.34749161
7MP0005551_abnormal_eye_electrophysiolog2.28231334
8MP0002138_abnormal_hepatobiliary_system2.24982461
9MP0001984_abnormal_olfaction2.16886492
10MP0006072_abnormal_retinal_apoptosis2.09379967
11MP0005395_other_phenotype2.08268890
12MP0004142_abnormal_muscle_tone2.01715823
13MP0001929_abnormal_gametogenesis1.91148544
14MP0005389_reproductive_system_phenotype1.87549490
15MP0005394_taste/olfaction_phenotype1.85212786
16MP0005499_abnormal_olfactory_system1.85212786
17MP0000427_abnormal_hair_cycle1.85080584
18MP0003646_muscle_fatigue1.81557716
19MP0000631_abnormal_neuroendocrine_gland1.77515493
20MP0002272_abnormal_nervous_system1.73133654
21MP0001968_abnormal_touch/_nociception1.71208845
22MP0002163_abnormal_gland_morphology1.70956335
23MP0003890_abnormal_embryonic-extraembry1.70951326
24MP0001986_abnormal_taste_sensitivity1.70886246
25MP0001919_abnormal_reproductive_system1.67680388
26MP0009745_abnormal_behavioral_response1.64906336
27MP0005645_abnormal_hypothalamus_physiol1.63140744
28MP0003699_abnormal_female_reproductive1.62659258
29MP0004043_abnormal_pH_regulation1.57612560
30MP0001119_abnormal_female_reproductive1.57414794
31MP0000372_irregular_coat_pigmentation1.56236001
32MP0002210_abnormal_sex_determination1.54597806
33MP0002837_dystrophic_cardiac_calcinosis1.53786396
34MP0002653_abnormal_ependyma_morphology1.52998323
35MP0002139_abnormal_hepatobiliary_system1.52493175
36MP0002876_abnormal_thyroid_physiology1.52197115
37MP0006276_abnormal_autonomic_nervous1.47655463
38MP0002160_abnormal_reproductive_system1.46679738
39MP0005410_abnormal_fertilization1.44388716
40MP0000653_abnormal_sex_gland1.42132289
41MP0002638_abnormal_pupillary_reflex1.41474695
42MP0005253_abnormal_eye_physiology1.39166381
43MP0002234_abnormal_pharynx_morphology1.37953928
44MP0008875_abnormal_xenobiotic_pharmacok1.35487908
45MP0002102_abnormal_ear_morphology1.34285665
46MP0003136_yellow_coat_color1.33216246
47MP0005379_endocrine/exocrine_gland_phen1.32698027
48MP0003693_abnormal_embryo_hatching1.30933782
49MP0002736_abnormal_nociception_after1.30790823
50MP0004885_abnormal_endolymph1.27943856
51MP0001486_abnormal_startle_reflex1.23560506
52MP0009046_muscle_twitch1.23263223
53MP0001501_abnormal_sleep_pattern1.23055078
54MP0008058_abnormal_DNA_repair1.21611660
55MP0003880_abnormal_central_pattern1.21564131
56MP0008872_abnormal_physiological_respon1.18367724
57MP0002572_abnormal_emotion/affect_behav1.17162064
58MP0003121_genomic_imprinting1.15547378
59MP0003567_abnormal_fetal_cardiomyocyte1.11562106
60MP0002161_abnormal_fertility/fecundity1.11373690
61MP0002735_abnormal_chemical_nociception1.10283346
62MP0008057_abnormal_DNA_replication1.09996207
63MP0002928_abnormal_bile_duct1.09868857
64MP0005360_urolithiasis1.08950516
65MP0003698_abnormal_male_reproductive1.06880395
66MP0003183_abnormal_peptide_metabolism1.06242260
67MP0001905_abnormal_dopamine_level1.04669535
68MP0005174_abnormal_tail_pigmentation1.04440911
69MP0003879_abnormal_hair_cell1.04203001
70MP0000383_abnormal_hair_follicle1.01662585
71MP0002557_abnormal_social/conspecific_i1.01555380
72MP0001502_abnormal_circadian_rhythm1.00554770
73MP0002064_seizures1.00320540
74MP0002938_white_spotting0.99634559
75MP0004133_heterotaxia0.98935759
76MP0003787_abnormal_imprinting0.97001421
77MP0001529_abnormal_vocalization0.94217226
78MP0002063_abnormal_learning/memory/cond0.91396862
79MP0005647_abnormal_sex_gland0.91094778
80MP0003635_abnormal_synaptic_transmissio0.90867355
81MP0001764_abnormal_homeostasis0.90444749
82MP0005075_abnormal_melanosome_morpholog0.89584797
83MP0001145_abnormal_male_reproductive0.88768460
84MP0002095_abnormal_skin_pigmentation0.87003616
85MP0002909_abnormal_adrenal_gland0.85453672
86MP0005195_abnormal_posterior_eye0.84609228
87MP0003950_abnormal_plasma_membrane0.83987390
88MP0002734_abnormal_mechanical_nocicepti0.83659837
89MP0002733_abnormal_thermal_nociception0.83179824
90MP0003252_abnormal_bile_duct0.82261366
91MP0002229_neurodegeneration0.82130682
92MP0001970_abnormal_pain_threshold0.81480471
93MP0001324_abnormal_eye_pigmentation0.81407287
94MP0001485_abnormal_pinna_reflex0.80186836
95MP0002067_abnormal_sensory_capabilities0.79686849
96MP0004924_abnormal_behavior0.78765861
97MP0005386_behavior/neurological_phenoty0.78765861
98MP0002277_abnormal_respiratory_mucosa0.78186707
99MP0004145_abnormal_muscle_electrophysio0.74586218
100MP0002751_abnormal_autonomic_nervous0.74540596

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.03044212
2Abnormality of midbrain morphology (HP:0002418)3.89009880
3Molar tooth sign on MRI (HP:0002419)3.89009880
4Aplasia/Hypoplasia of the fovea (HP:0008060)3.76282555
5Hypoplasia of the fovea (HP:0007750)3.76282555
6Pancreatic fibrosis (HP:0100732)3.45031608
7Abnormality of the fovea (HP:0000493)3.29808653
8Anterior segment dysgenesis (HP:0007700)3.27730950
9Nephronophthisis (HP:0000090)3.20814569
10True hermaphroditism (HP:0010459)3.15115939
11Abnormality of the renal cortex (HP:0011035)3.05926462
12Congenital stationary night blindness (HP:0007642)3.01125011
13Abnormality of the renal medulla (HP:0100957)2.89438272
14Decreased circulating renin level (HP:0003351)2.86836210
15Chronic hepatic failure (HP:0100626)2.85085127
16Attenuation of retinal blood vessels (HP:0007843)2.78553272
17Pendular nystagmus (HP:0012043)2.76382583
18Medial flaring of the eyebrow (HP:0010747)2.72760845
19Methylmalonic acidemia (HP:0002912)2.68389979
20Abnormal drinking behavior (HP:0030082)2.60835454
21Polydipsia (HP:0001959)2.60835454
22Type II lissencephaly (HP:0007260)2.60810121
23Tubular atrophy (HP:0000092)2.59637013
24Abnormality of the labia minora (HP:0012880)2.58458846
25Bile duct proliferation (HP:0001408)2.58243685
26Abnormal biliary tract physiology (HP:0012439)2.58243685
27Aplasia/Hypoplasia of the tongue (HP:0010295)2.54100381
28Supernumerary spleens (HP:0009799)2.49923166
29Impulsivity (HP:0100710)2.45751132
30Cystic liver disease (HP:0006706)2.44547722
31Abolished electroretinogram (ERG) (HP:0000550)2.43683045
32Abnormal rod and cone electroretinograms (HP:0008323)2.39757683
33Aplasia/Hypoplasia of the uvula (HP:0010293)2.32540152
343-Methylglutaconic aciduria (HP:0003535)2.31983915
35Abdominal situs inversus (HP:0003363)2.30527902
36Abnormality of abdominal situs (HP:0011620)2.30527902
37Gaze-evoked nystagmus (HP:0000640)2.30247986
38Septo-optic dysplasia (HP:0100842)2.26052068
39Aplasia/Hypoplasia of the tibia (HP:0005772)2.22936619
40Sclerocornea (HP:0000647)2.21794200
41Bony spicule pigmentary retinopathy (HP:0007737)2.21736682
42Oligodactyly (hands) (HP:0001180)2.21293585
43Congenital sensorineural hearing impairment (HP:0008527)2.19716920
44Aplasia/Hypoplasia of the macula (HP:0008059)2.18284948
45Renal cortical cysts (HP:0000803)2.16264862
46Absent rod-and cone-mediated responses on ERG (HP:0007688)2.15616123
47Progressive inability to walk (HP:0002505)2.14270171
48Abnormality of the ileum (HP:0001549)2.13752392
49Decreased central vision (HP:0007663)2.11698348
50Keratoconus (HP:0000563)2.10988330
51Increased corneal curvature (HP:0100692)2.10988330
52Gait imbalance (HP:0002141)2.09522383
53Congenital primary aphakia (HP:0007707)2.07581547
54Infertility (HP:0000789)2.07076563
55Methylmalonic aciduria (HP:0012120)2.06403909
56Meckel diverticulum (HP:0002245)2.05857300
57Absent/shortened dynein arms (HP:0200106)2.03396595
58Dynein arm defect of respiratory motile cilia (HP:0012255)2.03396595
59Aplasia/Hypoplasia affecting the retina (HP:0008061)2.03135546
60Polyuria (HP:0000103)2.01814718
61Absent thumb (HP:0009777)2.01475648
62Stomatitis (HP:0010280)2.01103561
63Optic nerve hypoplasia (HP:0000609)1.98593344
64Short tibia (HP:0005736)1.98199509
65Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.93321812
66Decreased electroretinogram (ERG) amplitude (HP:0000654)1.93066088
67Abnormality of DNA repair (HP:0003254)1.90535632
68Inability to walk (HP:0002540)1.89495335
69Abnormality of vitamin B metabolism (HP:0004340)1.89093655
70Stomach cancer (HP:0012126)1.89048731
71Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.88220573
72Congenital hepatic fibrosis (HP:0002612)1.87551800
73Aplasia/hypoplasia of the uterus (HP:0008684)1.87545294
74Nephrogenic diabetes insipidus (HP:0009806)1.83951039
75Anencephaly (HP:0002323)1.83789787
76Pachygyria (HP:0001302)1.82371473
77Aplasia/Hypoplasia involving the musculature (HP:0001460)1.79627766
78Hyperventilation (HP:0002883)1.78495759
79Postaxial foot polydactyly (HP:0001830)1.78449466
80Azoospermia (HP:0000027)1.77154736
81Abnormal ciliary motility (HP:0012262)1.76997129
82Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.76582131
83Abnormality of alanine metabolism (HP:0010916)1.76582131
84Hyperalaninemia (HP:0003348)1.76582131
85Clubbing of toes (HP:0100760)1.75494855
86Progressive cerebellar ataxia (HP:0002073)1.74753211
87Hypophosphatemic rickets (HP:0004912)1.74276025
88Hemiparesis (HP:0001269)1.73404374
89Genital tract atresia (HP:0001827)1.72876007
90Abnormality of the vitamin B12 metabolism (HP:0004341)1.72281522
91Abnormality of the pons (HP:0007361)1.71338781
92Large for gestational age (HP:0001520)1.69741518
93Homocystinuria (HP:0002156)1.69444424
94Abnormality of homocysteine metabolism (HP:0010919)1.69444424
95Hypomagnesemia (HP:0002917)1.69338092
96Hypoplasia of the uterus (HP:0000013)1.68540861
97Colon cancer (HP:0003003)1.68383170
98Hypergonadotropic hypogonadism (HP:0000815)1.67825580
99Furrowed tongue (HP:0000221)1.67804904
100Febrile seizures (HP:0002373)1.67454883

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.08431050
2TAOK34.33344677
3ADRBK23.09999255
4WNK32.81901841
5ZAK2.80219075
6BMPR1B2.74613292
7TLK12.63780566
8INSRR2.55596553
9PINK12.40089163
10MAP4K22.37736552
11NUAK12.17407775
12WNK42.06597750
13GRK12.03380730
14TNIK1.79399292
15TRIM281.71985836
16MAPKAPK31.66548410
17PLK41.64669734
18STK391.61284050
19MAPK131.60972390
20MST41.57450265
21MAP3K91.52844823
22TXK1.52600088
23NTRK31.40539859
24OXSR11.27676380
25NTRK21.16200365
26TGFBR11.13800402
27CAMK1D1.11796250
28MKNK21.06897469
29ACVR1B1.06642548
30CASK1.05854647
31EIF2AK31.03024500
32MAP3K41.02091758
33PRKCI1.01988481
34AURKA0.92777705
35STK38L0.88138052
36NME10.87708369
37PLK30.86896683
38STK30.86455825
39PRKCE0.85113809
40PLK20.83750097
41CSNK1G10.83402704
42VRK10.82662067
43PAK30.80452761
44TIE10.76986656
45PRKCG0.76100531
46PLK10.74337680
47MAPKAPK50.73945517
48CSNK1G20.73347479
49CSNK1G30.73244345
50CAMK1G0.72767888
51ADRBK10.71198811
52DAPK20.69305681
53IKBKB0.67740231
54CAMK2A0.66824300
55MAP3K130.65491856
56MUSK0.64404234
57TTK0.62801081
58CDK120.61005993
59CAMK10.60099075
60DYRK20.59188460
61PRKCQ0.57796851
62NEK60.56961948
63PRKACA0.54782209
64CDK90.54462753
65CSNK1A1L0.53580628
66TEC0.53162100
67PRKCZ0.52029235
68CSNK1D0.50622102
69MAP2K60.50564624
70ERBB30.50411669
71TNK20.50109340
72EPHA40.48368546
73PHKG20.48055600
74PHKG10.48055600
75STK110.47872708
76CHUK0.47595702
77PRKG10.47462139
78MET0.45972115
79ATM0.44406927
80PTK2B0.44399660
81BRSK20.43900273
82CAMKK20.43835428
83STK240.42509635
84CDK80.42266418
85BUB10.41985046
86NEK20.41656814
87STK160.41511122
88PRKAA10.41497138
89BRAF0.41103927
90MARK10.40992837
91CHEK20.40633739
92MAP2K20.39939636
93PIM10.37812173
94WNK10.37020316
95BCKDK0.36980318
96FGFR20.36794232
97PRKAA20.36351001
98PRKCA0.35719360
99ARAF0.35680392
100ITK0.34233140

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.03853563
2Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.86607121
3Ovarian steroidogenesis_Homo sapiens_hsa049132.82154839
4Basal transcription factors_Homo sapiens_hsa030222.81945886
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.54158930
6Linoleic acid metabolism_Homo sapiens_hsa005912.38808075
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.18738946
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.12404381
9Caffeine metabolism_Homo sapiens_hsa002322.07455562
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.05142757
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.94437392
12Homologous recombination_Homo sapiens_hsa034401.93487203
13Nicotine addiction_Homo sapiens_hsa050331.92548699
14Protein export_Homo sapiens_hsa030601.91517024
15RNA degradation_Homo sapiens_hsa030181.91262703
16Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.80368296
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.78616867
18Butanoate metabolism_Homo sapiens_hsa006501.76879170
19Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.72822377
20Oxidative phosphorylation_Homo sapiens_hsa001901.72152014
21Fanconi anemia pathway_Homo sapiens_hsa034601.72026682
22RNA polymerase_Homo sapiens_hsa030201.71513097
23Nitrogen metabolism_Homo sapiens_hsa009101.68655369
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.64647280
25Ether lipid metabolism_Homo sapiens_hsa005651.63795688
26Selenocompound metabolism_Homo sapiens_hsa004501.61653359
27Olfactory transduction_Homo sapiens_hsa047401.57053068
28Morphine addiction_Homo sapiens_hsa050321.45727896
29Dorso-ventral axis formation_Homo sapiens_hsa043201.45620748
30Taste transduction_Homo sapiens_hsa047421.36304535
31ABC transporters_Homo sapiens_hsa020101.31827244
32Intestinal immune network for IgA production_Homo sapiens_hsa046721.30215901
33Parkinsons disease_Homo sapiens_hsa050121.28840986
34Tryptophan metabolism_Homo sapiens_hsa003801.28309502
35Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.20670752
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19424519
37Propanoate metabolism_Homo sapiens_hsa006401.15698506
38Cysteine and methionine metabolism_Homo sapiens_hsa002701.14547605
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10990873
40GABAergic synapse_Homo sapiens_hsa047271.10077507
41Circadian rhythm_Homo sapiens_hsa047101.07069963
42Huntingtons disease_Homo sapiens_hsa050161.06627859
43Regulation of autophagy_Homo sapiens_hsa041401.01702570
44Insulin secretion_Homo sapiens_hsa049110.98377557
45Peroxisome_Homo sapiens_hsa041460.95824396
46Serotonergic synapse_Homo sapiens_hsa047260.91457349
47Cardiac muscle contraction_Homo sapiens_hsa042600.90952637
48Circadian entrainment_Homo sapiens_hsa047130.87435175
49Oocyte meiosis_Homo sapiens_hsa041140.85048506
50Retinol metabolism_Homo sapiens_hsa008300.82619606
51Arachidonic acid metabolism_Homo sapiens_hsa005900.80960512
52Purine metabolism_Homo sapiens_hsa002300.80252592
53Collecting duct acid secretion_Homo sapiens_hsa049660.80044392
54Asthma_Homo sapiens_hsa053100.78941152
55Nucleotide excision repair_Homo sapiens_hsa034200.78085680
56Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.76620139
57Chemical carcinogenesis_Homo sapiens_hsa052040.75732431
58Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74531450
59Glutamatergic synapse_Homo sapiens_hsa047240.74308680
60RNA transport_Homo sapiens_hsa030130.71468609
61One carbon pool by folate_Homo sapiens_hsa006700.67602082
62Vitamin digestion and absorption_Homo sapiens_hsa049770.65420893
63Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65410652
64Primary immunodeficiency_Homo sapiens_hsa053400.64843183
65Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.64791259
66p53 signaling pathway_Homo sapiens_hsa041150.64703520
67Proteasome_Homo sapiens_hsa030500.64094317
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.63443541
69Alzheimers disease_Homo sapiens_hsa050100.62890254
70Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.61141511
71Mismatch repair_Homo sapiens_hsa034300.60298346
72Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.59217180
73Type I diabetes mellitus_Homo sapiens_hsa049400.58318105
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.56653641
75Folate biosynthesis_Homo sapiens_hsa007900.56624781
76SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54825666
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.54786024
78Glycerolipid metabolism_Homo sapiens_hsa005610.52850822
79Metabolic pathways_Homo sapiens_hsa011000.52687611
80Autoimmune thyroid disease_Homo sapiens_hsa053200.51961583
81Fat digestion and absorption_Homo sapiens_hsa049750.51864730
82Steroid biosynthesis_Homo sapiens_hsa001000.51771401
83Pyrimidine metabolism_Homo sapiens_hsa002400.50745553
84Base excision repair_Homo sapiens_hsa034100.49751779
85Calcium signaling pathway_Homo sapiens_hsa040200.48818456
86beta-Alanine metabolism_Homo sapiens_hsa004100.48267256
87Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.48226675
88Cell cycle_Homo sapiens_hsa041100.48016504
89Allograft rejection_Homo sapiens_hsa053300.46805217
90Histidine metabolism_Homo sapiens_hsa003400.45749109
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.45480170
92Long-term depression_Homo sapiens_hsa047300.44838878
93Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42917178
94Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.42822331
95Sulfur metabolism_Homo sapiens_hsa009200.42577441
96Salivary secretion_Homo sapiens_hsa049700.41943207
97Lysine degradation_Homo sapiens_hsa003100.39573118
98Rheumatoid arthritis_Homo sapiens_hsa053230.38598528
99Graft-versus-host disease_Homo sapiens_hsa053320.38581181
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.38267874

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