POMZP3

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 appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular response to ATP (GO:0071318)5.79065322
2GDP-mannose metabolic process (GO:0019673)5.52223513
3mitotic cell cycle arrest (GO:0071850)5.46984229
4piRNA metabolic process (GO:0034587)5.42740708
5multicellular organism reproduction (GO:0032504)4.75079067
6regulation of cytokine production involved in inflammatory response (GO:1900015)4.64252074
7detection of light stimulus involved in sensory perception (GO:0050962)4.58303040
8detection of light stimulus involved in visual perception (GO:0050908)4.58303040
9negative regulation of telomere maintenance (GO:0032205)4.57511672
10DNA methylation involved in gamete generation (GO:0043046)4.54138913
11protein import into peroxisome matrix (GO:0016558)4.36607475
12RNA destabilization (GO:0050779)4.32693976
13regulation of skeletal muscle contraction (GO:0014819)4.21755648
14negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.17378096
15negative regulation of cell aging (GO:0090344)4.07661779
16positive regulation of defense response to virus by host (GO:0002230)4.04389559
17positive regulation of heat generation (GO:0031652)3.85767685
18DNA deamination (GO:0045006)3.76662975
19purinergic nucleotide receptor signaling pathway (GO:0035590)3.74738807
20rRNA catabolic process (GO:0016075)3.71424085
21meiotic chromosome segregation (GO:0045132)3.71366977
22behavioral response to nicotine (GO:0035095)3.56610296
23base-excision repair, AP site formation (GO:0006285)3.42929101
24granulocyte differentiation (GO:0030851)3.37844969
25reproduction (GO:0000003)3.32867088
26phosphatidylglycerol biosynthetic process (GO:0006655)3.29903666
27modulation by virus of host process (GO:0019054)3.27630041
28DNA strand renaturation (GO:0000733)3.27385645
29response to ATP (GO:0033198)3.26064517
30sleep (GO:0030431)3.25987205
31regulation of defense response to virus by host (GO:0050691)3.23373257
32L-fucose catabolic process (GO:0042355)3.22754351
33fucose catabolic process (GO:0019317)3.22754351
34L-fucose metabolic process (GO:0042354)3.22754351
35lens fiber cell differentiation (GO:0070306)3.17804316
36poly(A)+ mRNA export from nucleus (GO:0016973)3.11955452
37protein targeting to peroxisome (GO:0006625)3.09945176
38establishment of protein localization to peroxisome (GO:0072663)3.09945176
39protein localization to peroxisome (GO:0072662)3.09945176
40pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.05947054
41regulation of nuclear cell cycle DNA replication (GO:0033262)3.05810468
42iron-sulfur cluster assembly (GO:0016226)3.03141692
43metallo-sulfur cluster assembly (GO:0031163)3.03141692
44purine deoxyribonucleotide catabolic process (GO:0009155)3.01496605
45spermatid development (GO:0007286)3.01365242
46acrosome reaction (GO:0007340)3.01249379
47peroxisomal transport (GO:0043574)3.00651918
48regulation of synapse structural plasticity (GO:0051823)3.00640058
49transepithelial transport (GO:0070633)2.96596733
50regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)2.95501203
51maturation of 5.8S rRNA (GO:0000460)2.88900402
52negative regulation of tumor necrosis factor production (GO:0032720)2.85636759
53CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.84768642
54purinergic receptor signaling pathway (GO:0035587)2.80834782
55rRNA methylation (GO:0031167)2.77441911
56adenosine receptor signaling pathway (GO:0001973)2.77100028
57mannosylation (GO:0097502)2.76707025
58negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.76046829
59deoxyribonucleotide catabolic process (GO:0009264)2.75829744
60regulation of heat generation (GO:0031650)2.75715849
61G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.74214755
62NAD biosynthetic process (GO:0009435)2.70451160
63negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.68704492
64fucosylation (GO:0036065)2.67528115
65regulation of female gonad development (GO:2000194)2.67434047
66regulation of memory T cell differentiation (GO:0043380)2.66781415
67sperm motility (GO:0030317)2.66111137
68pyrimidine nucleotide catabolic process (GO:0006244)2.65911069
69positive regulation of prostaglandin secretion (GO:0032308)2.64580560
70estrogen biosynthetic process (GO:0006703)2.64309940
71cilium or flagellum-dependent cell motility (GO:0001539)2.61492540
72purine nucleotide salvage (GO:0032261)2.56224762
73nucleotide transmembrane transport (GO:1901679)2.56008192
74sphingosine metabolic process (GO:0006670)2.55393428
75reciprocal DNA recombination (GO:0035825)2.54508610
76reciprocal meiotic recombination (GO:0007131)2.54508610
77regulation of telomere maintenance (GO:0032204)2.54488500
78kynurenine metabolic process (GO:0070189)2.54188367
79modulation by symbiont of host cellular process (GO:0044068)2.52498635
80positive regulation of T cell mediated cytotoxicity (GO:0001916)2.50776992
81regulation of phospholipid biosynthetic process (GO:0071071)2.50722090
82positive regulation of protein homooligomerization (GO:0032464)2.49323474
83nucleotide salvage (GO:0043173)2.48385390
84grooming behavior (GO:0007625)2.45332110
85dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.43722212
86respiratory chain complex IV assembly (GO:0008535)2.43492102
87regulation of telomere maintenance via telomerase (GO:0032210)2.42556466
88tRNA modification (GO:0006400)2.38458333
89protein insertion into membrane (GO:0051205)2.35849286
90purine deoxyribonucleotide metabolic process (GO:0009151)2.35450809
91mannose metabolic process (GO:0006013)2.33990013
92regulation of acrosome reaction (GO:0060046)2.33094856
93urinary tract smooth muscle contraction (GO:0014848)2.32756426
94rRNA modification (GO:0000154)2.32209941
95protein K6-linked ubiquitination (GO:0085020)2.32081289
96regulation of T cell mediated cytotoxicity (GO:0001914)2.31959173
97negative regulation of DNA-templated transcription, elongation (GO:0032785)2.31918763
98response to gravity (GO:0009629)2.31886725
99regulation of MHC class I biosynthetic process (GO:0045343)2.30807468
100regulation of protein kinase A signaling (GO:0010738)2.30806699

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human3.25012069
2VDR_21846776_ChIP-Seq_THP-1_Human3.19469266
3P68_20966046_ChIP-Seq_HELA_Human2.64684241
4BCL6_27268052_Chip-Seq_Bcells_Human2.60307871
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.55262348
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.54437708
7TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.52285814
8NOTCH1_21737748_ChIP-Seq_TLL_Human2.50355185
9ELF1_20517297_ChIP-Seq_JURKAT_Human2.46593948
10STAT6_21828071_ChIP-Seq_BEAS2B_Human2.43888794
11BCOR_27268052_Chip-Seq_Bcells_Human2.43342955
12E2F1_20622854_ChIP-Seq_HELA_Human2.42929504
13EBNA2_21746931_ChIP-Seq_IB4-LCL_Human2.30516768
14PHF8_20622854_ChIP-Seq_HELA_Human2.29740372
15YY1_22570637_ChIP-Seq_MALME-3M_Human2.11887035
16RBPJ_21746931_ChIP-Seq_IB4-LCL_Human2.11726281
17MAF_26560356_Chip-Seq_TH2_Human2.10641357
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.10409776
19XRN2_22483619_ChIP-Seq_HELA_Human2.05647429
20SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.97979689
21ETS1_20019798_ChIP-Seq_JURKAT_Human1.97671475
22CTCF_20526341_ChIP-Seq_ESCs_Human1.91939229
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.85247656
24TET1_21451524_ChIP-Seq_MESCs_Mouse1.80258777
25IRF8_22096565_ChIP-ChIP_GC-B_Human1.77814781
26GABP_17652178_ChIP-ChIP_JURKAT_Human1.76259711
27CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.73477942
28LXR_22292898_ChIP-Seq_THP-1_Human1.73470583
29NANOG_20526341_ChIP-Seq_ESCs_Human1.72965122
30VDR_23849224_ChIP-Seq_CD4+_Human1.71638548
31ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.69372769
32TP63_19390658_ChIP-ChIP_HaCaT_Human1.67927697
33CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.67724260
34GABP_19822575_ChIP-Seq_HepG2_Human1.65977100
35P300_27268052_Chip-Seq_Bcells_Human1.65734605
36CTCF_21964334_Chip-Seq_Bcells_Human1.64781984
37ERA_21632823_ChIP-Seq_H3396_Human1.62222948
38MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.62069271
39CTCF_27219007_Chip-Seq_ERYTHROID_Human1.61384726
40CIITA_25753668_ChIP-Seq_RAJI_Human1.59891819
41KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.59524390
42DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.58910773
43MAF_26560356_Chip-Seq_TH1_Human1.58454374
44EZH2_22144423_ChIP-Seq_EOC_Human1.58217915
45* FOXP1_21924763_ChIP-Seq_HESCs_Human1.57925201
46RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.53557596
47YY1_21170310_ChIP-Seq_MESCs_Mouse1.53458758
48VDR_24763502_ChIP-Seq_THP-1_Human1.52192906
49SA1_27219007_Chip-Seq_ERYTHROID_Human1.52138608
50UTX_26944678_Chip-Seq_JUKART_Human1.51266486
51ZNF274_21170338_ChIP-Seq_K562_Hela1.50868246
52E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.50567303
53SA1_27219007_Chip-Seq_Bcells_Human1.49537643
54TAF2_19829295_ChIP-Seq_ESCs_Human1.48924262
55CTCF_27219007_Chip-Seq_Bcells_Human1.48674354
56MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.47499194
57RARB_24833708_ChIP-Seq_LIVER_Mouse1.46885869
58CTCF_26484167_Chip-Seq_Bcells_Mouse1.44300998
59DCP1A_22483619_ChIP-Seq_HELA_Human1.43138669
60RAC3_21632823_ChIP-Seq_H3396_Human1.41481615
61TP53_22127205_ChIP-Seq_IMR90_Human1.40225205
62CTCF_21964334_ChIP-Seq_BJAB-B_Human1.37255791
63SMC4_20622854_ChIP-Seq_HELA_Human1.36168616
64OCT4_20526341_ChIP-Seq_ESCs_Human1.35945236
65SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.33795443
66CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.30699927
67BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.30661377
68MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.30564583
69SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30509680
70FOXP3_21729870_ChIP-Seq_TREG_Human1.29923278
71RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.29410246
72TP53_22573176_ChIP-Seq_HFKS_Human1.28095149
73EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.27887831
74MYC_19829295_ChIP-Seq_ESCs_Human1.27757637
75DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.25376242
76CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.23995942
77OCT4_19829295_ChIP-Seq_ESCs_Human1.23298258
78P53_21459846_ChIP-Seq_SAOS-2_Human1.22786700
79SRF_21415370_ChIP-Seq_HL-1_Mouse1.22625392
80SRY_22984422_ChIP-ChIP_TESTIS_Rat1.21650970
81SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21464841
82RARA_24833708_ChIP-Seq_LIVER_Mouse1.20533502
83FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.19485961
84IRF8_21731497_ChIP-ChIP_J774_Mouse1.17408454
85PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.16126392
86IKZF1_21737484_ChIP-ChIP_HCT116_Human1.15677769
87RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15099710
88SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14511000
89FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12951095
90KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.12383949
91THAP11_20581084_ChIP-Seq_MESCs_Mouse1.11806407
92GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10816473
93KDM5A_27292631_Chip-Seq_BREAST_Human1.08750445
94ETS1_21867929_ChIP-Seq_TH2_Mouse1.08516091
95LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.08080180
96EST1_17652178_ChIP-ChIP_JURKAT_Human1.07874884
97MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.05949818
98CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.03936005
99DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03305033
100PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02363421

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity4.62180160
2MP0005171_absent_coat_pigmentation4.45934273
3MP0005410_abnormal_fertilization3.03702697
4MP0005423_abnormal_somatic_nervous2.82982183
5MP0005174_abnormal_tail_pigmentation2.82322195
6MP0002254_reproductive_system_inflammat2.79851905
7MP0003136_yellow_coat_color2.77848149
8MP0002822_catalepsy2.46594313
9MP0003718_maternal_effect2.15927830
10MP0006082_CNS_inflammation2.12957612
11MP0003646_muscle_fatigue2.10598602
12MP0000750_abnormal_muscle_regeneration2.03506134
13MP0002638_abnormal_pupillary_reflex1.94364054
14MP0009278_abnormal_bone_marrow1.88965097
15MP0005551_abnormal_eye_electrophysiolog1.82883328
16MP0003806_abnormal_nucleotide_metabolis1.81367789
17MP0002148_abnormal_hypersensitivity_rea1.70645364
18MP0001502_abnormal_circadian_rhythm1.67514232
19MP0001873_stomach_inflammation1.66115794
20MP0002653_abnormal_ependyma_morphology1.65301558
21MP0003950_abnormal_plasma_membrane1.60692695
22MP0001968_abnormal_touch/_nociception1.56228461
23MP0005083_abnormal_biliary_tract1.51372512
24MP0009840_abnormal_foam_cell1.45116344
25MP0004145_abnormal_muscle_electrophysio1.42984690
26MP0008875_abnormal_xenobiotic_pharmacok1.40950898
27MP0005253_abnormal_eye_physiology1.40809852
28MP0009785_altered_susceptibility_to1.40193397
29MP0000751_myopathy1.38416987
30MP0009764_decreased_sensitivity_to1.35466140
31MP0003011_delayed_dark_adaptation1.35094994
32MP0003436_decreased_susceptibility_to1.31828552
33MP0001929_abnormal_gametogenesis1.31330521
34MP0003656_abnormal_erythrocyte_physiolo1.29102521
35MP0000566_synostosis1.29004772
36MP0000015_abnormal_ear_pigmentation1.27702871
37MP0002837_dystrophic_cardiac_calcinosis1.25761111
38MP0001346_abnormal_lacrimal_gland1.25683394
39MP0003698_abnormal_male_reproductive1.22795017
40MP0000685_abnormal_immune_system1.19401103
41MP0004130_abnormal_muscle_cell1.19326518
42MP0002723_abnormal_immune_serum1.16766311
43MP0001348_abnormal_lacrimal_gland1.15645446
44MP0001919_abnormal_reproductive_system1.14445750
45MP0002160_abnormal_reproductive_system1.14390972
46MP0005000_abnormal_immune_tolerance1.11771837
47MP0005671_abnormal_response_to1.11326355
48MP0005397_hematopoietic_system_phenotyp1.09216224
49MP0001545_abnormal_hematopoietic_system1.09216224
50MP0002735_abnormal_chemical_nociception1.09146428
51MP0002210_abnormal_sex_determination1.08416470
52MP0002332_abnormal_exercise_endurance1.06907726
53MP0001905_abnormal_dopamine_level1.06780780
54MP0002452_abnormal_antigen_presenting1.06115656
55MP0005670_abnormal_white_adipose1.02598019
56MP0002736_abnormal_nociception_after1.01189525
57MP0005058_abnormal_lysosome_morphology1.00950006
58MP0005025_abnormal_response_to0.99698132
59MP0001800_abnormal_humoral_immune0.99122940
60MP0003453_abnormal_keratinocyte_physiol0.96234730
61MP0005535_abnormal_body_temperature0.95995702
62MP0000470_abnormal_stomach_morphology0.95691826
63MP0005266_abnormal_metabolism0.95168476
64MP0002876_abnormal_thyroid_physiology0.94370941
65MP0002420_abnormal_adaptive_immunity0.93221335
66MP0003303_peritoneal_inflammation0.93189143
67MP0009046_muscle_twitch0.93084573
68MP0002277_abnormal_respiratory_mucosa0.92513332
69MP0001819_abnormal_immune_cell0.91147419
70MP0002405_respiratory_system_inflammati0.90650347
71MP0006035_abnormal_mitochondrial_morpho0.90077940
72MP0004142_abnormal_muscle_tone0.89934645
73MP0003693_abnormal_embryo_hatching0.89436379
74MP0005645_abnormal_hypothalamus_physiol0.88947501
75MP0006036_abnormal_mitochondrial_physio0.88345711
76MP0005389_reproductive_system_phenotype0.86993444
77MP0005310_abnormal_salivary_gland0.85984013
78MP0001970_abnormal_pain_threshold0.85336327
79MP0005330_cardiomyopathy0.84999570
80MP0008961_abnormal_basal_metabolism0.82380713
81MP0002419_abnormal_innate_immunity0.82011700
82MP0000749_muscle_degeneration0.81566747
83MP0003111_abnormal_nucleus_morphology0.80764053
84MP0004381_abnormal_hair_follicle0.79373284
85MP0003724_increased_susceptibility_to0.79205280
86MP0000372_irregular_coat_pigmentation0.77728977
87MP0000538_abnormal_urinary_bladder0.77728056
88MP0000358_abnormal_cell_content/0.76310943
89MP0008877_abnormal_DNA_methylation0.75857842
90MP0001501_abnormal_sleep_pattern0.75732191
91MP0002928_abnormal_bile_duct0.74878389
92MP0008058_abnormal_DNA_repair0.74869678
93MP0001790_abnormal_immune_system0.74171456
94MP0005387_immune_system_phenotype0.74171456
95MP0000716_abnormal_immune_system0.73883142
96MP0000747_muscle_weakness0.73451319
97MP0003763_abnormal_thymus_physiology0.72299385
98MP0004043_abnormal_pH_regulation0.72296842
99MP0008469_abnormal_protein_level0.72150632
100MP0001764_abnormal_homeostasis0.69684964

Predicted human phenotypes

RankGene SetZ-score
1Attenuation of retinal blood vessels (HP:0007843)6.08217983
2Mesangial abnormality (HP:0001966)4.95699906
3Testicular atrophy (HP:0000029)4.35134577
4Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.13093715
5Dyschromatopsia (HP:0007641)4.00905457
6Congenital stationary night blindness (HP:0007642)3.96254337
7Renal Fanconi syndrome (HP:0001994)3.84463336
8Hypoplasia of the pons (HP:0012110)3.81568682
9Decreased electroretinogram (ERG) amplitude (HP:0000654)3.76307562
10Abnormality of the pons (HP:0007361)3.73528664
11Lipid accumulation in hepatocytes (HP:0006561)3.64013182
12Bony spicule pigmentary retinopathy (HP:0007737)3.63956169
13Decreased central vision (HP:0007663)3.63290293
14Increased hepatocellular lipid droplets (HP:0006565)3.63236046
15Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.61697224
16Rib fusion (HP:0000902)3.56428504
17Poikiloderma (HP:0001029)3.52043068
18Increased intramyocellular lipid droplets (HP:0012240)3.35924795
19Increased muscle lipid content (HP:0009058)3.33420989
20Akinesia (HP:0002304)3.14242019
21Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.08875851
22Brushfield spots (HP:0001088)3.06210866
23Abnormal albumin level (HP:0012116)2.81027288
24Hypoalbuminemia (HP:0003073)2.81027288
25Stomatitis (HP:0010280)2.72326368
26Abnormal number of erythroid precursors (HP:0012131)2.72192631
27Rectovaginal fistula (HP:0000143)2.66729499
28Rectal fistula (HP:0100590)2.66729499
29Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.65547212
30Annular pancreas (HP:0001734)2.63749919
31Choroideremia (HP:0001139)2.63010699
32Exertional dyspnea (HP:0002875)2.61286819
33Facial diplegia (HP:0001349)2.58929960
34Patellar aplasia (HP:0006443)2.55732394
35Ulnar bowing (HP:0003031)2.54631887
36Poor head control (HP:0002421)2.54083635
37Macular degeneration (HP:0000608)2.51319932
38Fetal akinesia sequence (HP:0001989)2.47712101
39Flat occiput (HP:0005469)2.44208020
40Epiphyseal stippling (HP:0010655)2.43370242
41Cerebellar dysplasia (HP:0007033)2.40412874
42Hemorrhage of the eye (HP:0011885)2.40129959
43Aplasia/Hypoplasia of the patella (HP:0006498)2.38288486
44Type II lissencephaly (HP:0007260)2.37183837
45Squamous cell carcinoma (HP:0002860)2.36565504
46Myopathic facies (HP:0002058)2.34979879
47Intestinal fistula (HP:0100819)2.28164318
48Abnormality of renal resorption (HP:0011038)2.27605604
49Abnormal rod and cone electroretinograms (HP:0008323)2.24284993
50Molar tooth sign on MRI (HP:0002419)2.23547386
51Abnormality of midbrain morphology (HP:0002418)2.23547386
52Vaginal fistula (HP:0004320)2.23455004
53Neonatal respiratory distress (HP:0002643)2.23287954
54Abnormal epiphyseal ossification (HP:0010656)2.22443816
55Conical tooth (HP:0000698)2.20183255
56Aplasia of the musculature (HP:0100854)2.20119582
57Progressive microcephaly (HP:0000253)2.18502399
58Amniotic constriction ring (HP:0009775)2.17092130
59Abnormality of placental membranes (HP:0011409)2.17092130
60Abnormality of the costochondral junction (HP:0000919)2.16402750
61Abnormality of cells of the erythroid lineage (HP:0012130)2.15933907
62Short chin (HP:0000331)2.15304551
63Chronic hepatic failure (HP:0100626)2.12138683
64Flat capital femoral epiphysis (HP:0003370)2.10674050
65Stomach cancer (HP:0012126)2.06331698
66Myotonia (HP:0002486)2.05870701
67Delayed epiphyseal ossification (HP:0002663)2.05797444
68Optic disc pallor (HP:0000543)2.03303990
69Popliteal pterygium (HP:0009756)2.02573400
70Mitochondrial inheritance (HP:0001427)2.02447337
71Turricephaly (HP:0000262)2.02433315
72Basal cell carcinoma (HP:0002671)1.99582809
73Abnormality of liposaccharide metabolism (HP:0010968)1.98247293
74Abnormality of glycosphingolipid metabolism (HP:0004343)1.98247293
75Abnormality of glycolipid metabolism (HP:0010969)1.98247293
76Type I transferrin isoform profile (HP:0003642)1.96346136
77Hypophosphatemic rickets (HP:0004912)1.92303299
78Facial hemangioma (HP:0000329)1.90624638
79Absent thumb (HP:0009777)1.89591221
80Pendular nystagmus (HP:0012043)1.88863080
81Abnormality of dental color (HP:0011073)1.87626157
82Thin bony cortex (HP:0002753)1.87539767
83Enlarged epiphyses (HP:0010580)1.85178047
84Coronal craniosynostosis (HP:0004440)1.84900031
85Prolonged partial thromboplastin time (HP:0003645)1.84883942
86Abnormal protein glycosylation (HP:0012346)1.83982958
87Abnormal glycosylation (HP:0012345)1.83982958
88Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.83982958
89Abnormal protein N-linked glycosylation (HP:0012347)1.83982958
90Posterior embryotoxon (HP:0000627)1.83576329
91Reduced antithrombin III activity (HP:0001976)1.79808771
92Nephronophthisis (HP:0000090)1.79758185
93Photophobia (HP:0000613)1.78083123
94Pancreatic fibrosis (HP:0100732)1.77898339
95Joint stiffness (HP:0001387)1.77684320
96Pancreatic cysts (HP:0001737)1.75605568
97Polydipsia (HP:0001959)1.73740818
98Abnormal drinking behavior (HP:0030082)1.73740818
99Abnormality of mucopolysaccharide metabolism (HP:0011020)1.73416319
100Abnormality of glycosaminoglycan metabolism (HP:0004371)1.73416319

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK155.08219032
2TAOK33.91741649
3MUSK3.26379555
4PINK12.79325019
5TLK12.64530475
6BLK2.61827516
7IRAK32.33414262
8BCKDK2.30600959
9ZAK2.25154347
10TESK22.17368354
11IKBKB2.15491189
12WNK42.07640485
13ADRBK22.07233165
14PIM21.98867581
15SIK21.91098835
16MAPKAPK31.83669393
17TBK11.82802467
18MAP3K141.75262195
19MAP3K111.64614641
20MAP2K31.60470875
21IKBKE1.44476013
22MAP4K21.40885391
23TXK1.39851039
24STK161.37582321
25EPHA31.34731431
26GRK71.25671676
27AURKA1.23449557
28DYRK1B1.20162016
29MAP3K41.19006961
30WNK11.18471099
31INSRR1.16723856
32MAP2K61.14697651
33TNK21.12901890
34CHUK1.07444204
35TAOK21.06629610
36ZAP701.01112036
37MAP2K71.00965681
38PHKG11.00664394
39PHKG21.00664394
40MAP3K50.96384135
41NUAK10.95782769
42ADRBK10.95401373
43MAP4K10.94133387
44GRK60.92941574
45MAPK110.92064084
46NME20.89284292
47PASK0.88950307
48IRAK40.86779933
49GRK10.85322542
50PKN10.84430312
51MAP3K130.79741022
52MAP2K20.76661361
53BMPR1B0.76489742
54PIM10.73611314
55ABL20.72071753
56MATK0.69394454
57MAPKAPK50.69287292
58SYK0.69039013
59CHEK20.68680741
60TRPM70.68008617
61CDK40.68007008
62RPS6KA50.67961260
63CCNB10.67661572
64RPS6KA60.64123916
65STK38L0.62502772
66DAPK20.62165913
67STK380.59921548
68MAPK120.57916781
69MAP2K40.57039395
70IRAK20.56122322
71MOS0.54117534
72STK100.53720293
73CSNK1G30.52997167
74PDPK10.52703167
75NEK20.52634936
76CSNK1G10.50461947
77CSNK1A1L0.49627333
78ERN10.48690884
79PRKAA10.47922998
80KIT0.46113945
81JAK30.46046207
82MAPK130.45572271
83PAK10.44734213
84TESK10.44538984
85RPS6KL10.41982438
86RPS6KC10.41982438
87CDK11A0.41939848
88MARK30.41375677
89CSK0.40218474
90HIPK20.36584784
91MAPK30.35844981
92CAMKK20.35794492
93PRKCQ0.34985583
94LYN0.34757525
95ACVR1B0.34650236
96MAP3K70.34290798
97CSNK1G20.33616692
98CSNK1D0.33495140
99EIF2AK10.33171199
100LCK0.32665459

Predicted pathways (KEGG)

RankGene SetZ-score
1Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.06496420
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.62236649
3Sulfur relay system_Homo sapiens_hsa041223.12921251
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.71618034
5Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.61480339
6Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.40354300
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.24144040
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.14276369
9RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.09042628
10Fanconi anemia pathway_Homo sapiens_hsa034602.05733117
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.00897119
12RNA polymerase_Homo sapiens_hsa030201.99516862
13Phototransduction_Homo sapiens_hsa047441.98237344
14Primary immunodeficiency_Homo sapiens_hsa053401.87152233
15Sphingolipid metabolism_Homo sapiens_hsa006001.72099112
16Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.69578050
17NOD-like receptor signaling pathway_Homo sapiens_hsa046211.69367001
18Basal transcription factors_Homo sapiens_hsa030221.66834071
19Circadian rhythm_Homo sapiens_hsa047101.63154633
20Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.58182322
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.56416910
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.50921433
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.49939234
24Oxidative phosphorylation_Homo sapiens_hsa001901.47584793
25Base excision repair_Homo sapiens_hsa034101.44985190
26Taste transduction_Homo sapiens_hsa047421.29342327
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.25283115
28NF-kappa B signaling pathway_Homo sapiens_hsa040641.24567933
29TNF signaling pathway_Homo sapiens_hsa046681.21662612
30Nicotine addiction_Homo sapiens_hsa050331.13340636
31Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.12395059
32Rheumatoid arthritis_Homo sapiens_hsa053231.12251967
33Regulation of autophagy_Homo sapiens_hsa041401.09614032
34Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.04853658
35Toll-like receptor signaling pathway_Homo sapiens_hsa046201.02895568
36Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.02708629
37Osteoclast differentiation_Homo sapiens_hsa043801.02146358
38Pyrimidine metabolism_Homo sapiens_hsa002401.02063732
39Lysosome_Homo sapiens_hsa041421.02016066
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.99944903
41Fructose and mannose metabolism_Homo sapiens_hsa000510.99644184
42Dorso-ventral axis formation_Homo sapiens_hsa043200.96469780
43Allograft rejection_Homo sapiens_hsa053300.93988036
44Parkinsons disease_Homo sapiens_hsa050120.93267863
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.91256833
46Collecting duct acid secretion_Homo sapiens_hsa049660.90199398
47Linoleic acid metabolism_Homo sapiens_hsa005910.89900996
48Huntingtons disease_Homo sapiens_hsa050160.87931882
49Nitrogen metabolism_Homo sapiens_hsa009100.87769434
50Homologous recombination_Homo sapiens_hsa034400.85700438
51Ovarian steroidogenesis_Homo sapiens_hsa049130.83856255
52Graft-versus-host disease_Homo sapiens_hsa053320.80368731
53Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.77374518
54Herpes simplex infection_Homo sapiens_hsa051680.76106525
55Jak-STAT signaling pathway_Homo sapiens_hsa046300.74832136
56Autoimmune thyroid disease_Homo sapiens_hsa053200.69891030
57Other glycan degradation_Homo sapiens_hsa005110.69750985
58Olfactory transduction_Homo sapiens_hsa047400.69525589
59Epstein-Barr virus infection_Homo sapiens_hsa051690.68200130
60Maturity onset diabetes of the young_Homo sapiens_hsa049500.68001543
61RNA transport_Homo sapiens_hsa030130.65986718
62Malaria_Homo sapiens_hsa051440.65871703
63Purine metabolism_Homo sapiens_hsa002300.65128360
64Ribosome_Homo sapiens_hsa030100.64238555
65Influenza A_Homo sapiens_hsa051640.62580917
66Hedgehog signaling pathway_Homo sapiens_hsa043400.62450426
67SNARE interactions in vesicular transport_Homo sapiens_hsa041300.62321594
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59969334
69Nucleotide excision repair_Homo sapiens_hsa034200.59109610
70Morphine addiction_Homo sapiens_hsa050320.58017427
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55374606
72Calcium signaling pathway_Homo sapiens_hsa040200.55101928
73Apoptosis_Homo sapiens_hsa042100.54024367
74Selenocompound metabolism_Homo sapiens_hsa004500.54010867
75Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.51003593
76Type I diabetes mellitus_Homo sapiens_hsa049400.50374075
77mRNA surveillance pathway_Homo sapiens_hsa030150.49490502
78Legionellosis_Homo sapiens_hsa051340.49120830
79Ether lipid metabolism_Homo sapiens_hsa005650.48896564
80Hematopoietic cell lineage_Homo sapiens_hsa046400.47977190
81T cell receptor signaling pathway_Homo sapiens_hsa046600.46871502
82Alzheimers disease_Homo sapiens_hsa050100.45467928
83N-Glycan biosynthesis_Homo sapiens_hsa005100.45402193
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.44127706
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43297127
86Tuberculosis_Homo sapiens_hsa051520.43254748
87Measles_Homo sapiens_hsa051620.42560953
88Cardiac muscle contraction_Homo sapiens_hsa042600.42510568
89Non-homologous end-joining_Homo sapiens_hsa034500.41536572
90RNA degradation_Homo sapiens_hsa030180.39312391
91Synaptic vesicle cycle_Homo sapiens_hsa047210.39095611
92Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.38375067
93Inositol phosphate metabolism_Homo sapiens_hsa005620.37762296
94Metabolic pathways_Homo sapiens_hsa011000.37423590
95African trypanosomiasis_Homo sapiens_hsa051430.35018315
96Adipocytokine signaling pathway_Homo sapiens_hsa049200.34079831
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.33952014
98B cell receptor signaling pathway_Homo sapiens_hsa046620.33698970
99Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.33380686
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.32970236

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