NSUN5P1

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 locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mannose metabolic process (GO:0006013)7.21763879
2negative regulation of erythrocyte differentiation (GO:0045647)5.27908477
3regulation of histone H3-K27 methylation (GO:0061085)5.21115779
4positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.97857623
5positive regulation of gamma-delta T cell activation (GO:0046645)4.86093032
6positive thymic T cell selection (GO:0045059)4.76084344
7thymic T cell selection (GO:0045061)4.68887302
8regulation of gamma-delta T cell differentiation (GO:0045586)4.63268709
9negative thymic T cell selection (GO:0045060)4.55073643
10histone H4 deacetylation (GO:0070933)4.51695029
11negative T cell selection (GO:0043383)4.44701227
12regulation of ARF GTPase activity (GO:0032312)4.32065428
13positive T cell selection (GO:0043368)4.25283390
14histone H3-K4 trimethylation (GO:0080182)4.19285082
15regulation of gamma-delta T cell activation (GO:0046643)4.17195514
16histone H3 deacetylation (GO:0070932)4.12690942
17positive regulation of CREB transcription factor activity (GO:0032793)4.07047833
18T cell selection (GO:0045058)4.06888897
19snRNA metabolic process (GO:0016073)4.00941024
20snRNA processing (GO:0016180)3.99024087
21positive regulation of granulocyte differentiation (GO:0030854)3.89482113
22B cell receptor signaling pathway (GO:0050853)3.83817619
23histone H3-K9 modification (GO:0061647)3.83800624
24phosphatidylglycerol biosynthetic process (GO:0006655)3.81848203
25entrainment of circadian clock by photoperiod (GO:0043153)3.77032706
26histone H3-K36 demethylation (GO:0070544)3.75509808
27histone deubiquitination (GO:0016578)3.71048119
28mucosal-associated lymphoid tissue development (GO:0048537)3.65697940
29Peyers patch development (GO:0048541)3.65697940
30DNA damage induced protein phosphorylation (GO:0006975)3.62849042
31histone H3-K4 methylation (GO:0051568)3.59969435
32antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.46641834
33semaphorin-plexin signaling pathway (GO:0071526)3.43260103
34histone H3-K9 methylation (GO:0051567)3.38750005
35positive regulation of histone deacetylation (GO:0031065)3.36034172
36antigen processing and presentation of endogenous antigen (GO:0019883)3.32837899
37cardiolipin metabolic process (GO:0032048)3.27316405
38antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.26728021
39histone lysine methylation (GO:0034968)3.24764521
40regulation of skeletal muscle contraction (GO:0014819)3.20844619
41regulation of histone H3-K4 methylation (GO:0051569)3.18014004
42negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.17274315
43regulation of granulocyte differentiation (GO:0030852)3.14041846
44regulation of B cell receptor signaling pathway (GO:0050855)3.13716974
45histone H3-K9 demethylation (GO:0033169)3.13320027
46poly(A)+ mRNA export from nucleus (GO:0016973)3.11886553
47negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.11278450
48negative regulation of cell killing (GO:0031342)3.11278450
49response to muramyl dipeptide (GO:0032495)3.08737981
50regulation of type I interferon-mediated signaling pathway (GO:0060338)3.07541674
51photoperiodism (GO:0009648)3.05185013
52peptidyl-lysine methylation (GO:0018022)3.04213779
53regulation of interleukin-12 biosynthetic process (GO:0045075)3.04138689
54histone H4-K16 acetylation (GO:0043984)3.03971307
55positive regulation of protein kinase C signaling (GO:0090037)3.03842619
56positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.02289648
57histone lysine demethylation (GO:0070076)3.00864861
58stress granule assembly (GO:0034063)2.98949143
59negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.97757966
60histone deacetylation (GO:0016575)2.90727195
61regulation of B cell differentiation (GO:0045577)2.89840311
62histone demethylation (GO:0016577)2.88351029
63meiotic chromosome segregation (GO:0045132)2.88193520
64positive regulation of B cell differentiation (GO:0045579)2.87084919
65entrainment of circadian clock (GO:0009649)2.86489283
66regulation of chromatin binding (GO:0035561)2.86423639
67peptidyl-lysine trimethylation (GO:0018023)2.85145391
68mRNA cleavage (GO:0006379)2.84000957
69natural killer cell differentiation (GO:0001779)2.83868000
70histone methylation (GO:0016571)2.82980436
71positive regulation of protein deacetylation (GO:0090312)2.82978534
72modulation by virus of host process (GO:0019054)2.78863177
73positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.73250309
74protein deacetylation (GO:0006476)2.72883024
75positive regulation of gene expression, epigenetic (GO:0045815)2.72728646
76CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.70415303
77negative regulation of myotube differentiation (GO:0010832)2.70196352
78positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.69099682
79negative regulation of histone methylation (GO:0031061)2.68315273
80purinergic nucleotide receptor signaling pathway (GO:0035590)2.66131182
81negative regulation of cell size (GO:0045792)2.65860332
82sulfate transmembrane transport (GO:1902358)2.65666600
83activated T cell proliferation (GO:0050798)2.65176054
84regulation of histone methylation (GO:0031060)2.63979544
85germinal center formation (GO:0002467)2.63672246
86response to interleukin-15 (GO:0070672)2.62734123
87histone H4-K5 acetylation (GO:0043981)2.62090199
88histone H4-K8 acetylation (GO:0043982)2.62090199
89bone trabecula formation (GO:0060346)2.60615836
90antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.60380602
91regulation of fatty acid beta-oxidation (GO:0031998)2.56827330
92negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.56401537
93negative regulation of macroautophagy (GO:0016242)2.55247182
94cellular response to virus (GO:0098586)2.55152477
95positive regulation of gluconeogenesis (GO:0045722)2.53633268
96positive regulation of Rap GTPase activity (GO:0032854)2.53377882
97positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.53346308
98mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.53346308
99protein demethylation (GO:0006482)2.50920792
100protein dealkylation (GO:0008214)2.50920792

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYC_22102868_ChIP-Seq_BL_Human3.83200065
2VDR_21846776_ChIP-Seq_THP-1_Human3.75927387
3EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.87489633
4TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.86741541
5LXR_22292898_ChIP-Seq_THP-1_Human2.80009010
6KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.73244614
7KDM2B_26808549_Chip-Seq_SUP-B15_Human2.64403012
8CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.58398141
9MAF_26560356_Chip-Seq_TH2_Human2.56040246
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.49763044
11TCF7_22412390_ChIP-Seq_EML_Mouse2.49608600
12KDM2B_26808549_Chip-Seq_DND41_Human2.46507847
13* MAF_26560356_Chip-Seq_TH1_Human2.40335370
14P68_20966046_ChIP-Seq_HELA_Human2.36182149
15CIITA_25753668_ChIP-Seq_RAJI_Human2.35233962
16UTX_26944678_Chip-Seq_JUKART_Human2.23731022
17E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.16429387
18KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.09192651
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.06261525
20SMC4_20622854_ChIP-Seq_HELA_Human1.95456014
21CTCF_27219007_Chip-Seq_ERYTHROID_Human1.93389286
22IRF8_22096565_ChIP-ChIP_GC-B_Human1.90180879
23RACK7_27058665_Chip-Seq_MCF-7_Human1.83618888
24VDR_24763502_ChIP-Seq_THP-1_Human1.82405154
25BCOR_27268052_Chip-Seq_Bcells_Human1.81144941
26NCOR1_26117541_ChIP-Seq_K562_Human1.79972097
27ELF1_20517297_ChIP-Seq_JURKAT_Human1.79589630
28BCL6_27268052_Chip-Seq_Bcells_Human1.79395566
29E2F1_20622854_ChIP-Seq_HELA_Human1.78111800
30PHF8_20622854_ChIP-Seq_HELA_Human1.74340137
31KDM2B_26808549_Chip-Seq_JURKAT_Human1.70316702
32SA1_27219007_Chip-Seq_ERYTHROID_Human1.70087383
33EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.69614540
34ERG_21242973_ChIP-ChIP_JURKAT_Human1.67439160
35CREB1_26743006_Chip-Seq_LNCaP_Human1.62805048
36TET1_21451524_ChIP-Seq_MESCs_Mouse1.62394312
37SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.62230720
38STAT6_21828071_ChIP-Seq_BEAS2B_Human1.61509657
39MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.58359112
40STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.55928661
41MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.55351067
42RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.53948215
43RUNX1_22412390_ChIP-Seq_EML_Mouse1.53626165
44CTCF_21964334_ChIP-Seq_BJAB-B_Human1.52168957
45RARB_24833708_ChIP-Seq_LIVER_Mouse1.50226691
46SCL_19346495_ChIP-Seq_HPC-7_Human1.49990327
47RARG_19884340_ChIP-ChIP_MEFs_Mouse1.49354331
48MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.48951123
49IKZF1_21737484_ChIP-ChIP_HCT116_Human1.48304066
50MYB_26560356_Chip-Seq_TH1_Human1.47067523
51KDM2B_26808549_Chip-Seq_K562_Human1.46859219
52DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.46546008
53CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.46321089
54CTCF_27219007_Chip-Seq_Bcells_Human1.44134417
55MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.43346584
56TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39059907
57CTCF_21964334_Chip-Seq_Bcells_Human1.38312673
58RARA_24833708_ChIP-Seq_LIVER_Mouse1.36333784
59SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.35488208
60GATA1_19941827_ChIP-Seq_MEL_Mouse1.35107393
61* RUNX1_27514584_Chip-Seq_MCF-7_Human1.33291886
62SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.31971625
63DROSHA_22980978_ChIP-Seq_HELA_Human1.29911278
64TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.25194319
65TP53_22127205_ChIP-Seq_IMR90_Human1.24382999
66FOXP1_21924763_ChIP-Seq_HESCs_Human1.22902920
67CTCF_26484167_Chip-Seq_Bcells_Mouse1.22795704
68VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.22055510
69GATA1_22383799_ChIP-Seq_G1ME_Mouse1.21782816
70XRN2_22483619_ChIP-Seq_HELA_Human1.20990252
71ZFP281_18757296_ChIP-ChIP_E14_Mouse1.20894505
72YY1_22570637_ChIP-Seq_MALME-3M_Human1.20781297
73SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.18247119
74MYB_26560356_Chip-Seq_TH2_Human1.16484102
75RXRA_24833708_ChIP-Seq_LIVER_Mouse1.16480348
76GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.15660401
77* TP63_22573176_ChIP-Seq_HFKS_Human1.15009535
78SPI1_23127762_ChIP-Seq_K562_Human1.14811154
79KDM5A_27292631_Chip-Seq_BREAST_Human1.14788806
80ETS1_21867929_ChIP-Seq_TH2_Mouse1.14731901
81EGR1_19374776_ChIP-ChIP_THP-1_Human1.14688366
82SA1_27219007_Chip-Seq_Bcells_Human1.14293627
83PU.1_20513432_ChIP-Seq_Bcells_Mouse1.14159492
84DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13853726
85PKCTHETA_26484144_Chip-Seq_BREAST_Human1.13581894
86GATA1_19941826_ChIP-Seq_K562_Human1.10928820
87BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10879253
88PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10321883
89SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.10118204
90ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.10052135
91ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09048148
92EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.08943314
93NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.07108554
94RUNX_20019798_ChIP-Seq_JUKART_Human1.06986822
95CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.06656568
96OCT4_19829295_ChIP-Seq_ESCs_Human1.06617925
97SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05775191
98P300_27268052_Chip-Seq_Bcells_Human1.05181418
99TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.04241045
100BRD4_27068464_Chip-Seq_AML-cells_Mouse1.03184618

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology3.47740829
2MP0002396_abnormal_hematopoietic_system3.32886414
3MP0003172_abnormal_lysosome_physiology3.13063367
4MP0001873_stomach_inflammation2.97554933
5MP0005360_urolithiasis2.54826926
6MP0004381_abnormal_hair_follicle2.52560227
7MP0009278_abnormal_bone_marrow2.52346462
8MP0005171_absent_coat_pigmentation2.44624274
9MP0009384_cardiac_valve_regurgitation2.42208222
10MP0001986_abnormal_taste_sensitivity2.41174335
11MP0005076_abnormal_cell_differentiation2.21761080
12MP0003436_decreased_susceptibility_to2.19523912
13MP0001800_abnormal_humoral_immune2.08104270
14MP0000703_abnormal_thymus_morphology2.07091679
15MP0004130_abnormal_muscle_cell2.02551375
16MP0001348_abnormal_lacrimal_gland2.01939353
17MP0005174_abnormal_tail_pigmentation1.95359293
18MP0002398_abnormal_bone_marrow1.91545888
19MP0003705_abnormal_hypodermis_morpholog1.87665116
20MP0001661_extended_life_span1.83128072
21MP0003136_yellow_coat_color1.81902165
22MP0005409_darkened_coat_color1.75158028
23MP0000685_abnormal_immune_system1.74934059
24MP0002933_joint_inflammation1.74269430
25MP0004185_abnormal_adipocyte_glucose1.73352722
26MP0008057_abnormal_DNA_replication1.69831469
27MP0000003_abnormal_adipose_tissue1.68648167
28MP0005058_abnormal_lysosome_morphology1.67614500
29MP0001835_abnormal_antigen_presentation1.66315710
30MP0010155_abnormal_intestine_physiology1.63793339
31MP0001502_abnormal_circadian_rhythm1.63629690
32MP0004808_abnormal_hematopoietic_stem1.61064104
33MP0001849_ear_inflammation1.59851198
34MP0000716_abnormal_immune_system1.57383635
35MP0005451_abnormal_body_composition1.55989843
36MP0008875_abnormal_xenobiotic_pharmacok1.55134441
37MP0002722_abnormal_immune_system1.54718850
38MP0005666_abnormal_adipose_tissue1.54537666
39MP0002723_abnormal_immune_serum1.54351397
40MP0004947_skin_inflammation1.54274940
41MP0002420_abnormal_adaptive_immunity1.52629241
42MP0001819_abnormal_immune_cell1.50560615
43MP0005387_immune_system_phenotype1.50057162
44MP0001790_abnormal_immune_system1.50057162
45MP0005671_abnormal_response_to1.44105653
46MP0000689_abnormal_spleen_morphology1.42968063
47MP0002429_abnormal_blood_cell1.41951626
48MP0002405_respiratory_system_inflammati1.37876379
49MP0004043_abnormal_pH_regulation1.35313950
50MP0005365_abnormal_bile_salt1.32238850
51MP0009333_abnormal_splenocyte_physiolog1.31603121
52MP0008995_early_reproductive_senescence1.30391519
53MP0003111_abnormal_nucleus_morphology1.30208822
54MP0000015_abnormal_ear_pigmentation1.29872333
55MP0002452_abnormal_antigen_presenting1.27630797
56MP0005083_abnormal_biliary_tract1.23246845
57MP0002249_abnormal_larynx_morphology1.19831366
58MP0008260_abnormal_autophagy1.19443161
59MP0005375_adipose_tissue_phenotype1.19328677
60MP0001545_abnormal_hematopoietic_system1.19282325
61MP0005397_hematopoietic_system_phenotyp1.19282325
62MP0002019_abnormal_tumor_incidence1.18153618
63MP0005025_abnormal_response_to1.16270678
64MP0005000_abnormal_immune_tolerance1.09349373
65MP0004264_abnormal_extraembryonic_tissu1.08038919
66MP0000751_myopathy1.05874122
67MP0003866_abnormal_defecation1.04994375
68MP0004858_abnormal_nervous_system1.03990412
69MP0002009_preneoplasia1.03478509
70MP0010307_abnormal_tumor_latency1.03360551
71MP0000858_altered_metastatic_potential1.03181216
72MP0001958_emphysema1.00213880
73MP0004197_abnormal_fetal_growth/weight/0.93306551
74MP0003279_aneurysm0.93032374
75MP0000678_abnormal_parathyroid_gland0.91937492
76MP0010094_abnormal_chromosome_stability0.89148417
77MP0001663_abnormal_digestive_system0.88850428
78MP0002970_abnormal_white_adipose0.86549787
79MP0001270_distended_abdomen0.85575112
80MP0002419_abnormal_innate_immunity0.84494275
81MP0003045_fibrosis0.82170704
82MP0003091_abnormal_cell_migration0.80154911
83MP0001765_abnormal_ion_homeostasis0.79908283
84MP0005220_abnormal_exocrine_pancreas0.75473570
85MP0000470_abnormal_stomach_morphology0.74946629
86MP0002075_abnormal_coat/hair_pigmentati0.74495857
87MP0000013_abnormal_adipose_tissue0.74486436
88MP0009643_abnormal_urine_homeostasis0.70597697
89MP0000538_abnormal_urinary_bladder0.70514784
90MP0000313_abnormal_cell_death0.70400955
91MP0001764_abnormal_homeostasis0.69542191
92MP0005075_abnormal_melanosome_morpholog0.69447368
93MP0000477_abnormal_intestine_morphology0.68966842
94MP0002136_abnormal_kidney_physiology0.68845716
95MP0000490_abnormal_crypts_of0.68733194
96MP0008961_abnormal_basal_metabolism0.68524353
97MP0003183_abnormal_peptide_metabolism0.68368494
98MP0001664_abnormal_digestion0.67430477
99MP0002132_abnormal_respiratory_system0.66811854
100MP0000367_abnormal_coat/_hair0.66710744

Predicted human phenotypes

RankGene SetZ-score
1Colitis (HP:0002583)4.02758267
2Abnormality of the fingertips (HP:0001211)3.98641887
3Thin bony cortex (HP:0002753)3.83259426
4J-shaped sella turcica (HP:0002680)3.76200029
5Panhypogammaglobulinemia (HP:0003139)3.72840621
6Broad face (HP:0000283)3.67109908
7Cervical subluxation (HP:0003308)3.42441127
8Poikiloderma (HP:0001029)3.29850582
9Obstructive sleep apnea (HP:0002870)3.28094687
10Biconcave vertebral bodies (HP:0004586)3.22608252
11Gastrointestinal inflammation (HP:0004386)3.13642135
12Basal cell carcinoma (HP:0002671)3.10073256
13Hemorrhage of the eye (HP:0011885)3.06378893
14Metaphyseal cupping (HP:0003021)3.00051446
15Abnormal delayed hypersensitivity skin test (HP:0002963)2.94345625
16Inflammation of the large intestine (HP:0002037)2.92440365
17Chronic mucocutaneous candidiasis (HP:0002728)2.86380282
18Recurrent cutaneous fungal infections (HP:0011370)2.86380282
19Exercise-induced myalgia (HP:0003738)2.86139961
20Agammaglobulinemia (HP:0004432)2.84543201
21Ulnar bowing (HP:0003031)2.83136746
22Annular pancreas (HP:0001734)2.80798272
23Facial hemangioma (HP:0000329)2.67929404
24Mesangial abnormality (HP:0001966)2.66223460
25Pustule (HP:0200039)2.65656562
26Testicular atrophy (HP:0000029)2.61169489
27Squamous cell carcinoma (HP:0002860)2.59853515
28Recurrent fungal infections (HP:0002841)2.59761701
29Hyperacusis (HP:0010780)2.51927379
30Stridor (HP:0010307)2.51836373
31Attenuation of retinal blood vessels (HP:0007843)2.51832432
32Intestinal fistula (HP:0100819)2.41581027
33Thin ribs (HP:0000883)2.40678789
34Joint stiffness (HP:0001387)2.40593322
35Villous atrophy (HP:0011473)2.38719516
36Abnormality of small intestinal villus morphology (HP:0011472)2.38719516
37Turricephaly (HP:0000262)2.35131243
38Mucopolysacchariduria (HP:0008155)2.34750225
39Urinary glycosaminoglycan excretion (HP:0003541)2.34750225
40Patellar aplasia (HP:0006443)2.33082973
41Seborrheic dermatitis (HP:0001051)2.30503475
42Dislocated radial head (HP:0003083)2.30415359
43Abnormality of mucopolysaccharide metabolism (HP:0011020)2.30407278
44Abnormality of polysaccharide metabolism (HP:0011012)2.30407278
45Abnormality of glycosaminoglycan metabolism (HP:0004371)2.30407278
46Rectal prolapse (HP:0002035)2.28445688
47Rib fusion (HP:0000902)2.26957484
48Optic nerve coloboma (HP:0000588)2.24519671
49Papilledema (HP:0001085)2.22961400
50Gastrointestinal infarctions (HP:0005244)2.22256284
51Myopathic facies (HP:0002058)2.21322509
52Abnormality of the radial head (HP:0003995)2.17295995
53Pointed chin (HP:0000307)2.12288187
54Aplasia/Hypoplasia of the patella (HP:0006498)2.11226617
55Abnormality of DNA repair (HP:0003254)2.10490562
56Syringomyelia (HP:0003396)2.10122007
57Spinal cord lesions (HP:0100561)2.10122007
58Deformed sella turcica (HP:0002681)2.05986859
59Recurrent viral infections (HP:0004429)2.02979551
60Genetic anticipation (HP:0003743)2.02784930
61Easy fatigability (HP:0003388)2.02166051
62Reticulocytosis (HP:0001923)1.98821438
63Aortic regurgitation (HP:0001659)1.98739930
64Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.93972604
65Dysostosis multiplex (HP:0000943)1.91576204
66Facial diplegia (HP:0001349)1.90873870
67Truncus arteriosus (HP:0001660)1.89093919
68Bell-shaped thorax (HP:0001591)1.86941095
69Meningitis (HP:0001287)1.86075360
70Long eyelashes (HP:0000527)1.83995714
71Emphysema (HP:0002097)1.81786807
72Entropion (HP:0000621)1.80300056
73Dyschromatopsia (HP:0007641)1.79734862
74Eczematoid dermatitis (HP:0000976)1.75948624
75Hypertensive crisis (HP:0100735)1.73984194
76Hypoplastic ischia (HP:0003175)1.72188517
77Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.70297097
78Atelectasis (HP:0100750)1.69926482
79Cellulitis (HP:0100658)1.69609734
80Granulocytopenia (HP:0001913)1.68092242
81Spina bifida occulta (HP:0003298)1.65594361
82Prolonged bleeding time (HP:0003010)1.65402076
83Cerebral aneurysm (HP:0004944)1.65358567
84Severe visual impairment (HP:0001141)1.64833963
85Increased IgE level (HP:0003212)1.63847869
86Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.63287804
87Widely patent fontanelles and sutures (HP:0004492)1.63102078
88Delayed epiphyseal ossification (HP:0002663)1.62622197
89Obsessive-compulsive behavior (HP:0000722)1.62557389
90Flat cornea (HP:0007720)1.61667921
91Narrow nasal bridge (HP:0000446)1.60358004
92Hypochromic anemia (HP:0001931)1.59765418
93Progressive external ophthalmoplegia (HP:0000590)1.59632249
94Disproportionate tall stature (HP:0001519)1.59608461
95Bronchomalacia (HP:0002780)1.58501706
96Neonatal respiratory distress (HP:0002643)1.58017497
97Flat acetabular roof (HP:0003180)1.57173599
98Hepatitis (HP:0012115)1.56551307
99Protruding tongue (HP:0010808)1.56473223
100Slender long bone (HP:0003100)1.54806716

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.66742832
2MAP2K33.05958958
3MAP4K12.97972258
4MAP3K102.73311137
5CDK122.73245229
6RIPK42.37598749
7MAP2K62.34663540
8ERN12.26415481
9EEF2K2.21829900
10SIK22.19917375
11SIK12.00839643
12FGFR41.93243986
13MAPK151.91357316
14MAP3K71.86673960
15PKN21.83138562
16TNK21.81633542
17FLT31.75816801
18ZAP701.73989460
19JAK31.72495494
20MAP3K131.70876765
21BLK1.67521907
22WNK41.58414978
23BTK1.56666819
24SMG11.55514260
25PRPF4B1.52256003
26WNK11.47272062
27ICK1.46779138
28GRK61.42579406
29MAPK121.37069887
30CDC42BPA1.34828719
31ITK1.27811260
32MARK21.26366913
33BRD41.24668083
34FGFR21.22304215
35TYRO31.21864429
36SYK1.14232757
37PRKD21.12059091
38TYK21.11802195
39CDK41.10084233
40MAP3K61.06599474
41SIK31.04032366
42MAPK111.00651508
43PDGFRA0.99882831
44FGFR30.97976803
45MAP2K40.94554008
46MTOR0.92240321
47DYRK1A0.91088958
48CAMKK10.88822010
49KIT0.87639332
50MAP3K140.87181199
51PTK60.86338997
52EPHB10.82037093
53TAOK30.81991997
54TEC0.81567163
55RIPK10.81553424
56RET0.81179255
57PDPK10.80215521
58BMX0.78386190
59HCK0.74801792
60NTRK10.74740917
61LCK0.74166484
62RPS6KL10.73952173
63RPS6KC10.73952173
64TBK10.72687942
65IKBKE0.71701575
66RPS6KA60.71278190
67PDK10.68449674
68MAPK70.68352804
69TLK10.68252592
70HIPK20.67070421
71PASK0.66896952
72RPS6KA20.62591172
73DYRK1B0.62226625
74MAP2K20.61100860
75FES0.60873738
76CSK0.58957990
77TXK0.57666032
78MARK30.57084274
79TTN0.57004444
80ERBB20.54764600
81MELK0.53116591
82LYN0.52848696
83PRKD30.52377287
84IRAK40.51305383
85MAPK80.50849624
86JAK20.50309338
87MAPK30.50201389
88ATR0.49758842
89PDGFRB0.49663026
90RPS6KB20.49604077
91KSR20.47433492
92CSF1R0.46503976
93CDK60.43037914
94MAPK100.39570396
95DAPK20.39511095
96PRKCH0.39296528
97INSRR0.36099673
98NEK20.35515956
99MAPK10.35126437
100MET0.34846012

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005113.82083866
2Primary immunodeficiency_Homo sapiens_hsa053402.58905173
3Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.16485437
4Fc epsilon RI signaling pathway_Homo sapiens_hsa046642.00391731
5VEGF signaling pathway_Homo sapiens_hsa043701.94465080
6Glycosaminoglycan degradation_Homo sapiens_hsa005311.92345984
7Acute myeloid leukemia_Homo sapiens_hsa052211.88145108
8B cell receptor signaling pathway_Homo sapiens_hsa046621.84597494
9ABC transporters_Homo sapiens_hsa020101.84361259
10Lysine degradation_Homo sapiens_hsa003101.81781208
11Notch signaling pathway_Homo sapiens_hsa043301.78566934
12T cell receptor signaling pathway_Homo sapiens_hsa046601.69184699
13Cyanoamino acid metabolism_Homo sapiens_hsa004601.63967891
14Non-small cell lung cancer_Homo sapiens_hsa052231.63592541
15mTOR signaling pathway_Homo sapiens_hsa041501.60737304
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.46574268
17Chronic myeloid leukemia_Homo sapiens_hsa052201.45587745
18Phosphatidylinositol signaling system_Homo sapiens_hsa040701.44652972
19Choline metabolism in cancer_Homo sapiens_hsa052311.43132557
20Glycerophospholipid metabolism_Homo sapiens_hsa005641.33292261
21Sulfur relay system_Homo sapiens_hsa041221.31113457
22Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.29862669
23Inositol phosphate metabolism_Homo sapiens_hsa005621.27418242
24AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.24726837
25Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22547358
26Fructose and mannose metabolism_Homo sapiens_hsa000511.21402163
27Phospholipase D signaling pathway_Homo sapiens_hsa040721.20947162
28Neurotrophin signaling pathway_Homo sapiens_hsa047221.17229351
29GnRH signaling pathway_Homo sapiens_hsa049121.15657174
30mRNA surveillance pathway_Homo sapiens_hsa030151.14169278
31Intestinal immune network for IgA production_Homo sapiens_hsa046721.13538886
32Prolactin signaling pathway_Homo sapiens_hsa049171.12786405
33Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.09981398
34Leishmaniasis_Homo sapiens_hsa051401.09693860
35Carbohydrate digestion and absorption_Homo sapiens_hsa049731.07430309
36NF-kappa B signaling pathway_Homo sapiens_hsa040641.06973908
37Graft-versus-host disease_Homo sapiens_hsa053321.02062246
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.00904848
39NOD-like receptor signaling pathway_Homo sapiens_hsa046211.00832419
40Insulin resistance_Homo sapiens_hsa049310.98593869
41Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.98505147
42Influenza A_Homo sapiens_hsa051640.97886639
43Hepatitis C_Homo sapiens_hsa051600.97072026
44Allograft rejection_Homo sapiens_hsa053300.95152042
45Platelet activation_Homo sapiens_hsa046110.94821767
46Autoimmune thyroid disease_Homo sapiens_hsa053200.93945364
47Longevity regulating pathway - mammal_Homo sapiens_hsa042110.92047809
48Toxoplasmosis_Homo sapiens_hsa051450.91089386
49Pancreatic cancer_Homo sapiens_hsa052120.90264157
50Osteoclast differentiation_Homo sapiens_hsa043800.89696648
51ErbB signaling pathway_Homo sapiens_hsa040120.88851173
52Adipocytokine signaling pathway_Homo sapiens_hsa049200.88771569
53Thyroid hormone signaling pathway_Homo sapiens_hsa049190.86712733
54Herpes simplex infection_Homo sapiens_hsa051680.86588194
55FoxO signaling pathway_Homo sapiens_hsa040680.82252247
56TNF signaling pathway_Homo sapiens_hsa046680.77219765
57Hematopoietic cell lineage_Homo sapiens_hsa046400.77137011
58Jak-STAT signaling pathway_Homo sapiens_hsa046300.77052386
59alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.76992112
60Insulin signaling pathway_Homo sapiens_hsa049100.76105659
61Glioma_Homo sapiens_hsa052140.73617747
62HTLV-I infection_Homo sapiens_hsa051660.70020802
63Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.68841488
64Measles_Homo sapiens_hsa051620.68736640
65Fanconi anemia pathway_Homo sapiens_hsa034600.67249078
66Hepatitis B_Homo sapiens_hsa051610.66816028
67Small cell lung cancer_Homo sapiens_hsa052220.66701151
68Endometrial cancer_Homo sapiens_hsa052130.65099757
69Aldosterone synthesis and secretion_Homo sapiens_hsa049250.62278149
70Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.61868892
71Glycerolipid metabolism_Homo sapiens_hsa005610.60811154
72Colorectal cancer_Homo sapiens_hsa052100.60437244
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.60079654
74Toll-like receptor signaling pathway_Homo sapiens_hsa046200.56899367
75Apoptosis_Homo sapiens_hsa042100.55514253
76MAPK signaling pathway_Homo sapiens_hsa040100.53575735
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.52102584
78Estrogen signaling pathway_Homo sapiens_hsa049150.52020361
79Tuberculosis_Homo sapiens_hsa051520.51595236
80Ether lipid metabolism_Homo sapiens_hsa005650.51526434
81Chemokine signaling pathway_Homo sapiens_hsa040620.49572712
82Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47831999
83Prostate cancer_Homo sapiens_hsa052150.47149442
84Linoleic acid metabolism_Homo sapiens_hsa005910.46892138
85Ovarian steroidogenesis_Homo sapiens_hsa049130.46581843
86AMPK signaling pathway_Homo sapiens_hsa041520.46035757
87Staphylococcus aureus infection_Homo sapiens_hsa051500.45853056
88Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45768003
89Base excision repair_Homo sapiens_hsa034100.45483263
90Epstein-Barr virus infection_Homo sapiens_hsa051690.45249205
91MicroRNAs in cancer_Homo sapiens_hsa052060.45109714
92Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43461588
93Bile secretion_Homo sapiens_hsa049760.41611140
94Antigen processing and presentation_Homo sapiens_hsa046120.41533187
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.41125645
96Thyroid cancer_Homo sapiens_hsa052160.40380258
97Type I diabetes mellitus_Homo sapiens_hsa049400.40318444
98Asthma_Homo sapiens_hsa053100.39959313
99Viral carcinogenesis_Homo sapiens_hsa052030.38009197
100Vitamin digestion and absorption_Homo sapiens_hsa049770.37466080

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