MRPL53P1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of memory T cell differentiation (GO:0043380)5.38461276
2rRNA methylation (GO:0031167)5.12863255
3dopamine transport (GO:0015872)5.04492572
4rRNA modification (GO:0000154)4.69847909
5positive regulation of alpha-beta T cell proliferation (GO:0046641)4.22801487
6synapsis (GO:0007129)4.08721386
7necroptotic process (GO:0070266)4.07338582
8positive regulation of interleukin-17 production (GO:0032740)3.98965754
9regulation of RIG-I signaling pathway (GO:0039535)3.74894851
10regulation of B cell receptor signaling pathway (GO:0050855)3.73116877
11centriole replication (GO:0007099)3.60050606
12positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.56281172
13RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.54912879
14positive regulation of granulocyte differentiation (GO:0030854)3.54761677
15negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.44929117
16negative regulation of T-helper cell differentiation (GO:0045623)3.44929117
17regulation of alpha-beta T cell proliferation (GO:0046640)3.43806632
18DNA deamination (GO:0045006)3.42761188
19regulation of regulatory T cell differentiation (GO:0045589)3.34405056
20replication fork processing (GO:0031297)3.33045684
21organelle membrane fusion (GO:0090174)3.32742050
22programmed necrotic cell death (GO:0097300)3.32159071
23RNA methylation (GO:0001510)3.27803733
24reciprocal meiotic recombination (GO:0007131)3.23485175
25reciprocal DNA recombination (GO:0035825)3.23485175
26NIK/NF-kappaB signaling (GO:0038061)3.21620173
27regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.21050090
28negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.19666560
29positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.17751834
30regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.17715310
31necrotic cell death (GO:0070265)3.16129078
32neutrophil activation involved in immune response (GO:0002283)3.14014680
33negative regulation of DNA-dependent DNA replication (GO:2000104)3.08594977
34inositol phosphate catabolic process (GO:0071545)2.98341822
35regulation of female gonad development (GO:2000194)2.97237837
36sensory perception of smell (GO:0007608)2.96665818
37cellular ketone body metabolic process (GO:0046950)2.96584242
38lymph node development (GO:0048535)2.95494189
39regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.93597876
40protein localization to Golgi apparatus (GO:0034067)2.93116218
41double-strand break repair via homologous recombination (GO:0000724)2.91913919
42recombinational repair (GO:0000725)2.91620498
43proteasome assembly (GO:0043248)2.91186273
44negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.86736274
45regulation of interleukin-17 production (GO:0032660)2.86395417
46catecholamine transport (GO:0051937)2.85001523
47rRNA catabolic process (GO:0016075)2.83245687
48ketone body metabolic process (GO:1902224)2.81504731
49inositol phosphate dephosphorylation (GO:0046855)2.81179675
50phosphorylated carbohydrate dephosphorylation (GO:0046838)2.81179675
51regulation of establishment of cell polarity (GO:2000114)2.80806330
52intra-S DNA damage checkpoint (GO:0031573)2.79529026
53DNA double-strand break processing (GO:0000729)2.78596556
54regulation of meiosis I (GO:0060631)2.78313364
55mitochondrial RNA metabolic process (GO:0000959)2.77708194
56regulation of protein polyubiquitination (GO:1902914)2.75816407
57regulation of DNA endoreduplication (GO:0032875)2.72924309
58positive regulation of gamma-delta T cell activation (GO:0046645)2.68712624
59monoubiquitinated protein deubiquitination (GO:0035520)2.67997938
60RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.67710175
61tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.67710175
62AMP metabolic process (GO:0046033)2.66732489
63phosphorelay signal transduction system (GO:0000160)2.64834303
64regulation of DNA recombination (GO:0000018)2.63348186
65pyrimidine dimer repair (GO:0006290)2.63249896
66dopamine biosynthetic process (GO:0042416)2.61311380
67mast cell activation (GO:0045576)2.58298388
68prenylation (GO:0097354)2.55691193
69protein prenylation (GO:0018342)2.55691193
70detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.54867014
71monoamine transport (GO:0015844)2.54188757
72regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.53749366
73regulation of necroptotic process (GO:0060544)2.53308791
74piRNA metabolic process (GO:0034587)2.50048718
75hepatocyte apoptotic process (GO:0097284)2.48894314
76regulation of gamma-delta T cell differentiation (GO:0045586)2.48042376
77polyol catabolic process (GO:0046174)2.47925932
78protein K6-linked ubiquitination (GO:0085020)2.47483961
79ADP metabolic process (GO:0046031)2.47409238
80protein K11-linked deubiquitination (GO:0035871)2.46586021
81protoporphyrinogen IX metabolic process (GO:0046501)2.45089106
82histone mRNA catabolic process (GO:0071044)2.43883875
83response to pheromone (GO:0019236)2.43823889
84T cell proliferation (GO:0042098)2.42795346
85positive regulation of glycoprotein biosynthetic process (GO:0010560)2.42491413
86regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.40739338
87maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.39520197
88autophagic vacuole fusion (GO:0000046)2.38937715
89regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.38687804
90positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.38687804
91regulation of establishment or maintenance of cell polarity (GO:0032878)2.38295555
92regulation of catecholamine metabolic process (GO:0042069)2.38261194
93regulation of dopamine metabolic process (GO:0042053)2.38261194
94negative regulation of DNA recombination (GO:0045910)2.35983268
95poly(A)+ mRNA export from nucleus (GO:0016973)2.35919938
96base-excision repair, AP site formation (GO:0006285)2.35830904
97mannosylation (GO:0097502)2.35161294
98positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.34905010
99positive regulation of mRNA catabolic process (GO:0061014)2.32318112
100positive regulation of natural killer cell activation (GO:0032816)2.31567714

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ELF1_17652178_ChIP-ChIP_JURKAT_Human3.60594866
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.20575848
3E2F7_22180533_ChIP-Seq_HELA_Human2.86239099
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.80317459
5GABP_17652178_ChIP-ChIP_JURKAT_Human2.77641949
6NOTCH1_21737748_ChIP-Seq_TLL_Human2.70251532
7VDR_22108803_ChIP-Seq_LS180_Human2.65479104
8E2F4_17652178_ChIP-ChIP_JURKAT_Human2.60513941
9FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.59266787
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.40868485
11IGF1R_20145208_ChIP-Seq_DFB_Human2.38258503
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.33555636
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.32514121
14ELK1_19687146_ChIP-ChIP_HELA_Human2.23642132
15ZNF274_21170338_ChIP-Seq_K562_Hela2.22518598
16IRF8_22096565_ChIP-ChIP_GC-B_Human2.17512620
17VDR_23849224_ChIP-Seq_CD4+_Human2.16139265
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.14593708
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.94105011
20STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.92366814
21NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.85702710
22FOXP3_21729870_ChIP-Seq_TREG_Human1.80080159
23IRF8_21731497_ChIP-ChIP_J774_Mouse1.72306201
24PADI4_21655091_ChIP-ChIP_MCF-7_Human1.72006051
25RBPJ_22232070_ChIP-Seq_NCS_Mouse1.70798616
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.70605094
27IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.70361207
28GATA1_22025678_ChIP-Seq_K562_Human1.67033172
29MYB_26560356_Chip-Seq_TH2_Human1.66662907
30CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.65959259
31SRF_21415370_ChIP-Seq_HL-1_Mouse1.64317118
32ER_23166858_ChIP-Seq_MCF-7_Human1.63825283
33PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63060472
34PCGF2_27294783_Chip-Seq_ESCs_Mouse1.61490920
35SCL_19346495_ChIP-Seq_HPC-7_Human1.60336404
36HOXB4_20404135_ChIP-ChIP_EML_Mouse1.59005220
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.57215303
38RUNX_20019798_ChIP-Seq_JUKART_Human1.53217432
39FUS_26573619_Chip-Seq_HEK293_Human1.51746097
40GBX2_23144817_ChIP-Seq_PC3_Human1.50147169
41CREB1_15753290_ChIP-ChIP_HEK293T_Human1.49624535
42CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.48842596
43EZH2_27294783_Chip-Seq_NPCs_Mouse1.48838908
44EWS_26573619_Chip-Seq_HEK293_Human1.47778829
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44735309
46GATA3_26560356_Chip-Seq_TH2_Human1.43405409
47JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.36246623
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.31263065
49TAF15_26573619_Chip-Seq_HEK293_Human1.29406378
50NFE2_27457419_Chip-Seq_LIVER_Mouse1.29405750
51DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.29113592
52STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.28157755
53FOXA1_21572438_ChIP-Seq_LNCaP_Human1.27171826
54TP53_22573176_ChIP-Seq_HFKS_Human1.26048310
55ETS1_20019798_ChIP-Seq_JURKAT_Human1.25919374
56RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24301285
57GATA3_27048872_Chip-Seq_THYMUS_Human1.23650524
58IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.23406840
59SALL4_22934838_ChIP-ChIP_CD34+_Human1.22540764
60FOXA1_25329375_ChIP-Seq_VCAP_Human1.22485920
61FOXA1_27270436_Chip-Seq_PROSTATE_Human1.22485920
62CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.22349602
63IRF1_19129219_ChIP-ChIP_H3396_Human1.21900016
64CRX_20693478_ChIP-Seq_RETINA_Mouse1.19494524
65ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18890519
66KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.17627629
67MYB_26560356_Chip-Seq_TH1_Human1.14939349
68NANOG_19829295_ChIP-Seq_ESCs_Human1.09638112
69SOX2_19829295_ChIP-Seq_ESCs_Human1.09638112
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09492504
71EGR1_23403033_ChIP-Seq_LIVER_Mouse1.08054120
72EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.07402453
73CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.06266549
74SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05773830
75RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.03313647
76STAT3_18555785_Chip-Seq_ESCs_Mouse1.02102071
77IRF8_27001747_Chip-Seq_BMDM_Mouse1.01597710
78SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.01346097
79OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01154984
80STAT3_23295773_ChIP-Seq_U87_Human0.97626979
81PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97048770
82MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.96926284
83PHF8_20622853_ChIP-Seq_HELA_Human0.96176417
84P300_18555785_Chip-Seq_ESCs_Mouse0.95653270
85CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.95480577
86ZFP57_27257070_Chip-Seq_ESCs_Mouse0.95441246
87GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95108671
88RBPJ_21746931_ChIP-Seq_IB4_Human0.94978295
89PRDM14_20953172_ChIP-Seq_ESCs_Human0.94627250
90E2F1_18555785_Chip-Seq_ESCs_Mouse0.94603937
91OCT4_18555785_Chip-Seq_ESCs_Mouse0.93936661
92SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.93165036
93FLI1_21867929_ChIP-Seq_TH2_Mouse0.92974206
94CDX2_22108803_ChIP-Seq_LS180_Human0.92869268
95EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.92834198
96ETV1_20927104_ChIP-Seq_GIST48_Human0.91879245
97GATA3_26560356_Chip-Seq_TH1_Human0.91826056
98GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.91712965
99NMYC_18555785_Chip-Seq_ESCs_Mouse0.91177386
100CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90998686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.99047624
2MP0008877_abnormal_DNA_methylation3.17776027
3MP0003787_abnormal_imprinting3.07131242
4MP0008057_abnormal_DNA_replication2.81188862
5MP0008058_abnormal_DNA_repair2.69350344
6MP0002396_abnormal_hematopoietic_system2.60161578
7MP0008995_early_reproductive_senescence2.49630191
8MP0005379_endocrine/exocrine_gland_phen2.44475401
9MP0003786_premature_aging2.42522301
10MP0003806_abnormal_nucleotide_metabolis2.42077523
11MP0010094_abnormal_chromosome_stability2.40977335
12MP0002163_abnormal_gland_morphology2.37075893
13MP0003763_abnormal_thymus_physiology2.20951955
14MP0000372_irregular_coat_pigmentation2.02567580
15MP0005075_abnormal_melanosome_morpholog1.98476748
16MP0009785_altered_susceptibility_to1.98028119
17MP0000685_abnormal_immune_system1.92904268
18MP0001835_abnormal_antigen_presentation1.92627357
19MP0004147_increased_porphyrin_level1.75460895
20MP0003646_muscle_fatigue1.71194714
21MP0003724_increased_susceptibility_to1.67814869
22MP0000569_abnormal_digit_pigmentation1.67195444
23MP0008872_abnormal_physiological_respon1.64255206
24MP0003183_abnormal_peptide_metabolism1.61682281
25MP0002148_abnormal_hypersensitivity_rea1.59789197
26MP0003656_abnormal_erythrocyte_physiolo1.58619250
27MP0003718_maternal_effect1.54932104
28MP0001800_abnormal_humoral_immune1.52310891
29MP0006036_abnormal_mitochondrial_physio1.51659468
30MP0000015_abnormal_ear_pigmentation1.48459222
31MP0006054_spinal_hemorrhage1.47932029
32MP0009333_abnormal_splenocyte_physiolog1.47879560
33MP0005397_hematopoietic_system_phenotyp1.47388412
34MP0001545_abnormal_hematopoietic_system1.47388412
35MP0001764_abnormal_homeostasis1.43491197
36MP0000689_abnormal_spleen_morphology1.43460482
37MP0001501_abnormal_sleep_pattern1.41300705
38MP0002398_abnormal_bone_marrow1.39218798
39MP0003943_abnormal_hepatobiliary_system1.38230693
40MP0005671_abnormal_response_to1.36354730
41MP0005000_abnormal_immune_tolerance1.34546637
42MP0002722_abnormal_immune_system1.31830529
43MP0002723_abnormal_immune_serum1.31516979
44MP0000703_abnormal_thymus_morphology1.30944687
45MP0009697_abnormal_copulation1.29785869
46MP0002876_abnormal_thyroid_physiology1.28127212
47MP0002638_abnormal_pupillary_reflex1.23434082
48MP0000716_abnormal_immune_system1.19108714
49MP0002420_abnormal_adaptive_immunity1.16794473
50MP0002132_abnormal_respiratory_system1.16551332
51MP0001819_abnormal_immune_cell1.16227182
52MP0001905_abnormal_dopamine_level1.15925951
53MP0002019_abnormal_tumor_incidence1.14699797
54MP0002452_abnormal_antigen_presenting1.10822702
55MP0002429_abnormal_blood_cell1.10738501
56MP0001853_heart_inflammation1.10539108
57MP0009278_abnormal_bone_marrow1.10259340
58MP0008775_abnormal_heart_ventricle1.06057431
59MP0005464_abnormal_platelet_physiology1.03071819
60MP0001873_stomach_inflammation1.02994800
61MP0002166_altered_tumor_susceptibility1.02385095
62MP0005387_immune_system_phenotype1.01957115
63MP0001790_abnormal_immune_system1.01957115
64MP0003866_abnormal_defecation1.00734790
65MP0001986_abnormal_taste_sensitivity0.99551491
66MP0009764_decreased_sensitivity_to0.99211077
67MP0001929_abnormal_gametogenesis0.98590037
68MP0001191_abnormal_skin_condition0.97991179
69MP0005410_abnormal_fertilization0.95058648
70MP0005084_abnormal_gallbladder_morpholo0.95032676
71MP0005310_abnormal_salivary_gland0.94543715
72MP0005332_abnormal_amino_acid0.93992708
73MP0005174_abnormal_tail_pigmentation0.91703048
74MP0008875_abnormal_xenobiotic_pharmacok0.89338102
75MP0005083_abnormal_biliary_tract0.89242666
76MP0005025_abnormal_response_to0.88994156
77MP0002405_respiratory_system_inflammati0.88564570
78MP0010155_abnormal_intestine_physiology0.88352066
79MP0002095_abnormal_skin_pigmentation0.88244337
80MP0001845_abnormal_inflammatory_respons0.87149440
81MP0004883_abnormal_blood_vessel0.85002691
82MP0001177_atelectasis0.84149200
83MP0004957_abnormal_blastocyst_morpholog0.83518875
84MP0005266_abnormal_metabolism0.83183143
85MP0005376_homeostasis/metabolism_phenot0.82350808
86MP0003123_paternal_imprinting0.80995800
87MP0006082_CNS_inflammation0.80970536
88MP0006072_abnormal_retinal_apoptosis0.80156025
89MP0003121_genomic_imprinting0.80124178
90MP0004484_altered_response_of0.79122574
91MP0002419_abnormal_innate_immunity0.78649406
92MP0001119_abnormal_female_reproductive0.76694210
93MP0003436_decreased_susceptibility_to0.76535244
94MP0004808_abnormal_hematopoietic_stem0.76482597
95MP0002006_tumorigenesis0.74431383
96MP0005551_abnormal_eye_electrophysiolog0.73340710
97MP0010386_abnormal_urinary_bladder0.72781463
98MP0003252_abnormal_bile_duct0.72429936
99MP0000427_abnormal_hair_cycle0.70995897
100MP0005253_abnormal_eye_physiology0.69809999

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)3.76774239
2Chromosomal breakage induced by crosslinking agents (HP:0003221)3.49611747
3Abnormality of DNA repair (HP:0003254)3.32634250
4Autoimmune hemolytic anemia (HP:0001890)3.29752003
5Metaphyseal dysplasia (HP:0100255)3.14211325
6Severe visual impairment (HP:0001141)3.04614141
7Abnormality of T cell number (HP:0011839)2.93607299
8Increased CSF lactate (HP:0002490)2.83884236
9Abnormality of chromosome stability (HP:0003220)2.82567500
10IgM deficiency (HP:0002850)2.82553743
11Duplicated collecting system (HP:0000081)2.69938863
12Neonatal respiratory distress (HP:0002643)2.69238639
13Attenuation of retinal blood vessels (HP:0007843)2.64624655
14Aplasia/Hypoplasia of the uvula (HP:0010293)2.60489571
15T lymphocytopenia (HP:0005403)2.54329243
16Progressive microcephaly (HP:0000253)2.53343779
17Abnormality of the renal collecting system (HP:0004742)2.52968186
18IgG deficiency (HP:0004315)2.51637920
19Clubbing of toes (HP:0100760)2.49611919
20Abnormality of glycolysis (HP:0004366)2.47294331
21Increased serum pyruvate (HP:0003542)2.46568022
22Abnormality of macular pigmentation (HP:0008002)2.43281762
23Abnormality of the preputium (HP:0100587)2.43137002
24Hypoplastic iliac wings (HP:0002866)2.42726284
25Gonadotropin excess (HP:0000837)2.40579727
26Enlarged epiphyses (HP:0010580)2.38498514
27Brushfield spots (HP:0001088)2.36961260
28Abnormality of the fovea (HP:0000493)2.35941291
29Stomach cancer (HP:0012126)2.34560959
30Abnormal rod and cone electroretinograms (HP:0008323)2.31469515
31Increased serum lactate (HP:0002151)2.30345030
32Increased hepatocellular lipid droplets (HP:0006565)2.29259409
33Acute encephalopathy (HP:0006846)2.26416802
34Myelodysplasia (HP:0002863)2.25345643
35Hypokinesia (HP:0002375)2.24470371
36Renal cortical cysts (HP:0000803)2.24335899
37Limb dystonia (HP:0002451)2.22714505
38Aplasia/Hypoplasia of the fovea (HP:0008060)2.21320531
39Hypoplasia of the fovea (HP:0007750)2.21320531
40Acute myeloid leukemia (HP:0004808)2.21256762
41Abnormality of the ileum (HP:0001549)2.20552607
42Lipid accumulation in hepatocytes (HP:0006561)2.19058709
43Meckel diverticulum (HP:0002245)2.18954052
44Acute necrotizing encephalopathy (HP:0006965)2.18168298
45Neoplasm of the adrenal gland (HP:0100631)2.18080220
46Small intestinal stenosis (HP:0012848)2.16853441
47Duodenal stenosis (HP:0100867)2.16853441
48Abnormality of the pons (HP:0007361)2.16444398
49Abnormality of B cell number (HP:0010975)2.15126819
50Hypoplasia of the pons (HP:0012110)2.12439639
51Constricted visual fields (HP:0001133)2.12329765
52Abnormality of T cells (HP:0002843)2.12216010
53Limb hypertonia (HP:0002509)2.11601892
54Mitochondrial inheritance (HP:0001427)2.07876215
55Stomatitis (HP:0010280)2.07574009
56Sloping forehead (HP:0000340)2.07299547
57Absent rod-and cone-mediated responses on ERG (HP:0007688)2.07081689
58Progressive macrocephaly (HP:0004481)2.05037742
59Embryonal renal neoplasm (HP:0011794)2.04023358
60Abnormal delayed hypersensitivity skin test (HP:0002963)2.02609449
61Type II lissencephaly (HP:0007260)2.01634857
62Hepatic necrosis (HP:0002605)2.00616132
63Abnormality of T cell physiology (HP:0011840)2.00266799
64Abnormality of pyrimidine metabolism (HP:0004353)1.93788409
65Nephroblastoma (Wilms tumor) (HP:0002667)1.93191151
66Birth length less than 3rd percentile (HP:0003561)1.90931578
67Gaze-evoked nystagmus (HP:0000640)1.90639772
68Menstrual irregularities (HP:0000858)1.90115925
69Nephronophthisis (HP:0000090)1.88618821
70Congenital stationary night blindness (HP:0007642)1.88312900
71Abnormal mitochondria in muscle tissue (HP:0008316)1.85690430
72Increased IgM level (HP:0003496)1.84043899
73Carpal bone hypoplasia (HP:0001498)1.81711989
74Abnormal spermatogenesis (HP:0008669)1.81201847
75Medial flaring of the eyebrow (HP:0010747)1.79407745
76Neoplasm of the adrenal cortex (HP:0100641)1.79321010
77Paralysis (HP:0003470)1.79173840
78Disproportionate short-trunk short stature (HP:0003521)1.77993772
79Optic disc pallor (HP:0000543)1.74652243
80Elevated erythrocyte sedimentation rate (HP:0003565)1.72602682
81Abnormality of the duodenum (HP:0002246)1.72107138
82Gonadal dysgenesis (HP:0000133)1.72080716
83Diastasis recti (HP:0001540)1.72069146
84Acute lymphatic leukemia (HP:0006721)1.72020397
85Albinism (HP:0001022)1.71505146
86Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.71457527
87Abnormality of alanine metabolism (HP:0010916)1.71457527
88Hyperalaninemia (HP:0003348)1.71457527
89Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.70686088
90Intellectual disability, profound (HP:0002187)1.70637766
91Lactic acidosis (HP:0003128)1.70613176
92Molar tooth sign on MRI (HP:0002419)1.69167790
93Abnormality of midbrain morphology (HP:0002418)1.69167790
94Patchy hypopigmentation of hair (HP:0011365)1.68753638
95Respiratory difficulties (HP:0002880)1.68156156
96Ovarian neoplasm (HP:0100615)1.67550700
97Alveolar cell carcinoma (HP:0006519)1.67482160
98Central scotoma (HP:0000603)1.67327100
99Aplasia/Hypoplasia of the macula (HP:0008059)1.67278902
100Abnormal glycosylation (HP:0012345)1.66861691

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NUAK14.40476936
2PDK23.33894456
3RIPK43.15607542
4MST43.07734911
5FRK3.06993273
6LATS12.76665978
7EIF2AK12.36023645
8PLK42.30517219
9EIF2AK32.23123045
10ZAK2.20713192
11TXK2.19839645
12CDC72.17499318
13PINK12.11120870
14BUB12.02764683
15TEC2.01319538
16ACVR1B1.91026864
17TAOK31.85340882
18BMPR1B1.62639519
19BRSK21.61391312
20BMPR21.60056831
21MAP3K21.50647746
22PLK21.45279850
23ITK1.24676822
24FLT31.23437308
25PIK3CG1.23103017
26PLK31.20189850
27VRK11.17447228
28ADRBK21.17338754
29BCR1.14670199
30TTK1.11487567
31WNK41.04301189
32AKT31.01888758
33CAMKK20.99397110
34MAP4K10.94753777
35MAP2K30.94715577
36MAP2K60.93915851
37IKBKB0.90958617
38CSNK1G30.90232223
39MAP4K20.87338127
40WEE10.86043618
41CSNK1G20.82249466
42KIT0.80958349
43TSSK60.80905877
44TRIM280.79224495
45TNIK0.75444715
46FES0.75295282
47MAPK110.73956856
48MAPK130.73384505
49GRK60.73251252
50PBK0.71251800
51PRKCQ0.70705010
52CSNK1G10.70653885
53CDK30.69065327
54ATR0.68810297
55TRPM70.67901026
56EIF2AK20.67550016
57VRK20.66858671
58WNK10.66024276
59PLK10.65193796
60SYK0.65026644
61BTK0.64852140
62MAPKAPK50.63750310
63OXSR10.60824897
64PTK2B0.60756220
65JAK10.60247669
66GRK50.59857610
67MELK0.59640849
68LCK0.59272252
69IRAK10.58368454
70CHEK20.58307553
71NLK0.57539392
72TNK20.57185716
73ERBB30.57016481
74DYRK1A0.56039494
75GRK10.55311757
76ADRBK10.55066187
77PHKG10.55000293
78PHKG20.55000293
79PAK30.53991381
80SRPK10.50733580
81STK30.50643873
82ATM0.50095262
83HCK0.46729676
84YES10.45721950
85MKNK20.44736336
86TAF10.43930185
87MAP3K120.43678373
88STK40.42480212
89CSF1R0.42013873
90NEK10.40101713
91ERBB40.39974935
92BRSK10.39934181
93PKN10.39387695
94PASK0.39194970
95MAP3K140.36357448
96CSNK1D0.34816382
97CHEK10.34789716
98MAP3K50.33747082
99HIPK20.32974158
100PIK3CA0.32234368

Predicted pathways (KEGG)

RankGene SetZ-score
1Homologous recombination_Homo sapiens_hsa034404.45523309
2Fanconi anemia pathway_Homo sapiens_hsa034602.97791934
3Cyanoamino acid metabolism_Homo sapiens_hsa004602.77458100
4Non-homologous end-joining_Homo sapiens_hsa034502.45573002
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.38242768
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.31153354
7Butanoate metabolism_Homo sapiens_hsa006502.22474319
8RNA degradation_Homo sapiens_hsa030182.18870471
9Selenocompound metabolism_Homo sapiens_hsa004502.15835411
10Proteasome_Homo sapiens_hsa030502.12960123
11One carbon pool by folate_Homo sapiens_hsa006702.11091085
12NOD-like receptor signaling pathway_Homo sapiens_hsa046212.09663516
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.99243056
14Mismatch repair_Homo sapiens_hsa034301.91825560
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.89579538
16Nitrogen metabolism_Homo sapiens_hsa009101.76559894
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70888918
18Basal transcription factors_Homo sapiens_hsa030221.56811598
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.50051488
20RNA polymerase_Homo sapiens_hsa030201.49700190
21Olfactory transduction_Homo sapiens_hsa047401.45811744
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.40934078
23Primary immunodeficiency_Homo sapiens_hsa053401.39229718
24Steroid biosynthesis_Homo sapiens_hsa001001.39106101
25DNA replication_Homo sapiens_hsa030301.38494548
26SNARE interactions in vesicular transport_Homo sapiens_hsa041301.37343295
27Base excision repair_Homo sapiens_hsa034101.34279303
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.28735404
29Propanoate metabolism_Homo sapiens_hsa006401.22652005
30Asthma_Homo sapiens_hsa053101.22110608
31Pyrimidine metabolism_Homo sapiens_hsa002401.22012180
32Sulfur metabolism_Homo sapiens_hsa009201.18837562
33Parkinsons disease_Homo sapiens_hsa050121.15939650
34Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.11344963
35Jak-STAT signaling pathway_Homo sapiens_hsa046301.10599072
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.09420047
37T cell receptor signaling pathway_Homo sapiens_hsa046601.09014990
38Dorso-ventral axis formation_Homo sapiens_hsa043201.07629645
39NF-kappa B signaling pathway_Homo sapiens_hsa040641.06510897
40Fatty acid elongation_Homo sapiens_hsa000621.03422720
41Measles_Homo sapiens_hsa051621.00103150
42Circadian rhythm_Homo sapiens_hsa047100.99672204
43Oxidative phosphorylation_Homo sapiens_hsa001900.98811842
44Inositol phosphate metabolism_Homo sapiens_hsa005620.97927140
45Purine metabolism_Homo sapiens_hsa002300.95352249
46Amphetamine addiction_Homo sapiens_hsa050310.93843102
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.93466096
48RNA transport_Homo sapiens_hsa030130.93380649
49Collecting duct acid secretion_Homo sapiens_hsa049660.93136429
50Protein export_Homo sapiens_hsa030600.93059704
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89935252
52TNF signaling pathway_Homo sapiens_hsa046680.89149929
53Peroxisome_Homo sapiens_hsa041460.88285106
54Taste transduction_Homo sapiens_hsa047420.84028499
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.80351303
56p53 signaling pathway_Homo sapiens_hsa041150.79725929
57Legionellosis_Homo sapiens_hsa051340.79359234
58Nucleotide excision repair_Homo sapiens_hsa034200.78280146
59RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.77141314
60Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75228288
61Sphingolipid metabolism_Homo sapiens_hsa006000.73214641
62Cell cycle_Homo sapiens_hsa041100.72526920
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71472013
64Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.69058079
65Pyruvate metabolism_Homo sapiens_hsa006200.66030360
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64714667
67Phosphatidylinositol signaling system_Homo sapiens_hsa040700.64119686
68Oocyte meiosis_Homo sapiens_hsa041140.63204639
69Fatty acid degradation_Homo sapiens_hsa000710.61758890
70B cell receptor signaling pathway_Homo sapiens_hsa046620.61487950
71Vitamin B6 metabolism_Homo sapiens_hsa007500.60629273
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59557850
73Ether lipid metabolism_Homo sapiens_hsa005650.58723836
74Spliceosome_Homo sapiens_hsa030400.57846577
75Linoleic acid metabolism_Homo sapiens_hsa005910.55101728
76Primary bile acid biosynthesis_Homo sapiens_hsa001200.54522475
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53693574
78Metabolic pathways_Homo sapiens_hsa011000.52432979
79Regulation of autophagy_Homo sapiens_hsa041400.52087850
80Sulfur relay system_Homo sapiens_hsa041220.51929705
81Cocaine addiction_Homo sapiens_hsa050300.50053622
82African trypanosomiasis_Homo sapiens_hsa051430.48883706
83mRNA surveillance pathway_Homo sapiens_hsa030150.48359705
84Fatty acid metabolism_Homo sapiens_hsa012120.45565942
85Type I diabetes mellitus_Homo sapiens_hsa049400.43460731
86Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43244717
87Glycerolipid metabolism_Homo sapiens_hsa005610.42235458
88Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.41086066
89Huntingtons disease_Homo sapiens_hsa050160.38932449
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.38930237
91Hematopoietic cell lineage_Homo sapiens_hsa046400.38748850
92Rheumatoid arthritis_Homo sapiens_hsa053230.38332049
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37727502
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35921688
95Tryptophan metabolism_Homo sapiens_hsa003800.35650721
96Alzheimers disease_Homo sapiens_hsa050100.35252110
97Fatty acid biosynthesis_Homo sapiens_hsa000610.31970667
98Fructose and mannose metabolism_Homo sapiens_hsa000510.30537483
99Chemokine signaling pathway_Homo sapiens_hsa040620.28146531
100Herpes simplex infection_Homo sapiens_hsa051680.27358049

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