RPF2P1

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
1maturation of SSU-rRNA (GO:0030490)5.55613170
2establishment of protein localization to mitochondrial membrane (GO:0090151)5.32681644
3chaperone-mediated protein transport (GO:0072321)5.05927167
4ATP synthesis coupled proton transport (GO:0015986)4.78288342
5energy coupled proton transport, down electrochemical gradient (GO:0015985)4.78288342
6mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.74407924
7proteasome assembly (GO:0043248)4.61281972
8mitochondrial respiratory chain complex I assembly (GO:0032981)4.56745556
9NADH dehydrogenase complex assembly (GO:0010257)4.56745556
10mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.56745556
11DNA deamination (GO:0045006)4.49042758
12cullin deneddylation (GO:0010388)4.46077733
13protein complex biogenesis (GO:0070271)4.43815857
14tongue development (GO:0043586)4.31508375
15protein deneddylation (GO:0000338)4.31029308
16mitochondrial respiratory chain complex assembly (GO:0033108)4.25680290
17mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.15668890
18ribonucleoprotein complex disassembly (GO:0032988)4.06189501
19maturation of 5.8S rRNA (GO:0000460)4.02697641
20pseudouridine synthesis (GO:0001522)3.92158441
21rRNA modification (GO:0000154)3.89796221
22transcription from mitochondrial promoter (GO:0006390)3.88835641
23organelle disassembly (GO:1903008)3.84487185
24exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.74862099
25rRNA methylation (GO:0031167)3.73576166
26L-fucose catabolic process (GO:0042355)3.73338823
27fucose catabolic process (GO:0019317)3.73338823
28L-fucose metabolic process (GO:0042354)3.73338823
29respiratory electron transport chain (GO:0022904)3.72928843
30nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.69853210
31electron transport chain (GO:0022900)3.66590938
32respiratory chain complex IV assembly (GO:0008535)3.54131624
33RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.53469347
34response to pheromone (GO:0019236)3.51830323
35rRNA processing (GO:0006364)3.44114163
36protein targeting to mitochondrion (GO:0006626)3.39920011
37behavioral response to nicotine (GO:0035095)3.39263125
38cellular component biogenesis (GO:0044085)3.35127162
39positive regulation of protein homodimerization activity (GO:0090073)3.34601457
40ribosomal small subunit biogenesis (GO:0042274)3.29643382
41rRNA metabolic process (GO:0016072)3.28242490
42ribosome biogenesis (GO:0042254)3.22444422
43establishment of protein localization to mitochondrion (GO:0072655)3.17982634
44cytochrome complex assembly (GO:0017004)3.13206466
45ribonucleoprotein complex biogenesis (GO:0022613)3.11291147
46deoxyribose phosphate biosynthetic process (GO:0046385)3.10954513
472-deoxyribonucleotide biosynthetic process (GO:0009265)3.10954513
48termination of RNA polymerase I transcription (GO:0006363)3.09968716
49transcription initiation from RNA polymerase I promoter (GO:0006361)3.06185312
50regulation of RIG-I signaling pathway (GO:0039535)3.02472311
51regulation of cellular respiration (GO:0043457)3.02463488
52regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.02421755
53purine nucleoside triphosphate biosynthetic process (GO:0009145)2.97729068
54base-excision repair, AP site formation (GO:0006285)2.97691081
55transcription from RNA polymerase I promoter (GO:0006360)2.96730323
56regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.96257732
57ribosome assembly (GO:0042255)2.94939319
58spliceosomal complex assembly (GO:0000245)2.94466130
59mitochondrial transport (GO:0006839)2.90779344
60protein localization to mitochondrion (GO:0070585)2.90369144
61substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.90119241
62substrate-independent telencephalic tangential migration (GO:0021826)2.90119241
63regulation of cellular amino acid metabolic process (GO:0006521)2.89422080
64protein polyglutamylation (GO:0018095)2.89343051
65ATP biosynthetic process (GO:0006754)2.89283121
66histone mRNA metabolic process (GO:0008334)2.86450563
67ribosomal large subunit biogenesis (GO:0042273)2.85709923
68transcription elongation from RNA polymerase I promoter (GO:0006362)2.82268520
69purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.81362629
70deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.81335305
71resolution of meiotic recombination intermediates (GO:0000712)2.76202961
72somatic hypermutation of immunoglobulin genes (GO:0016446)2.76002314
73somatic diversification of immune receptors via somatic mutation (GO:0002566)2.76002314
74cellular response to nicotine (GO:0071316)2.74969807
75righting reflex (GO:0060013)2.73566033
76oxidative phosphorylation (GO:0006119)2.73512913
77regulation of DNA endoreduplication (GO:0032875)2.73208991
78translation (GO:0006412)2.70754416
79adaptation of signaling pathway (GO:0023058)2.70630755
80mRNA cleavage (GO:0006379)2.68342936
81pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.67995130
82tRNA processing (GO:0008033)2.65807718
83pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.64468327
84DNA replication checkpoint (GO:0000076)2.64171691
85regulation of mitochondrial translation (GO:0070129)2.64042074
86intracellular protein transmembrane import (GO:0044743)2.63243153
87mannosylation (GO:0097502)2.62109648
88ribosomal small subunit assembly (GO:0000028)2.61525393
89viral mRNA export from host cell nucleus (GO:0046784)2.59032445
90RNA phosphodiester bond hydrolysis (GO:0090501)2.56300156
91GTP biosynthetic process (GO:0006183)2.56281071
92DNA damage response, detection of DNA damage (GO:0042769)2.55973799
93spliceosomal snRNP assembly (GO:0000387)2.55277463
94cellular respiration (GO:0045333)2.55073628
95negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.54289920
96chromatin remodeling at centromere (GO:0031055)2.53920679
97synapsis (GO:0007129)2.52909072
98kynurenine metabolic process (GO:0070189)2.52438453
99ncRNA processing (GO:0034470)2.52135098
100protein neddylation (GO:0045116)2.51041310

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.01745263
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.44354748
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.32882965
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.18877930
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.06625381
6MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.02023289
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.89680795
8VDR_22108803_ChIP-Seq_LS180_Human2.83962780
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.60072666
10ELF1_17652178_ChIP-ChIP_JURKAT_Human2.58067111
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.54650214
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.49047752
13EZH2_22144423_ChIP-Seq_EOC_Human2.46433708
14VDR_23849224_ChIP-Seq_CD4+_Human2.40043098
15MYC_18555785_ChIP-Seq_MESCs_Mouse2.40008031
16IRF1_19129219_ChIP-ChIP_H3396_Human2.34790418
17NOTCH1_21737748_ChIP-Seq_TLL_Human2.21378654
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.21093560
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.18772869
20DCP1A_22483619_ChIP-Seq_HELA_Human2.16776109
21ZNF274_21170338_ChIP-Seq_K562_Hela2.16645233
22FOXP3_21729870_ChIP-Seq_TREG_Human2.10920044
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.10705874
24PCGF2_27294783_Chip-Seq_ESCs_Mouse2.04734747
25EWS_26573619_Chip-Seq_HEK293_Human2.00146828
26CREB1_15753290_ChIP-ChIP_HEK293T_Human1.96079618
27GBX2_23144817_ChIP-Seq_PC3_Human1.95213432
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90969888
29ELK1_19687146_ChIP-ChIP_HELA_Human1.88483680
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.85671434
31FUS_26573619_Chip-Seq_HEK293_Human1.83874851
32MYC_18358816_ChIP-ChIP_MESCs_Mouse1.74609588
33EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.68321621
34MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.64888000
35PCGF2_27294783_Chip-Seq_NPCs_Mouse1.62427421
36MYC_19030024_ChIP-ChIP_MESCs_Mouse1.61646521
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59408811
38CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.58951179
39TP53_22573176_ChIP-Seq_HFKS_Human1.56729671
40FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.56496117
41RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55959147
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.52807153
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.51842189
44MYC_18940864_ChIP-ChIP_HL60_Human1.44250408
45PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.42835258
46GABP_19822575_ChIP-Seq_HepG2_Human1.35027975
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.28626489
48NFE2_27457419_Chip-Seq_LIVER_Mouse1.28339130
49TTF2_22483619_ChIP-Seq_HELA_Human1.28059685
50EZH2_27294783_Chip-Seq_NPCs_Mouse1.25360386
51CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25282214
52TAF15_26573619_Chip-Seq_HEK293_Human1.25074315
53LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24319401
54E2F7_22180533_ChIP-Seq_HELA_Human1.23832765
55NANOG_19829295_ChIP-Seq_ESCs_Human1.23281202
56SOX2_19829295_ChIP-Seq_ESCs_Human1.23281202
57CTBP2_25329375_ChIP-Seq_LNCAP_Human1.23142564
58PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.22944512
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22353683
60SUZ12_27294783_Chip-Seq_NPCs_Mouse1.22165989
61PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.22095017
62P300_19829295_ChIP-Seq_ESCs_Human1.20075604
63TDRD3_21172665_ChIP-Seq_MCF-7_Human1.19025781
64CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.18586445
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.14667914
66ETV2_25802403_ChIP-Seq_MESCs_Mouse1.14520734
67YY1_21170310_ChIP-Seq_MESCs_Mouse1.12312528
68ELK1_22589737_ChIP-Seq_MCF10A_Human1.10811601
69AUTS2_25519132_ChIP-Seq_293T-REX_Human1.10776475
70HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09021802
71CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.07395803
72EGR1_23403033_ChIP-Seq_LIVER_Mouse1.06788363
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04535071
74CBP_20019798_ChIP-Seq_JUKART_Human1.04535071
75NANOG_20526341_ChIP-Seq_ESCs_Human1.02588687
76XRN2_22483619_ChIP-Seq_HELA_Human1.02104948
77FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01826086
78FOXA1_25329375_ChIP-Seq_VCAP_Human1.01826086
79E2F1_18555785_ChIP-Seq_MESCs_Mouse1.00531020
80NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.00495383
81GATA3_21878914_ChIP-Seq_MCF-7_Human0.98958199
82RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.97522533
83ER_23166858_ChIP-Seq_MCF-7_Human0.97109016
84YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96844396
85RBPJ_22232070_ChIP-Seq_NCS_Mouse0.92289080
86HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89793994
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.89533208
88CRX_20693478_ChIP-Seq_RETINA_Mouse0.88230904
89MYC_19079543_ChIP-ChIP_MESCs_Mouse0.87332037
90AR_20517297_ChIP-Seq_VCAP_Human0.87287900
91PADI4_21655091_ChIP-ChIP_MCF-7_Human0.85852812
92PHF8_20622853_ChIP-Seq_HELA_Human0.85587056
93POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.84963893
94NELFA_20434984_ChIP-Seq_ESCs_Mouse0.84310113
95P53_21459846_ChIP-Seq_SAOS-2_Human0.83939034
96RNF2_27304074_Chip-Seq_NSC_Mouse0.83772405
97RBPJ_21746931_ChIP-Seq_IB4_Human0.83716189
98FOXA1_21572438_ChIP-Seq_LNCaP_Human0.83655110
99UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.83599178
100E2F1_21310950_ChIP-Seq_MCF-7_Human0.83522375

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.67541837
2MP0000372_irregular_coat_pigmentation3.43081085
3MP0002138_abnormal_hepatobiliary_system3.12793660
4MP0002837_dystrophic_cardiac_calcinosis2.98221269
5MP0006292_abnormal_olfactory_placode2.85485962
6MP0008058_abnormal_DNA_repair2.62138821
7MP0004145_abnormal_muscle_electrophysio2.49156211
8MP0006276_abnormal_autonomic_nervous2.48218650
9MP0002638_abnormal_pupillary_reflex2.47724022
10MP0004142_abnormal_muscle_tone2.37496518
11MP0006036_abnormal_mitochondrial_physio2.35263288
12MP0001986_abnormal_taste_sensitivity2.12833947
13MP0002277_abnormal_respiratory_mucosa2.06017787
14MP0003646_muscle_fatigue2.03923792
15MP0004215_abnormal_myocardial_fiber2.03373262
16MP0003136_yellow_coat_color1.86121773
17MP0005084_abnormal_gallbladder_morpholo1.83798393
18MP0004147_increased_porphyrin_level1.83165092
19MP0002163_abnormal_gland_morphology1.81420481
20MP0003137_abnormal_impulse_conducting1.80672616
21MP0003123_paternal_imprinting1.79782958
22MP0005377_hearing/vestibular/ear_phenot1.78252201
23MP0003878_abnormal_ear_physiology1.78252201
24MP0008775_abnormal_heart_ventricle1.77706772
25MP0002102_abnormal_ear_morphology1.73346332
26MP0003718_maternal_effect1.72942878
27MP0005646_abnormal_pituitary_gland1.67063219
28MP0003693_abnormal_embryo_hatching1.63307077
29MP0009046_muscle_twitch1.62986033
30MP0002160_abnormal_reproductive_system1.62928317
31MP0003950_abnormal_plasma_membrane1.61966930
32MP0003186_abnormal_redox_activity1.61887661
33MP0001879_abnormal_lymphatic_vessel1.53922139
34MP0005551_abnormal_eye_electrophysiolog1.52604006
35MP0003195_calcinosis1.49363557
36MP0005423_abnormal_somatic_nervous1.46160291
37MP0002736_abnormal_nociception_after1.44925107
38MP0009379_abnormal_foot_pigmentation1.44778106
39MP0003567_abnormal_fetal_cardiomyocyte1.41784499
40MP0004885_abnormal_endolymph1.41732398
41MP0010094_abnormal_chromosome_stability1.39384201
42MP0005671_abnormal_response_to1.39313565
43MP0001485_abnormal_pinna_reflex1.38904575
44MP0001440_abnormal_grooming_behavior1.30789039
45MP0010368_abnormal_lymphatic_system1.30096906
46MP0005389_reproductive_system_phenotype1.24951100
47MP0001542_abnormal_bone_strength1.24732431
48MP0003252_abnormal_bile_duct1.21473195
49MP0002928_abnormal_bile_duct1.20185121
50MP0005332_abnormal_amino_acid1.20044960
51MP0008872_abnormal_physiological_respon1.19284229
52MP0009697_abnormal_copulation1.17430373
53MP0001486_abnormal_startle_reflex1.17218287
54MP0005075_abnormal_melanosome_morpholog1.15866818
55MP0001188_hyperpigmentation1.14236348
56MP0002272_abnormal_nervous_system1.12600676
57MP0003121_genomic_imprinting1.06830692
58MP0000230_abnormal_systemic_arterial1.05061852
59MP0004381_abnormal_hair_follicle1.03462257
60MP0001324_abnormal_eye_pigmentation1.02579154
61MP0004957_abnormal_blastocyst_morpholog1.02372524
62MP0000049_abnormal_middle_ear1.01240124
63MP0006035_abnormal_mitochondrial_morpho0.99054197
64MP0005385_cardiovascular_system_phenoty0.97086242
65MP0001544_abnormal_cardiovascular_syste0.97086242
66MP0001270_distended_abdomen0.96477698
67MP0005195_abnormal_posterior_eye0.92441221
68MP0005379_endocrine/exocrine_gland_phen0.87251846
69MP0002095_abnormal_skin_pigmentation0.85876169
70MP0001968_abnormal_touch/_nociception0.85581311
71MP0004084_abnormal_cardiac_muscle0.84220110
72MP0001293_anophthalmia0.83084958
73MP0008057_abnormal_DNA_replication0.83023333
74MP0002557_abnormal_social/conspecific_i0.82713087
75MP0002210_abnormal_sex_determination0.82363175
76MP0008875_abnormal_xenobiotic_pharmacok0.82254796
77MP0001905_abnormal_dopamine_level0.81676582
78MP0002938_white_spotting0.81514884
79MP0004085_abnormal_heartbeat0.81455330
80MP0001919_abnormal_reproductive_system0.81055371
81MP0002876_abnormal_thyroid_physiology0.78315363
82MP0005410_abnormal_fertilization0.76398381
83MP0005085_abnormal_gallbladder_physiolo0.75418480
84MP0005330_cardiomyopathy0.74777171
85MP0008004_abnormal_stomach_pH0.74281889
86MP0002229_neurodegeneration0.74023290
87MP0001929_abnormal_gametogenesis0.72445085
88MP0000653_abnormal_sex_gland0.72031749
89MP0000371_diluted_coat_color0.71213708
90MP0000015_abnormal_ear_pigmentation0.70382998
91MP0003880_abnormal_central_pattern0.70236758
92MP0002067_abnormal_sensory_capabilities0.70217425
93MP0006072_abnormal_retinal_apoptosis0.70204884
94MP0002132_abnormal_respiratory_system0.69233308
95MP0002752_abnormal_somatic_nervous0.66564339
96MP0001963_abnormal_hearing_physiology0.65492709
97MP0009745_abnormal_behavioral_response0.63678469
98MP0001529_abnormal_vocalization0.62435516
99MP0002184_abnormal_innervation0.61293714
100MP0009765_abnormal_xenobiotic_induced0.58992923

Predicted human phenotypes

RankGene SetZ-score
1Tongue fasciculations (HP:0001308)5.06305785
2Acute encephalopathy (HP:0006846)4.67831793
3Acute necrotizing encephalopathy (HP:0006965)4.39227571
4Muscle fibrillation (HP:0010546)4.32418605
5Abnormal mitochondria in muscle tissue (HP:0008316)4.14061654
6Metaphyseal dysplasia (HP:0100255)4.07565783
7Mitochondrial inheritance (HP:0001427)3.79688435
8Tubular atrophy (HP:0000092)3.60813047
9Progressive macrocephaly (HP:0004481)3.60262416
10Reticulocytopenia (HP:0001896)3.52070555
11Abnormal drinking behavior (HP:0030082)3.51426036
12Polydipsia (HP:0001959)3.51426036
13Increased CSF lactate (HP:0002490)3.40566112
14Molar tooth sign on MRI (HP:0002419)3.30098324
15Abnormality of midbrain morphology (HP:0002418)3.30098324
16Cerebral edema (HP:0002181)3.17758867
17Lipid accumulation in hepatocytes (HP:0006561)3.17165445
18Hepatocellular necrosis (HP:0001404)3.15123560
19Abnormality of the renal cortex (HP:0011035)3.14589470
20Nephronophthisis (HP:0000090)3.11049686
21Congenital stationary night blindness (HP:0007642)3.05659515
22Increased hepatocellular lipid droplets (HP:0006565)3.05469380
23Hepatic necrosis (HP:0002605)3.04229568
24Abnormality of the labia minora (HP:0012880)2.95435236
25Medial flaring of the eyebrow (HP:0010747)2.73382913
26Abnormality of the renal medulla (HP:0100957)2.65366716
27Abnormal tarsal ossification (HP:0008369)2.61787366
28Increased serum lactate (HP:0002151)2.55020392
29Polyuria (HP:0000103)2.52713761
303-Methylglutaconic aciduria (HP:0003535)2.51709054
31Hypoplasia of the uterus (HP:0000013)2.49357213
32Abnormality of lateral ventricle (HP:0030047)2.47740695
33Abnormality of the renal collecting system (HP:0004742)2.44814950
34Abnormality of alanine metabolism (HP:0010916)2.41252844
35Hyperalaninemia (HP:0003348)2.41252844
36Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.41252844
37Duplicated collecting system (HP:0000081)2.36567934
38Respiratory failure (HP:0002878)2.34113106
39Lactic acidosis (HP:0003128)2.33612737
40Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.30876221
41Slow saccadic eye movements (HP:0000514)2.26860828
42Congenital, generalized hypertrichosis (HP:0004540)2.24995554
43Renal Fanconi syndrome (HP:0001994)2.23206673
44Absent thumb (HP:0009777)2.20172478
45Tubulointerstitial fibrosis (HP:0005576)2.18064156
46Hyperglycinuria (HP:0003108)2.16764067
47Leukodystrophy (HP:0002415)2.15998837
48Conical tooth (HP:0000698)2.14442565
49Small epiphyses (HP:0010585)2.12962536
50Hyperglycinemia (HP:0002154)2.12536195
51Hyperphosphaturia (HP:0003109)2.11032084
52Aplasia/hypoplasia of the uterus (HP:0008684)2.08562467
53Abnormal urine output (HP:0012590)2.08099649
54Aplasia/Hypoplasia of the fovea (HP:0008060)2.07328938
55Hypoplasia of the fovea (HP:0007750)2.07328938
56Lymphangioma (HP:0100764)2.05813737
57Supernumerary spleens (HP:0009799)2.04113774
58Multiple enchondromatosis (HP:0005701)2.02924089
59Short tibia (HP:0005736)2.01276334
60Lethargy (HP:0001254)2.00156758
61Abnormality of incisor morphology (HP:0011063)1.96800366
62Genetic anticipation (HP:0003743)1.96537846
63Chromosomal breakage induced by crosslinking agents (HP:0003221)1.91692536
64Increased intramyocellular lipid droplets (HP:0012240)1.91439237
65Aplasia/Hypoplasia of the tibia (HP:0005772)1.90738602
66Horseshoe kidney (HP:0000085)1.90442974
67Tubulointerstitial abnormality (HP:0001969)1.88911236
68Abnormality of cells of the erythroid lineage (HP:0012130)1.88415892
69Abnormality of renal excretion (HP:0011036)1.88168896
70Abnormality of serine family amino acid metabolism (HP:0010894)1.86963302
71Abnormality of glycine metabolism (HP:0010895)1.86963302
72Degeneration of anterior horn cells (HP:0002398)1.86524045
73Abnormality of the anterior horn cell (HP:0006802)1.86524045
74Pigmentary retinal degeneration (HP:0001146)1.86169229
75Testicular atrophy (HP:0000029)1.86051724
76Pancreatic cysts (HP:0001737)1.85089138
77Abnormality of magnesium homeostasis (HP:0004921)1.83635264
78Cleft eyelid (HP:0000625)1.83561111
79Generalized aminoaciduria (HP:0002909)1.83554496
80Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83201870
81Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83201870
82X-linked dominant inheritance (HP:0001423)1.81414604
83Congenital hepatic fibrosis (HP:0002612)1.79730533
84Exertional dyspnea (HP:0002875)1.79169893
85Exercise intolerance (HP:0003546)1.78861872
86Increased serum pyruvate (HP:0003542)1.77468563
87Impaired smooth pursuit (HP:0007772)1.76861995
88Hypothermia (HP:0002045)1.76266791
89Hypomagnesemia (HP:0002917)1.74228689
90Abnormal urine phosphate concentration (HP:0012599)1.73673440
91Optic disc pallor (HP:0000543)1.73120514
92Increased muscle lipid content (HP:0009058)1.72750876
93Abnormal rod and cone electroretinograms (HP:0008323)1.72658562
94Delayed epiphyseal ossification (HP:0002663)1.70883281
95Metaphyseal cupping (HP:0003021)1.68648468
96Renal cortical cysts (HP:0000803)1.67757936
97Palpitations (HP:0001962)1.67284984
98Porencephaly (HP:0002132)1.67176518
99Abnormal ciliary motility (HP:0012262)1.66975962
100Aplasia/Hypoplasia of the uvula (HP:0010293)1.64929182

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM284.46762712
2EIF2AK34.01942395
3TAOK33.60138469
4STK393.24548336
5WNK42.87171013
6MST42.85752572
7BLK2.74884765
8EIF2AK12.69377154
9MKNK22.61698670
10NUAK12.58998985
11TIE12.19152583
12BUB12.16482761
13MKNK11.96063297
14PTK2B1.92545701
15PINK11.92444078
16STK161.81602566
17ACVR1B1.81429924
18FRK1.79092182
19OXSR11.72825536
20NEK11.55802693
21BCKDK1.52516847
22PDK21.49453559
23STK241.41556255
24TSSK61.37586436
25CDC71.36218263
26MATK1.28893284
27WNK31.26583274
28MYLK1.23153354
29ZAK1.22005608
30STK38L1.21901748
31MAPKAPK31.18704209
32PLK41.14118055
33WEE11.13624693
34GRK11.11568293
35DAPK11.03190057
36VRK20.99704042
37ERBB30.98660972
38MAP3K120.97562957
39ILK0.92287299
40LMTK20.91712498
41ABL20.89676495
42IKBKB0.89496184
43ADRBK20.89019419
44DMPK0.83873472
45EIF2AK20.82582995
46NME10.79532868
47NTRK10.75182861
48PLK30.73388388
49DAPK20.67559373
50BMPR1B0.67349627
51BCR0.66753869
52PHKG20.65875478
53PHKG10.65875478
54STK30.63944092
55TEC0.61305700
56CDK80.57363860
57TXK0.56859822
58CAMK2D0.56630088
59OBSCN0.56134677
60RPS6KA50.55380038
61DYRK20.54988236
62ATR0.54039068
63VRK10.53643780
64GRK50.51585758
65ERBB20.50073308
66PLK20.49737772
67FES0.49682947
68TLK10.49541323
69MAP3K140.47940210
70ARAF0.47388868
71CSNK2A20.47207066
72PRKCQ0.46887202
73PASK0.46480595
74PLK10.45944678
75INSRR0.45369429
76CSNK2A10.45293039
77MAP2K30.44430576
78DAPK30.44276293
79ITK0.42697822
80MAP4K20.42269569
81PAK30.41942826
82PRKACA0.41601260
83LATS10.41415926
84WNK10.41101152
85CAMK2A0.39331160
86MAP3K110.38842502
87MARK30.38410619
88AURKB0.37152278
89ALK0.36799051
90BMPR20.36135116
91SYK0.34739356
92CASK0.34314352
93TRPM70.33929216
94TAOK10.33919264
95IKBKE0.33091942
96ADRBK10.31229084
97MAPKAPK50.30804191
98IGF1R0.30029706
99KIT0.29637393
100MAP2K70.28119899

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.64840320
2Proteasome_Homo sapiens_hsa030503.49053399
3Ribosome_Homo sapiens_hsa030103.44702510
4Protein export_Homo sapiens_hsa030603.18617483
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.15947709
6Parkinsons disease_Homo sapiens_hsa050123.05511128
7Mismatch repair_Homo sapiens_hsa034302.41240776
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.39960642
9Sulfur metabolism_Homo sapiens_hsa009202.22519296
10Cardiac muscle contraction_Homo sapiens_hsa042602.20699281
11One carbon pool by folate_Homo sapiens_hsa006702.18900986
12Alzheimers disease_Homo sapiens_hsa050102.04945893
13Homologous recombination_Homo sapiens_hsa034402.02058220
14Propanoate metabolism_Homo sapiens_hsa006402.00829673
15Linoleic acid metabolism_Homo sapiens_hsa005912.00676468
16alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.99654220
17Huntingtons disease_Homo sapiens_hsa050161.95721150
18RNA degradation_Homo sapiens_hsa030181.94040075
19DNA replication_Homo sapiens_hsa030301.88146372
20RNA polymerase_Homo sapiens_hsa030201.85189141
21Spliceosome_Homo sapiens_hsa030401.69549182
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.66510377
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.64884605
24Fanconi anemia pathway_Homo sapiens_hsa034601.56430202
25Basal transcription factors_Homo sapiens_hsa030221.52355106
26Regulation of autophagy_Homo sapiens_hsa041401.50244572
27RNA transport_Homo sapiens_hsa030131.42919990
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.40680634
29Pyrimidine metabolism_Homo sapiens_hsa002401.37475854
30Folate biosynthesis_Homo sapiens_hsa007901.29501297
31Non-homologous end-joining_Homo sapiens_hsa034501.28023620
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.25652010
33Caffeine metabolism_Homo sapiens_hsa002321.22869333
34Nucleotide excision repair_Homo sapiens_hsa034201.20931369
35Sulfur relay system_Homo sapiens_hsa041221.20542763
36Purine metabolism_Homo sapiens_hsa002301.16564754
37Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.12900570
38Tryptophan metabolism_Homo sapiens_hsa003801.12489345
39Asthma_Homo sapiens_hsa053101.07683485
40Olfactory transduction_Homo sapiens_hsa047400.98885606
41Primary bile acid biosynthesis_Homo sapiens_hsa001200.97679140
42Base excision repair_Homo sapiens_hsa034100.96864124
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.95839228
44Nitrogen metabolism_Homo sapiens_hsa009100.94927824
45Chemical carcinogenesis_Homo sapiens_hsa052040.94519364
46Cysteine and methionine metabolism_Homo sapiens_hsa002700.93392274
47Arachidonic acid metabolism_Homo sapiens_hsa005900.91874034
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.91035444
49Intestinal immune network for IgA production_Homo sapiens_hsa046720.89013166
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.88862472
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.85530859
52Drug metabolism - other enzymes_Homo sapiens_hsa009830.83569915
53Ether lipid metabolism_Homo sapiens_hsa005650.79069209
54Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78250623
55Fatty acid degradation_Homo sapiens_hsa000710.75643595
56beta-Alanine metabolism_Homo sapiens_hsa004100.73333839
57Selenocompound metabolism_Homo sapiens_hsa004500.72150267
58Metabolic pathways_Homo sapiens_hsa011000.71417669
59Primary immunodeficiency_Homo sapiens_hsa053400.71289268
60Glutathione metabolism_Homo sapiens_hsa004800.70540334
61Fatty acid metabolism_Homo sapiens_hsa012120.66838441
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63779440
63Allograft rejection_Homo sapiens_hsa053300.63144959
64Fat digestion and absorption_Homo sapiens_hsa049750.62544116
65Tyrosine metabolism_Homo sapiens_hsa003500.60500724
66Steroid hormone biosynthesis_Homo sapiens_hsa001400.59663759
67Autoimmune thyroid disease_Homo sapiens_hsa053200.59564013
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.58950615
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.56411792
70Nicotine addiction_Homo sapiens_hsa050330.56153073
71Retinol metabolism_Homo sapiens_hsa008300.54586492
72Phototransduction_Homo sapiens_hsa047440.53285479
73Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.52448291
742-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.51655100
75Collecting duct acid secretion_Homo sapiens_hsa049660.50809933
76Type I diabetes mellitus_Homo sapiens_hsa049400.50479507
77Graft-versus-host disease_Homo sapiens_hsa053320.50048208
78Cyanoamino acid metabolism_Homo sapiens_hsa004600.49598668
79Peroxisome_Homo sapiens_hsa041460.46931112
80N-Glycan biosynthesis_Homo sapiens_hsa005100.45644984
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.44376158
82Steroid biosynthesis_Homo sapiens_hsa001000.42996993
83Dilated cardiomyopathy_Homo sapiens_hsa054140.33226752
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31866126
85Mineral absorption_Homo sapiens_hsa049780.31447194
86Pentose and glucuronate interconversions_Homo sapiens_hsa000400.30742212
87Pancreatic secretion_Homo sapiens_hsa049720.29762559
88Systemic lupus erythematosus_Homo sapiens_hsa053220.29502542
89Arginine and proline metabolism_Homo sapiens_hsa003300.29036284
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.28135119
91Taste transduction_Homo sapiens_hsa047420.27981997
92Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.26999112
93Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.26199959
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25677810
95Fatty acid biosynthesis_Homo sapiens_hsa000610.25623014
96Pyruvate metabolism_Homo sapiens_hsa006200.24979160
97Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.23072529
98Morphine addiction_Homo sapiens_hsa050320.23044191
99mRNA surveillance pathway_Homo sapiens_hsa030150.22796790
100Glycerolipid metabolism_Homo sapiens_hsa005610.22686749

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