EIF3EP1

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
1DNA deamination (GO:0045006)6.12380697
2proteasome assembly (GO:0043248)4.65215640
3RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)4.05407725
4negative regulation of retinoic acid receptor signaling pathway (GO:0048387)4.01713225
5cullin deneddylation (GO:0010388)4.00340745
6regulation of retinoic acid receptor signaling pathway (GO:0048385)3.86754259
7piRNA metabolic process (GO:0034587)3.84898864
8exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.81338198
9maturation of 5.8S rRNA (GO:0000460)3.77634829
10protein deneddylation (GO:0000338)3.74518098
11platelet dense granule organization (GO:0060155)3.71025671
12nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.69859790
13regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.59990357
14cytidine deamination (GO:0009972)3.53791391
15cytidine metabolic process (GO:0046087)3.53791391
16cytidine catabolic process (GO:0006216)3.53791391
17positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.52288188
18negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.48022702
19positive regulation of protein homodimerization activity (GO:0090073)3.40908655
20rRNA modification (GO:0000154)3.40179228
21formation of translation preinitiation complex (GO:0001731)3.36805452
22regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.34703663
23synapsis (GO:0007129)3.34455539
24skeletal muscle tissue regeneration (GO:0043403)3.29011374
25response to gravity (GO:0009629)3.24093325
26positive regulation of histone H3-K4 methylation (GO:0051571)3.19008666
27transcription elongation from RNA polymerase I promoter (GO:0006362)3.17696499
28DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.12513276
29negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.12486848
30negative regulation of ligase activity (GO:0051352)3.12486848
31DNA double-strand break processing (GO:0000729)3.10402894
32negative regulation of thymocyte apoptotic process (GO:0070244)3.09856091
33anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.09686924
34termination of RNA polymerase I transcription (GO:0006363)3.08522638
35signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.07568690
36signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.07568690
37signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.07568690
38ribosomal small subunit assembly (GO:0000028)3.07045483
39tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.06656945
40RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.06656945
41regulation of cellular amino acid metabolic process (GO:0006521)3.04890356
42signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.03974982
43intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.03974982
44protein neddylation (GO:0045116)3.03328403
45male meiosis (GO:0007140)3.02310053
46negative regulation of DNA-dependent DNA replication (GO:2000104)2.94060469
47lactate metabolic process (GO:0006089)2.93646383
48pyrimidine ribonucleoside catabolic process (GO:0046133)2.92283472
49signal transduction involved in DNA integrity checkpoint (GO:0072401)2.89789222
50signal transduction involved in DNA damage checkpoint (GO:0072422)2.89789222
51positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.89727919
52signal transduction involved in cell cycle checkpoint (GO:0072395)2.89697728
53serotonin receptor signaling pathway (GO:0007210)2.88314501
54CENP-A containing nucleosome assembly (GO:0034080)2.86954606
55chromatin remodeling at centromere (GO:0031055)2.82582914
56protein complex biogenesis (GO:0070271)2.82044701
57regulation of centriole replication (GO:0046599)2.81992181
58DNA methylation involved in gamete generation (GO:0043046)2.81771725
59rRNA methylation (GO:0031167)2.80205719
60histone exchange (GO:0043486)2.77400353
61aggressive behavior (GO:0002118)2.75977929
62transcription elongation from RNA polymerase III promoter (GO:0006385)2.75736623
63termination of RNA polymerase III transcription (GO:0006386)2.75736623
64regulation of DNA endoreduplication (GO:0032875)2.75620764
65neural tube formation (GO:0001841)2.75212157
66regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.74581532
67male meiosis I (GO:0007141)2.72211723
68positive regulation of ligase activity (GO:0051351)2.71832293
69organelle disassembly (GO:1903008)2.68904356
70ribosomal large subunit biogenesis (GO:0042273)2.68287170
71chaperone-mediated protein transport (GO:0072321)2.68093003
72mitochondrial respiratory chain complex assembly (GO:0033108)2.66610269
73rRNA processing (GO:0006364)2.66187132
74establishment of protein localization to mitochondrial membrane (GO:0090151)2.64983710
75pseudouridine synthesis (GO:0001522)2.64536176
76RNA phosphodiester bond hydrolysis (GO:0090501)2.63393215
77indole-containing compound catabolic process (GO:0042436)2.63096716
78indolalkylamine catabolic process (GO:0046218)2.63096716
79tryptophan catabolic process (GO:0006569)2.63096716
80DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.62718251
81response to pheromone (GO:0019236)2.61197426
82keratinocyte development (GO:0003334)2.61181858
83regulation of nuclear cell cycle DNA replication (GO:0033262)2.60689282
84respiratory chain complex IV assembly (GO:0008535)2.60189889
85reciprocal meiotic recombination (GO:0007131)2.59909610
86reciprocal DNA recombination (GO:0035825)2.59909610
87protein K6-linked ubiquitination (GO:0085020)2.59674784
88rRNA metabolic process (GO:0016072)2.59213636
89regulation of meiosis I (GO:0060631)2.58297833
90tryptophan metabolic process (GO:0006568)2.57015344
91DNA replication-dependent nucleosome organization (GO:0034723)2.55940468
92DNA replication-dependent nucleosome assembly (GO:0006335)2.55940468
93nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)2.55902506
94ribonucleoprotein complex disassembly (GO:0032988)2.55265840
95maturation of SSU-rRNA (GO:0030490)2.55117255
96kynurenine metabolic process (GO:0070189)2.54693706
97DNA damage response, detection of DNA damage (GO:0042769)2.54653321
98transcription initiation from RNA polymerase I promoter (GO:0006361)2.54410030
99water-soluble vitamin biosynthetic process (GO:0042364)2.53916811
100chromosome organization involved in meiosis (GO:0070192)2.52999866

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human3.88325817
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.80644257
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.36842328
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.27656897
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.07441771
6ELF1_17652178_ChIP-ChIP_JURKAT_Human2.78439101
7IGF1R_20145208_ChIP-Seq_DFB_Human2.57473198
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.56262356
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.48148164
10FUS_26573619_Chip-Seq_HEK293_Human2.42973405
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.41655984
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.38882574
13VDR_23849224_ChIP-Seq_CD4+_Human2.38733670
14ZNF274_21170338_ChIP-Seq_K562_Hela2.36923732
15TAF15_26573619_Chip-Seq_HEK293_Human2.35172860
16ELK1_19687146_ChIP-ChIP_HELA_Human2.33046217
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.31303919
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.22706700
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.17989659
20MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.17319761
21EWS_26573619_Chip-Seq_HEK293_Human2.15235935
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.13830103
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.04271243
24EZH2_22144423_ChIP-Seq_EOC_Human1.98885637
25JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.97394328
26CREB1_15753290_ChIP-ChIP_HEK293T_Human1.90966218
27FOXP3_21729870_ChIP-Seq_TREG_Human1.90171400
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89240959
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.87600332
30PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81012800
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.66984157
32CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.65940730
33P300_19829295_ChIP-Seq_ESCs_Human1.65401926
34PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.65305298
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62006388
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58826708
37MYC_18555785_ChIP-Seq_MESCs_Mouse1.57818141
38FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.56016608
39FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.55869663
40MYC_18940864_ChIP-ChIP_HL60_Human1.54996533
41EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.51885380
42SALL1_21062744_ChIP-ChIP_HESCs_Human1.48925030
43CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.47803437
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46745041
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.45203195
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41438420
47E2F7_22180533_ChIP-Seq_HELA_Human1.39958728
48SRF_21415370_ChIP-Seq_HL-1_Mouse1.37631766
49RBPJ_22232070_ChIP-Seq_NCS_Mouse1.37539612
50ER_23166858_ChIP-Seq_MCF-7_Human1.36116258
51PCGF2_27294783_Chip-Seq_NPCs_Mouse1.33660858
52POU5F1_16153702_ChIP-ChIP_HESCs_Human1.33264236
53UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.31748508
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30180651
55TP53_22573176_ChIP-Seq_HFKS_Human1.27472968
56YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25574241
57IRF1_19129219_ChIP-ChIP_H3396_Human1.23506888
58KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.23399470
59E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.22929850
60MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.21645555
61TP63_19390658_ChIP-ChIP_HaCaT_Human1.21317098
62DCP1A_22483619_ChIP-Seq_HELA_Human1.20898892
63CBP_20019798_ChIP-Seq_JUKART_Human1.18314529
64IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18314529
65IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.18284616
66AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17717290
67CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.15145280
68GBX2_23144817_ChIP-Seq_PC3_Human1.14640686
69NANOG_19829295_ChIP-Seq_ESCs_Human1.14210964
70SOX2_19829295_ChIP-Seq_ESCs_Human1.14210964
71HOXB4_20404135_ChIP-ChIP_EML_Mouse1.13829221
72NFE2_27457419_Chip-Seq_LIVER_Mouse1.12182943
73SMAD4_21799915_ChIP-Seq_A2780_Human1.09850939
74RNF2_27304074_Chip-Seq_NSC_Mouse1.08978775
75SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08815691
76GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08102192
77MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.06480768
78AR_20517297_ChIP-Seq_VCAP_Human1.06131663
79POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.05441367
80YY1_21170310_ChIP-Seq_MESCs_Mouse1.05214435
81AUTS2_25519132_ChIP-Seq_293T-REX_Human1.04549443
82EZH2_27294783_Chip-Seq_NPCs_Mouse1.04267761
83KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02486686
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.01112176
85MYC_18358816_ChIP-ChIP_MESCs_Mouse1.01034734
86GABP_19822575_ChIP-Seq_HepG2_Human1.00197584
87RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.99506456
88STAT3_23295773_ChIP-Seq_U87_Human0.98017124
89PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.96115468
90TCF4_22108803_ChIP-Seq_LS180_Human0.95095090
91TTF2_22483619_ChIP-Seq_HELA_Human0.94969985
92HTT_18923047_ChIP-ChIP_STHdh_Human0.94734818
93PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.94591628
94MYC_19030024_ChIP-ChIP_MESCs_Mouse0.94573871
95SMAD3_21741376_ChIP-Seq_EPCs_Human0.92923063
96NANOG_18555785_Chip-Seq_ESCs_Mouse0.92012645
97FOXA1_21572438_ChIP-Seq_LNCaP_Human0.91022316
98AR_25329375_ChIP-Seq_VCAP_Human0.90129972
99EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.89217294
100GATA3_26560356_Chip-Seq_TH2_Human0.88906506

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair3.53738511
2MP0008057_abnormal_DNA_replication2.73293569
3MP0002102_abnormal_ear_morphology2.70177306
4MP0000372_irregular_coat_pigmentation2.66983171
5MP0008995_early_reproductive_senescence2.59307157
6MP0003786_premature_aging2.53745030
7MP0010094_abnormal_chromosome_stability2.52466835
8MP0006072_abnormal_retinal_apoptosis2.52168521
9MP0006292_abnormal_olfactory_placode2.48030629
10MP0008877_abnormal_DNA_methylation2.42099625
11MP0004147_increased_porphyrin_level2.41121885
12MP0003693_abnormal_embryo_hatching2.36250611
13MP0002138_abnormal_hepatobiliary_system2.27996813
14MP0008789_abnormal_olfactory_epithelium2.23413629
15MP0000427_abnormal_hair_cycle2.04636521
16MP0003567_abnormal_fetal_cardiomyocyte1.89829115
17MP0005075_abnormal_melanosome_morpholog1.87089025
18MP0006036_abnormal_mitochondrial_physio1.78006894
19MP0002095_abnormal_skin_pigmentation1.64882275
20MP0005253_abnormal_eye_physiology1.64404213
21MP0001529_abnormal_vocalization1.61023200
22MP0009697_abnormal_copulation1.55147644
23MP0003950_abnormal_plasma_membrane1.54276853
24MP0005084_abnormal_gallbladder_morpholo1.53359597
25MP0001986_abnormal_taste_sensitivity1.52494584
26MP0006035_abnormal_mitochondrial_morpho1.48899502
27MP0005551_abnormal_eye_electrophysiolog1.48470068
28MP0002736_abnormal_nociception_after1.47253013
29MP0006276_abnormal_autonomic_nervous1.46740776
30MP0002006_tumorigenesis1.45144901
31MP0003195_calcinosis1.43888604
32MP0002166_altered_tumor_susceptibility1.41995668
33MP0004043_abnormal_pH_regulation1.39873971
34MP0005646_abnormal_pituitary_gland1.39582807
35MP0003880_abnormal_central_pattern1.39222042
36MP0005394_taste/olfaction_phenotype1.36254703
37MP0005499_abnormal_olfactory_system1.36254703
38MP0002210_abnormal_sex_determination1.31503957
39MP0002233_abnormal_nose_morphology1.30185763
40MP0003718_maternal_effect1.27317576
41MP0001968_abnormal_touch/_nociception1.26280026
42MP0002277_abnormal_respiratory_mucosa1.24958572
43MP0001486_abnormal_startle_reflex1.24244084
44MP0009046_muscle_twitch1.23779099
45MP0003937_abnormal_limbs/digits/tail_de1.20839789
46MP0004145_abnormal_muscle_electrophysio1.20455392
47MP0004957_abnormal_blastocyst_morpholog1.20065524
48MP0001984_abnormal_olfaction1.19378351
49MP0009379_abnormal_foot_pigmentation1.18867901
50MP0001873_stomach_inflammation1.18624428
51MP0003077_abnormal_cell_cycle1.18144697
52MP0002876_abnormal_thyroid_physiology1.17725822
53MP0003111_abnormal_nucleus_morphology1.17339252
54MP0001929_abnormal_gametogenesis1.17094154
55MP0002160_abnormal_reproductive_system1.15748871
56MP0003787_abnormal_imprinting1.15027928
57MP0001835_abnormal_antigen_presentation1.14130480
58MP0001188_hyperpigmentation1.13825812
59MP0005171_absent_coat_pigmentation1.13195772
60MP0004142_abnormal_muscle_tone1.12288178
61MP0001119_abnormal_female_reproductive1.12247944
62MP0000383_abnormal_hair_follicle1.12148821
63MP0000631_abnormal_neuroendocrine_gland1.12121115
64MP0000653_abnormal_sex_gland1.12101074
65MP0001905_abnormal_dopamine_level1.11930338
66MP0002751_abnormal_autonomic_nervous1.11043798
67MP0008872_abnormal_physiological_respon1.08099581
68MP0002928_abnormal_bile_duct1.05258993
69MP0004036_abnormal_muscle_relaxation1.04739296
70MP0003646_muscle_fatigue1.03358490
71MP0008007_abnormal_cellular_replicative1.02968329
72MP0001293_anophthalmia1.01601702
73MP0002396_abnormal_hematopoietic_system1.01212889
74MP0000516_abnormal_urinary_system1.00873564
75MP0005367_renal/urinary_system_phenotyp1.00873564
76MP0005220_abnormal_exocrine_pancreas1.00233072
77MP0008775_abnormal_heart_ventricle0.97938658
78MP0005671_abnormal_response_to0.97363878
79MP0001145_abnormal_male_reproductive0.95883292
80MP0005645_abnormal_hypothalamus_physiol0.95789031
81MP0004215_abnormal_myocardial_fiber0.92362836
82MP0009745_abnormal_behavioral_response0.91100713
83MP0004885_abnormal_endolymph0.90225357
84MP0002272_abnormal_nervous_system0.89074056
85MP0001243_abnormal_dermal_layer0.87883732
86MP0001502_abnormal_circadian_rhythm0.87611322
87MP0003252_abnormal_bile_duct0.87481953
88MP0000749_muscle_degeneration0.85673196
89MP0010678_abnormal_skin_adnexa0.82345368
90MP0008932_abnormal_embryonic_tissue0.82158990
91MP0000647_abnormal_sebaceous_gland0.80479985
92MP0003698_abnormal_male_reproductive0.80003026
93MP0002163_abnormal_gland_morphology0.75860033
94MP0002184_abnormal_innervation0.74740183
95MP0004084_abnormal_cardiac_muscle0.71702118
96MP0005389_reproductive_system_phenotype0.71021722
97MP0009250_abnormal_appendicular_skeleto0.70553349
98MP0002282_abnormal_trachea_morphology0.66387799
99MP0002109_abnormal_limb_morphology0.65265648
100MP0003763_abnormal_thymus_physiology0.64652592

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.44256920
2Molar tooth sign on MRI (HP:0002419)3.15651592
3Abnormality of midbrain morphology (HP:0002418)3.15651592
4Volvulus (HP:0002580)3.06089455
5Pancreatic fibrosis (HP:0100732)2.96400209
6Increased hepatocellular lipid droplets (HP:0006565)2.91596337
7Hypoproteinemia (HP:0003075)2.91202518
8Methylmalonic acidemia (HP:0002912)2.89853491
9Abnormality of the renal medulla (HP:0100957)2.88988265
10Palpebral edema (HP:0100540)2.85368179
11Nephronophthisis (HP:0000090)2.83079363
12Panhypogammaglobulinemia (HP:0003139)2.82937268
13B lymphocytopenia (HP:0010976)2.80460364
14Abnormality of the renal cortex (HP:0011035)2.75175009
15Thyroiditis (HP:0100646)2.73744138
16Increased CSF lactate (HP:0002490)2.73721156
17Abnormality of B cell number (HP:0010975)2.70734150
18Severe combined immunodeficiency (HP:0004430)2.69025989
19Acute necrotizing encephalopathy (HP:0006965)2.67180168
20Mitochondrial inheritance (HP:0001427)2.60108690
21Hypoplastic pelvis (HP:0008839)2.56360222
22True hermaphroditism (HP:0010459)2.54122183
23Metaphyseal dysplasia (HP:0100255)2.50915654
24Progressive macrocephaly (HP:0004481)2.49753668
25Type 2 muscle fiber atrophy (HP:0003554)2.42943410
26Lipid accumulation in hepatocytes (HP:0006561)2.37177654
27Hepatic necrosis (HP:0002605)2.35655900
28Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.35184274
29Abnormal protein N-linked glycosylation (HP:0012347)2.35184274
30Abnormal protein glycosylation (HP:0012346)2.35184274
31Abnormal glycosylation (HP:0012345)2.35184274
32Hypothermia (HP:0002045)2.33346957
33Supernumerary spleens (HP:0009799)2.30973926
34Abnormal finger flexion creases (HP:0006143)2.29378559
35Abnormal biliary tract physiology (HP:0012439)2.27563460
36Bile duct proliferation (HP:0001408)2.27563460
37Fibular aplasia (HP:0002990)2.26779221
38Delayed CNS myelination (HP:0002188)2.26126935
39Abnormality of the phalanges of the 2nd finger (HP:0009541)2.22372078
40Increased serum lactate (HP:0002151)2.21773533
41Gonadotropin excess (HP:0000837)2.20989577
42Abnormal mitochondria in muscle tissue (HP:0008316)2.20553749
43Colon cancer (HP:0003003)2.19032337
44Renal Fanconi syndrome (HP:0001994)2.18645354
45Aplasia/Hypoplasia of the spleen (HP:0010451)2.17442102
46Abnormality of the pons (HP:0007361)2.17168219
47Hepatocellular necrosis (HP:0001404)2.16019896
48Absent phalangeal crease (HP:0006109)2.15934616
49Hypoplastic iliac wings (HP:0002866)2.15721936
50Congenital stationary night blindness (HP:0007642)2.13602731
51Attenuation of retinal blood vessels (HP:0007843)2.13244771
52Asplenia (HP:0001746)2.12542061
53Abolished electroretinogram (ERG) (HP:0000550)2.12429633
543-Methylglutaconic aciduria (HP:0003535)2.12222632
55Combined immunodeficiency (HP:0005387)2.11577489
56Acute encephalopathy (HP:0006846)2.11527174
57Tubulointerstitial nephritis (HP:0001970)2.10649871
58Methylmalonic aciduria (HP:0012120)2.10541698
59Renal cortical cysts (HP:0000803)2.08373006
60Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.08134618
61CNS hypomyelination (HP:0003429)2.03369202
62Abnormality of the phalanges of the 5th finger (HP:0004213)1.99680616
63Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.98949335
64Polydipsia (HP:0001959)1.98492793
65Abnormal drinking behavior (HP:0030082)1.98492793
66Aplasia/hypoplasia of the uterus (HP:0008684)1.98156645
67IgG deficiency (HP:0004315)1.94500236
68Abnormality of the prostate (HP:0008775)1.92406099
69Oligodactyly (hands) (HP:0001180)1.92141770
70Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.89734400
71Disproportionate short-trunk short stature (HP:0003521)1.89414476
72Abnormality of the metopic suture (HP:0005556)1.88216966
73Hypoplasia of the pons (HP:0012110)1.88166554
74Abnormality of the vitamin B12 metabolism (HP:0004341)1.86811035
75Absent rod-and cone-mediated responses on ERG (HP:0007688)1.85189921
76Aplasia/Hypoplasia of the tongue (HP:0010295)1.83874078
77Aplastic anemia (HP:0001915)1.81511092
78Carpal bone hypoplasia (HP:0001498)1.80258775
79Muscle fiber atrophy (HP:0100295)1.78779879
80Chronic hepatic failure (HP:0100626)1.77783528
81Progressive inability to walk (HP:0002505)1.77013658
82Cystic liver disease (HP:0006706)1.76844585
83Adactyly (HP:0009776)1.76720530
84Exertional dyspnea (HP:0002875)1.75225470
85Distal arthrogryposis (HP:0005684)1.74899350
86Prominent metopic ridge (HP:0005487)1.73914040
87Constricted visual fields (HP:0001133)1.73110779
88Dry hair (HP:0011359)1.73044513
89Neonatal respiratory distress (HP:0002643)1.72920719
90Abnormal rod and cone electroretinograms (HP:0008323)1.71601057
91Pendular nystagmus (HP:0012043)1.71370857
92Optic nerve coloboma (HP:0000588)1.70793514
93Inability to walk (HP:0002540)1.69852962
94Eosinophilia (HP:0001880)1.69683060
95Optic disc pallor (HP:0000543)1.69438517
96Congenital hepatic fibrosis (HP:0002612)1.66760888
97Short middle phalanx of the 5th finger (HP:0004220)1.65838385
98Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.65573146
99Type I transferrin isoform profile (HP:0003642)1.61990093
100Abnormality of vitamin B metabolism (HP:0004340)1.61870271

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K24.01184990
2EIF2AK33.31513297
3TAOK33.01989226
4STK162.72667831
5TXK2.48524139
6SRPK12.47123796
7NUAK12.38211925
8FRK2.30812031
9TRIM282.23388539
10VRK22.04118419
11WNK31.96662511
12NEK11.91009336
13PLK41.86426573
14MKNK11.77559056
15TSSK61.75403654
16GRK11.74428467
17TIE11.70306299
18MKNK21.65656493
19ZAK1.62210180
20PLK31.56423321
21CDK81.56057800
22BUB11.53689150
23MST41.52632521
24BCR1.49464676
25BMPR1B1.49389038
26MAP3K41.47891417
27TNIK1.37831324
28SCYL21.34700784
29VRK11.31517054
30PHKG11.29869649
31PHKG21.29869649
32EIF2AK11.28563786
33ADRBK21.28487475
34OXSR11.25297381
35ERBB31.25107788
36RPS6KA41.24637237
37CSNK1G11.19306617
38STK391.18838105
39TLK11.15662710
40CSNK1G21.15401152
41MAPKAPK31.15207573
42MAP2K71.14418595
43CSNK1G31.13666288
44BRSK21.13637775
45PBK1.08220027
46CSNK1A1L1.03341794
47PLK21.03105056
48PASK1.01931927
49WNK40.99421018
50PINK10.98945885
51TEC0.96642243
52CDK190.93665855
53ACVR1B0.92914192
54MAPK130.91843750
55PIK3CG0.91662840
56TGFBR10.91450730
57DAPK10.90539488
58EIF2AK20.89241389
59OBSCN0.83640164
60TAF10.80909179
61SIK30.78188071
62CCNB10.70924767
63CLK10.70556944
64BCKDK0.70358684
65ATR0.67524761
66NEK20.64920384
67JAK30.64615503
68MUSK0.64520547
69CHEK20.62116946
70RPS6KA50.58843240
71PLK10.58670989
72AKT30.58517724
73PRKCE0.57314070
74STK30.55618739
75MINK10.52809928
76ATM0.50549298
77TTK0.48949961
78DYRK20.44309839
79ITK0.43528721
80AURKB0.42442414
81CAMKK20.41682704
82MAP3K140.41669271
83CDC70.41256045
84TRPM70.41081182
85PIK3CA0.40640844
86PAK60.39445494
87FLT30.38374337
88KDR0.36203345
89DYRK30.36049945
90BMPR20.33254243
91CSNK2A10.33096279
92MAP2K60.31105942
93PAK30.30541343
94WNK10.29786049
95CSNK1A10.28425799
96PRKCQ0.28172317
97GRK50.27307906
98KIT0.25907220
99CSNK2A20.25613035
100PRKG10.24568237

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.57156870
2Protein export_Homo sapiens_hsa030603.36112038
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.09202171
4RNA polymerase_Homo sapiens_hsa030202.98161935
5Ribosome_Homo sapiens_hsa030102.66239363
6Homologous recombination_Homo sapiens_hsa034402.42848490
7RNA degradation_Homo sapiens_hsa030182.38609034
8Oxidative phosphorylation_Homo sapiens_hsa001902.33321032
9Basal transcription factors_Homo sapiens_hsa030222.25114749
10RNA transport_Homo sapiens_hsa030132.24281987
11Non-homologous end-joining_Homo sapiens_hsa034502.16412609
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.06246751
13Mismatch repair_Homo sapiens_hsa034302.02812765
14Parkinsons disease_Homo sapiens_hsa050122.02477776
15Asthma_Homo sapiens_hsa053101.99024745
16One carbon pool by folate_Homo sapiens_hsa006701.98679140
17DNA replication_Homo sapiens_hsa030301.98616995
18Fanconi anemia pathway_Homo sapiens_hsa034601.94651958
19Spliceosome_Homo sapiens_hsa030401.86637048
20Nucleotide excision repair_Homo sapiens_hsa034201.82873529
21Propanoate metabolism_Homo sapiens_hsa006401.76505876
22Autoimmune thyroid disease_Homo sapiens_hsa053201.63943267
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.63917198
24Allograft rejection_Homo sapiens_hsa053301.61897682
25Primary immunodeficiency_Homo sapiens_hsa053401.47603325
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.45719022
27Butanoate metabolism_Homo sapiens_hsa006501.41577307
28Regulation of autophagy_Homo sapiens_hsa041401.41536399
29Huntingtons disease_Homo sapiens_hsa050161.38452854
30Type I diabetes mellitus_Homo sapiens_hsa049401.37407621
31Graft-versus-host disease_Homo sapiens_hsa053321.36044851
32Base excision repair_Homo sapiens_hsa034101.32826422
33Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.30661994
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.30302975
35Pyrimidine metabolism_Homo sapiens_hsa002401.25546533
36Purine metabolism_Homo sapiens_hsa002301.23143239
37Phototransduction_Homo sapiens_hsa047441.15292666
38Intestinal immune network for IgA production_Homo sapiens_hsa046721.15207563
39Alzheimers disease_Homo sapiens_hsa050101.15175592
40Selenocompound metabolism_Homo sapiens_hsa004501.06134161
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03594028
42Oocyte meiosis_Homo sapiens_hsa041141.01942459
43Taste transduction_Homo sapiens_hsa047420.99696592
44Cell cycle_Homo sapiens_hsa041100.92702287
45Olfactory transduction_Homo sapiens_hsa047400.92628628
46Cardiac muscle contraction_Homo sapiens_hsa042600.91796784
47Fatty acid elongation_Homo sapiens_hsa000620.90478382
48Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.85417527
49Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.83978618
50mRNA surveillance pathway_Homo sapiens_hsa030150.83672408
51Antigen processing and presentation_Homo sapiens_hsa046120.83407713
52Rheumatoid arthritis_Homo sapiens_hsa053230.80559570
53Salivary secretion_Homo sapiens_hsa049700.79876801
54Nitrogen metabolism_Homo sapiens_hsa009100.77503152
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.76116831
56Tryptophan metabolism_Homo sapiens_hsa003800.74944801
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.73579788
58Collecting duct acid secretion_Homo sapiens_hsa049660.72408009
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.71975786
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66509972
61Linoleic acid metabolism_Homo sapiens_hsa005910.61000511
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.60951385
63Circadian entrainment_Homo sapiens_hsa047130.60705092
64Serotonergic synapse_Homo sapiens_hsa047260.59216342
65Circadian rhythm_Homo sapiens_hsa047100.58654539
66Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.55497957
67Epstein-Barr virus infection_Homo sapiens_hsa051690.55090110
68Peroxisome_Homo sapiens_hsa041460.54800176
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53240334
70Systemic lupus erythematosus_Homo sapiens_hsa053220.53040620
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52582825
72Ether lipid metabolism_Homo sapiens_hsa005650.50201879
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49052711
74Hedgehog signaling pathway_Homo sapiens_hsa043400.48163526
75p53 signaling pathway_Homo sapiens_hsa041150.46509663
76Morphine addiction_Homo sapiens_hsa050320.44893263
77Nicotine addiction_Homo sapiens_hsa050330.44457184
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43989799
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42263905
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38545570
81Herpes simplex infection_Homo sapiens_hsa051680.37848044
82Metabolic pathways_Homo sapiens_hsa011000.33564958
83GABAergic synapse_Homo sapiens_hsa047270.33374828
84Long-term depression_Homo sapiens_hsa047300.33198753
85T cell receptor signaling pathway_Homo sapiens_hsa046600.32575896
86Oxytocin signaling pathway_Homo sapiens_hsa049210.32447851
87Wnt signaling pathway_Homo sapiens_hsa043100.31275535
88Arachidonic acid metabolism_Homo sapiens_hsa005900.31133822
89N-Glycan biosynthesis_Homo sapiens_hsa005100.26024086
90Transcriptional misregulation in cancer_Homo sapiens_hsa052020.25665617
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.24986862
92Glutathione metabolism_Homo sapiens_hsa004800.24976633
93Hematopoietic cell lineage_Homo sapiens_hsa046400.24527160
94Pyruvate metabolism_Homo sapiens_hsa006200.24298787
95Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.24083240
96Measles_Homo sapiens_hsa051620.22874451
97Tight junction_Homo sapiens_hsa045300.22811734
98Viral myocarditis_Homo sapiens_hsa054160.20545720
99Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.19981889
100Alcoholism_Homo sapiens_hsa050340.18125072

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