HSPE1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)6.98234151
2ribosomal small subunit biogenesis (GO:0042274)6.92524278
3translational termination (GO:0006415)6.81206151
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.18198172
5ribosomal small subunit assembly (GO:0000028)6.14048202
6translational elongation (GO:0006414)5.90642776
7maturation of SSU-rRNA (GO:0030490)5.89334775
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.83801440
9cotranslational protein targeting to membrane (GO:0006613)5.79949853
10protein targeting to ER (GO:0045047)5.74919875
11energy coupled proton transport, down electrochemical gradient (GO:0015985)5.71491820
12ATP synthesis coupled proton transport (GO:0015986)5.71491820
13ribosomal large subunit biogenesis (GO:0042273)5.52710475
14establishment of protein localization to endoplasmic reticulum (GO:0072599)5.47852796
15protein localization to endoplasmic reticulum (GO:0070972)5.43016800
16translational initiation (GO:0006413)5.41273855
17cellular protein complex disassembly (GO:0043624)5.34606629
18nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.33722710
19viral life cycle (GO:0019058)5.30202134
20establishment of protein localization to mitochondrial membrane (GO:0090151)4.83498975
21establishment of integrated proviral latency (GO:0075713)4.75752548
22ribonucleoprotein complex biogenesis (GO:0022613)4.68345082
23protein complex disassembly (GO:0043241)4.60879289
24translation (GO:0006412)4.59878847
25proteasome assembly (GO:0043248)4.38657665
26macromolecular complex disassembly (GO:0032984)4.36883697
27mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.26094855
28formation of translation preinitiation complex (GO:0001731)4.19433526
29respiratory electron transport chain (GO:0022904)4.16707657
30DNA deamination (GO:0045006)4.15627612
31electron transport chain (GO:0022900)4.06034197
32rRNA processing (GO:0006364)4.00621878
33nuclear-transcribed mRNA catabolic process (GO:0000956)3.98155484
34cellular component biogenesis (GO:0044085)3.95983931
35DNA strand elongation involved in DNA replication (GO:0006271)3.90730012
36rRNA metabolic process (GO:0016072)3.85758713
37spliceosomal snRNP assembly (GO:0000387)3.85486594
38protein complex biogenesis (GO:0070271)3.83184648
39mitochondrial respiratory chain complex assembly (GO:0033108)3.78654807
40telomere maintenance via semi-conservative replication (GO:0032201)3.76954754
41protein targeting to membrane (GO:0006612)3.76756763
42mRNA catabolic process (GO:0006402)3.75639033
43DNA replication initiation (GO:0006270)3.75487914
44establishment of viral latency (GO:0019043)3.74185677
45DNA unwinding involved in DNA replication (GO:0006268)3.72665040
46histone exchange (GO:0043486)3.70241105
47DNA strand elongation (GO:0022616)3.69211924
48pseudouridine synthesis (GO:0001522)3.67375164
49ribosome assembly (GO:0042255)3.65535999
50spliceosomal complex assembly (GO:0000245)3.65334536
51DNA damage response, detection of DNA damage (GO:0042769)3.64887381
52UTP biosynthetic process (GO:0006228)3.64723435
53GTP biosynthetic process (GO:0006183)3.64687127
54transcription elongation from RNA polymerase III promoter (GO:0006385)3.57769973
55termination of RNA polymerase III transcription (GO:0006386)3.57769973
56RNA catabolic process (GO:0006401)3.56406813
57ribosome biogenesis (GO:0042254)3.54662312
58negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.54275856
59DNA replication-independent nucleosome assembly (GO:0006336)3.52928457
60DNA replication-independent nucleosome organization (GO:0034724)3.52928457
61folic acid-containing compound biosynthetic process (GO:0009396)3.52260051
62chromatin remodeling at centromere (GO:0031055)3.47263301
63rRNA modification (GO:0000154)3.41163632
64CENP-A containing nucleosome assembly (GO:0034080)3.40003352
65nucleobase biosynthetic process (GO:0046112)3.37081885
66regulation of mitochondrial translation (GO:0070129)3.36232268
67inner mitochondrial membrane organization (GO:0007007)3.35733447
68UTP metabolic process (GO:0046051)3.30545720
69positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.30384989
70exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.29431604
71establishment of protein localization to mitochondrion (GO:0072655)3.28211356
72telomere maintenance via recombination (GO:0000722)3.28117372
73negative regulation of ligase activity (GO:0051352)3.27319262
74negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.27319262
75regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.27227803
76regulation of mitotic spindle checkpoint (GO:1903504)3.27227803
77mitochondrial respiratory chain complex I assembly (GO:0032981)3.27173491
78NADH dehydrogenase complex assembly (GO:0010257)3.27173491
79mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.27173491
80anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.24814776
81protein neddylation (GO:0045116)3.24709339
82cullin deneddylation (GO:0010388)3.24566497
83regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.23680166
84nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.23243513
85DNA replication checkpoint (GO:0000076)3.22780885
86regulation of cellular amino acid metabolic process (GO:0006521)3.22615408
87mitotic metaphase plate congression (GO:0007080)3.22166991
88oxidative phosphorylation (GO:0006119)3.19208070
897-methylguanosine mRNA capping (GO:0006370)3.16391039
90DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.16268191
91DNA replication-dependent nucleosome organization (GO:0034723)3.16066122
92DNA replication-dependent nucleosome assembly (GO:0006335)3.16066122
93transcription-coupled nucleotide-excision repair (GO:0006283)3.15525935
94kinetochore organization (GO:0051383)3.15301628
957-methylguanosine RNA capping (GO:0009452)3.12920257
96RNA capping (GO:0036260)3.12920257
97protein targeting to mitochondrion (GO:0006626)3.12503654
98intracellular protein transmembrane import (GO:0044743)3.11848507
99chaperone-mediated protein transport (GO:0072321)3.11017728
100pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.10979108
101signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.10904895
102intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.10904895
103rRNA methylation (GO:0031167)3.10770408
104purine nucleobase biosynthetic process (GO:0009113)3.08183816
105histone mRNA metabolic process (GO:0008334)3.07377584
106transcription elongation from RNA polymerase I promoter (GO:0006362)3.07129083
107protein localization to mitochondrion (GO:0070585)3.06686157
108signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.06223110
109signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.06223110
110signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.06223110
111signal transduction involved in DNA integrity checkpoint (GO:0072401)3.05810423
112signal transduction involved in DNA damage checkpoint (GO:0072422)3.05810423
113ATP biosynthetic process (GO:0006754)3.05725900
114mitotic recombination (GO:0006312)3.05292158
115respiratory chain complex IV assembly (GO:0008535)3.03068573
116protein localization to kinetochore (GO:0034501)3.01895652
117positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.01421913
118maturation of 5.8S rRNA (GO:0000460)3.01063568
119IMP biosynthetic process (GO:0006188)2.97726247
120purine nucleoside triphosphate biosynthetic process (GO:0009145)2.93943663
121purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.91973130
122regulation of helicase activity (GO:0051095)2.91944766

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.08083844
2* MYC_18555785_ChIP-Seq_MESCs_Mouse5.19624816
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.25629801
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.13303574
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.86320555
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.78683148
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.75826412
8MYC_19079543_ChIP-ChIP_MESCs_Mouse3.56478974
9* ETS1_20019798_ChIP-Seq_JURKAT_Human3.42719074
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.37400026
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.29501126
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.29448151
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.18419666
14E2F4_17652178_ChIP-ChIP_JURKAT_Human3.15493332
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.08665898
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.04532796
17XRN2_22483619_ChIP-Seq_HELA_Human2.75548339
18E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.61119023
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.59801119
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.54046784
21* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.53855512
22NELFA_20434984_ChIP-Seq_ESCs_Mouse2.45374408
23DCP1A_22483619_ChIP-Seq_HELA_Human2.42694564
24* VDR_23849224_ChIP-Seq_CD4+_Human2.41515198
25* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.40550548
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.30385470
27* TTF2_22483619_ChIP-Seq_HELA_Human2.20895426
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.10815221
29FOXP3_21729870_ChIP-Seq_TREG_Human2.09850030
30THAP11_20581084_ChIP-Seq_MESCs_Mouse2.09137558
31ELK1_19687146_ChIP-ChIP_HELA_Human2.04363339
32ELF1_17652178_ChIP-ChIP_JURKAT_Human2.01818546
33* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.91730622
34ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.90737478
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.90436568
36GABP_19822575_ChIP-Seq_HepG2_Human1.89210954
37AR_21909140_ChIP-Seq_LNCAP_Human1.87658400
38YY1_21170310_ChIP-Seq_MESCs_Mouse1.80282386
39* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.73945923
40POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.72142641
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.69426231
42NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67672810
43PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.59455494
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.57313529
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53838438
46POU5F1_16153702_ChIP-ChIP_HESCs_Human1.52068796
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51869437
48POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.50395489
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.50332042
50MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.47894224
51EWS_26573619_Chip-Seq_HEK293_Human1.46776184
52E2F1_21310950_ChIP-Seq_MCF-7_Human1.46695853
53NANOG_16153702_ChIP-ChIP_HESCs_Human1.43356072
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42009129
55* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.38972993
56ELK1_22589737_ChIP-Seq_MCF10A_Human1.38362029
57MYC_18940864_ChIP-ChIP_HL60_Human1.37302689
58KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.37214337
59STAT3_1855785_ChIP-Seq_MESCs_Mouse1.36738947
60HOXB4_20404135_ChIP-ChIP_EML_Mouse1.36416193
61PADI4_21655091_ChIP-ChIP_MCF-7_Human1.35900521
62SOX2_16153702_ChIP-ChIP_HESCs_Human1.35214577
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.34924588
64FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.34284643
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.33256906
66* FUS_26573619_Chip-Seq_HEK293_Human1.30196608
67HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.27655604
68VDR_22108803_ChIP-Seq_LS180_Human1.25189709
69KDM5A_27292631_Chip-Seq_BREAST_Human1.23639792
70CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22920816
71SOX2_18555785_ChIP-Seq_MESCs_Mouse1.20301143
72* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.19768685
73NOTCH1_21737748_ChIP-Seq_TLL_Human1.18643522
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.18256503
75ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.18081288
76SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.14251058
77TCF3_18692474_ChIP-Seq_MEFs_Mouse1.13650740
78CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.11927690
79BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.11578550
80KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.10889295
81KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.10889295
82KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.10889295
83CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.10044263
84OCT4_18692474_ChIP-Seq_MEFs_Mouse1.08609094
85* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.07168089
86ERG_20887958_ChIP-Seq_HPC-7_Mouse1.06880364
87ZNF274_21170338_ChIP-Seq_K562_Hela1.06460105
88KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.06322587
89DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.06195808
90CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.04927550
91SOX2_18692474_ChIP-Seq_MEFs_Mouse1.04618795
92CIITA_25753668_ChIP-Seq_RAJI_Human1.03773472
93TP63_19390658_ChIP-ChIP_HaCaT_Human1.01580970
94ESR1_15608294_ChIP-ChIP_MCF-7_Human1.01099845
95SOX17_20123909_ChIP-Seq_XEN_Mouse1.00677628
96SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00101875
97CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.99273818
98IRF1_19129219_ChIP-ChIP_H3396_Human0.97697917
99* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.97273330
100FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.96134843
101* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.93731474
102SALL1_21062744_ChIP-ChIP_HESCs_Human0.93644210
103KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.92942144
104E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.89530239
105* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86465353
106TFEB_21752829_ChIP-Seq_HELA_Human0.84147707
107* FLI1_27457419_Chip-Seq_LIVER_Mouse0.82512814
108NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.82440003
109NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.82385820
110SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.81743031
111CTCF_18555785_ChIP-Seq_MESCs_Mouse0.79722713
112SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.79276086
113NANOG_18692474_ChIP-Seq_MEFs_Mouse0.76987593
114CTBP1_25329375_ChIP-Seq_LNCAP_Human0.74693761
115MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.73250581
116P300_19829295_ChIP-Seq_ESCs_Human0.69543163
117ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.67012466
118* PCGF2_27294783_Chip-Seq_ESCs_Mouse0.66450835
119GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.66208568
120NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.64672033

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.19731814
2MP0004957_abnormal_blastocyst_morpholog4.97253697
3MP0009379_abnormal_foot_pigmentation4.67191455
4MP0003806_abnormal_nucleotide_metabolis4.50014729
5MP0010094_abnormal_chromosome_stability3.80268935
6MP0008057_abnormal_DNA_replication3.69667866
7MP0003077_abnormal_cell_cycle3.59256397
8MP0008932_abnormal_embryonic_tissue3.26946461
9MP0003111_abnormal_nucleus_morphology3.25283242
10MP0008058_abnormal_DNA_repair2.93509430
11MP0003123_paternal_imprinting2.89291241
12MP0003186_abnormal_redox_activity2.40097304
13MP0001529_abnormal_vocalization2.21793995
14MP0005084_abnormal_gallbladder_morpholo2.17283631
15MP0001730_embryonic_growth_arrest2.13135671
16MP0003718_maternal_effect2.11212855
17MP0006036_abnormal_mitochondrial_physio2.10199247
18MP0006035_abnormal_mitochondrial_morpho2.05910536
19MP0004133_heterotaxia2.02065919
20MP0008007_abnormal_cellular_replicative2.00582518
21MP0010030_abnormal_orbit_morphology1.91543207
22MP0000350_abnormal_cell_proliferation1.88130905
23MP0003786_premature_aging1.86322560
24MP0003136_yellow_coat_color1.63947293
25MP0003315_abnormal_perineum_morphology1.62996619
26MP0008877_abnormal_DNA_methylation1.56557335
27MP0003890_abnormal_embryonic-extraembry1.53593667
28MP0002938_white_spotting1.52974900
29MP0001697_abnormal_embryo_size1.52050533
30MP0000566_synostosis1.45022236
31MP0001188_hyperpigmentation1.42200831
32MP0002139_abnormal_hepatobiliary_system1.36050796
33MP0005380_embryogenesis_phenotype1.35174413
34MP0001672_abnormal_embryogenesis/_devel1.35174413
35MP0002080_prenatal_lethality1.34718723
36MP0005266_abnormal_metabolism1.33263157
37MP0000537_abnormal_urethra_morphology1.28987681
38MP0002085_abnormal_embryonic_tissue1.28056095
39MP0001485_abnormal_pinna_reflex1.27930228
40MP0000631_abnormal_neuroendocrine_gland1.26060398
41MP0003567_abnormal_fetal_cardiomyocyte1.25423383
42MP0005408_hypopigmentation1.22294698
43MP0000358_abnormal_cell_content/1.22139300
44MP0000313_abnormal_cell_death1.18673574
45MP0002233_abnormal_nose_morphology1.18608170
46MP0002736_abnormal_nociception_after1.18201086
47MP0001727_abnormal_embryo_implantation1.17415273
48MP0006292_abnormal_olfactory_placode1.17173770
49MP0002282_abnormal_trachea_morphology1.15106240
50MP0001293_anophthalmia1.14918875
51MP0003984_embryonic_growth_retardation1.14040916
52MP0005360_urolithiasis1.12247173
53MP0002084_abnormal_developmental_patter1.12242441
54MP0002088_abnormal_embryonic_growth/wei1.11742789
55MP0008995_early_reproductive_senescence1.11059200
56MP0003122_maternal_imprinting1.08730365
57MP0004197_abnormal_fetal_growth/weight/1.08329380
58MP0003121_genomic_imprinting1.06836282
59MP0002160_abnormal_reproductive_system1.05443448
60MP0003941_abnormal_skin_development1.04999688
61MP0010352_gastrointestinal_tract_polyps1.04950873
62MP0002210_abnormal_sex_determination1.00991318
63MP0000750_abnormal_muscle_regeneration1.00556231
64MP0000490_abnormal_crypts_of0.97862816
65MP0001145_abnormal_male_reproductive0.97092614
66MP0003119_abnormal_digestive_system0.95296548
67MP0002102_abnormal_ear_morphology0.93943708
68MP0009053_abnormal_anal_canal0.93756980
69MP0002928_abnormal_bile_duct0.92803950
70MP0000372_irregular_coat_pigmentation0.92340894
71MP0002132_abnormal_respiratory_system0.90780100
72MP0003880_abnormal_central_pattern0.90735552
73MP0002086_abnormal_extraembryonic_tissu0.90163141
74MP0002111_abnormal_tail_morphology0.89152325
75MP0002019_abnormal_tumor_incidence0.87497543
76MP0003937_abnormal_limbs/digits/tail_de0.87289738
77MP0005085_abnormal_gallbladder_physiolo0.86890264
78MP0009697_abnormal_copulation0.86599784
79MP0005391_vision/eye_phenotype0.85183101
80MP0002751_abnormal_autonomic_nervous0.84697342
81MP0001905_abnormal_dopamine_level0.83842331
82MP0005253_abnormal_eye_physiology0.83641068
83MP0005389_reproductive_system_phenotype0.83323921
84MP0001764_abnormal_homeostasis0.83215810
85MP0000653_abnormal_sex_gland0.82002947
86MP0001286_abnormal_eye_development0.81567279
87MP0004742_abnormal_vestibular_system0.80884283
88MP0003755_abnormal_palate_morphology0.80717131
89MP0005187_abnormal_penis_morphology0.80688830
90MP0004142_abnormal_muscle_tone0.80115469
91MP0001984_abnormal_olfaction0.80086506
92MP0000579_abnormal_nail_morphology0.79273028
93MP0003861_abnormal_nervous_system0.78983739
94MP0000647_abnormal_sebaceous_gland0.78138579
95MP0000049_abnormal_middle_ear0.77473099
96MP0005376_homeostasis/metabolism_phenot0.77363120
97MP0001853_heart_inflammation0.77166669
98MP0005171_absent_coat_pigmentation0.76418789
99MP0006072_abnormal_retinal_apoptosis0.75484402
100MP0005332_abnormal_amino_acid0.74858819
101MP0005083_abnormal_biliary_tract0.73721052
102MP0002090_abnormal_vision0.73662069
103MP0005551_abnormal_eye_electrophysiolog0.73299571
104MP0004147_increased_porphyrin_level0.72054644
105MP0009703_decreased_birth_body0.71664543
106MP0008789_abnormal_olfactory_epithelium0.71418113
107MP0009250_abnormal_appendicular_skeleto0.71253456
108MP0008875_abnormal_xenobiotic_pharmacok0.71002167
109MP0003283_abnormal_digestive_organ0.70156731
110MP0002092_abnormal_eye_morphology0.70064899
111MP0000026_abnormal_inner_ear0.69842312
112MP0006276_abnormal_autonomic_nervous0.69727905
113MP0001929_abnormal_gametogenesis0.68382949
114MP0009333_abnormal_splenocyte_physiolog0.67360010
115MP0003195_calcinosis0.66569837
116MP0002638_abnormal_pupillary_reflex0.65802210
117MP0005195_abnormal_posterior_eye0.65442752
118MP0003221_abnormal_cardiomyocyte_apopto0.65400346
119MP0003936_abnormal_reproductive_system0.63611862
120MP0008872_abnormal_physiological_respon0.61287149
121MP0002697_abnormal_eye_size0.60942586
122MP0005636_abnormal_mineral_homeostasis0.58738227
123MP0003011_delayed_dark_adaptation0.57988912
124MP0005501_abnormal_skin_physiology0.57645869
125MP0009672_abnormal_birth_weight0.57453413
126MP0002163_abnormal_gland_morphology0.55423038
127MP0000762_abnormal_tongue_morphology0.54923420
128MP0005395_other_phenotype0.53802067
129MP0002277_abnormal_respiratory_mucosa0.53672139
130MP0010307_abnormal_tumor_latency0.53079822
131MP0002653_abnormal_ependyma_morphology0.52931539
132MP0003938_abnormal_ear_development0.52298111
133MP0002332_abnormal_exercise_endurance0.52134001

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)6.42906558
2Acute necrotizing encephalopathy (HP:0006965)5.87553564
3Reticulocytopenia (HP:0001896)5.71880741
4Abnormal number of erythroid precursors (HP:0012131)5.70063399
5Abnormal mitochondria in muscle tissue (HP:0008316)5.38073932
6Acute encephalopathy (HP:0006846)5.06550968
7Mitochondrial inheritance (HP:0001427)4.97686695
8Macrocytic anemia (HP:0001972)4.91635449
9Progressive macrocephaly (HP:0004481)4.80783035
10Increased CSF lactate (HP:0002490)4.50350839
11Increased hepatocellular lipid droplets (HP:0006565)4.34200234
12Hepatocellular necrosis (HP:0001404)4.18868832
13Pallor (HP:0000980)4.15380722
14Lipid accumulation in hepatocytes (HP:0006561)4.05918552
15Cerebral edema (HP:0002181)4.05427170
16Decreased activity of mitochondrial respiratory chain (HP:0008972)3.86472130
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.86472130
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.81579811
19Hepatic necrosis (HP:0002605)3.76064622
20Increased serum pyruvate (HP:0003542)3.65332182
21Abnormality of glycolysis (HP:0004366)3.65332182
22Oral leukoplakia (HP:0002745)3.54468919
23Congenital, generalized hypertrichosis (HP:0004540)3.47049400
24Increased serum lactate (HP:0002151)3.44120209
25Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.42043137
26Septo-optic dysplasia (HP:0100842)3.36570536
27Increased intramyocellular lipid droplets (HP:0012240)3.35756502
28Exercise intolerance (HP:0003546)3.28769892
29Renal Fanconi syndrome (HP:0001994)3.26389079
303-Methylglutaconic aciduria (HP:0003535)3.19858082
31Respiratory failure (HP:0002878)3.19447746
32Leukodystrophy (HP:0002415)3.19337041
33Birth length less than 3rd percentile (HP:0003561)3.16561273
34Breast hypoplasia (HP:0003187)3.10587697
35Lactic acidosis (HP:0003128)3.08308252
36Increased muscle lipid content (HP:0009058)2.89907326
37Multiple enchondromatosis (HP:0005701)2.89184016
38Exertional dyspnea (HP:0002875)2.88181992
39Abnormality of the labia minora (HP:0012880)2.81960266
40Colon cancer (HP:0003003)2.77291963
41Cerebral hypomyelination (HP:0006808)2.71976182
42Optic disc pallor (HP:0000543)2.70558189
43Aplasia/Hypoplasia of the sacrum (HP:0008517)2.67620876
44Abnormal hemoglobin (HP:0011902)2.66297988
45Trismus (HP:0000211)2.56402037
46Hypoplasia of the pons (HP:0012110)2.51459518
47Bilateral microphthalmos (HP:0007633)2.49196286
48Rough bone trabeculation (HP:0100670)2.48810110
49Abnormality of the ileum (HP:0001549)2.48732798
50Abnormality of the pons (HP:0007361)2.48662098
51Aplastic anemia (HP:0001915)2.44904615
52Megaloblastic anemia (HP:0001889)2.41978871
53Respiratory difficulties (HP:0002880)2.41890216
54Carpal bone hypoplasia (HP:0001498)2.38433882
55Methylmalonic acidemia (HP:0002912)2.38025385
56Abnormality of methionine metabolism (HP:0010901)2.35312423
57CNS demyelination (HP:0007305)2.34190221
58Absent septum pellucidum (HP:0001331)2.33734872
59Lethargy (HP:0001254)2.33692819
60Abnormality of reticulocytes (HP:0004312)2.29262622
61Aplasia/Hypoplasia of the uvula (HP:0010293)2.28423606
62Selective tooth agenesis (HP:0001592)2.27357873
63Stenosis of the external auditory canal (HP:0000402)2.25948546
64Absent radius (HP:0003974)2.21222067
65Microvesicular hepatic steatosis (HP:0001414)2.19617068
66Emotional lability (HP:0000712)2.19612207
67True hermaphroditism (HP:0010459)2.17285536
68Abnormal number of incisors (HP:0011064)2.15548737
69Anophthalmia (HP:0000528)2.14626436
70Absent thumb (HP:0009777)2.14134535
71Supernumerary spleens (HP:0009799)2.13465666
72Maternal diabetes (HP:0009800)2.12452557
73Abnormality of chromosome stability (HP:0003220)2.12096902
74Glossoptosis (HP:0000162)2.10910708
75Abnormality of abdominal situs (HP:0011620)2.10702884
76Abdominal situs inversus (HP:0003363)2.10702884
77Esophageal atresia (HP:0002032)2.09980931
78Secondary amenorrhea (HP:0000869)2.09357042
79Hyperglycinemia (HP:0002154)2.09060389
80Absent forearm bone (HP:0003953)2.08323031
81Aplasia involving forearm bones (HP:0009822)2.08323031
82Progressive external ophthalmoplegia (HP:0000590)2.05971565
83Horseshoe kidney (HP:0000085)2.05038604
84Abnormality of serum amino acid levels (HP:0003112)2.04015122
85Abnormality of the septum pellucidum (HP:0007375)2.02957073
86Abnormality of pyrimidine metabolism (HP:0004353)2.02666373
87Premature graying of hair (HP:0002216)1.99738677
88Hypobetalipoproteinemia (HP:0003563)1.98346200
89Abnormality of placental membranes (HP:0011409)1.98267143
90Amniotic constriction ring (HP:0009775)1.98267143
91Hyperphosphaturia (HP:0003109)1.96966730
92Abnormality of the anterior horn cell (HP:0006802)1.95625969
93Degeneration of anterior horn cells (HP:0002398)1.95625969
94Triphalangeal thumb (HP:0001199)1.94624118
95Abnormality of renal resorption (HP:0011038)1.92955348
96Microretrognathia (HP:0000308)1.92835044
97Asplenia (HP:0001746)1.92237647
98Methylmalonic aciduria (HP:0012120)1.91880862
99Abnormal trabecular bone morphology (HP:0100671)1.91636375
100Chromsome breakage (HP:0040012)1.90510839
101Cellular immunodeficiency (HP:0005374)1.90098900
102Abnormality of aspartate family amino acid metabolism (HP:0010899)1.88183109
103Premature ovarian failure (HP:0008209)1.87133805
104Pancreatic fibrosis (HP:0100732)1.86468330
105Glycosuria (HP:0003076)1.85878743
106Abnormality of urine glucose concentration (HP:0011016)1.85878743
107Patellar aplasia (HP:0006443)1.83272116
10811 pairs of ribs (HP:0000878)1.82499725
109Duodenal stenosis (HP:0100867)1.82147023
110Small intestinal stenosis (HP:0012848)1.82147023
111Homocystinuria (HP:0002156)1.81067912
112Abnormality of homocysteine metabolism (HP:0010919)1.81067912
113Pancreatic cysts (HP:0001737)1.79980152
114Abnormality of the preputium (HP:0100587)1.78424177
115Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.77739383
116Pendular nystagmus (HP:0012043)1.77319013
117Optic nerve hypoplasia (HP:0000609)1.76183394
118Pancytopenia (HP:0001876)1.76134338
119Sclerocornea (HP:0000647)1.75496123
120Type I transferrin isoform profile (HP:0003642)1.75272346
121Abnormality of the duodenum (HP:0002246)1.74968955
122Aplasia/Hypoplasia of the spleen (HP:0010451)1.74677166
123Hyperglycinuria (HP:0003108)1.74519077
124CNS hypomyelination (HP:0003429)1.74023148
125X-linked dominant inheritance (HP:0001423)1.72270241
126Aplasia/Hypoplasia of the patella (HP:0006498)1.72106389
127Hypoglycemic coma (HP:0001325)1.71620417
128Hypoplasia of the radius (HP:0002984)1.71204584
129Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.70101092
130Medulloblastoma (HP:0002885)1.69635974
131Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.69592581
132Aplasia/hypoplasia of the uterus (HP:0008684)1.69567506
133Chromosomal breakage induced by crosslinking agents (HP:0003221)1.69383167
134Gastrointestinal atresia (HP:0002589)1.67773740
135Atresia of the external auditory canal (HP:0000413)1.66818455
136Sparse eyelashes (HP:0000653)1.66328478
137Hyperalaninemia (HP:0003348)1.66242314
138Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66242314
139Neoplasm of the pancreas (HP:0002894)1.65712234
140Abnormal lung lobation (HP:0002101)1.65042111
141Meckel diverticulum (HP:0002245)1.64943023
142Facial cleft (HP:0002006)1.64863356
143Blindness (HP:0000618)1.63878517

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.48084122
2NME24.30338990
3WEE14.20614806
4VRK23.94539117
5EIF2AK13.68677502
6MAPK153.27746452
7CDC73.17546445
8STK162.93970661
9SRPK12.91540179
10VRK12.86134078
11PBK2.57187794
12TSSK62.49547228
13TLK12.39170756
14PNCK2.34868502
15TESK22.30177562
16NME12.19721551
17EIF2AK32.14623689
18TAF12.03952661
19TNIK1.95248303
20PLK41.94616373
21TTK1.82992496
22RPS6KB21.65866669
23MKNK11.64082312
24PLK11.63406524
25NEK11.62217168
26MST41.56779388
27ACVR1B1.54561409
28AURKA1.48215364
29CDK71.46232509
30BCKDK1.45632092
31AURKB1.45118940
32PLK31.33502854
33DYRK31.28143073
34WNK31.27895310
35BRSK21.26667764
36NEK21.23547525
37EPHA21.21389943
38NUAK11.20732161
39MAP3K121.16269555
40LIMK11.12023330
41PASK1.09467489
42MAP3K81.07961394
43PIM21.07511568
44CSNK2A21.07221343
45ATR1.03088218
46LRRK21.00081155
47MAP3K110.97693925
48PAK40.97602498
49MKNK20.96473829
50ABL20.96092563
51CDK30.95694341
52CHEK20.94440464
53KDR0.91013077
54TGFBR10.90411502
55CSNK2A10.90389628
56SCYL20.87155776
57DYRK20.86535854
58CHEK10.86416456
59TESK10.86353864
60CDK80.85628760
61TRIM280.84041432
62CASK0.83130074
63EIF2AK20.81453461
64STK390.78591840
65RPS6KA50.76918056
66PAK10.73334383
67PDK20.70692868
68STK40.69879930
69LATS20.69692395
70RPS6KA40.69405642
71BRAF0.66716184
72CSNK1E0.64489721
73STK100.63038694
74ATM0.62519952
75ILK0.60448557
76PRKCI0.59972515
77PRKCG0.58518658
78GRK10.58464455
79CSNK1G30.57893201
80CDK20.56042570
81BRSK10.55967534
82CDK40.55642647
83CSNK1G20.55320987
84INSRR0.54858736
85FGFR10.54495132
86GRK60.53436981
87PLK20.50768899
88MAPKAPK50.50508706
89ZAK0.49798431
90CDK10.46299999
91STK38L0.45278144
92ERBB40.43997751
93BCR0.42484009
94OXSR10.41158181
95TIE10.40054996
96ARAF0.38029766
97AKT20.38010742
98MAP4K20.37217759
99PIM10.36493982
100MAP2K20.35959668
101WNK40.34280369
102CDK190.31691263
103ADRBK10.31601256
104MAP2K70.31478036
105CSNK1G10.31037207
106DAPK30.29668593
107BMPR1B0.29612291
108PRKDC0.27266097
109MAP3K40.27162161
110GRK70.26719782
111CSNK1A1L0.26640383
112PAK20.24247695
113CDK140.23720705
114CSNK1A10.23574893
115ERBB30.23536556
116MELK0.22904166
117CDK11A0.22721494
118STK30.22325379
119MET0.21848647
120CCNB10.20459430
121MOS0.20022048
122ALK0.19194745
123MAPKAPK30.18198499
124MAP3K100.17963775
125BRD40.17815251
126PRKACB0.17255106
127CDK150.17139668
128OBSCN0.16579847
129ADRBK20.16492898
130UHMK10.14259146
131MINK10.12875170

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.69308015
2Proteasome_Homo sapiens_hsa030503.91567599
3Oxidative phosphorylation_Homo sapiens_hsa001903.55746203
4DNA replication_Homo sapiens_hsa030303.50588611
5RNA polymerase_Homo sapiens_hsa030203.38807668
6Parkinsons disease_Homo sapiens_hsa050123.28415262
7Mismatch repair_Homo sapiens_hsa034303.14345327
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.01284384
9Spliceosome_Homo sapiens_hsa030402.87016010
10Huntingtons disease_Homo sapiens_hsa050162.51989915
11Pyrimidine metabolism_Homo sapiens_hsa002402.42025280
12One carbon pool by folate_Homo sapiens_hsa006702.28791268
13Nucleotide excision repair_Homo sapiens_hsa034202.26933159
14RNA transport_Homo sapiens_hsa030132.23452728
15Homologous recombination_Homo sapiens_hsa034402.17480983
16Alzheimers disease_Homo sapiens_hsa050102.14546722
17Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.01326628
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.95048908
19Protein export_Homo sapiens_hsa030601.79134719
20Base excision repair_Homo sapiens_hsa034101.73256538
21RNA degradation_Homo sapiens_hsa030181.51106278
22Non-homologous end-joining_Homo sapiens_hsa034501.39116370
23Basal transcription factors_Homo sapiens_hsa030221.38062368
24Cell cycle_Homo sapiens_hsa041101.32242931
25Fanconi anemia pathway_Homo sapiens_hsa034601.31158843
26Cysteine and methionine metabolism_Homo sapiens_hsa002701.25211481
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23301523
28Sulfur relay system_Homo sapiens_hsa041221.16456996
29Purine metabolism_Homo sapiens_hsa002301.13905337
30Glutathione metabolism_Homo sapiens_hsa004801.13146124
31Cardiac muscle contraction_Homo sapiens_hsa042601.12319826
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.12199806
33Folate biosynthesis_Homo sapiens_hsa007901.11555418
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.10310429
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.07454356
36Carbon metabolism_Homo sapiens_hsa012000.94437620
37Systemic lupus erythematosus_Homo sapiens_hsa053220.94296248
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94278790
39Biosynthesis of amino acids_Homo sapiens_hsa012300.93808678
40Drug metabolism - other enzymes_Homo sapiens_hsa009830.92297629
41Maturity onset diabetes of the young_Homo sapiens_hsa049500.91775825
42Cyanoamino acid metabolism_Homo sapiens_hsa004600.91656186
43Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.91098074
44Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89584592
45mRNA surveillance pathway_Homo sapiens_hsa030150.87089103
46Pyruvate metabolism_Homo sapiens_hsa006200.83881251
47Tyrosine metabolism_Homo sapiens_hsa003500.80799078
48Vitamin digestion and absorption_Homo sapiens_hsa049770.78137590
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76768511
50Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.75300419
51Fatty acid elongation_Homo sapiens_hsa000620.75216044
52Metabolic pathways_Homo sapiens_hsa011000.74320989
53Phenylalanine metabolism_Homo sapiens_hsa003600.73095735
54p53 signaling pathway_Homo sapiens_hsa041150.72682855
55Pentose phosphate pathway_Homo sapiens_hsa000300.70637947
56Epstein-Barr virus infection_Homo sapiens_hsa051690.68474473
57Selenocompound metabolism_Homo sapiens_hsa004500.68119370
58Sulfur metabolism_Homo sapiens_hsa009200.66621262
59Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.65660622
60Propanoate metabolism_Homo sapiens_hsa006400.65010950
61Arginine and proline metabolism_Homo sapiens_hsa003300.62612637
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.62441299
63Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61836006
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61324443
65Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60948002
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.58549650
67Nitrogen metabolism_Homo sapiens_hsa009100.56999486
68Chemical carcinogenesis_Homo sapiens_hsa052040.55887166
69Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.55763359
70Steroid biosynthesis_Homo sapiens_hsa001000.51321499
71Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.46309482
72Hedgehog signaling pathway_Homo sapiens_hsa043400.44693616
73Linoleic acid metabolism_Homo sapiens_hsa005910.42962049
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42889136
75Phototransduction_Homo sapiens_hsa047440.39696828
76Peroxisome_Homo sapiens_hsa041460.38444604
77Caffeine metabolism_Homo sapiens_hsa002320.37577791
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.37380707
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36566275
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36303592
81Butanoate metabolism_Homo sapiens_hsa006500.35493733
82Wnt signaling pathway_Homo sapiens_hsa043100.35153810
83TGF-beta signaling pathway_Homo sapiens_hsa043500.33379939
84Fatty acid metabolism_Homo sapiens_hsa012120.32974559
85Histidine metabolism_Homo sapiens_hsa003400.32447242
86Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29907828
87Retinol metabolism_Homo sapiens_hsa008300.29604500
88Arachidonic acid metabolism_Homo sapiens_hsa005900.29402017
89Primary bile acid biosynthesis_Homo sapiens_hsa001200.27904133
90Fat digestion and absorption_Homo sapiens_hsa049750.27893148
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26738108
92Fructose and mannose metabolism_Homo sapiens_hsa000510.26274408
93Vitamin B6 metabolism_Homo sapiens_hsa007500.25775308
94Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.24582784
95alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.23671838
96Viral carcinogenesis_Homo sapiens_hsa052030.23032156
97Oocyte meiosis_Homo sapiens_hsa041140.22642577
98Nicotine addiction_Homo sapiens_hsa050330.22447449
99Alcoholism_Homo sapiens_hsa050340.22327059
100N-Glycan biosynthesis_Homo sapiens_hsa005100.22132232
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.21960372
102Antigen processing and presentation_Homo sapiens_hsa046120.21947116
103Tryptophan metabolism_Homo sapiens_hsa003800.21517371
104Hippo signaling pathway_Homo sapiens_hsa043900.20824071
105Fatty acid degradation_Homo sapiens_hsa000710.20817237
106beta-Alanine metabolism_Homo sapiens_hsa004100.20297857
107Arginine biosynthesis_Homo sapiens_hsa002200.18673321
108Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.18627166
109Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.18086146
110Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17206498
111Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.14627740
112Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.11619015
113Thyroid cancer_Homo sapiens_hsa052160.09374339
114Herpes simplex infection_Homo sapiens_hsa051680.08383602
115Ether lipid metabolism_Homo sapiens_hsa005650.07970355
116Galactose metabolism_Homo sapiens_hsa000520.07936015
117Basal cell carcinoma_Homo sapiens_hsa052170.06876927

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