PPIH

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: The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)4.91089361
2maturation of SSU-rRNA (GO:0030490)4.85640636
3DNA strand elongation involved in DNA replication (GO:0006271)4.71634959
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.70710857
5mitotic metaphase plate congression (GO:0007080)4.55914815
6DNA replication initiation (GO:0006270)4.55614503
7DNA strand elongation (GO:0022616)4.47970676
8telomere maintenance via semi-conservative replication (GO:0032201)4.45753643
9CENP-A containing nucleosome assembly (GO:0034080)4.43044978
10chromatin remodeling at centromere (GO:0031055)4.36910512
11DNA replication checkpoint (GO:0000076)4.34035592
12viral transcription (GO:0019083)4.25133464
13translational termination (GO:0006415)4.20319614
14ribosomal large subunit biogenesis (GO:0042273)4.18344152
15ribosomal small subunit biogenesis (GO:0042274)4.14617945
16protein localization to kinetochore (GO:0034501)4.14332209
17DNA deamination (GO:0045006)4.14069504
18formation of translation preinitiation complex (GO:0001731)4.13273951
19energy coupled proton transport, down electrochemical gradient (GO:0015985)4.12044795
20ATP synthesis coupled proton transport (GO:0015986)4.12044795
21nucleobase biosynthetic process (GO:0046112)4.10075852
22kinetochore organization (GO:0051383)4.04388983
23telomere maintenance via recombination (GO:0000722)4.03288920
24DNA unwinding involved in DNA replication (GO:0006268)4.02054160
25DNA replication-independent nucleosome organization (GO:0034724)3.95381168
26DNA replication-independent nucleosome assembly (GO:0006336)3.95381168
27purine nucleobase biosynthetic process (GO:0009113)3.92282561
28metaphase plate congression (GO:0051310)3.90813793
29ribonucleoprotein complex biogenesis (GO:0022613)3.88774882
30mitotic recombination (GO:0006312)3.87739109
31kinetochore assembly (GO:0051382)3.85362037
32translational elongation (GO:0006414)3.80744915
33translational initiation (GO:0006413)3.76079066
34spliceosomal snRNP assembly (GO:0000387)3.75422836
35ribosome biogenesis (GO:0042254)3.73723359
36establishment of viral latency (GO:0019043)3.70493887
37DNA ligation (GO:0006266)3.70210896
38establishment of protein localization to mitochondrial membrane (GO:0090151)3.69997961
39histone exchange (GO:0043486)3.68869091
40telomere maintenance via telomere lengthening (GO:0010833)3.66652296
41DNA replication-dependent nucleosome organization (GO:0034723)3.66200483
42DNA replication-dependent nucleosome assembly (GO:0006335)3.66200483
43protein localization to chromosome, centromeric region (GO:0071459)3.66075315
44ribosome assembly (GO:0042255)3.61612077
45chaperone-mediated protein transport (GO:0072321)3.61426325
46mitotic nuclear envelope disassembly (GO:0007077)3.61410323
47attachment of spindle microtubules to kinetochore (GO:0008608)3.60354702
48regulation of mitochondrial translation (GO:0070129)3.60298350
49SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.59714650
50establishment of chromosome localization (GO:0051303)3.58498652
51regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.56990423
52nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.56841831
53rRNA processing (GO:0006364)3.56568206
54proteasome assembly (GO:0043248)3.53916772
55cotranslational protein targeting to membrane (GO:0006613)3.51583105
56nucleotide-excision repair, DNA gap filling (GO:0006297)3.50037404
57anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.49497274
58protein targeting to ER (GO:0045047)3.49019739
59oxidative phosphorylation (GO:0006119)3.47359355
60negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.45766464
61rRNA metabolic process (GO:0016072)3.45088960
62rRNA modification (GO:0000154)3.42649610
63transcription-coupled nucleotide-excision repair (GO:0006283)3.41793491
64regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.41644585
65spliceosomal complex assembly (GO:0000245)3.41359173
66positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.37379845
67DNA topological change (GO:0006265)3.36227161
68cellular protein complex disassembly (GO:0043624)3.35724313
69mitotic chromosome condensation (GO:0007076)3.34246859
70nuclear envelope disassembly (GO:0051081)3.31788547
71membrane disassembly (GO:0030397)3.31788547
72sister chromatid segregation (GO:0000819)3.30783070
73establishment of protein localization to endoplasmic reticulum (GO:0072599)3.30651396
74establishment of integrated proviral latency (GO:0075713)3.30429745
75viral life cycle (GO:0019058)3.29970404
76mitotic sister chromatid segregation (GO:0000070)3.27886254
77protein localization to endoplasmic reticulum (GO:0070972)3.26512458
78respiratory electron transport chain (GO:0022904)3.25250357
79termination of RNA polymerase III transcription (GO:0006386)3.24081538
80transcription elongation from RNA polymerase III promoter (GO:0006385)3.24081538
81pseudouridine synthesis (GO:0001522)3.23474569
82protein targeting to mitochondrion (GO:0006626)3.22260687
83deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.20847252
84IMP biosynthetic process (GO:0006188)3.19327438
85translation (GO:0006412)3.18813156
86regulation of spindle organization (GO:0090224)3.17940760
87regulation of double-strand break repair via homologous recombination (GO:0010569)3.17773132
88electron transport chain (GO:0022900)3.16916588
89spindle checkpoint (GO:0031577)3.16686611
90macromolecular complex disassembly (GO:0032984)3.16183684
91negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.15479542
92negative regulation of ligase activity (GO:0051352)3.15479542
93nuclear pore organization (GO:0006999)3.15285615
94maturation of 5.8S rRNA (GO:0000460)3.14381606
95folic acid-containing compound biosynthetic process (GO:0009396)3.14070303
96mitochondrial RNA metabolic process (GO:0000959)3.12607374
977-methylguanosine mRNA capping (GO:0006370)3.11658236
98cell cycle G1/S phase transition (GO:0044843)3.11051978
99G1/S transition of mitotic cell cycle (GO:0000082)3.11051978
100mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.08449052
101nuclear-transcribed mRNA catabolic process (GO:0000956)3.08423964
102regulation of nuclear cell cycle DNA replication (GO:0033262)3.08223749
103protein complex disassembly (GO:0043241)3.07210142
104IMP metabolic process (GO:0046040)3.07005760
1057-methylguanosine RNA capping (GO:0009452)3.06931029
106RNA capping (GO:0036260)3.06931029
107negative regulation of mitotic sister chromatid separation (GO:2000816)3.06436283
108negative regulation of mitotic sister chromatid segregation (GO:0033048)3.06436283
109negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.06436283
110negative regulation of sister chromatid segregation (GO:0033046)3.06436283
111negative regulation of chromosome segregation (GO:0051985)3.05883918
112transcription from mitochondrial promoter (GO:0006390)3.04749947
113viral mRNA export from host cell nucleus (GO:0046784)3.04685791
114exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.04604167
115inner mitochondrial membrane organization (GO:0007007)3.04200150
116meiotic chromosome segregation (GO:0045132)3.03489020
117protein K6-linked ubiquitination (GO:0085020)3.02223680
118spindle assembly checkpoint (GO:0071173)3.01386203
119positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.01140099
120cellular component biogenesis (GO:0044085)3.00683227
121regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.00356761
122mitotic spindle assembly checkpoint (GO:0007094)2.99070229
123positive regulation of ligase activity (GO:0051351)2.98669514
124establishment of protein localization to mitochondrion (GO:0072655)2.98351326
125regulation of translational fidelity (GO:0006450)2.97854527
126mitochondrial respiratory chain complex assembly (GO:0033108)2.96549290
127mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.96499978
128NADH dehydrogenase complex assembly (GO:0010257)2.96499978

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.30214253
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.47592313
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.95000549
4* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.84962572
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.75196528
6* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.63147143
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.43968722
8FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.33525641
9* GABP_17652178_ChIP-ChIP_JURKAT_Human3.30321461
10* MYC_19079543_ChIP-ChIP_MESCs_Mouse3.13737563
11JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.11065954
12ETS1_20019798_ChIP-Seq_JURKAT_Human3.08915739
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.95645069
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.95481551
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.92673174
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.70749957
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.59085951
18E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.52186961
19XRN2_22483619_ChIP-Seq_HELA_Human2.48276224
20NELFA_20434984_ChIP-Seq_ESCs_Mouse2.42608035
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.39307627
22* VDR_23849224_ChIP-Seq_CD4+_Human2.38895670
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.20966715
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.17813210
25* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.11540794
26AR_21909140_ChIP-Seq_LNCAP_Human2.10954542
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10833106
28DCP1A_22483619_ChIP-Seq_HELA_Human2.09784834
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.08738726
30FOXP3_21729870_ChIP-Seq_TREG_Human2.08110531
31MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.02981510
32E2F1_21310950_ChIP-Seq_MCF-7_Human2.00200127
33* GABP_19822575_ChIP-Seq_HepG2_Human1.93278715
34TTF2_22483619_ChIP-Seq_HELA_Human1.93146896
35MYCN_18555785_ChIP-Seq_MESCs_Mouse1.89925631
36ELK1_19687146_ChIP-ChIP_HELA_Human1.88878410
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.87550084
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.79556695
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79348796
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.74602447
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.73776043
42SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.71394416
43CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.68467970
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.68300560
45FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.67808272
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65759588
47* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.63850963
48* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.59050898
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.55270728
50SRF_21415370_ChIP-Seq_HL-1_Mouse1.54802983
51CIITA_25753668_ChIP-Seq_RAJI_Human1.52884697
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.50490349
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.45914009
54KDM5A_27292631_Chip-Seq_BREAST_Human1.43643625
55CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37941046
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.36669855
57EGR1_19374776_ChIP-ChIP_THP-1_Human1.29034515
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.28937485
59PADI4_21655091_ChIP-ChIP_MCF-7_Human1.26044909
60CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.23541347
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22512381
62TP63_19390658_ChIP-ChIP_HaCaT_Human1.21180726
63SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.20873849
64ERG_20887958_ChIP-Seq_HPC-7_Mouse1.20394777
65PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.19263260
66MYC_18940864_ChIP-ChIP_HL60_Human1.18933742
67POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.18633068
68HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.15506148
69KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.13839788
70* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12744609
71SOX2_18555785_ChIP-Seq_MESCs_Mouse1.11686306
72ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.10745930
73ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10113661
74* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09943208
75SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.09924095
76MYC_22102868_ChIP-Seq_BL_Human1.07422741
77CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.06705325
78STAT3_1855785_ChIP-Seq_MESCs_Mouse1.05421150
79CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.02167119
80DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.01622281
81ELK1_22589737_ChIP-Seq_MCF10A_Human0.98661384
82HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.97320462
83NOTCH1_21737748_ChIP-Seq_TLL_Human0.95328065
84BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.95318132
85SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.94619934
86TFEB_21752829_ChIP-Seq_HELA_Human0.93992141
87CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.92275088
88* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88999028
89PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.86216053
90SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85112439
91CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.84395218
92SPI1_23547873_ChIP-Seq_NB4_Human0.83410392
93DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.82974400
94NANOG_21062744_ChIP-ChIP_HESCs_Human0.82560776
95GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81305802
96KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.80533062
97CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.80417047
98TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.77599075
99TCF3_18692474_ChIP-Seq_MEFs_Mouse0.76345079
100TBX5_21415370_ChIP-Seq_HL-1_Mouse0.75773109
101SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.75261776
102CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.74102796
103NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.73886368
104HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.71704161
105CTCF_18555785_ChIP-Seq_MESCs_Mouse0.71676869
106FOXP1_21924763_ChIP-Seq_HESCs_Human0.71665075
107* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71027043
108* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.70895008
109SOX17_20123909_ChIP-Seq_XEN_Mouse0.70489482
110PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.69827622
111NANOG_16153702_ChIP-ChIP_HESCs_Human0.69778824
112VDR_21846776_ChIP-Seq_THP-1_Human0.68496547

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.08964760
2MP0010094_abnormal_chromosome_stability4.99105252
3MP0004957_abnormal_blastocyst_morpholog4.84194136
4MP0003111_abnormal_nucleus_morphology4.80781910
5MP0003077_abnormal_cell_cycle4.33430379
6MP0008057_abnormal_DNA_replication4.11191241
7MP0008058_abnormal_DNA_repair3.85337641
8MP0008007_abnormal_cellular_replicative3.16039358
9MP0008932_abnormal_embryonic_tissue3.02507964
10MP0008877_abnormal_DNA_methylation2.67926105
11MP0003123_paternal_imprinting2.53251727
12MP0001730_embryonic_growth_arrest2.29910930
13MP0003786_premature_aging2.27000640
14MP0000350_abnormal_cell_proliferation2.25070768
15MP0002396_abnormal_hematopoietic_system2.24442486
16MP0003718_maternal_effect2.15421903
17MP0004147_increased_porphyrin_level2.07575161
18MP0010307_abnormal_tumor_latency1.85986970
19MP0000490_abnormal_crypts_of1.69560269
20MP0001697_abnormal_embryo_size1.67413155
21MP0001672_abnormal_embryogenesis/_devel1.63764157
22MP0005380_embryogenesis_phenotype1.63764157
23MP0010352_gastrointestinal_tract_polyps1.55780355
24MP0003315_abnormal_perineum_morphology1.54432762
25MP0002080_prenatal_lethality1.50749279
26MP0000372_irregular_coat_pigmentation1.50558779
27MP0006292_abnormal_olfactory_placode1.48674108
28MP0002210_abnormal_sex_determination1.48051505
29MP0002085_abnormal_embryonic_tissue1.46702486
30MP0000313_abnormal_cell_death1.46569229
31MP0002019_abnormal_tumor_incidence1.43828728
32MP0001529_abnormal_vocalization1.42907215
33MP0003984_embryonic_growth_retardation1.41753054
34MP0009333_abnormal_splenocyte_physiolog1.39743372
35MP0003567_abnormal_fetal_cardiomyocyte1.37508080
36MP0002088_abnormal_embryonic_growth/wei1.37309984
37MP0004808_abnormal_hematopoietic_stem1.28841862
38MP0002084_abnormal_developmental_patter1.27454123
39MP0002132_abnormal_respiratory_system1.26641355
40MP0009379_abnormal_foot_pigmentation1.25724527
41MP0010030_abnormal_orbit_morphology1.25637213
42MP0003121_genomic_imprinting1.24867651
43MP0001145_abnormal_male_reproductive1.24591220
44MP0002086_abnormal_extraembryonic_tissu1.24268818
45MP0003890_abnormal_embryonic-extraembry1.24219637
46MP0003186_abnormal_redox_activity1.18484891
47MP0001764_abnormal_homeostasis1.17328393
48MP0001929_abnormal_gametogenesis1.15436197
49MP0001293_anophthalmia1.14338119
50MP0003806_abnormal_nucleotide_metabolis1.11726815
51MP0001545_abnormal_hematopoietic_system1.11079786
52MP0005397_hematopoietic_system_phenotyp1.11079786
53MP0000653_abnormal_sex_gland1.09351667
54MP0004197_abnormal_fetal_growth/weight/1.06266082
55MP0000703_abnormal_thymus_morphology1.05162552
56MP0002160_abnormal_reproductive_system1.02737926
57MP0003763_abnormal_thymus_physiology1.00791145
58MP0002398_abnormal_bone_marrow1.00645639
59MP0001119_abnormal_female_reproductive0.97775451
60MP0004133_heterotaxia0.97081708
61MP0002722_abnormal_immune_system0.96596083
62MP0000689_abnormal_spleen_morphology0.93616325
63MP0005389_reproductive_system_phenotype0.91198174
64MP0000537_abnormal_urethra_morphology0.90000391
65MP0001661_extended_life_span0.89261534
66MP0002102_abnormal_ear_morphology0.88020104
67MP0001853_heart_inflammation0.84416222
68MP0000358_abnormal_cell_content/0.82825101
69MP0000858_altered_metastatic_potential0.81386448
70MP0009053_abnormal_anal_canal0.80397079
71MP0002429_abnormal_blood_cell0.79343577
72MP0006072_abnormal_retinal_apoptosis0.78944354
73MP0003119_abnormal_digestive_system0.78853321
74MP0001346_abnormal_lacrimal_gland0.77010077
75MP0005384_cellular_phenotype0.74811238
76MP0001881_abnormal_mammary_gland0.74300724
77MP0001286_abnormal_eye_development0.74194506
78MP0006035_abnormal_mitochondrial_morpho0.73749640
79MP0003941_abnormal_skin_development0.72115331
80MP0005076_abnormal_cell_differentiation0.72000859
81MP0005501_abnormal_skin_physiology0.71817237
82MP0002938_white_spotting0.71552537
83MP0006036_abnormal_mitochondrial_physio0.71334541
84MP0003937_abnormal_limbs/digits/tail_de0.69631652
85MP0003656_abnormal_erythrocyte_physiolo0.69533121
86MP0004185_abnormal_adipocyte_glucose0.69076766
87MP0003221_abnormal_cardiomyocyte_apopto0.68282900
88MP0005621_abnormal_cell_physiology0.66684694
89MP0005075_abnormal_melanosome_morpholog0.65801244
90MP0000716_abnormal_immune_system0.65535420
91MP0002111_abnormal_tail_morphology0.65204102
92MP0001919_abnormal_reproductive_system0.65116177
93MP0002163_abnormal_gland_morphology0.64951381
94MP0005451_abnormal_body_composition0.63704507
95MP0008789_abnormal_olfactory_epithelium0.62108700
96MP0008873_increased_physiological_sensi0.62048524
97MP0006054_spinal_hemorrhage0.61433215
98MP0000566_synostosis0.60601413
99MP0002234_abnormal_pharynx_morphology0.60395717
100MP0001835_abnormal_antigen_presentation0.59978296
101MP0002653_abnormal_ependyma_morphology0.59069330
102MP0002697_abnormal_eye_size0.58849114
103MP0009703_decreased_birth_body0.58415956
104MP0003698_abnormal_male_reproductive0.58268112
105MP0003136_yellow_coat_color0.57132438
106MP0000678_abnormal_parathyroid_gland0.56803508
107MP0005408_hypopigmentation0.56189574
108MP0008995_early_reproductive_senescence0.55860646
109MP0002095_abnormal_skin_pigmentation0.54980095
110MP0009672_abnormal_birth_weight0.54421450
111MP0009697_abnormal_copulation0.53893145
112MP0001727_abnormal_embryo_implantation0.53791938
113MP0001986_abnormal_taste_sensitivity0.53324387
114MP0002161_abnormal_fertility/fecundity0.53304191
115MP0003938_abnormal_ear_development0.52957059
116MP0005410_abnormal_fertilization0.52856929
117MP0001915_intracranial_hemorrhage0.52562043
118MP0005395_other_phenotype0.52361925
119MP0003699_abnormal_female_reproductive0.52251666
120MP0005084_abnormal_gallbladder_morpholo0.52117905
121MP0000516_abnormal_urinary_system0.51015329

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.56571819
2Reticulocytopenia (HP:0001896)5.16512581
3Abnormality of cells of the erythroid lineage (HP:0012130)5.06285409
4Abnormal number of erythroid precursors (HP:0012131)4.73746022
5Acute necrotizing encephalopathy (HP:0006965)4.47715548
6Breast hypoplasia (HP:0003187)4.33430570
7Abnormal mitochondria in muscle tissue (HP:0008316)4.30621370
8Chromsome breakage (HP:0040012)4.20211204
9Acute encephalopathy (HP:0006846)4.08895867
10Chromosomal breakage induced by crosslinking agents (HP:0003221)4.06406910
11Oral leukoplakia (HP:0002745)3.90826936
12Patellar aplasia (HP:0006443)3.69620102
13Progressive macrocephaly (HP:0004481)3.49487665
14Aplastic anemia (HP:0001915)3.47956070
15Aplasia/Hypoplasia of the patella (HP:0006498)3.45951075
16Macrocytic anemia (HP:0001972)3.45304503
17Hepatic necrosis (HP:0002605)3.35471660
18Pallor (HP:0000980)3.31976007
19Meckel diverticulum (HP:0002245)3.30754255
20Abnormality of the preputium (HP:0100587)3.28536252
21Colon cancer (HP:0003003)3.27527263
22Abnormality of chromosome stability (HP:0003220)3.17870511
23Carpal bone hypoplasia (HP:0001498)3.15633666
24Abnormality of the ileum (HP:0001549)3.13341541
25Rough bone trabeculation (HP:0100670)3.10555028
26Cerebral edema (HP:0002181)3.07228149
27Increased serum pyruvate (HP:0003542)3.03405533
28Absent thumb (HP:0009777)3.02305921
29Abnormality of the anterior horn cell (HP:0006802)3.02030799
30Degeneration of anterior horn cells (HP:0002398)3.02030799
31Abnormality of glycolysis (HP:0004366)3.00282365
32Aplasia/Hypoplasia of the uvula (HP:0010293)2.93642960
33Cerebral hypomyelination (HP:0006808)2.91389486
34Renal Fanconi syndrome (HP:0001994)2.87296808
35Lactic acidosis (HP:0003128)2.87168115
36Selective tooth agenesis (HP:0001592)2.86521400
37Medulloblastoma (HP:0002885)2.85967668
38Absent radius (HP:0003974)2.85385302
39Increased intramyocellular lipid droplets (HP:0012240)2.84954414
40Small intestinal stenosis (HP:0012848)2.68356992
41Duodenal stenosis (HP:0100867)2.68356992
42Premature graying of hair (HP:0002216)2.68135175
43Absent forearm bone (HP:0003953)2.67975572
44Aplasia involving forearm bones (HP:0009822)2.67975572
45Myelodysplasia (HP:0002863)2.66512015
46Respiratory difficulties (HP:0002880)2.63005193
47Exercise intolerance (HP:0003546)2.61709927
48Microretrognathia (HP:0000308)2.61585710
49Agnosia (HP:0010524)2.59851684
50Bone marrow hypocellularity (HP:0005528)2.54774765
51Duplicated collecting system (HP:0000081)2.54721960
52Impulsivity (HP:0100710)2.52274840
53Horseshoe kidney (HP:0000085)2.49715956
543-Methylglutaconic aciduria (HP:0003535)2.49651044
5511 pairs of ribs (HP:0000878)2.48635978
56Reduced antithrombin III activity (HP:0001976)2.47944937
57Cellular immunodeficiency (HP:0005374)2.47766322
58Abnormal lung lobation (HP:0002101)2.45776342
59Progressive muscle weakness (HP:0003323)2.45663866
60Neoplasm of the pancreas (HP:0002894)2.40833775
61Abnormality of the labia minora (HP:0012880)2.40536627
62Respiratory failure (HP:0002878)2.36682094
63Supernumerary spleens (HP:0009799)2.36278178
64Triphalangeal thumb (HP:0001199)2.34732380
65Abnormal number of incisors (HP:0011064)2.34119814
66Cleft eyelid (HP:0000625)2.32762933
67Increased muscle lipid content (HP:0009058)2.31332930
68Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.31004272
69Abnormality of alanine metabolism (HP:0010916)2.31004272
70Hyperalaninemia (HP:0003348)2.31004272
71Abnormal trabecular bone morphology (HP:0100671)2.30819940
72Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.28740280
73Abnormal protein glycosylation (HP:0012346)2.26801419
74Abnormal glycosylation (HP:0012345)2.26801419
75Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.26801419
76Abnormal protein N-linked glycosylation (HP:0012347)2.26801419
77Tracheoesophageal fistula (HP:0002575)2.26382675
78Multiple enchondromatosis (HP:0005701)2.26254191
79Sloping forehead (HP:0000340)2.24979860
80Premature ovarian failure (HP:0008209)2.24928378
81Cholecystitis (HP:0001082)2.23214038
82Abnormal gallbladder physiology (HP:0012438)2.23214038
83Atresia of the external auditory canal (HP:0000413)2.22502521
84Rhabdomyosarcoma (HP:0002859)2.21587877
85Trismus (HP:0000211)2.19832427
86Secondary amenorrhea (HP:0000869)2.18617073
87Abnormality of the renal collecting system (HP:0004742)2.17772685
88Aplasia/Hypoplasia of the sacrum (HP:0008517)2.17078119
89Increased hepatocellular lipid droplets (HP:0006565)2.16756670
90Abnormality of the duodenum (HP:0002246)2.15932313
91Pancytopenia (HP:0001876)2.13332361
92Ectopic kidney (HP:0000086)2.13214777
93Homocystinuria (HP:0002156)2.12975223
94Abnormality of homocysteine metabolism (HP:0010919)2.12975223
95Leukodystrophy (HP:0002415)2.10534407
96Increased serum lactate (HP:0002151)2.10110262
97Ependymoma (HP:0002888)2.09222236
98Thrombocytosis (HP:0001894)2.08228330
99Decreased activity of mitochondrial respiratory chain (HP:0008972)2.07815454
100Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.07815454
101Clubbing of toes (HP:0100760)2.07240969
102Exertional dyspnea (HP:0002875)2.03579311
103Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.03256036
104Abnormality of cochlea (HP:0000375)2.02628559
105Short thumb (HP:0009778)2.02351402
106Abnormal spermatogenesis (HP:0008669)1.97628168
107Abnormality of methionine metabolism (HP:0010901)1.97199681
108Short middle phalanx of the 5th finger (HP:0004220)1.95899483
109Hepatocellular necrosis (HP:0001404)1.94928201
110Hypoplasia of the radius (HP:0002984)1.94562403
111Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.94118007
112Optic nerve coloboma (HP:0000588)1.93543190
113Increased CSF lactate (HP:0002490)1.93442348
114Stenosis of the external auditory canal (HP:0000402)1.92656863
115Mitochondrial inheritance (HP:0001427)1.92311072
116Abnormality of DNA repair (HP:0003254)1.89768423
117Glossoptosis (HP:0000162)1.89545276
118Aplasia/Hypoplasia of the sternum (HP:0006714)1.87804460
119Lymphoma (HP:0002665)1.86714370
120Hypoplasia of the capital femoral epiphysis (HP:0003090)1.86659462
121Abnormality of the carotid arteries (HP:0005344)1.86541635
122Abnormality of reticulocytes (HP:0004312)1.85970412
123Abnormality of pyrimidine metabolism (HP:0004353)1.84708194
124Slender long bone (HP:0003100)1.82175296
125Type I transferrin isoform profile (HP:0003642)1.82136466
126Optic disc pallor (HP:0000543)1.82103286
127Squamous cell carcinoma (HP:0002860)1.81693706
128Emotional lability (HP:0000712)1.81622878
129Microvesicular hepatic steatosis (HP:0001414)1.79335900
130Lethargy (HP:0001254)1.79161089
131CNS demyelination (HP:0007305)1.78590575
132Nephroblastoma (Wilms tumor) (HP:0002667)1.78471964
133Basal cell carcinoma (HP:0002671)1.78163812
134Abnormality of the heme biosynthetic pathway (HP:0010472)1.78111702
135Facial cleft (HP:0002006)1.78087720
136Lipid accumulation in hepatocytes (HP:0006561)1.76229673
137Ureteral duplication (HP:0000073)1.76126983
138Proximal placement of thumb (HP:0009623)1.75738929
139Abnormality of serum amino acid levels (HP:0003112)1.71165653
140Megaloblastic anemia (HP:0001889)1.70941656
141Postnatal microcephaly (HP:0005484)1.67984606
142Ragged-red muscle fibers (HP:0003200)1.65905327
143Testicular atrophy (HP:0000029)1.65728996
144Methylmalonic acidemia (HP:0002912)1.64741665
145Abnormality of sulfur amino acid metabolism (HP:0004339)1.64002321

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.34735506
2VRK24.58932284
3WEE14.54820574
4CDC74.10919026
5EIF2AK13.53168351
6SRPK13.02235051
7PLK42.76839364
8NME22.74156424
9STK162.67825273
10NEK22.52712046
11BRSK22.35980495
12VRK12.32918681
13TTK2.28235886
14ACVR1B2.27055649
15PLK12.10549513
16TSSK62.01128786
17EIF2AK31.93642741
18NEK11.87435564
19AURKB1.79582685
20TESK21.76731757
21MKNK11.74524035
22PLK31.67639001
23CDK71.62801776
24TLK11.62252781
25ATR1.60882828
26DYRK31.57030998
27TAF11.54734854
28CHEK21.48253165
29BRSK11.46998762
30RPS6KB21.46292414
31RPS6KA41.46286800
32MKNK21.39784689
33ZAK1.30261307
34AURKA1.29141915
35PASK1.27939733
36NUAK11.24486081
37PDK21.22536701
38CCNB11.20112088
39MAP3K81.17913572
40CHEK11.17573326
41PBK1.12177842
42STK41.10016407
43TRIM281.07690616
44CDK81.07021155
45NME11.01621189
46CDK40.99650994
47TGFBR10.98657320
48CLK10.98150569
49CDK190.95603946
50CDK120.94959792
51EPHA20.94487355
52PAK40.93186300
53SMG10.86605255
54BRAF0.84068197
55STK38L0.83347878
56IRAK30.81464377
57STK100.81334923
58ATM0.81039368
59EIF2AK20.79619172
60CDK20.78120594
61CSNK2A10.77062430
62CSNK2A20.76705658
63PNCK0.75471445
64MELK0.73900186
65SCYL20.73662075
66PIM10.73234143
67DAPK10.72870832
68PAK10.69568614
69PIM20.67949114
70CSNK1G30.64871383
71TESK10.64081863
72MST40.62991622
73RAF10.61238685
74DYRK20.60274137
75PRKCI0.60070191
76CDK10.58537755
77IRAK40.57725013
78FLT30.56481481
79LATS20.56183149
80MAP3K110.53279387
81MAPKAPK50.51982328
82ARAF0.51912990
83RPS6KA50.50580767
84STK30.49851799
85EEF2K0.48747092
86BRD40.47908530
87ALK0.47004695
88KDR0.46672464
89ABL20.44033453
90CSNK1G10.43338496
91MAP4K10.43135305
92CSNK1A1L0.41617648
93MAPKAPK30.38665802
94LRRK20.38285349
95LIMK10.33507528
96ILK0.31398013
97TEC0.30982008
98CDK60.30720769
99AKT20.30163450
100DAPK30.29959537
101CSNK1E0.28973462
102CDK11A0.28309053
103TAOK20.27851794
104CDK90.27762773
105MAP3K120.27107293
106CSNK1G20.27043587
107CDK30.26914409
108BTK0.25759969
109YES10.25617591
110MAP4K20.25381805
111PRKDC0.23286225
112CDK140.22859399
113MAP3K100.21684519
114MARK30.20864791
115MAP3K50.20188878
116CDK150.20141251
117CDK180.20042303
118IKBKB0.19767805
119NEK90.18757875
120MAP2K70.18323380
121GRK60.17629105
122LYN0.16594252
123PLK20.15037505
124MAP2K30.14756484
125CSNK1A10.13531897
126MAPK140.12815531
127PDK40.10246262
128PDK30.10246262
129BCKDK0.10202316

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.83201881
2Ribosome_Homo sapiens_hsa030104.18710433
3Mismatch repair_Homo sapiens_hsa034304.15158491
4Proteasome_Homo sapiens_hsa030503.89547927
5RNA polymerase_Homo sapiens_hsa030203.75172928
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.70269717
7* Spliceosome_Homo sapiens_hsa030403.35156905
8Homologous recombination_Homo sapiens_hsa034403.18456799
9RNA transport_Homo sapiens_hsa030133.08006156
10Nucleotide excision repair_Homo sapiens_hsa034202.91728780
11Base excision repair_Homo sapiens_hsa034102.91309675
12Pyrimidine metabolism_Homo sapiens_hsa002402.72187998
13Cell cycle_Homo sapiens_hsa041102.71318670
14Fanconi anemia pathway_Homo sapiens_hsa034602.42278424
15One carbon pool by folate_Homo sapiens_hsa006702.33114060
16Basal transcription factors_Homo sapiens_hsa030222.14725613
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.13154820
18Non-homologous end-joining_Homo sapiens_hsa034502.01795088
19RNA degradation_Homo sapiens_hsa030181.98940397
20mRNA surveillance pathway_Homo sapiens_hsa030151.59007941
21Purine metabolism_Homo sapiens_hsa002301.49143401
22p53 signaling pathway_Homo sapiens_hsa041151.49040483
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.36146255
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.35538184
25Protein export_Homo sapiens_hsa030601.26084883
26Epstein-Barr virus infection_Homo sapiens_hsa051691.26012716
27Systemic lupus erythematosus_Homo sapiens_hsa053221.18532834
28Pyruvate metabolism_Homo sapiens_hsa006201.14891347
29Huntingtons disease_Homo sapiens_hsa050161.07858573
30Fatty acid elongation_Homo sapiens_hsa000621.06902044
31Parkinsons disease_Homo sapiens_hsa050121.02400040
32Oocyte meiosis_Homo sapiens_hsa041140.96157674
33Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92467714
34Herpes simplex infection_Homo sapiens_hsa051680.92308735
35Oxidative phosphorylation_Homo sapiens_hsa001900.89605333
36Pentose phosphate pathway_Homo sapiens_hsa000300.86414797
37Cysteine and methionine metabolism_Homo sapiens_hsa002700.84193288
38Folate biosynthesis_Homo sapiens_hsa007900.81494626
39Propanoate metabolism_Homo sapiens_hsa006400.79479948
40Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.79151457
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.78542229
42Viral carcinogenesis_Homo sapiens_hsa052030.74951983
43Vitamin B6 metabolism_Homo sapiens_hsa007500.72278468
44Antigen processing and presentation_Homo sapiens_hsa046120.70619673
45Cardiac muscle contraction_Homo sapiens_hsa042600.68496592
46Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.67698954
47HTLV-I infection_Homo sapiens_hsa051660.60967055
48Steroid biosynthesis_Homo sapiens_hsa001000.60779116
49Biosynthesis of amino acids_Homo sapiens_hsa012300.60441361
50Cyanoamino acid metabolism_Homo sapiens_hsa004600.59907144
51Glutathione metabolism_Homo sapiens_hsa004800.59715598
52Drug metabolism - other enzymes_Homo sapiens_hsa009830.57167611
53Sulfur relay system_Homo sapiens_hsa041220.52126581
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.51493348
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.50946538
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.50395505
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.50191321
58Selenocompound metabolism_Homo sapiens_hsa004500.48273530
59Thyroid cancer_Homo sapiens_hsa052160.44411031
60Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.42535466
61Primary immunodeficiency_Homo sapiens_hsa053400.42285937
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41593652
63Legionellosis_Homo sapiens_hsa051340.41004012
64Sulfur metabolism_Homo sapiens_hsa009200.38403950
65Alzheimers disease_Homo sapiens_hsa050100.37449599
66MicroRNAs in cancer_Homo sapiens_hsa052060.36944875
67Small cell lung cancer_Homo sapiens_hsa052220.35385536
68Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.35273272
69Alcoholism_Homo sapiens_hsa050340.34278101
70Carbon metabolism_Homo sapiens_hsa012000.31980035
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.31792009
72Apoptosis_Homo sapiens_hsa042100.31671858
73Measles_Homo sapiens_hsa051620.31483753
74Transcriptional misregulation in cancer_Homo sapiens_hsa052020.31404789
75TGF-beta signaling pathway_Homo sapiens_hsa043500.30865317
76Peroxisome_Homo sapiens_hsa041460.30461411
77Metabolic pathways_Homo sapiens_hsa011000.29856360
78Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.28001791
79Basal cell carcinoma_Homo sapiens_hsa052170.27683389
80Fatty acid metabolism_Homo sapiens_hsa012120.27356607
81NF-kappa B signaling pathway_Homo sapiens_hsa040640.26837794
82Fructose and mannose metabolism_Homo sapiens_hsa000510.26782279
83NOD-like receptor signaling pathway_Homo sapiens_hsa046210.25828655
84Arachidonic acid metabolism_Homo sapiens_hsa005900.25002201
85Allograft rejection_Homo sapiens_hsa053300.24788990
86Intestinal immune network for IgA production_Homo sapiens_hsa046720.23198796
87N-Glycan biosynthesis_Homo sapiens_hsa005100.22753147
88Hepatitis B_Homo sapiens_hsa051610.22544007
89Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.22495070
90Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22431011
91Influenza A_Homo sapiens_hsa051640.22061586
92Butanoate metabolism_Homo sapiens_hsa006500.21781446
93Hippo signaling pathway_Homo sapiens_hsa043900.21774500
94Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.20137567
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.18515294
96Arginine biosynthesis_Homo sapiens_hsa002200.17275921
97Shigellosis_Homo sapiens_hsa051310.16850296
98Colorectal cancer_Homo sapiens_hsa052100.16730408
99Regulation of autophagy_Homo sapiens_hsa041400.15074068
100Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.14348307
101Collecting duct acid secretion_Homo sapiens_hsa049660.14086347
102Hematopoietic cell lineage_Homo sapiens_hsa046400.14006845
103Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.13147411
104RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.12890918
105SNARE interactions in vesicular transport_Homo sapiens_hsa041300.12070791
1062-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.12006554
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.11186908
108HIF-1 signaling pathway_Homo sapiens_hsa040660.10889857
109Pathways in cancer_Homo sapiens_hsa052000.10448652
110Graft-versus-host disease_Homo sapiens_hsa053320.10243683
111Asthma_Homo sapiens_hsa053100.10136709
112Notch signaling pathway_Homo sapiens_hsa043300.10132768
113Linoleic acid metabolism_Homo sapiens_hsa005910.09626707
114Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.09054498
115Hedgehog signaling pathway_Homo sapiens_hsa043400.08986869
116Galactose metabolism_Homo sapiens_hsa000520.08911627
117Pentose and glucuronate interconversions_Homo sapiens_hsa000400.08394246
118Autoimmune thyroid disease_Homo sapiens_hsa053200.08016608
119Arginine and proline metabolism_Homo sapiens_hsa003300.06395803
120Lysine degradation_Homo sapiens_hsa003100.05933260
121Tryptophan metabolism_Homo sapiens_hsa003800.05458863
122Vitamin digestion and absorption_Homo sapiens_hsa049770.02985369
123Tyrosine metabolism_Homo sapiens_hsa003500.02727347
124Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.0453012
125Vibrio cholerae infection_Homo sapiens_hsa05110-0.0125195

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