CENPH

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: Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)5.37811223
2telomere maintenance via semi-conservative replication (GO:0032201)5.27432156
3DNA replication checkpoint (GO:0000076)5.25652777
4DNA replication initiation (GO:0006270)5.19314765
5DNA strand elongation (GO:0022616)5.13755518
6telomere maintenance via recombination (GO:0000722)4.81507612
7* CENP-A containing nucleosome assembly (GO:0034080)4.75036302
8* chromatin remodeling at centromere (GO:0031055)4.70420268
9mitotic recombination (GO:0006312)4.62926722
10mitotic metaphase plate congression (GO:0007080)4.61214246
11DNA unwinding involved in DNA replication (GO:0006268)4.55722588
12protein localization to kinetochore (GO:0034501)4.48080539
13establishment of integrated proviral latency (GO:0075713)4.42122059
14DNA ligation (GO:0006266)4.38999858
15* kinetochore organization (GO:0051383)4.29568994
16* DNA replication-independent nucleosome assembly (GO:0006336)4.28834954
17* DNA replication-independent nucleosome organization (GO:0034724)4.28834954
18telomere maintenance via telomere lengthening (GO:0010833)4.27132483
19DNA deamination (GO:0045006)4.25492702
20metaphase plate congression (GO:0051310)4.10989288
21regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.10547647
22attachment of spindle microtubules to kinetochore (GO:0008608)4.09203196
23DNA topological change (GO:0006265)4.07038869
24nucleotide-excision repair, DNA gap filling (GO:0006297)4.05610121
25protein localization to chromosome, centromeric region (GO:0071459)4.04651628
26ribosomal small subunit assembly (GO:0000028)4.02961345
27nucleobase biosynthetic process (GO:0046112)3.94599223
28maturation of SSU-rRNA (GO:0030490)3.93094720
29* histone exchange (GO:0043486)3.86984005
30DNA replication-dependent nucleosome organization (GO:0034723)3.86377122
31DNA replication-dependent nucleosome assembly (GO:0006335)3.86377122
32purine nucleobase biosynthetic process (GO:0009113)3.83880146
33* kinetochore assembly (GO:0051382)3.81792877
34mitotic chromosome condensation (GO:0007076)3.81391457
35establishment of chromosome localization (GO:0051303)3.77189973
36heterochromatin organization (GO:0070828)3.77117440
37mitotic nuclear envelope disassembly (GO:0007077)3.76529672
38mitotic sister chromatid segregation (GO:0000070)3.73600838
39meiotic chromosome segregation (GO:0045132)3.68671322
40formation of translation preinitiation complex (GO:0001731)3.66566994
41mitotic sister chromatid cohesion (GO:0007064)3.63842952
42deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.61633780
43L-serine metabolic process (GO:0006563)3.55318375
44regulation of centriole replication (GO:0046599)3.53075899
45nuclear pore organization (GO:0006999)3.47577302
46regulation of nuclear cell cycle DNA replication (GO:0033262)3.47029122
47membrane disassembly (GO:0030397)3.45674688
48nuclear envelope disassembly (GO:0051081)3.45674688
49regulation of double-strand break repair via homologous recombination (GO:0010569)3.43841664
50ribosomal large subunit biogenesis (GO:0042273)3.43829021
51IMP biosynthetic process (GO:0006188)3.42865778
52sister chromatid segregation (GO:0000819)3.41922462
53establishment of viral latency (GO:0019043)3.39775460
54spindle checkpoint (GO:0031577)3.38173432
55transcription-coupled nucleotide-excision repair (GO:0006283)3.34853991
56DNA strand renaturation (GO:0000733)3.34227336
57regulation of spindle organization (GO:0090224)3.34022911
58nuclear pore complex assembly (GO:0051292)3.32289105
59telomere maintenance (GO:0000723)3.31037327
60spliceosomal snRNP assembly (GO:0000387)3.30856711
61negative regulation of mitotic sister chromatid separation (GO:2000816)3.30270522
62negative regulation of mitotic sister chromatid segregation (GO:0033048)3.30270522
63negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.30270522
64negative regulation of sister chromatid segregation (GO:0033046)3.30270522
65chromosome condensation (GO:0030261)3.30221204
66maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.30208203
67telomere organization (GO:0032200)3.30085296
68negative regulation of chromosome segregation (GO:0051985)3.29965773
69negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.29349005
70ribonucleoprotein complex biogenesis (GO:0022613)3.28543214
71ribosome biogenesis (GO:0042254)3.28134721
72viral transcription (GO:0019083)3.28100657
73negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.27961682
74spindle assembly checkpoint (GO:0071173)3.27335711
75translational termination (GO:0006415)3.27161956
76double-strand break repair via nonhomologous end joining (GO:0006303)3.24451249
77non-recombinational repair (GO:0000726)3.24451249
78* chromatin assembly or disassembly (GO:0006333)3.23662806
79proteasome assembly (GO:0043248)3.22944023
80ribosomal small subunit biogenesis (GO:0042274)3.22832676
81protein K6-linked ubiquitination (GO:0085020)3.22251017
82mismatch repair (GO:0006298)3.21700996
83ribosome assembly (GO:0042255)3.20446160
84regulation of mitotic metaphase/anaphase transition (GO:0030071)3.20371224
85folic acid-containing compound biosynthetic process (GO:0009396)3.20342368
86mitotic spindle assembly checkpoint (GO:0007094)3.20204932
87deoxyribonucleotide biosynthetic process (GO:0009263)3.19772456
88regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.18812104
89base-excision repair (GO:0006284)3.15562359
90chromosome segregation (GO:0007059)3.15275027
91regulation of chromosome segregation (GO:0051983)3.14952097
92positive regulation of chromosome segregation (GO:0051984)3.14121100
93mitotic spindle checkpoint (GO:0071174)3.12717330
94rRNA processing (GO:0006364)3.12501600
95negative regulation of mRNA processing (GO:0050686)3.12245189
96mitotic G2/M transition checkpoint (GO:0044818)3.11284694
97regulation of helicase activity (GO:0051095)3.09255916
98negative regulation of RNA splicing (GO:0033119)3.09119124
99somatic diversification of immune receptors via somatic mutation (GO:0002566)3.08673859
100somatic hypermutation of immunoglobulin genes (GO:0016446)3.08673859
101cell cycle G1/S phase transition (GO:0044843)3.07960488
102G1/S transition of mitotic cell cycle (GO:0000082)3.07960488
103regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.07131007
104chromatin assembly (GO:0031497)3.05836328
105protein localization to chromosome (GO:0034502)3.05127299
106* ATP-dependent chromatin remodeling (GO:0043044)3.04573661
107anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.04493764
108replication fork processing (GO:0031297)3.04415748
109regulation of mitotic sister chromatid separation (GO:0010965)3.03914005
110regulation of mitotic sister chromatid segregation (GO:0033047)3.03914005
111regulation of sister chromatid segregation (GO:0033045)3.03914005
112translational initiation (GO:0006413)3.02890244
113DNA geometric change (GO:0032392)3.02608060
114rRNA metabolic process (GO:0016072)3.02295594
115DNA duplex unwinding (GO:0032508)3.01978192
116regulation of centrosome cycle (GO:0046605)3.01598418
117pseudouridine synthesis (GO:0001522)3.01400081
118DNA replication (GO:0006260)3.00984568
119IMP metabolic process (GO:0046040)2.99164651
120translational elongation (GO:0006414)2.98591054
121DNA double-strand break processing (GO:0000729)2.97785784
122regulation of DNA endoreduplication (GO:0032875)2.97030071
123resolution of meiotic recombination intermediates (GO:0000712)2.96728100

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human4.74159568
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.30801627
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.22513184
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.64859043
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.43359542
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.42827566
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.01817975
8MYC_19079543_ChIP-ChIP_MESCs_Mouse2.90882869
9MYC_19030024_ChIP-ChIP_MESCs_Mouse2.83577265
10MYC_18358816_ChIP-ChIP_MESCs_Mouse2.79161691
11* GABP_17652178_ChIP-ChIP_JURKAT_Human2.76988962
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.76837093
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.68548554
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.58560621
15AR_21909140_ChIP-Seq_LNCAP_Human2.48056212
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.41923025
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.39376070
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.30879627
19MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.28897342
20* XRN2_22483619_ChIP-Seq_HELA_Human2.27390964
21* E2F1_21310950_ChIP-Seq_MCF-7_Human2.27154772
22VDR_23849224_ChIP-Seq_CD4+_Human2.20222784
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.10901155
24* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.08468857
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.03384678
26E2F7_22180533_ChIP-Seq_HELA_Human10.2128374
27* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.99545828
28NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.99324989
29DCP1A_22483619_ChIP-Seq_HELA_Human1.99079384
30FOXP3_21729870_ChIP-Seq_TREG_Human1.98778537
31ELF1_17652178_ChIP-ChIP_JURKAT_Human1.94602390
32MYCN_18555785_ChIP-Seq_MESCs_Mouse1.88606670
33* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.87646068
34TTF2_22483619_ChIP-Seq_HELA_Human1.85267967
35KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.81407533
36* GABP_19822575_ChIP-Seq_HepG2_Human1.80373706
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79155549
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.79065204
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.72648413
40SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.71642401
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70392254
42NANOG_18555785_ChIP-Seq_MESCs_Mouse1.69072414
43ELK1_19687146_ChIP-ChIP_HELA_Human1.68696937
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.64416774
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59492065
46YY1_21170310_ChIP-Seq_MESCs_Mouse1.54069842
47CIITA_25753668_ChIP-Seq_RAJI_Human1.52914065
48CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.51710315
49EGR1_19374776_ChIP-ChIP_THP-1_Human1.51079383
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.48438493
51TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.44749370
52* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.44223638
53TP63_19390658_ChIP-ChIP_HaCaT_Human1.42048041
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.41914782
55RBPJ_22232070_ChIP-Seq_NCS_Mouse1.39844877
56KDM5A_27292631_Chip-Seq_BREAST_Human1.37297802
57SRF_21415370_ChIP-Seq_HL-1_Mouse1.37143818
58SOX2_16153702_ChIP-ChIP_HESCs_Human1.34099490
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.31382425
60HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.26903112
61NANOG_16153702_ChIP-ChIP_HESCs_Human1.24622848
62E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.23082511
63SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.22808025
64PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21712058
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.21633881
66SOX2_18555785_ChIP-Seq_MESCs_Mouse1.21097451
67CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20912971
68FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.17018642
69POU5F1_16153702_ChIP-ChIP_HESCs_Human1.15816417
70MYC_18940864_ChIP-ChIP_HL60_Human1.15331073
71MYC_22102868_ChIP-Seq_BL_Human1.14910477
72* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.11081385
73ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.09825639
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.08060569
75SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.06928860
76KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06098187
77IRF1_19129219_ChIP-ChIP_H3396_Human1.03181327
78* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.00521670
79PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.99063051
80TFEB_21752829_ChIP-Seq_HELA_Human0.98715032
81NOTCH1_21737748_ChIP-Seq_TLL_Human0.97530517
82STAT3_1855785_ChIP-Seq_MESCs_Mouse0.97383305
83DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.97375118
84ESR1_15608294_ChIP-ChIP_MCF-7_Human0.96532789
85CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.96216535
86POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.96201487
87CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.92113112
88SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.91658886
89EWS_26573619_Chip-Seq_HEK293_Human0.90653505
90KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.87302171
91KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.87302171
92KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.87302171
93CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.86403858
94GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.85797071
95TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.84926074
96BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.84753117
97SALL1_21062744_ChIP-ChIP_HESCs_Human0.83701576
98SPI1_23547873_ChIP-Seq_NB4_Human0.81585902
99ELK1_22589737_ChIP-Seq_MCF10A_Human0.78430867
100VDR_21846776_ChIP-Seq_THP-1_Human0.76134329
101NANOG_21062744_ChIP-ChIP_HESCs_Human0.76029279
102CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.76022776
103CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.75850085
104HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.74840363
105CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.74457006
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.74292617
107* KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.73024004
108TCF3_18692474_ChIP-Seq_MEFs_Mouse0.72947357
109* SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.69276772
110NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.68072850
111CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.67702178
112SOX2_18692474_ChIP-Seq_MEFs_Mouse0.64912325
113HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.64466523
114SOX17_20123909_ChIP-Seq_XEN_Mouse0.63495602

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.77229599
2MP0010094_abnormal_chromosome_stability5.21879612
3MP0003111_abnormal_nucleus_morphology5.00731516
4MP0004957_abnormal_blastocyst_morpholog4.40726651
5MP0003077_abnormal_cell_cycle4.29804566
6MP0008057_abnormal_DNA_replication4.08889672
7MP0008058_abnormal_DNA_repair3.78094455
8MP0008932_abnormal_embryonic_tissue2.95865502
9MP0008007_abnormal_cellular_replicative2.95183215
10MP0002396_abnormal_hematopoietic_system2.53943016
11MP0003123_paternal_imprinting2.49612053
12MP0008877_abnormal_DNA_methylation2.42735536
13MP0000350_abnormal_cell_proliferation2.23860897
14MP0001730_embryonic_growth_arrest2.14776588
15MP0003718_maternal_effect2.09918802
16MP0003786_premature_aging2.06272000
17MP0000490_abnormal_crypts_of1.79586836
18MP0010307_abnormal_tumor_latency1.73343828
19MP0005380_embryogenesis_phenotype1.63090037
20MP0001672_abnormal_embryogenesis/_devel1.63090037
21MP0001697_abnormal_embryo_size1.60554517
22MP0006292_abnormal_olfactory_placode1.58815217
23MP0010030_abnormal_orbit_morphology1.56988471
24MP0000313_abnormal_cell_death1.51248427
25MP0003121_genomic_imprinting1.49831128
26MP0002085_abnormal_embryonic_tissue1.48443390
27MP0010352_gastrointestinal_tract_polyps1.46499570
28MP0002019_abnormal_tumor_incidence1.45147957
29MP0002210_abnormal_sex_determination1.44472471
30MP0002080_prenatal_lethality1.43853731
31MP0002697_abnormal_eye_size1.43765005
32MP0003984_embryonic_growth_retardation1.39929251
33MP0004808_abnormal_hematopoietic_stem1.35977506
34MP0002088_abnormal_embryonic_growth/wei1.34992323
35MP0002102_abnormal_ear_morphology1.33613099
36MP0003315_abnormal_perineum_morphology1.32984276
37MP0002009_preneoplasia1.28627638
38MP0003567_abnormal_fetal_cardiomyocyte1.27869348
39MP0002084_abnormal_developmental_patter1.26418695
40MP0001293_anophthalmia1.25455626
41MP0000566_synostosis1.22321846
42MP0002086_abnormal_extraembryonic_tissu1.21463013
43MP0001145_abnormal_male_reproductive1.20831842
44MP0005499_abnormal_olfactory_system1.19975241
45MP0005394_taste/olfaction_phenotype1.19975241
46MP0006035_abnormal_mitochondrial_morpho1.17865594
47MP0003890_abnormal_embryonic-extraembry1.16814606
48MP0004197_abnormal_fetal_growth/weight/1.15286482
49MP0001929_abnormal_gametogenesis1.11919506
50MP0000653_abnormal_sex_gland1.11253055
51MP0005397_hematopoietic_system_phenotyp1.10807121
52MP0001545_abnormal_hematopoietic_system1.10807121
53MP0001119_abnormal_female_reproductive1.09855458
54MP0001346_abnormal_lacrimal_gland1.09099420
55MP0001529_abnormal_vocalization1.08898102
56MP0002234_abnormal_pharynx_morphology1.08510585
57MP0009333_abnormal_splenocyte_physiolog1.06977269
58MP0003941_abnormal_skin_development1.06415522
59MP0006072_abnormal_retinal_apoptosis1.02931105
60MP0000703_abnormal_thymus_morphology1.02191569
61MP0002160_abnormal_reproductive_system1.02110349
62MP0003763_abnormal_thymus_physiology1.01215438
63MP0002233_abnormal_nose_morphology1.00972574
64MP0009053_abnormal_anal_canal0.94669561
65MP0003186_abnormal_redox_activity0.93909240
66MP0000428_abnormal_craniofacial_morphol0.93266935
67MP0003861_abnormal_nervous_system0.93035965
68MP0002398_abnormal_bone_marrow0.92101271
69MP0003937_abnormal_limbs/digits/tail_de0.90665070
70MP0006054_spinal_hemorrhage0.89797513
71MP0002132_abnormal_respiratory_system0.89493445
72MP0004147_increased_porphyrin_level0.89439006
73MP0000631_abnormal_neuroendocrine_gland0.89096970
74MP0003806_abnormal_nucleotide_metabolis0.87513946
75MP0002722_abnormal_immune_system0.87022791
76MP0005389_reproductive_system_phenotype0.82436234
77MP0009672_abnormal_birth_weight0.81631097
78MP0000689_abnormal_spleen_morphology0.81541527
79MP0009697_abnormal_copulation0.81380640
80MP0005076_abnormal_cell_differentiation0.78959938
81MP0000372_irregular_coat_pigmentation0.78649530
82MP0003119_abnormal_digestive_system0.78357760
83MP0002111_abnormal_tail_morphology0.78283440
84MP0003122_maternal_imprinting0.77399606
85MP0002163_abnormal_gland_morphology0.76639535
86MP0003221_abnormal_cardiomyocyte_apopto0.75556370
87MP0002938_white_spotting0.75549854
88MP0003755_abnormal_palate_morphology0.75242785
89MP0008789_abnormal_olfactory_epithelium0.75065798
90MP0001286_abnormal_eye_development0.74669619
91MP0000858_altered_metastatic_potential0.74393088
92MP0005391_vision/eye_phenotype0.74369007
93MP0005384_cellular_phenotype0.72439946
94MP0004133_heterotaxia0.71816798
95MP0002095_abnormal_skin_pigmentation0.71768082
96MP0002429_abnormal_blood_cell0.71148957
97MP0000358_abnormal_cell_content/0.70092815
98MP0000647_abnormal_sebaceous_gland0.67220859
99MP0001853_heart_inflammation0.66552630
100MP0001915_intracranial_hemorrhage0.65863768
101MP0005075_abnormal_melanosome_morpholog0.65678434
102MP0005621_abnormal_cell_physiology0.65335158
103MP0003136_yellow_coat_color0.64480444
104MP0003699_abnormal_female_reproductive0.63960399
105MP0009703_decreased_birth_body0.63436291
106MP0005501_abnormal_skin_physiology0.63348318
107MP0003385_abnormal_body_wall0.62774738
108MP0003942_abnormal_urinary_system0.62681915
109MP0001881_abnormal_mammary_gland0.61796165
110MP0002751_abnormal_autonomic_nervous0.61334992
111MP0000049_abnormal_middle_ear0.60585622
112MP0003935_abnormal_craniofacial_develop0.59079621
113MP0002092_abnormal_eye_morphology0.58692208
114MP0002075_abnormal_coat/hair_pigmentati0.58342539
115MP0000537_abnormal_urethra_morphology0.58339488
116MP0006036_abnormal_mitochondrial_physio0.58122544
117MP0003936_abnormal_reproductive_system0.57680085
118MP0001186_pigmentation_phenotype0.56080160
119MP0001919_abnormal_reproductive_system0.55931333
120MP0003938_abnormal_ear_development0.55166524
121MP0008995_early_reproductive_senescence0.54635602
122MP0000477_abnormal_intestine_morphology0.54582197
123MP0000716_abnormal_immune_system0.54545625
124MP0005174_abnormal_tail_pigmentation0.54376827
125MP0003698_abnormal_male_reproductive0.52228798
126MP0002161_abnormal_fertility/fecundity0.51062070
127MP0009379_abnormal_foot_pigmentation0.50366751
128MP0001188_hyperpigmentation0.49757171

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.79792004
2Chromsome breakage (HP:0040012)5.10666053
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.94245423
4Reticulocytopenia (HP:0001896)4.58714229
5Breast hypoplasia (HP:0003187)4.26793489
6Abnormality of chromosome stability (HP:0003220)3.96359715
7Meckel diverticulum (HP:0002245)3.90512256
8Patellar aplasia (HP:0006443)3.80747444
9Abnormality of the preputium (HP:0100587)3.77767369
10Abnormality of cells of the erythroid lineage (HP:0012130)3.76770473
11Abnormality of the ileum (HP:0001549)3.71696177
12Abnormal number of erythroid precursors (HP:0012131)3.67194021
13Aplasia/Hypoplasia of the uvula (HP:0010293)3.61322398
14Aplasia/Hypoplasia of the patella (HP:0006498)3.59593366
15Oral leukoplakia (HP:0002745)3.55602413
16Colon cancer (HP:0003003)3.37578519
17Aplastic anemia (HP:0001915)3.30905340
18Selective tooth agenesis (HP:0001592)3.21629352
19Duodenal stenosis (HP:0100867)3.21281263
20Small intestinal stenosis (HP:0012848)3.21281263
21Absent radius (HP:0003974)3.11385349
22Carpal bone hypoplasia (HP:0001498)3.07443363
23Degeneration of anterior horn cells (HP:0002398)2.99396626
24Abnormality of the anterior horn cell (HP:0006802)2.99396626
25Absent thumb (HP:0009777)2.98301427
26Medulloblastoma (HP:0002885)2.96398754
27Ectopic kidney (HP:0000086)2.95198495
28Aplasia involving forearm bones (HP:0009822)2.93128658
29Absent forearm bone (HP:0003953)2.93128658
30Myelodysplasia (HP:0002863)2.90132813
31Impulsivity (HP:0100710)2.82419391
32Duplicated collecting system (HP:0000081)2.78753939
33Bone marrow hypocellularity (HP:0005528)2.77565287
34Pallor (HP:0000980)2.74210170
35Cortical dysplasia (HP:0002539)2.73433884
36Macrocytic anemia (HP:0001972)2.70224704
37Rough bone trabeculation (HP:0100670)2.69502700
38Triphalangeal thumb (HP:0001199)2.69444444
39Abnormal number of incisors (HP:0011064)2.65065628
40Agnosia (HP:0010524)2.61212432
41Microretrognathia (HP:0000308)2.59977734
42Abnormality of the renal collecting system (HP:0004742)2.59909140
43Abnormality of the duodenum (HP:0002246)2.59810628
44Horseshoe kidney (HP:0000085)2.59109136
45Sloping forehead (HP:0000340)2.51504188
46Abnormal lung lobation (HP:0002101)2.51234021
47Premature graying of hair (HP:0002216)2.48063836
48Aplasia/Hypoplasia of the sacrum (HP:0008517)2.46280304
49Abnormality of the carotid arteries (HP:0005344)2.46138248
50Rhabdomyosarcoma (HP:0002859)2.45481747
51Clubbing of toes (HP:0100760)2.44737997
52Septo-optic dysplasia (HP:0100842)2.42889253
53Abnormality of the labia minora (HP:0012880)2.40205938
54Tracheoesophageal fistula (HP:0002575)2.37092386
55Supernumerary spleens (HP:0009799)2.37008349
56Abnormality of cochlea (HP:0000375)2.31526007
5711 pairs of ribs (HP:0000878)2.28870617
58Nephroblastoma (Wilms tumor) (HP:0002667)2.28252963
59Neoplasm of the pancreas (HP:0002894)2.28188260
60Volvulus (HP:0002580)2.24722719
61Abnormality of DNA repair (HP:0003254)2.24235398
62Ependymoma (HP:0002888)2.24167065
63Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.23440339
64Atresia of the external auditory canal (HP:0000413)2.22121006
65Short thumb (HP:0009778)2.21061454
66Multiple enchondromatosis (HP:0005701)2.17380878
67Microvesicular hepatic steatosis (HP:0001414)2.15825310
68Facial cleft (HP:0002006)2.11919030
69Hyperglycinemia (HP:0002154)2.11515001
70Pancytopenia (HP:0001876)2.11504290
71Embryonal renal neoplasm (HP:0011794)2.09951682
72Cleft eyelid (HP:0000625)2.08034781
73Cellular immunodeficiency (HP:0005374)2.07795474
74Hypoplastic pelvis (HP:0008839)2.06275880
75Cerebral hypomyelination (HP:0006808)2.05634257
76Increased nuchal translucency (HP:0010880)2.03889268
77Acute encephalopathy (HP:0006846)2.02244507
78Hypoplasia of the capital femoral epiphysis (HP:0003090)2.01588335
79Facial hemangioma (HP:0000329)2.01369129
80Slender long bone (HP:0003100)2.00819238
81Abnormality of the heme biosynthetic pathway (HP:0010472)1.99121611
82Abnormal trabecular bone morphology (HP:0100671)1.98365029
83Cafe-au-lait spot (HP:0000957)1.97216014
84Increased hepatocellular lipid droplets (HP:0006565)1.96738434
85Short middle phalanx of the 5th finger (HP:0004220)1.95157713
86Squamous cell carcinoma (HP:0002860)1.92933906
87Irregular epiphyses (HP:0010582)1.92425666
88Acute necrotizing encephalopathy (HP:0006965)1.91479642
89Lymphoma (HP:0002665)1.89905090
90Embryonal neoplasm (HP:0002898)1.89166960
91Abnormal spermatogenesis (HP:0008669)1.88247335
92Arteriovenous malformation (HP:0100026)1.85263474
93Morphological abnormality of the inner ear (HP:0011390)1.85259291
94Premature ovarian failure (HP:0008209)1.84731072
95Neoplasm of the colon (HP:0100273)1.83542636
96Absent septum pellucidum (HP:0001331)1.83107216
97Trismus (HP:0000211)1.81148384
98Lipid accumulation in hepatocytes (HP:0006561)1.79996619
99Abnormal mitochondria in muscle tissue (HP:0008316)1.79941626
100Choanal atresia (HP:0000453)1.79186741
101Prominent nose (HP:0000448)1.78375166
102Basal cell carcinoma (HP:0002671)1.78133716
103High anterior hairline (HP:0009890)1.77923690
104Abnormality of pyrimidine metabolism (HP:0004353)1.77025496
105Hypoplasia of the radius (HP:0002984)1.74998056
106Oligodactyly (HP:0012165)1.74898866
107High pitched voice (HP:0001620)1.72504277
108Aplasia/Hypoplasia of the sternum (HP:0006714)1.72441932
109Abnormality of reticulocytes (HP:0004312)1.72230358
110Secondary amenorrhea (HP:0000869)1.71706487
111Abnormality of the septum pellucidum (HP:0007375)1.71051811
112Type I transferrin isoform profile (HP:0003642)1.67123101
113Hypoplasia of the pons (HP:0012110)1.66295673
114Proximal placement of thumb (HP:0009623)1.66198002
115Aplasia/Hypoplasia of the earlobes (HP:0009906)1.64364227
116Megaloblastic anemia (HP:0001889)1.64082677
117Ureteral duplication (HP:0000073)1.62174454
118Duplication of thumb phalanx (HP:0009942)1.61199246
119Esophageal atresia (HP:0002032)1.60975219
120Thrombocytosis (HP:0001894)1.60505061
121Microtia (HP:0008551)1.60339039
122Acute lymphatic leukemia (HP:0006721)1.59919648
123Capillary hemangiomas (HP:0005306)1.59573205
124Abnormality of glycolysis (HP:0004366)1.58748349
125Stenosis of the external auditory canal (HP:0000402)1.58465170
126Breast aplasia (HP:0100783)1.58219687
127Oligodactyly (hands) (HP:0001180)1.58164238
128Increased serum pyruvate (HP:0003542)1.58079020
129Cerebral edema (HP:0002181)1.56951092
130Glioma (HP:0009733)1.56268060
131Abnormality of the pons (HP:0007361)1.56222900
132Hemivertebrae (HP:0002937)1.55549394
133Increased CSF lactate (HP:0002490)1.54741175
134Tetralogy of Fallot (HP:0001636)1.53222576
135Abnormality of abdominal situs (HP:0011620)1.50776313
136Abdominal situs inversus (HP:0003363)1.50776313
137Poikiloderma (HP:0001029)1.48712590

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.03055195
2CDC74.89656981
3WEE14.25744394
4VRK23.21111762
5EIF2AK13.17821929
6NEK22.93011631
7PLK42.90615736
8SRPK12.89741862
9TTK2.76902626
10STK162.35691935
11ACVR1B2.28731753
12PLK12.28314130
13VRK12.15960822
14BRSK22.14312708
15TAF12.11404481
16NEK12.10765964
17TLK12.06715883
18MKNK12.03887939
19NME21.95454007
20AURKB1.85373664
21ATR1.84619676
22EIF2AK31.77099171
23MKNK21.75908146
24DYRK31.74922571
25CDK71.73145902
26CHEK21.62496405
27CCNB11.59127639
28PLK31.58615316
29TSSK61.53353745
30BRSK11.52895780
31AURKA1.45408822
32RPS6KA41.44906949
33ZAK1.38247841
34TESK21.30549608
35CDK41.27591453
36PASK1.26442306
37STK41.23141107
38RPS6KB21.22897873
39SMG11.22319360
40CHEK11.17754991
41CDK81.15384372
42MAP3K81.15185491
43SCYL21.11419485
44BRAF1.08746195
45CDK121.06407935
46BCR1.02020640
47EIF2AK21.00922726
48PBK0.99648006
49BCKDK0.98562471
50TRIM280.96827850
51STK100.93311844
52ATM0.91387845
53PIM10.84431118
54PIM20.83702092
55CDK20.83156868
56PAK40.77094270
57MELK0.75460252
58CSNK2A10.72666942
59EPHA20.69798748
60STK38L0.69327623
61CSNK1G10.69235069
62CLK10.68168478
63CSNK1G30.66980287
64TGFBR10.66949151
65BRD40.66944901
66CDK10.66751491
67CSNK2A20.64734229
68MAP3K100.62183777
69STK30.59398572
70WNK30.58302089
71RPS6KA50.53848513
72CDK60.53204884
73PAK10.52801706
74CDK140.51257352
75CSNK1A1L0.51026549
76CDK150.51000234
77CDK180.50970513
78DYRK20.50752415
79CDK30.49116416
80CSNK1G20.48085559
81PRKCI0.47917970
82KDR0.43653056
83TEC0.43405812
84NME10.43009867
85LATS10.41810109
86MAP4K20.41529506
87MAP2K30.40176691
88FGFR10.39006428
89FLT30.38865129
90CDK190.37637711
91TAOK20.37408521
92MAP3K40.36151093
93PLK20.36122274
94BMPR1B0.35124568
95EEF2K0.35037725
96MAP3K110.34048110
97IRAK40.33919511
98PNCK0.33028075
99LRRK20.31158275
100MST40.30889773
101UHMK10.30678143
102MAP4K10.30537238
103ALK0.30341616
104LATS20.30109318
105BTK0.29837699
106PRKDC0.29812377
107CDK90.29780470
108AKT20.29415669
109ERBB40.28315143
110ABL20.28103767
111TNIK0.27856044
112MAPKAPK30.26082400
113MAP3K60.25620825
114YES10.25252378
115ERBB30.25087197
116IRAK30.23657725
117CSNK1E0.23044304
118NUAK10.22770073
119MAP2K70.22749243
120MAPK140.21566861
121AKT30.21558746
122AKT10.20812398
123NEK90.20242652
124STK240.16184469
125TESK10.15546012
126CDK11A0.14480357
127MAP3K50.13610847

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.61063478
2Mismatch repair_Homo sapiens_hsa034304.63084126
3Homologous recombination_Homo sapiens_hsa034403.61379973
4Base excision repair_Homo sapiens_hsa034103.42205570
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.39247950
6Ribosome_Homo sapiens_hsa030103.33274856
7Spliceosome_Homo sapiens_hsa030403.23514783
8RNA polymerase_Homo sapiens_hsa030203.16938956
9Nucleotide excision repair_Homo sapiens_hsa034203.11113404
10Proteasome_Homo sapiens_hsa030503.01989912
11Cell cycle_Homo sapiens_hsa041102.98435152
12RNA transport_Homo sapiens_hsa030132.94223833
13Fanconi anemia pathway_Homo sapiens_hsa034602.82197867
14Pyrimidine metabolism_Homo sapiens_hsa002402.65201366
15One carbon pool by folate_Homo sapiens_hsa006702.62693515
16Non-homologous end-joining_Homo sapiens_hsa034502.32356332
17Basal transcription factors_Homo sapiens_hsa030222.05712872
18RNA degradation_Homo sapiens_hsa030182.04086261
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.01241586
20p53 signaling pathway_Homo sapiens_hsa041151.70725547
21mRNA surveillance pathway_Homo sapiens_hsa030151.67252600
22Purine metabolism_Homo sapiens_hsa002301.42965319
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35649692
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.29730398
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.19608396
26Systemic lupus erythematosus_Homo sapiens_hsa053221.18792836
27Steroid biosynthesis_Homo sapiens_hsa001001.10285452
28Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.09684058
29Epstein-Barr virus infection_Homo sapiens_hsa051691.09189993
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.08547793
31Oocyte meiosis_Homo sapiens_hsa041141.03608731
32Pyruvate metabolism_Homo sapiens_hsa006201.02002316
33Propanoate metabolism_Homo sapiens_hsa006401.01812365
34Herpes simplex infection_Homo sapiens_hsa051680.93112268
35Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.87971820
36Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85919158
37Folate biosynthesis_Homo sapiens_hsa007900.84161036
38Protein export_Homo sapiens_hsa030600.82377682
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.81983602
40Fatty acid elongation_Homo sapiens_hsa000620.80117944
41Viral carcinogenesis_Homo sapiens_hsa052030.78518407
42Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72573587
43HTLV-I infection_Homo sapiens_hsa051660.71668521
44Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69545968
45Cysteine and methionine metabolism_Homo sapiens_hsa002700.68514933
46Antigen processing and presentation_Homo sapiens_hsa046120.65163035
47Drug metabolism - other enzymes_Homo sapiens_hsa009830.64304795
48Huntingtons disease_Homo sapiens_hsa050160.64237808
49Pentose phosphate pathway_Homo sapiens_hsa000300.64123538
50Selenocompound metabolism_Homo sapiens_hsa004500.59564018
51Alzheimers disease_Homo sapiens_hsa050100.58850047
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58750170
53MicroRNAs in cancer_Homo sapiens_hsa052060.57847102
54Vitamin B6 metabolism_Homo sapiens_hsa007500.53475084
55Glutathione metabolism_Homo sapiens_hsa004800.53470997
56Sulfur relay system_Homo sapiens_hsa041220.53376130
57Cyanoamino acid metabolism_Homo sapiens_hsa004600.53348260
58Small cell lung cancer_Homo sapiens_hsa052220.52597542
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52395637
60Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47857667
61Thyroid cancer_Homo sapiens_hsa052160.46713912
62Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.45134940
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45113366
64Biosynthesis of amino acids_Homo sapiens_hsa012300.44101590
65Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.43405127
66Legionellosis_Homo sapiens_hsa051340.41884126
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.40543705
68Lysine degradation_Homo sapiens_hsa003100.39067329
69Parkinsons disease_Homo sapiens_hsa050120.39056512
70Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38364496
71Apoptosis_Homo sapiens_hsa042100.38278259
72Alcoholism_Homo sapiens_hsa050340.38245366
73TGF-beta signaling pathway_Homo sapiens_hsa043500.36075866
74Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.35262982
75N-Glycan biosynthesis_Homo sapiens_hsa005100.34528087
76Primary immunodeficiency_Homo sapiens_hsa053400.34498536
77Hepatitis B_Homo sapiens_hsa051610.33773381
78Basal cell carcinoma_Homo sapiens_hsa052170.32895340
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32606962
80Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.32396056
81Fatty acid metabolism_Homo sapiens_hsa012120.32057104
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.31554308
83Measles_Homo sapiens_hsa051620.30340849
84Central carbon metabolism in cancer_Homo sapiens_hsa052300.29448717
85Hippo signaling pathway_Homo sapiens_hsa043900.28693375
86Colorectal cancer_Homo sapiens_hsa052100.27222059
87Hematopoietic cell lineage_Homo sapiens_hsa046400.26691682
88Cardiac muscle contraction_Homo sapiens_hsa042600.26200064
89Bladder cancer_Homo sapiens_hsa052190.24887622
90NF-kappa B signaling pathway_Homo sapiens_hsa040640.24361194
91NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22725616
92Arachidonic acid metabolism_Homo sapiens_hsa005900.22494871
93Shigellosis_Homo sapiens_hsa051310.22364085
94Notch signaling pathway_Homo sapiens_hsa043300.22311453
95Arginine and proline metabolism_Homo sapiens_hsa003300.21527625
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.21426835
97RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.21069237
98Metabolic pathways_Homo sapiens_hsa011000.21054594
99Influenza A_Homo sapiens_hsa051640.20304457
100Pathways in cancer_Homo sapiens_hsa052000.17981198
101Oxidative phosphorylation_Homo sapiens_hsa001900.17323445
102Hedgehog signaling pathway_Homo sapiens_hsa043400.15554634
103Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.15389826
104Butanoate metabolism_Homo sapiens_hsa006500.14214555
105Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.14177985
106Adherens junction_Homo sapiens_hsa045200.12505766
107Asthma_Homo sapiens_hsa053100.12249184
108Carbon metabolism_Homo sapiens_hsa012000.12041915
109Renin-angiotensin system_Homo sapiens_hsa046140.11886373
110Intestinal immune network for IgA production_Homo sapiens_hsa046720.10945378
111Prostate cancer_Homo sapiens_hsa052150.10692471
112Chronic myeloid leukemia_Homo sapiens_hsa052200.10179759
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.08799507
114Fructose and mannose metabolism_Homo sapiens_hsa000510.08791345
115Linoleic acid metabolism_Homo sapiens_hsa005910.07726842
116HIF-1 signaling pathway_Homo sapiens_hsa040660.07400082
117Galactose metabolism_Homo sapiens_hsa000520.06871843
118Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.05820392
119Allograft rejection_Homo sapiens_hsa053300.05440759
120Viral myocarditis_Homo sapiens_hsa054160.05146315
121Acute myeloid leukemia_Homo sapiens_hsa052210.03565930
122Wnt signaling pathway_Homo sapiens_hsa043100.03439019
123Melanoma_Homo sapiens_hsa052180.02986262
124Tight junction_Homo sapiens_hsa045300.02888452

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