POC1A

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: POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitotic metaphase plate congression (GO:0007080)5.09383494
2establishment of integrated proviral latency (GO:0075713)5.06191823
3DNA strand elongation involved in DNA replication (GO:0006271)4.80646819
4kinetochore organization (GO:0051383)4.78065473
5DNA replication checkpoint (GO:0000076)4.77132500
6telomere maintenance via semi-conservative replication (GO:0032201)4.71416799
7DNA replication initiation (GO:0006270)4.60536018
8CENP-A containing nucleosome assembly (GO:0034080)4.58982323
9DNA strand elongation (GO:0022616)4.53801645
10kinetochore assembly (GO:0051382)4.49337605
11protein localization to kinetochore (GO:0034501)4.47874052
12chromatin remodeling at centromere (GO:0031055)4.47217939
13metaphase plate congression (GO:0051310)4.37926276
14establishment of chromosome localization (GO:0051303)4.34713433
15telomere maintenance via recombination (GO:0000722)4.29776247
16establishment of viral latency (GO:0019043)4.28194251
17protein localization to chromosome, centromeric region (GO:0071459)4.27647495
18attachment of spindle microtubules to kinetochore (GO:0008608)4.23293555
19mitotic sister chromatid segregation (GO:0000070)4.22833677
20DNA deamination (GO:0045006)4.22213799
21mitotic chromosome condensation (GO:0007076)4.10967907
22regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.05181082
23mitotic recombination (GO:0006312)4.02464428
24DNA replication-independent nucleosome assembly (GO:0006336)3.99300118
25DNA replication-independent nucleosome organization (GO:0034724)3.99300118
26regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.94883491
27histone exchange (GO:0043486)3.83269430
28meiotic chromosome segregation (GO:0045132)3.81920755
29regulation of spindle organization (GO:0090224)3.80875398
30telomere maintenance via telomere lengthening (GO:0010833)3.75966546
31DNA topological change (GO:0006265)3.74761225
32chromosome condensation (GO:0030261)3.73413118
33ribosomal small subunit assembly (GO:0000028)3.69504062
34DNA unwinding involved in DNA replication (GO:0006268)3.69414216
35sister chromatid segregation (GO:0000819)3.67745774
36maturation of SSU-rRNA (GO:0030490)3.67634500
37DNA replication-dependent nucleosome organization (GO:0034723)3.63635489
38DNA replication-dependent nucleosome assembly (GO:0006335)3.63635489
39mitotic nuclear envelope disassembly (GO:0007077)3.63339993
40spindle checkpoint (GO:0031577)3.59519316
41proteasome assembly (GO:0043248)3.59253760
42nucleotide-excision repair, DNA gap filling (GO:0006297)3.58363438
43L-serine metabolic process (GO:0006563)3.56396498
44anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.47780821
45protein K6-linked ubiquitination (GO:0085020)3.47257787
46nuclear pore complex assembly (GO:0051292)3.46669217
47positive regulation of chromosome segregation (GO:0051984)3.46230259
48nucleobase biosynthetic process (GO:0046112)3.43297476
49ribosome assembly (GO:0042255)3.40622701
50regulation of chromosome segregation (GO:0051983)3.40478497
51microtubule depolymerization (GO:0007019)3.40096051
52ribosomal large subunit biogenesis (GO:0042273)3.36938095
53nucleobase-containing small molecule interconversion (GO:0015949)3.36754848
54spliceosomal snRNP assembly (GO:0000387)3.35701050
55negative regulation of chromosome segregation (GO:0051985)3.35591710
56negative regulation of mitotic sister chromatid separation (GO:2000816)3.34297946
57negative regulation of mitotic sister chromatid segregation (GO:0033048)3.34297946
58negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.34297946
59negative regulation of sister chromatid segregation (GO:0033046)3.34297946
60protein complex localization (GO:0031503)3.33778008
61negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.31094466
62chromosome segregation (GO:0007059)3.29126359
63heterochromatin organization (GO:0070828)3.28915833
64spindle assembly checkpoint (GO:0071173)3.28604353
65regulation of mitotic spindle organization (GO:0060236)3.28330786
66regulation of double-strand break repair via homologous recombination (GO:0010569)3.28134091
67rRNA modification (GO:0000154)3.28053019
68nuclear envelope disassembly (GO:0051081)3.27472685
69membrane disassembly (GO:0030397)3.27472685
70deoxyribonucleotide biosynthetic process (GO:0009263)3.26968173
71ribosome biogenesis (GO:0042254)3.26347737
72DNA packaging (GO:0006323)3.25888952
73mitotic spindle checkpoint (GO:0071174)3.25867808
74regulation of centrosome cycle (GO:0046605)3.25762526
75mitotic spindle assembly checkpoint (GO:0007094)3.25599485
76transcription-coupled nucleotide-excision repair (GO:0006283)3.24794661
77regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.24659254
78negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.23506889
79chromatin assembly or disassembly (GO:0006333)3.23026195
80regulation of mitotic metaphase/anaphase transition (GO:0030071)3.22568051
81purine nucleobase biosynthetic process (GO:0009113)3.22280648
82maturation of 5.8S rRNA (GO:0000460)3.22229265
83spliceosomal complex assembly (GO:0000245)3.22177143
84ribonucleoprotein complex biogenesis (GO:0022613)3.21587033
85regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.20359223
86formation of translation preinitiation complex (GO:0001731)3.18425606
87regulation of exit from mitosis (GO:0007096)3.17000029
88IMP biosynthetic process (GO:0006188)3.16459110
89rRNA processing (GO:0006364)3.15877709
90mitotic sister chromatid cohesion (GO:0007064)3.15861661
91DNA ligation (GO:0006266)3.15584181
92positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.12591437
93transcription elongation from RNA polymerase III promoter (GO:0006385)3.11343222
94termination of RNA polymerase III transcription (GO:0006386)3.11343222
95non-recombinational repair (GO:0000726)3.10625871
96double-strand break repair via nonhomologous end joining (GO:0006303)3.10625871
977-methylguanosine mRNA capping (GO:0006370)3.09989200
98ATP-dependent chromatin remodeling (GO:0043044)3.09674168
99regulation of mitochondrial translation (GO:0070129)3.09541608
100protein localization to chromosome (GO:0034502)3.09021790
101base-excision repair (GO:0006284)3.08742381
102nuclear pore organization (GO:0006999)3.06032839
103rRNA metabolic process (GO:0016072)3.05868259
104RNA capping (GO:0036260)3.05591593
1057-methylguanosine RNA capping (GO:0009452)3.05591593
106ribosomal small subunit biogenesis (GO:0042274)3.05529850
107regulation of mitotic sister chromatid separation (GO:0010965)3.04724555
108regulation of mitotic sister chromatid segregation (GO:0033047)3.04724555
109regulation of sister chromatid segregation (GO:0033045)3.04724555
110cell cycle G1/S phase transition (GO:0044843)3.04538021
111G1/S transition of mitotic cell cycle (GO:0000082)3.04538021
112viral transcription (GO:0019083)3.00677749
113mitotic cell cycle (GO:0000278)3.00378783
114mismatch repair (GO:0006298)2.99804202
115negative regulation of mitosis (GO:0045839)2.98347965
116translational termination (GO:0006415)2.97970837
117deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.97808866
118negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.97522643
119negative regulation of ligase activity (GO:0051352)2.97522643
120regulation of sister chromatid cohesion (GO:0007063)2.95363756
121regulation of spindle checkpoint (GO:0090231)2.93596597
122regulation of centriole replication (GO:0046599)2.93530713
123exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.93141875
124folic acid-containing compound biosynthetic process (GO:0009396)2.91970702

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.72509977
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.35501443
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.12082400
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.05819554
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.94472022
6FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.93186755
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.30519588
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.30103043
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.17186105
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.06202376
11GABP_17652178_ChIP-ChIP_JURKAT_Human3.04598036
12ETS1_20019798_ChIP-Seq_JURKAT_Human3.02051234
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.88507887
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.88362312
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.86277028
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.85090425
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74236403
18SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.63538484
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.59218991
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55501490
21AR_21909140_ChIP-Seq_LNCAP_Human2.42102541
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.40442721
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.40009592
24VDR_23849224_ChIP-Seq_CD4+_Human2.31106889
25XRN2_22483619_ChIP-Seq_HELA_Human2.26663549
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.19063845
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.17298587
28MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.13412486
29DCP1A_22483619_ChIP-Seq_HELA_Human2.07564488
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.05827462
31* FOXP3_21729870_ChIP-Seq_TREG_Human2.00436418
32E2F1_18555785_ChIP-Seq_MESCs_Mouse2.00172676
33ELF1_17652178_ChIP-ChIP_JURKAT_Human1.94107964
34E2F1_21310950_ChIP-Seq_MCF-7_Human1.93593311
35THAP11_20581084_ChIP-Seq_MESCs_Mouse1.93483601
36TTF2_22483619_ChIP-Seq_HELA_Human1.86095042
37GABP_19822575_ChIP-Seq_HepG2_Human1.83904703
38MYCN_18555785_ChIP-Seq_MESCs_Mouse1.82506817
39YY1_21170310_ChIP-Seq_MESCs_Mouse1.81689649
40SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.74903616
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.73801301
42* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.58812386
43POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.57180076
44ELK1_19687146_ChIP-ChIP_HELA_Human1.56332120
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56091362
46SRF_21415370_ChIP-Seq_HL-1_Mouse1.55239711
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.53647850
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.46756481
49ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.46406685
50KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.42427266
51CIITA_25753668_ChIP-Seq_RAJI_Human1.37836254
52KDM5A_27292631_Chip-Seq_BREAST_Human1.35808657
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.32468258
54TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.30894929
55E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.28584307
56PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.28191939
57FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.27058908
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.22899497
59ZFX_18555785_ChIP-Seq_MESCs_Mouse1.19329657
60ZNF263_19887448_ChIP-Seq_K562_Human1.19324620
61POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.19099071
62MYC_18940864_ChIP-ChIP_HL60_Human1.19042953
63* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17275791
64TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.15010383
65* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.12289738
66SOX2_18555785_ChIP-Seq_MESCs_Mouse1.11210380
67CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.10304297
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.09139859
69PADI4_21655091_ChIP-ChIP_MCF-7_Human1.04837898
70SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.03354980
71TP63_19390658_ChIP-ChIP_HaCaT_Human1.02998057
72HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.01762758
73PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.01488870
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.00338987
75DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.97984095
76ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.97433722
77KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.96855682
78SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.94514237
79TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94124709
80IRF1_19129219_ChIP-ChIP_H3396_Human0.93879020
81ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.93581868
82DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.92026803
83STAT3_1855785_ChIP-Seq_MESCs_Mouse0.91896691
84CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.90446319
85CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.89832252
86VDR_21846776_ChIP-Seq_THP-1_Human0.88702138
87CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.87510283
88HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.87381522
89PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.86863018
90SPI1_23547873_ChIP-Seq_NB4_Human0.86792574
91BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.86029977
92POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.83399828
93MYC_22102868_ChIP-Seq_BL_Human0.82183419
94TFEB_21752829_ChIP-Seq_HELA_Human0.82068328
95GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.79022781
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.78860179
97FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76797665
98KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.75927129
99CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.75410318
100NOTCH1_21737748_ChIP-Seq_TLL_Human0.74941274
101RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.72965412
102* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.72667618
103ELK1_22589737_ChIP-Seq_MCF10A_Human0.72220886
104NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.71170554
105CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.68972158
106* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.66823422
107CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.66601718
108EGR1_19374776_ChIP-ChIP_THP-1_Human0.66560473
109TBX5_21415370_ChIP-Seq_HL-1_Mouse0.65713493
110TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.65589160
111SOX17_20123909_ChIP-Seq_XEN_Mouse0.64313853
112NANOG_21062744_ChIP-ChIP_HESCs_Human0.63853639

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.29724553
2MP0003111_abnormal_nucleus_morphology5.27592011
3MP0010094_abnormal_chromosome_stability5.17097904
4MP0004957_abnormal_blastocyst_morpholog4.44480063
5MP0003077_abnormal_cell_cycle4.37058279
6MP0008057_abnormal_DNA_replication3.64220522
7MP0008058_abnormal_DNA_repair3.42043010
8MP0008932_abnormal_embryonic_tissue2.97791265
9MP0003718_maternal_effect2.95027769
10MP0008877_abnormal_DNA_methylation2.89072910
11MP0008007_abnormal_cellular_replicative2.83979172
12MP0002396_abnormal_hematopoietic_system2.25242539
13MP0010030_abnormal_orbit_morphology2.19217498
14MP0009697_abnormal_copulation2.16648227
15MP0003123_paternal_imprinting2.06295008
16MP0000350_abnormal_cell_proliferation2.03728409
17MP0003786_premature_aging2.02273932
18MP0002877_abnormal_melanocyte_morpholog2.00700675
19MP0001730_embryonic_growth_arrest1.95140471
20MP0006292_abnormal_olfactory_placode1.89917246
21MP0000490_abnormal_crypts_of1.87461918
22MP0003705_abnormal_hypodermis_morpholog1.77928200
23MP0002210_abnormal_sex_determination1.75992206
24MP0001929_abnormal_gametogenesis1.67358663
25MP0002102_abnormal_ear_morphology1.61687695
26MP0009672_abnormal_birth_weight1.48731552
27MP0003315_abnormal_perineum_morphology1.47509866
28MP0009333_abnormal_splenocyte_physiolog1.47261967
29MP0003136_yellow_coat_color1.46431720
30MP0003941_abnormal_skin_development1.45375391
31MP0002132_abnormal_respiratory_system1.45264724
32MP0000313_abnormal_cell_death1.44390904
33MP0001145_abnormal_male_reproductive1.42282675
34MP0001672_abnormal_embryogenesis/_devel1.41781328
35MP0005380_embryogenesis_phenotype1.41781328
36MP0002019_abnormal_tumor_incidence1.41531388
37MP0001697_abnormal_embryo_size1.38873629
38MP0003656_abnormal_erythrocyte_physiolo1.37196798
39MP0010307_abnormal_tumor_latency1.36473506
40MP0000653_abnormal_sex_gland1.35296255
41MP0004147_increased_porphyrin_level1.33807295
42MP0002080_prenatal_lethality1.32291403
43MP0002085_abnormal_embryonic_tissue1.28590174
44MP0010352_gastrointestinal_tract_polyps1.22428595
45MP0005501_abnormal_skin_physiology1.21686939
46MP0008260_abnormal_autophagy1.19768744
47MP0003984_embryonic_growth_retardation1.16807713
48MP0002160_abnormal_reproductive_system1.16799448
49MP0003186_abnormal_redox_activity1.15205201
50MP0005257_abnormal_intraocular_pressure1.14639329
51MP0004233_abnormal_muscle_weight1.12670326
52MP0005410_abnormal_fertilization1.11224423
53MP0002088_abnormal_embryonic_growth/wei1.10082154
54MP0005389_reproductive_system_phenotype1.07495061
55MP0003698_abnormal_male_reproductive1.07492575
56MP0005451_abnormal_body_composition1.07162914
57MP0001119_abnormal_female_reproductive1.06116968
58MP0003950_abnormal_plasma_membrane1.03282303
59MP0003121_genomic_imprinting1.03258154
60MP0000537_abnormal_urethra_morphology1.03128972
61MP0002653_abnormal_ependyma_morphology1.02958158
62MP0004808_abnormal_hematopoietic_stem1.01894590
63MP0001529_abnormal_vocalization1.00709198
64MP0003763_abnormal_thymus_physiology1.00207459
65MP0002398_abnormal_bone_marrow0.99611780
66MP0002697_abnormal_eye_size0.98186868
67MP0000703_abnormal_thymus_morphology0.97707291
68MP0005076_abnormal_cell_differentiation0.97586242
69MP0002722_abnormal_immune_system0.96902214
70MP0001919_abnormal_reproductive_system0.96535532
71MP0000689_abnormal_spleen_morphology0.95945619
72MP0003938_abnormal_ear_development0.93988715
73MP0000372_irregular_coat_pigmentation0.93901033
74MP0001293_anophthalmia0.92341049
75MP0002084_abnormal_developmental_patter0.90533609
76MP0001346_abnormal_lacrimal_gland0.90374826
77MP0002161_abnormal_fertility/fecundity0.89541688
78MP0001545_abnormal_hematopoietic_system0.89108457
79MP0005397_hematopoietic_system_phenotyp0.89108457
80MP0004133_heterotaxia0.88675149
81MP0004185_abnormal_adipocyte_glucose0.86265751
82MP0003699_abnormal_female_reproductive0.85946589
83MP0003937_abnormal_limbs/digits/tail_de0.84478658
84MP0002086_abnormal_extraembryonic_tissu0.83158416
85MP0001849_ear_inflammation0.81375148
86MP0002429_abnormal_blood_cell0.81288173
87MP0002095_abnormal_skin_pigmentation0.80980818
88MP0002796_impaired_skin_barrier0.80856199
89MP0002163_abnormal_gland_morphology0.80587832
90MP0005075_abnormal_melanosome_morpholog0.80327786
91MP0001727_abnormal_embryo_implantation0.79041533
92MP0000015_abnormal_ear_pigmentation0.78970194
93MP0003566_abnormal_cell_adhesion0.78293364
94MP0002092_abnormal_eye_morphology0.78015850
95MP0001286_abnormal_eye_development0.77819314
96MP0005395_other_phenotype0.77331858
97MP0000566_synostosis0.76068771
98MP0005623_abnormal_meninges_morphology0.74284362
99MP0001661_extended_life_span0.74116899
100MP0009379_abnormal_foot_pigmentation0.73191369
101MP0006036_abnormal_mitochondrial_physio0.71518278
102MP0009703_decreased_birth_body0.70263402
103MP0000358_abnormal_cell_content/0.70170291
104MP0005384_cellular_phenotype0.69805684
105MP0002060_abnormal_skin_morphology0.67327144
106MP0000716_abnormal_immune_system0.67004345
107MP0003567_abnormal_fetal_cardiomyocyte0.65983368
108MP0002234_abnormal_pharynx_morphology0.65813215
109MP0002938_white_spotting0.65435001
110MP0000762_abnormal_tongue_morphology0.65407586
111MP0001881_abnormal_mammary_gland0.64370074
112MP0003646_muscle_fatigue0.64163400
113MP0004197_abnormal_fetal_growth/weight/0.63695020
114MP0008789_abnormal_olfactory_epithelium0.63438272
115MP0001485_abnormal_pinna_reflex0.63184525
116MP0005621_abnormal_cell_physiology0.62746228
117MP0001905_abnormal_dopamine_level0.62354548
118MP0001986_abnormal_taste_sensitivity0.61475034
119MP0000428_abnormal_craniofacial_morphol0.61342502
120MP0002111_abnormal_tail_morphology0.60914376
121MP0004381_abnormal_hair_follicle0.60666818
122MP0000049_abnormal_middle_ear0.59408957
123MP0005408_hypopigmentation0.58803438
124MP0002233_abnormal_nose_morphology0.57543209
125MP0000678_abnormal_parathyroid_gland0.57278221
126MP0000858_altered_metastatic_potential0.56457863
127MP0001853_heart_inflammation0.56391377
128MP0003221_abnormal_cardiomyocyte_apopto0.54952647
129MP0001188_hyperpigmentation0.54942513
130MP0009053_abnormal_anal_canal0.54921208
131MP0005174_abnormal_tail_pigmentation0.54762958
132MP0003861_abnormal_nervous_system0.54106951
133MP0001186_pigmentation_phenotype0.52485939
134MP0006035_abnormal_mitochondrial_morpho0.51082281
135MP0003806_abnormal_nucleotide_metabolis0.50956301
136MP0002420_abnormal_adaptive_immunity0.49217981
137MP0002075_abnormal_coat/hair_pigmentati0.48831978

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.48112099
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.19267000
3Chromsome breakage (HP:0040012)5.12686483
4Reticulocytopenia (HP:0001896)4.25466428
5Cerebral hypomyelination (HP:0006808)3.86625837
6Abnormal number of erythroid precursors (HP:0012131)3.81544926
7Duplicated collecting system (HP:0000081)3.80335444
8* Breast hypoplasia (HP:0003187)3.77355782
9Meckel diverticulum (HP:0002245)3.72759591
10Abnormality of cells of the erythroid lineage (HP:0012130)3.69898575
11Abnormality of the preputium (HP:0100587)3.68253456
12Patellar aplasia (HP:0006443)3.68243377
13Abnormality of the ileum (HP:0001549)3.50261244
14Aplasia/Hypoplasia of the patella (HP:0006498)3.47601421
15Abnormality of the renal collecting system (HP:0004742)3.38197894
16Abnormality of chromosome stability (HP:0003220)3.35695399
17Carpal bone hypoplasia (HP:0001498)3.29678987
18Oral leukoplakia (HP:0002745)3.26727777
19Increased nuchal translucency (HP:0010880)3.23564234
20Aplasia/Hypoplasia of the uvula (HP:0010293)3.21341229
21Hypoplasia of the capital femoral epiphysis (HP:0003090)3.19308551
22Multiple enchondromatosis (HP:0005701)3.11524779
23Small intestinal stenosis (HP:0012848)3.09369024
24Duodenal stenosis (HP:0100867)3.09369024
25Absent radius (HP:0003974)3.08726015
26Rough bone trabeculation (HP:0100670)2.99891381
27Bone marrow hypocellularity (HP:0005528)2.91598433
28Absent forearm bone (HP:0003953)2.86731163
29Aplasia involving forearm bones (HP:0009822)2.86731163
30Sloping forehead (HP:0000340)2.84026239
31Abnormal lung lobation (HP:0002101)2.81546291
32Microvesicular hepatic steatosis (HP:0001414)2.80739380
33Myelodysplasia (HP:0002863)2.79090768
34Premature graying of hair (HP:0002216)2.78033044
35Impulsivity (HP:0100710)2.73936541
36* Aplasia/Hypoplasia of the sacrum (HP:0008517)2.70846374
37Aplastic anemia (HP:0001915)2.70725405
38Macrocytic anemia (HP:0001972)2.70451896
39Horseshoe kidney (HP:0000085)2.70055925
40Premature ovarian failure (HP:0008209)2.67577037
41Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.67105620
42Supernumerary spleens (HP:0009799)2.64250705
43Pallor (HP:0000980)2.63798139
44Ectopic kidney (HP:0000086)2.57474352
45Progressive muscle weakness (HP:0003323)2.55837139
46Cortical dysplasia (HP:0002539)2.54074507
47Triphalangeal thumb (HP:0001199)2.52338521
48Abnormal mitochondria in muscle tissue (HP:0008316)2.50317173
49Absent thumb (HP:0009777)2.48560590
50Selective tooth agenesis (HP:0001592)2.44993946
51Acute necrotizing encephalopathy (HP:0006965)2.43097483
52Abnormality of the duodenum (HP:0002246)2.41481946
53Cholecystitis (HP:0001082)2.40295318
54Abnormal gallbladder physiology (HP:0012438)2.40295318
55Colon cancer (HP:0003003)2.40182713
56Acute encephalopathy (HP:0006846)2.40155873
57Abnormality of the heme biosynthetic pathway (HP:0010472)2.39655355
58Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.38214883
59Absent epiphyses (HP:0010577)2.38214883
60Ependymoma (HP:0002888)2.37129074
61Abnormality of the anterior horn cell (HP:0006802)2.34655286
62Degeneration of anterior horn cells (HP:0002398)2.34655286
63CNS hypomyelination (HP:0003429)2.32893995
64Abnormality of the labia minora (HP:0012880)2.32699706
65Ureteral duplication (HP:0000073)2.32380729
66Abnormal trabecular bone morphology (HP:0100671)2.31590126
67Broad distal phalanx of finger (HP:0009836)2.30652957
68Clubbing of toes (HP:0100760)2.29806092
69Secondary amenorrhea (HP:0000869)2.28771217
70Microretrognathia (HP:0000308)2.23113521
71Nephroblastoma (Wilms tumor) (HP:0002667)2.21758537
72Type I transferrin isoform profile (HP:0003642)2.20876749
73Pancytopenia (HP:0001876)2.18222406
74Proximal placement of thumb (HP:0009623)2.17103118
75Tracheoesophageal fistula (HP:0002575)2.13947660
76Squamous cell carcinoma (HP:0002860)2.13412043
77Reduced antithrombin III activity (HP:0001976)2.12728205
78Cleft eyelid (HP:0000625)2.12626048
7911 pairs of ribs (HP:0000878)2.07401847
80Cafe-au-lait spot (HP:0000957)2.07265060
81Deviation of the thumb (HP:0009603)2.05778718
82Agnosia (HP:0010524)2.05561204
83Embryonal renal neoplasm (HP:0011794)2.03489841
84Abnormality of DNA repair (HP:0003254)2.01857507
85Facial cleft (HP:0002006)1.99594076
86Pulmonary fibrosis (HP:0002206)1.98465358
87Abnormality of glycolysis (HP:0004366)1.97182420
88Increased serum pyruvate (HP:0003542)1.97182420
89Short thumb (HP:0009778)1.97142624
90Rhabdomyosarcoma (HP:0002859)1.95574054
91Abnormality of the carotid arteries (HP:0005344)1.95131411
92Neoplasm of the pancreas (HP:0002894)1.94143533
93Abnormal umbilical cord blood vessels (HP:0011403)1.94101958
94Single umbilical artery (HP:0001195)1.94101958
95Abnormality of the fetal cardiovascular system (HP:0010948)1.94101958
96Abnormal number of incisors (HP:0011064)1.93514427
97Increased CSF lactate (HP:0002490)1.93413597
98Cellular immunodeficiency (HP:0005374)1.93355251
99Pancreatic fibrosis (HP:0100732)1.92319441
100Increased serum lactate (HP:0002151)1.91250902
101Breast aplasia (HP:0100783)1.90753611
102Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.90105932
103Mitochondrial inheritance (HP:0001427)1.89781047
104Megaloblastic anemia (HP:0001889)1.88545510
105Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.87466655
106Irregular epiphyses (HP:0010582)1.85271485
107Medulloblastoma (HP:0002885)1.85085007
108Cerebral edema (HP:0002181)1.84833365
109Pancreatic cysts (HP:0001737)1.84730080
110Choanal atresia (HP:0000453)1.84283889
111Ragged-red muscle fibers (HP:0003200)1.81960906
112Increased hepatocellular lipid droplets (HP:0006565)1.81762857
113Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.81351161
114Decreased activity of mitochondrial respiratory chain (HP:0008972)1.81351161
115Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.79975578
116Neoplasm of the colon (HP:0100273)1.79407269
117Aplasia/Hypoplasia of the earlobes (HP:0009906)1.79060431
118Duplication of thumb phalanx (HP:0009942)1.78692703
119Sparse eyelashes (HP:0000653)1.78151793
120Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.77935816
121Abnormal protein N-linked glycosylation (HP:0012347)1.77935816
122Abnormal protein glycosylation (HP:0012346)1.77935816
123Abnormal glycosylation (HP:0012345)1.77935816
124Exercise intolerance (HP:0003546)1.77902497
125Hypopigmented skin patches (HP:0001053)1.77265790
126Trismus (HP:0000211)1.77030926
127Abnormalities of placenta or umbilical cord (HP:0001194)1.76880388
128Exertional dyspnea (HP:0002875)1.76520102
129Hepatocellular necrosis (HP:0001404)1.75605043
130Dynein arm defect of respiratory motile cilia (HP:0012255)1.74349512
131Absent/shortened dynein arms (HP:0200106)1.74349512
132Spastic diplegia (HP:0001264)1.74255946
133Atresia of the external auditory canal (HP:0000413)1.73747321
134Hypoplasia of the radius (HP:0002984)1.73627150
1353-Methylglutaconic aciduria (HP:0003535)1.72074183
136Anencephaly (HP:0002323)1.71992585
137Abnormality of the umbilical cord (HP:0010881)1.70192849
138Abnormality of pyrimidine metabolism (HP:0004353)1.69869470
139Asplenia (HP:0001746)1.68736401
140Thrombocytosis (HP:0001894)1.68324044

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.91073185
2CDC73.99000019
3WEE13.97730013
4VRK23.74625825
5EIF2AK13.44235920
6SRPK13.09985111
7PLK43.07387223
8STK162.88783050
9TTK2.85345582
10NEK22.71388780
11TLK12.35579106
12SMG12.25668787
13PLK12.16248179
14TESK22.11946597
15MKNK11.88603778
16CCNB11.86701914
17EIF2AK31.86369227
18BRSK21.85650218
19VRK11.80613775
20NME21.72766924
21MKNK21.70326283
22AURKB1.66465968
23BRAF1.66318212
24AURKA1.65455527
25TAF11.64493108
26CHEK21.64210634
27TSSK61.51747915
28CLK11.42544089
29BRSK11.40951452
30CDK71.40531005
31PBK1.38697476
32PLK31.36468938
33ATR1.32768151
34NEK11.32029900
35PRPF4B1.27893234
36ACVR1B1.27402699
37ZAK1.23487316
38STK41.22556380
39STK101.19127745
40DYRK31.11916722
41RPS6KA41.11322495
42CDK191.11283039
43MAP3K81.10948883
44CHEK11.02386118
45CDK81.00204348
46MST1R0.98676982
47EIF2AK20.96915180
48RPS6KB20.92524833
49MAP3K100.92219273
50CDK40.92181693
51BLK0.84732711
52PAK10.84514430
53TRIM280.81983168
54PIM20.76272515
55MELK0.75506080
56EEF2K0.75388955
57NUAK10.72048764
58TESK10.67869245
59ATM0.67217348
60NME10.67154586
61CDK20.66895818
62CSNK2A10.63959946
63EPHA20.61487039
64PASK0.61206964
65PAK40.60644767
66BCKDK0.58377473
67CDK10.56853384
68RPS6KA50.56269455
69CSNK2A20.55303172
70PDK20.55092259
71PIM10.54329281
72AKT30.54138278
73PNCK0.53288702
74ARAF0.53159144
75TAOK20.53052147
76ALK0.52489598
77DYRK20.52123843
78CASK0.51378625
79MAPKAPK50.50085737
80MET0.47910911
81ERBB40.47559023
82MAP3K110.46597329
83RAF10.45500701
84AKT20.45202762
85PRKCI0.43867913
86ICK0.43187135
87MAP4K10.43128144
88MARK30.42645019
89STK30.42517586
90CDK11A0.40980142
91FLT30.40674146
92CDK120.39028953
93CDK150.38310860
94CDK30.37925254
95CDK180.36820174
96CDK90.36813645
97BRD40.36416261
98IRAK30.34602314
99IRAK40.34005920
100LIMK10.32253409
101PTK20.30946941
102MAP3K60.29626588
103ILK0.27664571
104CDK140.27653871
105PRKDC0.27226715
106CSNK1G10.27210896
107YES10.26730784
108ABL20.25893473
109LRRK20.25341473
110STK38L0.24948777
111SCYL20.24732415
112KDR0.24466779
113TRIB30.24042967
114DAPK30.23540762
115MST40.22877797
116CSNK1G30.20719531
117TEC0.19641008
118MAPKAPK30.19617661
119PDK30.19040562
120PDK40.19040562
121DAPK10.18309924
122LATS10.18107304
123LYN0.17894974
124FES0.16446027
125CSNK1E0.16222676

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.12865347
2Mismatch repair_Homo sapiens_hsa034304.21058018
3RNA polymerase_Homo sapiens_hsa030203.56330624
4Homologous recombination_Homo sapiens_hsa034403.51167562
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.37150234
6Ribosome_Homo sapiens_hsa030103.33861103
7Proteasome_Homo sapiens_hsa030503.31260264
8Base excision repair_Homo sapiens_hsa034103.22988916
9Spliceosome_Homo sapiens_hsa030403.09820697
10Nucleotide excision repair_Homo sapiens_hsa034203.00723091
11Cell cycle_Homo sapiens_hsa041102.91384514
12RNA transport_Homo sapiens_hsa030132.81511582
13Fanconi anemia pathway_Homo sapiens_hsa034602.73314870
14Pyrimidine metabolism_Homo sapiens_hsa002402.55673379
15Basal transcription factors_Homo sapiens_hsa030222.48211496
16One carbon pool by folate_Homo sapiens_hsa006702.40065576
17Non-homologous end-joining_Homo sapiens_hsa034502.15014068
18RNA degradation_Homo sapiens_hsa030181.97186923
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.93235632
20Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.76077033
21Vitamin B6 metabolism_Homo sapiens_hsa007501.74589597
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.56935956
23Purine metabolism_Homo sapiens_hsa002301.50008597
24p53 signaling pathway_Homo sapiens_hsa041151.47197617
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.45848349
26mRNA surveillance pathway_Homo sapiens_hsa030151.44790429
27Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.38961934
28Pyruvate metabolism_Homo sapiens_hsa006201.20273521
29Oocyte meiosis_Homo sapiens_hsa041141.15597659
30Fatty acid elongation_Homo sapiens_hsa000621.09855545
31Systemic lupus erythematosus_Homo sapiens_hsa053221.07960066
32Epstein-Barr virus infection_Homo sapiens_hsa051691.07802927
33Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.04227764
34Protein export_Homo sapiens_hsa030601.01630344
35Cyanoamino acid metabolism_Homo sapiens_hsa004601.00099158
36Huntingtons disease_Homo sapiens_hsa050160.96699160
37Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.94814678
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.88169991
39Cysteine and methionine metabolism_Homo sapiens_hsa002700.87271306
40Pentose phosphate pathway_Homo sapiens_hsa000300.86744988
41Oxidative phosphorylation_Homo sapiens_hsa001900.82846283
42Folate biosynthesis_Homo sapiens_hsa007900.82696382
43Herpes simplex infection_Homo sapiens_hsa051680.80337549
44Parkinsons disease_Homo sapiens_hsa050120.79994234
45Glutathione metabolism_Homo sapiens_hsa004800.76681592
46Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.75943827
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.73752108
48Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70156999
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.69560872
50Arachidonic acid metabolism_Homo sapiens_hsa005900.68644661
51Sulfur relay system_Homo sapiens_hsa041220.66003152
52Viral carcinogenesis_Homo sapiens_hsa052030.65215758
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.64826261
54Galactose metabolism_Homo sapiens_hsa000520.64734888
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60118953
56Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54626403
57HTLV-I infection_Homo sapiens_hsa051660.53574883
58Primary immunodeficiency_Homo sapiens_hsa053400.51389274
59Antigen processing and presentation_Homo sapiens_hsa046120.50725645
60Biosynthesis of amino acids_Homo sapiens_hsa012300.49971388
61Lysine degradation_Homo sapiens_hsa003100.49662303
62Central carbon metabolism in cancer_Homo sapiens_hsa052300.45330191
63Linoleic acid metabolism_Homo sapiens_hsa005910.42823420
64Propanoate metabolism_Homo sapiens_hsa006400.42813039
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.40818256
66Ether lipid metabolism_Homo sapiens_hsa005650.40798158
67Shigellosis_Homo sapiens_hsa051310.40789852
68Selenocompound metabolism_Homo sapiens_hsa004500.37817256
69Metabolic pathways_Homo sapiens_hsa011000.35809009
70Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.35511447
71Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34503533
72Fatty acid metabolism_Homo sapiens_hsa012120.32897685
73Drug metabolism - other enzymes_Homo sapiens_hsa009830.31834346
74Alcoholism_Homo sapiens_hsa050340.31226877
75MicroRNAs in cancer_Homo sapiens_hsa052060.30663263
76Alzheimers disease_Homo sapiens_hsa050100.30515207
77Asthma_Homo sapiens_hsa053100.29932664
78Sphingolipid metabolism_Homo sapiens_hsa006000.27878613
79Hepatitis B_Homo sapiens_hsa051610.27639197
80Apoptosis_Homo sapiens_hsa042100.27160856
81Regulation of autophagy_Homo sapiens_hsa041400.27050011
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.26150397
83Basal cell carcinoma_Homo sapiens_hsa052170.26117690
84alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26089752
85Thyroid cancer_Homo sapiens_hsa052160.25472181
86Transcriptional misregulation in cancer_Homo sapiens_hsa052020.25202872
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24835981
88RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.23331973
89NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22987912
90Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.22456826
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.22297497
92Hematopoietic cell lineage_Homo sapiens_hsa046400.21565182
93Measles_Homo sapiens_hsa051620.20314510
94Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.20191339
95Adherens junction_Homo sapiens_hsa045200.19745850
96Legionellosis_Homo sapiens_hsa051340.18922613
97Other glycan degradation_Homo sapiens_hsa005110.17773671
98Sulfur metabolism_Homo sapiens_hsa009200.17422984
99Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.17312446
100Intestinal immune network for IgA production_Homo sapiens_hsa046720.17154981
101Carbon metabolism_Homo sapiens_hsa012000.17013856
102Pentose and glucuronate interconversions_Homo sapiens_hsa000400.16311243
103Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.16228392
104Fructose and mannose metabolism_Homo sapiens_hsa000510.16050990
105Arginine and proline metabolism_Homo sapiens_hsa003300.16032670
106Small cell lung cancer_Homo sapiens_hsa052220.15496639
107Autoimmune thyroid disease_Homo sapiens_hsa053200.13724390
108TGF-beta signaling pathway_Homo sapiens_hsa043500.13649236
109Chronic myeloid leukemia_Homo sapiens_hsa052200.13431964
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.13369049
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.13237191
112Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.12953077
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.12869225
114Wnt signaling pathway_Homo sapiens_hsa043100.12631078
115Influenza A_Homo sapiens_hsa051640.12434571
116Prostate cancer_Homo sapiens_hsa052150.12201779
117NF-kappa B signaling pathway_Homo sapiens_hsa040640.10181342
118Hippo signaling pathway_Homo sapiens_hsa043900.09132814
119N-Glycan biosynthesis_Homo sapiens_hsa005100.08240264
120Allograft rejection_Homo sapiens_hsa053300.07897664
121Bladder cancer_Homo sapiens_hsa052190.07300202
122Renin-angiotensin system_Homo sapiens_hsa046140.06538846
123Colorectal cancer_Homo sapiens_hsa052100.06186490
124Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.05886924
125SNARE interactions in vesicular transport_Homo sapiens_hsa041300.05280874
126Notch signaling pathway_Homo sapiens_hsa043300.04138327
127Vitamin digestion and absorption_Homo sapiens_hsa049770.04080368
128Steroid biosynthesis_Homo sapiens_hsa001000.02975288

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