POT1

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





Description: This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ventricular trabecula myocardium morphogenesis (GO:0003222)7.55425421
2DNA damage response, detection of DNA damage (GO:0042769)7.50134587
3negative regulation of cardiac muscle cell apoptotic process (GO:0010667)6.67918596
4heart trabecula morphogenesis (GO:0061384)6.03670452
5DNA replication checkpoint (GO:0000076)5.89664901
6artery development (GO:0060840)5.50580033
7positive regulation of response to oxidative stress (GO:1902884)5.24192412
8positive regulation of cellular response to oxidative stress (GO:1900409)5.24192412
9intra-S DNA damage checkpoint (GO:0031573)5.06643135
10trabecula morphogenesis (GO:0061383)4.84672334
11lymphangiogenesis (GO:0001946)4.64414643
12embryonic foregut morphogenesis (GO:0048617)4.54744394
13nuclear pore complex assembly (GO:0051292)4.50422997
14negative regulation of striated muscle cell apoptotic process (GO:0010664)4.47180214
15interkinetic nuclear migration (GO:0022027)4.38468294
16response to ischemia (GO:0002931)4.36026661
17ventricular cardiac muscle cell development (GO:0055015)4.32702266
18CENP-A containing nucleosome assembly (GO:0034080)4.28724016
19single strand break repair (GO:0000012)4.26883571
20cell adhesion mediated by integrin (GO:0033627)4.17902209
21histone-serine phosphorylation (GO:0035404)4.14423825
22nuclear pore organization (GO:0006999)4.08294129
23chromatin remodeling at centromere (GO:0031055)4.04067826
24regulation of cardiac muscle cell apoptotic process (GO:0010665)3.97580206
25gastrulation with mouth forming second (GO:0001702)3.96335221
26protein localization to lysosome (GO:0061462)3.83833357
27protein localization to vacuole (GO:0072665)3.83833357
28regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.80325818
29organ growth (GO:0035265)3.74485000
30protein localization to kinetochore (GO:0034501)3.67127627
31cardiac right ventricle morphogenesis (GO:0003215)3.65202581
32chromosome condensation (GO:0030261)3.65176854
33replication fork processing (GO:0031297)3.58549921
34activin receptor signaling pathway (GO:0032924)3.57276111
35endothelial cell differentiation (GO:0045446)3.56529719
36kinetochore organization (GO:0051383)3.49603536
37cullin deneddylation (GO:0010388)3.45014873
38histone exchange (GO:0043486)3.44621063
39maturation of 5.8S rRNA (GO:0000460)3.41368806
40positive regulation of histone H3-K4 methylation (GO:0051571)3.40473345
41brain morphogenesis (GO:0048854)3.39107095
42mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.35653852
43mitochondrial respiratory chain complex I assembly (GO:0032981)3.35653852
44NADH dehydrogenase complex assembly (GO:0010257)3.35653852
45heterochromatin organization (GO:0070828)3.28678706
46resolution of meiotic recombination intermediates (GO:0000712)3.24506989
47renal system development (GO:0072001)3.22107575
48pore complex assembly (GO:0046931)3.21031678
49regulation of protein heterodimerization activity (GO:0043497)3.20270598
50DNA catabolic process, exonucleolytic (GO:0000738)3.17330648
51heart field specification (GO:0003128)3.15326412
52secondary heart field specification (GO:0003139)3.15326412
53DNA replication-independent nucleosome assembly (GO:0006336)3.15080324
54DNA replication-independent nucleosome organization (GO:0034724)3.15080324
55L-serine metabolic process (GO:0006563)3.14289752
56maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.13513079
57negative regulation of DNA repair (GO:0045738)3.12952422
58cerebral cortex neuron differentiation (GO:0021895)3.12942035
59pancreas development (GO:0031016)3.12652478
60protein localization to chromosome, centromeric region (GO:0071459)3.12429851
61DNA ligation (GO:0006266)3.10785375
62regulation of striated muscle cell apoptotic process (GO:0010662)3.10148544
63positive regulation of TOR signaling (GO:0032008)3.09761224
64telomere maintenance via semi-conservative replication (GO:0032201)3.09595733
65kinetochore assembly (GO:0051382)3.09021579
66DNA packaging (GO:0006323)3.08047280
67sister chromatid segregation (GO:0000819)3.08037226
68mitotic nuclear envelope disassembly (GO:0007077)3.07661452
69mitotic sister chromatid segregation (GO:0000070)3.01967453
70response to acidic pH (GO:0010447)2.95554265
71regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.95097593
72cell migration in hindbrain (GO:0021535)2.94091685
73protein deneddylation (GO:0000338)2.92905089
74mitotic metaphase plate congression (GO:0007080)2.92547690
75hemidesmosome assembly (GO:0031581)2.90810517
76mitotic G2/M transition checkpoint (GO:0044818)2.90532183
77mitotic sister chromatid cohesion (GO:0007064)2.88378320
78activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.86908624
79nuclear envelope disassembly (GO:0051081)2.86873901
80membrane disassembly (GO:0030397)2.86873901
81nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)2.86186571
82DNA strand elongation involved in DNA replication (GO:0006271)2.85981162
83apoptotic DNA fragmentation (GO:0006309)2.85966036
84mitotic recombination (GO:0006312)2.82563450
85serine family amino acid biosynthetic process (GO:0009070)2.82243036
86negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.79454927
87spermatid nucleus differentiation (GO:0007289)2.75062661
88metaphase plate congression (GO:0051310)2.75038785
89regulation of smooth muscle cell differentiation (GO:0051150)2.73042213
90DNA strand elongation (GO:0022616)2.72572688
91telomere maintenance via recombination (GO:0000722)2.72005885
92regulation of centriole replication (GO:0046599)2.72002071
93negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.70445697
94regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.69069350
95regulation of mitotic spindle checkpoint (GO:1903504)2.69069350
96synapsis (GO:0007129)2.68518006
97superoxide anion generation (GO:0042554)2.68475183
98ATP-dependent chromatin remodeling (GO:0043044)2.68373754
99DNA double-strand break processing (GO:0000729)2.68215538
100DNA damage induced protein phosphorylation (GO:0006975)12.3125162

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.03348853
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse6.80782623
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.90871084
4ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.74649874
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.55831832
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.31788549
7* HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse3.11614325
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.01965245
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.76706811
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.59848858
11ELK1_19687146_ChIP-ChIP_HELA_Human2.43541697
12KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.37275628
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.31617088
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.20962855
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.19471567
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.14196427
17* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.12295164
18AR_21909140_ChIP-Seq_LNCAP_Human2.06003155
19* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.01460891
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.95820572
21FUS_26573619_Chip-Seq_HEK293_Human1.95357084
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90738393
23PADI4_21655091_ChIP-ChIP_MCF-7_Human1.90738251
24* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.88759280
25HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.85674901
26GBX2_23144817_ChIP-Seq_PC3_Human1.81153366
27SALL1_21062744_ChIP-ChIP_HESCs_Human1.69283797
28DCP1A_22483619_ChIP-Seq_HELA_Human1.68271157
29* EWS_26573619_Chip-Seq_HEK293_Human1.67963809
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.66329349
31MYC_18940864_ChIP-ChIP_HL60_Human1.66108328
32IGF1R_20145208_ChIP-Seq_DFB_Human1.60725653
33YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60675423
34TAF15_26573619_Chip-Seq_HEK293_Human1.57001315
35VDR_23849224_ChIP-Seq_CD4+_Human1.55968385
36CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.51991774
37MYCN_18555785_ChIP-Seq_MESCs_Mouse1.43991019
38E2F1_21310950_ChIP-Seq_MCF-7_Human1.38108692
39MYC_19030024_ChIP-ChIP_MESCs_Mouse1.37502153
40ZNF274_21170338_ChIP-Seq_K562_Hela1.36623302
41* FOXP3_21729870_ChIP-Seq_TREG_Human1.35043602
42NELFA_20434984_ChIP-Seq_ESCs_Mouse1.34198630
43MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.31600221
44ETS1_20019798_ChIP-Seq_JURKAT_Human1.31566179
45ELF1_17652178_ChIP-ChIP_JURKAT_Human1.28175924
46ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.26792038
47HOXB4_20404135_ChIP-ChIP_EML_Mouse1.25377205
48* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.24764677
49THAP11_20581084_ChIP-Seq_MESCs_Mouse1.23229345
50EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.21056812
51JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.19781135
52EGR1_19374776_ChIP-ChIP_THP-1_Human1.19778535
53E2F1_18555785_ChIP-Seq_MESCs_Mouse1.19694309
54MYC_18358816_ChIP-ChIP_MESCs_Mouse1.19350395
55TP63_17297297_ChIP-ChIP_HaCaT_Human1.18601952
56MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.16710497
57TP63_19390658_ChIP-ChIP_HaCaT_Human1.14320018
58GABP_19822575_ChIP-Seq_HepG2_Human1.13439628
59WT1_19549856_ChIP-ChIP_CCG9911_Human1.11184320
60ZFX_18555785_ChIP-Seq_MESCs_Mouse1.10271689
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.09969769
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.07506276
63GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06686110
64SALL4_22934838_ChIP-ChIP_CD34+_Human1.05413764
65NOTCH1_21737748_ChIP-Seq_TLL_Human1.04461077
66SRF_21415370_ChIP-Seq_HL-1_Mouse0.98780553
67POU5F1_16153702_ChIP-ChIP_HESCs_Human0.98715302
68MYC_19079543_ChIP-ChIP_MESCs_Mouse0.97396924
69VDR_22108803_ChIP-Seq_LS180_Human0.96454745
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96342754
71POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.95415916
72POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.93744148
73TP53_16413492_ChIP-PET_HCT116_Human0.92575225
74CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.92038840
75IRF1_19129219_ChIP-ChIP_H3396_Human0.91026163
76* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.90624785
77ER_23166858_ChIP-Seq_MCF-7_Human0.90575536
78ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.89631643
79ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.89301320
80TFEB_21752829_ChIP-Seq_HELA_Human0.88934398
81CTBP1_25329375_ChIP-Seq_LNCAP_Human0.88573890
82TTF2_22483619_ChIP-Seq_HELA_Human0.88557785
83* STAT3_23295773_ChIP-Seq_U87_Human0.88064273
84KDM5A_27292631_Chip-Seq_BREAST_Human0.85032799
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84311203
86OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83996442
87BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.83361807
88MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.81947545
89CBX2_27304074_Chip-Seq_ESCs_Mouse0.81872270
90P300_19829295_ChIP-Seq_ESCs_Human0.81198516
91SOX2_16153702_ChIP-ChIP_HESCs_Human0.80996065
92E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.80619500
93SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.80412244
94NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.77138870
95CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.76072328
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75188991
97ERG_20887958_ChIP-Seq_HPC-7_Mouse0.74705433
98CMYC_18555785_Chip-Seq_ESCs_Mouse0.74535957
99PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.71926044
100CTBP2_25329375_ChIP-Seq_LNCAP_Human0.71195968

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009697_abnormal_copulation3.96759461
2MP0002163_abnormal_gland_morphology3.89710598
3MP0004133_heterotaxia3.75504632
4MP0008057_abnormal_DNA_replication3.60238280
5MP0004270_analgesia3.40264286
6MP0010094_abnormal_chromosome_stability3.21723054
7MP0003693_abnormal_embryo_hatching3.08634663
8MP0003890_abnormal_embryonic-extraembry3.02666082
9MP0003880_abnormal_central_pattern2.97078218
10MP0008058_abnormal_DNA_repair2.88674458
11MP0003077_abnormal_cell_cycle2.75542550
12MP0008775_abnormal_heart_ventricle2.69163687
13MP0006276_abnormal_autonomic_nervous2.54409614
14MP0003806_abnormal_nucleotide_metabolis2.52177136
15MP0004957_abnormal_blastocyst_morpholog2.40702351
16MP0005379_endocrine/exocrine_gland_phen2.30505444
17MP0004272_abnormal_basement_membrane2.25971450
18MP0003111_abnormal_nucleus_morphology2.24706052
19MP0008932_abnormal_embryonic_tissue2.22444281
20MP0002102_abnormal_ear_morphology2.09476045
21MP0003195_calcinosis2.04054689
22MP0004147_increased_porphyrin_level2.03243729
23MP0002127_abnormal_cardiovascular_syste1.93152570
24MP0000647_abnormal_sebaceous_gland1.78547600
25MP0008007_abnormal_cellular_replicative1.72117457
26MP0010352_gastrointestinal_tract_polyps1.56406122
27MP0006072_abnormal_retinal_apoptosis1.56309950
28MP0008995_early_reproductive_senescence1.52624259
29MP0005595_abnormal_vascular_smooth1.52512323
30MP0001529_abnormal_vocalization1.44289286
31MP0005646_abnormal_pituitary_gland1.42049576
32MP0003221_abnormal_cardiomyocyte_apopto1.39472330
33MP0008877_abnormal_DNA_methylation1.38692086
34MP0001697_abnormal_embryo_size1.34379309
35MP0002233_abnormal_nose_morphology1.31356307
36MP0000631_abnormal_neuroendocrine_gland1.29632685
37MP0002084_abnormal_developmental_patter1.28722941
38MP0010307_abnormal_tumor_latency1.28189267
39MP0005330_cardiomyopathy1.27717942
40MP0005171_absent_coat_pigmentation1.22890087
41MP0009672_abnormal_birth_weight1.22425391
42MP0003186_abnormal_redox_activity1.21537453
43MP0002396_abnormal_hematopoietic_system1.17570737
44MP0003763_abnormal_thymus_physiology1.17316106
45MP0001730_embryonic_growth_arrest1.17272949
46MP0000749_muscle_degeneration1.11766049
47MP0006035_abnormal_mitochondrial_morpho1.09303881
48MP0003786_premature_aging1.03929799
49MP0005380_embryogenesis_phenotype1.03644457
50MP0001672_abnormal_embryogenesis/_devel1.03644457
51MP0003718_maternal_effect1.01523062
52MP0002111_abnormal_tail_morphology1.01263735
53MP0002085_abnormal_embryonic_tissue0.99993205
54MP0004145_abnormal_muscle_electrophysio0.98775585
55MP0000358_abnormal_cell_content/0.98649626
56MP0000372_irregular_coat_pigmentation0.98054492
57MP0006036_abnormal_mitochondrial_physio0.98029334
58MP0006054_spinal_hemorrhage0.97507085
59MP0000350_abnormal_cell_proliferation0.97202079
60MP0004811_abnormal_neuron_physiology0.93761966
61MP0005395_other_phenotype0.92887966
62MP0003937_abnormal_limbs/digits/tail_de0.91966970
63MP0002210_abnormal_sex_determination0.91703614
64MP0000313_abnormal_cell_death0.91440772
65MP0002168_other_aberrant_phenotype0.91436975
66MP0002972_abnormal_cardiac_muscle0.89548953
67MP0000778_abnormal_nervous_system0.88611790
68MP0001929_abnormal_gametogenesis0.88141256
69MP0009703_decreased_birth_body0.86841430
70MP0002080_prenatal_lethality0.86762477
71MP0004883_abnormal_blood_vessel0.86456925
72MP0003984_embryonic_growth_retardation0.86444537
73MP0004197_abnormal_fetal_growth/weight/0.85060743
74MP0002088_abnormal_embryonic_growth/wei0.84726606
75MP0009250_abnormal_appendicular_skeleto0.82289332
76MP0000465_gastrointestinal_hemorrhage0.81775608
77MP0002751_abnormal_autonomic_nervous0.80308704
78MP0003121_genomic_imprinting0.77078759
79MP0005645_abnormal_hypothalamus_physiol0.76742165
80MP0004484_altered_response_of0.76486383
81MP0003448_altered_tumor_morphology0.74372393
82MP0001764_abnormal_homeostasis0.70776016
83MP0005075_abnormal_melanosome_morpholog0.70000511
84MP0004808_abnormal_hematopoietic_stem0.69631069
85MP0000653_abnormal_sex_gland0.68850254
86MP0005266_abnormal_metabolism0.68052634
87MP0005332_abnormal_amino_acid0.67133563
88MP0000428_abnormal_craniofacial_morphol0.65883076
89MP0001145_abnormal_male_reproductive0.65435764
90MP0010630_abnormal_cardiac_muscle0.65140820
91MP0003699_abnormal_female_reproductive0.64160425
92MP0001119_abnormal_female_reproductive0.63476466
93MP0001324_abnormal_eye_pigmentation0.62171451
94MP0005385_cardiovascular_system_phenoty0.61552846
95MP0001544_abnormal_cardiovascular_syste0.61552846
96MP0004084_abnormal_cardiac_muscle0.61413390
97MP0000427_abnormal_hair_cycle0.60473291
98MP0003861_abnormal_nervous_system0.59793545
99MP0000432_abnormal_head_morphology0.59636371
100MP0005195_abnormal_posterior_eye0.58818148

Predicted human phenotypes

RankGene SetZ-score
1Increased serum pyruvate (HP:0003542)7.43512951
2Esophageal atresia (HP:0002032)7.19244227
3Abnormality of glycolysis (HP:0004366)6.80438293
4Abnormality of the aortic arch (HP:0012303)6.45982825
5Aplasia cutis congenita (HP:0001057)6.33471099
6Gastrointestinal atresia (HP:0002589)5.14160314
7Duodenal stenosis (HP:0100867)3.87762775
8Small intestinal stenosis (HP:0012848)3.87762775
9Hypokinesia (HP:0002375)3.73859551
10Ragged-red muscle fibers (HP:0003200)3.56281921
11Chromsome breakage (HP:0040012)3.51776857
12Ureteral stenosis (HP:0000071)3.43247014
13Increased connective tissue (HP:0009025)3.42139444
14Ureteral obstruction (HP:0006000)3.42124196
15Pterygium (HP:0001059)3.35326602
16Curly hair (HP:0002212)3.33463268
17Abnormality of the duodenum (HP:0002246)3.32589046
18Atrioventricular canal defect (HP:0006695)3.27527414
19Papillary thyroid carcinoma (HP:0002895)3.25606914
20Ectropion (HP:0000656)3.22690422
21Abnormality of chromosome stability (HP:0003220)3.13237166
22Milia (HP:0001056)3.00666543
23Chromosomal breakage induced by crosslinking agents (HP:0003221)2.97860299
24Chronic hepatic failure (HP:0100626)2.96077610
25Aplasia/Hypoplasia of the uvula (HP:0010293)2.94398322
26Tetraplegia (HP:0002445)2.82543419
27Hyperventilation (HP:0002883)2.75200887
28Thyroid carcinoma (HP:0002890)2.72654923
29Fragile skin (HP:0001030)2.70254227
30Rhabdomyosarcoma (HP:0002859)2.60858995
31Atrophic scars (HP:0001075)2.59701303
32Colon cancer (HP:0003003)2.55429770
33Microvesicular hepatic steatosis (HP:0001414)2.53876968
34Cortical dysplasia (HP:0002539)2.50298838
35Embryonal renal neoplasm (HP:0011794)2.42411593
36Abnormality of the labia minora (HP:0012880)2.40127892
37Increased CSF lactate (HP:0002490)2.38624493
38Cystic hygroma (HP:0000476)2.34355527
39Nephroblastoma (Wilms tumor) (HP:0002667)2.28987972
40Abnormality of the ileum (HP:0001549)2.28537696
41Meckel diverticulum (HP:0002245)2.26796697
42Hepatocellular necrosis (HP:0001404)2.24278614
43High anterior hairline (HP:0009890)2.21684367
44Atonic seizures (HP:0010819)2.19132492
45Abnormality of the prostate (HP:0008775)2.15706250
46Blue irides (HP:0000635)2.14954034
47Abnormality of pain sensation (HP:0010832)2.10190487
48Impaired pain sensation (HP:0007328)2.10190487
49Abnormality of the preputium (HP:0100587)2.07970488
50Hepatic necrosis (HP:0002605)2.05704902
51Large earlobe (HP:0009748)2.03885482
52Intrahepatic cholestasis (HP:0001406)2.03298132
53Abnormality of midbrain morphology (HP:0002418)2.03074619
54Molar tooth sign on MRI (HP:0002419)2.03074619
55Redundant skin (HP:0001582)2.02728574
56Delayed puberty (HP:0000823)2.01520184
57Volvulus (HP:0002580)2.01416299
58Abnormality of the fovea (HP:0000493)1.98699334
59Increased serum lactate (HP:0002151)1.98509248
60Diminished movement (HP:0002374)1.95848416
61Aplasia/Hypoplasia of the fovea (HP:0008060)1.93093657
62Hypoplasia of the fovea (HP:0007750)1.93093657
63Medulloblastoma (HP:0002885)1.90852710
64Abnormality of the hip-girdle musculature (HP:0001445)1.89918104
65Abnormality of the musculature of the pelvis (HP:0001469)1.89918104
66Abnormality of endocrine pancreas physiology (HP:0012093)1.87627901
67Abnormality of the pancreatic islet cells (HP:0006476)1.87627901
68Shoulder girdle muscle weakness (HP:0003547)1.85380250
69Pelvic girdle muscle weakness (HP:0003749)1.85043430
70Abnormality of the astrocytes (HP:0100707)1.83757966
71Astrocytoma (HP:0009592)1.83757966
72Pancreatic islet-cell hyperplasia (HP:0004510)1.80473224
73Hypoglycemic seizures (HP:0002173)1.79953813
74Embryonal neoplasm (HP:0002898)1.78585430
75Sloping forehead (HP:0000340)1.78322492
76Nephronophthisis (HP:0000090)1.76466929
77Myelodysplasia (HP:0002863)1.75533163
78CNS demyelination (HP:0007305)1.71825588
79Tubulointerstitial nephritis (HP:0001970)1.70936970
80Rimmed vacuoles (HP:0003805)1.70506817
81Glioma (HP:0009733)1.68834550
82Acute myeloid leukemia (HP:0004808)1.68504740
83Short middle phalanx of finger (HP:0005819)1.63312032
84Abnormal lung lobation (HP:0002101)1.63260811
85Intestinal atresia (HP:0011100)1.61678787
86Hypophosphatemic rickets (HP:0004912)1.60759195
87Amblyopia (HP:0000646)1.60599402
88Increased nuchal translucency (HP:0010880)1.59586262
89Hyperinsulinemic hypoglycemia (HP:0000825)1.58104620
90Overlapping toe (HP:0001845)1.57757666
91Abnormality of the carotid arteries (HP:0005344)1.57352953
92Uterine neoplasm (HP:0010784)1.55857215
93Abnormality of male internal genitalia (HP:0000022)1.54697994
94Syringomyelia (HP:0003396)1.54501671
95Spinal cord lesions (HP:0100561)1.54501671
96Central scotoma (HP:0000603)1.53395001
97Fasciculations (HP:0002380)1.53228371
98Death in infancy (HP:0001522)1.51836023
99Chorioretinal coloboma (HP:0000567)1.51512373
100Abnormal gallbladder physiology (HP:0012438)1.49817269

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K65.76490395
2TLK14.87651534
3MAP3K53.46537491
4MAP4K23.16751062
5SIK22.34360706
6MAP3K82.06490547
7TAOK211.6112311
8TTK1.93906301
9NME11.77080661
10EEF2K1.67203018
11WEE11.40566440
12BUB11.31330455
13MST41.28832777
14MAPKAPK31.23985106
15SRPK11.14943126
16BRSK21.10764608
17EIF2AK31.09833478
18CASK1.08737762
19FRK1.08387625
20TRPM71.02413752
21BCR0.99839223
22CDC70.98714608
23NEK10.97270426
24TRIM280.96956452
25EIF2AK10.95944635
26PLK30.93818753
27CCNB10.90939976
28MAPKAPK50.85667119
29PLK40.83635205
30PBK0.80826127
31RPS6KB20.80810151
32RIPK10.79472606
33SIK30.77804718
34CSNK1G30.75436070
35CSNK1G10.72813476
36TSSK60.70942628
37NUAK10.69983750
38MAPK130.64717410
39MKNK10.64234583
40BRD40.63820213
41RIPK40.62681799
42MKNK20.61612950
43CSNK1A1L0.60684614
44CSNK1G20.60365126
45STK390.60126849
46PIK3CA0.59678227
47PLK10.59384048
48STK40.58609639
49ATR0.58313038
50TAF10.58111732
51OXSR10.58103721
52WNK30.51914186
53VRK10.51660115
54WNK40.51628505
55TNIK0.46442864
56CHEK20.45081499
57PLK20.41845730
58ERBB30.40199215
59ZAK0.39329698
60MELK0.39325769
61ATM0.38449865
62YES10.37543771
63BRSK10.37015954
64MAP3K40.34967021
65VRK20.32143628
66SCYL20.31615994
67EIF2AK20.31541620
68MARK30.30597705
69STK30.30402589
70STK160.30067106
71AURKA0.29877180
72FGFR20.28998633
73AURKB0.24394071
74MAP3K20.24392847
75CDK80.23456806
76HIPK20.23142848
77NLK0.22314222
78KSR10.22204592
79NTRK30.21494163
80MINK10.19508779
81CHEK10.17040142
82CDK10.16869715
83BMPR1B0.16026773
84RAF10.15553559
85NEK20.15017377
86CSNK2A10.13740686
87CDK30.12918484
88FGFR10.12570442
89DYRK30.12417071
90FLT30.10856227
91EPHA30.09695251
92RPS6KA40.08142699
93CSNK1A10.07993820
94MAP2K70.07936197
95CDK20.07932366
96PDK20.07714102
97RET0.07024351
98PASK0.06099903
99NEK60.05408582
100CSNK2A20.05069956

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034303.84501894
2Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.49821864
3DNA replication_Homo sapiens_hsa030303.39678769
4Non-homologous end-joining_Homo sapiens_hsa034503.25685060
5Homologous recombination_Homo sapiens_hsa034403.20734795
6Fanconi anemia pathway_Homo sapiens_hsa034602.58169023
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.57954649
8Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.51598342
9Cell cycle_Homo sapiens_hsa041102.37250901
10RNA transport_Homo sapiens_hsa030132.25343253
11Nucleotide excision repair_Homo sapiens_hsa034202.21835011
12Basal transcription factors_Homo sapiens_hsa030222.09879640
13Selenocompound metabolism_Homo sapiens_hsa004502.05688550
14Proteasome_Homo sapiens_hsa030502.01405124
15Fatty acid elongation_Homo sapiens_hsa000621.96640136
16Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.92583848
17Propanoate metabolism_Homo sapiens_hsa006401.92252350
18RNA degradation_Homo sapiens_hsa030181.88152263
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.86031359
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.77080906
21Butanoate metabolism_Homo sapiens_hsa006501.73889381
22One carbon pool by folate_Homo sapiens_hsa006701.70498045
23Base excision repair_Homo sapiens_hsa034101.65728091
24Pyrimidine metabolism_Homo sapiens_hsa002401.63423463
25Protein export_Homo sapiens_hsa030601.62106659
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.59140448
27Oocyte meiosis_Homo sapiens_hsa041141.57981516
28Spliceosome_Homo sapiens_hsa030401.56716809
29mRNA surveillance pathway_Homo sapiens_hsa030151.51084842
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.45355091
31RNA polymerase_Homo sapiens_hsa030201.43442749
32Steroid biosynthesis_Homo sapiens_hsa001001.36670216
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35681772
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.33685823
35Purine metabolism_Homo sapiens_hsa002301.28290636
36Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.27910894
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.22863783
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.15775384
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.13117068
40Biosynthesis of amino acids_Homo sapiens_hsa012301.12668179
41Pyruvate metabolism_Homo sapiens_hsa006201.09572438
42Carbon metabolism_Homo sapiens_hsa012001.06619283
43Parkinsons disease_Homo sapiens_hsa050121.05278851
44Folate biosynthesis_Homo sapiens_hsa007901.04930214
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.04864785
46Maturity onset diabetes of the young_Homo sapiens_hsa049501.00692427
47TGF-beta signaling pathway_Homo sapiens_hsa043500.98787933
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94360398
49Toxoplasmosis_Homo sapiens_hsa051450.92710661
50Cocaine addiction_Homo sapiens_hsa050300.90087625
51Systemic lupus erythematosus_Homo sapiens_hsa053220.87968983
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.79784512
53Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.79349708
54Oxidative phosphorylation_Homo sapiens_hsa001900.78736714
55p53 signaling pathway_Homo sapiens_hsa041150.77763542
56Alcoholism_Homo sapiens_hsa050340.75467829
57GnRH signaling pathway_Homo sapiens_hsa049120.74775059
58Influenza A_Homo sapiens_hsa051640.70771741
59Primary bile acid biosynthesis_Homo sapiens_hsa001200.70582081
60Regulation of autophagy_Homo sapiens_hsa041400.70383705
61Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.70041632
62Circadian rhythm_Homo sapiens_hsa047100.64817706
63Fatty acid metabolism_Homo sapiens_hsa012120.63321234
64MicroRNAs in cancer_Homo sapiens_hsa052060.62578420
65Epstein-Barr virus infection_Homo sapiens_hsa051690.61775067
66Phototransduction_Homo sapiens_hsa047440.60632595
67Peroxisome_Homo sapiens_hsa041460.58133158
68Glutathione metabolism_Homo sapiens_hsa004800.57062297
69Alzheimers disease_Homo sapiens_hsa050100.51244868
70HIF-1 signaling pathway_Homo sapiens_hsa040660.50142146
71Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.48157136
72Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.47676042
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.44931203
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.41284918
75Dorso-ventral axis formation_Homo sapiens_hsa043200.39961780
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39127833
77Metabolic pathways_Homo sapiens_hsa011000.39004880
78Endometrial cancer_Homo sapiens_hsa052130.38857099
79Small cell lung cancer_Homo sapiens_hsa052220.37396440
80Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37191521
81Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.37026665
82Huntingtons disease_Homo sapiens_hsa050160.34188267
83Vitamin B6 metabolism_Homo sapiens_hsa007500.33315864
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.33153345
85Toll-like receptor signaling pathway_Homo sapiens_hsa046200.32903633
86Renal cell carcinoma_Homo sapiens_hsa052110.31984680
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31464499
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29919513
89Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29554748
90Drug metabolism - other enzymes_Homo sapiens_hsa009830.29417135
91Olfactory transduction_Homo sapiens_hsa047400.26416787
92Prostate cancer_Homo sapiens_hsa052150.26291298
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26199744
94Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.25781829
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25517049
96Lysine degradation_Homo sapiens_hsa003100.24628406
97mTOR signaling pathway_Homo sapiens_hsa041500.23564208
98Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.21178946
99Viral carcinogenesis_Homo sapiens_hsa052030.18102201
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.16374733

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