BCL2L2-PABPN1

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 locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of retinoic acid receptor signaling pathway (GO:0048387)6.49216709
2regulation of retinoic acid receptor signaling pathway (GO:0048385)5.68285599
3mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)4.27952439
4positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021104.27952439
5pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.25204161
6pyrimidine nucleotide catabolic process (GO:0006244)4.05919007
7protein polyglutamylation (GO:0018095)3.99447738
8muscle organ morphogenesis (GO:0048644)3.98627165
9pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.92010148
10chaperone-mediated protein transport (GO:0072321)3.61754163
11base-excision repair, AP site formation (GO:0006285)3.60633589
12rRNA modification (GO:0000154)3.57240183
13response to pheromone (GO:0019236)3.55377104
14ribosome assembly (GO:0042255)3.49437773
15regulation of cilium movement (GO:0003352)3.44739588
16negative regulation of telomerase activity (GO:0051974)3.43687307
17mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.42841614
18ncRNA 3-end processing (GO:0043628)3.41247734
19positive regulation of mitochondrial membrane permeability (GO:0035794)3.36362281
20positive regulation of vesicle fusion (GO:0031340)3.31861456
21deoxyribose phosphate biosynthetic process (GO:0046385)3.28195943
222-deoxyribonucleotide biosynthetic process (GO:0009265)3.28195943
23ribosomal small subunit biogenesis (GO:0042274)3.23412034
24negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.21615578
25mitochondrial respiratory chain complex I assembly (GO:0032981)3.17944893
26NADH dehydrogenase complex assembly (GO:0010257)3.17944893
27mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.17944893
28protein-cofactor linkage (GO:0018065)3.14800243
29energy coupled proton transport, down electrochemical gradient (GO:0015985)3.14724786
30ATP synthesis coupled proton transport (GO:0015986)3.14724786
31negative regulation of telomere maintenance (GO:0032205)3.13915568
32regulation of telomerase activity (GO:0051972)3.10951301
33rRNA methylation (GO:0031167)3.10328992
34establishment of mitochondrion localization (GO:0051654)3.08374557
35protein complex biogenesis (GO:0070271)3.06764437
36male meiosis I (GO:0007141)3.03721013
37deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.98738756
38single strand break repair (GO:0000012)2.97341893
39mitochondrial respiratory chain complex assembly (GO:0033108)2.96874522
40protein neddylation (GO:0045116)2.91393776
41deoxyribonucleotide catabolic process (GO:0009264)2.83327983
42preassembly of GPI anchor in ER membrane (GO:0016254)2.82698964
43protein targeting to mitochondrion (GO:0006626)2.82524347
44negative regulation of DNA-templated transcription, elongation (GO:0032785)2.81594743
45transcription elongation from RNA polymerase III promoter (GO:0006385)2.81242996
46termination of RNA polymerase III transcription (GO:0006386)2.81242996
47acrosome reaction (GO:0007340)2.80471657
48mitochondrion transport along microtubule (GO:0047497)2.79282109
49establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.79282109
50deoxyribose phosphate catabolic process (GO:0046386)2.78286324
51microtubule severing (GO:0051013)2.77777167
522-deoxyribonucleotide metabolic process (GO:0009394)2.74505105
53GMP metabolic process (GO:0046037)2.72134554
54GPI anchor biosynthetic process (GO:0006506)2.71650718
55GDP-mannose metabolic process (GO:0019673)2.71515173
56peptidyl-histidine modification (GO:0018202)2.67756617
57neurofilament cytoskeleton organization (GO:0060052)2.67492926
58respiratory electron transport chain (GO:0022904)2.66594434
59positive regulation of mitochondrial fission (GO:0090141)2.66379529
60cullin deneddylation (GO:0010388)2.66243189
61myelin assembly (GO:0032288)2.62747240
62deoxyribose phosphate metabolic process (GO:0019692)2.58758037
63DNA damage response, detection of DNA damage (GO:0042769)2.58250283
64electron transport chain (GO:0022900)2.57718714
65autophagic vacuole assembly (GO:0000045)2.55897975
66meiosis I (GO:0007127)2.55646249
67establishment of protein localization to mitochondrion (GO:0072655)2.55154745
68protein maturation by protein folding (GO:0022417)2.55154136
69GPI anchor metabolic process (GO:0006505)2.54573678
70guanosine-containing compound biosynthetic process (GO:1901070)2.54352708
71ribonucleoprotein complex disassembly (GO:0032988)2.53282778
72mitochondrial fission (GO:0000266)2.52009707
73deoxyribonucleotide biosynthetic process (GO:0009263)2.51527063
74DNA damage induced protein phosphorylation (GO:0006975)2.50741943
75ventricular cardiac muscle cell development (GO:0055015)2.47890515
76protein deneddylation (GO:0000338)2.47588348
77mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.45709374
78DNA packaging (GO:0006323)2.45458859
79sperm-egg recognition (GO:0035036)2.44657655
80cellular component biogenesis (GO:0044085)2.43717609
81metallo-sulfur cluster assembly (GO:0031163)2.43512732
82iron-sulfur cluster assembly (GO:0016226)2.43512732
83oxygen transport (GO:0015671)2.43466461
84transcription from RNA polymerase III promoter (GO:0006383)2.42374503
85deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.42145356
86protein localization to mitochondrion (GO:0070585)2.41997916
87positive regulation of growth hormone secretion (GO:0060124)2.41599386
88C-terminal protein lipidation (GO:0006501)2.41569705
89binding of sperm to zona pellucida (GO:0007339)2.41387598
90organelle disassembly (GO:1903008)2.40324740
91positive regulation of TOR signaling (GO:0032008)2.40300544
92chromosome condensation (GO:0030261)2.38893534
93myoblast migration (GO:0051451)2.36227977
94negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.34525082
95alanine transport (GO:0032328)2.34277227
96kinetochore assembly (GO:0051382)2.34203298
97lipopolysaccharide biosynthetic process (GO:0009103)2.33738040
98tRNA processing (GO:0008033)2.31081932
99multicellular organism reproduction (GO:0032504)2.27863940
100deoxyribonucleotide metabolic process (GO:0009262)2.26935216

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.79589809
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.65071018
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.34968578
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.31695241
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.26875259
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.20322314
7GABP_19822575_ChIP-Seq_HepG2_Human2.93764557
8HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.90939684
9RBPJ_22232070_ChIP-Seq_NCS_Mouse2.85826712
10E2F7_22180533_ChIP-Seq_HELA_Human2.81785493
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.63480512
12MYC_18358816_ChIP-ChIP_MESCs_Mouse2.60201143
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.56556353
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.55256897
15TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.39270520
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.27800040
17THAP11_20581084_ChIP-Seq_MESCs_Mouse2.23027431
18ZNF263_19887448_ChIP-Seq_K562_Human2.11026187
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.10211544
20DCP1A_22483619_ChIP-Seq_HELA_Human2.09173942
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.05215425
22CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.03289764
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.03117311
24EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.94128005
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.91068539
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.85817872
27MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.80217625
28FOXP3_21729870_ChIP-Seq_TREG_Human1.78078430
29MYC_19030024_ChIP-ChIP_MESCs_Mouse1.78038009
30DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.77394055
31PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75483219
32TTF2_22483619_ChIP-Seq_HELA_Human1.74907101
33E2F1_18555785_ChIP-Seq_MESCs_Mouse1.74236148
34XRN2_22483619_ChIP-Seq_HELA_Human1.68286253
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.66401302
36VDR_23849224_ChIP-Seq_CD4+_Human1.63932185
37CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.63791790
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61043216
39SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.59597250
40CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.59406456
41CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.58775393
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.57433812
43SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.52295514
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.45709218
45SRF_21415370_ChIP-Seq_HL-1_Mouse1.42613287
46MYCN_18555785_ChIP-Seq_MESCs_Mouse1.40692930
47NELFA_20434984_ChIP-Seq_ESCs_Mouse1.40582780
48PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.39181852
49ELF1_17652178_ChIP-ChIP_JURKAT_Human1.35797836
50CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.34828234
51SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.32990618
52POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.31302936
53HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.30929218
54MYC_18940864_ChIP-ChIP_HL60_Human1.27523890
55ESR1_15608294_ChIP-ChIP_MCF-7_Human1.25570090
56ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.23838463
57ELK1_19687146_ChIP-ChIP_HELA_Human1.21694660
58ZNF274_21170338_ChIP-Seq_K562_Hela1.19644783
59KDM5A_27292631_Chip-Seq_BREAST_Human1.17916294
60CIITA_25753668_ChIP-Seq_RAJI_Human1.17290707
61FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.14558907
62E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.11437889
63ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.10208415
64TBX5_21415370_ChIP-Seq_HL-1_Mouse1.09945574
65P53_21459846_ChIP-Seq_SAOS-2_Human1.09181353
66RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08801176
67* FOXP1_21924763_ChIP-Seq_HESCs_Human1.08058888
68SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07465361
69CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.07384783
70ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.06936982
71ERA_21632823_ChIP-Seq_H3396_Human1.06386365
72YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06344603
73DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.04811876
74CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.04448879
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.02903762
76MYC_19079543_ChIP-ChIP_MESCs_Mouse1.02107231
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.01734476
78TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.01260666
79TP63_19390658_ChIP-ChIP_HaCaT_Human1.00907179
80P68_20966046_ChIP-Seq_HELA_Human1.00860492
81PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.97212640
82CTCF_18555785_ChIP-Seq_MESCs_Mouse0.96028588
83RARA_24833708_ChIP-Seq_LIVER_Mouse0.95526036
84ERG_20887958_ChIP-Seq_HPC-7_Mouse0.94962673
85TP53_22127205_ChIP-Seq_IMR90_Human0.94700298
86PHF8_20622854_ChIP-Seq_HELA_Human0.93763028
87TET1_21451524_ChIP-Seq_MESCs_Mouse0.93734280
88IRF1_19129219_ChIP-ChIP_H3396_Human0.93723511
89TFEB_21752829_ChIP-Seq_HELA_Human0.92052179
90HTT_18923047_ChIP-ChIP_STHdh_Human0.91397438
91E2F1_21310950_ChIP-Seq_MCF-7_Human0.90774827
92ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.88949567
93BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88579304
94TP53_22573176_ChIP-Seq_HFKS_Human0.87904657
95BCL6_27268052_Chip-Seq_Bcells_Human0.87449765
96AR_21909140_ChIP-Seq_LNCAP_Human0.87179429
97E2F1_20622854_ChIP-Seq_HELA_Human0.86951135
98NANOG_18555785_ChIP-Seq_MESCs_Mouse0.86604133
99GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.86324331
100CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.86106582

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008789_abnormal_olfactory_epithelium2.88872911
2MP0000372_irregular_coat_pigmentation2.84297027
3MP0006292_abnormal_olfactory_placode2.78656317
4MP0005394_taste/olfaction_phenotype2.72468203
5MP0005499_abnormal_olfactory_system2.72468203
6MP0003880_abnormal_central_pattern2.60649635
7MP0002163_abnormal_gland_morphology2.40455330
8MP0005410_abnormal_fertilization2.39837518
9MP0003123_paternal_imprinting2.28319810
10MP0006276_abnormal_autonomic_nervous2.13346235
11MP0004147_increased_porphyrin_level2.10053644
12MP0005451_abnormal_body_composition2.05415025
13MP0003646_muscle_fatigue1.99523629
14MP0003011_delayed_dark_adaptation1.88683470
15MP0003787_abnormal_imprinting1.87763337
16MP0010030_abnormal_orbit_morphology1.86488207
17MP0008875_abnormal_xenobiotic_pharmacok1.85222355
18MP0005379_endocrine/exocrine_gland_phen1.73138914
19MP0003786_premature_aging1.72711442
20MP0001984_abnormal_olfaction1.65759424
21MP0001529_abnormal_vocalization1.63908310
22MP0003121_genomic_imprinting1.57401015
23MP0000631_abnormal_neuroendocrine_gland1.56845429
24MP0004133_heterotaxia1.56566642
25MP0009697_abnormal_copulation1.54144499
26MP0008057_abnormal_DNA_replication1.53977946
27MP0010368_abnormal_lymphatic_system1.52374128
28MP0005551_abnormal_eye_electrophysiolog1.51908490
29MP0003693_abnormal_embryo_hatching1.47161644
30MP0003718_maternal_effect1.44805695
31MP0008058_abnormal_DNA_repair1.43387599
32MP0008932_abnormal_embryonic_tissue1.41269718
33MP0003077_abnormal_cell_cycle1.40977879
34MP0002234_abnormal_pharynx_morphology1.40642941
35MP0004233_abnormal_muscle_weight1.40614120
36MP0009046_muscle_twitch1.40336353
37MP0002210_abnormal_sex_determination1.37373922
38MP0004270_analgesia1.36600062
39MP0005646_abnormal_pituitary_gland1.34505232
40MP0003122_maternal_imprinting1.33925122
41MP0000049_abnormal_middle_ear1.33172789
42MP0003111_abnormal_nucleus_morphology1.31185040
43MP0005360_urolithiasis1.27209212
44MP0003890_abnormal_embryonic-extraembry1.23981429
45MP0005058_abnormal_lysosome_morphology1.22876630
46MP0000778_abnormal_nervous_system1.21878799
47MP0008995_early_reproductive_senescence1.19076850
48MP0002938_white_spotting1.17817680
49MP0005423_abnormal_somatic_nervous1.16612964
50MP0002184_abnormal_innervation1.13585682
51MP0001929_abnormal_gametogenesis1.11845080
52MP0005257_abnormal_intraocular_pressure1.10514850
53MP0005670_abnormal_white_adipose1.10159129
54MP0001986_abnormal_taste_sensitivity1.10086109
55MP0001270_distended_abdomen1.08564976
56MP0003942_abnormal_urinary_system1.08358195
57MP0003186_abnormal_redox_activity1.08357949
58MP0003698_abnormal_male_reproductive1.08061068
59MP0002160_abnormal_reproductive_system1.07980810
60MP0006036_abnormal_mitochondrial_physio1.06861191
61MP0003878_abnormal_ear_physiology1.04813526
62MP0005377_hearing/vestibular/ear_phenot1.04813526
63MP0002233_abnormal_nose_morphology1.03643110
64MP0003755_abnormal_palate_morphology1.03337379
65MP0004811_abnormal_neuron_physiology1.02446107
66MP0002127_abnormal_cardiovascular_syste1.01454881
67MP0001293_anophthalmia0.98107715
68MP0000358_abnormal_cell_content/0.95894170
69MP0008775_abnormal_heart_ventricle0.95247093
70MP0004885_abnormal_endolymph0.92803361
71MP0000653_abnormal_sex_gland0.92727353
72MP0000749_muscle_degeneration0.92524956
73MP0008877_abnormal_DNA_methylation0.90423369
74MP0001188_hyperpigmentation0.86512190
75MP0002177_abnormal_outer_ear0.85221570
76MP0000647_abnormal_sebaceous_gland0.85181797
77MP0008260_abnormal_autophagy0.84892445
78MP0002734_abnormal_mechanical_nocicepti0.83113017
79MP0001145_abnormal_male_reproductive0.81807850
80MP0002161_abnormal_fertility/fecundity0.81610547
81MP0000003_abnormal_adipose_tissue0.78911369
82MP0001697_abnormal_embryo_size0.77948553
83MP0002269_muscular_atrophy0.77851568
84MP0005389_reproductive_system_phenotype0.76239397
85MP0005332_abnormal_amino_acid0.75339789
86MP0003385_abnormal_body_wall0.75240361
87MP0001963_abnormal_hearing_physiology0.74229877
88MP0002084_abnormal_developmental_patter0.74012917
89MP0001905_abnormal_dopamine_level0.73891991
90MP0000678_abnormal_parathyroid_gland0.73855781
91MP0002752_abnormal_somatic_nervous0.72705595
92MP0005195_abnormal_posterior_eye0.71940452
93MP0003806_abnormal_nucleotide_metabolis0.71862133
94MP0002272_abnormal_nervous_system0.70834971
95MP0001970_abnormal_pain_threshold0.70421946
96MP0001968_abnormal_touch/_nociception0.70208193
97MP0003950_abnormal_plasma_membrane0.70202452
98MP0001542_abnormal_bone_strength0.69723404
99MP0000955_abnormal_spinal_cord0.69564660
100MP0003861_abnormal_nervous_system0.69275056

Predicted human phenotypes

RankGene SetZ-score
1Renal Fanconi syndrome (HP:0001994)3.51986551
2Male infertility (HP:0003251)3.48418747
3Hypokinesia (HP:0002375)3.47775822
4Increased serum pyruvate (HP:0003542)3.33568052
5Hyperthyroidism (HP:0000836)3.18978134
6Acute necrotizing encephalopathy (HP:0006965)3.12989553
7Abnormal mitochondria in muscle tissue (HP:0008316)2.96792240
8Abnormality of the aortic arch (HP:0012303)2.93091743
9Mitochondrial inheritance (HP:0001427)2.90709678
10Increased CSF lactate (HP:0002490)2.90309756
11Microretrognathia (HP:0000308)2.89798323
12Hepatocellular necrosis (HP:0001404)2.72124824
13Increased hepatocellular lipid droplets (HP:0006565)2.71859333
14Acute encephalopathy (HP:0006846)2.70950677
15Lipid accumulation in hepatocytes (HP:0006561)2.68102548
16Deep palmar crease (HP:0006191)2.66659440
17Adrenal hypoplasia (HP:0000835)2.63645424
18Increased serum lactate (HP:0002151)2.60802642
19Increased intramyocellular lipid droplets (HP:0012240)2.56977619
20Decreased activity of mitochondrial respiratory chain (HP:0008972)2.55510173
21Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.55510173
22Type II lissencephaly (HP:0007260)2.54385876
23Abnormality of glycolysis (HP:0004366)2.53281147
24Facial cleft (HP:0002006)2.48657384
25Overlapping toe (HP:0001845)2.43612252
26Broad distal phalanx of finger (HP:0009836)2.36153802
27Redundant skin (HP:0001582)2.36060209
28Hepatic necrosis (HP:0002605)2.33055928
29Hypophosphatemic rickets (HP:0004912)2.29550204
303-Methylglutaconic aciduria (HP:0003535)2.27279665
31Progressive macrocephaly (HP:0004481)2.26418345
32Abnormality of renal resorption (HP:0011038)2.21346483
33Amblyopia (HP:0000646)2.18156671
34Abnormal hemoglobin (HP:0011902)2.17715767
35Submucous cleft hard palate (HP:0000176)2.15150152
36Retinal dysplasia (HP:0007973)2.14961181
37Increased muscle lipid content (HP:0009058)2.11086112
38Facial hemangioma (HP:0000329)2.10499518
39Degeneration of the lateral corticospinal tracts (HP:0002314)2.08975432
40Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.08975432
41Abnormality of the corticospinal tract (HP:0002492)2.06619224
42Abnormality of the heme biosynthetic pathway (HP:0010472)2.04693907
43Abnormality of cells of the erythroid lineage (HP:0012130)2.01846891
44Entropion (HP:0000621)1.99886486
45Severe visual impairment (HP:0001141)1.99738598
46Cerebral hypomyelination (HP:0006808)1.99567367
47Truncus arteriosus (HP:0001660)1.99492793
48Cerebral edema (HP:0002181)1.98982398
49Poor suck (HP:0002033)1.93279887
50Preauricular skin tag (HP:0000384)1.93173397
51Lactic acidosis (HP:0003128)1.92953866
52Absent rod-and cone-mediated responses on ERG (HP:0007688)1.91857195
53Double outlet right ventricle (HP:0001719)1.88622217
54Congenital malformation of the right heart (HP:0011723)1.88622217
55Occipital encephalocele (HP:0002085)1.88324759
56Hand muscle atrophy (HP:0009130)1.85842804
57Exercise intolerance (HP:0003546)1.85625269
58Abnormality of midbrain morphology (HP:0002418)1.83417657
59Molar tooth sign on MRI (HP:0002419)1.83417657
60Aplastic anemia (HP:0001915)1.83345549
61Stenosis of the external auditory canal (HP:0000402)1.82060297
62Abnormality of aromatic amino acid family metabolism (HP:0004338)1.81136110
63Abnormality of the tricuspid valve (HP:0001702)1.80520115
64Cerebellar dysplasia (HP:0007033)1.79194078
65Atelectasis (HP:0100750)1.79155587
66Down-sloping shoulders (HP:0200021)1.78335917
67Generalized aminoaciduria (HP:0002909)1.77966920
68Mitral stenosis (HP:0001718)1.77144844
69Abnormality of lateral ventricle (HP:0030047)1.77068728
70Diminished movement (HP:0002374)1.75580449
71Back pain (HP:0003418)1.75114111
72Glossoptosis (HP:0000162)1.74468500
73Diastasis recti (HP:0001540)1.74214684
74Premature ovarian failure (HP:0008209)1.70924730
75Multiple enchondromatosis (HP:0005701)1.70242624
76Sensory axonal neuropathy (HP:0003390)1.69970222
77Hypoplastic left heart (HP:0004383)1.69877638
78Supernumerary spleens (HP:0009799)1.69848115
79Ragged-red muscle fibers (HP:0003200)1.69509138
80Atrioventricular canal defect (HP:0006695)1.67025062
81Abnormal number of erythroid precursors (HP:0012131)1.66923938
82Neonatal respiratory distress (HP:0002643)1.66009593
83Pancreatic fibrosis (HP:0100732)1.65618086
84Concave nail (HP:0001598)1.65177247
85Insomnia (HP:0100785)1.63419274
86Complete atrioventricular canal defect (HP:0001674)1.63296682
87Polymicrogyria (HP:0002126)1.63063929
88Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.62869601
89Hypertensive crisis (HP:0100735)1.61962288
90Microvesicular hepatic steatosis (HP:0001414)1.61220256
91Abnormality of cochlea (HP:0000375)1.60187669
92Chromsome breakage (HP:0040012)1.60167808
93Microglossia (HP:0000171)1.60022916
94Small epiphyses (HP:0010585)1.58723043
95Glycosuria (HP:0003076)1.57192846
96Abnormality of urine glucose concentration (HP:0011016)1.57192846
97Chromosomal breakage induced by crosslinking agents (HP:0003221)1.56836453
98Recurrent corneal erosions (HP:0000495)1.54410112
99Myokymia (HP:0002411)1.54146949
100Abnormal connection of the cardiac segments (HP:0011545)1.53667287

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK24.60948013
2ARAF4.02394539
3MAP4K23.77352082
4BRAF3.56224734
5AKT33.46032594
6PINK12.57744480
7TRIM282.40402296
8IRAK32.05253164
9PLK42.00664419
10MAP3K92.00505265
11PDK21.95406146
12PIM21.90738313
13SIK21.86668315
14BRSK11.86626235
15NME21.85090859
16EPHA41.81736207
17MAP2K61.81458425
18SRPK11.66064513
19DYRK31.61578421
20WNK41.60775692
21BCKDK1.41102885
22CAMK1D1.38083256
23RAF11.34803983
24MAP3K81.27971727
25MAP3K41.27970428
26AURKA1.26027282
27MAP3K51.25399619
28PRKCI1.25365034
29RPS6KA41.21433667
30LIMK11.17153652
31MINK11.16891935
32ILK1.16552500
33CLK11.16133019
34TLK11.15029943
35MOS1.06530886
36STK391.05301602
37DYRK21.03107187
38IRAK21.01236632
39PLK11.00620337
40MAP3K131.00207180
41CAMK1G0.99300652
42CSNK1G30.90197749
43PAK10.89697322
44BCR0.89343523
45BMPR20.89021155
46ERBB30.84132509
47MAP2K70.81843032
48CDK11A0.76618218
49KSR20.74319590
50CASK0.71037888
51WEE10.70655940
52WNK10.69164130
53CAMKK20.68007919
54CDK150.67728416
55AURKB0.67493383
56LATS10.63893579
57CDK180.63498155
58CSNK1A1L0.63114412
59MET0.63079972
60CDK140.62153086
61MARK30.61870969
62KSR10.61136344
63CSNK1G20.60948957
64STK160.58889951
65STK30.58718887
66TTK0.58472178
67PTK20.57505504
68CHEK20.56121257
69FLT30.54910530
70CSNK1G10.54640598
71CDK70.53567901
72PRKG20.53204010
73PRKD20.51695514
74EIF2AK10.50016037
75NTRK30.49900079
76PRKCG0.49522710
77BUB10.49115441
78BRSK20.47697790
79LATS20.45519868
80MTOR0.44652777
81PRKAA10.43896678
82CSNK2A20.43369079
83CDK190.41732575
84TESK10.40295051
85CHEK10.40230523
86STK380.39435271
87CDK10.39111658
88MST1R0.38711173
89CSNK2A10.38675528
90ABL20.38061437
91CSNK1E0.37904860
92EPHA20.37660694
93CDK20.37516731
94NEK20.36521915
95LRRK20.36357968
96DYRK1B0.34543747
97NME10.32828739
98EPHB10.32467592
99SGK2230.32410108
100SGK4940.32410108

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030203.60039673
2Oxidative phosphorylation_Homo sapiens_hsa001903.41531867
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.26231834
4Steroid biosynthesis_Homo sapiens_hsa001003.20764230
5Ribosome_Homo sapiens_hsa030103.20593865
6Parkinsons disease_Homo sapiens_hsa050123.01958964
7Protein export_Homo sapiens_hsa030602.58495820
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.57663382
9Pyrimidine metabolism_Homo sapiens_hsa002402.52015111
10Huntingtons disease_Homo sapiens_hsa050162.33796851
11Base excision repair_Homo sapiens_hsa034102.30392902
12Sulfur relay system_Homo sapiens_hsa041222.13913292
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.08577684
14DNA replication_Homo sapiens_hsa030302.08357342
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.89916840
16Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.83134307
17Fanconi anemia pathway_Homo sapiens_hsa034601.82930351
18Basal transcription factors_Homo sapiens_hsa030221.80263253
19Alzheimers disease_Homo sapiens_hsa050101.73703232
20Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.71308286
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.68181022
22Purine metabolism_Homo sapiens_hsa002301.63337372
23RNA transport_Homo sapiens_hsa030131.58414432
24Fatty acid elongation_Homo sapiens_hsa000621.56883374
25Cardiac muscle contraction_Homo sapiens_hsa042601.54967566
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.50466706
27Folate biosynthesis_Homo sapiens_hsa007901.48843857
28One carbon pool by folate_Homo sapiens_hsa006701.42453063
29Homologous recombination_Homo sapiens_hsa034401.40456233
30Spliceosome_Homo sapiens_hsa030401.39087346
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.35558496
32SNARE interactions in vesicular transport_Homo sapiens_hsa041301.34683908
33Butanoate metabolism_Homo sapiens_hsa006501.26330286
34Pyruvate metabolism_Homo sapiens_hsa006201.20240468
35Cysteine and methionine metabolism_Homo sapiens_hsa002701.16774261
36Regulation of autophagy_Homo sapiens_hsa041401.14076504
37Nucleotide excision repair_Homo sapiens_hsa034201.12342194
38Proteasome_Homo sapiens_hsa030501.12182036
39Arginine and proline metabolism_Homo sapiens_hsa003301.11123178
40Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.08588090
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08278183
42Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.02587917
43Olfactory transduction_Homo sapiens_hsa047401.01560435
44Metabolic pathways_Homo sapiens_hsa011000.98782497
45Mismatch repair_Homo sapiens_hsa034300.93898915
46Cell cycle_Homo sapiens_hsa041100.93023692
47Vibrio cholerae infection_Homo sapiens_hsa051100.91199862
48Fatty acid biosynthesis_Homo sapiens_hsa000610.87284696
49Glutathione metabolism_Homo sapiens_hsa004800.84875167
50Selenocompound metabolism_Homo sapiens_hsa004500.83761335
51RNA degradation_Homo sapiens_hsa030180.83549985
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.83104504
53Hedgehog signaling pathway_Homo sapiens_hsa043400.82731597
54Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82639056
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.81846231
56Synaptic vesicle cycle_Homo sapiens_hsa047210.79668933
57Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.76758505
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75462859
59Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.72356287
60Sulfur metabolism_Homo sapiens_hsa009200.69437626
61Propanoate metabolism_Homo sapiens_hsa006400.65306581
62Fatty acid metabolism_Homo sapiens_hsa012120.64747936
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62441665
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.62390709
65Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61367713
66Oocyte meiosis_Homo sapiens_hsa041140.60285259
67Peroxisome_Homo sapiens_hsa041460.58177602
68* mRNA surveillance pathway_Homo sapiens_hsa030150.54878182
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.54682008
70Collecting duct acid secretion_Homo sapiens_hsa049660.49497324
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.48981238
72Tyrosine metabolism_Homo sapiens_hsa003500.47753506
73Phototransduction_Homo sapiens_hsa047440.47628358
74Axon guidance_Homo sapiens_hsa043600.47146842
75Biosynthesis of amino acids_Homo sapiens_hsa012300.45288257
76Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39023338
77Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37108079
78N-Glycan biosynthesis_Homo sapiens_hsa005100.34887299
79Carbon metabolism_Homo sapiens_hsa012000.31009869
80p53 signaling pathway_Homo sapiens_hsa041150.29551777
81Phenylalanine metabolism_Homo sapiens_hsa003600.29198861
82Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.28808626
83AMPK signaling pathway_Homo sapiens_hsa041520.28484783
84Inositol phosphate metabolism_Homo sapiens_hsa005620.26766240
85Bladder cancer_Homo sapiens_hsa052190.26069265
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.25237639
87Sphingolipid metabolism_Homo sapiens_hsa006000.24045939
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.21224550
89Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.20204961
90Glycosaminoglycan degradation_Homo sapiens_hsa005310.15456033
91Pentose phosphate pathway_Homo sapiens_hsa000300.14783540
92Glucagon signaling pathway_Homo sapiens_hsa049220.14678619
93Long-term depression_Homo sapiens_hsa047300.14506964
94ErbB signaling pathway_Homo sapiens_hsa040120.11004083
95Circadian rhythm_Homo sapiens_hsa047100.10994225
96Cocaine addiction_Homo sapiens_hsa050300.10913580
97Phagosome_Homo sapiens_hsa041450.09710716
98Shigellosis_Homo sapiens_hsa051310.08923511
99Basal cell carcinoma_Homo sapiens_hsa052170.08916823
100Hippo signaling pathway_Homo sapiens_hsa043900.08308607

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