PMF1-BGLAP

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 PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.46644429
2energy coupled proton transport, down electrochemical gradient (GO:0015985)5.45948407
3ATP synthesis coupled proton transport (GO:0015986)5.45948407
4chaperone-mediated protein transport (GO:0072321)5.17869061
5protein complex biogenesis (GO:0070271)5.16764642
6establishment of protein localization to mitochondrial membrane (GO:0090151)5.14551918
7mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.09118379
8proteasome assembly (GO:0043248)5.06076379
9mitochondrial respiratory chain complex assembly (GO:0033108)4.87582129
10respiratory electron transport chain (GO:0022904)4.85428380
11NADH dehydrogenase complex assembly (GO:0010257)4.81439458
12mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.81439458
13mitochondrial respiratory chain complex I assembly (GO:0032981)4.81439458
14electron transport chain (GO:0022900)4.74945422
15protein neddylation (GO:0045116)4.53128415
16cullin deneddylation (GO:0010388)4.48083268
17establishment of integrated proviral latency (GO:0075713)4.29761500
18regulation of mitochondrial translation (GO:0070129)4.18435799
19protein deneddylation (GO:0000338)4.16214536
20respiratory chain complex IV assembly (GO:0008535)4.09979270
21nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.09103856
22negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.06587649
23exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.95714985
24cytochrome complex assembly (GO:0017004)3.93107697
25DNA damage response, detection of DNA damage (GO:0042769)3.90223255
26establishment of viral latency (GO:0019043)3.78238961
27sequestering of actin monomers (GO:0042989)3.76559702
28spliceosomal snRNP assembly (GO:0000387)3.76380839
29transcription elongation from RNA polymerase III promoter (GO:0006385)3.74384100
30termination of RNA polymerase III transcription (GO:0006386)3.74384100
31regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.70083664
32negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.62584527
33negative regulation of ligase activity (GO:0051352)3.62584527
34positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.61759197
35ribosomal small subunit assembly (GO:0000028)3.58302425
36CENP-A containing nucleosome assembly (GO:0034080)3.55308274
37chromatin remodeling at centromere (GO:0031055)3.55259498
38oxidative phosphorylation (GO:0006119)3.54998301
39protein targeting to mitochondrion (GO:0006626)3.52175306
40inner mitochondrial membrane organization (GO:0007007)3.52091753
41rRNA modification (GO:0000154)3.50103611
42regulation of mitotic spindle checkpoint (GO:1903504)3.49785564
43regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.49785564
44protein localization to mitochondrion (GO:0070585)3.45971932
45DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.44516065
46regulation of cellular amino acid metabolic process (GO:0006521)3.42110804
47establishment of protein localization to mitochondrion (GO:0072655)3.41403963
48anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.40347813
49signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.40034666
50signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.40034666
51signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.40034666
52pseudouridine synthesis (GO:0001522)3.39209522
53signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.34162742
54intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.34162742
55hydrogen ion transmembrane transport (GO:1902600)3.28787456
56tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.24825655
57RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.24825655
58signal transduction involved in cell cycle checkpoint (GO:0072395)3.24328878
59signal transduction involved in DNA damage checkpoint (GO:0072422)3.22629738
60signal transduction involved in DNA integrity checkpoint (GO:0072401)3.22629738
61heart process (GO:0003015)3.21484453
62heart contraction (GO:0060047)3.21484453
63metallo-sulfur cluster assembly (GO:0031163)3.16648357
64iron-sulfur cluster assembly (GO:0016226)3.16648357
65positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.15752138
66deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.11298323
67positive regulation of mitochondrial fission (GO:0090141)3.10022876
68histone mRNA metabolic process (GO:0008334)3.08977617
69ATP biosynthetic process (GO:0006754)3.06889417
70water-soluble vitamin biosynthetic process (GO:0042364)3.06641724
71regulation of helicase activity (GO:0051095)3.05182364
72protein-cofactor linkage (GO:0018065)3.04941520
73positive regulation of ligase activity (GO:0051351)3.03271265
747-methylguanosine mRNA capping (GO:0006370)3.00646530
75DNA ligation (GO:0006266)2.99992634
76purine nucleoside triphosphate biosynthetic process (GO:0009145)2.97942405
77purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.96163647
78proton transport (GO:0015992)2.93509384
79peptidyl-histidine modification (GO:0018202)2.93469920
807-methylguanosine RNA capping (GO:0009452)2.92447908
81RNA capping (GO:0036260)2.92447908
82translation (GO:0006412)2.92119500
83platelet dense granule organization (GO:0060155)2.90420725
84histone exchange (GO:0043486)2.88748536
85maturation of 5.8S rRNA (GO:0000460)2.87520302
86DNA double-strand break processing (GO:0000729)2.87337937
87hydrogen transport (GO:0006818)2.87294633
88intracellular protein transmembrane import (GO:0044743)2.87108111
89organelle disassembly (GO:1903008)2.83825896
90somatic hypermutation of immunoglobulin genes (GO:0016446)2.83796445
91somatic diversification of immune receptors via somatic mutation (GO:0002566)2.83796445
92regulation of ubiquitin-protein transferase activity (GO:0051438)2.82034184
93mitochondrial transport (GO:0006839)2.80094691
94base-excision repair, AP site formation (GO:0006285)2.78994399
95pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.78843404
96aerobic respiration (GO:0009060)2.75425663
97DNA strand elongation involved in DNA replication (GO:0006271)2.74206534
98regulation of ligase activity (GO:0051340)2.72995215
99purine nucleobase biosynthetic process (GO:0009113)2.72903738
100DNA catabolic process, exonucleolytic (GO:0000738)2.72512135

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.24402121
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.80871116
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.59359602
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.38580860
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.98033641
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.51966545
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.45562535
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.37395769
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.24385599
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.95464188
11MYC_18555785_ChIP-Seq_MESCs_Mouse2.94531679
12ELK1_19687146_ChIP-ChIP_HELA_Human2.72008850
13VDR_23849224_ChIP-Seq_CD4+_Human2.61300389
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.44210678
15PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.40205668
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.35874266
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.33640260
18SRF_21415370_ChIP-Seq_HL-1_Mouse2.32473662
19FOXP3_21729870_ChIP-Seq_TREG_Human2.27031539
20THAP11_20581084_ChIP-Seq_MESCs_Mouse2.22754175
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.18274776
22IGF1R_20145208_ChIP-Seq_DFB_Human2.16862445
23ZNF274_21170338_ChIP-Seq_K562_Hela2.08998098
24MYC_19030024_ChIP-ChIP_MESCs_Mouse2.04769079
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.02710189
26E2F7_22180533_ChIP-Seq_HELA_Human2.01378457
27YY1_21170310_ChIP-Seq_MESCs_Mouse1.94210034
28ELF1_17652178_ChIP-ChIP_JURKAT_Human1.90252773
29DCP1A_22483619_ChIP-Seq_HELA_Human1.90193858
30TTF2_22483619_ChIP-Seq_HELA_Human1.87645865
31PADI4_21655091_ChIP-ChIP_MCF-7_Human1.86467409
32FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.86319401
33E2F1_18555785_ChIP-Seq_MESCs_Mouse1.86061346
34MYC_18940864_ChIP-ChIP_HL60_Human1.79910035
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79840239
36SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.78896812
37ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.77600727
38GABP_19822575_ChIP-Seq_HepG2_Human1.77184999
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73254624
40MYC_19079543_ChIP-ChIP_MESCs_Mouse1.72917988
41XRN2_22483619_ChIP-Seq_HELA_Human1.68311741
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.67558111
43NELFA_20434984_ChIP-Seq_ESCs_Mouse1.62011596
44EWS_26573619_Chip-Seq_HEK293_Human1.57543387
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.55098716
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.48961045
47CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.47578964
48NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.42924666
49VDR_22108803_ChIP-Seq_LS180_Human1.40908561
50SOX2_16153702_ChIP-ChIP_HESCs_Human1.38662812
51FUS_26573619_Chip-Seq_HEK293_Human1.38192861
52MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.33811936
53MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.31090975
54POU5F1_16153702_ChIP-ChIP_HESCs_Human1.30664846
55NANOG_16153702_ChIP-ChIP_HESCs_Human1.28895602
56POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.28692109
57TAF15_26573619_Chip-Seq_HEK293_Human1.28538342
58CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.26281899
59FLI1_27457419_Chip-Seq_LIVER_Mouse1.22114677
60ELK1_22589737_ChIP-Seq_MCF10A_Human1.21506223
61MYCN_18555785_ChIP-Seq_MESCs_Mouse1.13753814
62GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.11520867
63ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10353161
64DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.07656623
65CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.06041379
66BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.04941414
67NANOG_18555785_ChIP-Seq_MESCs_Mouse1.04376652
68CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.04026195
69HTT_18923047_ChIP-ChIP_STHdh_Human1.03725362
70CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.01615900
71MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.01149575
72PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00700408
73SOX2_18555785_ChIP-Seq_MESCs_Mouse0.99885649
74CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98840307
75HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.98330742
76P300_19829295_ChIP-Seq_ESCs_Human0.97896535
77ZFP57_27257070_Chip-Seq_ESCs_Mouse0.97839216
78TP53_22573176_ChIP-Seq_HFKS_Human0.97631810
79TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92333274
80CTBP1_25329375_ChIP-Seq_LNCAP_Human0.91678651
81POU3F2_20337985_ChIP-ChIP_501MEL_Human0.90319657
82E2F1_21310950_ChIP-Seq_MCF-7_Human0.89769119
83KDM5A_27292631_Chip-Seq_BREAST_Human0.85734725
84RBPJ_22232070_ChIP-Seq_NCS_Mouse0.83901734
85CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.83853387
86FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.82638150
87E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.82512167
88CIITA_25753668_ChIP-Seq_RAJI_Human0.81783742
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.81782896
90CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.81280343
91TP63_19390658_ChIP-ChIP_HaCaT_Human0.81057978
92FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.80981786
93NOTCH1_21737748_ChIP-Seq_TLL_Human0.79433983
94PCGF2_27294783_Chip-Seq_NPCs_Mouse0.79351323
95NFE2_27457419_Chip-Seq_LIVER_Mouse0.77907253
96HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.77298034
97SUZ12_27294783_Chip-Seq_NPCs_Mouse0.75632452
98ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.75545137
99FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.74687506
100SOX17_20123909_ChIP-Seq_XEN_Mouse0.73918320

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis3.98682284
2MP0002102_abnormal_ear_morphology3.51425397
3MP0008058_abnormal_DNA_repair3.33688592
4MP0003136_yellow_coat_color2.67750329
5MP0001529_abnormal_vocalization2.67668312
6MP0004215_abnormal_myocardial_fiber2.55920626
7MP0000372_irregular_coat_pigmentation2.50018272
8MP0006072_abnormal_retinal_apoptosis2.46245353
9MP0006292_abnormal_olfactory_placode2.41543180
10MP0002938_white_spotting2.35084367
11MP0010094_abnormal_chromosome_stability2.22676820
12MP0004084_abnormal_cardiac_muscle2.12612533
13MP0001293_anophthalmia2.03878980
14MP0008877_abnormal_DNA_methylation1.97831252
15MP0003283_abnormal_digestive_organ1.97786005
16MP0006035_abnormal_mitochondrial_morpho1.97465942
17MP0003693_abnormal_embryo_hatching1.93365176
18MP0003718_maternal_effect1.90768679
19MP0008995_early_reproductive_senescence1.90303958
20MP0003186_abnormal_redox_activity1.84767723
21MP0003880_abnormal_central_pattern1.84260610
22MP0006036_abnormal_mitochondrial_physio1.83781217
23MP0004957_abnormal_blastocyst_morpholog1.76814453
24MP0005084_abnormal_gallbladder_morpholo1.76278040
25MP0004133_heterotaxia1.75932335
26MP0009379_abnormal_foot_pigmentation1.72715281
27MP0005253_abnormal_eye_physiology1.67412918
28MP0003137_abnormal_impulse_conducting1.62678840
29MP0003806_abnormal_nucleotide_metabolis1.58759910
30MP0008789_abnormal_olfactory_epithelium1.58031667
31MP0009697_abnormal_copulation1.55071690
32MP0005645_abnormal_hypothalamus_physiol1.52678989
33MP0001984_abnormal_olfaction1.47109318
34MP0002090_abnormal_vision1.47000612
35MP0003077_abnormal_cell_cycle1.45831857
36MP0010030_abnormal_orbit_morphology1.42687219
37MP0003111_abnormal_nucleus_morphology1.40757178
38MP0008007_abnormal_cellular_replicative1.36840225
39MP0004142_abnormal_muscle_tone1.36145111
40MP0002653_abnormal_ependyma_morphology1.35825917
41MP0008932_abnormal_embryonic_tissue1.34292066
42MP0000749_muscle_degeneration1.32076606
43MP0002751_abnormal_autonomic_nervous1.30745503
44MP0003786_premature_aging1.29589202
45MP0000049_abnormal_middle_ear1.26356993
46MP0001905_abnormal_dopamine_level1.25074764
47MP0005551_abnormal_eye_electrophysiolog1.23924289
48MP0003646_muscle_fatigue1.23203543
49MP0003011_delayed_dark_adaptation1.22624351
50MP0005330_cardiomyopathy1.22548574
51MP0002736_abnormal_nociception_after1.22453760
52MP0003121_genomic_imprinting1.21195925
53MP0003937_abnormal_limbs/digits/tail_de1.20890722
54MP0003195_calcinosis1.20496029
55MP0002277_abnormal_respiratory_mucosa1.20062914
56MP0002234_abnormal_pharynx_morphology1.18539804
57MP0005499_abnormal_olfactory_system1.17416816
58MP0005394_taste/olfaction_phenotype1.17416816
59MP0010386_abnormal_urinary_bladder1.11573486
60MP0001485_abnormal_pinna_reflex1.08265049
61MP0006276_abnormal_autonomic_nervous1.06188362
62MP0004147_increased_porphyrin_level1.04346521
63MP0004036_abnormal_muscle_relaxation1.03840729
64MP0003567_abnormal_fetal_cardiomyocyte1.03643423
65MP0002282_abnormal_trachea_morphology1.02701507
66MP0003119_abnormal_digestive_system1.02611537
67MP0002127_abnormal_cardiovascular_syste1.00696562
68MP0005391_vision/eye_phenotype1.00338319
69MP0002233_abnormal_nose_morphology0.99950944
70MP0002735_abnormal_chemical_nociception0.99660221
71MP0000631_abnormal_neuroendocrine_gland0.99400916
72MP0003122_maternal_imprinting0.96180881
73MP0001968_abnormal_touch/_nociception0.94706071
74MP0004085_abnormal_heartbeat0.93052444
75MP0001188_hyperpigmentation0.91404836
76MP0004145_abnormal_muscle_electrophysio0.91319883
77MP0003221_abnormal_cardiomyocyte_apopto0.90092653
78MP0001764_abnormal_homeostasis0.89700008
79MP0000537_abnormal_urethra_morphology0.88418118
80MP0003938_abnormal_ear_development0.86409196
81MP0005075_abnormal_melanosome_morpholog0.82556497
82MP0002210_abnormal_sex_determination0.82189842
83MP0002272_abnormal_nervous_system0.80501549
84MP0005187_abnormal_penis_morphology0.80262844
85MP0003315_abnormal_perineum_morphology0.79241118
86MP0002638_abnormal_pupillary_reflex0.79145155
87MP0005171_absent_coat_pigmentation0.77970950
88MP0001929_abnormal_gametogenesis0.76867769
89MP0000751_myopathy0.76821415
90MP0001299_abnormal_eye_distance/0.74100935
91MP0000647_abnormal_sebaceous_gland0.74058848
92MP0002822_catalepsy0.73394182
93MP0001145_abnormal_male_reproductive0.73317194
94MP0002697_abnormal_eye_size0.72688746
95MP0002269_muscular_atrophy0.72422448
96MP0000653_abnormal_sex_gland0.72414789
97MP0005423_abnormal_somatic_nervous0.69900563
98MP0002734_abnormal_mechanical_nocicepti0.69457843
99MP0000358_abnormal_cell_content/0.69416545
100MP0005195_abnormal_posterior_eye0.69141797

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.54026891
2Abnormal mitochondria in muscle tissue (HP:0008316)5.03668359
3Mitochondrial inheritance (HP:0001427)4.85392656
4Acute encephalopathy (HP:0006846)4.85231916
5Progressive macrocephaly (HP:0004481)4.57657712
6Hepatocellular necrosis (HP:0001404)4.51814949
7Increased CSF lactate (HP:0002490)4.38015170
8Hepatic necrosis (HP:0002605)4.32600678
9Increased hepatocellular lipid droplets (HP:0006565)4.25099021
10Cerebral edema (HP:0002181)3.90083089
11Lipid accumulation in hepatocytes (HP:0006561)3.84730634
12Renal Fanconi syndrome (HP:0001994)3.50839383
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.39679662
14Decreased activity of mitochondrial respiratory chain (HP:0008972)3.39679662
15Colon cancer (HP:0003003)3.10200872
16Lactic acidosis (HP:0003128)3.04535448
173-Methylglutaconic aciduria (HP:0003535)3.00438246
18Increased intramyocellular lipid droplets (HP:0012240)2.99744077
19Methylmalonic acidemia (HP:0002912)2.94173563
20Increased serum lactate (HP:0002151)2.89198061
21True hermaphroditism (HP:0010459)2.88178958
22Abnormal number of erythroid precursors (HP:0012131)2.78434219
23Increased serum pyruvate (HP:0003542)2.78255295
24Methylmalonic aciduria (HP:0012120)2.73431478
25Exercise intolerance (HP:0003546)2.72997210
26Generalized aminoaciduria (HP:0002909)2.72805462
27Pancreatic cysts (HP:0001737)2.72398633
28Respiratory failure (HP:0002878)2.69016930
29Optic disc pallor (HP:0000543)2.67908222
30Exertional dyspnea (HP:0002875)2.59136469
31Abnormality of the anterior horn cell (HP:0006802)2.58565834
32Degeneration of anterior horn cells (HP:0002398)2.58565834
33Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.58490944
34Pancreatic fibrosis (HP:0100732)2.52557920
35Type 2 muscle fiber atrophy (HP:0003554)2.45424329
36Abnormality of the labia minora (HP:0012880)2.42579591
37Aplastic anemia (HP:0001915)2.41937025
38Lethargy (HP:0001254)2.40871241
39Abnormality of glycolysis (HP:0004366)2.39342855
40Leukodystrophy (HP:0002415)2.37818520
41Septo-optic dysplasia (HP:0100842)2.35245407
42Increased muscle lipid content (HP:0009058)2.35075970
43Abnormality of midbrain morphology (HP:0002418)2.32599682
44Molar tooth sign on MRI (HP:0002419)2.32599682
45Abnormality of cells of the erythroid lineage (HP:0012130)2.29206456
46Poor suck (HP:0002033)2.28691994
47Hyperglycinemia (HP:0002154)2.28554771
48Reticulocytopenia (HP:0001896)2.25477361
49Medial flaring of the eyebrow (HP:0010747)2.25347383
50Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.22112128
51Muscle fiber atrophy (HP:0100295)2.19657532
52Glycosuria (HP:0003076)2.15358791
53Abnormality of urine glucose concentration (HP:0011016)2.15358791
54Type I transferrin isoform profile (HP:0003642)2.12661685
55Congenital, generalized hypertrichosis (HP:0004540)2.10454650
56Dicarboxylic aciduria (HP:0003215)2.07962719
57Abnormality of dicarboxylic acid metabolism (HP:0010995)2.07962719
58Microvesicular hepatic steatosis (HP:0001414)2.07329086
59Respiratory difficulties (HP:0002880)2.05365927
60CNS demyelination (HP:0007305)2.04941039
61Congenital primary aphakia (HP:0007707)2.03567152
62Abnormality of renal resorption (HP:0011038)2.03328996
63Emotional lability (HP:0000712)2.03184283
64Oral leukoplakia (HP:0002745)2.00924699
65Hypoglycemic coma (HP:0001325)2.00717427
66Intestinal atresia (HP:0011100)1.98483479
67Gait imbalance (HP:0002141)1.98247471
68Nephrogenic diabetes insipidus (HP:0009806)1.98107338
69Nausea (HP:0002018)1.97520576
70Delayed CNS myelination (HP:0002188)1.95195774
71Sclerocornea (HP:0000647)1.94568765
72Macrocytic anemia (HP:0001972)1.94343971
73Exercise-induced muscle cramps (HP:0003710)1.91274589
74X-linked dominant inheritance (HP:0001423)1.89214393
75Pancytopenia (HP:0001876)1.88322295
76Atrophy/Degeneration involving motor neurons (HP:0007373)1.87880522
77Nephronophthisis (HP:0000090)1.86966671
78Abnormality of serum amino acid levels (HP:0003112)1.86582659
79Abnormality of methionine metabolism (HP:0010901)1.86102974
80Hyperglycinuria (HP:0003108)1.84900575
81Shoulder girdle muscle weakness (HP:0003547)1.84105832
82Limb-girdle muscle atrophy (HP:0003797)1.83796333
83Pendular nystagmus (HP:0012043)1.83718386
84Amniotic constriction ring (HP:0009775)1.82095092
85Abnormality of placental membranes (HP:0011409)1.82095092
86Abnormality of aspartate family amino acid metabolism (HP:0010899)1.81802397
87Meckel diverticulum (HP:0002245)1.77653714
88Anencephaly (HP:0002323)1.77599236
89Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.75372776
90Abnormal protein N-linked glycosylation (HP:0012347)1.75372776
91Abnormal protein glycosylation (HP:0012346)1.75372776
92Abnormal glycosylation (HP:0012345)1.75372776
93Abolished electroretinogram (ERG) (HP:0000550)1.71916392
94Hyperphosphaturia (HP:0003109)1.71814305
95Absent septum pellucidum (HP:0001331)1.71308766
96Abnormality of serine family amino acid metabolism (HP:0010894)1.70931822
97Abnormality of glycine metabolism (HP:0010895)1.70931822
98Progressive microcephaly (HP:0000253)1.70621909
99Aplasia/hypoplasia of the uterus (HP:0008684)1.70496565
100Cerebral hypomyelination (HP:0006808)1.69107297

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.00750218
2SRPK13.00393964
3BUB12.93055739
4BCKDK2.84790266
5ZAK2.80507426
6CDC72.70392817
7VRK12.58570086
8TRIM282.53023997
9NUAK12.21972682
10MAP4K22.19775554
11STK162.03494703
12PLK31.98810402
13DYRK21.96765140
14WNK31.95827108
15NME11.90574002
16TSSK61.88366414
17PBK1.82068613
18NEK11.81449740
19CSNK1G11.66297651
20CSNK1G31.65751116
21MST41.60462167
22TAF11.60224183
23MKNK11.53287969
24CSNK1G21.53011963
25MAP3K41.50825277
26BCR1.48453175
27DYRK31.45438610
28BMPR1B1.45248840
29PLK41.41524094
30TNIK1.29190503
31MAP2K71.29054561
32CSNK1A1L1.27839934
33MKNK21.27388474
34GRK11.26746599
35ERBB31.24652091
36TTK1.22302503
37PINK11.20468962
38ADRBK21.19125672
39MUSK1.17939016
40CDK191.16532350
41PLK11.14387823
42WEE11.08198021
43MAPK131.04951116
44PNCK1.03531182
45PLK21.02601398
46TESK21.01127358
47CCNB11.00688342
48PASK0.95576597
49DAPK30.93187005
50PRKCE0.89227070
51ATR0.84914403
52MAP3K50.84292306
53PRKCG0.79982969
54TLK10.77160162
55NME20.73818897
56EIF2AK30.71571758
57UHMK10.71056528
58OXSR10.68626504
59RPS6KA50.68286253
60AURKB0.67621206
61CHEK20.65647437
62CSNK2A10.65098452
63KDR0.63829559
64LIMK10.63139591
65RPS6KA40.62582132
66INSRR0.59932668
67DAPK10.59515473
68AURKA0.59513711
69ATM0.58225894
70BRSK20.58202000
71PDK20.57271881
72CSNK2A20.57096996
73TIE10.56649334
74TAOK30.56546792
75EIF2AK10.52990698
76MAP3K120.52049551
77PIM20.51297002
78MAPKAPK30.50947464
79TXK0.50187062
80CASK0.49764918
81EPHA40.48578188
82CSNK1A10.47365264
83OBSCN0.46166064
84CAMK2A0.45303713
85SIK30.44389090
86CDK80.43091301
87MINK10.42858957
88MAPKAPK50.41398570
89CDK30.38395222
90ABL20.33161021
91PRKACA0.32415156
92EIF2AK20.32389968
93TGFBR10.32218843
94CSNK1E0.31360071
95BRSK10.30987242
96PAK30.29662979
97CAMK2D0.29583819
98STK40.29329575
99PRKACB0.29181371
100NEK20.28737219

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.32649604
2Proteasome_Homo sapiens_hsa030504.21494328
3Parkinsons disease_Homo sapiens_hsa050123.93225891
4Ribosome_Homo sapiens_hsa030103.18603360
5Protein export_Homo sapiens_hsa030602.93669665
6Mismatch repair_Homo sapiens_hsa034302.86209359
7RNA polymerase_Homo sapiens_hsa030202.83025358
8Huntingtons disease_Homo sapiens_hsa050162.75784687
9Alzheimers disease_Homo sapiens_hsa050102.51157619
10DNA replication_Homo sapiens_hsa030302.49359853
11Cardiac muscle contraction_Homo sapiens_hsa042602.44123869
12Spliceosome_Homo sapiens_hsa030402.17626446
13Homologous recombination_Homo sapiens_hsa034402.09325109
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.06364983
15Base excision repair_Homo sapiens_hsa034101.99166055
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.96876905
17Non-homologous end-joining_Homo sapiens_hsa034501.75427206
18RNA degradation_Homo sapiens_hsa030181.74979589
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.72364725
20Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.66753725
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.63338797
22Propanoate metabolism_Homo sapiens_hsa006401.60133261
23Basal transcription factors_Homo sapiens_hsa030221.57255373
24Nucleotide excision repair_Homo sapiens_hsa034201.51978946
25Fatty acid elongation_Homo sapiens_hsa000621.51973482
26RNA transport_Homo sapiens_hsa030131.51620124
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.49627157
28Fanconi anemia pathway_Homo sapiens_hsa034601.44102706
29Pyrimidine metabolism_Homo sapiens_hsa002401.43628786
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.38038015
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.30456491
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.21911411
33One carbon pool by folate_Homo sapiens_hsa006701.15502734
34Purine metabolism_Homo sapiens_hsa002301.15051361
35Folate biosynthesis_Homo sapiens_hsa007901.14499298
36Pyruvate metabolism_Homo sapiens_hsa006201.12788342
37Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.11514837
38Glutathione metabolism_Homo sapiens_hsa004801.10272707
392-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05948209
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.03901353
41Selenocompound metabolism_Homo sapiens_hsa004501.00236936
42Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.97369941
43Phototransduction_Homo sapiens_hsa047440.95843617
44Butanoate metabolism_Homo sapiens_hsa006500.90678797
45Sulfur relay system_Homo sapiens_hsa041220.89806240
46Peroxisome_Homo sapiens_hsa041460.89437194
47Biosynthesis of amino acids_Homo sapiens_hsa012300.86073339
48Steroid biosynthesis_Homo sapiens_hsa001000.82182564
49Carbon metabolism_Homo sapiens_hsa012000.80857049
50Metabolic pathways_Homo sapiens_hsa011000.78896962
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.75965369
52Cell cycle_Homo sapiens_hsa041100.69632378
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.68126606
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66810823
55Primary bile acid biosynthesis_Homo sapiens_hsa001200.65708036
56Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.64029980
57Nicotine addiction_Homo sapiens_hsa050330.61705765
58Tryptophan metabolism_Homo sapiens_hsa003800.61640569
59beta-Alanine metabolism_Homo sapiens_hsa004100.59332005
60Regulation of autophagy_Homo sapiens_hsa041400.57146439
61Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56641674
62Sulfur metabolism_Homo sapiens_hsa009200.53632918
63Collecting duct acid secretion_Homo sapiens_hsa049660.52403576
64Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.51324876
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.51121980
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.48647771
67Maturity onset diabetes of the young_Homo sapiens_hsa049500.46992550
68Fatty acid metabolism_Homo sapiens_hsa012120.46163035
69mRNA surveillance pathway_Homo sapiens_hsa030150.45814168
70Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.45003909
71Arginine and proline metabolism_Homo sapiens_hsa003300.44851379
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44431752
73Oocyte meiosis_Homo sapiens_hsa041140.43211821
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.42399022
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.40111063
76Basal cell carcinoma_Homo sapiens_hsa052170.38666432
77Taste transduction_Homo sapiens_hsa047420.37913180
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37426098
79Systemic lupus erythematosus_Homo sapiens_hsa053220.32226894
80Chemical carcinogenesis_Homo sapiens_hsa052040.32168009
81Fatty acid degradation_Homo sapiens_hsa000710.31329685
82Hedgehog signaling pathway_Homo sapiens_hsa043400.27773682
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27029159
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.25415369
85Linoleic acid metabolism_Homo sapiens_hsa005910.23677731
86Vitamin digestion and absorption_Homo sapiens_hsa049770.23668196
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.22737044
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22034477
89Vitamin B6 metabolism_Homo sapiens_hsa007500.21669486
90Nitrogen metabolism_Homo sapiens_hsa009100.20377608
91Epstein-Barr virus infection_Homo sapiens_hsa051690.19697019
92Alcoholism_Homo sapiens_hsa050340.19344016
93Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.18417920
94Arachidonic acid metabolism_Homo sapiens_hsa005900.18260770
95Retinol metabolism_Homo sapiens_hsa008300.17234088
96GABAergic synapse_Homo sapiens_hsa047270.16400631
97Tyrosine metabolism_Homo sapiens_hsa003500.15854110
98Olfactory transduction_Homo sapiens_hsa047400.14586966
99N-Glycan biosynthesis_Homo sapiens_hsa005100.14176085
100Ether lipid metabolism_Homo sapiens_hsa005650.13677771

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