MTERF1

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 encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)5.28575625
2tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.32396481
3RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.32396481
4regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.12874892
5regulation of mitotic spindle checkpoint (GO:1903504)4.12874892
6respiratory chain complex IV assembly (GO:0008535)4.04878400
7DNA ligation (GO:0006266)3.92598184
8prenylation (GO:0097354)3.81865904
9protein prenylation (GO:0018342)3.81865904
10L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.71878181
11cullin deneddylation (GO:0010388)3.71148149
12cytochrome complex assembly (GO:0017004)3.68358800
13replication fork processing (GO:0031297)3.66756880
14chromatin remodeling at centromere (GO:0031055)3.58282378
15signal peptide processing (GO:0006465)3.54579976
16CENP-A containing nucleosome assembly (GO:0034080)3.54425052
17DNA catabolic process, exonucleolytic (GO:0000738)3.52159626
18negative regulation of DNA-dependent DNA replication (GO:2000104)3.44056152
19protein complex biogenesis (GO:0070271)3.43027357
20proteasome assembly (GO:0043248)3.37719657
21histone mRNA metabolic process (GO:0008334)3.37166920
22mitochondrial respiratory chain complex assembly (GO:0033108)3.32411963
23attachment of spindle microtubules to kinetochore (GO:0008608)3.31983737
24protein deneddylation (GO:0000338)3.25493194
25nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.23697404
26cellular ketone body metabolic process (GO:0046950)3.23285026
27protein localization to kinetochore (GO:0034501)3.21290831
28mitotic spindle checkpoint (GO:0071174)3.16869990
29negative regulation of DNA recombination (GO:0045910)3.16433505
30histone exchange (GO:0043486)3.16294068
31spindle checkpoint (GO:0031577)3.15960364
32recombinational repair (GO:0000725)3.15001260
33exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.13499246
34intraciliary transport (GO:0042073)3.12485252
35double-strand break repair via homologous recombination (GO:0000724)3.11510383
36L-methionine salvage (GO:0071267)3.10631221
37L-methionine biosynthetic process (GO:0071265)3.10631221
38amino acid salvage (GO:0043102)3.10631221
39maturation of 5.8S rRNA (GO:0000460)3.05537238
40microtubule anchoring (GO:0034453)3.03465275
41negative regulation of mitotic sister chromatid separation (GO:2000816)3.00313709
42negative regulation of sister chromatid segregation (GO:0033046)3.00313709
43negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.00313709
44negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.00313709
45negative regulation of mitotic sister chromatid segregation (GO:0033048)3.00313709
46double-strand break repair via nonhomologous end joining (GO:0006303)2.97922675
47non-recombinational repair (GO:0000726)2.97922675
48neural tube formation (GO:0001841)2.96398979
49ketone body metabolic process (GO:1902224)2.95099181
50somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.94663945
51somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.94663945
52isotype switching (GO:0045190)2.94663945
53establishment of integrated proviral latency (GO:0075713)2.93843203
54kinetochore organization (GO:0051383)2.93191380
55peptidyl-histidine modification (GO:0018202)2.92541233
56histone H2A acetylation (GO:0043968)2.92371099
57negative regulation of chromosome segregation (GO:0051985)2.91786411
58regulation of helicase activity (GO:0051095)2.89200038
59maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.88731081
60mitochondrial respiratory chain complex I assembly (GO:0032981)2.88572054
61NADH dehydrogenase complex assembly (GO:0010257)2.88572054
62mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.88572054
63somatic diversification of immune receptors via somatic mutation (GO:0002566)2.88430626
64somatic hypermutation of immunoglobulin genes (GO:0016446)2.88430626
65kinetochore assembly (GO:0051382)2.87295778
66ribosome assembly (GO:0042255)2.87229664
67rRNA modification (GO:0000154)2.86590156
68resolution of meiotic recombination intermediates (GO:0000712)2.84424842
69postreplication repair (GO:0006301)2.82734085
70regulation of mitochondrial translation (GO:0070129)2.82456675
71mitotic spindle assembly checkpoint (GO:0007094)2.82036466
72regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.80940627
73regulation of mitotic metaphase/anaphase transition (GO:0030071)2.80940627
74platelet dense granule organization (GO:0060155)2.80535771
75spindle assembly checkpoint (GO:0071173)2.79016593
76protein neddylation (GO:0045116)2.78907678
77metaphase plate congression (GO:0051310)2.77419225
78regulation of sister chromatid segregation (GO:0033045)2.76556329
79regulation of mitotic sister chromatid separation (GO:0010965)2.76556329
80regulation of mitotic sister chromatid segregation (GO:0033047)2.76556329
81rRNA methylation (GO:0031167)2.73689711
82regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.73609062
83regulation of DNA endoreduplication (GO:0032875)2.72449980
84DNA replication-independent nucleosome assembly (GO:0006336)2.71397183
85DNA replication-independent nucleosome organization (GO:0034724)2.71397183
86negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.70704514
87regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.70110881
88mitotic metaphase plate congression (GO:0007080)2.68446612
89acrosome assembly (GO:0001675)2.65109052
90RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.65014325
91tRNA processing (GO:0008033)2.60954515
92DNA integration (GO:0015074)2.60783602
93mannosylation (GO:0097502)2.60468559
94cilium morphogenesis (GO:0060271)2.59683298
95termination of RNA polymerase III transcription (GO:0006386)2.59612180
96transcription elongation from RNA polymerase III promoter (GO:0006385)2.59612180
97positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.59213997
98protein K11-linked ubiquitination (GO:0070979)2.58628679
99double-strand break repair (GO:0006302)2.58446105
100methionine biosynthetic process (GO:0009086)2.58316846

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.51718517
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.34960900
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.22339372
4SALL1_21062744_ChIP-ChIP_HESCs_Human3.06872176
5EST1_17652178_ChIP-ChIP_JURKAT_Human2.93795388
6ELK1_19687146_ChIP-ChIP_HELA_Human2.73752223
7ZNF274_21170338_ChIP-Seq_K562_Hela2.73335449
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.65300453
9E2F4_17652178_ChIP-ChIP_JURKAT_Human2.56072475
10VDR_22108803_ChIP-Seq_LS180_Human2.45554370
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.43782612
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.43410510
13FUS_26573619_Chip-Seq_HEK293_Human2.40259701
14IGF1R_20145208_ChIP-Seq_DFB_Human2.35448006
15TAF15_26573619_Chip-Seq_HEK293_Human2.29573547
16EWS_26573619_Chip-Seq_HEK293_Human2.29345380
17FLI1_27457419_Chip-Seq_LIVER_Mouse2.27705255
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.26749569
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.11100096
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10267819
21VDR_23849224_ChIP-Seq_CD4+_Human1.99475735
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.97558286
23GBX2_23144817_ChIP-Seq_PC3_Human1.94519348
24P300_19829295_ChIP-Seq_ESCs_Human1.90718593
25PADI4_21655091_ChIP-ChIP_MCF-7_Human1.89881421
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.84618756
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.82829596
28E2F7_22180533_ChIP-Seq_HELA_Human1.80363114
29PCGF2_27294783_Chip-Seq_ESCs_Mouse1.74265774
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74162467
31CREB1_15753290_ChIP-ChIP_HEK293T_Human1.65778937
32ETS1_20019798_ChIP-Seq_JURKAT_Human1.64353072
33FOXP3_21729870_ChIP-Seq_TREG_Human1.60686540
34IRF1_19129219_ChIP-ChIP_H3396_Human1.59804566
35GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58314482
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.58298830
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.57723557
38KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.56500650
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.54604160
40ER_23166858_ChIP-Seq_MCF-7_Human1.51376228
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.51014134
42JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.50339025
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.49284521
44POU5F1_16153702_ChIP-ChIP_HESCs_Human1.46434144
45EZH2_27294783_Chip-Seq_NPCs_Mouse1.43912310
46MYC_18940864_ChIP-ChIP_HL60_Human1.42804139
47FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.42174889
48YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41693553
49SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40046188
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37847979
51ELF1_17652178_ChIP-ChIP_JURKAT_Human1.33918531
52NFE2_27457419_Chip-Seq_LIVER_Mouse1.32553587
53SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30318712
54UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30259716
55SRF_21415370_ChIP-Seq_HL-1_Mouse1.28429840
56SMAD4_21799915_ChIP-Seq_A2780_Human1.27763476
57PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27200023
58MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25248942
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.24686320
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22966900
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.22451643
62CBP_20019798_ChIP-Seq_JUKART_Human1.17303498
63IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17303498
64RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.16254313
65HOXB4_20404135_ChIP-ChIP_EML_Mouse1.15540762
66STAT3_23295773_ChIP-Seq_U87_Human1.14920923
67TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12089295
68CRX_20693478_ChIP-Seq_RETINA_Mouse1.10062085
69NANOG_18555785_Chip-Seq_ESCs_Mouse1.09715435
70SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.08930450
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.08721147
72FOXM1_23109430_ChIP-Seq_U2OS_Human1.08535904
73CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08361520
74EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08283038
75KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07242300
76NANOG_19829295_ChIP-Seq_ESCs_Human1.05203986
77SOX2_19829295_ChIP-Seq_ESCs_Human1.05203986
78TOP2B_26459242_ChIP-Seq_MCF-7_Human1.04913628
79BCAT_22108803_ChIP-Seq_LS180_Human1.04868256
80SMAD3_21741376_ChIP-Seq_EPCs_Human1.04090164
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02957752
82POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02957752
83E2F1_21310950_ChIP-Seq_MCF-7_Human1.02624071
84EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02491689
85TP53_22573176_ChIP-Seq_HFKS_Human1.00486123
86DCP1A_22483619_ChIP-Seq_HELA_Human1.00222725
87TCF4_22108803_ChIP-Seq_LS180_Human0.99355165
88SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.98827530
89MYC_18555785_ChIP-Seq_MESCs_Mouse0.98277299
90SOX2_16153702_ChIP-ChIP_HESCs_Human0.98176505
91P53_22387025_ChIP-Seq_ESCs_Mouse0.97985139
92TCF4_23295773_ChIP-Seq_U87_Human0.97339530
93GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.97312797
94SALL4_22934838_ChIP-ChIP_CD34+_Human0.97245325
95AR_25329375_ChIP-Seq_VCAP_Human0.97080562
96OCT4_21477851_ChIP-Seq_ESCs_Mouse0.96936091
97FOXA1_21572438_ChIP-Seq_LNCaP_Human0.96327457
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.96316222
99ELK1_22589737_ChIP-Seq_MCF10A_Human0.96230820
100CDX2_22108803_ChIP-Seq_LS180_Human0.94420310

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair3.38879100
2MP0000372_irregular_coat_pigmentation3.26226178
3MP0008057_abnormal_DNA_replication3.24462567
4MP0000569_abnormal_digit_pigmentation3.10783228
5MP0010094_abnormal_chromosome_stability3.03302056
6MP0003136_yellow_coat_color2.93407117
7MP0003693_abnormal_embryo_hatching2.71827599
8MP0002102_abnormal_ear_morphology2.57813909
9MP0006072_abnormal_retinal_apoptosis2.51216051
10MP0008877_abnormal_DNA_methylation2.44390602
11MP0009697_abnormal_copulation2.37766169
12MP0002938_white_spotting2.16138421
13MP0002163_abnormal_gland_morphology2.10243139
14MP0006292_abnormal_olfactory_placode2.09146021
15MP0003890_abnormal_embryonic-extraembry2.04335268
16MP0003718_maternal_effect2.03369721
17MP0005253_abnormal_eye_physiology1.95091635
18MP0004957_abnormal_blastocyst_morpholog1.94951538
19MP0003077_abnormal_cell_cycle1.75593043
20MP0001529_abnormal_vocalization1.74601497
21MP0002837_dystrophic_cardiac_calcinosis1.67729761
22MP0001293_anophthalmia1.66315837
23MP0003786_premature_aging1.65972474
24MP0005551_abnormal_eye_electrophysiolog1.65614480
25MP0010386_abnormal_urinary_bladder1.62248776
26MP0005379_endocrine/exocrine_gland_phen1.59911902
27MP0005084_abnormal_gallbladder_morpholo1.58052166
28MP0003011_delayed_dark_adaptation1.56197545
29MP0003111_abnormal_nucleus_morphology1.55618874
30MP0002090_abnormal_vision1.51933059
31MP0008932_abnormal_embryonic_tissue1.48792926
32MP0008995_early_reproductive_senescence1.48530585
33MP0001984_abnormal_olfaction1.48315449
34MP0000427_abnormal_hair_cycle1.47982825
35MP0000383_abnormal_hair_follicle1.46723711
36MP0000631_abnormal_neuroendocrine_gland1.44763619
37MP0002638_abnormal_pupillary_reflex1.43794837
38MP0003880_abnormal_central_pattern1.43562205
39MP0002095_abnormal_skin_pigmentation1.43001367
40MP0001764_abnormal_homeostasis1.40232158
41MP0003195_calcinosis1.35942790
42MP0005645_abnormal_hypothalamus_physiol1.34574849
43MP0006035_abnormal_mitochondrial_morpho1.30814428
44MP0002928_abnormal_bile_duct1.29591548
45MP0008007_abnormal_cellular_replicative1.29266284
46MP0002751_abnormal_autonomic_nervous1.28027000
47MP0005174_abnormal_tail_pigmentation1.26838725
48MP0003646_muscle_fatigue1.26089817
49MP0006276_abnormal_autonomic_nervous1.23075838
50MP0003937_abnormal_limbs/digits/tail_de1.22952165
51MP0005075_abnormal_melanosome_morpholog1.21543633
52MP0004133_heterotaxia1.20829528
53MP0002736_abnormal_nociception_after1.20281443
54MP0008789_abnormal_olfactory_epithelium1.15761770
55MP0001485_abnormal_pinna_reflex1.14838122
56MP0003121_genomic_imprinting1.13759885
57MP0010678_abnormal_skin_adnexa1.13219040
58MP0002234_abnormal_pharynx_morphology1.13175879
59MP0000516_abnormal_urinary_system1.10323412
60MP0005367_renal/urinary_system_phenotyp1.10323412
61MP0005391_vision/eye_phenotype1.09587362
62MP0000647_abnormal_sebaceous_gland1.09228617
63MP0005646_abnormal_pituitary_gland1.06595057
64MP0001324_abnormal_eye_pigmentation1.04995242
65MP0001177_atelectasis1.01377307
66MP0004142_abnormal_muscle_tone1.00990058
67MP0010307_abnormal_tumor_latency1.00219702
68MP0003186_abnormal_redox_activity0.98718506
69MP0003943_abnormal_hepatobiliary_system0.98141555
70MP0003941_abnormal_skin_development0.96332226
71MP0003787_abnormal_imprinting0.95966480
72MP0004215_abnormal_myocardial_fiber0.92545649
73MP0001286_abnormal_eye_development0.91671064
74MP0001929_abnormal_gametogenesis0.91092653
75MP0003806_abnormal_nucleotide_metabolis0.87640746
76MP0002233_abnormal_nose_morphology0.84517290
77MP0008872_abnormal_physiological_respon0.84007051
78MP0002210_abnormal_sex_determination0.83174917
79MP0000653_abnormal_sex_gland0.82540138
80MP0006036_abnormal_mitochondrial_physio0.82419792
81MP0005171_absent_coat_pigmentation0.81899086
82MP0005195_abnormal_posterior_eye0.81593624
83MP0005408_hypopigmentation0.80381989
84MP0005187_abnormal_penis_morphology0.79897090
85MP0005395_other_phenotype0.79194836
86MP0003252_abnormal_bile_duct0.77637149
87MP0003119_abnormal_digestive_system0.76976333
88MP0000015_abnormal_ear_pigmentation0.74626390
89MP0002277_abnormal_respiratory_mucosa0.73684357
90MP0005220_abnormal_exocrine_pancreas0.72976008
91MP0005248_abnormal_Harderian_gland0.72684391
92MP0009046_muscle_twitch0.72635112
93MP0000358_abnormal_cell_content/0.72363291
94MP0001145_abnormal_male_reproductive0.72330435
95MP0001919_abnormal_reproductive_system0.71957566
96MP0002282_abnormal_trachea_morphology0.70935121
97MP0001119_abnormal_female_reproductive0.70246598
98MP0000371_diluted_coat_color0.69958908
99MP0002752_abnormal_somatic_nervous0.69531282
100MP0003755_abnormal_palate_morphology0.69272484

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.62270609
2Pancreatic fibrosis (HP:0100732)3.30110781
3Intestinal atresia (HP:0011100)3.29907810
4True hermaphroditism (HP:0010459)3.26669429
5Abnormality of the labia minora (HP:0012880)3.22814810
6Lipid accumulation in hepatocytes (HP:0006561)2.95602678
7Increased hepatocellular lipid droplets (HP:0006565)2.83979680
8Abnormality of alanine metabolism (HP:0010916)2.76618633
9Hyperalaninemia (HP:0003348)2.76618633
10Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.76618633
11Abnormality of chromosome stability (HP:0003220)2.75026098
12Acute necrotizing encephalopathy (HP:0006965)2.72879369
13Medial flaring of the eyebrow (HP:0010747)2.71549298
14Molar tooth sign on MRI (HP:0002419)2.68815469
15Abnormality of midbrain morphology (HP:0002418)2.68815469
16Aplasia/Hypoplasia of the uvula (HP:0010293)2.67068965
17Meckel diverticulum (HP:0002245)2.58811079
18Increased CSF lactate (HP:0002490)2.57771380
19Progressive macrocephaly (HP:0004481)2.56883381
20Nephronophthisis (HP:0000090)2.56424004
213-Methylglutaconic aciduria (HP:0003535)2.54321298
22Acute encephalopathy (HP:0006846)2.53743396
23Abolished electroretinogram (ERG) (HP:0000550)2.53739123
24Mitochondrial inheritance (HP:0001427)2.52253917
25Birth length less than 3rd percentile (HP:0003561)2.52179257
26Abnormality of the ileum (HP:0001549)2.50369086
27Methylmalonic acidemia (HP:0002912)2.48664533
28Volvulus (HP:0002580)2.45525425
29Abnormal mitochondria in muscle tissue (HP:0008316)2.42134021
30Renal cortical cysts (HP:0000803)2.39312685
31Abnormal lung lobation (HP:0002101)2.34991333
32Aplasia/Hypoplasia of the tongue (HP:0010295)2.31768715
33Attenuation of retinal blood vessels (HP:0007843)2.28776764
34Abnormality of the renal cortex (HP:0011035)2.27761165
35Chromsome breakage (HP:0040012)2.26301090
36Colon cancer (HP:0003003)2.25043250
37Chromosomal breakage induced by crosslinking agents (HP:0003221)2.24330901
38Hepatocellular necrosis (HP:0001404)2.23208123
39Bile duct proliferation (HP:0001408)2.21053261
40Abnormal biliary tract physiology (HP:0012439)2.21053261
41Sloping forehead (HP:0000340)2.19866702
42Abnormality of the renal medulla (HP:0100957)2.14677931
43Congenital primary aphakia (HP:0007707)2.12006597
44Hepatic necrosis (HP:0002605)2.11983687
45Small intestinal stenosis (HP:0012848)2.10510192
46Duodenal stenosis (HP:0100867)2.10510192
47Abnormality of the preputium (HP:0100587)2.09303241
48Abnormality of methionine metabolism (HP:0010901)2.08086756
49Abnormality of serum amino acid levels (HP:0003112)2.06359794
50Abnormality of aspartate family amino acid metabolism (HP:0010899)2.06133193
51Hypothermia (HP:0002045)2.05797716
52Medulloblastoma (HP:0002885)2.05042437
53Congenital, generalized hypertrichosis (HP:0004540)2.04827048
54Abnormality of the duodenum (HP:0002246)2.04341744
55Aplasia/Hypoplasia of the tibia (HP:0005772)2.03081126
56Methylmalonic aciduria (HP:0012120)2.02886932
57Gastrointestinal atresia (HP:0002589)2.01290136
58Sclerocornea (HP:0000647)1.99966058
59Genital tract atresia (HP:0001827)1.97375812
60Clubbing of toes (HP:0100760)1.97121619
61Nephrogenic diabetes insipidus (HP:0009806)1.96519427
62Chronic hepatic failure (HP:0100626)1.96390094
63Gait imbalance (HP:0002141)1.96243323
64Long clavicles (HP:0000890)1.95607392
65Furrowed tongue (HP:0000221)1.94796218
66Oligodactyly (hands) (HP:0001180)1.94530842
67Increased serum lactate (HP:0002151)1.94501947
68Hypoplasia of the pons (HP:0012110)1.92533170
69Supernumerary spleens (HP:0009799)1.92060358
70Postaxial foot polydactyly (HP:0001830)1.90378358
71Cerebral edema (HP:0002181)1.89374890
72Vaginal atresia (HP:0000148)1.89046274
73Preaxial hand polydactyly (HP:0001177)1.88303796
74Abnormality of the pons (HP:0007361)1.87812301
75Rhabdomyosarcoma (HP:0002859)1.86140943
76Hyperglycinemia (HP:0002154)1.86087305
77Abnormal hair whorl (HP:0010721)1.84436607
78Reduced antithrombin III activity (HP:0001976)1.79787097
79Cutaneous melanoma (HP:0012056)1.78780104
80Ketoacidosis (HP:0001993)1.77385527
81Tubulointerstitial nephritis (HP:0001970)1.77162874
82Dandy-Walker malformation (HP:0001305)1.76099917
83Abnormality of vitamin B metabolism (HP:0004340)1.75761847
84Glioma (HP:0009733)1.74948028
85Optic disc pallor (HP:0000543)1.74448892
86Short tibia (HP:0005736)1.74122032
87Thyroiditis (HP:0100646)1.73353245
88Abnormality of the vitamin B12 metabolism (HP:0004341)1.73016387
89Median cleft lip (HP:0000161)1.72467437
90Postaxial hand polydactyly (HP:0001162)1.71207727
91Anencephaly (HP:0002323)1.70338279
92Cystic liver disease (HP:0006706)1.69910921
93Pancreatic islet-cell hyperplasia (HP:0004510)1.68984599
94Type I transferrin isoform profile (HP:0003642)1.68110560
95Myelodysplasia (HP:0002863)1.67620665
96Renal Fanconi syndrome (HP:0001994)1.67116485
97Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.66991570
98Abnormal protein N-linked glycosylation (HP:0012347)1.66991570
99Abnormal protein glycosylation (HP:0012346)1.66991570
100Abnormal glycosylation (HP:0012345)1.66991570

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.22522617
2MAP4K23.27433225
3BMPR1B3.17525600
4MKNK22.85148855
5EIF2AK32.74838925
6SRPK12.61076999
7WNK32.59917562
8BUB12.44715071
9STK162.40633886
10TRIM282.39957157
11ZAK2.37597152
12MKNK12.36638814
13NUAK12.07576712
14NEK11.99803478
15TSSK61.94619011
16CDK191.92111885
17STK38L1.82879303
18ACVR1B1.80946442
19PLK31.78158600
20MST41.77480498
21INSRR1.73551255
22PBK1.72691864
23ERBB31.66640100
24WEE11.62540487
25BRSK21.62026607
26CDC71.60922498
27PLK41.56795391
28BCR1.56046277
29TNIK1.52139198
30PLK21.50602431
31EIF2AK11.49288693
32TTK1.33565009
33VRK11.22404212
34PLK11.10969436
35VRK21.09671515
36ADRBK21.08352637
37CCNB11.03220735
38MAP3K41.02477390
39TGFBR10.97940703
40MAPK130.97328221
41TAF10.96237651
42PASK0.94681557
43NLK0.94024423
44PDK20.93440067
45DYRK30.91223447
46MAP3K120.90699405
47CSNK1G10.89420880
48CHEK20.83180764
49OXSR10.81993296
50ATR0.81086042
51LATS10.79650979
52GRK10.74973430
53ATM0.74068544
54STK30.72522838
55FGFR20.70336079
56PINK10.69937884
57TLK10.69264430
58AKT30.67003700
59PRKCE0.66810512
60EIF2AK20.66452509
61CSNK1A1L0.64598045
62CSNK1G30.63936147
63CSNK1G20.63193103
64BRD40.61976608
65STK390.61617357
66DYRK20.59909102
67MAP2K70.59774348
68NME10.59538690
69YES10.59369116
70RPS6KA40.57944685
71AURKB0.57514944
72MARK30.56722826
73CDK30.56134671
74PIK3CA0.55240040
75BMPR20.52772227
76CASK0.49667969
77PAK30.49140658
78CDK80.46059951
79PRKCG0.46044964
80BCKDK0.45227132
81TEC0.44503680
82PNCK0.44446728
83OBSCN0.41077027
84MINK10.40553003
85NEK20.39121803
86BRSK10.38359860
87MUSK0.37841618
88CSNK1A10.37492961
89CSNK2A10.37045037
90RPS6KA50.36540697
91STK240.36302343
92CSNK2A20.36101822
93IRAK10.33734152
94CHEK10.33557573
95PRKACB0.31493112
96EPHA30.31186129
97FGFR10.31028496
98CSNK1D0.30882589
99ADRBK10.29528131
100CSNK1E0.28391074

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.98819129
2Protein export_Homo sapiens_hsa030603.76705035
3Proteasome_Homo sapiens_hsa030503.07696126
4Homologous recombination_Homo sapiens_hsa034402.81886651
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.80352973
6Non-homologous end-joining_Homo sapiens_hsa034502.78635317
7RNA polymerase_Homo sapiens_hsa030202.74809681
8Mismatch repair_Homo sapiens_hsa034302.71294266
9Basal transcription factors_Homo sapiens_hsa030222.66191067
10Fanconi anemia pathway_Homo sapiens_hsa034602.51856022
11Propanoate metabolism_Homo sapiens_hsa006402.33513900
12Oxidative phosphorylation_Homo sapiens_hsa001902.27808947
13Butanoate metabolism_Homo sapiens_hsa006502.20621548
14Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.16907744
15RNA degradation_Homo sapiens_hsa030181.99095131
16Parkinsons disease_Homo sapiens_hsa050121.90222460
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.84413370
18RNA transport_Homo sapiens_hsa030131.83386461
19Spliceosome_Homo sapiens_hsa030401.76771743
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.74849914
21DNA replication_Homo sapiens_hsa030301.69096471
22Nucleotide excision repair_Homo sapiens_hsa034201.65603668
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.63496198
24Selenocompound metabolism_Homo sapiens_hsa004501.60734933
25One carbon pool by folate_Homo sapiens_hsa006701.52557766
26Steroid biosynthesis_Homo sapiens_hsa001001.49967350
27Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.44776763
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.36201184
29Huntingtons disease_Homo sapiens_hsa050161.35255680
30Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.30509457
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.28062703
32Phototransduction_Homo sapiens_hsa047441.27348624
33Cell cycle_Homo sapiens_hsa041101.25503373
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.25468722
35Pyrimidine metabolism_Homo sapiens_hsa002401.16145833
36Purine metabolism_Homo sapiens_hsa002301.14286960
37Base excision repair_Homo sapiens_hsa034101.14048709
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.10563131
39Glutathione metabolism_Homo sapiens_hsa004801.06031434
40Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.04544478
41Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.04056535
42Alzheimers disease_Homo sapiens_hsa050101.01713179
43Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.01201507
44Tryptophan metabolism_Homo sapiens_hsa003800.97731741
45Peroxisome_Homo sapiens_hsa041460.97070446
46Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.92322908
47Chemical carcinogenesis_Homo sapiens_hsa052040.90575084
48mRNA surveillance pathway_Homo sapiens_hsa030150.88512692
49Pyruvate metabolism_Homo sapiens_hsa006200.85480552
50Regulation of autophagy_Homo sapiens_hsa041400.85307773
51Nitrogen metabolism_Homo sapiens_hsa009100.85023041
52Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.82282195
53Nicotine addiction_Homo sapiens_hsa050330.80236728
54Fatty acid elongation_Homo sapiens_hsa000620.78810066
55Oocyte meiosis_Homo sapiens_hsa041140.77740122
56Retinol metabolism_Homo sapiens_hsa008300.77662626
57Pentose and glucuronate interconversions_Homo sapiens_hsa000400.72587885
58Caffeine metabolism_Homo sapiens_hsa002320.71301670
59Maturity onset diabetes of the young_Homo sapiens_hsa049500.69418735
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.69294610
61Metabolic pathways_Homo sapiens_hsa011000.68086792
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.67590827
63p53 signaling pathway_Homo sapiens_hsa041150.67182385
64Taste transduction_Homo sapiens_hsa047420.62460862
65Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62214263
66Collecting duct acid secretion_Homo sapiens_hsa049660.62108291
67Vitamin B6 metabolism_Homo sapiens_hsa007500.59638309
68Linoleic acid metabolism_Homo sapiens_hsa005910.58766459
69Fatty acid metabolism_Homo sapiens_hsa012120.57910435
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.57539050
71Sulfur metabolism_Homo sapiens_hsa009200.57150665
72Ribosome_Homo sapiens_hsa030100.56375490
73Vitamin digestion and absorption_Homo sapiens_hsa049770.55029842
74Folate biosynthesis_Homo sapiens_hsa007900.54909660
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54250870
76Fatty acid degradation_Homo sapiens_hsa000710.53836812
77Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53275165
78Hedgehog signaling pathway_Homo sapiens_hsa043400.49617364
79Ether lipid metabolism_Homo sapiens_hsa005650.48413343
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.47368738
81alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.47319345
82Olfactory transduction_Homo sapiens_hsa047400.47020216
83Circadian rhythm_Homo sapiens_hsa047100.46600703
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43761507
85beta-Alanine metabolism_Homo sapiens_hsa004100.42266894
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40452676
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38141993
88Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.37077178
89Arachidonic acid metabolism_Homo sapiens_hsa005900.31810631
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.31411083
91Systemic lupus erythematosus_Homo sapiens_hsa053220.30672675
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30491499
93Cardiac muscle contraction_Homo sapiens_hsa042600.29061438
94Glycerolipid metabolism_Homo sapiens_hsa005610.28435796
95ABC transporters_Homo sapiens_hsa020100.27838163
96Alcoholism_Homo sapiens_hsa050340.27195906
97N-Glycan biosynthesis_Homo sapiens_hsa005100.26669801
98GABAergic synapse_Homo sapiens_hsa047270.25450446
99Serotonergic synapse_Homo sapiens_hsa047260.18724120
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.17928268

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