SS18L2

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: Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.24699783
2energy coupled proton transport, down electrochemical gradient (GO:0015985)6.30439033
3ATP synthesis coupled proton transport (GO:0015986)6.30439033
4chaperone-mediated protein transport (GO:0072321)5.53305565
5mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.46886428
6establishment of protein localization to mitochondrial membrane (GO:0090151)5.46066062
7respiratory electron transport chain (GO:0022904)5.07497270
8proteasome assembly (GO:0043248)5.00984396
9electron transport chain (GO:0022900)4.97173102
10protein neddylation (GO:0045116)4.93353628
11protein complex biogenesis (GO:0070271)4.75637343
12mitochondrial respiratory chain complex assembly (GO:0033108)4.60346052
13ribosomal small subunit assembly (GO:0000028)4.47731240
14viral transcription (GO:0019083)4.47558657
15termination of RNA polymerase III transcription (GO:0006386)4.46947986
16transcription elongation from RNA polymerase III promoter (GO:0006385)4.46947986
17exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.44278134
18nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.44049286
19mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.42493506
20mitochondrial respiratory chain complex I assembly (GO:0032981)4.42493506
21NADH dehydrogenase complex assembly (GO:0010257)4.42493506
22translational termination (GO:0006415)4.40307151
23SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.28165875
24negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.26684542
25cotranslational protein targeting to membrane (GO:0006613)4.26529760
26protein targeting to ER (GO:0045047)4.20045144
27chromatin remodeling at centromere (GO:0031055)4.06784287
28establishment of protein localization to endoplasmic reticulum (GO:0072599)4.02361820
29CENP-A containing nucleosome assembly (GO:0034080)3.98246984
30respiratory chain complex IV assembly (GO:0008535)3.98187114
31protein localization to endoplasmic reticulum (GO:0070972)3.94810775
32regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.90983838
33ribosomal large subunit biogenesis (GO:0042273)3.88381989
34positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.87862022
35negative regulation of ligase activity (GO:0051352)3.85174680
36negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.85174680
37ribosomal small subunit biogenesis (GO:0042274)3.84474418
38translational elongation (GO:0006414)3.81671446
39translation (GO:0006412)3.78862104
40cytochrome complex assembly (GO:0017004)3.72804308
41pseudouridine synthesis (GO:0001522)3.67015568
42maturation of SSU-rRNA (GO:0030490)3.66054926
43anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.65868234
44DNA deamination (GO:0045006)3.64177746
45RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.63252708
46tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.63252708
47regulation of cellular amino acid metabolic process (GO:0006521)3.60381257
48protein targeting to mitochondrion (GO:0006626)3.59847456
49rRNA modification (GO:0000154)3.59359894
50DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.58424103
51translational initiation (GO:0006413)3.56391702
52regulation of mitochondrial translation (GO:0070129)3.54573992
53signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.51410225
54signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.51410225
55signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.51410225
56spliceosomal snRNP assembly (GO:0000387)3.50409102
57signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.48555359
58intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.48555359
59ATP biosynthetic process (GO:0006754)3.45216464
60water-soluble vitamin biosynthetic process (GO:0042364)3.41712187
61establishment of protein localization to mitochondrion (GO:0072655)3.40650308
62regulation of mitotic spindle checkpoint (GO:1903504)3.40365477
63regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.40365477
64protein localization to mitochondrion (GO:0070585)3.40018093
65DNA double-strand break processing (GO:0000729)3.39732726
66signal transduction involved in DNA damage checkpoint (GO:0072422)3.37155924
67signal transduction involved in DNA integrity checkpoint (GO:0072401)3.37155924
68viral life cycle (GO:0019058)3.37094000
69establishment of integrated proviral latency (GO:0075713)3.37081816
70histone exchange (GO:0043486)3.36843021
71nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.34595009
72histone mRNA metabolic process (GO:0008334)3.34308130
73hydrogen ion transmembrane transport (GO:1902600)3.34108846
74signal transduction involved in cell cycle checkpoint (GO:0072395)3.33758941
75cellular protein complex disassembly (GO:0043624)3.33310886
76DNA damage response, detection of DNA damage (GO:0042769)3.31941799
77positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.31697183
78inner mitochondrial membrane organization (GO:0007007)3.31246480
79purine nucleoside triphosphate biosynthetic process (GO:0009145)3.26162707
80cellular component biogenesis (GO:0044085)3.25399454
81purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.22690157
82protein-cofactor linkage (GO:0018065)3.20509148
83rRNA processing (GO:0006364)3.19950287
84cullin deneddylation (GO:0010388)3.19946949
85positive regulation of ligase activity (GO:0051351)3.17921731
86purine nucleobase biosynthetic process (GO:0009113)3.14132687
87kinetochore assembly (GO:0051382)3.10917455
88rRNA metabolic process (GO:0016072)3.09543235
89maturation of 5.8S rRNA (GO:0000460)3.07757158
90nucleobase biosynthetic process (GO:0046112)3.06900798
91DNA catabolic process, exonucleolytic (GO:0000738)3.05225506
92oxidative phosphorylation (GO:0006119)3.00033405
93DNA replication-independent nucleosome organization (GO:0034724)2.98532885
94DNA replication-independent nucleosome assembly (GO:0006336)2.98532885
95proton transport (GO:0015992)2.98432084
96regulation of ubiquitin-protein transferase activity (GO:0051438)2.96673353
97nuclear-transcribed mRNA catabolic process (GO:0000956)2.95219839
98protein deneddylation (GO:0000338)2.94604885
99DNA replication checkpoint (GO:0000076)2.94042167
100mitochondrial transport (GO:0006839)2.92522598

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.46281083
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.89959124
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.57940463
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.32036489
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.38115733
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.32277877
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.32205029
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.30245196
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.19662581
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.06665867
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.06222921
12E2F4_17652178_ChIP-ChIP_JURKAT_Human3.04536247
13ELK1_19687146_ChIP-ChIP_HELA_Human2.93293201
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.83885894
15VDR_23849224_ChIP-Seq_CD4+_Human2.75189136
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.61462486
17FOXP3_21729870_ChIP-Seq_TREG_Human2.49111958
18E2F7_22180533_ChIP-Seq_HELA_Human2.46400194
19ELF1_17652178_ChIP-ChIP_JURKAT_Human2.45796523
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.30403781
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.26172324
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.23367871
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.05972435
24MYC_19079543_ChIP-ChIP_MESCs_Mouse2.04959305
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.02134582
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.98347801
27EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.97401640
28THAP11_20581084_ChIP-Seq_MESCs_Mouse1.91035386
29FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.87742826
30TTF2_22483619_ChIP-Seq_HELA_Human1.87275066
31MYC_18940864_ChIP-ChIP_HL60_Human1.86373788
32DCP1A_22483619_ChIP-Seq_HELA_Human1.82818030
33VDR_22108803_ChIP-Seq_LS180_Human1.80681528
34PADI4_21655091_ChIP-ChIP_MCF-7_Human1.79564569
35E2F1_18555785_ChIP-Seq_MESCs_Mouse1.78258223
36HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.76906164
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.72440220
38ZNF274_21170338_ChIP-Seq_K562_Hela1.70517006
39EWS_26573619_Chip-Seq_HEK293_Human1.63835162
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.63790104
41XRN2_22483619_ChIP-Seq_HELA_Human1.62653633
42GABP_19822575_ChIP-Seq_HepG2_Human1.60988465
43YY1_21170310_ChIP-Seq_MESCs_Mouse1.58379639
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.56474277
45POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.55112981
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.48816523
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44926348
48FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.44902262
49FLI1_27457419_Chip-Seq_LIVER_Mouse1.40331695
50FUS_26573619_Chip-Seq_HEK293_Human1.38538363
51POU5F1_16153702_ChIP-ChIP_HESCs_Human1.38524293
52MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.36878949
53CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.36434108
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.28821273
55ELK1_22589737_ChIP-Seq_MCF10A_Human1.28443957
56ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.28187911
57IRF1_19129219_ChIP-ChIP_H3396_Human1.24034047
58POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.20979765
59SOX2_16153702_ChIP-ChIP_HESCs_Human1.20076002
60* NANOG_16153702_ChIP-ChIP_HESCs_Human1.17083671
61E2F1_21310950_ChIP-Seq_MCF-7_Human1.14088924
62MYCN_18555785_ChIP-Seq_MESCs_Mouse1.13518269
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13089472
64SOX2_18555785_ChIP-Seq_MESCs_Mouse1.10034493
65IGF1R_20145208_ChIP-Seq_DFB_Human1.07584102
66SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.04349581
67MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04204496
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.03882355
69GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01641947
70CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.01569731
71TP53_22573176_ChIP-Seq_HFKS_Human0.98206287
72P300_19829295_ChIP-Seq_ESCs_Human0.95544349
73FOXM1_23109430_ChIP-Seq_U2OS_Human0.93953491
74CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93816173
75POU3F2_20337985_ChIP-ChIP_501MEL_Human0.93291222
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.92292992
77CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.90781189
78FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.90149920
79TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.88665137
80NANOG_18555785_ChIP-Seq_MESCs_Mouse0.88464328
81KDM5A_27292631_Chip-Seq_BREAST_Human0.86575383
82FOXA1_25329375_ChIP-Seq_VCAP_Human0.86413708
83FOXA1_27270436_Chip-Seq_PROSTATE_Human0.86413708
84E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.82726929
85SOX2_19829295_ChIP-Seq_ESCs_Human0.81861711
86NANOG_19829295_ChIP-Seq_ESCs_Human0.81861711
87AR_21909140_ChIP-Seq_LNCAP_Human0.81787791
88IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.81750233
89CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.81643093
90HTT_18923047_ChIP-ChIP_STHdh_Human0.80800285
91CTBP1_25329375_ChIP-Seq_LNCAP_Human0.80271543
92ZFP57_27257070_Chip-Seq_ESCs_Mouse0.79442507
93NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.78149549
94TAF15_26573619_Chip-Seq_HEK293_Human0.77815990
95NFE2_27457419_Chip-Seq_LIVER_Mouse0.76662845
96ERG_20887958_ChIP-Seq_HPC-7_Mouse0.76135097
97KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.75547468
98BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.74917211
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73738442
100BP1_19119308_ChIP-ChIP_Hs578T_Human0.72811448

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.51295633
2MP0008058_abnormal_DNA_repair3.29332050
3MP0003806_abnormal_nucleotide_metabolis3.06092373
4MP0008877_abnormal_DNA_methylation3.01736476
5MP0009379_abnormal_foot_pigmentation2.94747894
6MP0003693_abnormal_embryo_hatching2.78619032
7MP0003718_maternal_effect2.59561178
8MP0010094_abnormal_chromosome_stability2.54169955
9MP0004957_abnormal_blastocyst_morpholog2.48902405
10MP0003186_abnormal_redox_activity2.34551380
11MP0001529_abnormal_vocalization2.32314275
12MP0002102_abnormal_ear_morphology2.13658751
13MP0002938_white_spotting2.11031020
14MP0006036_abnormal_mitochondrial_physio2.02387053
15MP0006072_abnormal_retinal_apoptosis1.99020598
16MP0003111_abnormal_nucleus_morphology1.98665085
17MP0000372_irregular_coat_pigmentation1.96944547
18MP0002277_abnormal_respiratory_mucosa1.92313955
19MP0002736_abnormal_nociception_after1.91618848
20MP0003077_abnormal_cell_cycle1.88109279
21MP0005084_abnormal_gallbladder_morpholo1.87269451
22MP0008789_abnormal_olfactory_epithelium1.84814098
23MP0003786_premature_aging1.83237444
24MP0009697_abnormal_copulation1.81612341
25MP0006035_abnormal_mitochondrial_morpho1.76873953
26MP0001293_anophthalmia1.67376909
27MP0008007_abnormal_cellular_replicative1.67309481
28MP0004142_abnormal_muscle_tone1.64026420
29MP0002638_abnormal_pupillary_reflex1.62345008
30MP0003941_abnormal_skin_development1.61111389
31MP0003880_abnormal_central_pattern1.58174663
32MP0008932_abnormal_embryonic_tissue1.55338753
33MP0004147_increased_porphyrin_level1.49573528
34MP0003787_abnormal_imprinting1.45499395
35MP0003136_yellow_coat_color1.45347925
36MP0008875_abnormal_xenobiotic_pharmacok1.44281895
37MP0001968_abnormal_touch/_nociception1.40726974
38MP0001905_abnormal_dopamine_level1.39466061
39MP0008995_early_reproductive_senescence1.35201216
40MP0002837_dystrophic_cardiac_calcinosis1.33532327
41MP0005075_abnormal_melanosome_morpholog1.31310087
42MP0001485_abnormal_pinna_reflex1.29412236
43MP0008872_abnormal_physiological_respon1.28443764
44MP0003011_delayed_dark_adaptation1.28327045
45MP0003195_calcinosis1.24665114
46MP0005394_taste/olfaction_phenotype1.23850976
47MP0005499_abnormal_olfactory_system1.23850976
48MP0001984_abnormal_olfaction1.23810996
49MP0001188_hyperpigmentation1.22578453
50MP0005253_abnormal_eye_physiology1.19396438
51MP0003567_abnormal_fetal_cardiomyocyte1.17731528
52MP0003121_genomic_imprinting1.17138085
53MP0005551_abnormal_eye_electrophysiolog1.15517852
54MP0005671_abnormal_response_to1.14187100
55MP0005645_abnormal_hypothalamus_physiol1.13971894
56MP0006276_abnormal_autonomic_nervous1.13560820
57MP0000631_abnormal_neuroendocrine_gland1.11600689
58MP0002210_abnormal_sex_determination1.10622061
59MP0002132_abnormal_respiratory_system1.08794190
60MP0001764_abnormal_homeostasis1.04549673
61MP0002751_abnormal_autonomic_nervous1.00918663
62MP0005408_hypopigmentation0.99376784
63MP0009745_abnormal_behavioral_response0.98947882
64MP0005389_reproductive_system_phenotype0.98799721
65MP0009046_muscle_twitch0.98247815
66MP0002160_abnormal_reproductive_system0.97380314
67MP0001929_abnormal_gametogenesis0.94862915
68MP0002272_abnormal_nervous_system0.94236794
69MP0004133_heterotaxia0.92951725
70MP0000653_abnormal_sex_gland0.92166070
71MP0008057_abnormal_DNA_replication0.91333345
72MP0005410_abnormal_fertilization0.90449777
73MP0001145_abnormal_male_reproductive0.90297408
74MP0001919_abnormal_reproductive_system0.90085768
75MP0004145_abnormal_muscle_electrophysio0.89718964
76MP0003938_abnormal_ear_development0.88741495
77MP0005646_abnormal_pituitary_gland0.88508624
78MP0004742_abnormal_vestibular_system0.88038228
79MP0002163_abnormal_gland_morphology0.87481946
80MP0002653_abnormal_ependyma_morphology0.87013128
81MP0000049_abnormal_middle_ear0.86605925
82MP0002095_abnormal_skin_pigmentation0.85770249
83MP0003890_abnormal_embryonic-extraembry0.80827787
84MP0002090_abnormal_vision0.79068250
85MP0002138_abnormal_hepatobiliary_system0.73409037
86MP0001286_abnormal_eye_development0.71827239
87MP0003937_abnormal_limbs/digits/tail_de0.71720360
88MP0003698_abnormal_male_reproductive0.71550141
89MP0001119_abnormal_female_reproductive0.71353507
90MP0005379_endocrine/exocrine_gland_phen0.70069162
91MP0005636_abnormal_mineral_homeostasis0.68124107
92MP0000358_abnormal_cell_content/0.68035453
93MP0003315_abnormal_perineum_morphology0.67525666
94MP0002735_abnormal_chemical_nociception0.67303954
95MP0001486_abnormal_startle_reflex0.66553905
96MP0005332_abnormal_amino_acid0.65464351
97MP0005395_other_phenotype0.65346219
98MP0002233_abnormal_nose_morphology0.64813502
99MP0005195_abnormal_posterior_eye0.64409683
100MP0002822_catalepsy0.64215261

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.64852816
2Abnormal mitochondria in muscle tissue (HP:0008316)5.04891658
3Mitochondrial inheritance (HP:0001427)4.99468599
4Acute encephalopathy (HP:0006846)4.91405977
5Increased hepatocellular lipid droplets (HP:0006565)4.79097689
6Progressive macrocephaly (HP:0004481)4.75952176
7Increased CSF lactate (HP:0002490)4.49936294
8Lipid accumulation in hepatocytes (HP:0006561)4.36753099
9Hepatocellular necrosis (HP:0001404)4.16993395
10Renal Fanconi syndrome (HP:0001994)3.82851470
11Hepatic necrosis (HP:0002605)3.73543394
123-Methylglutaconic aciduria (HP:0003535)3.72512749
13Cerebral edema (HP:0002181)3.63414749
14Decreased activity of mitochondrial respiratory chain (HP:0008972)3.38545334
15Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.38545334
16Macrocytic anemia (HP:0001972)3.25518796
17Increased intramyocellular lipid droplets (HP:0012240)3.24287427
18Exertional dyspnea (HP:0002875)3.20438885
19Abnormal number of erythroid precursors (HP:0012131)3.17816924
20Abnormality of cells of the erythroid lineage (HP:0012130)3.14749555
21Congenital, generalized hypertrichosis (HP:0004540)3.11705831
22Aplastic anemia (HP:0001915)3.09676660
23Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.08489611
24Increased serum lactate (HP:0002151)3.06606357
25Lactic acidosis (HP:0003128)2.97131706
26Methylmalonic acidemia (HP:0002912)2.82531296
27Reticulocytopenia (HP:0001896)2.80037909
28Abnormality of the labia minora (HP:0012880)2.77954391
29Respiratory failure (HP:0002878)2.76546788
30Leukodystrophy (HP:0002415)2.70973883
31Oral leukoplakia (HP:0002745)2.66736786
32Optic disc pallor (HP:0000543)2.63936193
33Increased muscle lipid content (HP:0009058)2.61601234
34Colon cancer (HP:0003003)2.60425404
35Exercise intolerance (HP:0003546)2.58000838
36Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.53548048
37Septo-optic dysplasia (HP:0100842)2.52607798
38Pancreatic cysts (HP:0001737)2.49904727
39Abnormality of renal resorption (HP:0011038)2.46336446
40Pancreatic fibrosis (HP:0100732)2.45829159
41Respiratory difficulties (HP:0002880)2.41478702
42Lethargy (HP:0001254)2.38721437
43Methylmalonic aciduria (HP:0012120)2.35630050
44Abnormality of midbrain morphology (HP:0002418)2.35001142
45Molar tooth sign on MRI (HP:0002419)2.35001142
46Abnormality of methionine metabolism (HP:0010901)2.25049404
47Pallor (HP:0000980)2.22994833
48Megaloblastic anemia (HP:0001889)2.21874679
49Hyperglycinemia (HP:0002154)2.17714207
50Abnormality of aspartate family amino acid metabolism (HP:0010899)2.15275353
51Type I transferrin isoform profile (HP:0003642)2.14855540
52True hermaphroditism (HP:0010459)2.11599808
53Medial flaring of the eyebrow (HP:0010747)2.11284597
54Abnormality of serum amino acid levels (HP:0003112)2.10588218
55Degeneration of anterior horn cells (HP:0002398)2.08250355
56Abnormality of the anterior horn cell (HP:0006802)2.08250355
57Abnormality of urine glucose concentration (HP:0011016)2.05892531
58Glycosuria (HP:0003076)2.05892531
59Meckel diverticulum (HP:0002245)2.02296503
60Hyperphosphaturia (HP:0003109)2.01972906
61Pancytopenia (HP:0001876)2.00360473
62Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.92621665
63Abnormality of alanine metabolism (HP:0010916)1.92621665
64Hyperalaninemia (HP:0003348)1.92621665
65Absent septum pellucidum (HP:0001331)1.92366336
66Abnormality of the ileum (HP:0001549)1.90890743
67CNS demyelination (HP:0007305)1.90205891
68X-linked dominant inheritance (HP:0001423)1.87463811
69Hypoplasia of the pons (HP:0012110)1.86869879
70Abnormality of the pons (HP:0007361)1.85755341
71Hypothermia (HP:0002045)1.84431209
72Stenosis of the external auditory canal (HP:0000402)1.84415067
73Aplasia/Hypoplasia of the uvula (HP:0010293)1.84353254
74Absent thumb (HP:0009777)1.82633027
75Sclerocornea (HP:0000647)1.80156857
76Cleft eyelid (HP:0000625)1.79061324
77Abnormal lung lobation (HP:0002101)1.77334729
78Pendular nystagmus (HP:0012043)1.76426936
79Increased serum pyruvate (HP:0003542)1.75466986
80Abolished electroretinogram (ERG) (HP:0000550)1.74792381
81Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.73820008
82Abnormal protein N-linked glycosylation (HP:0012347)1.73820008
83Abnormal protein glycosylation (HP:0012346)1.73820008
84Abnormal glycosylation (HP:0012345)1.73820008
85Nephronophthisis (HP:0000090)1.72898365
86Abnormality of homocysteine metabolism (HP:0010919)1.72233233
87Homocystinuria (HP:0002156)1.72233233
88Birth length less than 3rd percentile (HP:0003561)1.71815350
89Congenital stationary night blindness (HP:0007642)1.70088270
90Generalized aminoaciduria (HP:0002909)1.69771373
91Abnormality of the preputium (HP:0100587)1.68888059
92Amniotic constriction ring (HP:0009775)1.68246794
93Abnormality of placental membranes (HP:0011409)1.68246794
94Aplasia/Hypoplasia of the sacrum (HP:0008517)1.67838063
95Triphalangeal thumb (HP:0001199)1.65654405
96Abnormality of chromosome stability (HP:0003220)1.64424538
97Abnormal biliary tract physiology (HP:0012439)1.64086557
98Bile duct proliferation (HP:0001408)1.64086557
99Cerebral hypomyelination (HP:0006808)1.63673377
100Cellular immunodeficiency (HP:0005374)1.63258620

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.40473351
2BUB13.57656320
3MST43.17224251
4STK162.76405158
5CDC72.75958691
6ZAK2.73446065
7VRK12.62342282
8NUAK12.42463575
9SRPK12.22017932
10EIF2AK32.14300195
11PBK2.12624480
12NME12.05886052
13MAP3K122.00866222
14NEK11.99424081
15WNK31.97487622
16PLK31.94209468
17EIF2AK11.93694135
18MAP4K21.93629912
19BMPR1B1.89784432
20TAF11.84414825
21TNIK1.66871981
22DYRK21.66536896
23MKNK21.56664627
24BRSK21.47788336
25TRIM281.45327721
26TTK1.43404585
27MKNK11.43387305
28TLK11.43151948
29NME21.41515872
30WEE11.38837149
31PLK41.38827540
32ADRBK21.32052525
33PLK11.20318369
34TSSK61.19958793
35GRK11.18735384
36PASK1.15351954
37OXSR11.15342059
38CDK191.15090069
39BCKDK1.03257038
40FRK0.98540718
41INSRR0.95480237
42DYRK30.92117367
43CSNK1G10.86505504
44CSNK1G30.86386835
45CCNB10.86372299
46TXK0.85452808
47ACVR1B0.84830283
48BCR0.82839767
49CSNK1G20.82118021
50AURKB0.81908241
51CHEK20.81795920
52EIF2AK20.78483754
53PINK10.77325976
54MAP3K40.76385588
55MAP2K70.71460260
56STK390.69828365
57ATR0.67622752
58RPS6KA50.66711714
59CSNK2A10.65614010
60CSNK2A20.65033439
61PRKCG0.64962236
62TEC0.60598143
63CASK0.57748034
64BRSK10.56442196
65AURKA0.55959174
66RPS6KA40.54682204
67DAPK10.53548734
68PLK20.51148959
69STK40.50420711
70ITK0.48926401
71CSNK1A1L0.48644323
72PNCK0.48132168
73KDR0.47475442
74CSNK1A10.46671662
75MINK10.45859315
76ERBB30.44880412
77DAPK30.43809583
78WNK40.43772431
79ATM0.43424851
80MAPK130.41777556
81ILK0.41484678
82PIM20.40961248
83TESK20.40220338
84PRKCI0.39980749
85PAK30.39432676
86ABL20.37667354
87CSNK1E0.37588773
88MYLK0.37262472
89PDK20.37129634
90MUSK0.36985228
91STK38L0.34799974
92PRKCQ0.34605346
93PRKCE0.33163594
94CDK30.31973035
95PIM10.31758532
96IKBKB0.31707110
97TGFBR10.30045886
98TIE10.29106613
99PRKACA0.29082279
100GRK70.28960182

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.48147457
2Proteasome_Homo sapiens_hsa030504.46645679
3Ribosome_Homo sapiens_hsa030104.43600112
4Parkinsons disease_Homo sapiens_hsa050123.82915831
5Protein export_Homo sapiens_hsa030603.28593979
6RNA polymerase_Homo sapiens_hsa030203.15551472
7Huntingtons disease_Homo sapiens_hsa050162.68050469
8Mismatch repair_Homo sapiens_hsa034302.58931741
9Alzheimers disease_Homo sapiens_hsa050102.46057880
10DNA replication_Homo sapiens_hsa030302.40173035
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.37096244
12Homologous recombination_Homo sapiens_hsa034402.32376979
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.19804072
14Spliceosome_Homo sapiens_hsa030402.11514076
15RNA degradation_Homo sapiens_hsa030181.96452898
16Basal transcription factors_Homo sapiens_hsa030221.79915905
17Nucleotide excision repair_Homo sapiens_hsa034201.71183342
18Cardiac muscle contraction_Homo sapiens_hsa042601.67591293
19Base excision repair_Homo sapiens_hsa034101.66876561
20RNA transport_Homo sapiens_hsa030131.62070741
21Pyrimidine metabolism_Homo sapiens_hsa002401.60970937
22One carbon pool by folate_Homo sapiens_hsa006701.57999411
23Fanconi anemia pathway_Homo sapiens_hsa034601.55573261
24Non-homologous end-joining_Homo sapiens_hsa034501.39112444
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.36518431
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.33985261
27Purine metabolism_Homo sapiens_hsa002301.21712727
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.19505531
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.17834446
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.16609585
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.15992876
32Propanoate metabolism_Homo sapiens_hsa006401.09907664
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08742922
34Folate biosynthesis_Homo sapiens_hsa007901.02583354
35Caffeine metabolism_Homo sapiens_hsa002321.01768391
36Pyruvate metabolism_Homo sapiens_hsa006201.01370082
37Selenocompound metabolism_Homo sapiens_hsa004500.95596422
38Cysteine and methionine metabolism_Homo sapiens_hsa002700.91792662
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91079030
40Fatty acid elongation_Homo sapiens_hsa000620.89940048
41Phototransduction_Homo sapiens_hsa047440.89899841
42Glutathione metabolism_Homo sapiens_hsa004800.87087533
43Cell cycle_Homo sapiens_hsa041100.84964272
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.84264584
45Collecting duct acid secretion_Homo sapiens_hsa049660.80861921
46Steroid biosynthesis_Homo sapiens_hsa001000.79870599
47Metabolic pathways_Homo sapiens_hsa011000.75446031
48Asthma_Homo sapiens_hsa053100.70053216
49Peroxisome_Homo sapiens_hsa041460.69684159
50Sulfur metabolism_Homo sapiens_hsa009200.66823457
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66241469
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.63755800
53Butanoate metabolism_Homo sapiens_hsa006500.62821377
54Primary immunodeficiency_Homo sapiens_hsa053400.61049690
55Chemical carcinogenesis_Homo sapiens_hsa052040.58302640
56Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55768843
57Allograft rejection_Homo sapiens_hsa053300.55761555
58Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55619641
59Graft-versus-host disease_Homo sapiens_hsa053320.55257078
60Vitamin B6 metabolism_Homo sapiens_hsa007500.55001336
61Tryptophan metabolism_Homo sapiens_hsa003800.54077480
62Linoleic acid metabolism_Homo sapiens_hsa005910.53164714
63Type I diabetes mellitus_Homo sapiens_hsa049400.52946463
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.52931596
65Drug metabolism - other enzymes_Homo sapiens_hsa009830.52702550
66mRNA surveillance pathway_Homo sapiens_hsa030150.52562316
67Autoimmune thyroid disease_Homo sapiens_hsa053200.52424944
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.51210797
69Systemic lupus erythematosus_Homo sapiens_hsa053220.50965096
70Intestinal immune network for IgA production_Homo sapiens_hsa046720.50529683
71Nitrogen metabolism_Homo sapiens_hsa009100.49919473
72Maturity onset diabetes of the young_Homo sapiens_hsa049500.49588037
73Regulation of autophagy_Homo sapiens_hsa041400.47221497
74Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47003642
75Rheumatoid arthritis_Homo sapiens_hsa053230.45609161
76Oocyte meiosis_Homo sapiens_hsa041140.45452014
77Vitamin digestion and absorption_Homo sapiens_hsa049770.45256968
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.43201277
79Primary bile acid biosynthesis_Homo sapiens_hsa001200.42418540
80Epstein-Barr virus infection_Homo sapiens_hsa051690.42258050
81Nicotine addiction_Homo sapiens_hsa050330.41436924
82Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.39224845
83Retinol metabolism_Homo sapiens_hsa008300.38018738
84Sulfur relay system_Homo sapiens_hsa041220.36115833
85Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35587390
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33992313
87p53 signaling pathway_Homo sapiens_hsa041150.33644374
88Antigen processing and presentation_Homo sapiens_hsa046120.29708957
89Olfactory transduction_Homo sapiens_hsa047400.29379538
90Arachidonic acid metabolism_Homo sapiens_hsa005900.27649754
91beta-Alanine metabolism_Homo sapiens_hsa004100.27533813
92Carbon metabolism_Homo sapiens_hsa012000.27193735
93Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.27041568
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26922926
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25563566
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.25217640
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.21572608
98Ether lipid metabolism_Homo sapiens_hsa005650.21531974
99N-Glycan biosynthesis_Homo sapiens_hsa005100.18451985
100Tyrosine metabolism_Homo sapiens_hsa003500.17151685

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