SSX2B

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: The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)6.72830019
2nuclear pore organization (GO:0006999)5.97906942
3negative regulation of retinoic acid receptor signaling pathway (GO:0048387)5.74432799
4synapsis (GO:0007129)5.49346617
5DNA methylation involved in gamete generation (GO:0043046)5.44411338
6resolution of meiotic recombination intermediates (GO:0000712)5.21793311
7DNA replication checkpoint (GO:0000076)5.19036636
8pore complex assembly (GO:0046931)5.14003043
9meiotic chromosome segregation (GO:0045132)4.86203410
10regulation of retinoic acid receptor signaling pathway (GO:0048385)4.78733821
11regulation of meiosis I (GO:0060631)4.73061340
12piRNA metabolic process (GO:0034587)4.50722658
13diterpenoid biosynthetic process (GO:0016102)4.46497551
14mitotic sister chromatid segregation (GO:0000070)4.16547391
15mitotic chromosome condensation (GO:0007076)4.05386461
16sister chromatid segregation (GO:0000819)4.03265803
17DNA unwinding involved in DNA replication (GO:0006268)3.98212496
18mitotic nuclear envelope disassembly (GO:0007077)3.94532997
19DNA replication initiation (GO:0006270)3.91745861
20regulation of histone H3-K4 methylation (GO:0051569)3.86324878
21homocysteine metabolic process (GO:0050667)3.79740165
22regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.74444903
23regulation of RNA export from nucleus (GO:0046831)3.74336079
24terpenoid biosynthetic process (GO:0016114)3.71496588
25formation of translation preinitiation complex (GO:0001731)3.71037031
26folic acid-containing compound biosynthetic process (GO:0009396)3.67211998
27membrane disassembly (GO:0030397)3.65255058
28nuclear envelope disassembly (GO:0051081)3.65255058
29microtubule depolymerization (GO:0007019)3.63912681
30regulation of translational fidelity (GO:0006450)3.62157170
31male meiosis (GO:0007140)3.60208202
32protein-cofactor linkage (GO:0018065)3.58085213
33tRNA aminoacylation for protein translation (GO:0006418)3.47043393
34somatic hypermutation of immunoglobulin genes (GO:0016446)3.43652944
35somatic diversification of immune receptors via somatic mutation (GO:0002566)3.43652944
36chromosome organization involved in meiosis (GO:0070192)3.40869582
37DNA strand elongation involved in DNA replication (GO:0006271)3.39664089
38oxidative phosphorylation (GO:0006119)3.39388961
39regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.36127218
40IMP biosynthetic process (GO:0006188)3.34915591
41amino acid activation (GO:0043038)3.34832633
42tRNA aminoacylation (GO:0043039)3.34832633
43intra-S DNA damage checkpoint (GO:0031573)3.30799411
44DNA strand elongation (GO:0022616)3.30649673
45purine nucleobase biosynthetic process (GO:0009113)3.29733011
46male meiosis I (GO:0007141)3.28050438
47tetrahydrofolate metabolic process (GO:0046653)3.27304144
48gas transport (GO:0015669)3.24717258
49telomere maintenance via semi-conservative replication (GO:0032201)3.23574219
50gonadal mesoderm development (GO:0007506)3.21645977
51regulation of mitotic spindle organization (GO:0060236)3.21331946
52proline biosynthetic process (GO:0006561)3.19175605
53mitotic metaphase plate congression (GO:0007080)3.18440659
54gene silencing by RNA (GO:0031047)3.17831174
55regulation of histone H3-K27 methylation (GO:0061085)3.14335603
56sphingosine metabolic process (GO:0006670)3.12141355
57mitotic recombination (GO:0006312)3.07483156
58transcription from mitochondrial promoter (GO:0006390)3.07219919
59proteasome assembly (GO:0043248)3.06312745
60chromosome segregation (GO:0007059)3.04278856
61protoporphyrinogen IX metabolic process (GO:0046501)3.02650738
62kinetochore organization (GO:0051383)3.02549718
63negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)3.00429935
64ribosome assembly (GO:0042255)2.99616720
65centriole replication (GO:0007099)2.99401252
66nucleobase biosynthetic process (GO:0046112)2.99092291
67regulation of chromosome segregation (GO:0051983)2.98373368
68regulation of centrosome cycle (GO:0046605)2.98202965
69mitotic spindle checkpoint (GO:0071174)2.96456503
70one-carbon compound transport (GO:0019755)2.95005066
71CENP-A containing nucleosome assembly (GO:0034080)2.94432582
72metaphase plate congression (GO:0051310)2.92906972
73telomere maintenance via recombination (GO:0000722)2.92600707
74ribosome biogenesis (GO:0042254)2.90874386
75chromosome condensation (GO:0030261)2.89974127
76DNA damage induced protein phosphorylation (GO:0006975)2.88309155
77mitotic sister chromatid cohesion (GO:0007064)2.87376403
78negative regulation of chromosome segregation (GO:0051985)2.86939153
79meiosis I (GO:0007127)2.86487024
80DNA topological change (GO:0006265)2.85915163
81regulation of histone methylation (GO:0031060)2.84672164
82regulation of DNA endoreduplication (GO:0032875)2.81846494
83mitotic spindle assembly checkpoint (GO:0007094)2.81111974
84pteridine-containing compound biosynthetic process (GO:0042559)2.81048364
85negative regulation of mitotic sister chromatid separation (GO:2000816)2.80028997
86negative regulation of sister chromatid segregation (GO:0033046)2.80028997
87negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.80028997
88negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.80028997
89negative regulation of mitotic sister chromatid segregation (GO:0033048)2.80028997
90cysteine metabolic process (GO:0006534)2.79958757
91protein localization to chromosome, centromeric region (GO:0071459)2.79726460
92tachykinin receptor signaling pathway (GO:0007217)2.78709553
93microtubule polymerization or depolymerization (GO:0031109)2.78593735
94lipopolysaccharide biosynthetic process (GO:0009103)2.78103424
95meiotic cell cycle process (GO:1903046)2.77412914
96spindle assembly checkpoint (GO:0071173)2.76735081
97positive regulation of histone H3-K4 methylation (GO:0051571)2.74568767
98chromatin remodeling at centromere (GO:0031055)2.73466457
99DNA packaging (GO:0006323)2.73432116
100vitamin A metabolic process (GO:0006776)2.73002396

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.04942411
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.30734354
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.67345855
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.52135857
5MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.35583928
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.06356953
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.87400914
8HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.82770766
9CREB1_15753290_ChIP-ChIP_HEK293T_Human2.81782254
10GABP_17652178_ChIP-ChIP_JURKAT_Human2.78841462
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.78526350
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.77082731
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.59584102
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.53127230
15SALL1_21062744_ChIP-ChIP_HESCs_Human2.45665913
16KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.31063324
17ELK1_19687146_ChIP-ChIP_HELA_Human2.28734332
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.21619593
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.15946810
20MYC_18358816_ChIP-ChIP_MESCs_Mouse2.15844710
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.15723058
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.05342607
23MYC_19030024_ChIP-ChIP_MESCs_Mouse1.99769836
24THAP11_20581084_ChIP-Seq_MESCs_Mouse1.98590615
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.97252382
26FOXP3_21729870_ChIP-Seq_TREG_Human1.96386758
27DCP1A_22483619_ChIP-Seq_HELA_Human1.95565220
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.94138868
29VDR_23849224_ChIP-Seq_CD4+_Human1.92730158
30E2F1_21310950_ChIP-Seq_MCF-7_Human1.92690002
31HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.92460904
32MYC_19079543_ChIP-ChIP_MESCs_Mouse1.92409093
33TTF2_22483619_ChIP-Seq_HELA_Human1.92300865
34AR_21909140_ChIP-Seq_LNCAP_Human1.87389553
35YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85664520
36PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.83681363
37XRN2_22483619_ChIP-Seq_HELA_Human1.82104058
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.80612062
39IGF1R_20145208_ChIP-Seq_DFB_Human1.78204061
40VDR_22108803_ChIP-Seq_LS180_Human1.77838904
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.77755819
42NCOR1_26117541_ChIP-Seq_K562_Human1.71313068
43FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.70079179
44ZNF274_21170338_ChIP-Seq_K562_Hela1.69396320
45RBPJ_22232070_ChIP-Seq_NCS_Mouse1.65679522
46HOXB4_20404135_ChIP-ChIP_EML_Mouse1.62333689
47NELFA_20434984_ChIP-Seq_ESCs_Mouse1.60737582
48KDM5A_27292631_Chip-Seq_BREAST_Human1.60453632
49GABP_19822575_ChIP-Seq_HepG2_Human1.59024535
50POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.58992357
51MYCN_18555785_ChIP-Seq_MESCs_Mouse1.58260618
52CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.48292141
53PADI4_21655091_ChIP-ChIP_MCF-7_Human1.43629536
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.41553429
55GATA1_19941826_ChIP-Seq_K562_Human1.37073584
56ELF1_17652178_ChIP-ChIP_JURKAT_Human1.24843355
57MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.23892707
58PHF8_20622853_ChIP-Seq_HELA_Human1.22872344
59PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.22225487
60CIITA_25753668_ChIP-Seq_RAJI_Human1.21353780
61ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.20832335
62CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.20658455
63ZNF263_19887448_ChIP-Seq_K562_Human1.17592812
64CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.17485811
65YY1_21170310_ChIP-Seq_MESCs_Mouse1.11199360
66KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.08618595
67KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.08618595
68KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.08618595
69MYC_18940864_ChIP-ChIP_HL60_Human1.07691278
70RBPJ_21746931_ChIP-Seq_IB4_Human1.06743035
71GATA6_21074721_ChIP-Seq_CACO-2_Human1.05882199
72E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05604668
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.05425059
74ZFX_18555785_ChIP-Seq_MESCs_Mouse1.05262648
75GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.03679741
76GATA2_19941826_ChIP-Seq_K562_Human1.03446211
77HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.02874186
78SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.02315835
79ETV1_20927104_ChIP-Seq_GIST48_Human1.00928307
80HNFA_21074721_ChIP-Seq_CACO-2_Human0.98101823
81NFYB_21822215_ChIP-Seq_K562_Human0.97376111
82CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.95931604
83SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.93752658
84TFEB_21752829_ChIP-Seq_HELA_Human0.92037284
85ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90167191
86NOTCH1_21737748_ChIP-Seq_TLL_Human0.86919259
87PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.85549742
88NFYA_21822215_ChIP-Seq_K562_Human0.85506662
89GATA1_22025678_ChIP-Seq_K562_Human0.85245098
90POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.84730865
91BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.84517731
92CBX2_22325352_ChIP-Seq_293T-Rex_Human0.84115473
93ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.83420686
94CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.82907134
95NANOG_18555785_ChIP-Seq_MESCs_Mouse0.82496383
96SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.79774255
97POU3F2_20337985_ChIP-ChIP_501MEL_Human0.78456545
98ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.77043654
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.75883586
100CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.75212427

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level5.14941924
2MP0004957_abnormal_blastocyst_morpholog3.82074659
3MP0008058_abnormal_DNA_repair3.55699219
4MP0003693_abnormal_embryo_hatching3.50581113
5MP0010094_abnormal_chromosome_stability3.30966220
6MP0009697_abnormal_copulation3.16393237
7MP0003111_abnormal_nucleus_morphology3.04397760
8MP0008057_abnormal_DNA_replication2.93514289
9MP0003718_maternal_effect2.77704748
10MP0008995_early_reproductive_senescence2.74003943
11MP0003136_yellow_coat_color2.63735656
12MP0003646_muscle_fatigue2.53480723
13MP0002837_dystrophic_cardiac_calcinosis2.50740820
14MP0008932_abnormal_embryonic_tissue2.36190252
15MP0005171_absent_coat_pigmentation2.22619603
16MP0005451_abnormal_body_composition2.20317357
17MP0003077_abnormal_cell_cycle2.20214449
18MP0003890_abnormal_embryonic-extraembry2.03486575
19MP0002210_abnormal_sex_determination1.95707046
20MP0001929_abnormal_gametogenesis1.87061194
21MP0003786_premature_aging1.86956099
22MP0004233_abnormal_muscle_weight1.84614863
23MP0003656_abnormal_erythrocyte_physiolo1.84486580
24MP0008877_abnormal_DNA_methylation1.76133487
25MP0000372_irregular_coat_pigmentation1.70147941
26MP0006036_abnormal_mitochondrial_physio1.67298134
27MP0006292_abnormal_olfactory_placode1.63810037
28MP0003806_abnormal_nucleotide_metabolis1.59783075
29MP0004145_abnormal_muscle_electrophysio1.58879365
30MP0003186_abnormal_redox_activity1.58629450
31MP0006035_abnormal_mitochondrial_morpho1.56603032
32MP0000678_abnormal_parathyroid_gland1.55354651
33MP0005083_abnormal_biliary_tract1.53012881
34MP0001730_embryonic_growth_arrest1.50476760
35MP0008007_abnormal_cellular_replicative1.47701816
36MP0001145_abnormal_male_reproductive1.43561383
37MP0003698_abnormal_male_reproductive1.42149037
38MP0001697_abnormal_embryo_size1.40647630
39MP0000653_abnormal_sex_gland1.39888735
40MP0001672_abnormal_embryogenesis/_devel1.30913277
41MP0005380_embryogenesis_phenotype1.30913277
42MP0005085_abnormal_gallbladder_physiolo1.29024711
43MP0010307_abnormal_tumor_latency1.28907249
44MP0003195_calcinosis1.22707941
45MP0001764_abnormal_homeostasis1.21450749
46MP0005365_abnormal_bile_salt1.19309886
47MP0005395_other_phenotype1.15615975
48MP0005174_abnormal_tail_pigmentation1.14488514
49MP0002080_prenatal_lethality1.13330869
50MP0000350_abnormal_cell_proliferation1.12607167
51MP0002095_abnormal_skin_pigmentation1.07467713
52MP0002084_abnormal_developmental_patter1.05009875
53MP0002132_abnormal_respiratory_system1.04735383
54MP0005410_abnormal_fertilization1.04111151
55MP0003984_embryonic_growth_retardation1.03489494
56MP0002139_abnormal_hepatobiliary_system1.02224634
57MP0005636_abnormal_mineral_homeostasis1.01867636
58MP0002088_abnormal_embryonic_growth/wei1.00606655
59MP0002160_abnormal_reproductive_system0.98988054
60MP0001661_extended_life_span0.98728496
61MP0003959_abnormal_lean_body0.98010026
62MP0001545_abnormal_hematopoietic_system0.97805132
63MP0005397_hematopoietic_system_phenotyp0.97805132
64MP0005332_abnormal_amino_acid0.97569115
65MP0002161_abnormal_fertility/fecundity0.97196754
66MP0000015_abnormal_ear_pigmentation0.97193149
67MP0000569_abnormal_digit_pigmentation0.96051310
68MP0002086_abnormal_extraembryonic_tissu0.95169431
69MP0008770_decreased_survivor_rate0.94782981
70MP0003385_abnormal_body_wall0.92821072
71MP0000313_abnormal_cell_death0.92213766
72MP0002085_abnormal_embryonic_tissue0.88860076
73MP0000358_abnormal_cell_content/0.87530662
74MP0008775_abnormal_heart_ventricle0.86774678
75MP0004019_abnormal_vitamin_homeostasis0.86618512
76MP0000647_abnormal_sebaceous_gland0.84508637
77MP0001529_abnormal_vocalization0.83949392
78MP0002396_abnormal_hematopoietic_system0.83617993
79MP0002269_muscular_atrophy0.81573850
80MP0002938_white_spotting0.81098889
81MP0003937_abnormal_limbs/digits/tail_de0.80923554
82MP0001119_abnormal_female_reproductive0.76631249
83MP0003699_abnormal_female_reproductive0.76228463
84MP0002653_abnormal_ependyma_morphology0.75116070
85MP0005408_hypopigmentation0.73982242
86MP0005551_abnormal_eye_electrophysiolog0.72019626
87MP0005187_abnormal_penis_morphology0.70935304
88MP0005645_abnormal_hypothalamus_physiol0.70211384
89MP0008872_abnormal_physiological_respon0.70015295
90MP0004043_abnormal_pH_regulation0.68131937
91MP0004197_abnormal_fetal_growth/weight/0.59237224
92MP0003943_abnormal_hepatobiliary_system0.55418164
93MP0002163_abnormal_gland_morphology0.55344802
94MP0005670_abnormal_white_adipose0.55214385
95MP0000609_abnormal_liver_physiology0.54898637
96MP0001986_abnormal_taste_sensitivity0.54237369
97MP0005389_reproductive_system_phenotype0.53161984
98MP0000631_abnormal_neuroendocrine_gland0.53018042
99MP0005330_cardiomyopathy0.51862592
100MP0004215_abnormal_myocardial_fiber0.51850666

Predicted human phenotypes

RankGene SetZ-score
1Truncus arteriosus (HP:0001660)4.86542049
2Abnormal gallbladder physiology (HP:0012438)4.72060811
3Cholecystitis (HP:0001082)4.72060811
4Chromsome breakage (HP:0040012)4.13686811
5Birth length less than 3rd percentile (HP:0003561)4.10749928
6Chromosomal breakage induced by crosslinking agents (HP:0003221)4.04186649
7Acanthocytosis (HP:0001927)3.99644589
8Reticulocytosis (HP:0001923)3.92756710
9Poikilocytosis (HP:0004447)3.72195493
10Abnormality of reticulocytes (HP:0004312)3.47396864
11Polycythemia (HP:0001901)3.47392242
12Abnormality of the heme biosynthetic pathway (HP:0010472)3.42035589
13Hyperthyroidism (HP:0000836)3.25163410
14Homocystinuria (HP:0002156)3.21488698
15Abnormality of homocysteine metabolism (HP:0010919)3.21488698
16Cortical dysplasia (HP:0002539)3.09054806
17Increased serum pyruvate (HP:0003542)3.06052593
18Abnormality of glycolysis (HP:0004366)3.00270577
19Ileus (HP:0002595)2.98426022
20Bowel incontinence (HP:0002607)2.95846130
21Ankyloglossia (HP:0010296)2.93738534
22Abnormality of macular pigmentation (HP:0008002)2.89023625
23Abnormal large intestine physiology (HP:0012700)2.86366952
24Aplasia/Hypoplasia of the uvula (HP:0010293)2.86250560
25Abnormal hemoglobin (HP:0011902)2.75252014
26Tinnitus (HP:0000360)2.62043760
27Hyperbilirubinemia (HP:0002904)2.61234816
28Duplicated collecting system (HP:0000081)2.59760107
29Abnormality of cochlea (HP:0000375)2.54271635
30Acute myeloid leukemia (HP:0004808)2.53387218
31Reticulocytopenia (HP:0001896)2.51637190
32Abnormality of the renal collecting system (HP:0004742)2.50012276
33Upper limb muscle weakness (HP:0003484)2.49070921
34Overlapping toe (HP:0001845)2.48586422
35Pallor (HP:0000980)2.46335778
36Volvulus (HP:0002580)2.43977212
37Abnormality of sulfur amino acid metabolism (HP:0004339)2.38984374
38Small intestinal stenosis (HP:0012848)2.38099008
39Duodenal stenosis (HP:0100867)2.38099008
40Central scotoma (HP:0000603)2.36403008
41Seborrheic dermatitis (HP:0001051)2.27248060
42Nonimmune hydrops fetalis (HP:0001790)2.23103103
43Abnormality of the preputium (HP:0100587)2.21671697
44Cholelithiasis (HP:0001081)2.19277769
45Aplastic anemia (HP:0001915)2.19008473
46Limb hypertonia (HP:0002509)2.15832695
47Hypoparathyroidism (HP:0000829)2.14654999
48Scotoma (HP:0000575)2.13714155
49Myelodysplasia (HP:0002863)2.11639969
50Aplasia/Hypoplasia of the earlobes (HP:0009906)2.09433188
51Increased nuchal translucency (HP:0010880)2.06743015
52Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.06403705
53Microvesicular hepatic steatosis (HP:0001414)2.04732282
54Redundant skin (HP:0001582)2.04308205
55Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.03978048
56Abnormal gallbladder morphology (HP:0012437)2.03882310
57Type II lissencephaly (HP:0007260)1.98042221
58Ependymoma (HP:0002888)1.96485886
59Retinal dysplasia (HP:0007973)1.95910189
60Severe visual impairment (HP:0001141)1.95830486
61Horseshoe kidney (HP:0000085)1.95718020
62Type I transferrin isoform profile (HP:0003642)1.95491152
63Short middle phalanx of the 5th finger (HP:0004220)1.94260609
64Hypertensive crisis (HP:0100735)1.92578450
65Small hand (HP:0200055)1.92278878
66Osteomalacia (HP:0002749)1.91876824
67Septate vagina (HP:0001153)1.90288269
68Abnormality of aromatic amino acid family metabolism (HP:0004338)1.89755852
69Abnormality of chromosome stability (HP:0003220)1.89726610
70Abnormality of DNA repair (HP:0003254)1.89430815
71Abnormality of the duodenum (HP:0002246)1.88753200
72Increased serum lactate (HP:0002151)1.87307167
73Premature ovarian failure (HP:0008209)1.86139975
74Abnormality of the labia minora (HP:0012880)1.85994157
75Abnormality of oral frenula (HP:0000190)1.85436104
76Morphological abnormality of the inner ear (HP:0011390)1.85135955
77CNS hypomyelination (HP:0003429)1.85050141
78Orthostatic hypotension (HP:0001278)1.84530883
79Ectopic kidney (HP:0000086)1.82793779
80Meckel diverticulum (HP:0002245)1.82444806
81Ureteral duplication (HP:0000073)1.82242574
82Cerebral hemorrhage (HP:0001342)1.79630852
83Abnormal lung lobation (HP:0002101)1.78897664
84Poikiloderma (HP:0001029)1.77039566
85Hyperammonemia (HP:0001987)1.75044651
86Abnormality of methionine metabolism (HP:0010901)1.75040367
87Abnormality of the ileum (HP:0001549)1.73781384
88Abnormality of the tricuspid valve (HP:0001702)1.73224095
89Autoamputation (HP:0001218)1.71883646
90Atelectasis (HP:0100750)1.70737334
91Glioma (HP:0009733)1.69662849
92Cerebral hypomyelination (HP:0006808)1.69633136
93Acute encephalopathy (HP:0006846)1.69083436
94Cerebellar dysplasia (HP:0007033)1.68742619
95Pancreatic islet-cell hyperplasia (HP:0004510)1.68144296
96Abnormal protein glycosylation (HP:0012346)1.67425402
97Abnormal glycosylation (HP:0012345)1.67425402
98Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.67425402
99Abnormal protein N-linked glycosylation (HP:0012347)1.67425402
100Peripheral hypomyelination (HP:0007182)1.66906643

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTK4.12011188
2LATS13.15207817
3EIF2AK13.12037843
4KSR22.98818511
5NTRK32.81339331
6PBK2.64185026
7ZAK2.59197040
8MAP3K22.55585311
9CLK12.49353556
10ACVR1B2.37856941
11BRSK22.34553706
12WEE12.25566063
13BUB12.23698754
14RIPK42.15991373
15CDC72.14877880
16STK32.10083323
17NEK12.05756026
18EIF2AK32.05708559
19SRPK12.02161142
20LATS22.01565463
21PDK22.00998461
22STK38L2.00833164
23PLK41.92738689
24NEK21.92043583
25BMPR21.86943864
26RAF11.83604536
27MST41.69575671
28WNK41.63708506
29TSSK61.58119332
30MAP3K41.50574610
31CCNB11.45990580
32NME11.41171188
33PLK31.38642645
34KSR11.37015038
35CHEK21.36516289
36NEK61.29291017
37BRSK11.23827406
38PLK11.23266292
39ATR1.22173024
40EEF2K1.19984699
41CDK121.14520593
42PIK3CG1.14502301
43MAP3K81.12557044
44FRK1.09949162
45RPS6KB21.02619289
46PNCK1.01722052
47WNK10.98338212
48BMX0.93402674
49ATM0.90737800
50CHEK10.89681508
51MATK0.83764229
52BRD40.80919540
53CDK10.73378816
54MKNK10.69493301
55TRPM70.68410987
56MAP2K10.65963627
57JAK20.62916395
58YES10.62855247
59ICK0.62712225
60MAPKAPK50.62444905
61AURKB0.62275924
62TEC0.61333814
63DYRK30.60563370
64ALK0.55425169
65CDK20.55319889
66PRKAA20.53149622
67PINK10.51266084
68CSNK2A20.49293874
69STK40.48876209
70BRAF0.48741999
71BMPR1B0.48506864
72MAPKAPK30.45418340
73EIF2AK20.45315147
74JAK30.43204009
75CSNK1E0.43120504
76CSNK2A10.40280775
77RET0.40117193
78NUAK10.38280650
79MAP2K20.36127083
80CDK30.35885079
81PLK20.35725567
82MKNK20.35490347
83AURKA0.34579748
84CDK70.33976707
85AKT30.33822499
86STK380.33467530
87MARK30.33447947
88PAK10.32667679
89INSRR0.32056579
90PRKDC0.31288464
91SCYL20.30281630
92PASK0.28258644
93MAP2K70.28062660
94GSK3B0.26622372
95IRAK30.26569092
96STK240.25706522
97STK160.25203966
98PIM10.24476161
99RPS6KB10.23888532
100MAP4K20.23805336

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.80110639
2Mismatch repair_Homo sapiens_hsa034303.40275668
3One carbon pool by folate_Homo sapiens_hsa006703.30324888
4DNA replication_Homo sapiens_hsa030303.17298268
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.98032729
6Basal transcription factors_Homo sapiens_hsa030222.86886904
7Homologous recombination_Homo sapiens_hsa034402.79340009
8RNA transport_Homo sapiens_hsa030132.48912217
9Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.44368173
10Cell cycle_Homo sapiens_hsa041102.23134449
11Fanconi anemia pathway_Homo sapiens_hsa034602.22846406
12Nucleotide excision repair_Homo sapiens_hsa034202.03363715
13Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.87842922
14Cysteine and methionine metabolism_Homo sapiens_hsa002701.79129001
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.78415744
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.75856143
17Pyruvate metabolism_Homo sapiens_hsa006201.67555536
18mRNA surveillance pathway_Homo sapiens_hsa030151.67179597
19RNA polymerase_Homo sapiens_hsa030201.67138160
20Propanoate metabolism_Homo sapiens_hsa006401.64681491
21Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.63231750
22Spliceosome_Homo sapiens_hsa030401.58459142
23Maturity onset diabetes of the young_Homo sapiens_hsa049501.56821642
24Base excision repair_Homo sapiens_hsa034101.53901489
25Ribosome_Homo sapiens_hsa030101.49797940
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45768366
27Non-homologous end-joining_Homo sapiens_hsa034501.42228106
28Selenocompound metabolism_Homo sapiens_hsa004501.40911379
29RNA degradation_Homo sapiens_hsa030181.38172441
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.37582709
31Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.26707812
32Nicotine addiction_Homo sapiens_hsa050331.24349790
33Arginine biosynthesis_Homo sapiens_hsa002201.23298946
34Steroid biosynthesis_Homo sapiens_hsa001001.22836585
35Butanoate metabolism_Homo sapiens_hsa006501.22405233
36Carbon metabolism_Homo sapiens_hsa012001.12315021
37Purine metabolism_Homo sapiens_hsa002301.12283605
38Protein export_Homo sapiens_hsa030601.12109774
39Biosynthesis of amino acids_Homo sapiens_hsa012301.11736057
40Oocyte meiosis_Homo sapiens_hsa041141.11614972
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.04857781
42Proteasome_Homo sapiens_hsa030501.04038852
43Pyrimidine metabolism_Homo sapiens_hsa002401.03969991
44Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.94024853
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.93989160
46Olfactory transduction_Homo sapiens_hsa047400.93045876
47Oxidative phosphorylation_Homo sapiens_hsa001900.92828013
48Folate biosynthesis_Homo sapiens_hsa007900.91982905
49N-Glycan biosynthesis_Homo sapiens_hsa005100.88059225
50Fatty acid metabolism_Homo sapiens_hsa012120.86031215
51Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84385291
52Parkinsons disease_Homo sapiens_hsa050120.84223589
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.82720446
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82365559
55Glutathione metabolism_Homo sapiens_hsa004800.79060406
56Huntingtons disease_Homo sapiens_hsa050160.78395830
57Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76653189
58Phototransduction_Homo sapiens_hsa047440.75329423
59Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.68153792
60Fatty acid elongation_Homo sapiens_hsa000620.68021384
61Dorso-ventral axis formation_Homo sapiens_hsa043200.65919083
62Metabolic pathways_Homo sapiens_hsa011000.65300902
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.64361673
64Retinol metabolism_Homo sapiens_hsa008300.63856272
65Fructose and mannose metabolism_Homo sapiens_hsa000510.61266681
66Type II diabetes mellitus_Homo sapiens_hsa049300.60250974
67Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.60157549
68Arginine and proline metabolism_Homo sapiens_hsa003300.60113460
69Sulfur metabolism_Homo sapiens_hsa009200.58706499
70Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.57441023
71SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56873425
72Sphingolipid metabolism_Homo sapiens_hsa006000.56607888
73Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56344522
74Sulfur relay system_Homo sapiens_hsa041220.55949241
75Drug metabolism - other enzymes_Homo sapiens_hsa009830.55331680
76Nitrogen metabolism_Homo sapiens_hsa009100.53341278
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.51999532
782-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.49625338
79Regulation of autophagy_Homo sapiens_hsa041400.47748786
80Fatty acid biosynthesis_Homo sapiens_hsa000610.45075323
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43913556
82Lysine degradation_Homo sapiens_hsa003100.42324966
83ABC transporters_Homo sapiens_hsa020100.40059610
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.39707796
85p53 signaling pathway_Homo sapiens_hsa041150.39338860
86mTOR signaling pathway_Homo sapiens_hsa041500.37971947
87Taste transduction_Homo sapiens_hsa047420.35463504
88Peroxisome_Homo sapiens_hsa041460.33942381
89Tyrosine metabolism_Homo sapiens_hsa003500.33644744
90Thyroid cancer_Homo sapiens_hsa052160.33285814
91Pentose phosphate pathway_Homo sapiens_hsa000300.32818528
92GABAergic synapse_Homo sapiens_hsa047270.32742432
93Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.32450211
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.30341583
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.28432445
96Alzheimers disease_Homo sapiens_hsa050100.28135248
97Phenylalanine metabolism_Homo sapiens_hsa003600.27697729
98Acute myeloid leukemia_Homo sapiens_hsa052210.27345626
99Tryptophan metabolism_Homo sapiens_hsa003800.26080397
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24892238

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