SSX1

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 SSX2 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. A related pseudogene has been identified on chromosome X. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)6.77915532
2nuclear pore organization (GO:0006999)6.08887297
3DNA replication checkpoint (GO:0000076)5.69539015
4pore complex assembly (GO:0046931)5.29367453
5diterpenoid biosynthetic process (GO:0016102)5.23365066
6regulation of translational fidelity (GO:0006450)5.04475206
7homocysteine metabolic process (GO:0050667)4.91920672
8protoporphyrinogen IX metabolic process (GO:0046501)4.81746810
9terpenoid biosynthetic process (GO:0016114)4.76148735
10regulation of histone H3-K4 methylation (GO:0051569)4.73593334
11resolution of meiotic recombination intermediates (GO:0000712)4.66804264
12folic acid-containing compound biosynthetic process (GO:0009396)4.61269210
13synapsis (GO:0007129)4.57104068
14DNA topological change (GO:0006265)4.55026231
15mitotic sister chromatid segregation (GO:0000070)4.38732899
16sister chromatid segregation (GO:0000819)4.37023959
17DNA replication initiation (GO:0006270)4.30121277
18gas transport (GO:0015669)4.27670203
19mitotic nuclear envelope disassembly (GO:0007077)4.25563054
20protoporphyrinogen IX biosynthetic process (GO:0006782)4.23476351
21vitamin A metabolic process (GO:0006776)4.21169858
22DNA unwinding involved in DNA replication (GO:0006268)4.19962732
23intra-S DNA damage checkpoint (GO:0031573)4.13692135
24tRNA aminoacylation for protein translation (GO:0006418)4.12897701
25meiotic chromosome segregation (GO:0045132)4.03766189
26purine nucleobase biosynthetic process (GO:0009113)4.02828409
27oxygen transport (GO:0015671)4.02730696
28regulation of histone H3-K27 methylation (GO:0061085)4.02571913
29amino acid activation (GO:0043038)4.00588554
30tRNA aminoacylation (GO:0043039)4.00588554
31tetrahydrofolate metabolic process (GO:0046653)3.93186458
32regulation of RNA export from nucleus (GO:0046831)3.91359940
33oxidative phosphorylation (GO:0006119)3.88989278
34nuclear envelope disassembly (GO:0051081)3.86188964
35membrane disassembly (GO:0030397)3.86188964
36DNA strand elongation involved in DNA replication (GO:0006271)3.77907205
37IMP biosynthetic process (GO:0006188)3.75154488
38formation of translation preinitiation complex (GO:0001731)3.73212220
39DNA strand elongation (GO:0022616)3.65464316
40DNA methylation involved in gamete generation (GO:0043046)3.64732290
41cysteine metabolic process (GO:0006534)3.64426459
42definitive hemopoiesis (GO:0060216)3.62779921
43nucleobase biosynthetic process (GO:0046112)3.62280408
44sensory perception of smell (GO:0007608)3.61876828
45microtubule depolymerization (GO:0007019)3.52058784
46detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.51809149
47regulation of translational elongation (GO:0006448)3.41243431
48negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.37472371
49erythrocyte maturation (GO:0043249)3.36130685
50telomere maintenance via semi-conservative replication (GO:0032201)3.33144022
51protein-cofactor linkage (GO:0018065)3.32602038
52response to vitamin A (GO:0033189)3.29002924
53isoprenoid biosynthetic process (GO:0008299)3.27234401
54regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.26065938
55regulation of histone methylation (GO:0031060)3.21703548
56IMP metabolic process (GO:0046040)3.19962975
57regulation of mitotic spindle organization (GO:0060236)3.16667154
58positive regulation of histone H3-K4 methylation (GO:0051571)3.14326238
59chromosome segregation (GO:0007059)3.12152261
60somatic diversification of immune receptors via somatic mutation (GO:0002566)3.12077027
61somatic hypermutation of immunoglobulin genes (GO:0016446)3.12077027
62pteridine-containing compound biosynthetic process (GO:0042559)3.10338929
63oxaloacetate metabolic process (GO:0006107)3.09224842
64mitotic recombination (GO:0006312)3.08608531
65ribosome biogenesis (GO:0042254)3.06090217
66succinate metabolic process (GO:0006105)3.05527547
67proline biosynthetic process (GO:0006561)3.05255215
68proteasome assembly (GO:0043248)3.05188820
69regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.02660617
70telomere maintenance via recombination (GO:0000722)2.99353805
71DNA synthesis involved in DNA repair (GO:0000731)2.99220541
72creatine metabolic process (GO:0006600)2.97384469
73regulation of nucleobase-containing compound transport (GO:0032239)2.96272062
74folic acid-containing compound metabolic process (GO:0006760)2.95474494
75granulocyte differentiation (GO:0030851)2.86605220
76negative regulation of histone methylation (GO:0031061)2.86014915
77regulation of retinoic acid receptor signaling pathway (GO:0048385)2.85800499
78sulfur amino acid biosynthetic process (GO:0000097)2.85523378
79erythrocyte development (GO:0048821)2.84693969
80regulation of gene expression by genetic imprinting (GO:0006349)2.83834403
81viral mRNA export from host cell nucleus (GO:0046784)2.82871981
82protein localization to kinetochore (GO:0034501)2.82475811
83valine metabolic process (GO:0006573)2.80590348
84kinetochore organization (GO:0051383)2.79765144
85mismatch repair (GO:0006298)2.77959872
86replication fork processing (GO:0031297)2.77764103
87mitotic chromosome condensation (GO:0007076)2.77174721
88positive regulation of histone methylation (GO:0031062)2.74420160
89positive regulation of megakaryocyte differentiation (GO:0045654)2.73745561
90centriole replication (GO:0007099)2.72308522
91protein export from nucleus (GO:0006611)2.71132938
92potassium ion export (GO:0071435)2.68863334
93chromosome organization involved in meiosis (GO:0070192)2.68496032
94negative regulation of erythrocyte differentiation (GO:0045647)2.68429878
95DNA catabolic process, exonucleolytic (GO:0000738)2.67285680
96ribosome assembly (GO:0042255)2.66460023
97regulation of histone H3-K9 methylation (GO:0051570)2.65391269
98aspartate family amino acid biosynthetic process (GO:0009067)2.65239863
99phosphorelay signal transduction system (GO:0000160)2.63957740
100mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.62255477

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.03623679
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.82354189
3E2F4_17652178_ChIP-ChIP_JURKAT_Human3.75041376
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.44666711
5EST1_17652178_ChIP-ChIP_JURKAT_Human2.98866643
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.98438977
7MYC_18555785_ChIP-Seq_MESCs_Mouse2.97374021
8GABP_17652178_ChIP-ChIP_JURKAT_Human2.79879209
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.76309431
10FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.74191872
11NCOR1_26117541_ChIP-Seq_K562_Human2.73337581
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.71164943
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.63804418
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.63058018
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.63019916
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.62423917
17GATA1_19941826_ChIP-Seq_K562_Human2.49891358
18GATA1_22025678_ChIP-Seq_K562_Human2.31654183
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.25369068
20ELK1_19687146_ChIP-ChIP_HELA_Human2.23237794
21MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.20999353
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.18014091
23XRN2_22483619_ChIP-Seq_HELA_Human2.17251225
24KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.09825942
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.09577418
26PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.04999651
27MYC_19030024_ChIP-ChIP_MESCs_Mouse2.04106736
28E2F1_21310950_ChIP-Seq_MCF-7_Human2.03924523
29SALL1_21062744_ChIP-ChIP_HESCs_Human2.01939319
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.00429577
31DCP1A_22483619_ChIP-Seq_HELA_Human1.96646975
32FOXP3_21729870_ChIP-Seq_TREG_Human1.96334087
33VDR_23849224_ChIP-Seq_CD4+_Human1.93343001
34VDR_22108803_ChIP-Seq_LS180_Human1.93283980
35TTF2_22483619_ChIP-Seq_HELA_Human1.89197715
36ELF1_17652178_ChIP-ChIP_JURKAT_Human1.88889313
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.86148303
38GATA2_19941826_ChIP-Seq_K562_Human1.85321772
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.85294457
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.84512162
41KDM5A_27292631_Chip-Seq_BREAST_Human1.83347411
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.77180286
43RBPJ_22232070_ChIP-Seq_NCS_Mouse1.75012123
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73928051
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69267936
46NELFA_20434984_ChIP-Seq_ESCs_Mouse1.67823889
47POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.63344040
48GABP_19822575_ChIP-Seq_HepG2_Human1.62865702
49MYCN_18555785_ChIP-Seq_MESCs_Mouse1.61642958
50FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.55625811
51PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.50761750
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.44778732
53SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.42218144
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.39474510
55PADI4_21655091_ChIP-ChIP_MCF-7_Human1.34504325
56CIITA_25753668_ChIP-Seq_RAJI_Human1.31089485
57AR_21909140_ChIP-Seq_LNCAP_Human1.30034568
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.29114618
59SPI1_23127762_ChIP-Seq_K562_Human1.25055647
60GATA6_21074721_ChIP-Seq_CACO-2_Human1.23880574
61SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.23371566
62NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.22788478
63PHF8_20622853_ChIP-Seq_HELA_Human1.21951586
64GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.18431281
65ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.16966287
66BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.16632729
67CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.15090252
68* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.13147458
69CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.11581630
70ZFX_18555785_ChIP-Seq_MESCs_Mouse1.10353720
71CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.09535653
72TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.08754675
73RBPJ_21746931_ChIP-Seq_IB4_Human1.07596655
74STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02994195
75FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.02259416
76SCL_19346495_ChIP-Seq_HPC-7_Human1.00766404
77CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.99641392
78MYC_18940864_ChIP-ChIP_HL60_Human0.99419364
79ETV1_20927104_ChIP-Seq_GIST48_Human0.99082920
80NANOG_18555785_ChIP-Seq_MESCs_Mouse0.98461785
81ERG_20887958_ChIP-Seq_HPC-7_Mouse0.98147583
82HNFA_21074721_ChIP-Seq_CACO-2_Human0.97005919
83HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.96843994
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95748639
85YY1_21170310_ChIP-Seq_MESCs_Mouse0.95635627
86CBX2_22325352_ChIP-Seq_293T-Rex_Human0.95116960
87NFYB_21822215_ChIP-Seq_K562_Human0.93123541
88ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.91152530
89PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.90632996
90TFEB_21752829_ChIP-Seq_HELA_Human0.89945730
91GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.89466544
92PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.88742108
93E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.87459438
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.84107988
95ZNF274_21170338_ChIP-Seq_K562_Hela0.81975914
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.80145760
97ZNF263_19887448_ChIP-Seq_K562_Human0.77630440
98NFYA_21822215_ChIP-Seq_K562_Human0.77283842
99CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.76327586
100KLF4_18555785_ChIP-Seq_MESCs_Mouse0.74082127

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level5.20448730
2MP0008995_early_reproductive_senescence4.68182974
3MP0008058_abnormal_DNA_repair3.84961923
4MP0010094_abnormal_chromosome_stability3.48866032
5MP0009697_abnormal_copulation3.48220882
6MP0004957_abnormal_blastocyst_morpholog3.43577421
7MP0003111_abnormal_nucleus_morphology3.20873121
8MP0003693_abnormal_embryo_hatching3.02528778
9MP0000678_abnormal_parathyroid_gland3.02347114
10MP0008057_abnormal_DNA_replication2.84942215
11MP0003786_premature_aging2.70289074
12MP0003656_abnormal_erythrocyte_physiolo2.62322632
13MP0000372_irregular_coat_pigmentation2.60689182
14MP0008932_abnormal_embryonic_tissue2.41085354
15MP0004145_abnormal_muscle_electrophysio2.33341034
16MP0003806_abnormal_nucleotide_metabolis2.23826615
17MP0003718_maternal_effect2.22741283
18MP0005083_abnormal_biliary_tract2.15580472
19MP0003077_abnormal_cell_cycle2.07591328
20MP0008007_abnormal_cellular_replicative2.00973465
21MP0005397_hematopoietic_system_phenotyp1.97227035
22MP0001545_abnormal_hematopoietic_system1.97227035
23MP0002132_abnormal_respiratory_system1.91244867
24MP0005451_abnormal_body_composition1.78874245
25MP0006036_abnormal_mitochondrial_physio1.78171672
26MP0003186_abnormal_redox_activity1.72957597
27MP0006035_abnormal_mitochondrial_morpho1.58629753
28MP0005171_absent_coat_pigmentation1.53442873
29MP0002210_abnormal_sex_determination1.52414052
30MP0001929_abnormal_gametogenesis1.50406114
31MP0002396_abnormal_hematopoietic_system1.48686491
32MP0010307_abnormal_tumor_latency1.42120932
33MP0001661_extended_life_span1.38254156
34MP0001730_embryonic_growth_arrest1.38230890
35MP0001697_abnormal_embryo_size1.37263015
36MP0005636_abnormal_mineral_homeostasis1.36260433
37MP0008775_abnormal_heart_ventricle1.33873614
38MP0005408_hypopigmentation1.32068078
39MP0005646_abnormal_pituitary_gland1.29434092
40MP0005410_abnormal_fertilization1.26642820
41MP0002139_abnormal_hepatobiliary_system1.23268468
42MP0000313_abnormal_cell_death1.20709620
43MP0004233_abnormal_muscle_weight1.16695640
44MP0003698_abnormal_male_reproductive1.15392274
45MP0005380_embryogenesis_phenotype1.14612893
46MP0001672_abnormal_embryogenesis/_devel1.14612893
47MP0000350_abnormal_cell_proliferation1.11581215
48MP0002080_prenatal_lethality1.10583156
49MP0003959_abnormal_lean_body1.10298315
50MP0001764_abnormal_homeostasis1.09163058
51MP0002095_abnormal_skin_pigmentation1.08457695
52MP0000653_abnormal_sex_gland1.08202133
53MP0001145_abnormal_male_reproductive1.06866369
54MP0003984_embryonic_growth_retardation1.05102580
55MP0001529_abnormal_vocalization1.03631150
56MP0009278_abnormal_bone_marrow1.03487747
57MP0003950_abnormal_plasma_membrane1.02575337
58MP0001873_stomach_inflammation1.02563353
59MP0002088_abnormal_embryonic_growth/wei1.02189088
60MP0005332_abnormal_amino_acid0.98002464
61MP0000647_abnormal_sebaceous_gland0.97697408
62MP0003646_muscle_fatigue0.95533377
63MP0005645_abnormal_hypothalamus_physiol0.95246535
64MP0008877_abnormal_DNA_methylation0.93905902
65MP0002086_abnormal_extraembryonic_tissu0.93769023
66MP0003890_abnormal_embryonic-extraembry0.92041872
67MP0004043_abnormal_pH_regulation0.90267793
68MP0002269_muscular_atrophy0.85398005
69MP0000358_abnormal_cell_content/0.84506190
70MP0003699_abnormal_female_reproductive0.83736303
71MP0002019_abnormal_tumor_incidence0.83625699
72MP0004084_abnormal_cardiac_muscle0.83585216
73MP0000703_abnormal_thymus_morphology0.82716216
74MP0002161_abnormal_fertility/fecundity0.81431308
75MP0000609_abnormal_liver_physiology0.79918785
76MP0003385_abnormal_body_wall0.79721870
77MP0001502_abnormal_circadian_rhythm0.79491465
78MP0002084_abnormal_developmental_patter0.77987364
79MP0000631_abnormal_neuroendocrine_gland0.76691371
80MP0004808_abnormal_hematopoietic_stem0.76542376
81MP0006292_abnormal_olfactory_placode0.76126350
82MP0004134_abnormal_chest_morphology0.74375450
83MP0002085_abnormal_embryonic_tissue0.73722173
84MP0003567_abnormal_fetal_cardiomyocyte0.73225401
85MP0008770_decreased_survivor_rate0.72304540
86MP0003937_abnormal_limbs/digits/tail_de0.68692702
87MP0001881_abnormal_mammary_gland0.68133830
88MP0002249_abnormal_larynx_morphology0.67584035
89MP0009333_abnormal_splenocyte_physiolog0.67303815
90MP0008872_abnormal_physiological_respon0.66158540
91MP0001727_abnormal_embryo_implantation0.65591967
92MP0005187_abnormal_penis_morphology0.65538588
93MP0004019_abnormal_vitamin_homeostasis0.65213223
94MP0002722_abnormal_immune_system0.63920293
95MP0003221_abnormal_cardiomyocyte_apopto0.63614357
96MP0001119_abnormal_female_reproductive0.62906526
97MP0002638_abnormal_pupillary_reflex0.62612820
98MP0002938_white_spotting0.61465222
99MP0000681_abnormal_thyroid_gland0.61355818
100MP0005253_abnormal_eye_physiology0.60370705

Predicted human phenotypes

RankGene SetZ-score
1Abnormal gallbladder physiology (HP:0012438)7.69010563
2Cholecystitis (HP:0001082)7.69010563
3Truncus arteriosus (HP:0001660)5.94839616
4Reticulocytosis (HP:0001923)5.04256023
5Hyperthyroidism (HP:0000836)5.01663637
6Birth length less than 3rd percentile (HP:0003561)4.54648172
7Polycythemia (HP:0001901)4.27778101
8Ileus (HP:0002595)4.16462524
9Abnormality of reticulocytes (HP:0004312)4.13527259
10Abnormality of homocysteine metabolism (HP:0010919)4.09072943
11Homocystinuria (HP:0002156)4.09072943
12Abnormality of the heme biosynthetic pathway (HP:0010472)4.06440279
13Hypertensive crisis (HP:0100735)3.87845722
14Chromsome breakage (HP:0040012)3.83410166
15Bowel incontinence (HP:0002607)3.78413357
16Abnormality of glycolysis (HP:0004366)3.75639826
17Ankyloglossia (HP:0010296)3.64852276
18Abnormal large intestine physiology (HP:0012700)3.64311266
19Cholelithiasis (HP:0001081)3.59757206
20Increased serum pyruvate (HP:0003542)3.56492424
21Chromosomal breakage induced by crosslinking agents (HP:0003221)3.54889888
22Cortical dysplasia (HP:0002539)3.50448561
23Abnormal hemoglobin (HP:0011902)3.48614163
24Upper limb muscle weakness (HP:0003484)3.35492476
25Abnormal gallbladder morphology (HP:0012437)3.26406217
26Seborrheic dermatitis (HP:0001051)3.23116680
27Poikilocytosis (HP:0004447)3.15853604
28Hypoparathyroidism (HP:0000829)3.03947849
29Acute myeloid leukemia (HP:0004808)3.03471030
30Abnormality of cochlea (HP:0000375)3.01948648
31Nonimmune hydrops fetalis (HP:0001790)2.87952438
32Abnormality of the tricuspid valve (HP:0001702)2.87548621
33Hyperbilirubinemia (HP:0002904)2.77121448
34Abnormality of sulfur amino acid metabolism (HP:0004339)2.72126233
35Atelectasis (HP:0100750)2.61143155
36Abnormality of the gallbladder (HP:0005264)2.60752551
37Aplasia/Hypoplasia of the earlobes (HP:0009906)2.53692762
38Pallor (HP:0000980)2.53394280
39Abnormality of oral frenula (HP:0000190)2.40230976
40Tinnitus (HP:0000360)2.33994564
41Duplicated collecting system (HP:0000081)2.33708027
42Myelodysplasia (HP:0002863)2.29354044
43Morphological abnormality of the inner ear (HP:0011390)2.28567410
44Acanthocytosis (HP:0001927)2.23614639
45Reticulocytopenia (HP:0001896)2.21988758
46Flat cornea (HP:0007720)2.15557894
47Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.13382263
48Abnormality of alanine metabolism (HP:0010916)2.13382263
49Hyperalaninemia (HP:0003348)2.13382263
50Abnormality of the renal collecting system (HP:0004742)2.11883847
51Abnormally folded helix (HP:0008544)2.10336847
52Duodenal stenosis (HP:0100867)2.06998325
53Small intestinal stenosis (HP:0012848)2.06998325
54Acute encephalopathy (HP:0006846)2.02547560
55Aplasia/Hypoplasia of the thymus (HP:0010515)2.01260135
56Aplasia/Hypoplasia of the uvula (HP:0010293)2.01133781
57Overlapping toe (HP:0001845)1.99273369
58Abnormality of the labia minora (HP:0012880)1.94185319
59Peripheral hypomyelination (HP:0007182)1.94165276
60Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.92608350
61Orthostatic hypotension (HP:0001278)1.92192220
62Sandal gap (HP:0001852)1.88849248
63Abnormal mitochondria in muscle tissue (HP:0008316)1.88218051
64Increased nuchal translucency (HP:0010880)1.88074640
65Abnormality of the preputium (HP:0100587)1.87845810
66Abnormality of chromosome stability (HP:0003220)1.87104030
67Abnormal lung lobation (HP:0002101)1.83285138
68Limb hypertonia (HP:0002509)1.82874258
69Short middle phalanx of the 5th finger (HP:0004220)1.82121950
70Acute necrotizing encephalopathy (HP:0006965)1.81599133
71Cheekbone underdevelopment (HP:0010669)1.80811113
72Abnormality of the pons (HP:0007361)1.77511449
73Abnormality of DNA repair (HP:0003254)1.76410904
74Breech presentation (HP:0001623)1.75560281
75Increased serum lactate (HP:0002151)1.74864904
76Cortical visual impairment (HP:0100704)1.74716198
77Palpitations (HP:0001962)1.72104411
78Hypoplasia of the pons (HP:0012110)1.67178280
79Pancreatic islet-cell hyperplasia (HP:0004510)1.65178074
80Abnormal number of erythroid precursors (HP:0012131)1.64654844
81Overfolded helix (HP:0000396)1.64043051
82Submucous cleft hard palate (HP:0000176)1.61634937
83Small for gestational age (HP:0001518)1.61253883
84Venous insufficiency (HP:0005293)1.61025068
85Obsessive-compulsive behavior (HP:0000722)1.60908017
86Increased CSF lactate (HP:0002490)1.60466229
87Attention deficit hyperactivity disorder (HP:0007018)1.60038969
88Dysmetric saccades (HP:0000641)1.59592493
89Ventricular fibrillation (HP:0001663)1.59389083
90Abnormality of the carotid arteries (HP:0005344)1.57551110
91Angiofibromas (HP:0010615)1.56396843
92Adenoma sebaceum (HP:0009720)1.56396843
93Abnormality of the duodenum (HP:0002246)1.55184695
94Aplastic anemia (HP:0001915)1.54831401
95Abnormality of cells of the erythroid lineage (HP:0012130)1.54769376
96Abnormality of methionine metabolism (HP:0010901)1.54246111
97Neoplasm of head and neck (HP:0012288)1.53718155
98Esophageal neoplasm (HP:0100751)1.53718155
99Redundant skin (HP:0001582)1.53654780
100Arteriovenous malformation (HP:0100026)1.53639561

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK14.42893672
2RIPK44.26099835
3TTK3.66017835
4CLK13.43698359
5KSR23.22082224
6NTRK33.00292040
7BMPR22.88820765
8RAF12.62523531
9MAP3K22.37453174
10PLK42.27028419
11EEF2K2.24493513
12BRSK22.23168548
13CDC72.18305688
14NME12.08692410
15WEE12.08661132
16CCNB12.02851400
17BUB12.00405234
18EIF2AK31.84586030
19KSR11.84224923
20TSSK61.82702671
21NEK11.80771630
22MST41.75836269
23PBK1.72062909
24PDK21.65250648
25SRPK11.63562008
26MAP3K81.39216155
27MAP3K41.36527478
28CHEK21.36200625
29NEK21.24153767
30PLK31.23823776
31BMX1.20140137
32NUAK11.19095158
33WNK41.17822554
34TRPM71.16315800
35BRSK11.16262171
36ATR1.13555302
37RPS6KB21.12952154
38STK31.12880328
39AKT31.05821333
40TAOK31.04970996
41MAP2K11.01900851
42TEC1.01770521
43BRAF0.93633638
44JAK20.92349515
45TNIK0.88981445
46MAPKAPK50.88018276
47IRAK30.87551371
48ZAK0.86229414
49CHEK10.83482117
50ATM0.83455171
51PIK3CG0.81912968
52MARK30.80528011
53MKNK10.79037149
54PLK10.76550019
55CDK10.76480551
56STK40.73749856
57ICK0.69862374
58JAK30.68339910
59SCYL20.67518118
60PAK10.66622528
61CDK20.66084453
62PINK10.61071468
63ALK0.61031894
64FRK0.58081046
65PLK20.57833362
66CDK120.54896025
67STK100.53878563
68YES10.51128333
69CSNK2A20.49917414
70MKNK20.47900131
71WNK10.46397663
72ADRBK20.46354457
73RET0.45751189
74PIM10.45647764
75DYRK30.45540113
76EIF2AK20.42972462
77MAP3K60.42184404
78AURKB0.42051353
79CSNK1E0.40613363
80TXK0.39577131
81CSNK2A10.39375274
82MAPKAPK30.38304456
83PRKG20.35699899
84MAPK130.35470656
85MATK0.35304123
86RPS6KA50.34974219
87SGK10.33743819
88GSK3B0.32195744
89BCR0.31439342
90PRKAA10.31310857
91RPS6KA40.29021381
92PRKDC0.28412242
93MTOR0.28150517
94CDK70.27550419
95MAPK140.27451259
96IRAK10.25726978
97MAPK30.25187482
98NEK60.24850332
99MAP3K70.24790557
100BTK0.24166939

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009704.51271002
2One carbon pool by folate_Homo sapiens_hsa006704.12995725
3Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.32837845
4Mismatch repair_Homo sapiens_hsa034303.30317593
5Homologous recombination_Homo sapiens_hsa034403.21437959
6DNA replication_Homo sapiens_hsa030303.08220224
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.69549470
8RNA transport_Homo sapiens_hsa030132.43441448
9Fanconi anemia pathway_Homo sapiens_hsa034602.22744271
10Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.16071821
11Basal transcription factors_Homo sapiens_hsa030222.13362713
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.05851328
13Steroid biosynthesis_Homo sapiens_hsa001002.03332233
14Nucleotide excision repair_Homo sapiens_hsa034201.96597361
15Spliceosome_Homo sapiens_hsa030401.90461691
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.89692970
17Pyruvate metabolism_Homo sapiens_hsa006201.89186419
18RNA polymerase_Homo sapiens_hsa030201.79157876
19Cell cycle_Homo sapiens_hsa041101.76852100
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.75757753
21Biosynthesis of amino acids_Homo sapiens_hsa012301.71101093
22Olfactory transduction_Homo sapiens_hsa047401.70293795
23Proteasome_Homo sapiens_hsa030501.60741656
24Carbon metabolism_Homo sapiens_hsa012001.57751272
25Selenocompound metabolism_Homo sapiens_hsa004501.48471707
26RNA degradation_Homo sapiens_hsa030181.48358555
27Base excision repair_Homo sapiens_hsa034101.47213132
28mRNA surveillance pathway_Homo sapiens_hsa030151.44486384
29Propanoate metabolism_Homo sapiens_hsa006401.42488794
30Ribosome_Homo sapiens_hsa030101.36977996
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.35578569
32Butanoate metabolism_Homo sapiens_hsa006501.34268410
33Oxidative phosphorylation_Homo sapiens_hsa001901.31693265
34Protein export_Homo sapiens_hsa030601.26564636
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.22996363
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20780902
37Parkinsons disease_Homo sapiens_hsa050121.20152560
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18221896
39Non-homologous end-joining_Homo sapiens_hsa034501.15638592
40Arginine biosynthesis_Homo sapiens_hsa002201.11016740
41Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.03852656
42Fructose and mannose metabolism_Homo sapiens_hsa000510.99424564
43Pyrimidine metabolism_Homo sapiens_hsa002400.98959580
44Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.98726948
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.97775983
46Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96190843
47Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.96018368
48Purine metabolism_Homo sapiens_hsa002300.94797558
49SNARE interactions in vesicular transport_Homo sapiens_hsa041300.91937704
50Fatty acid metabolism_Homo sapiens_hsa012120.89835342
51Huntingtons disease_Homo sapiens_hsa050160.89613767
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89336520
53Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.80710724
54Pentose phosphate pathway_Homo sapiens_hsa000300.77758301
55Acute myeloid leukemia_Homo sapiens_hsa052210.77052858
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.76968621
57Type II diabetes mellitus_Homo sapiens_hsa049300.76336527
58Fatty acid elongation_Homo sapiens_hsa000620.75961508
59Cyanoamino acid metabolism_Homo sapiens_hsa004600.74537506
60Oocyte meiosis_Homo sapiens_hsa041140.69858270
61Nicotine addiction_Homo sapiens_hsa050330.67426147
62Metabolic pathways_Homo sapiens_hsa011000.62179431
63Nitrogen metabolism_Homo sapiens_hsa009100.58261973
64Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.57169714
65N-Glycan biosynthesis_Homo sapiens_hsa005100.55525889
66Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55268270
67Thyroid cancer_Homo sapiens_hsa052160.54649547
68Alzheimers disease_Homo sapiens_hsa050100.54468360
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49721232
70Vitamin B6 metabolism_Homo sapiens_hsa007500.48962962
71HIF-1 signaling pathway_Homo sapiens_hsa040660.48492138
72Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.48459094
73Retinol metabolism_Homo sapiens_hsa008300.46349773
74Glutathione metabolism_Homo sapiens_hsa004800.44977631
75mTOR signaling pathway_Homo sapiens_hsa041500.42651783
76Chronic myeloid leukemia_Homo sapiens_hsa052200.39259094
77Fatty acid biosynthesis_Homo sapiens_hsa000610.38250651
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37732276
79Arginine and proline metabolism_Homo sapiens_hsa003300.37725079
80Viral carcinogenesis_Homo sapiens_hsa052030.33158121
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32323565
82ErbB signaling pathway_Homo sapiens_hsa040120.31026275
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.27667788
84VEGF signaling pathway_Homo sapiens_hsa043700.26836712
85Other glycan degradation_Homo sapiens_hsa005110.25362342
86Epstein-Barr virus infection_Homo sapiens_hsa051690.22941159
87Lysine degradation_Homo sapiens_hsa003100.20467723
88Renal cell carcinoma_Homo sapiens_hsa052110.20140428
89Sulfur relay system_Homo sapiens_hsa041220.18581518
90Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.18029697
91Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.18009162
92Pancreatic cancer_Homo sapiens_hsa052120.17184192
93Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.15066559
94Central carbon metabolism in cancer_Homo sapiens_hsa052300.14942952
95Fat digestion and absorption_Homo sapiens_hsa049750.11176690
96Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.10645616
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.10317695
98ABC transporters_Homo sapiens_hsa020100.09425699
99Non-small cell lung cancer_Homo sapiens_hsa052230.09080947
100NOD-like receptor signaling pathway_Homo sapiens_hsa046210.08597166

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