SPANXC

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: Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)7.56254360
2establishment of viral latency (GO:0019043)6.50330742
3establishment of integrated proviral latency (GO:0075713)6.22020205
4fusion of sperm to egg plasma membrane (GO:0007342)5.93808637
5extracellular fibril organization (GO:0043206)5.45073629
6proteasome assembly (GO:0043248)5.00087208
7detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.75603862
8positive regulation of actin filament depolymerization (GO:0030836)4.70496814
9negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)4.48758486
10fibril organization (GO:0097435)4.42648830
11mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.40755145
12plasma membrane fusion (GO:0045026)4.38671725
13sequestering of actin monomers (GO:0042989)4.24824581
14ATP synthesis coupled proton transport (GO:0015986)4.06892295
15energy coupled proton transport, down electrochemical gradient (GO:0015985)4.06892295
16nuclear envelope reassembly (GO:0031468)3.97650629
17mitotic nuclear envelope reassembly (GO:0007084)3.97650629
18response to gravity (GO:0009629)3.92772419
19detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.92287327
20mesenchymal cell differentiation involved in renal system development (GO:2001012)3.91852999
21mesenchymal cell differentiation involved in kidney development (GO:0072161)3.91852999
22respiratory electron transport chain (GO:0022904)3.85187275
23negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.81834104
24pattern specification involved in kidney development (GO:0061004)3.76485542
25negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.75868011
26electron transport chain (GO:0022900)3.74926540
27mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.74620167
28regulation of metalloenzyme activity (GO:0048552)3.72303717
29DNA unwinding involved in DNA replication (GO:0006268)3.69136119
30positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.64491771
31antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.63618212
32actin filament depolymerization (GO:0030042)3.57034495
33regulation of cellular amino acid metabolic process (GO:0006521)3.52447913
34morphogenesis of an endothelium (GO:0003159)3.52364311
35endothelial tube morphogenesis (GO:0061154)3.52364311
36response to interferon-beta (GO:0035456)3.50874076
37muscle cell migration (GO:0014812)3.50363257
38chromosome condensation (GO:0030261)3.49821310
39negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.49722191
40negative regulation of ligase activity (GO:0051352)3.49722191
41DNA packaging (GO:0006323)3.46549093
42regulation of mitochondrial translation (GO:0070129)3.45178717
43regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.45125772
44antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.45088751
45DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.44559955
46telomere maintenance via semi-conservative replication (GO:0032201)3.41564226
47regulation of cilium movement (GO:0003352)3.39055214
48positive regulation of interleukin-8 secretion (GO:2000484)3.38779634
49deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.38409838
50intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.36082406
51signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.36082406
52protein retention in ER lumen (GO:0006621)3.34761324
53signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.30131066
54signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.30131066
55signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.30131066
56anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.30048923
57galactose catabolic process (GO:0019388)3.29851861
58type B pancreatic cell proliferation (GO:0044342)3.28286501
59protein complex biogenesis (GO:0070271)3.28280319
60acrosome reaction (GO:0007340)3.22468315
61signal transduction involved in DNA integrity checkpoint (GO:0072401)3.20240902
62signal transduction involved in DNA damage checkpoint (GO:0072422)3.20240902
63sperm motility (GO:0030317)3.19888257
64viral protein processing (GO:0019082)3.16658649
65gonadal mesoderm development (GO:0007506)3.14677334
66multicellular organism reproduction (GO:0032504)3.13897993
67ribosome assembly (GO:0042255)3.13033458
68positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.12950978
69signal transduction involved in cell cycle checkpoint (GO:0072395)3.12806137
70chaperone-mediated protein transport (GO:0072321)3.10610870
71membrane raft organization (GO:0031579)3.08862039
72positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.08188288
73antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.06498863
74negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.05928030
75cellular response to zinc ion (GO:0071294)3.05667527
76tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.05333633
77RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.05333633
78cellular copper ion homeostasis (GO:0006878)3.03988377
79rRNA modification (GO:0000154)2.99554493
80spermatid development (GO:0007286)2.99159116
81virion assembly (GO:0019068)2.98328960
82maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.95242317
83positive regulation of endothelial cell differentiation (GO:0045603)2.95239835
84mitochondrial respiratory chain complex assembly (GO:0033108)2.94316272
85ribosomal large subunit biogenesis (GO:0042273)2.90702155
86positive regulation of ligase activity (GO:0051351)2.90013003
87mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.87662807
88positive regulation of mitochondrial fission (GO:0090141)2.86136008
89cullin deneddylation (GO:0010388)2.83746945
90transcription-coupled nucleotide-excision repair (GO:0006283)2.83089096
91negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.78870150
92reproduction (GO:0000003)2.77693905
93negative regulation of glycoprotein metabolic process (GO:1903019)2.77495879
94regulation of gonadotropin secretion (GO:0032276)2.76911951
95glomerular visceral epithelial cell development (GO:0072015)2.76114391
96mesonephros development (GO:0001823)2.75402354
97NADH dehydrogenase complex assembly (GO:0010257)2.74992692
98mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.74992692
99mitochondrial respiratory chain complex I assembly (GO:0032981)2.74992692
100antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.73702032

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.89552159
2SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.92898869
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.69944627
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.02893191
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.00994791
6TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.98324765
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.81385682
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.72164584
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.63217251
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.55558081
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.54514578
12ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.49285344
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.47971100
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.41344847
15CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.36851795
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.36269202
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.33786704
18MYC_18555785_ChIP-Seq_MESCs_Mouse2.32936476
19CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.28916680
20DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.26229262
21HIF1A_21447827_ChIP-Seq_MCF-7_Human2.18081935
22E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10226459
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.08340059
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.05626276
25THAP11_20581084_ChIP-Seq_MESCs_Mouse1.99230776
26SRF_21415370_ChIP-Seq_HL-1_Mouse1.94673879
27PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.94293933
28ELF1_17652178_ChIP-ChIP_JURKAT_Human1.83516916
29DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.77305529
30MYC_19030024_ChIP-ChIP_MESCs_Mouse1.75921517
31MYC_19079543_ChIP-ChIP_MESCs_Mouse1.73146314
32DCP1A_22483619_ChIP-Seq_HELA_Human1.68088594
33CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.67228686
34ELK1_22589737_ChIP-Seq_MCF10A_Human1.65176824
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.63064479
36VDR_23849224_ChIP-Seq_CD4+_Human1.61018357
37BCL6_27268052_Chip-Seq_Bcells_Human1.59830968
38GABP_19822575_ChIP-Seq_HepG2_Human1.57766011
39JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55679223
40ELF1_20517297_ChIP-Seq_JURKAT_Human1.55104105
41EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.52861633
42ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.52160908
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51831198
44ELK1_19687146_ChIP-ChIP_HELA_Human1.50026751
45FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.48820252
46XRN2_22483619_ChIP-Seq_HELA_Human1.47687936
47KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.46362850
48JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43297916
49RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.40542422
50SRY_22984422_ChIP-ChIP_TESTIS_Rat1.37424081
51BCOR_27268052_Chip-Seq_Bcells_Human1.37067562
52HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.36431514
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.36364720
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.35900055
55TTF2_22483619_ChIP-Seq_HELA_Human1.35271131
56TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.35264145
57CSB_26484114_Chip-Seq_FIBROBLAST_Human1.35100877
58CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.32743469
59SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.31859687
60BP1_19119308_ChIP-ChIP_Hs578T_Human1.31820624
61NANOG_18555785_ChIP-Seq_MESCs_Mouse1.31760399
62ZNF263_19887448_ChIP-Seq_K562_Human1.31745390
63TET1_21451524_ChIP-Seq_MESCs_Mouse1.30327689
64NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.30064262
65ATF3_27146783_Chip-Seq_COLON_Human1.27874775
66FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.27215097
67CTCF_18555785_ChIP-Seq_MESCs_Mouse1.23617500
68BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.22460575
69FOXP3_21729870_ChIP-Seq_TREG_Human1.22277208
70CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.17906733
71CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.17492128
72TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16480551
73P300_27268052_Chip-Seq_Bcells_Human1.14996090
74POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.14915103
75FOXP1_21924763_ChIP-Seq_HESCs_Human1.14907772
76SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.14339428
77P68_20966046_ChIP-Seq_HELA_Human1.13305110
78HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.12689074
79TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.11813263
80CTCF_20526341_ChIP-Seq_ESCs_Human1.10970149
81STAT4_19710469_ChIP-ChIP_TH1__Mouse1.10735829
82TRIM28_21343339_ChIP-Seq_HEK293_Human1.10000537
83YY1_21170310_ChIP-Seq_MESCs_Mouse1.07691756
84E2F7_22180533_ChIP-Seq_HELA_Human1.06838480
85HOXB4_20404135_ChIP-ChIP_EML_Mouse1.05014755
86ERG_20517297_ChIP-Seq_VCAP_Human1.03608082
87PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.02633795
88LXR_22292898_ChIP-Seq_THP-1_Human1.02547865
89POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.00775834
90POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.00158341
91CBP_21632823_ChIP-Seq_H3396_Human1.00001524
92YY1_22570637_ChIP-Seq_MALME-3M_Human0.99865342
93FOXM1_23109430_ChIP-Seq_U2OS_Human0.99285433
94SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.97833233
95SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.97833233
96TFEB_21752829_ChIP-Seq_HELA_Human0.97314943
97E2F4_17652178_ChIP-ChIP_JURKAT_Human0.96586479
98RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.95350321
99E2F1_20622854_ChIP-Seq_HELA_Human0.93884134
100NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.92374452

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization5.04754317
2MP0005670_abnormal_white_adipose3.55947303
3MP0003123_paternal_imprinting3.50312141
4MP0000516_abnormal_urinary_system3.38598590
5MP0005367_renal/urinary_system_phenotyp3.38598590
6MP0004510_myositis3.36306488
7MP0003191_abnormal_cellular_cholesterol3.31743481
8MP0003806_abnormal_nucleotide_metabolis3.30228997
9MP0010030_abnormal_orbit_morphology2.90023356
10MP0000749_muscle_degeneration2.77918055
11MP0005257_abnormal_intraocular_pressure2.75701436
12MP0002837_dystrophic_cardiac_calcinosis2.65717995
13MP0000751_myopathy2.63519480
14MP0000750_abnormal_muscle_regeneration2.56566568
15MP0003950_abnormal_plasma_membrane2.46778526
16MP0005165_increased_susceptibility_to2.34621477
17MP0009697_abnormal_copulation2.33824830
18MP0002332_abnormal_exercise_endurance2.30468390
19MP0001542_abnormal_bone_strength2.19938235
20MP0002877_abnormal_melanocyte_morpholog2.04382508
21MP0001853_heart_inflammation2.03646067
22MP0003786_premature_aging2.01390715
23MP0008775_abnormal_heart_ventricle1.94193701
24MP0000343_altered_response_to1.91412310
25MP0003186_abnormal_redox_activity1.78016807
26MP0003075_altered_response_to1.77317857
27MP0003315_abnormal_perineum_morphology1.74795327
28MP0004272_abnormal_basement_membrane1.64411577
29MP0005360_urolithiasis1.58675847
30MP0006036_abnormal_mitochondrial_physio1.56786661
31MP0003718_maternal_effect1.53901241
32MP0008438_abnormal_cutaneous_collagen1.48683043
33MP0005330_cardiomyopathy1.47619428
34MP0002282_abnormal_trachea_morphology1.46374116
35MP0009764_decreased_sensitivity_to1.42176974
36MP0005058_abnormal_lysosome_morphology1.39175390
37MP0000534_abnormal_ureter_morphology1.37210622
38MP0003566_abnormal_cell_adhesion1.36966051
39MP0001929_abnormal_gametogenesis1.34117108
40MP0001905_abnormal_dopamine_level1.32445838
41MP0001299_abnormal_eye_distance/1.32384121
42MP0006054_spinal_hemorrhage1.27010218
43MP0003698_abnormal_male_reproductive1.22884841
44MP0002163_abnormal_gland_morphology1.22762246
45MP0002653_abnormal_ependyma_morphology1.22628256
46MP0000858_altered_metastatic_potential1.17650710
47MP0009053_abnormal_anal_canal1.17326343
48MP0005166_decreased_susceptibility_to1.16239017
49MP0002060_abnormal_skin_morphology1.15022880
50MP0003638_abnormal_response/metabolism_1.13200721
51MP0004957_abnormal_blastocyst_morpholog1.10679771
52MP0003077_abnormal_cell_cycle1.08455749
53MP0005408_hypopigmentation1.06786116
54MP0009840_abnormal_foam_cell1.05137135
55MP0003646_muscle_fatigue1.04894091
56MP0005584_abnormal_enzyme/coenzyme_acti1.03709909
57MP0008789_abnormal_olfactory_epithelium1.01082728
58MP0005266_abnormal_metabolism1.00938097
59MP0001346_abnormal_lacrimal_gland0.97138009
60MP0009379_abnormal_foot_pigmentation0.94190064
61MP0002972_abnormal_cardiac_muscle0.93004182
62MP0008007_abnormal_cellular_replicative0.92477325
63MP0003121_genomic_imprinting0.91652267
64MP0003279_aneurysm0.91460457
65MP0005379_endocrine/exocrine_gland_phen0.91362362
66MP0003329_amyloid_beta_deposits0.90211972
67MP0005464_abnormal_platelet_physiology0.88723896
68MP0000358_abnormal_cell_content/0.87851843
69MP0004147_increased_porphyrin_level0.87635224
70MP0001243_abnormal_dermal_layer0.87505666
71MP0002177_abnormal_outer_ear0.84240502
72MP0009333_abnormal_splenocyte_physiolog0.82907387
73MP0000249_abnormal_blood_vessel0.80515312
74MP0005197_abnormal_uvea_morphology0.78134988
75MP0002161_abnormal_fertility/fecundity0.75387289
76MP0002106_abnormal_muscle_physiology0.72930762
77MP0001727_abnormal_embryo_implantation0.72469808
78MP0003011_delayed_dark_adaptation0.71752289
79MP0002210_abnormal_sex_determination0.71641106
80MP0003436_decreased_susceptibility_to0.71518606
81MP0001879_abnormal_lymphatic_vessel0.71192228
82MP0010368_abnormal_lymphatic_system0.70181087
83MP0002019_abnormal_tumor_incidence0.69772405
84MP0000647_abnormal_sebaceous_gland0.68968647
85MP0001756_abnormal_urination0.66136383
86MP0005083_abnormal_biliary_tract0.65452813
87MP0000613_abnormal_salivary_gland0.64155948
88MP0000639_abnormal_adrenal_gland0.63806177
89MP0000372_irregular_coat_pigmentation0.63735544
90MP0000762_abnormal_tongue_morphology0.62040501
91MP0005164_abnormal_response_to0.60701206
92MP0005376_homeostasis/metabolism_phenot0.59970007
93MP0001340_abnormal_eyelid_morphology0.59421141
94MP0001835_abnormal_antigen_presentation0.58013425
95MP0005395_other_phenotype0.57685751
96MP0002006_tumorigenesis0.57257372
97MP0002132_abnormal_respiratory_system0.56314402
98MP0008469_abnormal_protein_level0.54248642
99MP0000313_abnormal_cell_death0.53371807
100MP0006035_abnormal_mitochondrial_morpho0.52750592

Predicted human phenotypes

RankGene SetZ-score
1Hepatocellular necrosis (HP:0001404)5.15599201
2Amyloidosis (HP:0011034)4.80996491
3Mitochondrial inheritance (HP:0001427)4.73997807
4Hepatic necrosis (HP:0002605)4.45856842
5Acute necrotizing encephalopathy (HP:0006965)4.43832782
6Abnormal mitochondria in muscle tissue (HP:0008316)4.15810428
7Glucose intolerance (HP:0000833)4.02297960
8Renal Fanconi syndrome (HP:0001994)3.88410227
9Increased CSF lactate (HP:0002490)3.87385557
10Delayed CNS myelination (HP:0002188)3.82114635
11Acute encephalopathy (HP:0006846)3.66614960
12Congenital, generalized hypertrichosis (HP:0004540)3.65741015
13Progressive macrocephaly (HP:0004481)3.58485009
14Reduced subcutaneous adipose tissue (HP:0003758)3.52619866
15Upper limb muscle weakness (HP:0003484)3.41043671
16Increased hepatocellular lipid droplets (HP:0006565)3.37937560
17Adrenal hypoplasia (HP:0000835)3.29765563
18Exertional dyspnea (HP:0002875)3.12999984
19Aplasia/Hypoplasia of the sacrum (HP:0008517)3.10159871
20Vertebral compression fractures (HP:0002953)3.08521088
21Distal lower limb muscle weakness (HP:0009053)3.08420950
22Microglossia (HP:0000171)3.07981139
23Severe visual impairment (HP:0001141)2.99037577
24Premature rupture of membranes (HP:0001788)2.91324658
25Osteolytic defects of the hand bones (HP:0009699)2.84211819
26Osteolytic defects of the phalanges of the hand (HP:0009771)2.84211819
27Male infertility (HP:0003251)2.82066484
28Axonal loss (HP:0003447)2.81773465
29Type I transferrin isoform profile (HP:0003642)2.79772100
30Abnormal spermatogenesis (HP:0008669)2.74772136
31Increased intramyocellular lipid droplets (HP:0012240)2.73182316
32Lipid accumulation in hepatocytes (HP:0006561)2.69669168
33Insulin resistance (HP:0000855)2.68233921
34Vascular calcification (HP:0004934)2.65466210
35Exercise intolerance (HP:0003546)2.62256560
36Entropion (HP:0000621)2.61347400
37Emotional lability (HP:0000712)2.58664331
38Respiratory failure (HP:0002878)2.54735544
39Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.53884318
40Decreased activity of mitochondrial respiratory chain (HP:0008972)2.53884318
41Flat capital femoral epiphysis (HP:0003370)2.53379180
42Short nail (HP:0001799)2.50176914
43Prolonged neonatal jaundice (HP:0006579)2.47547151
44Natal tooth (HP:0000695)2.45599463
45Cerebral edema (HP:0002181)2.43821124
46Abnormal glucose tolerance (HP:0001952)2.43122879
47Lactic acidosis (HP:0003128)2.41556746
48Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.40931035
49Hepatosplenomegaly (HP:0001433)2.39544735
50Spastic paraparesis (HP:0002313)2.34796043
51Increased serum lactate (HP:0002151)2.34744400
52Abnormality of placental membranes (HP:0011409)2.32830594
53Amniotic constriction ring (HP:0009775)2.32830594
54Cardiovascular calcification (HP:0011915)2.31847819
55Bifid uvula (HP:0000193)2.26956238
56Cholecystitis (HP:0001082)2.26438573
57Abnormal gallbladder physiology (HP:0012438)2.26438573
58Opisthotonus (HP:0002179)2.26393309
59Rough bone trabeculation (HP:0100670)2.25595723
60Increased serum pyruvate (HP:0003542)2.23580510
61Elevated erythrocyte sedimentation rate (HP:0003565)2.22363448
62Hand muscle atrophy (HP:0009130)2.22043542
63Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.20920058
64Abnormality of renal resorption (HP:0011038)2.20881861
65Increased muscle lipid content (HP:0009058)2.18397873
66Facial cleft (HP:0002006)2.16326648
67Hypertriglyceridemia (HP:0002155)2.14680707
68Abnormality of the anterior horn cell (HP:0006802)2.12730828
69Degeneration of anterior horn cells (HP:0002398)2.12730828
70CNS demyelination (HP:0007305)2.12576997
71Sparse eyelashes (HP:0000653)2.12521287
72Abnormality of glycolysis (HP:0004366)2.10558860
73Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.10042463
74Abnormal protein N-linked glycosylation (HP:0012347)2.10042463
75Abnormal protein glycosylation (HP:0012346)2.10042463
76Abnormal glycosylation (HP:0012345)2.10042463
77Sclerocornea (HP:0000647)2.08761537
78Atrophic scars (HP:0001075)2.06241162
79Orthostatic hypotension (HP:0001278)2.04839837
80Optic disc pallor (HP:0000543)2.04614796
81Difficulty climbing stairs (HP:0003551)2.03196021
82Vacuolated lymphocytes (HP:0001922)2.02331148
83Respiratory difficulties (HP:0002880)1.99148914
84Joint hemorrhage (HP:0005261)1.98899794
85Distal lower limb amyotrophy (HP:0008944)1.94125334
86Gliosis (HP:0002171)1.92325941
87Reduced antithrombin III activity (HP:0001976)1.92272337
88Acanthosis nigricans (HP:0000956)1.89397616
89Abnormal autonomic nervous system physiology (HP:0012332)1.88597220
90Muscle stiffness (HP:0003552)1.88510032
91Hypoalphalipoproteinemia (HP:0003233)1.87297418
92Abnormality of the distal phalanges of the toes (HP:0010182)1.86948519
93X-linked dominant inheritance (HP:0001423)1.86851394
94Leukodystrophy (HP:0002415)1.86162847
95Myocardial infarction (HP:0001658)1.84364860
96Retinal dysplasia (HP:0007973)1.84086529
97Down-sloping shoulders (HP:0200021)1.82413545
98Bradycardia (HP:0001662)1.82160231
99Generalized aminoaciduria (HP:0002909)1.81723505
100Abnormality of the sella turcica (HP:0002679)1.81305143

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK16.55369339
2VRK25.54463091
3TESK24.70248899
4NME24.64063883
5LIMK14.33820385
6ARAF3.38832647
7EPHA22.74563947
8MAP3K122.44667916
9PIM22.40706538
10LMTK22.01741781
11BUB11.99413715
12DAPK11.93092166
13MAP2K71.76566402
14SRPK11.62889679
15PAK41.61728675
16ABL21.57843594
17MST1R1.56615423
18PLK41.48591935
19IRAK31.45049601
20MAP4K21.43761169
21MOS1.41922464
22MYLK1.40205183
23CDK191.38618356
24VRK11.33204331
25NEK11.29313946
26PHKG11.26567357
27PHKG21.26567357
28KDR1.23195071
29BCKDK1.23154293
30TAOK21.16237427
31CSNK1G31.16140716
32STK161.13061760
33TAF11.09986371
34PTK2B1.08704301
35BRAF1.07641044
36ERN11.04923769
37ILK1.02575341
38CSNK1A1L1.01906706
39CDK81.01703560
40MAP3K110.96361498
41STK100.95531389
42DAPK30.91849495
43CCNB10.91092869
44ERBB40.89221938
45CSNK1G20.78254311
46AURKA0.73857015
47SCYL20.73389992
48CDK70.72920506
49CSNK1G10.72673732
50PAK10.70165427
51HIPK20.67852735
52MAPKAPK30.65978602
53PTK20.63967064
54EPHB20.62720150
55PDK20.61676159
56GRK50.58934233
57CDK11A0.54948380
58INSRR0.54420627
59CDK140.54391923
60MST40.53326498
61BRSK10.50072420
62TBK10.48696310
63BMX0.44404044
64AURKB0.44375680
65CDK150.43863596
66CDK180.42462420
67GRK70.41385266
68STK380.40425576
69DAPK20.40395201
70LRRK20.40225133
71ROCK10.39926392
72DDR20.39825265
73PLK10.38500868
74BMPR20.37277049
75MET0.35559858
76NUAK10.31187846
77RAF10.30748659
78PRKCI0.30526269
79CSNK2A20.30029456
80CAMK2G0.29411735
81MAP3K80.28005706
82ROCK20.27630163
83MAP3K30.25880366
84STK38L0.25072378
85TGFBR20.24723258
86TLK10.24423838
87RPS6KA50.23693660
88OXSR10.23680257
89PLK20.23265884
90CHEK20.22416317
91PLK30.20606270
92PBK0.19740614
93MAPKAPK20.19446403
94NEK20.18579132
95MAPK150.17981819
96CSNK2A10.16356942
97WEE10.13022967
98EIF2AK10.12885519
99CSNK1A10.12138426
100IKBKE0.12034895

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.15725369
2Oxidative phosphorylation_Homo sapiens_hsa001904.47203400
3Parkinsons disease_Homo sapiens_hsa050123.69131564
4DNA replication_Homo sapiens_hsa030303.60314111
5Ribosome_Homo sapiens_hsa030103.57945976
6Huntingtons disease_Homo sapiens_hsa050163.09879666
7Alzheimers disease_Homo sapiens_hsa050102.98145659
8Mismatch repair_Homo sapiens_hsa034302.82946037
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.46275748
10Base excision repair_Homo sapiens_hsa034102.45209688
11RNA polymerase_Homo sapiens_hsa030202.28784865
12Pyrimidine metabolism_Homo sapiens_hsa002402.18253792
13Nucleotide excision repair_Homo sapiens_hsa034202.11523254
14Homologous recombination_Homo sapiens_hsa034401.99182005
15Folate biosynthesis_Homo sapiens_hsa007901.98894695
16Cardiac muscle contraction_Homo sapiens_hsa042601.93744879
17Sulfur relay system_Homo sapiens_hsa041221.91728195
18Fatty acid elongation_Homo sapiens_hsa000621.81070354
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.56401651
20Salivary secretion_Homo sapiens_hsa049701.50642503
21Pentose phosphate pathway_Homo sapiens_hsa000301.50090052
22Glutathione metabolism_Homo sapiens_hsa004801.48349703
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.45173141
24Biosynthesis of amino acids_Homo sapiens_hsa012301.37739717
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.34656155
26Galactose metabolism_Homo sapiens_hsa000521.32986151
27SNARE interactions in vesicular transport_Homo sapiens_hsa041301.31734279
28Vibrio cholerae infection_Homo sapiens_hsa051101.31026529
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.30208618
30Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18208369
31Protein export_Homo sapiens_hsa030601.17264125
32Viral myocarditis_Homo sapiens_hsa054161.15306081
33Purine metabolism_Homo sapiens_hsa002301.08699572
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.03452259
35Carbon metabolism_Homo sapiens_hsa012001.03262179
36Spliceosome_Homo sapiens_hsa030401.02985687
37Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.02884159
38Pyruvate metabolism_Homo sapiens_hsa006200.99713054
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.99115727
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.98615488
41Fructose and mannose metabolism_Homo sapiens_hsa000510.95402298
42Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.95369061
43Drug metabolism - other enzymes_Homo sapiens_hsa009830.91262522
44N-Glycan biosynthesis_Homo sapiens_hsa005100.90207196
45RNA transport_Homo sapiens_hsa030130.80667031
46Antigen processing and presentation_Homo sapiens_hsa046120.79537054
47Glycosaminoglycan degradation_Homo sapiens_hsa005310.78035459
48Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.77513936
49Metabolic pathways_Homo sapiens_hsa011000.76401223
50Phenylalanine metabolism_Homo sapiens_hsa003600.72910102
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.72826947
52Tyrosine metabolism_Homo sapiens_hsa003500.71536671
53Sulfur metabolism_Homo sapiens_hsa009200.70962032
54Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.68289081
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.65901741
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65449496
57Other glycan degradation_Homo sapiens_hsa005110.63159496
58Synaptic vesicle cycle_Homo sapiens_hsa047210.60526423
59Allograft rejection_Homo sapiens_hsa053300.60278911
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58691207
61Bladder cancer_Homo sapiens_hsa052190.57552271
62Epstein-Barr virus infection_Homo sapiens_hsa051690.56945664
63Autoimmune thyroid disease_Homo sapiens_hsa053200.55439864
64p53 signaling pathway_Homo sapiens_hsa041150.53894343
65Endocytosis_Homo sapiens_hsa041440.53081083
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.51795539
67Basal transcription factors_Homo sapiens_hsa030220.47540304
68RNA degradation_Homo sapiens_hsa030180.44361988
69Collecting duct acid secretion_Homo sapiens_hsa049660.43841962
70Legionellosis_Homo sapiens_hsa051340.43763254
71Fatty acid biosynthesis_Homo sapiens_hsa000610.43185337
72Shigellosis_Homo sapiens_hsa051310.41779896
73Fanconi anemia pathway_Homo sapiens_hsa034600.40585882
74Cell cycle_Homo sapiens_hsa041100.39220685
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38377520
76Graft-versus-host disease_Homo sapiens_hsa053320.38226681
77RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.37973516
78Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.35795167
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33490197
80Apoptosis_Homo sapiens_hsa042100.32781263
81Arginine and proline metabolism_Homo sapiens_hsa003300.29291205
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.29207209
83Phagosome_Homo sapiens_hsa041450.27966384
84Mineral absorption_Homo sapiens_hsa049780.27684918
85Chemical carcinogenesis_Homo sapiens_hsa052040.27565829
86Non-homologous end-joining_Homo sapiens_hsa034500.26561492
87Salmonella infection_Homo sapiens_hsa051320.24786571
88Type I diabetes mellitus_Homo sapiens_hsa049400.22683971
89Peroxisome_Homo sapiens_hsa041460.21754562
90Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.21087017
91Herpes simplex infection_Homo sapiens_hsa051680.19834315
92Lysosome_Homo sapiens_hsa041420.18411791
93Steroid biosynthesis_Homo sapiens_hsa001000.18002672
94Arachidonic acid metabolism_Homo sapiens_hsa005900.17812831
95Asthma_Homo sapiens_hsa053100.15209559
96Rheumatoid arthritis_Homo sapiens_hsa053230.14511142
97Viral carcinogenesis_Homo sapiens_hsa052030.12561968
98Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.11533565
99HIF-1 signaling pathway_Homo sapiens_hsa040660.08694601
100Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.07930946

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