SPANXB1

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 of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)8.86015395
2establishment of viral latency (GO:0019043)7.10056206
3establishment of integrated proviral latency (GO:0075713)6.73067433
4extracellular fibril organization (GO:0043206)6.13563733
5fusion of sperm to egg plasma membrane (GO:0007342)5.69341707
6nuclear envelope reassembly (GO:0031468)5.32863308
7mitotic nuclear envelope reassembly (GO:0007084)5.32863308
8positive regulation of actin filament depolymerization (GO:0030836)5.22607720
9detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.17056972
10fibril organization (GO:0097435)5.07315355
11negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)5.03818035
12sequestering of actin monomers (GO:0042989)4.83973203
13negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.50526817
14response to gravity (GO:0009629)4.48596387
15proteasome assembly (GO:0043248)4.44594290
16detection of chemical stimulus involved in sensory perception of taste (GO:0050912)4.27087203
17mesenchymal cell differentiation involved in renal system development (GO:2001012)4.19829606
18mesenchymal cell differentiation involved in kidney development (GO:0072161)4.19829606
19plasma membrane fusion (GO:0045026)4.18199136
20response to interferon-beta (GO:0035456)4.08980530
21protein retention in ER lumen (GO:0006621)4.03185622
22endothelial tube morphogenesis (GO:0061154)3.98793455
23morphogenesis of an endothelium (GO:0003159)3.98793455
24pattern specification involved in kidney development (GO:0061004)3.94944576
25regulation of metalloenzyme activity (GO:0048552)3.90835614
26muscle cell migration (GO:0014812)3.85849925
27actin filament depolymerization (GO:0030042)3.85131453
28type B pancreatic cell proliferation (GO:0044342)3.83481445
29COPI coating of Golgi vesicle (GO:0048205)3.83348411
30Golgi transport vesicle coating (GO:0048200)3.83348411
31DNA unwinding involved in DNA replication (GO:0006268)3.81541305
32negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.70131969
33positive regulation of pseudopodium assembly (GO:0031274)3.61537086
34maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.60655388
35lipopolysaccharide biosynthetic process (GO:0009103)3.58227727
36deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.51383012
37negative regulation of glycoprotein metabolic process (GO:1903019)3.50633184
38galactose catabolic process (GO:0019388)3.48938168
39negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.46460653
40positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.46279045
41chromosome condensation (GO:0030261)3.46271111
42positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.45567811
43DNA packaging (GO:0006323)3.43586614
44regulation of cellular amino acid metabolic process (GO:0006521)3.39932611
45negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.37827345
46negative regulation of ligase activity (GO:0051352)3.32862971
47negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.32862971
48positive regulation of interleukin-8 secretion (GO:2000484)3.31766426
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.31139581
50ribosome assembly (GO:0042255)3.29859473
51cellular copper ion homeostasis (GO:0006878)3.26724184
52regulation of pseudopodium assembly (GO:0031272)3.22308558
53cortical actin cytoskeleton organization (GO:0030866)3.21964633
54DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.21904837
55anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.19615821
56barbed-end actin filament capping (GO:0051016)3.18231685
57antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.17215365
58signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.12719392
59intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.12719392
60mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.10332791
61glomerular visceral epithelial cell development (GO:0072015)3.09292360
62signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.04833259
63signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.04833259
64signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.04833259
65glycolytic process (GO:0006096)3.04325993
66positive regulation of protein complex disassembly (GO:0043243)3.03629858
67telomere maintenance via semi-conservative replication (GO:0032201)3.02937878
68positive regulation of endothelial cell differentiation (GO:0045603)3.02734521
69regulation of mitochondrial translation (GO:0070129)3.00871936
70signal transduction involved in DNA integrity checkpoint (GO:0072401)2.96325309
71signal transduction involved in DNA damage checkpoint (GO:0072422)2.96325309
72membrane raft organization (GO:0031579)2.93675072
73AMP metabolic process (GO:0046033)2.93028519
74antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.92280071
75positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.90475375
76lipopolysaccharide metabolic process (GO:0008653)2.89854394
77signal transduction involved in cell cycle checkpoint (GO:0072395)2.89387917
78cortical cytoskeleton organization (GO:0030865)2.89051452
79endothelial cell chemotaxis (GO:0035767)2.88935681
80mesonephros development (GO:0001823)2.87997263
81peptidyl-proline hydroxylation (GO:0019511)2.83553568
82sperm motility (GO:0030317)2.82824521
83heterochromatin organization (GO:0070828)2.82497037
84cellular response to zinc ion (GO:0071294)2.82269919
85embryonic skeletal joint morphogenesis (GO:0060272)2.81934858
86rRNA modification (GO:0000154)2.80667918
87galactose metabolic process (GO:0006012)2.79034037
88chaperone-mediated protein transport (GO:0072321)2.78370481
89xenobiotic catabolic process (GO:0042178)2.77296306
90negative regulation of mitochondrion organization (GO:0010823)2.76154797
91negative regulation of calcium ion transport into cytosol (GO:0010523)2.75735854
92fibrinolysis (GO:0042730)2.75667157
93cullin deneddylation (GO:0010388)2.75380327
94protein hydroxylation (GO:0018126)2.75187812
95multicellular organism reproduction (GO:0032504)2.74721416
96glomerular epithelial cell development (GO:0072310)2.74299518
97mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.73278007
98peptidyl-proline modification (GO:0018208)2.72762092
99regulation of cilium movement (GO:0003352)2.70112774
100transcription elongation from RNA polymerase III promoter (GO:0006385)2.69989805

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.80739077
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.56863808
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.43298894
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.30373537
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.04145159
6MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.83731564
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.82118644
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.80986951
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.78439178
10DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.48298511
11HIF1A_21447827_ChIP-Seq_MCF-7_Human2.46465950
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.46152300
13ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.42755398
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.41662575
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.34151129
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28740135
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.12076988
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.10933891
19CREB1_15753290_ChIP-ChIP_HEK293T_Human2.10535684
20THAP11_20581084_ChIP-Seq_MESCs_Mouse2.10155227
21CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.04567463
22E2F1_18555785_ChIP-Seq_MESCs_Mouse1.96189164
23DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.94573281
24EST1_17652178_ChIP-ChIP_JURKAT_Human1.91910195
25SRF_21415370_ChIP-Seq_HL-1_Mouse1.91650097
26ELF1_17652178_ChIP-ChIP_JURKAT_Human1.87311122
27MYC_18555785_ChIP-Seq_MESCs_Mouse1.86213446
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.82253608
29CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.82083458
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.79150079
31ELK3_25401928_ChIP-Seq_HUVEC_Human1.68320215
32GABP_19822575_ChIP-Seq_HepG2_Human1.65966738
33DCP1A_22483619_ChIP-Seq_HELA_Human1.64827208
34MYC_19030024_ChIP-ChIP_MESCs_Mouse1.63894935
35TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62342072
36KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.61216052
37NELFA_20434984_ChIP-Seq_ESCs_Mouse1.58926684
38JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57598829
39BCL6_27268052_Chip-Seq_Bcells_Human1.51040702
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.49895512
41SRY_22984422_ChIP-ChIP_TESTIS_Rat1.49801555
42XRN2_22483619_ChIP-Seq_HELA_Human1.49289047
43ELK1_22589737_ChIP-Seq_MCF10A_Human1.49117950
44NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.46825778
45TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45090450
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.44610956
47EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.42755839
48JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41884078
49MYC_19079543_ChIP-ChIP_MESCs_Mouse1.41703092
50ELF1_20517297_ChIP-Seq_JURKAT_Human1.41487497
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37640163
52FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.37440966
53ATF3_27146783_Chip-Seq_COLON_Human1.35220466
54BCOR_27268052_Chip-Seq_Bcells_Human1.35212500
55VDR_23849224_ChIP-Seq_CD4+_Human1.34949962
56RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.32571668
57TRIM28_21343339_ChIP-Seq_HEK293_Human1.30006985
58YY1_21170310_ChIP-Seq_MESCs_Mouse1.28708175
59CTCF_18555785_ChIP-Seq_MESCs_Mouse1.27566118
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.27463657
61TET1_21451524_ChIP-Seq_MESCs_Mouse1.26669398
62HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.24645920
63TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23864359
64CSB_26484114_Chip-Seq_FIBROBLAST_Human1.23049897
65FOXM1_23109430_ChIP-Seq_U2OS_Human1.22030994
66CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.21188182
67ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.19778550
68ZNF263_19887448_ChIP-Seq_K562_Human1.19385627
69FOXP1_21924763_ChIP-Seq_HESCs_Human1.17111095
70SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.16991036
71SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.16991036
72CBP_21632823_ChIP-Seq_H3396_Human1.14725919
73HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.13311660
74P68_20966046_ChIP-Seq_HELA_Human1.12607138
75TTF2_22483619_ChIP-Seq_HELA_Human1.12312858
76BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.12229412
77CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.12061645
78RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10553327
79ELK1_19687146_ChIP-ChIP_HELA_Human1.06368277
80LXR_22292898_ChIP-Seq_THP-1_Human1.05573888
81SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.05131468
82SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.04693565
83TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.04226027
84CTCF_20526341_ChIP-Seq_ESCs_Human1.03677971
85NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.02018738
86KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01426130
87CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.01165300
88SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.01126930
89P300_27268052_Chip-Seq_Bcells_Human1.00088504
90ZFX_18555785_ChIP-Seq_MESCs_Mouse0.99364064
91STAT4_19710469_ChIP-ChIP_TH1__Mouse0.98936723
92UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.98201987
93SOX17_20123909_ChIP-Seq_XEN_Mouse0.98078129
94TFEB_21752829_ChIP-Seq_HELA_Human0.97618474
95HOXB4_20404135_ChIP-ChIP_EML_Mouse0.96761503
96FOXP3_21729870_ChIP-Seq_TREG_Human0.96511100
97PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.96154320
98ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.95445401
99MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93899753
100HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.93750277

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004510_myositis4.46100410
2MP0003191_abnormal_cellular_cholesterol4.09612473
3MP0005410_abnormal_fertilization4.07881971
4MP0003123_paternal_imprinting3.43729286
5MP0000751_myopathy3.36503143
6MP0010030_abnormal_orbit_morphology3.34801742
7MP0005257_abnormal_intraocular_pressure3.02972655
8MP0000749_muscle_degeneration2.96659386
9MP0003950_abnormal_plasma_membrane2.90356811
10MP0000750_abnormal_muscle_regeneration2.71221161
11MP0002877_abnormal_melanocyte_morpholog2.68714327
12MP0005670_abnormal_white_adipose2.64275151
13MP0005165_increased_susceptibility_to2.58577711
14MP0002332_abnormal_exercise_endurance2.52768479
15MP0001542_abnormal_bone_strength2.44694024
16MP0004272_abnormal_basement_membrane2.37860289
17MP0005367_renal/urinary_system_phenotyp2.09141871
18MP0000516_abnormal_urinary_system2.09141871
19MP0003075_altered_response_to2.05902766
20MP0003566_abnormal_cell_adhesion2.00840304
21MP0005330_cardiomyopathy1.94697099
22MP0005058_abnormal_lysosome_morphology1.90620720
23MP0003315_abnormal_perineum_morphology1.87178855
24MP0000343_altered_response_to1.86712245
25MP0001853_heart_inflammation1.84459049
26MP0003786_premature_aging1.81687033
27MP0009840_abnormal_foam_cell1.79505683
28MP0003718_maternal_effect1.77011859
29MP0001299_abnormal_eye_distance/1.69914080
30MP0003329_amyloid_beta_deposits1.68007357
31MP0009697_abnormal_copulation1.63757615
32MP0008775_abnormal_heart_ventricle1.52217733
33MP0000858_altered_metastatic_potential1.50001967
34MP0002282_abnormal_trachea_morphology1.46172045
35MP0005360_urolithiasis1.42767140
36MP0006054_spinal_hemorrhage1.41550829
37MP0003186_abnormal_redox_activity1.40280337
38MP0002653_abnormal_ependyma_morphology1.39729289
39MP0005166_decreased_susceptibility_to1.30770234
40MP0003806_abnormal_nucleotide_metabolis1.28314641
41MP0009053_abnormal_anal_canal1.27580109
42MP0004957_abnormal_blastocyst_morpholog1.26086263
43MP0006036_abnormal_mitochondrial_physio1.22586428
44MP0010368_abnormal_lymphatic_system1.19527284
45MP0005451_abnormal_body_composition1.17624544
46MP0005464_abnormal_platelet_physiology1.16908510
47MP0003077_abnormal_cell_cycle1.16248068
48MP0008007_abnormal_cellular_replicative1.15820755
49MP0001243_abnormal_dermal_layer1.15239694
50MP0001905_abnormal_dopamine_level1.14100114
51MP0000358_abnormal_cell_content/1.13567257
52MP0005083_abnormal_biliary_tract1.12310650
53MP0001929_abnormal_gametogenesis1.11441738
54MP0002060_abnormal_skin_morphology1.11207887
55MP0000534_abnormal_ureter_morphology1.09554066
56MP0002837_dystrophic_cardiac_calcinosis1.08748847
57MP0002972_abnormal_cardiac_muscle1.07973321
58MP0003693_abnormal_embryo_hatching1.06637413
59MP0003436_decreased_susceptibility_to1.06517302
60MP0009780_abnormal_chondrocyte_physiolo1.04268485
61MP0003698_abnormal_male_reproductive1.02151949
62MP0008438_abnormal_cutaneous_collagen1.00223331
63MP0005197_abnormal_uvea_morphology0.99689266
64MP0005584_abnormal_enzyme/coenzyme_acti0.96914514
65MP0003279_aneurysm0.96622189
66MP0002177_abnormal_outer_ear0.93712812
67MP0003638_abnormal_response/metabolism_0.89041772
68MP0008932_abnormal_embryonic_tissue0.87708709
69MP0000647_abnormal_sebaceous_gland0.85375311
70MP0003656_abnormal_erythrocyte_physiolo0.83927930
71MP0001879_abnormal_lymphatic_vessel0.83346079
72MP0005395_other_phenotype0.81882684
73MP0002106_abnormal_muscle_physiology0.80979508
74MP0000762_abnormal_tongue_morphology0.80509198
75MP0006035_abnormal_mitochondrial_morpho0.78596843
76MP0004147_increased_porphyrin_level0.78579786
77MP0005164_abnormal_response_to0.77632443
78MP0001533_abnormal_skeleton_physiology0.76767828
79MP0001346_abnormal_lacrimal_gland0.72173321
80MP0000249_abnormal_blood_vessel0.71651628
81MP0009333_abnormal_splenocyte_physiolog0.70854489
82MP0000613_abnormal_salivary_gland0.70344711
83MP0008260_abnormal_autophagy0.70296518
84MP0000747_muscle_weakness0.69275177
85MP0002006_tumorigenesis0.69197633
86MP0002161_abnormal_fertility/fecundity0.68719246
87MP0005084_abnormal_gallbladder_morpholo0.67699004
88MP0000604_amyloidosis0.67132708
89MP0005501_abnormal_skin_physiology0.66274337
90MP0002210_abnormal_sex_determination0.65534309
91MP0003091_abnormal_cell_migration0.65003981
92MP0009278_abnormal_bone_marrow0.62291127
93MP0002132_abnormal_respiratory_system0.61087332
94MP0005408_hypopigmentation0.60435275
95MP0009764_decreased_sensitivity_to0.60259941
96MP0003942_abnormal_urinary_system0.59380468
97MP0001340_abnormal_eyelid_morphology0.59333305
98MP0002019_abnormal_tumor_incidence0.58080451
99MP0005266_abnormal_metabolism0.56782730
100MP0008469_abnormal_protein_level0.56410883

Predicted human phenotypes

RankGene SetZ-score
1Amyloidosis (HP:0011034)5.29592888
2Glucose intolerance (HP:0000833)4.87581718
3Upper limb muscle weakness (HP:0003484)4.37731091
4Reduced subcutaneous adipose tissue (HP:0003758)4.21350666
5Adrenal hypoplasia (HP:0000835)4.03599282
6Premature rupture of membranes (HP:0001788)3.70305039
7Hepatocellular necrosis (HP:0001404)3.69209353
8Osteolytic defects of the phalanges of the hand (HP:0009771)3.61319655
9Osteolytic defects of the hand bones (HP:0009699)3.61319655
10Distal lower limb muscle weakness (HP:0009053)3.53678599
11Vertebral compression fractures (HP:0002953)3.47116478
12Delayed CNS myelination (HP:0002188)3.34952281
13Short nail (HP:0001799)3.31482925
14Hepatic necrosis (HP:0002605)3.25656491
15Mitochondrial inheritance (HP:0001427)3.22042645
16Insulin resistance (HP:0000855)3.20248197
17Abnormal glucose tolerance (HP:0001952)3.17098524
18Microglossia (HP:0000171)3.05101658
19Vascular calcification (HP:0004934)3.04853739
20Abnormal spermatogenesis (HP:0008669)2.97824380
21Cholecystitis (HP:0001082)2.97514935
22Abnormal gallbladder physiology (HP:0012438)2.97514935
23Acute necrotizing encephalopathy (HP:0006965)2.95008111
24Entropion (HP:0000621)2.91505624
25Aplasia/Hypoplasia of the sacrum (HP:0008517)2.91123852
26Axonal loss (HP:0003447)2.90397323
27Abnormal mitochondria in muscle tissue (HP:0008316)2.89755380
28Renal Fanconi syndrome (HP:0001994)2.81333134
29Rough bone trabeculation (HP:0100670)2.78197202
30Increased serum pyruvate (HP:0003542)2.73968571
31Bifid uvula (HP:0000193)2.73934170
32Distal lower limb amyotrophy (HP:0008944)2.72725764
33Flat capital femoral epiphysis (HP:0003370)2.71473291
34Reduced antithrombin III activity (HP:0001976)2.69780105
35Hand muscle atrophy (HP:0009130)2.64458956
36Cardiovascular calcification (HP:0011915)2.63774707
37Abnormality of glycolysis (HP:0004366)2.61755168
38Prolonged neonatal jaundice (HP:0006579)2.54865281
39Opisthotonus (HP:0002179)2.52040848
40Increased CSF lactate (HP:0002490)2.51299286
41Type I transferrin isoform profile (HP:0003642)2.50902441
42Severe visual impairment (HP:0001141)2.49933278
43Atrophic scars (HP:0001075)2.44328478
44Hypoalphalipoproteinemia (HP:0003233)2.42358771
45Difficulty climbing stairs (HP:0003551)2.42115308
46Limb-girdle muscle atrophy (HP:0003797)2.41513818
47Acute encephalopathy (HP:0006846)2.36072001
48Male infertility (HP:0003251)2.35792093
49Abnormality of the musculature of the pelvis (HP:0001469)2.35374886
50Abnormality of the hip-girdle musculature (HP:0001445)2.35374886
51Shoulder girdle muscle weakness (HP:0003547)2.35182566
52Acanthosis nigricans (HP:0000956)2.34151168
53Exertional dyspnea (HP:0002875)2.34100217
54Exercise intolerance (HP:0003546)2.31056033
55Pelvic girdle muscle weakness (HP:0003749)2.29155275
56Joint hemorrhage (HP:0005261)2.28078107
57Bradycardia (HP:0001662)2.27228769
58Progressive macrocephaly (HP:0004481)2.26900547
59Increased connective tissue (HP:0009025)2.25170126
60Late onset (HP:0003584)2.24922804
61Abnormality of the distal phalanges of the toes (HP:0010182)2.24242968
62Down-sloping shoulders (HP:0200021)2.23997229
63Sparse eyelashes (HP:0000653)2.23931242
64Insulin-resistant diabetes mellitus (HP:0000831)2.19576768
65Myocardial infarction (HP:0001658)2.16781499
66Short clavicles (HP:0000894)2.16439313
67Hepatosplenomegaly (HP:0001433)2.16064436
68Emotional lability (HP:0000712)2.12727091
69Abnormal protein glycosylation (HP:0012346)2.11395411
70Abnormal glycosylation (HP:0012345)2.11395411
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.11395411
72Abnormal protein N-linked glycosylation (HP:0012347)2.11395411
73Increased hepatocellular lipid droplets (HP:0006565)2.10369054
74Achilles tendon contracture (HP:0001771)2.08588140
75Testicular atrophy (HP:0000029)2.07698369
76Upper limb amyotrophy (HP:0009129)2.06437115
77Distal upper limb amyotrophy (HP:0007149)2.06437115
78Abnormal autonomic nervous system physiology (HP:0012332)2.02637273
79Sclerocornea (HP:0000647)2.02561278
80Natal tooth (HP:0000695)2.01871332
81Elevated erythrocyte sedimentation rate (HP:0003565)2.01862762
82Secondary amenorrhea (HP:0000869)1.99680603
83Hypertriglyceridemia (HP:0002155)1.99563041
84Vacuolated lymphocytes (HP:0001922)1.99471391
85Increased serum lactate (HP:0002151)1.97671469
86Abnormality of the sella turcica (HP:0002679)1.97541210
87Fatigue (HP:0012378)1.96726072
88Myoglobinuria (HP:0002913)1.96168142
89Abnormal trabecular bone morphology (HP:0100671)1.94332222
90Flattened epiphyses (HP:0003071)1.92438379
91Severe muscular hypotonia (HP:0006829)1.89339044
92Spastic paraparesis (HP:0002313)1.88480635
93Multiple lipomas (HP:0001012)1.87567080
94Abnormal pupillary function (HP:0007686)1.87211005
95Rhabdomyolysis (HP:0003201)1.87172034
96Increased intramyocellular lipid droplets (HP:0012240)1.85863152
97Progressive neurologic deterioration (HP:0002344)1.85084100
98Tongue fasciculations (HP:0001308)1.84760934
99Lactic acidosis (HP:0003128)1.84312684
100Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83499783

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK16.44292762
2VRK25.75597581
3TESK25.28383127
4NME24.71559884
5LIMK14.31283250
6ARAF3.40404339
7EPHA23.10730228
8PIM22.42718727
9BUB12.34821884
10LMTK22.23112361
11MAP2K72.04568389
12DAPK11.79224725
13IRAK31.72173025
14BCKDK1.59239742
15MOS1.58344597
16MST1R1.46542377
17VRK11.45368955
18ABL21.44097173
19TAOK21.34710801
20PAK41.32764264
21STK161.32639796
22ERN11.32108902
23MAP3K121.30196567
24STK101.28326859
25BRAF1.17884912
26SRPK11.16223597
27PLK41.15962719
28KDR1.15265140
29CSNK1G31.11371065
30PHKG11.10670589
31PHKG21.10670589
32MAP3K111.10501467
33CCNB11.01378540
34CSNK1A1L1.00649255
35PTK2B0.96971068
36NEK10.94974448
37TAF10.94809922
38ERBB40.91861552
39MAPKAPK30.85038681
40AURKA0.83368322
41HIPK20.81164044
42CDK190.79586280
43EPHB20.76399029
44CSNK1G20.76278131
45ILK0.75093807
46CSNK1G10.71872160
47PAK10.70891482
48MAP4K20.70672274
49PTK20.69913718
50MST40.69747505
51CDK70.69553449
52TBK10.69139675
53BRSK10.67786841
54CDK80.65303376
55GRK50.64662395
56MYLK0.64239415
57DAPK30.61915615
58SCYL20.61315492
59DAPK20.54516861
60LRRK20.53375724
61GRK70.49960731
62RAF10.48252001
63CDK140.46948940
64TGFBR20.46188832
65PRKCI0.44591805
66BMX0.43290794
67CDK11A0.42567365
68CDC70.42219166
69NUAK10.41795201
70PLK10.41371707
71MAP3K30.40385821
72EPHB10.40042617
73STK380.39265984
74PDK20.37664778
75CDK150.36469602
76MET0.36003373
77CDK180.35763750
78PRPF4B0.34730531
79MAP3K80.34007689
80INSRR0.33898980
81AURKB0.31592212
82MAPKAPK20.28691255
83EIF2AK20.27300146
84CAMK2G0.26180383
85RPS6KA50.26002682
86PLK30.25760787
87SMG10.24670491
88ROCK20.24229903
89ICK0.23870483
90PLK20.22680471
91DDR20.22368274
92CSNK2A20.22177778
93GSK3A0.21621896
94ROCK10.19869415
95EIF2AK10.19575173
96MAP3K10.19332592
97IKBKE0.17907659
98NEK20.16613213
99CAMKK20.15750695
100PBK0.14167366

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.23753148
2DNA replication_Homo sapiens_hsa030303.61472645
3Oxidative phosphorylation_Homo sapiens_hsa001903.21471760
4Mismatch repair_Homo sapiens_hsa034302.78044620
5Folate biosynthesis_Homo sapiens_hsa007902.75736484
6Parkinsons disease_Homo sapiens_hsa050122.72165507
7Sulfur relay system_Homo sapiens_hsa041222.58062567
8Huntingtons disease_Homo sapiens_hsa050162.57235950
9RNA polymerase_Homo sapiens_hsa030202.55512285
10Base excision repair_Homo sapiens_hsa034102.47603168
11Pyrimidine metabolism_Homo sapiens_hsa002402.37714122
12Ribosome_Homo sapiens_hsa030102.31184712
13Alzheimers disease_Homo sapiens_hsa050102.23787233
14Nucleotide excision repair_Homo sapiens_hsa034202.12252685
15Fatty acid elongation_Homo sapiens_hsa000622.00649121
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.97667694
17Pentose phosphate pathway_Homo sapiens_hsa000301.97175431
18Glutathione metabolism_Homo sapiens_hsa004801.91808027
19Biosynthesis of amino acids_Homo sapiens_hsa012301.86306607
20Salivary secretion_Homo sapiens_hsa049701.82505535
21Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.78898619
22Galactose metabolism_Homo sapiens_hsa000521.76179475
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.74581768
24Homologous recombination_Homo sapiens_hsa034401.68066710
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.67125408
26Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.64356052
27Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.63630792
28Fructose and mannose metabolism_Homo sapiens_hsa000511.50431055
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.49133077
30Carbon metabolism_Homo sapiens_hsa012001.42786654
31Cardiac muscle contraction_Homo sapiens_hsa042601.30178630
32Pyruvate metabolism_Homo sapiens_hsa006201.29658038
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.29400069
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.29113336
35Purine metabolism_Homo sapiens_hsa002301.26667479
36Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.23750233
37Vibrio cholerae infection_Homo sapiens_hsa051101.19720646
38SNARE interactions in vesicular transport_Homo sapiens_hsa041301.13938634
39N-Glycan biosynthesis_Homo sapiens_hsa005101.07792167
40Other glycan degradation_Homo sapiens_hsa005110.98036058
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97637972
42Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.93674029
43Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.92557130
44Glycosaminoglycan degradation_Homo sapiens_hsa005310.88635041
45Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.87244891
46Phenylalanine metabolism_Homo sapiens_hsa003600.79871393
47Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.79622818
48RNA transport_Homo sapiens_hsa030130.79462899
49Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.78143371
50Shigellosis_Homo sapiens_hsa051310.76805329
51Metabolic pathways_Homo sapiens_hsa011000.76052835
52Endocytosis_Homo sapiens_hsa041440.75426309
53Drug metabolism - other enzymes_Homo sapiens_hsa009830.74802471
54Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74104699
55Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73663443
56Spliceosome_Homo sapiens_hsa030400.72953855
57Epstein-Barr virus infection_Homo sapiens_hsa051690.72014693
58RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.68985103
59Apoptosis_Homo sapiens_hsa042100.67951836
60Tyrosine metabolism_Homo sapiens_hsa003500.63387019
61Viral myocarditis_Homo sapiens_hsa054160.59177516
62Cysteine and methionine metabolism_Homo sapiens_hsa002700.55606002
63Synaptic vesicle cycle_Homo sapiens_hsa047210.53890184
64Lysosome_Homo sapiens_hsa041420.51630733
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.50430195
66Antigen processing and presentation_Homo sapiens_hsa046120.46685631
67Cell cycle_Homo sapiens_hsa041100.46578237
68Arginine and proline metabolism_Homo sapiens_hsa003300.45078932
69p53 signaling pathway_Homo sapiens_hsa041150.44922222
70Peroxisome_Homo sapiens_hsa041460.44891241
71Bladder cancer_Homo sapiens_hsa052190.44515208
72Fatty acid biosynthesis_Homo sapiens_hsa000610.44365698
73Basal transcription factors_Homo sapiens_hsa030220.41830586
74Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.39332081
75Mineral absorption_Homo sapiens_hsa049780.37169579
76Legionellosis_Homo sapiens_hsa051340.36332724
77Steroid biosynthesis_Homo sapiens_hsa001000.34972655
78Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33808905
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32547417
80Salmonella infection_Homo sapiens_hsa051320.31690129
81Sulfur metabolism_Homo sapiens_hsa009200.30408827
82Viral carcinogenesis_Homo sapiens_hsa052030.29187528
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.29070352
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.27989587
85Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.27897127
86Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.26257349
87Chemical carcinogenesis_Homo sapiens_hsa052040.25779073
88Starch and sucrose metabolism_Homo sapiens_hsa005000.23959030
89Fatty acid metabolism_Homo sapiens_hsa012120.23809770
90Propanoate metabolism_Homo sapiens_hsa006400.23109003
91HIF-1 signaling pathway_Homo sapiens_hsa040660.22568015
92Protein export_Homo sapiens_hsa030600.21692201
93Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21442618
94Herpes simplex infection_Homo sapiens_hsa051680.20290436
95Oocyte meiosis_Homo sapiens_hsa041140.19470837
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.19285608
97Fanconi anemia pathway_Homo sapiens_hsa034600.17045672
98NF-kappa B signaling pathway_Homo sapiens_hsa040640.14799634
99Arachidonic acid metabolism_Homo sapiens_hsa005900.13742579
100Regulation of actin cytoskeleton_Homo sapiens_hsa048100.12587738

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