SPANXA2

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 gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study 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
1fusion of sperm to egg plasma membrane (GO:0007342)8.33883565
2regulation of growth hormone secretion (GO:0060123)8.19452718
3acrosome reaction (GO:0007340)6.48120195
4plasma membrane fusion (GO:0045026)6.35326343
5chromosome condensation (GO:0030261)6.05159569
6sperm motility (GO:0030317)6.01569748
7DNA packaging (GO:0006323)5.89094039
8positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-5.69891354
9sperm-egg recognition (GO:0035036)5.62907453
10sperm capacitation (GO:0048240)5.28058571
11multicellular organism reproduction (GO:0032504)5.25766818
12regulation of cilium movement (GO:0003352)5.21256517
13binding of sperm to zona pellucida (GO:0007339)5.17451794
14rRNA methylation (GO:0031167)4.90729996
15reproduction (GO:0000003)4.70600460
16rRNA modification (GO:0000154)4.61453111
17spermatid development (GO:0007286)4.51298505
18single strand break repair (GO:0000012)4.45747484
19cell-cell recognition (GO:0009988)4.37347595
20spermatogenesis (GO:0007283)4.19029706
21male gamete generation (GO:0048232)4.17086441
22COPI coating of Golgi vesicle (GO:0048205)4.10045285
23Golgi transport vesicle coating (GO:0048200)4.10045285
24spermatid nucleus differentiation (GO:0007289)4.03169882
25attachment of spindle microtubules to kinetochore (GO:0008608)3.94398546
26response to pheromone (GO:0019236)3.92519465
27sexual reproduction (GO:0019953)3.91196172
28gamete generation (GO:0007276)3.81496218
29formation of translation preinitiation complex (GO:0001731)3.79688027
30microtubule depolymerization (GO:0007019)3.75935204
31negative regulation of inclusion body assembly (GO:0090084)3.75619166
32hepatocyte apoptotic process (GO:0097284)3.52548082
33viral transcription (GO:0019083)3.52311608
34negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.50640892
35male meiosis (GO:0007140)3.39232501
36translational termination (GO:0006415)3.36230883
37regulation of mitochondrial translation (GO:0070129)3.32633772
38regulation of microtubule-based movement (GO:0060632)3.30380386
39protein maturation by protein folding (GO:0022417)3.29216795
40phosphatidylethanolamine biosynthetic process (GO:0006646)3.25607804
41microtubule severing (GO:0051013)3.25460914
42ribosomal small subunit assembly (GO:0000028)3.25220751
43viral protein processing (GO:0019082)3.17351167
44proteasome assembly (GO:0043248)3.15284635
45multicellular organismal reproductive process (GO:0048609)3.12031932
46peptidyl-proline hydroxylation (GO:0019511)3.10144713
47single fertilization (GO:0007338)3.09076782
48SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.07265727
49ribosome assembly (GO:0042255)3.05273453
50cellular protein complex disassembly (GO:0043624)3.02775488
51protein targeting to ER (GO:0045047)2.98524174
52embryonic skeletal joint morphogenesis (GO:0060272)2.97921757
53cotranslational protein targeting to membrane (GO:0006613)2.96618249
54viral life cycle (GO:0019058)2.95517743
55phosphatidylethanolamine metabolic process (GO:0046337)2.94962095
56calcium ion-dependent exocytosis (GO:0017156)2.94097480
57kidney mesenchyme development (GO:0072074)2.93040503
58atrioventricular valve morphogenesis (GO:0003181)2.92971657
59regulation of centriole replication (GO:0046599)2.92787043
60regulation of inclusion body assembly (GO:0090083)2.92225995
61protein complex disassembly (GO:0043241)2.92071089
62nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.91261406
63response to acidic pH (GO:0010447)2.90418857
64regulation of histone H3-K27 methylation (GO:0061085)2.90287272
65protein localization to endoplasmic reticulum (GO:0070972)2.88675754
66translational elongation (GO:0006414)2.88466029
67negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.86802180
68cell morphogenesis involved in neuron differentiation (GO:0048667)2.85959300
69metanephric mesenchyme development (GO:0072075)2.85448338
70pattern specification involved in kidney development (GO:0061004)2.84928858
71establishment of protein localization to endoplasmic reticulum (GO:0072599)2.81188176
72protein targeting to Golgi (GO:0000042)2.81059520
73translational initiation (GO:0006413)2.80562622
74cellular response to pH (GO:0071467)2.79563881
75macromolecular complex disassembly (GO:0032984)2.78913079
76retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.78849400
77germ cell development (GO:0007281)2.78150487
78regulation of endocrine process (GO:0044060)2.78095089
79retrograde transport, vesicle recycling within Golgi (GO:0000301)2.76483079
80membrane raft organization (GO:0031579)2.74232887
81positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.73977521
82fertilization (GO:0009566)2.67719629
83chaperone-mediated protein complex assembly (GO:0051131)2.65991095
84regulation of mammary gland epithelial cell proliferation (GO:0033599)2.64757325
85regulation of interleukin-13 production (GO:0032656)2.62226769
86positive regulation of Cdc42 GTPase activity (GO:0043089)2.61564673
87cellular process involved in reproduction in multicellular organism (GO:0022412)2.59366939
88negative regulation of DNA-templated transcription, elongation (GO:0032785)2.58571889
89maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.56784278
90establishment of protein localization to Golgi (GO:0072600)2.56221846
91ribosomal large subunit biogenesis (GO:0042273)2.56199179
92RNA localization (GO:0006403)2.55174835
93regulation of early endosome to late endosome transport (GO:2000641)2.54828426
94regulation of cholesterol homeostasis (GO:2000188)2.54039565
95positive regulation of DNA-dependent DNA replication (GO:2000105)2.52444025
96ribosomal small subunit biogenesis (GO:0042274)2.49415431
97microtubule polymerization or depolymerization (GO:0031109)2.49293960
98protein retention in ER lumen (GO:0006621)2.48624162
99regulation of gonadotropin secretion (GO:0032276)11.7549573
100positive regulation of growth hormone secretion (GO:0060124)11.1907042

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.64059991
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.70963958
3HIF1A_21447827_ChIP-Seq_MCF-7_Human3.23168933
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.16050054
5DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.97392111
6MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.81454996
7DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.28831922
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.24431731
9TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.22092916
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.19591655
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.13379272
12TFEB_21752829_ChIP-Seq_HELA_Human2.02614681
13PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.97691940
14ATF3_27146783_Chip-Seq_COLON_Human1.95900314
15ZNF263_19887448_ChIP-Seq_K562_Human1.93084314
16MYC_19079543_ChIP-ChIP_MESCs_Mouse1.88687572
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.88382361
18ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.87121684
19TET1_21451524_ChIP-Seq_MESCs_Mouse1.86460769
20POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.85010363
21MYC_18555785_ChIP-Seq_MESCs_Mouse1.83076870
22P68_20966046_ChIP-Seq_HELA_Human1.82352472
23ELK3_25401928_ChIP-Seq_HUVEC_Human1.81354050
24ETS1_20019798_ChIP-Seq_JURKAT_Human1.80733252
25CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.78862435
26ELF1_20517297_ChIP-Seq_JURKAT_Human1.76835746
27MYC_18358816_ChIP-ChIP_MESCs_Mouse1.73795736
28CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.72533862
29GABP_17652178_ChIP-ChIP_JURKAT_Human1.66090923
30CREB1_15753290_ChIP-ChIP_HEK293T_Human1.65329204
31HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.64702189
32RACK7_27058665_Chip-Seq_MCF-7_Human1.61661533
33CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.61594750
34LXR_22292898_ChIP-Seq_THP-1_Human1.59775199
35STAT6_21828071_ChIP-Seq_BEAS2B_Human1.58557150
36XRN2_22483619_ChIP-Seq_HELA_Human1.56952037
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.55162805
38CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.50468688
39TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.48638079
40CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.48189689
41ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47810921
42TDRD3_21172665_ChIP-Seq_MCF-7_Human1.47168442
43TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.47141331
44RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.45956295
45TTF2_22483619_ChIP-Seq_HELA_Human1.45327004
46EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.40139591
47DCP1A_22483619_ChIP-Seq_HELA_Human1.39487734
48BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.39216175
49KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.38800516
50YY1_22570637_ChIP-Seq_MALME-3M_Human1.37582456
51KLF4_18555785_ChIP-Seq_MESCs_Mouse1.35517929
52CSB_26484114_Chip-Seq_FIBROBLAST_Human1.34885382
53JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34602720
54GABP_19822575_ChIP-Seq_HepG2_Human1.33145802
55PKCTHETA_26484144_Chip-Seq_BREAST_Human1.32606099
56FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.31115911
57BCOR_27268052_Chip-Seq_Bcells_Human1.30997291
58KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.30994404
59BCL6_27268052_Chip-Seq_Bcells_Human1.30512791
60E2F1_20622854_ChIP-Seq_HELA_Human1.29587623
61MYC_19030024_ChIP-ChIP_MESCs_Mouse1.28828043
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28259562
63FOXP1_21924763_ChIP-Seq_HESCs_Human1.28228103
64TP63_19390658_ChIP-ChIP_HaCaT_Human1.27153128
65SMC4_20622854_ChIP-Seq_HELA_Human1.24149127
66ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.21213700
67MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.21072970
68* RUNX1_27514584_Chip-Seq_MCF-7_Human1.19147178
69CTCF_21964334_Chip-Seq_Bcells_Human1.18860743
70CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.16879419
71ELF5_23300383_ChIP-Seq_T47D_Human1.16747392
72JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16522679
73PHF8_20622854_ChIP-Seq_HELA_Human1.13880103
74RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.13258798
75NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.13057467
76NANOG_21062744_ChIP-ChIP_HESCs_Human1.12046745
77SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.10858403
78ELF1_17652178_ChIP-ChIP_JURKAT_Human1.10706013
79PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09298895
80ESR2_21235772_ChIP-Seq_MCF-7_Human1.09186113
81ELK1_22589737_ChIP-Seq_MCF10A_Human1.09048984
82ERA_21632823_ChIP-Seq_H3396_Human1.06983591
83KDM5A_27292631_Chip-Seq_BREAST_Human1.05845663
84PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.05355281
85KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.04136773
86KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.04136773
87KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.04136773
88SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.03510180
89SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.03510180
90NELFA_20434984_ChIP-Seq_ESCs_Mouse1.03508129
91EST1_17652178_ChIP-ChIP_JURKAT_Human1.01519119
92UBF1/2_26484160_Chip-Seq_HMECs_Human1.01367364
93YY1_21170310_ChIP-Seq_MESCs_Mouse1.00683828
94TP53_22127205_ChIP-Seq_IMR90_Human1.00279791
95ZFX_18555785_ChIP-Seq_MESCs_Mouse0.99841379
96RARA_24833708_ChIP-Seq_LIVER_Mouse0.99485554
97CTCF_20526341_ChIP-Seq_ESCs_Human0.98478590
98KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.97266020
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.96755338
100ESR1_20079471_ChIP-ChIP_T-47D_Human0.96586269

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology9.02243177
2MP0005410_abnormal_fertilization6.30155531
3MP0005379_endocrine/exocrine_gland_phen6.26287286
4MP0005670_abnormal_white_adipose3.59710054
5MP0004510_myositis3.16616095
6MP0003950_abnormal_plasma_membrane2.98160623
7MP0000613_abnormal_salivary_gland2.91469475
8MP0001348_abnormal_lacrimal_gland2.87985554
9MP0005451_abnormal_body_composition2.49465886
10MP0009840_abnormal_foam_cell2.44605644
11MP0009379_abnormal_foot_pigmentation2.38632614
12MP0001929_abnormal_gametogenesis2.37008594
13MP0003698_abnormal_male_reproductive2.24214114
14MP0000749_muscle_degeneration2.17474814
15MP0000647_abnormal_sebaceous_gland2.10290942
16MP0009053_abnormal_anal_canal2.07687628
17MP0003123_paternal_imprinting2.04769399
18MP0000639_abnormal_adrenal_gland1.86563346
19MP0004233_abnormal_muscle_weight1.78379759
20MP0002210_abnormal_sex_determination1.69996055
21MP0003806_abnormal_nucleotide_metabolis1.60174260
22MP0002796_impaired_skin_barrier1.48409025
23MP0000750_abnormal_muscle_regeneration1.47650365
24MP0000678_abnormal_parathyroid_gland1.42828339
25MP0002161_abnormal_fertility/fecundity1.40732862
26MP0000751_myopathy1.38442540
27MP0000534_abnormal_ureter_morphology1.31840378
28MP0002332_abnormal_exercise_endurance1.29162366
29MP0004264_abnormal_extraembryonic_tissu1.27618195
30MP0009697_abnormal_copulation1.25034123
31MP0003077_abnormal_cell_cycle1.24582787
32MP0000003_abnormal_adipose_tissue1.23717015
33MP0005666_abnormal_adipose_tissue1.22882512
34MP0003718_maternal_effect1.22627651
35MP0000013_abnormal_adipose_tissue1.22459220
36MP0003936_abnormal_reproductive_system1.19090947
37MP0005375_adipose_tissue_phenotype1.16257841
38MP0005501_abnormal_skin_physiology1.12995615
39MP0004957_abnormal_blastocyst_morpholog1.12219537
40MP0000537_abnormal_urethra_morphology1.06104205
41MP0003566_abnormal_cell_adhesion1.03995112
42MP0010030_abnormal_orbit_morphology1.02172922
43MP0000653_abnormal_sex_gland1.00611756
44MP0001145_abnormal_male_reproductive0.98519533
45MP0003942_abnormal_urinary_system0.94555234
46MP0005423_abnormal_somatic_nervous0.90243445
47MP0002269_muscular_atrophy0.88572535
48MP0005257_abnormal_intraocular_pressure0.88276151
49MP0005083_abnormal_biliary_tract0.88267558
50MP0003786_premature_aging0.85882305
51MP0000733_abnormal_muscle_development0.84152714
52MP0002132_abnormal_respiratory_system0.83992632
53MP0001340_abnormal_eyelid_morphology0.83281472
54MP0005409_darkened_coat_color0.82185663
55MP0003646_muscle_fatigue0.81293232
56MP0001919_abnormal_reproductive_system0.78336331
57MP0004185_abnormal_adipocyte_glucose0.77665770
58MP0001873_stomach_inflammation0.77188702
59MP0001529_abnormal_vocalization0.76543212
60MP0003191_abnormal_cellular_cholesterol0.76277878
61MP0002282_abnormal_trachea_morphology0.75247601
62MP0002080_prenatal_lethality0.72614935
63MP0002249_abnormal_larynx_morphology0.72187480
64MP0002089_abnormal_postnatal_growth/wei0.71318892
65MP0005503_abnormal_tendon_morphology0.70341810
66MP0000358_abnormal_cell_content/0.69982577
67MP0005408_hypopigmentation0.69741714
68MP0003638_abnormal_response/metabolism_0.67829913
69MP0000759_abnormal_skeletal_muscle0.67800663
70MP0008260_abnormal_autophagy0.67603455
71MP0002653_abnormal_ependyma_morphology0.63349554
72MP0008789_abnormal_olfactory_epithelium0.63256339
73MP0002234_abnormal_pharynx_morphology0.62880789
74MP0003878_abnormal_ear_physiology0.62314585
75MP0005377_hearing/vestibular/ear_phenot0.62314585
76MP0003329_amyloid_beta_deposits0.60402364
77MP0003186_abnormal_redox_activity0.59856255
78MP0002060_abnormal_skin_morphology0.59370812
79MP0003091_abnormal_cell_migration0.57261542
80MP0010234_abnormal_vibrissa_follicle0.54870851
81MP0009780_abnormal_chondrocyte_physiolo0.54172844
82MP0001765_abnormal_ion_homeostasis0.52217584
83MP0003693_abnormal_embryo_hatching0.50910577
84MP0003111_abnormal_nucleus_morphology0.50413548
85MP0004197_abnormal_fetal_growth/weight/0.50259925
86MP0000313_abnormal_cell_death0.48935107
87MP0008007_abnormal_cellular_replicative0.48108297
88MP0001879_abnormal_lymphatic_vessel0.47321615
89MP0000371_diluted_coat_color0.47058506
90MP0010771_integument_phenotype0.46574716
91MP0000350_abnormal_cell_proliferation0.45661620
92MP0000747_muscle_weakness0.45238262
93MP0002896_abnormal_bone_mineralization0.44730685
94MP0003959_abnormal_lean_body0.43650272
95MP0005165_increased_susceptibility_to0.43244292
96MP0002932_abnormal_joint_morphology0.43186485
97MP0004272_abnormal_basement_membrane0.42947147
98MP0003300_gastrointestinal_ulcer0.42396550
99MP0005164_abnormal_response_to0.42017706
100MP0010368_abnormal_lymphatic_system0.42016799

Predicted human phenotypes

RankGene SetZ-score
1Male infertility (HP:0003251)6.19692936
2Nasal polyposis (HP:0100582)3.96732992
3Axonal loss (HP:0003447)3.83275630
4Microglossia (HP:0000171)3.65127796
5Anosmia (HP:0000458)3.61299801
6Vertebral compression fractures (HP:0002953)3.55195492
7Spastic paraparesis (HP:0002313)3.53254343
8Septate vagina (HP:0001153)3.52313347
9Upper motor neuron abnormality (HP:0002127)3.44453771
10Broad face (HP:0000283)3.19128486
11Glossoptosis (HP:0000162)3.09271517
12Difficulty climbing stairs (HP:0003551)3.06430256
13Abnormality of the nasal mucosa (HP:0000433)3.03983107
14Distal lower limb muscle weakness (HP:0009053)3.01812566
15Renal Fanconi syndrome (HP:0001994)3.00970043
16Severe visual impairment (HP:0001141)2.99869341
17Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.96854335
18Infertility (HP:0000789)2.95898542
19Short nail (HP:0001799)2.94639826
20Abnormal spermatogenesis (HP:0008669)2.94583189
21Hypoplastic left heart (HP:0004383)2.93807263
22Hypogonadotrophic hypogonadism (HP:0000044)2.90815452
23Exostoses (HP:0100777)2.87758174
24Asymmetric septal hypertrophy (HP:0001670)2.86680352
25Abnormality of the proximal phalanges of the hand (HP:0009834)2.79933245
26Abnormality of the costochondral junction (HP:0000919)2.74378024
27Aplasia/hypoplasia of the humerus (HP:0006507)2.69677308
28Micronodular cirrhosis (HP:0001413)2.67672389
29Concave nail (HP:0001598)2.64734933
30Tetraparesis (HP:0002273)2.63855543
31Resting tremor (HP:0002322)2.62785475
32Arterial tortuosity (HP:0005116)2.61120279
33Trismus (HP:0000211)2.55457047
34Abnormality of the distal phalanges of the toes (HP:0010182)2.54470863
35Upper limb muscle weakness (HP:0003484)2.53794570
36Short humerus (HP:0005792)2.52034672
37J-shaped sella turcica (HP:0002680)2.50589095
38Progressive sensorineural hearing impairment (HP:0000408)2.47526693
39Bony spicule pigmentary retinopathy (HP:0007737)2.44719381
40Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.44357194
41Abnormality of cells of the erythroid lineage (HP:0012130)2.44350106
42Deformed sella turcica (HP:0002681)2.37112777
43Sparse lateral eyebrow (HP:0005338)2.36821378
44Unilateral renal agenesis (HP:0000122)2.33815527
45Hypoplastic heart (HP:0001961)2.29751650
46Hydroureter (HP:0000072)2.28229234
47Vascular calcification (HP:0004934)2.26310575
48Bell-shaped thorax (HP:0001591)2.25806621
49Glucose intolerance (HP:0000833)2.23645313
50Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.23420437
51Deviation of the thumb (HP:0009603)2.21516552
52Upper limb amyotrophy (HP:0009129)2.21174237
53Distal upper limb amyotrophy (HP:0007149)2.21174237
54Facial cleft (HP:0002006)2.16781896
55Nuclear cataract (HP:0100018)2.16363243
56Cholecystitis (HP:0001082)2.10014743
57Abnormal gallbladder physiology (HP:0012438)2.10014743
58Progressive hearing impairment (HP:0001730)2.07148945
59Hyperkalemia (HP:0002153)2.04731700
60Cutaneous melanoma (HP:0012056)2.04479709
61Easy fatigability (HP:0003388)2.01908987
62Vascular tortuosity (HP:0004948)1.99508230
63Severe Myopia (HP:0011003)1.99490485
64Flattened epiphyses (HP:0003071)1.98870127
65Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.98072430
66Focal segmental glomerulosclerosis (HP:0000097)1.97908631
67Proximal placement of thumb (HP:0009623)1.96659845
68Hypoglycemic seizures (HP:0002173)1.94281468
69Abnormality of the humerus (HP:0003063)1.90425808
70Generalized aminoaciduria (HP:0002909)1.89429095
71Flat capital femoral epiphysis (HP:0003370)1.88578129
72Multiple enchondromatosis (HP:0005701)1.88554587
73Absent frontal sinuses (HP:0002688)1.88400937
74Ventricular tachycardia (HP:0004756)1.87817248
75Abnormality of the upper arm (HP:0001454)1.87574899
76Abnormality of the sella turcica (HP:0002679)1.86680892
77Cardiovascular calcification (HP:0011915)1.86267788
78Reticulocytopenia (HP:0001896)1.85896700
79Hand muscle atrophy (HP:0009130)1.85553223
80Abnormal number of erythroid precursors (HP:0012131)1.84171969
81Rhizomelia (HP:0008905)1.84002396
82Abdominal distention (HP:0003270)1.83363916
83Increased connective tissue (HP:0009025)1.83138939
84Heterotopia (HP:0002282)1.81750848
85Amniotic constriction ring (HP:0009775)1.79874674
86Abnormality of placental membranes (HP:0011409)1.79874674
87Menstrual irregularities (HP:0000858)1.78822369
88Wide cranial sutures (HP:0010537)1.77784596
89Fatigue (HP:0012378)1.76346819
90Complete atrioventricular canal defect (HP:0001674)1.76045878
91Testicular atrophy (HP:0000029)1.75856104
92Entropion (HP:0000621)1.74799120
93Acanthosis nigricans (HP:0000956)1.73978642
94Flat acetabular roof (HP:0003180)1.73239583
95Paraparesis (HP:0002385)1.73090133
96Conjugated hyperbilirubinemia (HP:0002908)1.72060413
97Abnormality of the right ventricle (HP:0001707)1.72010305
98Attenuation of retinal blood vessels (HP:0007843)1.71907948
99Absent/shortened dynein arms (HP:0200106)1.71517206
100Dynein arm defect of respiratory motile cilia (HP:0012255)1.71517206

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK15.74855714
2NME23.74785106
3SCYL23.59068574
4SIK13.39988697
5MST1R3.21079930
6ARAF2.99853749
7STK382.59507086
8CDK192.46933521
9PLK42.44860797
10MAP3K92.44071484
11BRAF2.37496969
12EPHB22.30697349
13TESK22.10831013
14VRK22.06698634
15PAK42.01700208
16LIMK11.97170700
17EPHA21.88353270
18IRAK31.87103697
19MET1.86255302
20BUB11.71661433
21EIF2AK11.65223907
22CDK81.64428543
23MOS1.55712627
24SRPK11.45922006
25PTK21.33597957
26TTN1.31948895
27MAP2K21.22536477
28BMPR1B1.18360395
29CDK71.17687547
30KSR21.15538619
31TRIB31.10247487
32PDPK11.08928281
33RPS6KB21.05815800
34MAP3K131.04563045
35LMTK21.02749160
36ERN11.01373750
37SMG11.00171704
38MAP3K120.98207560
39ABL20.97139260
40MTOR0.97010684
41DDR20.96548397
42PRKD30.86365115
43STK160.83779405
44PTK2B0.83183660
45EPHB10.82826700
46SIK30.79763439
47ERBB40.79456696
48LATS20.78356496
49BRD40.76631224
50PIM20.74970253
51LRRK20.74545408
52WNK10.71435181
53MAPKAPK30.69959356
54PDK10.69677445
55EIF2AK30.69037617
56MAP3K110.68387693
57BMPR20.66384249
58DMPK0.65181339
59ILK0.64645563
60MAP3K80.63841423
61NTRK10.63806841
62ICK0.63502886
63DYRK30.62828098
64FLT30.61141586
65TAOK20.61055848
66NEK60.59044484
67CDK120.57586190
68PLK10.54558004
69NEK10.52593567
70MAP3K10.52485401
71BRSK10.51455198
72PBK0.51138595
73ROCK10.50549223
74AURKA0.50231009
75INSRR0.49802779
76TAF10.48998330
77RAF10.47791851
78PKN20.46429422
79MARK20.45700515
80PRKG20.45091562
81CDK90.44388870
82DAPK10.43609795
83PLK20.42961416
84PIK3CG0.41833179
85PAK10.41582148
86PNCK0.41068425
87PRKD20.40336623
88BMX0.40235451
89DYRK1B0.39411052
90CHEK20.39122758
91PASK0.38301456
92ROCK20.38181130
93RPS6KA20.37740474
94CHUK0.36923304
95HIPK20.34972559
96PKN10.34040290
97KDR0.32498208
98EIF2AK20.32189371
99MAPK150.31184994
100SIK20.31100731

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.07075284
2Proteasome_Homo sapiens_hsa030502.98521318
3Fatty acid biosynthesis_Homo sapiens_hsa000612.79629988
4Nucleotide excision repair_Homo sapiens_hsa034202.76570696
5Base excision repair_Homo sapiens_hsa034102.72128244
6Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.70983885
7Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.43321922
8Sulfur relay system_Homo sapiens_hsa041222.29428658
9RNA transport_Homo sapiens_hsa030132.13776497
10Pyrimidine metabolism_Homo sapiens_hsa002401.98384266
11Endocytosis_Homo sapiens_hsa041441.93216004
12DNA replication_Homo sapiens_hsa030301.78249620
13Pentose phosphate pathway_Homo sapiens_hsa000301.71112001
14Central carbon metabolism in cancer_Homo sapiens_hsa052301.65476026
15Huntingtons disease_Homo sapiens_hsa050161.61830802
16RNA polymerase_Homo sapiens_hsa030201.61624757
17Galactose metabolism_Homo sapiens_hsa000521.57009436
18Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.53032811
19Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.50823928
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.50466309
21VEGF signaling pathway_Homo sapiens_hsa043701.44136407
22Biosynthesis of amino acids_Homo sapiens_hsa012301.42185167
23Spliceosome_Homo sapiens_hsa030401.37627813
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37140962
25Bladder cancer_Homo sapiens_hsa052191.35963320
26Fructose and mannose metabolism_Homo sapiens_hsa000511.31181289
27Non-homologous end-joining_Homo sapiens_hsa034501.30308985
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.28243719
29Oxidative phosphorylation_Homo sapiens_hsa001901.26729793
30Mismatch repair_Homo sapiens_hsa034301.23416996
31Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.17615437
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.15305653
33Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.13811087
34Parkinsons disease_Homo sapiens_hsa050121.13215871
35Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.13183204
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.12903542
37Vitamin B6 metabolism_Homo sapiens_hsa007501.12057073
38N-Glycan biosynthesis_Homo sapiens_hsa005101.10960671
39Chronic myeloid leukemia_Homo sapiens_hsa052201.09716872
40mRNA surveillance pathway_Homo sapiens_hsa030151.09534019
41Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.09043609
42Cardiac muscle contraction_Homo sapiens_hsa042601.07884721
43Basal transcription factors_Homo sapiens_hsa030221.07137468
44Thyroid cancer_Homo sapiens_hsa052161.04962726
45Synaptic vesicle cycle_Homo sapiens_hsa047211.01176713
46Carbon metabolism_Homo sapiens_hsa012000.97275298
47Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.94224659
48Pancreatic cancer_Homo sapiens_hsa052120.91460194
49Acute myeloid leukemia_Homo sapiens_hsa052210.90277761
50Purine metabolism_Homo sapiens_hsa002300.87893326
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.86522716
52Epstein-Barr virus infection_Homo sapiens_hsa051690.86196086
53Prion diseases_Homo sapiens_hsa050200.86115008
54Viral carcinogenesis_Homo sapiens_hsa052030.83774963
55Circadian rhythm_Homo sapiens_hsa047100.82907434
56Vibrio cholerae infection_Homo sapiens_hsa051100.82440371
57Insulin signaling pathway_Homo sapiens_hsa049100.82320447
58Cell cycle_Homo sapiens_hsa041100.81311990
59Folate biosynthesis_Homo sapiens_hsa007900.80025897
60Glycosaminoglycan degradation_Homo sapiens_hsa005310.79419171
61Drug metabolism - other enzymes_Homo sapiens_hsa009830.78285605
62Endometrial cancer_Homo sapiens_hsa052130.71863646
63Renal cell carcinoma_Homo sapiens_hsa052110.71710869
64Alzheimers disease_Homo sapiens_hsa050100.71004345
65Influenza A_Homo sapiens_hsa051640.68214643
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68057228
67mTOR signaling pathway_Homo sapiens_hsa041500.65911820
68Adipocytokine signaling pathway_Homo sapiens_hsa049200.63693590
69Sulfur metabolism_Homo sapiens_hsa009200.62548503
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.62039441
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61615024
72Tight junction_Homo sapiens_hsa045300.61514399
73Arginine biosynthesis_Homo sapiens_hsa002200.61177142
74AMPK signaling pathway_Homo sapiens_hsa041520.59725287
75Phenylalanine metabolism_Homo sapiens_hsa003600.57343585
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.57270055
77Non-small cell lung cancer_Homo sapiens_hsa052230.56537605
78Fatty acid metabolism_Homo sapiens_hsa012120.55696270
79Type II diabetes mellitus_Homo sapiens_hsa049300.55019546
80Colorectal cancer_Homo sapiens_hsa052100.54560378
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53729784
82Focal adhesion_Homo sapiens_hsa045100.53119032
83Legionellosis_Homo sapiens_hsa051340.52756412
84Hippo signaling pathway_Homo sapiens_hsa043900.50456221
85Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50073310
86Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.49058082
87Olfactory transduction_Homo sapiens_hsa047400.48166332
88Glutathione metabolism_Homo sapiens_hsa004800.47682965
89Proteoglycans in cancer_Homo sapiens_hsa052050.46492773
90Fatty acid elongation_Homo sapiens_hsa000620.46182187
91Inositol phosphate metabolism_Homo sapiens_hsa005620.45880023
92Fanconi anemia pathway_Homo sapiens_hsa034600.45663581
93HTLV-I infection_Homo sapiens_hsa051660.45001474
94Apoptosis_Homo sapiens_hsa042100.44321885
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.41848371
96Insulin resistance_Homo sapiens_hsa049310.41258018
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41141568
98ErbB signaling pathway_Homo sapiens_hsa040120.39597324
99Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39226794
100Small cell lung cancer_Homo sapiens_hsa052220.37742141

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