TSPY1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* mesoderm development (GO:0007498)8.03229707
2* mesenchyme development (GO:0060485)7.46598709
3* gonadal mesoderm development (GO:0007506)60.0430410
4N-acetylneuraminate metabolic process (GO:0006054)5.78033499
5* nucleosome assembly (GO:0006334)4.88858412
6* protein-DNA complex assembly (GO:0065004)4.20541712
7* nucleosome organization (GO:0034728)3.98838478
8* protein-DNA complex subunit organization (GO:0071824)3.53511114
9ribosomal small subunit biogenesis (GO:0042274)3.41633334
10ribosomal small subunit assembly (GO:0000028)3.14084233
11piRNA metabolic process (GO:0034587)3.03675118
12regulation of activation of Janus kinase activity (GO:0010533)2.94608604
13interleukin-6-mediated signaling pathway (GO:0070102)2.92451024
14positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.73662909
15mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.73662909
16regulation of meiosis I (GO:0060631)2.55067685
17mitotic chromosome condensation (GO:0007076)2.41385377
18apoptotic cell clearance (GO:0043277)2.38817758
19formation of translation preinitiation complex (GO:0001731)2.23324039
20protein K63-linked deubiquitination (GO:0070536)2.21227398
21protein K48-linked deubiquitination (GO:0071108)2.19256287
22regulation of isotype switching to IgG isotypes (GO:0048302)2.18402186
23viral transcription (GO:0019083)2.13774056
24sialylation (GO:0097503)2.11640941
25COPI coating of Golgi vesicle (GO:0048205)2.11597606
26Golgi transport vesicle coating (GO:0048200)2.11597606
27translational termination (GO:0006415)2.10195185
28mitotic sister chromatid cohesion (GO:0007064)2.09640942
29positive regulation of viral genome replication (GO:0045070)2.08405738
30SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.02623558
31positive regulation of translational initiation (GO:0045948)2.02078725
32protein localization to endoplasmic reticulum (GO:0070972)1.98944154
33translational elongation (GO:0006414)1.97783085
34cotranslational protein targeting to membrane (GO:0006613)1.97454776
35protein targeting to ER (GO:0045047)1.95535434
36* spermatogenesis (GO:0007283)1.95317247
37* male gamete generation (GO:0048232)1.95295980
38positive regulation of meiosis (GO:0045836)1.93071416
39positive regulation of inflammatory response to antigenic stimulus (GO:0002863)1.91557733
40negative regulation of Notch signaling pathway (GO:0045746)1.88597617
41establishment of protein localization to endoplasmic reticulum (GO:0072599)1.88171674
42male meiosis (GO:0007140)1.85016177
43ribonucleoprotein complex biogenesis (GO:0022613)1.83874360
44positive regulation of meiotic cell cycle (GO:0051446)1.78799366
45mitotic metaphase plate congression (GO:0007080)1.78393003
46* gamete generation (GO:0007276)1.77785720
47ncRNA 3-end processing (GO:0043628)1.76149301
48viral life cycle (GO:0019058)1.76029405
49nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)1.74644578
50nucleotide transmembrane transport (GO:1901679)1.74377085
51cellular response to interleukin-6 (GO:0071354)1.73346071
52positive regulation of interleukin-2 biosynthetic process (GO:0045086)1.73139757
53translational initiation (GO:0006413)1.72963974
54ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)1.69945534
55meiotic chromosome segregation (GO:0045132)1.69590702
56cellular sodium ion homeostasis (GO:0006883)1.68396612
57amyloid precursor protein catabolic process (GO:0042987)1.67728237
58positive regulation of mitochondrial membrane permeability (GO:0035794)1.66157134
59* reproductive structure development (GO:0048608)1.66153602
60regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)1.65473190
61positive regulation of alpha-beta T cell proliferation (GO:0046641)1.65033153
62regulation of translational fidelity (GO:0006450)1.64854914
63COPII vesicle coating (GO:0048208)1.63943085
64regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022351.63823547
65ribosome biogenesis (GO:0042254)1.62390448
66protein N-linked glycosylation via asparagine (GO:0018279)1.62212796
67establishment of integrated proviral latency (GO:0075713)1.61199761
68ER overload response (GO:0006983)1.61036619
69amyloid precursor protein metabolic process (GO:0042982)1.60345145
70peptidyl-asparagine modification (GO:0018196)1.60261507
71cellular protein complex disassembly (GO:0043624)1.60227811
72N-terminal protein amino acid acetylation (GO:0006474)1.58343372
73DNA methylation involved in gamete generation (GO:0043046)1.56463212
74regulation of chromatin binding (GO:0035561)1.56437036
75chaperone mediated protein folding requiring cofactor (GO:0051085)1.56189404
76gene silencing by RNA (GO:0031047)1.55482736
77negative regulation of meiosis (GO:0045835)1.55399079
78male meiosis I (GO:0007141)1.55184062
79nucleotide transport (GO:0006862)1.54602517
80protein N-linked glycosylation (GO:0006487)1.51523940
81protein targeting to membrane (GO:0006612)1.50410425
82synapsis (GO:0007129)1.49311334
83neutrophil mediated immunity (GO:0002446)1.49281936
84proline biosynthetic process (GO:0006561)1.48844202
85regulation of translational initiation (GO:0006446)1.48730992
86somatic diversification of immune receptors via somatic mutation (GO:0002566)1.48272431
87somatic hypermutation of immunoglobulin genes (GO:0016446)1.48272431
88ganglioside metabolic process (GO:0001573)1.46990939
89DNA strand elongation involved in DNA replication (GO:0006271)1.46392687
90protein K6-linked ubiquitination (GO:0085020)1.45858362
91DNA strand elongation (GO:0022616)1.45773189
92sodium ion homeostasis (GO:0055078)1.43913677
93negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)1.43614418
94autophagic vacuole fusion (GO:0000046)1.42974039
95amino sugar metabolic process (GO:0006040)1.42375796
96DNA replication initiation (GO:0006270)1.42186212
97telomere maintenance via semi-conservative replication (GO:0032201)1.40820695
98regulation of penile erection (GO:0060405)1.40680418
99regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)1.39136749
100* multicellular organismal reproductive process (GO:0048609)1.38612146

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.45237257
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.10928338
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.86452646
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.76430677
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.68555188
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.24990414
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.07265759
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.03117507
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.95118407
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.93804018
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.79114212
12TFEB_21752829_ChIP-Seq_HELA_Human2.73834981
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.72272193
14THAP11_20581084_ChIP-Seq_MESCs_Mouse2.65519150
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.60685966
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.56567693
17DCP1A_22483619_ChIP-Seq_HELA_Human2.49907408
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.41886034
19MYC_19030024_ChIP-ChIP_MESCs_Mouse2.37859993
20MYC_18358816_ChIP-ChIP_MESCs_Mouse2.31973247
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.30987884
22FOXM1_23109430_ChIP-Seq_U2OS_Human2.28159393
23ZFX_18555785_ChIP-Seq_MESCs_Mouse2.27176161
24GABP_19822575_ChIP-Seq_HepG2_Human2.21002970
25CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat2.20260155
26TTF2_22483619_ChIP-Seq_HELA_Human2.15816635
27VDR_23849224_ChIP-Seq_CD4+_Human2.14464230
28MYCN_18555785_ChIP-Seq_MESCs_Mouse2.08520534
29FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.08101342
30FOXP3_21729870_ChIP-Seq_TREG_Human2.01211048
31YY1_21170310_ChIP-Seq_MESCs_Mouse2.00345123
32HOXB4_20404135_ChIP-ChIP_EML_Mouse1.96668010
33XRN2_22483619_ChIP-Seq_HELA_Human1.94898424
34IGF1R_20145208_ChIP-Seq_DFB_Human1.92659483
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.88991944
36POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.88096693
37EGR1_19374776_ChIP-ChIP_THP-1_Human1.86579148
38E2F1_18555785_ChIP-Seq_MESCs_Mouse1.85146693
39SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.83721873
40CIITA_25753668_ChIP-Seq_RAJI_Human1.83020019
41ERG_20887958_ChIP-Seq_HPC-7_Mouse1.80711650
42CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.80571191
43E2F1_21310950_ChIP-Seq_MCF-7_Human1.72195039
44MYC_22102868_ChIP-Seq_BL_Human1.71576366
45KDM5A_27292631_Chip-Seq_BREAST_Human1.69448011
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.67068730
47CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.65351734
48PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62079268
49ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.61401642
50DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.56992551
51HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.56265584
52SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.55363467
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.54540559
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.54309065
55ELK1_19687146_ChIP-ChIP_HELA_Human1.53714396
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.52068401
57PADI4_21655091_ChIP-ChIP_MCF-7_Human1.49911769
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.49248369
59YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.46358248
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.43158405
61BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.40924264
62CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.40526051
63PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.38711619
64NOTCH1_21737748_ChIP-Seq_TLL_Human1.34821612
65SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.34176743
66HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.33974511
67CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.33864125
68SRF_21415370_ChIP-Seq_HL-1_Mouse1.27036407
69RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25797074
70POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.21761062
71AR_21909140_ChIP-Seq_LNCAP_Human1.16054577
72ELF1_17652178_ChIP-ChIP_JURKAT_Human1.14470349
73SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.13787672
74FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.13552386
75TBX5_21415370_ChIP-Seq_HL-1_Mouse1.12682936
76ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.10165416
77KLF4_18555785_ChIP-Seq_MESCs_Mouse1.08275091
78PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.06547209
79KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.99520251
80E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.98122446
81SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.97173442
82CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.94190812
83SOX17_20123909_ChIP-Seq_XEN_Mouse0.93409541
84SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.89418945
85GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.88460667
86CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85822180
87MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.85612472
88E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.82963336
89ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.81597887
90GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.80935532
91ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.80345992
92PU.1_20513432_ChIP-Seq_Bcells_Mouse0.80274604
93TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.76988664
94IRF1_19129219_ChIP-ChIP_H3396_Human0.76238047
95FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75323598
96MYB_26560356_Chip-Seq_TH2_Human0.75262745
97CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.75130283
98GATA2_22383799_ChIP-Seq_G1ME_Mouse0.74690068
99CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.72667446
100KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.71794699

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation7.78168853
2MP0003136_yellow_coat_color5.21782101
3MP0003693_abnormal_embryo_hatching4.27803921
4MP0005058_abnormal_lysosome_morphology3.73260542
5MP0005171_absent_coat_pigmentation3.65144970
6MP0004957_abnormal_blastocyst_morpholog2.95212791
7MP0009333_abnormal_splenocyte_physiolog2.88431125
8MP0003111_abnormal_nucleus_morphology2.64360336
9MP0005174_abnormal_tail_pigmentation2.50067891
10MP0008057_abnormal_DNA_replication2.46318113
11MP0008058_abnormal_DNA_repair2.24886927
12MP0010368_abnormal_lymphatic_system2.21408320
13MP0003077_abnormal_cell_cycle2.12268585
14MP0009840_abnormal_foam_cell2.06659901
15MP0010307_abnormal_tumor_latency2.04659354
16MP0003183_abnormal_peptide_metabolism1.98902306
17MP0001348_abnormal_lacrimal_gland1.97983915
18MP0002210_abnormal_sex_determination1.96808511
19MP0005451_abnormal_body_composition1.94571785
20MP0008995_early_reproductive_senescence1.85239742
21MP0001929_abnormal_gametogenesis1.81503486
22MP0008932_abnormal_embryonic_tissue1.76537750
23MP0001145_abnormal_male_reproductive1.76258571
24MP0001730_embryonic_growth_arrest1.72049804
25MP0004043_abnormal_pH_regulation1.59745208
26MP0003172_abnormal_lysosome_physiology1.56703674
27MP0000350_abnormal_cell_proliferation1.55858966
28MP0002168_other_aberrant_phenotype1.52757082
29MP0000653_abnormal_sex_gland1.48228468
30MP0003698_abnormal_male_reproductive1.44699471
31MP0001188_hyperpigmentation1.42898911
32MP0000747_muscle_weakness1.42410730
33MP0003786_premature_aging1.41686354
34MP0010094_abnormal_chromosome_stability1.36511925
35MP0005395_other_phenotype1.35338571
36MP0005220_abnormal_exocrine_pancreas1.30287725
37MP0005408_hypopigmentation1.27437769
38MP0008260_abnormal_autophagy1.21458516
39MP0001663_abnormal_digestive_system1.19969635
40MP0000358_abnormal_cell_content/1.14845234
41MP0002080_prenatal_lethality1.14416740
42MP0000313_abnormal_cell_death1.11139889
43MP0003763_abnormal_thymus_physiology1.08713757
44MP0005075_abnormal_melanosome_morpholog1.07889168
45MP0001697_abnormal_embryo_size1.05325129
46MP0003718_maternal_effect1.04546167
47MP0002095_abnormal_skin_pigmentation1.03081290
48MP0008007_abnormal_cellular_replicative1.02904781
49MP0005671_abnormal_response_to1.01969068
50MP0002075_abnormal_coat/hair_pigmentati1.00938492
51MP0001324_abnormal_eye_pigmentation1.00021406
52MP0002090_abnormal_vision0.99791410
53MP0001661_extended_life_span0.98313717
54MP0005381_digestive/alimentary_phenotyp0.97166734
55MP0000372_irregular_coat_pigmentation0.96207202
56MP0003186_abnormal_redox_activity0.94458519
57MP0006035_abnormal_mitochondrial_morpho0.93852917
58MP0003959_abnormal_lean_body0.93031165
59MP0004233_abnormal_muscle_weight0.88786005
60MP0001186_pigmentation_phenotype0.88179928
61MP0002796_impaired_skin_barrier0.87998714
62MP0010234_abnormal_vibrissa_follicle0.87040964
63MP0002161_abnormal_fertility/fecundity0.86417425
64MP0008569_lethality_at_weaning0.85957499
65MP0004147_increased_porphyrin_level0.84244501
66MP0005670_abnormal_white_adipose0.81277046
67MP0009672_abnormal_birth_weight0.80935551
68MP0008877_abnormal_DNA_methylation0.79919245
69MP0003943_abnormal_hepatobiliary_system0.79333224
70MP0004197_abnormal_fetal_growth/weight/0.75791780
71MP0002877_abnormal_melanocyte_morpholog0.75636928
72MP0005384_cellular_phenotype0.75558092
73MP0002084_abnormal_developmental_patter0.75557502
74MP0004808_abnormal_hematopoietic_stem0.74707657
75MP0000689_abnormal_spleen_morphology0.73488189
76MP0001666_abnormal_nutrient_absorption0.70600891
77MP0002751_abnormal_autonomic_nervous0.69766527
78MP0001919_abnormal_reproductive_system0.69644329
79MP0005464_abnormal_platelet_physiology0.69491935
80MP0005621_abnormal_cell_physiology0.68736225
81MP0003221_abnormal_cardiomyocyte_apopto0.67670299
82MP0001270_distended_abdomen0.65734055
83MP0002398_abnormal_bone_marrow0.65458299
84MP0001542_abnormal_bone_strength0.64828892
85MP0000703_abnormal_thymus_morphology0.64159915
86MP0002429_abnormal_blood_cell0.63416372
87MP0000490_abnormal_crypts_of0.62529481
88MP0010030_abnormal_orbit_morphology0.61766500
89MP0000598_abnormal_liver_morphology0.61402381
90MP0003656_abnormal_erythrocyte_physiolo0.60162078
91MP0002396_abnormal_hematopoietic_system0.58961501
92MP0002086_abnormal_extraembryonic_tissu0.57883594
93MP0002229_neurodegeneration0.57704492
94MP0002085_abnormal_embryonic_tissue0.57399054
95MP0003868_abnormal_feces_composition0.57145067
96MP0005389_reproductive_system_phenotype0.56201068
97MP0002019_abnormal_tumor_incidence0.55626094
98MP0006036_abnormal_mitochondrial_physio0.54377462
99MP0000716_abnormal_immune_system0.53728661
100MP0001119_abnormal_female_reproductive0.53242846

Predicted human phenotypes

RankGene SetZ-score
1Increased neuronal autofluorescent lipopigment (HP:0002074)4.33222679
2Increased cerebral lipofuscin (HP:0011813)4.21502704
3Carpal bone hypoplasia (HP:0001498)4.12355956
4Vacuolated lymphocytes (HP:0001922)4.06442563
5Patchy hypopigmentation of hair (HP:0011365)3.75964885
6Abnormality of liposaccharide metabolism (HP:0010968)3.55772659
7Abnormality of glycosphingolipid metabolism (HP:0004343)3.55772659
8Abnormality of glycolipid metabolism (HP:0010969)3.55772659
9Albinism (HP:0001022)3.47783397
10Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.46441373
11Aplasia/Hypoplasia of the sacrum (HP:0008517)3.45578777
12Reticulocytopenia (HP:0001896)3.42157065
13Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.38993751
14Decreased circulating renin level (HP:0003351)3.26414088
15White forelock (HP:0002211)3.26019332
16Short middle phalanx of the 5th finger (HP:0004220)3.24652810
17Hyperactive renin-angiotensin system (HP:0000841)3.16914400
18Degeneration of the lateral corticospinal tracts (HP:0002314)3.12763613
19Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.12763613
20Vertebral compression fractures (HP:0002953)3.07993047
21Abnormal auditory evoked potentials (HP:0006958)3.01921872
22Large for gestational age (HP:0001520)3.00830186
23Hypoplasia of the uterus (HP:0000013)2.91395794
24Dysostosis multiplex (HP:0000943)2.90063243
25Basal cell carcinoma (HP:0002671)2.89982120
26Upper limb muscle weakness (HP:0003484)2.89296210
27Back pain (HP:0003418)2.85559402
28Cutaneous melanoma (HP:0012056)2.85230479
29Overlapping toe (HP:0001845)2.83067813
30Abnormal number of erythroid precursors (HP:0012131)2.82804027
31Abnormality of the distal phalanges of the toes (HP:0010182)2.72059365
32Ankyloglossia (HP:0010296)2.71235581
33Abnormality of cells of the erythroid lineage (HP:0012130)2.68720341
34Tetraparesis (HP:0002273)2.66557795
35Spastic paraparesis (HP:0002313)2.65526823
36Microretrognathia (HP:0000308)2.55331550
37Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.54136735
38Abnormal protein N-linked glycosylation (HP:0012347)2.54136735
39Abnormal protein glycosylation (HP:0012346)2.54136735
40Abnormal glycosylation (HP:0012345)2.54136735
41Abnormal tarsal ossification (HP:0008369)2.49239078
42Hypercortisolism (HP:0001578)2.46072928
43Exocrine pancreatic insufficiency (HP:0001738)2.41995016
44Small epiphyses (HP:0010585)2.41618584
45Long palpebral fissure (HP:0000637)2.40230471
46Squamous cell carcinoma (HP:0002860)2.39990748
47Chromosomal breakage induced by crosslinking agents (HP:0003221)2.39400296
48Abnormality of incisor morphology (HP:0011063)2.33234293
49Abnormality of the lumbar spine (HP:0100712)2.31535819
50Urethral obstruction (HP:0000796)2.30527323
51Abnormality of the corticospinal tract (HP:0002492)2.28003929
52Acute hepatic failure (HP:0006554)2.26613227
53Spinal cord lesions (HP:0100561)2.24749819
54Syringomyelia (HP:0003396)2.24749819
55Abnormality of oral frenula (HP:0000190)2.23658107
56Dry hair (HP:0011359)2.21099609
57Nonimmune hydrops fetalis (HP:0001790)2.20044744
58Abnormality of the thoracic spine (HP:0100711)2.19492760
59Deep palmar crease (HP:0006191)2.17349234
60Thoracolumbar scoliosis (HP:0002944)2.16762826
61Gonadal dysgenesis (HP:0000133)2.15931400
62Hyperglycinuria (HP:0003108)2.10835721
63Cortical dysplasia (HP:0002539)2.10776395
64Type I transferrin isoform profile (HP:0003642)2.10372673
65Aplasia/hypoplasia of the uterus (HP:0008684)2.10262289
66Global brain atrophy (HP:0002283)2.09593060
67Hyperlipoproteinemia (HP:0010980)2.09509781
68Ridged nail (HP:0001807)2.08663485
69Hypokinesia (HP:0002375)2.08657795
70CNS hypomyelination (HP:0003429)2.08605676
71Reduced antithrombin III activity (HP:0001976)2.07291824
72Onycholysis (HP:0001806)2.07245879
73Hyperkalemia (HP:0002153)2.05539572
74Hyponatremia (HP:0002902)2.04978145
75Chromsome breakage (HP:0040012)2.04852785
76Thoracic kyphosis (HP:0002942)2.04505954
77Aplasia/Hypoplasia of the uvula (HP:0010293)2.00905650
78Chronic bronchitis (HP:0004469)1.96137469
79Hypokalemic alkalosis (HP:0001949)1.95373275
80Macrocytic anemia (HP:0001972)1.93955061
81Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.93513106
82Decreased activity of mitochondrial respiratory chain (HP:0008972)1.93513106
83Lower limb hyperreflexia (HP:0002395)1.91931660
84Unilateral renal agenesis (HP:0000122)1.91238766
85Deformed sella turcica (HP:0002681)1.90250479
86Chronic mucocutaneous candidiasis (HP:0002728)1.87364435
87Recurrent cutaneous fungal infections (HP:0011370)1.87364435
88Aplasia/Hypoplasia involving the musculature (HP:0001460)1.86236234
89Pallor (HP:0000980)1.85577037
90Erythema (HP:0010783)1.85439567
91Hypopigmentation of the fundus (HP:0007894)1.84715605
92Death in infancy (HP:0001522)1.83838005
93Hydroureter (HP:0000072)1.83101518
94Shoulder girdle muscle weakness (HP:0003547)1.80989514
95Abnormal foot bone ossification (HP:0010675)1.79437734
96Death in childhood (HP:0003819)1.78494791
97Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.78377875
98Exercise-induced myalgia (HP:0003738)1.78117522
99Abnormal delayed hypersensitivity skin test (HP:0002963)1.77745534
100Adrenal overactivity (HP:0002717)1.77445636

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRPF4B5.89549656
2EIF2AK34.27182606
3CDK194.24058549
4KSR23.56138897
5TAF13.20963942
6ARAF3.06828846
7ACVR1B2.91408816
8TAOK22.90721668
9BRAF2.80489972
10MAP3K92.66162688
11CDC72.62804725
12SCYL22.53629363
13ERN12.48798719
14NME22.28878863
15IRAK32.17418412
16STK162.10228454
17ITK1.97594195
18RAF11.79687217
19MAP3K131.77418235
20TTK1.71155445
21KSR11.61028984
22CDK31.46262895
23TESK21.41768921
24CDK81.32549347
25EEF2K1.29343010
26MAP3K21.25365381
27MAP3K81.22263273
28MAPK71.21594591
29BRSK11.21472315
30PBK1.21402166
31WEE11.14769267
32MAP3K11.07340885
33ICK1.00214159
34MOS0.94877806
35PLK40.94039543
36BUB10.92501458
37CDK70.87821266
38RPS6KB10.82736146
39MAP3K100.79804199
40PNCK0.78005482
41IRAK40.77271289
42AKT20.74952917
43MARK30.74184501
44BMPR1B0.72444289
45CHEK10.70056548
46IRAK20.69532375
47STK100.68423993
48PLK10.65640630
49JAK20.64003510
50LRRK20.63531955
51AURKA0.62347172
52CDK120.61906200
53RPS6KB20.59851472
54PAK20.56399903
55NME10.56009821
56CDK11A0.55827919
57ATR0.53218488
58SRPK10.52484383
59PIM10.51672465
60STK240.50282293
61MAPK120.47803763
62CDK140.47428638
63MAP3K140.46749971
64AKT30.45645005
65MUSK0.45044427
66MARK20.43405131
67GRK60.42161614
68CHEK20.39188497
69MATK0.39119634
70RPS6KC10.38903414
71RPS6KL10.38903414
72AURKB0.37298012
73PDPK10.36186151
74PRKCI0.35193282
75PAK10.35049246
76DYRK1B0.33558139
77CDK20.33045271
78CDK150.32685113
79NTRK30.32317446
80ATM0.32292619
81ALK0.32102534
82RPS6KA60.31232028
83CSF1R0.30927215
84MAP2K20.30065853
85CDK90.28896409
86PDK10.27983521
87CDK10.27947987
88CDK180.27502157
89TBK10.26826074
90TSSK60.26250706
91NEK90.25752206
92TRIM280.25740114
93CSNK2A20.25383458
94RPS6KA10.24393615
95MAP2K10.24236051
96NEK60.23136026
97SIK10.22715626
98PLK30.22533590
99STK390.20164343
100IRAK10.20095256

Predicted pathways (KEGG)

RankGene SetZ-score
1N-Glycan biosynthesis_Homo sapiens_hsa005104.74875498
2DNA replication_Homo sapiens_hsa030303.57368641
3Ribosome_Homo sapiens_hsa030103.56346862
4Other types of O-glycan biosynthesis_Homo sapiens_hsa005143.11419425
5Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.94075728
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.65300010
7Mismatch repair_Homo sapiens_hsa034302.57812401
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.43851096
9Dorso-ventral axis formation_Homo sapiens_hsa043202.38989786
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.35899966
11Glycosaminoglycan degradation_Homo sapiens_hsa005312.21863101
12Base excision repair_Homo sapiens_hsa034102.19665253
13One carbon pool by folate_Homo sapiens_hsa006701.99389261
14RNA transport_Homo sapiens_hsa030131.97290518
15mRNA surveillance pathway_Homo sapiens_hsa030151.87784287
16Proteasome_Homo sapiens_hsa030501.82062469
17Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.79647616
18Protein export_Homo sapiens_hsa030601.79631624
19Non-homologous end-joining_Homo sapiens_hsa034501.76346848
20Cell cycle_Homo sapiens_hsa041101.72429960
21Bladder cancer_Homo sapiens_hsa052191.69297964
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.61143231
23Acute myeloid leukemia_Homo sapiens_hsa052211.58516336
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.52548553
25Vibrio cholerae infection_Homo sapiens_hsa051101.43272004
26Lysosome_Homo sapiens_hsa041421.36091218
27Basal transcription factors_Homo sapiens_hsa030221.32373763
28Collecting duct acid secretion_Homo sapiens_hsa049661.31971846
29Nucleotide excision repair_Homo sapiens_hsa034201.30214172
30Fatty acid elongation_Homo sapiens_hsa000621.29815364
31Pyrimidine metabolism_Homo sapiens_hsa002401.24291264
32Non-small cell lung cancer_Homo sapiens_hsa052231.22747440
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18936101
34Folate biosynthesis_Homo sapiens_hsa007901.17565969
35Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.14872566
36Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.13145474
37Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.09685566
38Chronic myeloid leukemia_Homo sapiens_hsa052201.06980528
39Vitamin B6 metabolism_Homo sapiens_hsa007501.02640996
40Prion diseases_Homo sapiens_hsa050200.95573529
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.94848313
42SNARE interactions in vesicular transport_Homo sapiens_hsa041300.93123453
43RNA polymerase_Homo sapiens_hsa030200.90111205
44Sulfur metabolism_Homo sapiens_hsa009200.88236782
45Spliceosome_Homo sapiens_hsa030400.85842731
46RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.85366949
47Pancreatic cancer_Homo sapiens_hsa052120.84765124
48Prostate cancer_Homo sapiens_hsa052150.83687676
49Endometrial cancer_Homo sapiens_hsa052130.83055126
50Other glycan degradation_Homo sapiens_hsa005110.82449135
51Fanconi anemia pathway_Homo sapiens_hsa034600.79246974
52Synaptic vesicle cycle_Homo sapiens_hsa047210.78454810
53Thyroid cancer_Homo sapiens_hsa052160.76753288
54Oocyte meiosis_Homo sapiens_hsa041140.73870584
55T cell receptor signaling pathway_Homo sapiens_hsa046600.71990683
56Melanoma_Homo sapiens_hsa052180.71689892
57Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71234072
58Glioma_Homo sapiens_hsa052140.69694728
59Homologous recombination_Homo sapiens_hsa034400.68986070
60Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.68609431
61Sulfur relay system_Homo sapiens_hsa041220.68465995
62Oxidative phosphorylation_Homo sapiens_hsa001900.65454940
63Hepatitis B_Homo sapiens_hsa051610.64995484
64RNA degradation_Homo sapiens_hsa030180.62975314
65Rheumatoid arthritis_Homo sapiens_hsa053230.62519633
66Purine metabolism_Homo sapiens_hsa002300.60786494
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.50360331
68Measles_Homo sapiens_hsa051620.50350511
69HTLV-I infection_Homo sapiens_hsa051660.48442087
70FoxO signaling pathway_Homo sapiens_hsa040680.46634526
71Parkinsons disease_Homo sapiens_hsa050120.45456576
72Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44955487
73Renal cell carcinoma_Homo sapiens_hsa052110.44848584
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.42432969
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42367087
76Central carbon metabolism in cancer_Homo sapiens_hsa052300.42180446
77Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.41065908
78Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39225994
79mTOR signaling pathway_Homo sapiens_hsa041500.37846793
80Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.37786887
81B cell receptor signaling pathway_Homo sapiens_hsa046620.37303987
82Jak-STAT signaling pathway_Homo sapiens_hsa046300.36329045
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35493325
84Colorectal cancer_Homo sapiens_hsa052100.34597899
85Herpes simplex infection_Homo sapiens_hsa051680.34518653
86Selenocompound metabolism_Homo sapiens_hsa004500.33603500
87Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.33195526
88Insulin signaling pathway_Homo sapiens_hsa049100.32797125
89Metabolic pathways_Homo sapiens_hsa011000.31308527
90Hepatitis C_Homo sapiens_hsa051600.31132323
91Influenza A_Homo sapiens_hsa051640.30916495
92ErbB signaling pathway_Homo sapiens_hsa040120.30337552
93Epstein-Barr virus infection_Homo sapiens_hsa051690.29208620
94Steroid biosynthesis_Homo sapiens_hsa001000.28964672
95Viral carcinogenesis_Homo sapiens_hsa052030.27851363
96Sphingolipid metabolism_Homo sapiens_hsa006000.26393646
97Apoptosis_Homo sapiens_hsa042100.25445001
98p53 signaling pathway_Homo sapiens_hsa041150.24656640
99Carbon metabolism_Homo sapiens_hsa012000.24454326
100Huntingtons disease_Homo sapiens_hsa050160.22159444

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