SBDSP1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)6.15896541
2ribosome assembly (GO:0042255)6.02250244
3ribosomal large subunit biogenesis (GO:0042273)4.71422089
4negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.48191378
5cullin deneddylation (GO:0010388)4.48150811
6positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.47371448
7mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.41519144
8DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.26845860
9regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.24765393
10signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.15904398
11signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.15904398
12signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.15904398
13intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)4.14694724
14signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)4.14694724
15negative regulation of ligase activity (GO:0051352)4.13145245
16negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.13145245
17protein deneddylation (GO:0000338)4.12540182
18anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.05210191
19regulation of cellular amino acid metabolic process (GO:0006521)4.03619570
20signal transduction involved in DNA damage checkpoint (GO:0072422)4.01327788
21signal transduction involved in DNA integrity checkpoint (GO:0072401)4.01327788
22positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.99708017
23signal transduction involved in cell cycle checkpoint (GO:0072395)3.92819885
24positive regulation of ligase activity (GO:0051351)3.84220637
25organelle disassembly (GO:1903008)3.77207714
26DNA deamination (GO:0045006)3.68666013
27nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.67888376
28L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.64149431
297-methylguanosine mRNA capping (GO:0006370)3.60685083
30ATP synthesis coupled proton transport (GO:0015986)3.58036293
31energy coupled proton transport, down electrochemical gradient (GO:0015985)3.58036293
32protein complex biogenesis (GO:0070271)3.56500633
33RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.54718941
34mitochondrial respiratory chain complex assembly (GO:0033108)3.51917883
35mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.51646212
367-methylguanosine RNA capping (GO:0009452)3.50824486
37RNA capping (GO:0036260)3.50824486
38exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.48648112
39ribonucleoprotein complex disassembly (GO:0032988)3.47983811
40regulation of mitochondrial translation (GO:0070129)3.46540010
41regulation of ubiquitin-protein transferase activity (GO:0051438)3.45999075
42tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.43549554
43RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.43549554
44peptidyl-histidine modification (GO:0018202)3.41698456
45inner mitochondrial membrane organization (GO:0007007)3.40849963
46regulation of ligase activity (GO:0051340)3.35337328
47establishment of protein localization to mitochondrial membrane (GO:0090151)3.31622582
48termination of RNA polymerase III transcription (GO:0006386)3.31239237
49transcription elongation from RNA polymerase III promoter (GO:0006385)3.31239237
50protein K11-linked ubiquitination (GO:0070979)3.30981869
51spliceosomal snRNP assembly (GO:0000387)3.30970796
52amino acid salvage (GO:0043102)3.28301500
53L-methionine salvage (GO:0071267)3.28301500
54L-methionine biosynthetic process (GO:0071265)3.28301500
55regulation of mitotic spindle organization (GO:0060236)3.27183411
56DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.25632910
57maturation of 5.8S rRNA (GO:0000460)3.25045552
58mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.23365266
59mitochondrial respiratory chain complex I assembly (GO:0032981)3.23365266
60NADH dehydrogenase complex assembly (GO:0010257)3.23365266
61rRNA modification (GO:0000154)3.20568358
62negative regulation of protein ubiquitination (GO:0031397)3.18405615
63positive regulation of cell cycle arrest (GO:0071158)3.17291767
64termination of RNA polymerase I transcription (GO:0006363)3.17004880
65protein-cofactor linkage (GO:0018065)3.16719482
66respiratory electron transport chain (GO:0022904)3.12982282
67transcription elongation from RNA polymerase I promoter (GO:0006362)3.12372074
68mitochondrial RNA metabolic process (GO:0000959)3.12330889
69electron transport chain (GO:0022900)3.11682452
70mannosylation (GO:0097502)3.08082324
71respiratory chain complex IV assembly (GO:0008535)3.07001754
72tRNA processing (GO:0008033)3.00161068
73preassembly of GPI anchor in ER membrane (GO:0016254)2.97994827
74regulation of spindle organization (GO:0090224)2.94200322
75antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.93971433
76negative regulation of protein modification by small protein conjugation or removal (GO:1903321)2.92969382
77rRNA processing (GO:0006364)2.90491948
78transcription from RNA polymerase I promoter (GO:0006360)2.84652707
79transcription initiation from RNA polymerase I promoter (GO:0006361)2.84269426
80pseudouridine synthesis (GO:0001522)2.83245344
81rRNA metabolic process (GO:0016072)2.83010293
82DNA double-strand break processing (GO:0000729)2.80502905
83protein targeting to mitochondrion (GO:0006626)2.80129077
84regulation of cell cycle arrest (GO:0071156)2.79228340
85negative regulation of cell cycle G1/S phase transition (GO:1902807)2.79131215
86negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)2.79131215
87positive regulation of protein ubiquitination (GO:0031398)2.77600965
88cytochrome complex assembly (GO:0017004)2.75453382
89tRNA metabolic process (GO:0006399)2.75191252
90rRNA methylation (GO:0031167)2.74979257
91protein K6-linked ubiquitination (GO:0085020)2.74848309
92intracellular protein transmembrane import (GO:0044743)2.73237898
93platelet dense granule organization (GO:0060155)2.72941668
94protein localization to mitochondrion (GO:0070585)2.72455066
95ubiquinone biosynthetic process (GO:0006744)2.72115815
96metallo-sulfur cluster assembly (GO:0031163)2.70595886
97iron-sulfur cluster assembly (GO:0016226)2.70595886
98regulation of cellular amine metabolic process (GO:0033238)2.70407640
99transcription-coupled nucleotide-excision repair (GO:0006283)2.69902626
100methionine biosynthetic process (GO:0009086)2.69572495

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human5.10002829
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.94033163
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.17137546
4ELK1_19687146_ChIP-ChIP_HELA_Human3.60094764
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.47672204
6* VDR_23849224_ChIP-Seq_CD4+_Human3.33762897
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.14614668
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.14105797
9* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.13656054
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.04898672
11ELF1_17652178_ChIP-ChIP_JURKAT_Human2.91543073
12PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.70074676
13ZNF274_21170338_ChIP-Seq_K562_Hela2.58099703
14NOTCH1_21737748_ChIP-Seq_TLL_Human2.52313962
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.50483170
16FOXP3_21729870_ChIP-Seq_TREG_Human2.50205886
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.49918365
18SRF_21415370_ChIP-Seq_HL-1_Mouse2.43523281
19MYC_18555785_ChIP-Seq_MESCs_Mouse2.38411049
20DCP1A_22483619_ChIP-Seq_HELA_Human2.34379933
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.21247637
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.18948000
23PADI4_21655091_ChIP-ChIP_MCF-7_Human2.18451819
24FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.10319376
25FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.89183660
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.85729382
27GABP_19822575_ChIP-Seq_HepG2_Human1.83679549
28ELK1_22589737_ChIP-Seq_MCF10A_Human1.83392799
29PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.79556899
30MYC_19030024_ChIP-ChIP_MESCs_Mouse1.79086717
31MYC_18358816_ChIP-ChIP_MESCs_Mouse1.78501212
32HOXB4_20404135_ChIP-ChIP_EML_Mouse1.77213927
33SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.75188806
34NELFA_20434984_ChIP-Seq_ESCs_Mouse1.73709473
35MYC_18940864_ChIP-ChIP_HL60_Human1.61294911
36TTF2_22483619_ChIP-Seq_HELA_Human1.60125696
37E2F1_18555785_ChIP-Seq_MESCs_Mouse1.59207523
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.57793723
39FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.50106436
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.49729456
41VDR_22108803_ChIP-Seq_LS180_Human1.46612290
42EWS_26573619_Chip-Seq_HEK293_Human1.46075315
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.44756024
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.36594862
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35943394
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35883697
47FUS_26573619_Chip-Seq_HEK293_Human1.35406945
48XRN2_22483619_ChIP-Seq_HELA_Human1.34191682
49E2F7_22180533_ChIP-Seq_HELA_Human1.33605960
50HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.30823739
51MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.29738439
52* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.28904466
53HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.28185902
54YY1_21170310_ChIP-Seq_MESCs_Mouse1.27222728
55SMAD_19615063_ChIP-ChIP_OVARY_Human1.26406522
56MYC_19079543_ChIP-ChIP_MESCs_Mouse1.23353827
57TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23005985
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22742462
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.19590450
60ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18520192
61CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.17981864
62TP53_22573176_ChIP-Seq_HFKS_Human1.17914380
63MYCN_18555785_ChIP-Seq_MESCs_Mouse1.16501848
64EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.11166563
65IGF1R_20145208_ChIP-Seq_DFB_Human1.10522125
66SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.09392035
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.07697614
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04665820
69KDM5A_27292631_Chip-Seq_BREAST_Human1.02124464
70GATA3_26560356_Chip-Seq_TH2_Human0.99907431
71CIITA_25753668_ChIP-Seq_RAJI_Human0.99318925
72MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.98038417
73KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.95950054
74SALL4_22934838_ChIP-ChIP_CD34+_Human0.94124350
75SUZ12_27294783_Chip-Seq_NPCs_Mouse0.93694536
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.92864662
77ER_23166858_ChIP-Seq_MCF-7_Human0.92573296
78ELF5_23300383_ChIP-Seq_T47D_Human0.92375875
79P300_19829295_ChIP-Seq_ESCs_Human0.90418369
80NFE2_27457419_Chip-Seq_LIVER_Mouse0.89822368
81POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.88800463
82POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.88312613
83MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.88275261
84FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87480778
85BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.86162180
86TFEB_21752829_ChIP-Seq_HELA_Human0.85561734
87IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.85267612
88FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.84552543
89TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.84313978
90CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.83545457
91HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.82938489
92AR_20517297_ChIP-Seq_VCAP_Human0.82892181
93CRX_20693478_ChIP-Seq_RETINA_Mouse0.82210243
94BRD4_25478319_ChIP-Seq_HGPS_Human0.81970567
95PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.80840247
96RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.78097554
97ERG_20887958_ChIP-Seq_HPC-7_Mouse0.77935446
98BCAT_22108803_ChIP-Seq_LS180_Human0.77641554
99CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.77638380
100* PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.77376174

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane4.15526952
2MP0008058_abnormal_DNA_repair3.60059485
3MP0003786_premature_aging3.17236460
4MP0002102_abnormal_ear_morphology2.98611189
5MP0006072_abnormal_retinal_apoptosis2.92746161
6MP0000372_irregular_coat_pigmentation2.87963006
7MP0003806_abnormal_nucleotide_metabolis2.42470346
8MP0003693_abnormal_embryo_hatching2.39238807
9MP0008007_abnormal_cellular_replicative2.32452302
10MP0003011_delayed_dark_adaptation2.25384934
11MP0003186_abnormal_redox_activity2.13471661
12MP0010094_abnormal_chromosome_stability2.09960578
13MP0000569_abnormal_digit_pigmentation2.08742470
14MP0000013_abnormal_adipose_tissue2.06531709
15MP0008057_abnormal_DNA_replication1.93604715
16MP0008995_early_reproductive_senescence1.89809631
17MP0009697_abnormal_copulation1.88889708
18MP0008877_abnormal_DNA_methylation1.86263061
19MP0001529_abnormal_vocalization1.82690390
20MP0003077_abnormal_cell_cycle1.79984070
21MP0006036_abnormal_mitochondrial_physio1.75183665
22MP0005075_abnormal_melanosome_morpholog1.70324095
23MP0005084_abnormal_gallbladder_morpholo1.64888415
24MP0006035_abnormal_mitochondrial_morpho1.56956832
25MP0001542_abnormal_bone_strength1.51497557
26MP0009780_abnormal_chondrocyte_physiolo1.48858170
27MP0005253_abnormal_eye_physiology1.43629993
28MP0002736_abnormal_nociception_after1.43344999
29MP0003763_abnormal_thymus_physiology1.40847756
30MP0010386_abnormal_urinary_bladder1.38127985
31MP0004957_abnormal_blastocyst_morpholog1.37157877
32MP0002282_abnormal_trachea_morphology1.35089284
33MP0000749_muscle_degeneration1.32746401
34MP0001986_abnormal_taste_sensitivity1.32736897
35MP0008932_abnormal_embryonic_tissue1.31025309
36MP0001243_abnormal_dermal_layer1.31018815
37MP0005360_urolithiasis1.28047379
38MP0003656_abnormal_erythrocyte_physiolo1.27048617
39MP0004147_increased_porphyrin_level1.26385474
40MP0005187_abnormal_penis_morphology1.25375105
41MP0000358_abnormal_cell_content/1.25235620
42MP0005551_abnormal_eye_electrophysiolog1.24235742
43MP0002095_abnormal_skin_pigmentation1.22717670
44MP0001502_abnormal_circadian_rhythm1.20862280
45MP0001929_abnormal_gametogenesis1.17979196
46MP0003718_maternal_effect1.16578557
47MP0001853_heart_inflammation1.12352993
48MP0001764_abnormal_homeostasis1.12329260
49MP0005266_abnormal_metabolism1.12247574
50MP0004215_abnormal_myocardial_fiber1.11281785
51MP0003111_abnormal_nucleus_morphology1.10732250
52MP0001879_abnormal_lymphatic_vessel1.10416376
53MP0003252_abnormal_bile_duct1.10267231
54MP0000647_abnormal_sebaceous_gland1.06812584
55MP0004142_abnormal_muscle_tone1.06648490
56MP0005410_abnormal_fertilization1.06123578
57MP0002638_abnormal_pupillary_reflex1.02991227
58MP0005389_reproductive_system_phenotype1.00649915
59MP0006054_spinal_hemorrhage0.99980629
60MP0002210_abnormal_sex_determination0.97643810
61MP0006276_abnormal_autonomic_nervous0.97613208
62MP0003959_abnormal_lean_body0.96468324
63MP0002234_abnormal_pharynx_morphology0.92439329
64MP0008438_abnormal_cutaneous_collagen0.91324899
65MP0000653_abnormal_sex_gland0.90730675
66MP0005171_absent_coat_pigmentation0.89870781
67MP0000015_abnormal_ear_pigmentation0.89248671
68MP0002295_abnormal_pulmonary_circulatio0.88816637
69MP0001984_abnormal_olfaction0.84120012
70MP0009384_cardiac_valve_regurgitation0.83800156
71MP0000538_abnormal_urinary_bladder0.82415153
72MP0002938_white_spotting0.82068168
73MP0001919_abnormal_reproductive_system0.81041049
74MP0000427_abnormal_hair_cycle0.80610144
75MP0005646_abnormal_pituitary_gland0.79523461
76MP0001119_abnormal_female_reproductive0.79426422
77MP0002332_abnormal_exercise_endurance0.77068639
78MP0005623_abnormal_meninges_morphology0.75604050
79MP0001905_abnormal_dopamine_level0.75125203
80MP0005645_abnormal_hypothalamus_physiol0.74823508
81MP0002163_abnormal_gland_morphology0.74289861
82MP0000613_abnormal_salivary_gland0.73669900
83MP0005379_endocrine/exocrine_gland_phen0.73128828
84MP0008961_abnormal_basal_metabolism0.71900576
85MP0005376_homeostasis/metabolism_phenot0.71831122
86MP0003279_aneurysm0.71775764
87MP0001145_abnormal_male_reproductive0.70666017
88MP0008872_abnormal_physiological_respon0.70154969
89MP0002837_dystrophic_cardiac_calcinosis0.69968133
90MP0003137_abnormal_impulse_conducting0.69355143
91MP0010368_abnormal_lymphatic_system0.68744807
92MP0000689_abnormal_spleen_morphology0.66455437
93MP0005164_abnormal_response_to0.66142154
94MP0000383_abnormal_hair_follicle0.65599264
95MP0002751_abnormal_autonomic_nervous0.64876184
96MP0000350_abnormal_cell_proliferation0.64807232
97MP0001727_abnormal_embryo_implantation0.64766793
98MP0001968_abnormal_touch/_nociception0.64015549
99MP0004883_abnormal_blood_vessel0.62785343
100MP0004134_abnormal_chest_morphology0.62280532

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.14627778
2Mitochondrial inheritance (HP:0001427)3.94248457
3Metaphyseal dysplasia (HP:0100255)3.87071295
4Hepatic necrosis (HP:0002605)3.85342273
5Increased CSF lactate (HP:0002490)3.84395125
6Abnormal mitochondria in muscle tissue (HP:0008316)3.78349473
7Hepatocellular necrosis (HP:0001404)3.71084969
8Acute encephalopathy (HP:0006846)3.62773336
9Progressive macrocephaly (HP:0004481)3.62407728
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.47312754
11Decreased activity of mitochondrial respiratory chain (HP:0008972)3.47312754
12Neonatal respiratory distress (HP:0002643)3.38884113
13Increased hepatocellular lipid droplets (HP:0006565)3.37271470
14Congenital, generalized hypertrichosis (HP:0004540)3.25737065
15Renal cortical cysts (HP:0000803)3.19638548
163-Methylglutaconic aciduria (HP:0003535)3.13682570
17Type I transferrin isoform profile (HP:0003642)3.12507880
18Lipid accumulation in hepatocytes (HP:0006561)3.01161478
19Increased serum lactate (HP:0002151)2.98177631
20Dyschromatopsia (HP:0007641)2.91254375
21Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.88147124
22Abnormal protein N-linked glycosylation (HP:0012347)2.88147124
23Abnormal protein glycosylation (HP:0012346)2.88147124
24Abnormal glycosylation (HP:0012345)2.88147124
25Fibular aplasia (HP:0002990)2.85904971
26Type 2 muscle fiber atrophy (HP:0003554)2.84556055
27Increased intramyocellular lipid droplets (HP:0012240)2.70851680
28Pancreatic cysts (HP:0001737)2.70644090
29Generalized aminoaciduria (HP:0002909)2.66982163
30Cerebral edema (HP:0002181)2.63732607
31Lactic acidosis (HP:0003128)2.59931163
32Short tibia (HP:0005736)2.48554756
33Abnormality of alanine metabolism (HP:0010916)2.48364320
34Hyperalaninemia (HP:0003348)2.48364320
35Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.48364320
36Muscle fiber atrophy (HP:0100295)2.46806623
37Oral leukoplakia (HP:0002745)2.40064356
38Large for gestational age (HP:0001520)2.39728447
39Pancytopenia (HP:0001876)2.37057772
40Renal Fanconi syndrome (HP:0001994)2.34136772
41Abnormality of midbrain morphology (HP:0002418)2.34059121
42Molar tooth sign on MRI (HP:0002419)2.34059121
43Aplasia/hypoplasia of the uterus (HP:0008684)2.33437846
44IgG deficiency (HP:0004315)2.30891204
45Abnormality of the renal cortex (HP:0011035)2.30245735
46Reduced antithrombin III activity (HP:0001976)2.26319534
47Optic disc pallor (HP:0000543)2.24812508
48Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.24588110
49Palpitations (HP:0001962)2.22192138
50Methylmalonic acidemia (HP:0002912)2.20004010
51Pancreatic fibrosis (HP:0100732)2.18976812
52Medial flaring of the eyebrow (HP:0010747)2.15284698
53Abnormality of the costochondral junction (HP:0000919)2.14485879
54Abnormality of the anterior horn cell (HP:0006802)2.14024213
55Degeneration of anterior horn cells (HP:0002398)2.14024213
56Concave nail (HP:0001598)2.11994534
57Hypoproteinemia (HP:0003075)2.09839916
58Increased muscle lipid content (HP:0009058)2.08709950
59Posterior subcapsular cataract (HP:0007787)2.08196945
60Sensory axonal neuropathy (HP:0003390)2.07948034
61Hypothermia (HP:0002045)2.06139723
62Severe combined immunodeficiency (HP:0004430)2.06032992
63Aplastic anemia (HP:0001915)2.05703200
64Abnormal number of erythroid precursors (HP:0012131)2.05678653
65Exertional dyspnea (HP:0002875)2.05656520
66Aplasia/Hypoplasia of the tibia (HP:0005772)2.04969668
67Exercise intolerance (HP:0003546)2.03647244
68Respiratory failure (HP:0002878)2.02213385
69Delayed gross motor development (HP:0002194)2.00254595
70Abnormality of macular pigmentation (HP:0008002)1.99533079
71Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.99464385
72Abnormality of placental membranes (HP:0011409)1.98785522
73Amniotic constriction ring (HP:0009775)1.98785522
74Testicular atrophy (HP:0000029)1.97242605
75True hermaphroditism (HP:0010459)1.96886665
76Sparse eyelashes (HP:0000653)1.96326086
77Tongue fasciculations (HP:0001308)1.94160180
78Nemaline bodies (HP:0003798)1.93949098
79Abnormality of the pons (HP:0007361)1.92994141
80Type I diabetes mellitus (HP:0100651)1.88765052
81Steatorrhea (HP:0002570)1.86666787
82Nephronophthisis (HP:0000090)1.86626122
83CNS demyelination (HP:0007305)1.85228653
84Abnormal hemoglobin (HP:0011902)1.85021633
85Lethargy (HP:0001254)1.83393175
86Neutropenia (HP:0001875)1.83206735
87Facial diplegia (HP:0001349)1.82470057
88Delayed CNS myelination (HP:0002188)1.81352910
89Leukodystrophy (HP:0002415)1.79996756
90Methylmalonic aciduria (HP:0012120)1.79539009
91Hypoglycemic coma (HP:0001325)1.78463770
92Decreased electroretinogram (ERG) amplitude (HP:0000654)1.77199531
93Congenital primary aphakia (HP:0007707)1.75182922
94Poor suck (HP:0002033)1.75114560
95Median cleft lip (HP:0000161)1.75004593
96Cerebral hypomyelination (HP:0006808)1.74969554
97Dry hair (HP:0011359)1.74042504
98Macrocytic anemia (HP:0001972)1.72968734
99Constricted visual fields (HP:0001133)1.72179616
100Thyroiditis (HP:0100646)1.72074580

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK33.85304346
2TAOK33.11627463
3EIF2AK12.94490678
4BUB12.91395422
5MAP3K122.85076843
6VRK22.71965888
7MAP4K22.67324056
8SRPK12.44209771
9MST42.39564308
10BMPR1B2.38911216
11TXK2.36265397
12ZAK2.28894307
13VRK12.23573534
14TSSK62.11016684
15CDK82.09153395
16TRIM282.00308565
17STK161.76947736
18ERBB31.76394051
19NUAK11.76310129
20LIMK11.61475650
21SIK31.58684389
22PLK31.48756041
23MUSK1.47456649
24MYLK1.46249327
25GRK71.43503424
26BMPR21.41350518
27BRSK21.33512771
28PBK1.33491322
29SCYL21.30564520
30PDK21.28547901
31NEK11.28131626
32CCNB11.26520265
33PLK21.20247632
34MAPKAPK31.19482392
35WEE11.16325577
36EIF2AK21.12757345
37PNCK1.07862972
38CDC71.05200024
39ADRBK20.99469117
40INSRR0.98786878
41CSNK1G30.98764883
42FRK0.92823637
43TEC0.91702749
44CSNK1A1L0.91503677
45WNK30.91294333
46PASK0.90955464
47GRK10.87660539
48BCR0.87540328
49CSNK1G10.83746605
50STK390.83133465
51PIK3CG0.79739725
52ABL20.77812842
53PLK10.77363563
54TLK10.70695565
55PLK40.67632483
56CSNK1G20.66963305
57CLK10.65690866
58RPS6KA40.65265967
59IKBKB0.64414002
60PIM20.64143598
61TGFBR10.63998399
62BRSK10.60669859
63ILK0.60441922
64RPS6KA50.59857260
65TESK10.58167862
66ADRBK10.57571401
67BCKDK0.57408274
68ERBB40.56113421
69STK38L0.55402105
70AURKB0.52874146
71MKNK20.52132088
72ACVR1B0.51101113
73NEK60.50816167
74TRPM70.49958616
75PRKCE0.49690212
76ATR0.49201717
77TAF10.49130560
78CSNK2A10.48009933
79NME20.47143929
80PIM10.45117960
81TTK0.44469610
82PRKCI0.44274642
83CDK90.43721521
84CAMKK20.43332629
85GRK50.42833828
86CHEK20.42733646
87ABL10.41003799
88NME10.40737667
89PAK20.39340113
90IRAK30.38266854
91CSNK2A20.38078741
92PINK10.37094587
93IGF1R0.36423187
94ITK0.35291457
95MAPK130.35267845
96ATM0.34994037
97FLT30.32745675
98IKBKE0.32468761
99STK100.31683340
100PAK30.31440887

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.37038033
2Protein export_Homo sapiens_hsa030603.70549743
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.52905358
4Oxidative phosphorylation_Homo sapiens_hsa001903.29440223
5RNA polymerase_Homo sapiens_hsa030203.21806468
6Parkinsons disease_Homo sapiens_hsa050122.69534158
7Basal transcription factors_Homo sapiens_hsa030222.68310826
8Ribosome_Homo sapiens_hsa030102.30371970
9Spliceosome_Homo sapiens_hsa030402.16534904
10RNA degradation_Homo sapiens_hsa030182.05313928
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.01636472
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.98951643
13Mismatch repair_Homo sapiens_hsa034301.97439018
14Nucleotide excision repair_Homo sapiens_hsa034201.92910558
15RNA transport_Homo sapiens_hsa030131.86245235
16Pyrimidine metabolism_Homo sapiens_hsa002401.86093342
17Huntingtons disease_Homo sapiens_hsa050161.82462662
18Non-homologous end-joining_Homo sapiens_hsa034501.77114720
19Homologous recombination_Homo sapiens_hsa034401.76252314
20One carbon pool by folate_Homo sapiens_hsa006701.73134927
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.70717859
22Alzheimers disease_Homo sapiens_hsa050101.65552571
23Fanconi anemia pathway_Homo sapiens_hsa034601.64482828
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.63732864
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.62237972
26Nitrogen metabolism_Homo sapiens_hsa009101.56299697
27DNA replication_Homo sapiens_hsa030301.51868318
28Selenocompound metabolism_Homo sapiens_hsa004501.50754545
29Circadian rhythm_Homo sapiens_hsa047101.40036106
30Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.37058607
31Regulation of autophagy_Homo sapiens_hsa041401.36476491
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33688463
33Fatty acid elongation_Homo sapiens_hsa000621.32421875
34Base excision repair_Homo sapiens_hsa034101.28689988
35Purine metabolism_Homo sapiens_hsa002301.28583602
36Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27433983
37Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.26659643
38Primary immunodeficiency_Homo sapiens_hsa053401.22864254
39SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21610689
40Sulfur metabolism_Homo sapiens_hsa009201.21351227
41Propanoate metabolism_Homo sapiens_hsa006401.21069582
42Folate biosynthesis_Homo sapiens_hsa007901.17257756
43Collecting duct acid secretion_Homo sapiens_hsa049661.03018717
44Cell cycle_Homo sapiens_hsa041101.02956272
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.99981487
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97739193
47p53 signaling pathway_Homo sapiens_hsa041150.96926395
48N-Glycan biosynthesis_Homo sapiens_hsa005100.94359399
49Pyruvate metabolism_Homo sapiens_hsa006200.93754627
50Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.89027518
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.84712061
52Butanoate metabolism_Homo sapiens_hsa006500.83550270
53Phototransduction_Homo sapiens_hsa047440.81723612
54Cardiac muscle contraction_Homo sapiens_hsa042600.79737113
55Peroxisome_Homo sapiens_hsa041460.78740070
56Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.77061905
57mRNA surveillance pathway_Homo sapiens_hsa030150.72031051
58Oocyte meiosis_Homo sapiens_hsa041140.71882183
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68640049
60Metabolic pathways_Homo sapiens_hsa011000.64202133
61Caffeine metabolism_Homo sapiens_hsa002320.63909057
62Primary bile acid biosynthesis_Homo sapiens_hsa001200.60459463
63Epstein-Barr virus infection_Homo sapiens_hsa051690.60159578
64TGF-beta signaling pathway_Homo sapiens_hsa043500.59326362
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59039925
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52263735
67Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.51825854
68Maturity onset diabetes of the young_Homo sapiens_hsa049500.51337638
69Tryptophan metabolism_Homo sapiens_hsa003800.45654592
70Glutathione metabolism_Homo sapiens_hsa004800.45070870
71Intestinal immune network for IgA production_Homo sapiens_hsa046720.44573448
72Legionellosis_Homo sapiens_hsa051340.43150985
73Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.42598724
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.41225105
75Vibrio cholerae infection_Homo sapiens_hsa051100.38713382
76Rheumatoid arthritis_Homo sapiens_hsa053230.38239518
77Shigellosis_Homo sapiens_hsa051310.35389740
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.34997248
79RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.34352299
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34301668
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32744522
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.29513306
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25941431
84Sulfur relay system_Homo sapiens_hsa041220.23129075
85Chemical carcinogenesis_Homo sapiens_hsa052040.22814049
86Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.20842657
87Carbon metabolism_Homo sapiens_hsa012000.17707317
88Olfactory transduction_Homo sapiens_hsa047400.16917849
89T cell receptor signaling pathway_Homo sapiens_hsa046600.16039520
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.15523860
91Viral carcinogenesis_Homo sapiens_hsa052030.14545386
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.14064484
93Linoleic acid metabolism_Homo sapiens_hsa005910.13235995
94Measles_Homo sapiens_hsa051620.13007849
95Herpes simplex infection_Homo sapiens_hsa051680.12895458
96Antigen processing and presentation_Homo sapiens_hsa046120.11225783
97Sphingolipid metabolism_Homo sapiens_hsa006000.10954431
98Hematopoietic cell lineage_Homo sapiens_hsa046400.10750969
99HTLV-I infection_Homo sapiens_hsa051660.09349612
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.07752205

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