SNRPD2

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 belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)7.73792435
2translational termination (GO:0006415)7.48032087
3ribosomal small subunit biogenesis (GO:0042274)7.22215802
4ribosomal small subunit assembly (GO:0000028)7.21864036
5maturation of SSU-rRNA (GO:0030490)6.47010527
6translational elongation (GO:0006414)6.43942968
7SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.43749776
8cotranslational protein targeting to membrane (GO:0006613)6.36515201
9protein targeting to ER (GO:0045047)6.32411648
10establishment of protein localization to endoplasmic reticulum (GO:0072599)6.02616049
11protein localization to endoplasmic reticulum (GO:0070972)5.95070849
12cellular protein complex disassembly (GO:0043624)5.93699495
13viral life cycle (GO:0019058)5.86562539
14nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.83530526
15translational initiation (GO:0006413)5.78400845
16ribosomal large subunit biogenesis (GO:0042273)5.76349479
17chaperone-mediated protein transport (GO:0072321)5.38039365
18protein complex disassembly (GO:0043241)5.21404380
19mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.04460512
20macromolecular complex disassembly (GO:0032984)4.93892724
21translation (GO:0006412)4.75937926
22ATP synthesis coupled proton transport (GO:0015986)4.67847297
23energy coupled proton transport, down electrochemical gradient (GO:0015985)4.67847297
24ribonucleoprotein complex biogenesis (GO:0022613)4.62310015
25DNA deamination (GO:0045006)4.54504461
26protein complex biogenesis (GO:0070271)4.39767449
27nuclear-transcribed mRNA catabolic process (GO:0000956)4.31422487
28mitochondrial respiratory chain complex assembly (GO:0033108)4.23931616
29establishment of integrated proviral latency (GO:0075713)4.22863207
30proteasome assembly (GO:0043248)4.19510867
31protein targeting to membrane (GO:0006612)4.13555698
32mRNA catabolic process (GO:0006402)4.07943182
33rRNA processing (GO:0006364)4.04876584
34DNA strand elongation involved in DNA replication (GO:0006271)4.00041111
35establishment of protein localization to mitochondrial membrane (GO:0090151)3.98182984
36formation of translation preinitiation complex (GO:0001731)3.98126629
37transcription elongation from RNA polymerase III promoter (GO:0006385)3.96711354
38termination of RNA polymerase III transcription (GO:0006386)3.96711354
39inner mitochondrial membrane organization (GO:0007007)3.92111720
40rRNA metabolic process (GO:0016072)3.90103261
41telomere maintenance via semi-conservative replication (GO:0032201)3.89947466
42* spliceosomal snRNP assembly (GO:0000387)3.89220765
43cellular component biogenesis (GO:0044085)3.86893991
44RNA catabolic process (GO:0006401)3.85117354
45GTP biosynthetic process (GO:0006183)3.78697158
46DNA strand elongation (GO:0022616)3.76518448
47DNA replication initiation (GO:0006270)3.70067495
48protein targeting to mitochondrion (GO:0006626)3.69920611
49UTP biosynthetic process (GO:0006228)3.68830133
50ATP biosynthetic process (GO:0006754)3.68013106
51negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.67001269
52oxidative phosphorylation (GO:0006119)3.66033060
53mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.57919198
54purine nucleoside triphosphate biosynthetic process (GO:0009145)3.57127118
55purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.55720306
56positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.52841492
57transcription-coupled nucleotide-excision repair (GO:0006283)3.52327601
58respiratory chain complex IV assembly (GO:0008535)3.51868527
59DNA replication checkpoint (GO:0000076)3.51106246
607-methylguanosine mRNA capping (GO:0006370)3.51006157
61pseudouridine synthesis (GO:0001522)3.47947403
627-methylguanosine RNA capping (GO:0009452)3.45076673
63RNA capping (GO:0036260)3.45076673
64* spliceosomal complex assembly (GO:0000245)3.44853241
65establishment of viral latency (GO:0019043)3.44009496
66protein localization to mitochondrion (GO:0070585)3.43406241
67negative regulation of ligase activity (GO:0051352)3.43285708
68negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.43285708
69cytochrome complex assembly (GO:0017004)3.42008718
70exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.40789482
71protein neddylation (GO:0045116)3.40137775
72positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.38959739
73anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.36604254
74positive regulation of ligase activity (GO:0051351)3.36041128
75respiratory electron transport chain (GO:0022904)3.34913608
76nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.34686216
77regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.34518346
78telomere maintenance via recombination (GO:0000722)3.34150638
79ribonucleoside triphosphate biosynthetic process (GO:0009201)3.31398915
80electron transport chain (GO:0022900)3.26771151
81DNA damage response, detection of DNA damage (GO:0042769)3.26648064
82hydrogen ion transmembrane transport (GO:1902600)3.26421821
83guanosine-containing compound biosynthetic process (GO:1901070)3.24203655
84cullin deneddylation (GO:0010388)3.24153257
85ribosome biogenesis (GO:0042254)3.23941214
86DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.21780228
87DNA unwinding involved in DNA replication (GO:0006268)3.21311608
88mitotic recombination (GO:0006312)3.20841618
89regulation of mitochondrial translation (GO:0070129)3.19612691
90regulation of ubiquitin-protein transferase activity (GO:0051438)3.18306644
91transcription elongation from RNA polymerase I promoter (GO:0006362)3.17695397
92rRNA modification (GO:0000154)3.17369710
93intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.14716821
94signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.14716821
95viral mRNA export from host cell nucleus (GO:0046784)3.14383757
96UTP metabolic process (GO:0046051)3.13314034
97nucleotide-excision repair, DNA gap filling (GO:0006297)3.12827826
98deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.12389797
99signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.12296160
100signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.12296160
101signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.12296160
102signal transduction involved in DNA integrity checkpoint (GO:0072401)3.12124949
103signal transduction involved in DNA damage checkpoint (GO:0072422)3.12124949
104transcription from RNA polymerase I promoter (GO:0006360)3.11438535
105pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.10552978
106chromatin remodeling at centromere (GO:0031055)3.09154165
107signal transduction involved in cell cycle checkpoint (GO:0072395)3.08798867
108CENP-A containing nucleosome assembly (GO:0034080)3.08055641
109termination of RNA polymerase I transcription (GO:0006363)3.07684518
110purine nucleobase biosynthetic process (GO:0009113)3.07587607
111telomere maintenance via telomere lengthening (GO:0010833)3.05755041
112regulation of ligase activity (GO:0051340)3.05632263
113pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.05620523
114regulation of cellular amino acid metabolic process (GO:0006521)3.04922887
115establishment of protein localization to mitochondrion (GO:0072655)3.04673753
116nucleobase biosynthetic process (GO:0046112)3.03734444
117nucleoside triphosphate biosynthetic process (GO:0009142)3.03644781
118mitochondrial respiratory chain complex I assembly (GO:0032981)3.02314343
119NADH dehydrogenase complex assembly (GO:0010257)3.02314343
120mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.02314343

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.72433510
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.85627212
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.37812094
4* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.98794490
5* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.91445533
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.89921778
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.76390158
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.55985083
9MYC_19079543_ChIP-ChIP_MESCs_Mouse3.53749740
10* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.47944396
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.33232796
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.22981921
13* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.11758701
14* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.06351750
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.98213501
16* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.96027800
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.91525075
18* XRN2_22483619_ChIP-Seq_HELA_Human2.78760215
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.77691939
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.65645293
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.60231515
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.59612544
23VDR_23849224_ChIP-Seq_CD4+_Human2.44168601
24FOXM1_23109430_ChIP-Seq_U2OS_Human2.43531188
25TTF2_22483619_ChIP-Seq_HELA_Human2.34542732
26DCP1A_22483619_ChIP-Seq_HELA_Human2.32943815
27THAP11_20581084_ChIP-Seq_MESCs_Mouse2.27019290
28* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.23452032
29* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.18058771
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.12608740
31ELF1_17652178_ChIP-ChIP_JURKAT_Human2.12506042
32FOXP3_21729870_ChIP-Seq_TREG_Human2.07841134
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.02330547
34ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.00888302
35MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.00785187
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.94733232
37ELK1_19687146_ChIP-ChIP_HELA_Human1.93870786
38GABP_19822575_ChIP-Seq_HepG2_Human1.90910502
39POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.78306856
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.74091380
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.68277484
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.66323208
43HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.65995971
44KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.61376503
45MYCN_18555785_ChIP-Seq_MESCs_Mouse1.59149541
46TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.56483405
47SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.51977471
48YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51474521
49* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.50912703
50FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.49368715
51PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.48493926
52ELK1_22589737_ChIP-Seq_MCF10A_Human1.41314989
53SOX2_18555785_ChIP-Seq_MESCs_Mouse1.39292020
54CIITA_25753668_ChIP-Seq_RAJI_Human1.39173084
55MYC_18940864_ChIP-ChIP_HL60_Human1.38750762
56HOXB4_20404135_ChIP-ChIP_EML_Mouse1.37409763
57ZFX_18555785_ChIP-Seq_MESCs_Mouse1.36498681
58E2F1_21310950_ChIP-Seq_MCF-7_Human1.36494599
59* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.33418782
60MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29214319
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25537845
62* CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.24309326
63SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.21546125
64FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21410447
65HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.20271413
66KDM5A_27292631_Chip-Seq_BREAST_Human1.19227595
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.17702147
68ERG_20887958_ChIP-Seq_HPC-7_Mouse1.17562150
69KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.16785958
70KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.16785958
71KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.16785958
72BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.14510279
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.13438129
74POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13225912
75STAT3_1855785_ChIP-Seq_MESCs_Mouse1.13000650
76AR_21909140_ChIP-Seq_LNCAP_Human1.11771708
77TP63_19390658_ChIP-ChIP_HaCaT_Human1.08176671
78CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06391595
79SRY_22984422_ChIP-ChIP_TESTIS_Rat1.06091841
80* CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.03129366
81NANOG_16153702_ChIP-ChIP_HESCs_Human1.02933208
82KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.02673405
83OCT4_18692474_ChIP-Seq_MEFs_Mouse1.02489419
84SOX2_18692474_ChIP-Seq_MEFs_Mouse1.00821240
85DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.00007501
86CTCF_18555785_ChIP-Seq_MESCs_Mouse0.95755776
87* PADI4_21655091_ChIP-ChIP_MCF-7_Human0.95246784
88* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.94680405
89IRF1_19129219_ChIP-ChIP_H3396_Human0.94478487
90TCF3_18692474_ChIP-Seq_MEFs_Mouse0.94224821
91POU5F1_16153702_ChIP-ChIP_HESCs_Human0.92647033
92* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.92151374
93E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.90595180
94FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.88317713
95KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88124336
96HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.87838007
97DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.86452711
98ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.85732491
99SOX2_16153702_ChIP-ChIP_HESCs_Human0.84718162
100* SOX17_20123909_ChIP-Seq_XEN_Mouse0.84505514
101YY1_22570637_ChIP-Seq_MALME-3M_Human0.84137390
102SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.83841637
103NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.82114949
104FOXP1_21924763_ChIP-Seq_HESCs_Human0.78590735
105SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.78134430
106TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75617026
107EWS_26573619_Chip-Seq_HEK293_Human0.75373901
108ZNF263_19887448_ChIP-Seq_K562_Human0.74614549
109* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.72302369
110ESR1_15608294_ChIP-ChIP_MCF-7_Human0.69366182
111CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.68675137
112FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.67464246
113KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.65331775
114NOTCH1_21737748_ChIP-Seq_TLL_Human0.63431835

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.69438010
2MP0003693_abnormal_embryo_hatching4.54266629
3MP0004957_abnormal_blastocyst_morpholog4.19235741
4MP0003111_abnormal_nucleus_morphology3.53533268
5MP0010094_abnormal_chromosome_stability3.48434484
6MP0008057_abnormal_DNA_replication3.24473724
7MP0003077_abnormal_cell_cycle3.23002772
8MP0008932_abnormal_embryonic_tissue3.12588048
9MP0003136_yellow_coat_color2.87014550
10MP0008058_abnormal_DNA_repair2.85820289
11MP0006292_abnormal_olfactory_placode2.36920254
12MP0003786_premature_aging2.24431415
13MP0003123_paternal_imprinting2.21215333
14MP0008007_abnormal_cellular_replicative2.21133565
15MP0010030_abnormal_orbit_morphology2.20162207
16MP0003315_abnormal_perineum_morphology2.14693076
17MP0003718_maternal_effect1.86519165
18MP0009697_abnormal_copulation1.85791534
19MP0004133_heterotaxia1.84689351
20MP0002938_white_spotting1.83271639
21MP0001529_abnormal_vocalization1.76227088
22MP0002102_abnormal_ear_morphology1.74692190
23MP0001730_embryonic_growth_arrest1.63525549
24MP0000350_abnormal_cell_proliferation1.63070323
25MP0000049_abnormal_middle_ear1.55516012
26MP0002132_abnormal_respiratory_system1.44040956
27MP0005084_abnormal_gallbladder_morpholo1.43750967
28MP0008877_abnormal_DNA_methylation1.43382784
29MP0008789_abnormal_olfactory_epithelium1.42490865
30MP0002234_abnormal_pharynx_morphology1.41769789
31MP0002837_dystrophic_cardiac_calcinosis1.34662138
32MP0005408_hypopigmentation1.33884675
33MP0001346_abnormal_lacrimal_gland1.33857488
34MP0002653_abnormal_ependyma_morphology1.32984420
35MP0001697_abnormal_embryo_size1.25989544
36MP0002085_abnormal_embryonic_tissue1.24220110
37MP0002751_abnormal_autonomic_nervous1.24062716
38MP0003941_abnormal_skin_development1.22530474
39MP0006035_abnormal_mitochondrial_morpho1.21997310
40MP0000490_abnormal_crypts_of1.21504674
41MP0002249_abnormal_larynx_morphology1.21119362
42MP0002210_abnormal_sex_determination1.20189219
43MP0004147_increased_porphyrin_level1.20090841
44MP0002163_abnormal_gland_morphology1.19254291
45MP0000537_abnormal_urethra_morphology1.18648676
46MP0003938_abnormal_ear_development1.17813981
47MP0000631_abnormal_neuroendocrine_gland1.17370805
48MP0002160_abnormal_reproductive_system1.16258922
49MP0000313_abnormal_cell_death1.16005740
50MP0003186_abnormal_redox_activity1.15311977
51MP0002736_abnormal_nociception_after1.15228058
52MP0002080_prenatal_lethality1.15023727
53MP0002277_abnormal_respiratory_mucosa1.13205445
54MP0002638_abnormal_pupillary_reflex1.12008235
55MP0001905_abnormal_dopamine_level1.10173740
56MP0003806_abnormal_nucleotide_metabolis1.09648880
57MP0006036_abnormal_mitochondrial_physio1.09028136
58MP0003119_abnormal_digestive_system1.07531469
59MP0001672_abnormal_embryogenesis/_devel1.07018984
60MP0005380_embryogenesis_phenotype1.07018984
61MP0009333_abnormal_splenocyte_physiolog1.06852789
62MP0002697_abnormal_eye_size1.05790619
63MP0003567_abnormal_fetal_cardiomyocyte1.05437116
64MP0001145_abnormal_male_reproductive1.04107198
65MP0003121_genomic_imprinting1.03983903
66MP0008995_early_reproductive_senescence1.03682941
67MP0001293_anophthalmia1.02860519
68MP0002095_abnormal_skin_pigmentation1.02830412
69MP0004142_abnormal_muscle_tone1.02637725
70MP0001986_abnormal_taste_sensitivity1.02073087
71MP0003937_abnormal_limbs/digits/tail_de1.01187079
72MP0005389_reproductive_system_phenotype0.97092883
73MP0001764_abnormal_homeostasis0.97089519
74MP0005499_abnormal_olfactory_system0.96855151
75MP0005394_taste/olfaction_phenotype0.96855151
76MP0002282_abnormal_trachea_morphology0.95904561
77MP0001188_hyperpigmentation0.95485968
78MP0000566_synostosis0.95166983
79MP0002084_abnormal_developmental_patter0.93905910
80MP0006072_abnormal_retinal_apoptosis0.93557982
81MP0005409_darkened_coat_color0.92577334
82MP0003283_abnormal_digestive_organ0.91194107
83MP0001727_abnormal_embryo_implantation0.90728848
84MP0002233_abnormal_nose_morphology0.90546088
85MP0003890_abnormal_embryonic-extraembry0.90490029
86MP0004381_abnormal_hair_follicle0.90466606
87MP0001929_abnormal_gametogenesis0.88677779
88MP0002019_abnormal_tumor_incidence0.86586537
89MP0000358_abnormal_cell_content/0.86478632
90MP0000762_abnormal_tongue_morphology0.85989859
91MP0001286_abnormal_eye_development0.85268443
92MP0002111_abnormal_tail_morphology0.85154379
93MP0003984_embryonic_growth_retardation0.84641741
94MP0005174_abnormal_tail_pigmentation0.84085000
95MP0002396_abnormal_hematopoietic_system0.83624685
96MP0000653_abnormal_sex_gland0.83224069
97MP0001485_abnormal_pinna_reflex0.82433863
98MP0002088_abnormal_embryonic_growth/wei0.81545393
99MP0005171_absent_coat_pigmentation0.80042848
100MP0001919_abnormal_reproductive_system0.78971221
101MP0005379_endocrine/exocrine_gland_phen0.78479026
102MP0005075_abnormal_melanosome_morpholog0.78466806
103MP0005253_abnormal_eye_physiology0.77980334
104MP0004197_abnormal_fetal_growth/weight/0.75993763
105MP0002932_abnormal_joint_morphology0.74297309
106MP0002114_abnormal_axial_skeleton0.72953353
107MP0009250_abnormal_appendicular_skeleto0.72520463
108MP0009053_abnormal_anal_canal0.72495857
109MP0000647_abnormal_sebaceous_gland0.72279932
110MP0001881_abnormal_mammary_gland0.72126017
111MP0003861_abnormal_nervous_system0.70487441
112MP0000750_abnormal_muscle_regeneration0.69816418
113MP0005391_vision/eye_phenotype0.68417360
114MP0003385_abnormal_body_wall0.68226169
115MP0003122_maternal_imprinting0.67242252
116MP0000372_irregular_coat_pigmentation0.67146804
117MP0000703_abnormal_thymus_morphology0.66930668
118MP0003011_delayed_dark_adaptation0.66244080
119MP0001984_abnormal_olfaction0.65952305
120MP0001119_abnormal_female_reproductive0.64113294
121MP0003755_abnormal_palate_morphology0.64075239
122MP0003698_abnormal_male_reproductive0.63701523
123MP0005377_hearing/vestibular/ear_phenot0.62902023
124MP0003878_abnormal_ear_physiology0.62902023

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)7.10360593
2Abnormal number of erythroid precursors (HP:0012131)6.45799960
3Reticulocytopenia (HP:0001896)6.41855595
4Macrocytic anemia (HP:0001972)5.03692398
5Acute necrotizing encephalopathy (HP:0006965)4.73692754
6Mitochondrial inheritance (HP:0001427)4.52781205
7Pallor (HP:0000980)4.43881384
8Increased hepatocellular lipid droplets (HP:0006565)4.35090879
9Abnormal mitochondria in muscle tissue (HP:0008316)4.11227830
10Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.87156781
11Increased CSF lactate (HP:0002490)3.84823067
12Hepatocellular necrosis (HP:0001404)3.81949395
13Progressive macrocephaly (HP:0004481)3.77859373
14Lipid accumulation in hepatocytes (HP:0006561)3.67366040
15Acute encephalopathy (HP:0006846)3.57797484
16Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.55290313
17Aplasia/Hypoplasia of the sacrum (HP:0008517)3.53864309
18Breast hypoplasia (HP:0003187)3.42301964
19Renal Fanconi syndrome (HP:0001994)3.37545409
20Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.26905247
21Decreased activity of mitochondrial respiratory chain (HP:0008972)3.26905247
223-Methylglutaconic aciduria (HP:0003535)3.25286515
23Exertional dyspnea (HP:0002875)3.12166741
24Birth length less than 3rd percentile (HP:0003561)3.06957339
25Hepatic necrosis (HP:0002605)3.04927294
26Cerebral hypomyelination (HP:0006808)2.94998896
27Increased serum lactate (HP:0002151)2.93432314
28Oral leukoplakia (HP:0002745)2.90736144
29Exercise intolerance (HP:0003546)2.82045808
30Increased intramyocellular lipid droplets (HP:0012240)2.76776208
31Abnormality of glycolysis (HP:0004366)2.70811294
32Increased serum pyruvate (HP:0003542)2.70811294
33Absent thumb (HP:0009777)2.66871816
34Respiratory failure (HP:0002878)2.64114345
35Respiratory difficulties (HP:0002880)2.60757148
36Patellar aplasia (HP:0006443)2.59153338
37Aplastic anemia (HP:0001915)2.58566951
38Aplasia/Hypoplasia of the patella (HP:0006498)2.56952871
39Rough bone trabeculation (HP:0100670)2.53047245
40Triphalangeal thumb (HP:0001199)2.43915855
41Horseshoe kidney (HP:0000085)2.43475185
42Trismus (HP:0000211)2.41460207
43Carpal bone hypoplasia (HP:0001498)2.40383316
44Leukodystrophy (HP:0002415)2.34998783
45Optic disc pallor (HP:0000543)2.34890690
4611 pairs of ribs (HP:0000878)2.34126806
47Absent radius (HP:0003974)2.32464974
48Lethargy (HP:0001254)2.30558757
49Concave nail (HP:0001598)2.28262217
50Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.26296436
51Colon cancer (HP:0003003)2.26183125
52Supernumerary spleens (HP:0009799)2.25242285
53Meckel diverticulum (HP:0002245)2.25194302
54Lactic acidosis (HP:0003128)2.22834816
55Absent forearm bone (HP:0003953)2.19997568
56Aplasia involving forearm bones (HP:0009822)2.19997568
57Cerebral edema (HP:0002181)2.17238644
58Secondary amenorrhea (HP:0000869)2.17060805
59Depressed nasal ridge (HP:0000457)2.16928548
60Abnormality of the ileum (HP:0001549)2.16546370
61Asplenia (HP:0001746)2.16356138
62Abnormality of the preputium (HP:0100587)2.15910955
63Multiple enchondromatosis (HP:0005701)2.14566072
64Abnormal protein glycosylation (HP:0012346)2.13550095
65Abnormal glycosylation (HP:0012345)2.13550095
66Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.13550095
67Abnormal protein N-linked glycosylation (HP:0012347)2.13550095
68Chromsome breakage (HP:0040012)2.12479683
69Testicular atrophy (HP:0000029)2.11324871
70Septo-optic dysplasia (HP:0100842)2.09862680
71Abnormal number of incisors (HP:0011064)2.09571377
72Hypoplasia of the radius (HP:0002984)2.09392103
73Increased muscle lipid content (HP:0009058)2.09363739
74Abnormal hemoglobin (HP:0011902)2.07304412
75Stenosis of the external auditory canal (HP:0000402)2.06768485
76Cleft eyelid (HP:0000625)2.06240074
77Chromosomal breakage induced by crosslinking agents (HP:0003221)2.05934036
78Premature graying of hair (HP:0002216)2.05100777
79Microvesicular hepatic steatosis (HP:0001414)2.02738834
80Abnormality of reticulocytes (HP:0004312)2.02619552
81Selective tooth agenesis (HP:0001592)2.02581283
82Emotional lability (HP:0000712)2.02165112
83Generalized aminoaciduria (HP:0002909)2.01886769
84Abnormality of urine glucose concentration (HP:0011016)2.01279383
85Glycosuria (HP:0003076)2.01279383
86Duplicated collecting system (HP:0000081)2.00806914
87Abnormality of the labia minora (HP:0012880)1.99330469
88Aplasia/Hypoplasia of the spleen (HP:0010451)1.99228941
89Hypoplasia of the pons (HP:0012110)1.97633944
90Aplasia/hypoplasia of the uterus (HP:0008684)1.97518989
91Hyperphosphaturia (HP:0003109)1.97064026
92Sparse eyelashes (HP:0000653)1.97054503
93Abnormality of renal resorption (HP:0011038)1.96233427
94Methylmalonic acidemia (HP:0002912)1.95835758
95Reduced antithrombin III activity (HP:0001976)1.95087791
96X-linked dominant inheritance (HP:0001423)1.91783815
97Methylmalonic aciduria (HP:0012120)1.91739874
98Hyperglycinemia (HP:0002154)1.91222604
99Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.90886121
100Abnormality of the pons (HP:0007361)1.90741744
101Abnormal lung lobation (HP:0002101)1.87945391
102Congenital, generalized hypertrichosis (HP:0004540)1.86729267
103Type I transferrin isoform profile (HP:0003642)1.86503229
104Pancreatic cysts (HP:0001737)1.85359362
105Atresia of the external auditory canal (HP:0000413)1.84671876
106Abnormality of methionine metabolism (HP:0010901)1.84098064
107Premature ovarian failure (HP:0008209)1.83351162
108Pancreatic fibrosis (HP:0100732)1.81890133
109Abnormal trabecular bone morphology (HP:0100671)1.80223117
110Glossoptosis (HP:0000162)1.79597311
111Absent septum pellucidum (HP:0001331)1.79332568
112Cellular immunodeficiency (HP:0005374)1.78391648
113Abdominal situs inversus (HP:0003363)1.78246917
114Abnormality of abdominal situs (HP:0011620)1.78246917
115Microretrognathia (HP:0000308)1.77657123
116Abnormality of placental membranes (HP:0011409)1.76764274
117Amniotic constriction ring (HP:0009775)1.76764274
118Pancytopenia (HP:0001876)1.76640819
119True hermaphroditism (HP:0010459)1.75741422
120Sclerocornea (HP:0000647)1.74046319
121Facial cleft (HP:0002006)1.73822600
122CNS demyelination (HP:0007305)1.73116508
123Progressive external ophthalmoplegia (HP:0000590)1.72545400
124Abnormality of the renal collecting system (HP:0004742)1.72276739
125Partial duplication of thumb phalanx (HP:0009944)1.72071718
126Molar tooth sign on MRI (HP:0002419)1.71476702
127Abnormality of midbrain morphology (HP:0002418)1.71476702
128Aplasia/Hypoplasia of the uvula (HP:0010293)1.70635477
129Bilateral microphthalmos (HP:0007633)1.69877930
130Missing ribs (HP:0000921)1.67692646
131Neoplasm of the pancreas (HP:0002894)1.67042197
132Degeneration of anterior horn cells (HP:0002398)1.67022292
133Abnormality of the anterior horn cell (HP:0006802)1.67022292
134Abnormality of serum amino acid levels (HP:0003112)1.65921642
135Partial duplication of the phalanx of hand (HP:0009999)1.63468980
136Blindness (HP:0000618)1.62675004
137Abnormality of aspartate family amino acid metabolism (HP:0010899)1.61157190

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK26.33962041
2TLK14.82419044
3BUB14.78229316
4NME24.12607726
5STK163.76323620
6WEE13.70666510
7SRPK13.27244425
8EIF2AK13.00169405
9VRK12.62579806
10CDC72.52987474
11TESK22.38144179
12NME12.36681003
13MKNK12.06876061
14BCKDK1.91324428
15MKNK21.86813514
16TAF11.75047921
17NUAK11.67204760
18PBK1.62283465
19EIF2AK31.55837991
20TSSK61.55423990
21PIM21.54994383
22PLK41.54713179
23PLK11.53880832
24RPS6KB21.50475503
25PNCK1.45728277
26MST41.45395731
27DYRK31.44677614
28AURKA1.43681789
29TTK1.39644629
30BRSK21.37469834
31CDK71.36323790
32AURKB1.35267657
33NEK21.30672714
34BRAF1.22221791
35LIMK11.21705846
36ILK1.17761410
37DYRK21.13460195
38TESK11.09783340
39PASK1.07448161
40PLK31.05195024
41WNK31.03672481
42MAP3K111.00955018
43MAP4K21.00237766
44ATR0.99164691
45CHEK20.98639187
46PDK20.98540307
47EPHA20.96947608
48CSNK2A20.96016115
49ZAK0.94340994
50CDK190.93555895
51BRSK10.93537234
52PAK40.90846064
53ACVR1B0.89682196
54PAK10.88974302
55CSNK2A10.88696447
56RPS6KA50.85191060
57DAPK30.83178558
58CASK0.81607507
59MAP3K80.79253235
60LRRK20.77970927
61KDR0.77822830
62PRKCI0.77416108
63CDK80.77332764
64MAP2K20.76954543
65BMPR1B0.74100250
66ABL20.73727891
67CHEK10.73191763
68UHMK10.72081905
69TNIK0.72057022
70DAPK10.70684516
71TRIM280.70421884
72NEK10.63059474
73ARAF0.62230753
74MYLK0.57652937
75RPS6KA40.56609778
76EIF2AK20.56408978
77GRK10.56090866
78CSNK1G20.53703726
79CDK20.53601041
80INSRR0.51556455
81TGFBR10.50697025
82CDK40.48846685
83ATM0.48843758
84CLK10.48539674
85CSNK1A1L0.47410808
86CCNB10.47142718
87STK40.46922096
88MUSK0.46920504
89MAP2K70.45934745
90CSNK1E0.45297103
91PIM10.44147481
92MAPKAPK50.43466389
93CDK11A0.42508713
94ADRBK20.42177814
95YES10.40969790
96CDK10.40864822
97CSNK1G30.40086759
98CDK140.39326181
99GRK60.38331004
100CDK150.35437431
101ROCK20.34343583
102SCYL20.33794979
103MAPK150.33765614
104CDK180.33227427
105BLK0.31212295
106MAP3K120.31037734
107FLT30.30919728
108CDK30.30299423
109STK390.30058696
110ADRBK10.28459469
111EPHB20.26455273
112STK100.26363813
113CAMK2B0.25540532
114PRKCG0.25213446
115CSNK1A10.25037117
116PLK20.24531612
117IRAK20.24211038
118ALK0.23004244
119AKT20.20501899
120PRKDC0.20061644
121RPS6KC10.18381301
122RPS6KL10.18381301
123LYN0.17781779
124PAK20.15453823
125LATS20.14882864
126CSNK1G10.14318016

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.46115115
2Proteasome_Homo sapiens_hsa030504.07717403
3DNA replication_Homo sapiens_hsa030303.86317741
4RNA polymerase_Homo sapiens_hsa030203.85771333
5Oxidative phosphorylation_Homo sapiens_hsa001903.41869513
6Mismatch repair_Homo sapiens_hsa034303.39847452
7* Spliceosome_Homo sapiens_hsa030403.15091687
8Parkinsons disease_Homo sapiens_hsa050123.07658249
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.89788969
10Homologous recombination_Homo sapiens_hsa034402.73037191
11Nucleotide excision repair_Homo sapiens_hsa034202.61965732
12Pyrimidine metabolism_Homo sapiens_hsa002402.58951009
13Huntingtons disease_Homo sapiens_hsa050162.51430475
14RNA transport_Homo sapiens_hsa030132.36244889
15Base excision repair_Homo sapiens_hsa034102.33305836
16Alzheimers disease_Homo sapiens_hsa050102.09844386
17Protein export_Homo sapiens_hsa030601.99579132
18Fanconi anemia pathway_Homo sapiens_hsa034601.92510238
19Basal transcription factors_Homo sapiens_hsa030221.83635902
20Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.79879522
21One carbon pool by folate_Homo sapiens_hsa006701.75348042
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.62962621
23Cell cycle_Homo sapiens_hsa041101.62761621
24RNA degradation_Homo sapiens_hsa030181.57493687
25Purine metabolism_Homo sapiens_hsa002301.40452388
26Non-homologous end-joining_Homo sapiens_hsa034501.35979806
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.27787015
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.21846955
29mRNA surveillance pathway_Homo sapiens_hsa030151.21731087
30Cardiac muscle contraction_Homo sapiens_hsa042601.17285398
31Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.10476698
32Systemic lupus erythematosus_Homo sapiens_hsa053221.10245670
33Pyruvate metabolism_Homo sapiens_hsa006201.07883064
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.04254300
35Sulfur relay system_Homo sapiens_hsa041221.01585591
36Fatty acid elongation_Homo sapiens_hsa000620.96581324
37Epstein-Barr virus infection_Homo sapiens_hsa051690.89118101
38p53 signaling pathway_Homo sapiens_hsa041150.85410624
39Propanoate metabolism_Homo sapiens_hsa006400.83541387
40Glutathione metabolism_Homo sapiens_hsa004800.73522372
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.72517490
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.69924159
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69780973
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.68933603
45Folate biosynthesis_Homo sapiens_hsa007900.66311023
46Sulfur metabolism_Homo sapiens_hsa009200.65742205
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.65675406
48Selenocompound metabolism_Homo sapiens_hsa004500.63334281
49Cyanoamino acid metabolism_Homo sapiens_hsa004600.61669172
50Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59292841
51Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59123213
52Oocyte meiosis_Homo sapiens_hsa041140.56231657
53Alcoholism_Homo sapiens_hsa050340.54913857
54Arachidonic acid metabolism_Homo sapiens_hsa005900.54038950
55Peroxisome_Homo sapiens_hsa041460.52390878
56Steroid biosynthesis_Homo sapiens_hsa001000.51145152
57Metabolic pathways_Homo sapiens_hsa011000.50705439
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.46356486
59Butanoate metabolism_Homo sapiens_hsa006500.42555616
60Pentose phosphate pathway_Homo sapiens_hsa000300.41603937
61Cysteine and methionine metabolism_Homo sapiens_hsa002700.41161229
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.41067899
63Basal cell carcinoma_Homo sapiens_hsa052170.40837512
64Viral carcinogenesis_Homo sapiens_hsa052030.39921231
65Herpes simplex infection_Homo sapiens_hsa051680.36901016
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36055652
67Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33420074
68Pentose and glucuronate interconversions_Homo sapiens_hsa000400.33248851
69Linoleic acid metabolism_Homo sapiens_hsa005910.32956239
70Hedgehog signaling pathway_Homo sapiens_hsa043400.31653840
71Antigen processing and presentation_Homo sapiens_hsa046120.30830032
72HTLV-I infection_Homo sapiens_hsa051660.30243914
73Drug metabolism - other enzymes_Homo sapiens_hsa009830.30038927
74Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.29219577
75Chemical carcinogenesis_Homo sapiens_hsa052040.25782056
76Nitrogen metabolism_Homo sapiens_hsa009100.24673163
77Phototransduction_Homo sapiens_hsa047440.24009975
78Tryptophan metabolism_Homo sapiens_hsa003800.23573908
79Biosynthesis of amino acids_Homo sapiens_hsa012300.21697384
80Thyroid cancer_Homo sapiens_hsa052160.21299146
81Vitamin digestion and absorption_Homo sapiens_hsa049770.21268713
82Primary immunodeficiency_Homo sapiens_hsa053400.21226741
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.20767179
84Asthma_Homo sapiens_hsa053100.20533382
85Vibrio cholerae infection_Homo sapiens_hsa051100.20311831
86N-Glycan biosynthesis_Homo sapiens_hsa005100.19660248
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.16834790
88Vitamin B6 metabolism_Homo sapiens_hsa007500.16795592
89beta-Alanine metabolism_Homo sapiens_hsa004100.16769274
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.15323718
91TGF-beta signaling pathway_Homo sapiens_hsa043500.15299804
92Arginine and proline metabolism_Homo sapiens_hsa003300.14370937
93Ether lipid metabolism_Homo sapiens_hsa005650.14325211
94Primary bile acid biosynthesis_Homo sapiens_hsa001200.13621059
95Hippo signaling pathway_Homo sapiens_hsa043900.13601325
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.13307694
97Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.13218993
98Bladder cancer_Homo sapiens_hsa052190.12733315
99Collecting duct acid secretion_Homo sapiens_hsa049660.11834759
100Wnt signaling pathway_Homo sapiens_hsa043100.11717184
101Phenylalanine metabolism_Homo sapiens_hsa003600.11716911
102Regulation of autophagy_Homo sapiens_hsa041400.11419997
103Graft-versus-host disease_Homo sapiens_hsa053320.10787063
104Carbon metabolism_Homo sapiens_hsa012000.10470372
105Retinol metabolism_Homo sapiens_hsa008300.09933739
106Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.08783406
107Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.08780099
108Autoimmune thyroid disease_Homo sapiens_hsa053200.08493791
109Fructose and mannose metabolism_Homo sapiens_hsa000510.08484105
110Transcriptional misregulation in cancer_Homo sapiens_hsa052020.08481379
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.08356763
112Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.07300731
113Allograft rejection_Homo sapiens_hsa053300.07038585
114Fatty acid metabolism_Homo sapiens_hsa012120.06884551
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.06699181
116Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.06007516
117Caffeine metabolism_Homo sapiens_hsa002320.05569439
118MicroRNAs in cancer_Homo sapiens_hsa052060.05106518
119Hematopoietic cell lineage_Homo sapiens_hsa046400.04681002
120Pathways in cancer_Homo sapiens_hsa052000.04438027
121Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.04346579
122Notch signaling pathway_Homo sapiens_hsa043300.04143988
123Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.04099464
124Sphingolipid metabolism_Homo sapiens_hsa006000.03691677
125Galactose metabolism_Homo sapiens_hsa000520.02958660
126Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.02859823
127Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.02631926
128Tyrosine metabolism_Homo sapiens_hsa003500.02367819
129Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.01483472
130Apoptosis_Homo sapiens_hsa042100.00928073
131Legionellosis_Homo sapiens_hsa051340.00717707
132Tight junction_Homo sapiens_hsa045300.00634104

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