SNRPD3

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: This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1viral transcription (GO:0019083)6.33275322
2ribosomal small subunit biogenesis (GO:0042274)6.20432567
3translational termination (GO:0006415)6.13566856
4ribosomal small subunit assembly (GO:0000028)5.99436500
5maturation of SSU-rRNA (GO:0030490)5.65523659
6translational elongation (GO:0006414)5.39290022
7SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.30546825
8cotranslational protein targeting to membrane (GO:0006613)5.25254486
9protein targeting to ER (GO:0045047)5.21273144
10ribosomal large subunit biogenesis (GO:0042273)5.11171496
11translational initiation (GO:0006413)5.06735207
12nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.00507028
13cellular protein complex disassembly (GO:0043624)4.97086226
14establishment of protein localization to endoplasmic reticulum (GO:0072599)4.95708663
15protein localization to endoplasmic reticulum (GO:0070972)4.91901486
16viral life cycle (GO:0019058)4.84347291
17ribonucleoprotein complex biogenesis (GO:0022613)4.47158571
18protein complex disassembly (GO:0043241)4.44719498
19regulation of mitochondrial translation (GO:0070129)4.43815943
20DNA strand elongation involved in DNA replication (GO:0006271)4.34526900
21formation of translation preinitiation complex (GO:0001731)4.30216373
22mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.28786944
23translation (GO:0006412)4.24225712
24macromolecular complex disassembly (GO:0032984)4.21779164
25spliceosomal complex assembly (GO:0000245)4.21586447
26respiratory electron transport chain (GO:0022904)4.19909436
27establishment of integrated proviral latency (GO:0075713)4.14423956
28* spliceosomal snRNP assembly (GO:0000387)4.13828583
29mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.13781993
30DNA strand elongation (GO:0022616)4.12268826
31telomere maintenance via semi-conservative replication (GO:0032201)4.11836115
32electron transport chain (GO:0022900)4.09043695
33negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.05443905
34rRNA processing (GO:0006364)4.02771755
35proteasome assembly (GO:0043248)4.01150248
36DNA deamination (GO:0045006)3.93679617
37termination of RNA polymerase III transcription (GO:0006386)3.93165548
38transcription elongation from RNA polymerase III promoter (GO:0006385)3.93165548
39DNA replication initiation (GO:0006270)3.88636100
40ATP synthesis coupled proton transport (GO:0015986)3.87990386
41energy coupled proton transport, down electrochemical gradient (GO:0015985)3.87990386
42rRNA metabolic process (GO:0016072)3.86438049
43nuclear-transcribed mRNA catabolic process (GO:0000956)3.84671751
44anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.78956386
45negative regulation of ligase activity (GO:0051352)3.78408926
46negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.78408926
47positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.77121895
48regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.73876614
49DNA unwinding involved in DNA replication (GO:0006268)3.72944666
50cellular component biogenesis (GO:0044085)3.72165030
517-methylguanosine mRNA capping (GO:0006370)3.64849545
52protein targeting to mitochondrion (GO:0006626)3.63948088
53mRNA catabolic process (GO:0006402)3.63116899
54telomere maintenance via recombination (GO:0000722)3.61790656
55nucleobase biosynthetic process (GO:0046112)3.61639141
56ribosome biogenesis (GO:0042254)3.61633047
577-methylguanosine RNA capping (GO:0009452)3.59040557
58RNA capping (GO:0036260)3.59040557
59CENP-A containing nucleosome assembly (GO:0034080)3.56699769
60histone exchange (GO:0043486)3.55423463
61rRNA modification (GO:0000154)3.55264274
62pseudouridine synthesis (GO:0001522)3.52515430
63mitochondrial respiratory chain complex assembly (GO:0033108)3.51611355
64DNA replication checkpoint (GO:0000076)3.50539986
65protein neddylation (GO:0045116)3.50362883
66transcription-coupled nucleotide-excision repair (GO:0006283)3.49976717
67cullin deneddylation (GO:0010388)3.49745362
68exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.48783746
69chromatin remodeling at centromere (GO:0031055)3.48198404
70protein complex biogenesis (GO:0070271)3.47801895
71RNA catabolic process (GO:0006401)3.47571161
72oxidative phosphorylation (GO:0006119)3.46898847
73DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.46747675
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.45495991
75mitotic recombination (GO:0006312)3.41695647
76establishment of protein localization to mitochondrial membrane (GO:0090151)3.41380393
77intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.40729555
78signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.40729555
79protein targeting to membrane (GO:0006612)3.40017236
80signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.36219636
81signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.36219636
82signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.36219636
83signal transduction involved in DNA damage checkpoint (GO:0072422)3.36197052
84signal transduction involved in DNA integrity checkpoint (GO:0072401)3.36197052
85establishment of protein localization to mitochondrion (GO:0072655)3.35863476
86mitochondrial respiratory chain complex I assembly (GO:0032981)3.35551919
87NADH dehydrogenase complex assembly (GO:0010257)3.35551919
88mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.35551919
89positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.33776788
90establishment of viral latency (GO:0019043)3.33207940
91signal transduction involved in cell cycle checkpoint (GO:0072395)3.33178357
92purine nucleobase biosynthetic process (GO:0009113)3.32433957
93kinetochore organization (GO:0051383)3.32273357
94regulation of cellular amino acid metabolic process (GO:0006521)3.32036432
95ribosome assembly (GO:0042255)3.30992281
96protein localization to mitochondrion (GO:0070585)3.29884340
97protein deneddylation (GO:0000338)3.27549986
98nucleotide-excision repair, DNA gap filling (GO:0006297)3.27192171
99viral mRNA export from host cell nucleus (GO:0046784)3.26784754
100mitotic metaphase plate congression (GO:0007080)3.26657468
101kinetochore assembly (GO:0051382)3.25359010
102DNA damage response, detection of DNA damage (GO:0042769)3.24216067
103* RNA splicing, via transesterification reactions (GO:0000375)3.24143801
104telomere maintenance via telomere lengthening (GO:0010833)3.22946753
105* mRNA splicing, via spliceosome (GO:0000398)3.22301761
106* RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)3.22301761
107deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.19693697
108protein localization to kinetochore (GO:0034501)3.19646647
109positive regulation of ligase activity (GO:0051351)3.17952591
110transcription elongation from RNA polymerase I promoter (GO:0006362)3.17855874
111chaperone-mediated protein transport (GO:0072321)3.17451495
112DNA replication-independent nucleosome organization (GO:0034724)3.16172492
113DNA replication-independent nucleosome assembly (GO:0006336)3.16172492
114IMP biosynthetic process (GO:0006188)3.15404519
115regulation of ubiquitin-protein transferase activity (GO:0051438)3.14389403
116negative regulation of RNA splicing (GO:0033119)3.14211131
117DNA replication-dependent nucleosome organization (GO:0034723)3.13585928
118DNA replication-dependent nucleosome assembly (GO:0006335)3.13585928
119DNA ligation (GO:0006266)3.11904509
120inner mitochondrial membrane organization (GO:0007007)3.10245529
121protein localization to chromosome, centromeric region (GO:0071459)3.09009398
122nucleobase-containing small molecule interconversion (GO:0015949)3.05458152

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.72749081
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.79605113
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.12426532
4* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.05400320
5* EST1_17652178_ChIP-ChIP_JURKAT_Human3.92799168
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.77899169
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.58036060
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.57747334
9MYC_19079543_ChIP-ChIP_MESCs_Mouse3.45871640
10* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.44657428
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.36726859
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.30775988
13E2F4_17652178_ChIP-ChIP_JURKAT_Human3.26322412
14* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.19944891
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.14656881
16* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.05453963
17FOXM1_23109430_ChIP-Seq_U2OS_Human3.00138441
18* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.89401085
19* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.86813427
20XRN2_22483619_ChIP-Seq_HELA_Human2.86532839
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.66794147
22* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.54395829
23* VDR_23849224_ChIP-Seq_CD4+_Human2.45040279
24THAP11_20581084_ChIP-Seq_MESCs_Mouse2.36561344
25NELFA_20434984_ChIP-Seq_ESCs_Mouse2.34781659
26ELF1_17652178_ChIP-ChIP_JURKAT_Human2.34155303
27DCP1A_22483619_ChIP-Seq_HELA_Human2.33030677
28* TTF2_22483619_ChIP-Seq_HELA_Human2.23782434
29* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.21738873
30* FOXP3_21729870_ChIP-Seq_TREG_Human2.16385259
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.14900669
32ELK1_19687146_ChIP-ChIP_HELA_Human2.03744595
33GABP_19822575_ChIP-Seq_HepG2_Human2.03620806
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.99802621
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.96156739
36* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.90370429
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.88865223
38ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.80733637
39MYCN_18555785_ChIP-Seq_MESCs_Mouse1.76456932
40YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75832463
41PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.70170904
42SRF_21415370_ChIP-Seq_HL-1_Mouse1.65237833
43AR_21909140_ChIP-Seq_LNCAP_Human1.62384777
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.60142545
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58567861
46NANOG_18555785_ChIP-Seq_MESCs_Mouse1.57410927
47MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.57396104
48CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.53187507
49* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.52536001
50TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.50348419
51E2F1_21310950_ChIP-Seq_MCF-7_Human1.47790239
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.46261036
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45511110
54CIITA_25753668_ChIP-Seq_RAJI_Human1.43894135
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.41981554
56KDM5A_27292631_Chip-Seq_BREAST_Human1.37066205
57KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.35576382
58CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.31690886
59MYC_18940864_ChIP-ChIP_HL60_Human1.29849566
60ELK1_22589737_ChIP-Seq_MCF10A_Human1.25791626
61SOX2_18555785_ChIP-Seq_MESCs_Mouse1.23546662
62* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.22603187
63* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22226983
64CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.21199033
65FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.17361965
66* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.16470591
67* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13421414
68* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12517239
69HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.11423230
70ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08446478
71TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.06630078
72CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.06099939
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04967557
74POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.03517062
75SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.03051640
76TP63_19390658_ChIP-ChIP_HaCaT_Human1.01916214
77ESR1_15608294_ChIP-ChIP_MCF-7_Human0.99450953
78E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.98402868
79DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.98111755
80* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97810766
81DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.96602631
82NANOG_16153702_ChIP-ChIP_HESCs_Human0.96361767
83MYC_22102868_ChIP-Seq_BL_Human0.96070001
84* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.95968879
85SRY_22984422_ChIP-ChIP_TESTIS_Rat0.94671370
86CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92312674
87SOX2_18692474_ChIP-Seq_MEFs_Mouse0.90146554
88ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88687133
89STAT3_1855785_ChIP-Seq_MESCs_Mouse0.87373597
90TCF3_18692474_ChIP-Seq_MEFs_Mouse0.85850455
91KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.85429287
92SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.84926519
93SOX17_20123909_ChIP-Seq_XEN_Mouse0.83925091
94ZNF263_19887448_ChIP-Seq_K562_Human0.82881091
95RBPJ_22232070_ChIP-Seq_NCS_Mouse0.82592506
96TFEB_21752829_ChIP-Seq_HELA_Human0.82352063
97* SOX2_16153702_ChIP-ChIP_HESCs_Human0.81385302
98SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.80299573
99PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.78558423
100NANOG_21062744_ChIP-ChIP_HESCs_Human0.77809779
101CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.77766826
102CTCF_18555785_ChIP-Seq_MESCs_Mouse0.76095407
103FOXP1_21924763_ChIP-Seq_HESCs_Human0.74120576
104GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.74024898
105SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.74008252
106KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.73885025
107KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.73885025
108KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.73885025
109* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.73878245
110HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.72146308
111SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.71533239
112TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.70133714

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.24862680
2MP0004957_abnormal_blastocyst_morpholog4.89574043
3MP0003111_abnormal_nucleus_morphology4.08067733
4MP0010094_abnormal_chromosome_stability4.05939371
5MP0003077_abnormal_cell_cycle3.91917688
6MP0008057_abnormal_DNA_replication3.74872681
7MP0008932_abnormal_embryonic_tissue3.48330171
8MP0009379_abnormal_foot_pigmentation3.37019145
9MP0008058_abnormal_DNA_repair3.05007210
10MP0009697_abnormal_copulation2.77160705
11MP0003123_paternal_imprinting2.74086383
12MP0008007_abnormal_cellular_replicative2.59241404
13MP0001730_embryonic_growth_arrest2.31221384
14MP0003718_maternal_effect2.26224470
15MP0001529_abnormal_vocalization2.10790828
16MP0003806_abnormal_nucleotide_metabolis2.04478255
17MP0000350_abnormal_cell_proliferation2.02838458
18MP0003786_premature_aging1.98388607
19MP0010030_abnormal_orbit_morphology1.90764268
20MP0006292_abnormal_olfactory_placode1.70755327
21MP0001697_abnormal_embryo_size1.65610755
22MP0003136_yellow_coat_color1.64281693
23MP0003315_abnormal_perineum_morphology1.57686513
24MP0008877_abnormal_DNA_methylation1.55891886
25MP0004133_heterotaxia1.54851920
26MP0002085_abnormal_embryonic_tissue1.49391532
27MP0002938_white_spotting1.46925074
28MP0009333_abnormal_splenocyte_physiolog1.46699824
29MP0002080_prenatal_lethality1.46058742
30MP0003121_genomic_imprinting1.44276797
31MP0006035_abnormal_mitochondrial_morpho1.43501728
32MP0006036_abnormal_mitochondrial_physio1.42635440
33MP0005380_embryogenesis_phenotype1.41834500
34MP0001672_abnormal_embryogenesis/_devel1.41834500
35MP0002396_abnormal_hematopoietic_system1.36969174
36MP0003890_abnormal_embryonic-extraembry1.35636375
37MP0000372_irregular_coat_pigmentation1.34865384
38MP0002653_abnormal_ependyma_morphology1.33235735
39MP0000313_abnormal_cell_death1.31186896
40MP0010307_abnormal_tumor_latency1.27641291
41MP0008789_abnormal_olfactory_epithelium1.27558078
42MP0002084_abnormal_developmental_patter1.26301902
43MP0003567_abnormal_fetal_cardiomyocyte1.24239907
44MP0003984_embryonic_growth_retardation1.19981501
45MP0002102_abnormal_ear_morphology1.19521559
46MP0008995_early_reproductive_senescence1.19410884
47MP0003186_abnormal_redox_activity1.19294590
48MP0002088_abnormal_embryonic_growth/wei1.18101456
49MP0002751_abnormal_autonomic_nervous1.16955003
50MP0000490_abnormal_crypts_of1.15454946
51MP0003938_abnormal_ear_development1.14010480
52MP0002697_abnormal_eye_size1.12379471
53MP0002234_abnormal_pharynx_morphology1.11890804
54MP0000358_abnormal_cell_content/1.11367693
55MP0001727_abnormal_embryo_implantation1.08947528
56MP0002019_abnormal_tumor_incidence1.07536794
57MP0000049_abnormal_middle_ear1.05172264
58MP0002163_abnormal_gland_morphology1.05027512
59MP0002210_abnormal_sex_determination1.04898280
60MP0002160_abnormal_reproductive_system1.03470199
61MP0001881_abnormal_mammary_gland1.02941473
62MP0004197_abnormal_fetal_growth/weight/1.01024707
63MP0009053_abnormal_anal_canal1.00772766
64MP0001905_abnormal_dopamine_level1.00405635
65MP0000750_abnormal_muscle_regeneration0.99823203
66MP0001986_abnormal_taste_sensitivity0.99222428
67MP0000566_synostosis0.99124810
68MP0001293_anophthalmia0.98333337
69MP0002132_abnormal_respiratory_system0.94093175
70MP0002277_abnormal_respiratory_mucosa0.92559459
71MP0003937_abnormal_limbs/digits/tail_de0.91945831
72MP0005501_abnormal_skin_physiology0.90494132
73MP0001145_abnormal_male_reproductive0.89446602
74MP0005394_taste/olfaction_phenotype0.89139900
75MP0005499_abnormal_olfactory_system0.89139900
76MP0001346_abnormal_lacrimal_gland0.89117815
77MP0002086_abnormal_extraembryonic_tissu0.88746225
78MP0001485_abnormal_pinna_reflex0.88264198
79MP0000703_abnormal_thymus_morphology0.87764850
80MP0002111_abnormal_tail_morphology0.86283222
81MP0005084_abnormal_gallbladder_morpholo0.82493453
82MP0005408_hypopigmentation0.82113052
83MP0003119_abnormal_digestive_system0.81895509
84MP0003122_maternal_imprinting0.80573906
85MP0000537_abnormal_urethra_morphology0.80181012
86MP0002736_abnormal_nociception_after0.79389576
87MP0001764_abnormal_homeostasis0.78481398
88MP0003861_abnormal_nervous_system0.78214399
89MP0003221_abnormal_cardiomyocyte_apopto0.76999548
90MP0005389_reproductive_system_phenotype0.75960781
91MP0000653_abnormal_sex_gland0.75314563
92MP0004142_abnormal_muscle_tone0.72788981
93MP0001286_abnormal_eye_development0.72311971
94MP0003941_abnormal_skin_development0.72218979
95MP0003755_abnormal_palate_morphology0.70889122
96MP0001661_extended_life_span0.69882000
97MP0003763_abnormal_thymus_physiology0.69242501
98MP0002233_abnormal_nose_morphology0.69206411
99MP0001119_abnormal_female_reproductive0.67969167
100MP0002796_impaired_skin_barrier0.66786786
101MP0001929_abnormal_gametogenesis0.66470515
102MP0005395_other_phenotype0.65993647
103MP0002722_abnormal_immune_system0.65065759
104MP0002282_abnormal_trachea_morphology0.64586310
105MP0005423_abnormal_somatic_nervous0.63720147
106MP0006072_abnormal_retinal_apoptosis0.63343489
107MP0002114_abnormal_axial_skeleton0.63293434
108MP0002932_abnormal_joint_morphology0.63272231
109MP0001188_hyperpigmentation0.63070551
110MP0000858_altered_metastatic_potential0.62699868
111MP0000678_abnormal_parathyroid_gland0.61920083
112MP0005384_cellular_phenotype0.61904006
113MP0000627_abnormal_mammary_gland0.60302069
114MP0005330_cardiomyopathy0.59781885
115MP0005379_endocrine/exocrine_gland_phen0.59295883
116MP0002092_abnormal_eye_morphology0.58988866
117MP0004808_abnormal_hematopoietic_stem0.58814054
118MP0000631_abnormal_neuroendocrine_gland0.58661056
119MP0002398_abnormal_bone_marrow0.58510585
120MP0002249_abnormal_larynx_morphology0.58335878
121MP0005075_abnormal_melanosome_morpholog0.58053649
122MP0009672_abnormal_birth_weight0.58018789
123MP0005266_abnormal_metabolism0.56505476
124MP0003942_abnormal_urinary_system0.56433669
125MP0000762_abnormal_tongue_morphology0.54014361
126MP0001853_heart_inflammation0.54014155
127MP0002161_abnormal_fertility/fecundity0.53931427
128MP0009250_abnormal_appendicular_skeleto0.53651190
129MP0003699_abnormal_female_reproductive0.51481094

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.92536062
2Reticulocytopenia (HP:0001896)5.60630725
3Abnormal number of erythroid precursors (HP:0012131)5.39271581
4Macrocytic anemia (HP:0001972)4.41589828
5Acute necrotizing encephalopathy (HP:0006965)4.19825882
6Mitochondrial inheritance (HP:0001427)3.92389506
7Cerebral hypomyelination (HP:0006808)3.89829129
8Abnormality of glycolysis (HP:0004366)3.88336387
9Increased serum pyruvate (HP:0003542)3.88336387
10Pallor (HP:0000980)3.83665064
11Abnormal mitochondria in muscle tissue (HP:0008316)3.75250161
12Breast hypoplasia (HP:0003187)3.68299904
13Birth length less than 3rd percentile (HP:0003561)3.64487517
14Hepatocellular necrosis (HP:0001404)3.62778786
15Increased CSF lactate (HP:0002490)3.58366311
16Oral leukoplakia (HP:0002745)3.46065830
17Increased hepatocellular lipid droplets (HP:0006565)3.44286551
18Aplasia/Hypoplasia of the sacrum (HP:0008517)3.30531777
19Progressive macrocephaly (HP:0004481)3.29235806
20Acute encephalopathy (HP:0006846)3.25766660
21Patellar aplasia (HP:0006443)3.21721705
22Aplastic anemia (HP:0001915)3.09563320
23Rough bone trabeculation (HP:0100670)3.06630826
24Aplasia/Hypoplasia of the patella (HP:0006498)3.04262206
25Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.00282434
26Increased muscle lipid content (HP:0009058)2.92532352
27Hepatic necrosis (HP:0002605)2.89991424
28Lipid accumulation in hepatocytes (HP:0006561)2.89235337
29Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.86393862
30Decreased activity of mitochondrial respiratory chain (HP:0008972)2.86393862
31Increased serum lactate (HP:0002151)2.85886291
32Type I transferrin isoform profile (HP:0003642)2.77767419
33Colon cancer (HP:0003003)2.77515961
34Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.73811110
35Carpal bone hypoplasia (HP:0001498)2.73790319
36Megaloblastic anemia (HP:0001889)2.71927632
373-Methylglutaconic aciduria (HP:0003535)2.69298200
38Multiple enchondromatosis (HP:0005701)2.62234352
39Renal Fanconi syndrome (HP:0001994)2.60458306
40Abnormality of the labia minora (HP:0012880)2.56669795
41Abnormality of methionine metabolism (HP:0010901)2.55145690
42Exertional dyspnea (HP:0002875)2.53608588
43Meckel diverticulum (HP:0002245)2.50781679
44Absent radius (HP:0003974)2.47529469
45Progressive muscle weakness (HP:0003323)2.46835965
46Respiratory failure (HP:0002878)2.46383926
47Trismus (HP:0000211)2.45510714
48Absent thumb (HP:0009777)2.44771842
49Premature graying of hair (HP:0002216)2.43930202
50Abnormality of the ileum (HP:0001549)2.41959122
51Leukodystrophy (HP:0002415)2.41725815
52Exercise intolerance (HP:0003546)2.40970834
53Horseshoe kidney (HP:0000085)2.35569973
54Increased intramyocellular lipid droplets (HP:0012240)2.35148966
55Selective tooth agenesis (HP:0001592)2.34493494
56Abnormality of the preputium (HP:0100587)2.34445002
57Aplasia involving forearm bones (HP:0009822)2.34166678
58Absent forearm bone (HP:0003953)2.34166678
59Sparse eyelashes (HP:0000653)2.33687961
60Degeneration of anterior horn cells (HP:0002398)2.32202236
61Abnormality of the anterior horn cell (HP:0006802)2.32202236
62Reduced antithrombin III activity (HP:0001976)2.31864306
63Abnormal number of incisors (HP:0011064)2.31383428
64Lethargy (HP:0001254)2.30690268
65Microretrognathia (HP:0000308)2.30219377
66Triphalangeal thumb (HP:0001199)2.29230193
67Chromsome breakage (HP:0040012)2.27556897
68Respiratory difficulties (HP:0002880)2.26945587
69Chromosomal breakage induced by crosslinking agents (HP:0003221)2.21771728
70Emotional lability (HP:0000712)2.17919216
71Abnormal trabecular bone morphology (HP:0100671)2.17634240
72Facial cleft (HP:0002006)2.16068423
73Abnormal lung lobation (HP:0002101)2.14828184
74CNS hypomyelination (HP:0003429)2.14732048
75Medulloblastoma (HP:0002885)2.14171190
76Abnormal protein glycosylation (HP:0012346)2.13271303
77Abnormal glycosylation (HP:0012345)2.13271303
78Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.13271303
79Abnormal protein N-linked glycosylation (HP:0012347)2.13271303
80Secondary amenorrhea (HP:0000869)2.12465434
81Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.10885590
82Abnormal hemoglobin (HP:0011902)2.10843244
83Cellular immunodeficiency (HP:0005374)2.10040408
84Lactic acidosis (HP:0003128)2.09758831
85Depressed nasal ridge (HP:0000457)2.08383664
86Supernumerary spleens (HP:0009799)2.08124649
87Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.02554533
88Testicular atrophy (HP:0000029)2.02151936
89Hypoplasia of the capital femoral epiphysis (HP:0003090)2.01791073
90Cleft eyelid (HP:0000625)2.01694972
91Abnormality of serum amino acid levels (HP:0003112)2.01372105
92Cerebral edema (HP:0002181)2.00242953
93Neoplasm of the pancreas (HP:0002894)1.99456563
9411 pairs of ribs (HP:0000878)1.97574213
95Bone marrow hypocellularity (HP:0005528)1.97388574
96Pancytopenia (HP:0001876)1.95395488
97Atresia of the external auditory canal (HP:0000413)1.94842792
98CNS demyelination (HP:0007305)1.94609017
99Aplasia/Hypoplasia of the uvula (HP:0010293)1.94014602
100Asplenia (HP:0001746)1.93867749
101Hyperalaninemia (HP:0003348)1.92840594
102Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.92840594
103Abnormality of alanine metabolism (HP:0010916)1.92840594
104Abnormality of renal resorption (HP:0011038)1.92798854
105Hyperglycinemia (HP:0002154)1.92188930
106Abnormality of chromosome stability (HP:0003220)1.91704263
107Gout (HP:0001997)1.91553888
108Glossoptosis (HP:0000162)1.90340557
109Abnormality of reticulocytes (HP:0004312)1.88654528
110Abnormality of aspartate family amino acid metabolism (HP:0010899)1.88552128
111Duplicated collecting system (HP:0000081)1.88210454
112Premature ovarian failure (HP:0008209)1.88134818
113Optic disc pallor (HP:0000543)1.87725378
114Irregular epiphyses (HP:0010582)1.85395882
115Hypoplasia of the radius (HP:0002984)1.85378065
116Aplasia/Hypoplasia of the spleen (HP:0010451)1.85166460
117Myelodysplasia (HP:0002863)1.85083065
118Stenosis of the external auditory canal (HP:0000402)1.84862179
119Methylmalonic acidemia (HP:0002912)1.83719671
120Duodenal stenosis (HP:0100867)1.82943044
121Small intestinal stenosis (HP:0012848)1.82943044
122Amniotic constriction ring (HP:0009775)1.80599719
123Abnormality of placental membranes (HP:0011409)1.80599719
124Tracheoesophageal fistula (HP:0002575)1.78406721
125Postnatal microcephaly (HP:0005484)1.78313225
126Generalized aminoaciduria (HP:0002909)1.77808480
127Microvesicular hepatic steatosis (HP:0001414)1.77709395
128Methylmalonic aciduria (HP:0012120)1.76791648
129Hypoglycemic coma (HP:0001325)1.74498601
130Abnormality of urine glucose concentration (HP:0011016)1.74109836
131Glycosuria (HP:0003076)1.74109836
132Bilateral microphthalmos (HP:0007633)1.71529346
133Congenital, generalized hypertrichosis (HP:0004540)1.69685484
134Hyperphosphaturia (HP:0003109)1.69435170
135X-linked dominant inheritance (HP:0001423)1.68145031

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.19037980
2VRK25.15256429
3WEE13.63614872
4NME23.58445346
5EIF2AK13.51763106
6SRPK13.13775273
7CDC73.10462736
8STK163.00397767
9TESK22.70381297
10TSSK62.61980202
11ZAK2.45055085
12MKNK12.33503548
13VRK12.16167808
14NEK12.08038150
15TLK12.03869243
16NME12.03784645
17TAF11.92512248
18EIF2AK31.92375348
19PIM21.75222504
20LIMK11.71099911
21CDK191.70905529
22PLK11.60041515
23MKNK21.59706069
24RPS6KB21.58096888
25PLK41.55436414
26PBK1.53272652
27TTK1.47273978
28NUAK11.45002891
29MST41.44834200
30CDK71.44471482
31PASK1.43722573
32PDK21.43651713
33AURKA1.39817557
34PLK31.39692565
35NEK21.36163707
36DYRK31.35849401
37BRSK21.34950657
38AURKB1.32946920
39CCNB11.23924615
40ACVR1B1.21150971
41DYRK21.19278871
42BRSK11.17118433
43TESK11.16904671
44PNCK1.16536264
45CDK81.11460135
46BCKDK1.10474105
47ATR1.06159756
48SMG11.00037731
49BRAF0.99077159
50PAK40.94847607
51CHEK10.94410783
52CSNK2A20.93239746
53CHEK20.91540069
54UHMK10.91159438
55MAP3K110.88678448
56BCR0.87710597
57TRIM280.86278294
58CSNK2A10.85195423
59PAK10.85114758
60MAP3K120.85057397
61MAP3K80.83884040
62LRRK20.80567286
63ILK0.79344094
64KDR0.78540923
65CASK0.77574302
66SCYL20.75229974
67EEF2K0.71515979
68RPS6KA40.67561134
69ABL20.65607839
70CDK40.64571727
71CDK20.63429025
72CLK10.63093016
73TGFBR10.62521759
74CSNK1G30.61009717
75TNIK0.60063500
76CDK11A0.59892708
77EIF2AK20.58785006
78CDK140.58560402
79CDK180.56660806
80ALK0.56613018
81CDK150.54859779
82EPHA20.54576532
83CDK10.54349611
84MAP3K100.52735884
85PRKCI0.51756779
86MAP4K20.51727078
87CSNK1E0.50296141
88ATM0.49089216
89ARAF0.48860169
90STK40.46888768
91CSNK1G20.44909337
92RPS6KA50.44178503
93LATS20.42325665
94CSNK1A1L0.42269978
95STK100.38292937
96OXSR10.37739696
97DAPK10.37411150
98PIM10.37048553
99BMPR1B0.36655751
100MYLK0.31355778
101GRK60.30456941
102DAPK30.29857384
103STK390.29523875
104WNK30.28950968
105MAPKAPK30.28421495
106YES10.28302831
107CDK30.28169482
108ROCK20.26985024
109PRKDC0.26493465
110STK240.25598934
111MAP4K10.25174453
112STK30.24812502
113RPS6KC10.24184027
114RPS6KL10.24184027
115FGFR10.24147597
116CDK90.24069914
117CSNK1A10.23178190
118MAPKAPK50.23166669
119ERBB40.22984835
120STK38L0.22280524
121CSNK1G10.22055644
122AKT20.19902657
123RPS6KA60.17382600
124AKT30.16882513
125ADRBK10.16498649
126LYN0.15820004
127BLK0.15648562

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.63897105
2Proteasome_Homo sapiens_hsa030504.50143839
3DNA replication_Homo sapiens_hsa030304.19526563
4RNA polymerase_Homo sapiens_hsa030203.95281144
5* Spliceosome_Homo sapiens_hsa030403.66111661
6Mismatch repair_Homo sapiens_hsa034303.55932884
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.35381379
8RNA transport_Homo sapiens_hsa030132.80621311
9Nucleotide excision repair_Homo sapiens_hsa034202.72298916
10Oxidative phosphorylation_Homo sapiens_hsa001902.65586797
11Pyrimidine metabolism_Homo sapiens_hsa002402.57651756
12Homologous recombination_Homo sapiens_hsa034402.54696017
13Parkinsons disease_Homo sapiens_hsa050122.50829112
14Base excision repair_Homo sapiens_hsa034102.49775403
15One carbon pool by folate_Homo sapiens_hsa006702.02649641
16Cell cycle_Homo sapiens_hsa041102.01345166
17Huntingtons disease_Homo sapiens_hsa050162.01172894
18Basal transcription factors_Homo sapiens_hsa030221.91663609
19Protein export_Homo sapiens_hsa030601.86077985
20RNA degradation_Homo sapiens_hsa030181.85273850
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.83287488
22Fanconi anemia pathway_Homo sapiens_hsa034601.79097314
23Alzheimers disease_Homo sapiens_hsa050101.58448522
24mRNA surveillance pathway_Homo sapiens_hsa030151.46735965
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.39701552
26Non-homologous end-joining_Homo sapiens_hsa034501.38784937
27Purine metabolism_Homo sapiens_hsa002301.38291757
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.34140555
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.11230529
30Epstein-Barr virus infection_Homo sapiens_hsa051691.10638970
31p53 signaling pathway_Homo sapiens_hsa041150.96718918
32Cyanoamino acid metabolism_Homo sapiens_hsa004600.95729912
33Sulfur relay system_Homo sapiens_hsa041220.95113825
34Propanoate metabolism_Homo sapiens_hsa006400.91609145
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81578818
36Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.80232569
37Pentose phosphate pathway_Homo sapiens_hsa000300.76326969
38Oocyte meiosis_Homo sapiens_hsa041140.75742474
39Selenocompound metabolism_Homo sapiens_hsa004500.75570069
40Cardiac muscle contraction_Homo sapiens_hsa042600.75468114
41Cysteine and methionine metabolism_Homo sapiens_hsa002700.74086807
42Folate biosynthesis_Homo sapiens_hsa007900.72040515
43Biosynthesis of amino acids_Homo sapiens_hsa012300.71744075
44Glutathione metabolism_Homo sapiens_hsa004800.69226750
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.64278333
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.63420558
47Sulfur metabolism_Homo sapiens_hsa009200.62106903
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62095609
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.60840786
50Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57778752
51Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52965543
52Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.52006687
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49794136
54Peroxisome_Homo sapiens_hsa041460.49010443
55Carbon metabolism_Homo sapiens_hsa012000.46644198
56Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.46182829
57Vitamin B6 metabolism_Homo sapiens_hsa007500.45131545
58Metabolic pathways_Homo sapiens_hsa011000.44579339
59Drug metabolism - other enzymes_Homo sapiens_hsa009830.41293265
60Viral carcinogenesis_Homo sapiens_hsa052030.41019438
61Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40735459
62* Systemic lupus erythematosus_Homo sapiens_hsa053220.39948438
63Herpes simplex infection_Homo sapiens_hsa051680.38295878
64Vitamin digestion and absorption_Homo sapiens_hsa049770.37428543
65Fatty acid elongation_Homo sapiens_hsa000620.36868727
66Primary immunodeficiency_Homo sapiens_hsa053400.36537401
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.35930819
68Antigen processing and presentation_Homo sapiens_hsa046120.35118437
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.34753339
70Fatty acid metabolism_Homo sapiens_hsa012120.34481456
71Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34260178
72HTLV-I infection_Homo sapiens_hsa051660.34200403
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33867563
74Galactose metabolism_Homo sapiens_hsa000520.33281199
75Steroid biosynthesis_Homo sapiens_hsa001000.32969758
76Tyrosine metabolism_Homo sapiens_hsa003500.31809302
77Fatty acid degradation_Homo sapiens_hsa000710.30681472
78Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30599827
79Arginine and proline metabolism_Homo sapiens_hsa003300.29677625
80Basal cell carcinoma_Homo sapiens_hsa052170.28754791
81Butanoate metabolism_Homo sapiens_hsa006500.27850530
82Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.25913315
83Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.25097449
84Shigellosis_Homo sapiens_hsa051310.23226430
85Hedgehog signaling pathway_Homo sapiens_hsa043400.22574934
86Chemical carcinogenesis_Homo sapiens_hsa052040.21873091
87Arachidonic acid metabolism_Homo sapiens_hsa005900.21599217
88beta-Alanine metabolism_Homo sapiens_hsa004100.20818193
89Arginine biosynthesis_Homo sapiens_hsa002200.19486333
90Pyruvate metabolism_Homo sapiens_hsa006200.18495912
91Thyroid cancer_Homo sapiens_hsa052160.16957200
92Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.16718259
93Alcoholism_Homo sapiens_hsa050340.16255037
94Hippo signaling pathway_Homo sapiens_hsa043900.16169033
95Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.15053214
96MicroRNAs in cancer_Homo sapiens_hsa052060.14179716
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.12634534
98Tryptophan metabolism_Homo sapiens_hsa003800.12558378
99TGF-beta signaling pathway_Homo sapiens_hsa043500.12180594
100Vibrio cholerae infection_Homo sapiens_hsa051100.10400108
101Retinol metabolism_Homo sapiens_hsa008300.10166193
102Colorectal cancer_Homo sapiens_hsa052100.10045530
103Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.09923639
104Legionellosis_Homo sapiens_hsa051340.09833349
105N-Glycan biosynthesis_Homo sapiens_hsa005100.09217818
106Fructose and mannose metabolism_Homo sapiens_hsa000510.09105202
107Maturity onset diabetes of the young_Homo sapiens_hsa049500.09018886
108Autoimmune thyroid disease_Homo sapiens_hsa053200.08876444
109Bladder cancer_Homo sapiens_hsa052190.07870209
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.07743318
111Collecting duct acid secretion_Homo sapiens_hsa049660.07203789
112Allograft rejection_Homo sapiens_hsa053300.05504726
113Notch signaling pathway_Homo sapiens_hsa043300.05128678
114Fat digestion and absorption_Homo sapiens_hsa049750.05074004
115Caffeine metabolism_Homo sapiens_hsa002320.04472615
116Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.04310363
117Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.04161995
118Ether lipid metabolism_Homo sapiens_hsa005650.04143345
119Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.03674057
120Asthma_Homo sapiens_hsa053100.03643581
121Linoleic acid metabolism_Homo sapiens_hsa005910.03058457
122Wnt signaling pathway_Homo sapiens_hsa043100.02916554
123Phenylalanine metabolism_Homo sapiens_hsa003600.02557280
124Steroid hormone biosynthesis_Homo sapiens_hsa001400.02049743
125Apoptosis_Homo sapiens_hsa042100.01553166
126Pathways in cancer_Homo sapiens_hsa052000.00890063
127HIF-1 signaling pathway_Homo sapiens_hsa04066-0.0031115
128Tight junction_Homo sapiens_hsa04530-0.0016828
129Phototransduction_Homo sapiens_hsa04744-0.0015888

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