SRSF1

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 member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.92345675
2nuclear pore complex assembly (GO:0051292)5.40085096
3nuclear pore organization (GO:0006999)5.29964706
4protein localization to kinetochore (GO:0034501)5.26980297
5establishment of integrated proviral latency (GO:0075713)4.90881601
6mitotic sister chromatid cohesion (GO:0007064)4.79030227
7regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.75468791
8mitotic chromosome condensation (GO:0007076)4.51386934
9sister chromatid segregation (GO:0000819)4.42075595
10protein localization to chromosome, centromeric region (GO:0071459)4.41990376
11negative regulation of mRNA splicing, via spliceosome (GO:0048025)4.39888939
12pre-miRNA processing (GO:0031054)4.29139238
13regulation of RNA export from nucleus (GO:0046831)4.28883758
14regulation of histone H3-K9 methylation (GO:0051570)4.20258413
15DNA duplex unwinding (GO:0032508)4.13562536
16negative regulation of histone methylation (GO:0031061)4.11749430
17DNA geometric change (GO:0032392)4.10488389
18negative regulation of RNA splicing (GO:0033119)4.09292076
19DNA replication-dependent nucleosome organization (GO:0034723)4.08364477
20DNA replication-dependent nucleosome assembly (GO:0006335)4.08364477
21formation of translation preinitiation complex (GO:0001731)4.06101739
22mitotic nuclear envelope disassembly (GO:0007077)4.02686709
23ribosome assembly (GO:0042255)4.00674752
24pore complex assembly (GO:0046931)3.99101572
25regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.96769975
26regulation of sister chromatid cohesion (GO:0007063)3.96549508
27dosage compensation (GO:0007549)3.95001709
28protein complex localization (GO:0031503)3.92444342
29negative regulation of mRNA processing (GO:0050686)3.90293017
30mitotic sister chromatid segregation (GO:0000070)3.87538709
31DNA topological change (GO:0006265)3.85642135
32nuclear envelope disassembly (GO:0051081)3.84465978
33membrane disassembly (GO:0030397)3.84465978
34DNA ligation (GO:0006266)3.82397771
35non-recombinational repair (GO:0000726)3.81241822
36double-strand break repair via nonhomologous end joining (GO:0006303)3.81241822
37DNA replication initiation (GO:0006270)3.80055146
38chromatin assembly (GO:0031497)3.74235705
39establishment of viral latency (GO:0019043)3.73035732
40cellular protein complex localization (GO:0034629)3.68755799
41kinetochore organization (GO:0051383)3.67278899
42mitotic metaphase plate congression (GO:0007080)3.65332834
43heterochromatin organization (GO:0070828)3.64048315
44DNA strand elongation involved in DNA replication (GO:0006271)3.62562798
45translesion synthesis (GO:0019985)3.61792613
46chromatin assembly or disassembly (GO:0006333)3.60193981
47folic acid-containing compound biosynthetic process (GO:0009396)3.58331792
48negative regulation of mRNA metabolic process (GO:1903312)3.57422570
49positive regulation of chromosome segregation (GO:0051984)3.56216695
50IMP biosynthetic process (GO:0006188)3.48341560
51RNA stabilization (GO:0043489)3.45664159
52mRNA stabilization (GO:0048255)3.45664159
53DNA strand elongation (GO:0022616)3.44336822
54protein localization to chromosome (GO:0034502)3.42148342
55regulation of spindle organization (GO:0090224)3.42105825
56DNA replication-independent nucleosome organization (GO:0034724)3.40515719
57DNA replication-independent nucleosome assembly (GO:0006336)3.40515719
58metaphase plate congression (GO:0051310)3.37581154
59alternative mRNA splicing, via spliceosome (GO:0000380)3.36974788
60peptidyl-lysine dimethylation (GO:0018027)3.36814961
61DNA conformation change (GO:0071103)3.36506388
62peptidyl-arginine omega-N-methylation (GO:0035247)3.34405984
63chromatin remodeling at centromere (GO:0031055)3.34210089
64regulation of nucleobase-containing compound transport (GO:0032239)3.33686017
65positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.28342032
66positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.28342032
67positive regulation of mitotic sister chromatid separation (GO:1901970)3.28342032
68mitotic recombination (GO:0006312)3.25076922
69regulation of translational fidelity (GO:0006450)3.24227127
70chromosome condensation (GO:0030261)3.23983278
71histone H2A monoubiquitination (GO:0035518)3.22960919
72spliceosomal tri-snRNP complex assembly (GO:0000244)3.22518248
73CENP-A containing nucleosome assembly (GO:0034080)3.22206245
74ATP-dependent chromatin remodeling (GO:0043044)3.22075673
75regulation of translational termination (GO:0006449)3.21565056
76regulation of chromosome segregation (GO:0051983)3.20074826
77V(D)J recombination (GO:0033151)3.19380292
78positive regulation of cell cycle checkpoint (GO:1901978)3.19289124
79negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.15573139
80negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.15573139
81negative regulation of mitotic sister chromatid separation (GO:2000816)3.15573139
82DNA replication checkpoint (GO:0000076)3.14377591
83regulation of centriole replication (GO:0046599)3.12623338
84regulation of centrosome cycle (GO:0046605)3.11530222
85glucocorticoid receptor signaling pathway (GO:0042921)3.09991173
86nuclear envelope organization (GO:0006998)3.09976729
87regulation of DNA endoreduplication (GO:0032875)3.09843729
88regulation of mitotic spindle organization (GO:0060236)3.09016363
89telomere maintenance via semi-conservative replication (GO:0032201)3.07329145
90IMP metabolic process (GO:0046040)3.06963797
91regulation of helicase activity (GO:0051095)3.04144600
92regulation of sister chromatid segregation (GO:0033045)3.03086933
93regulation of mitotic sister chromatid separation (GO:0010965)3.03086933
94regulation of mitotic sister chromatid segregation (GO:0033047)3.03086933
95negative regulation of DNA repair (GO:0045738)3.01749352
96histone exchange (GO:0043486)3.01429733
97monoubiquitinated protein deubiquitination (GO:0035520)3.01290797
98attachment of spindle microtubules to kinetochore (GO:0008608)3.01247166
99DNA synthesis involved in DNA repair (GO:0000731)3.01221131
100viral mRNA export from host cell nucleus (GO:0046784)3.00117190
101histone arginine methylation (GO:0034969)2.97683181
102nucleosome disassembly (GO:0006337)2.97201618
103protein-DNA complex disassembly (GO:0032986)2.97201618
104purine nucleobase biosynthetic process (GO:0009113)2.96714187
105spindle checkpoint (GO:0031577)2.96489614
106establishment of chromosome localization (GO:0051303)2.95953672
107postreplication repair (GO:0006301)2.93347489
108spindle assembly checkpoint (GO:0071173)2.92309416
109regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.91820179
110regulation of mitotic metaphase/anaphase transition (GO:0030071)2.91301280
111* mRNA splicing, via spliceosome (GO:0000398)2.91281401
112* RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)2.91281401
113* mRNA transport (GO:0051028)2.90088230
114* RNA splicing, via transesterification reactions (GO:0000375)2.87312594
115regulation of DNA damage checkpoint (GO:2000001)2.86966082
116DNA packaging (GO:0006323)2.86820781
117telomere maintenance via recombination (GO:0000722)2.86667941
118negative regulation of chromosome segregation (GO:0051985)2.86574140
119chromosome segregation (GO:0007059)2.86078231
120mitotic spindle assembly checkpoint (GO:0007094)2.82822640
121regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.82675197
122mitotic spindle checkpoint (GO:0071174)2.82659860
123negative regulation of sister chromatid segregation (GO:0033046)2.82381225
124negative regulation of mitotic sister chromatid segregation (GO:0033048)2.82381225

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human6.16975792
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.55927648
3EGR1_19374776_ChIP-ChIP_THP-1_Human3.69305489
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.43957193
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.40457400
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.39632106
7KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.95065649
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.75818740
9MYC_22102868_ChIP-Seq_BL_Human2.75766202
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.67598581
11AR_21909140_ChIP-Seq_LNCAP_Human2.55796440
12E2F1_21310950_ChIP-Seq_MCF-7_Human2.54762994
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.31249780
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.27226370
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.22671174
16NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.14726937
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.08074547
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.00706817
19E2F7_22180533_ChIP-Seq_HELA_Human11.1225561
20RBPJ_22232070_ChIP-Seq_NCS_Mouse1.97791825
21XRN2_22483619_ChIP-Seq_HELA_Human1.92716643
22CIITA_25753668_ChIP-Seq_RAJI_Human1.89572673
23TP63_19390658_ChIP-ChIP_HaCaT_Human1.82250728
24MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.81769185
25MYCN_18555785_ChIP-Seq_MESCs_Mouse1.78387394
26JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.78341217
27MYC_18358816_ChIP-ChIP_MESCs_Mouse1.68301304
28SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.66878691
29ZFX_18555785_ChIP-Seq_MESCs_Mouse1.57977368
30* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54630056
31PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53870089
32ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.53770310
33POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.53105444
34KDM5A_27292631_Chip-Seq_BREAST_Human1.52567358
35HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.49616953
36CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.46105364
37ESR1_15608294_ChIP-ChIP_MCF-7_Human1.45572188
38GABP_17652178_ChIP-ChIP_JURKAT_Human1.45507517
39ELF1_17652178_ChIP-ChIP_JURKAT_Human1.41869134
40SOX2_18555785_ChIP-Seq_MESCs_Mouse1.40202924
41TTF2_22483619_ChIP-Seq_HELA_Human1.38759024
42VDR_21846776_ChIP-Seq_THP-1_Human1.37209849
43HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.34765666
44VDR_23849224_ChIP-Seq_CD4+_Human1.32603224
45CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.32022421
46CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.31948679
47FOXP3_21729870_ChIP-Seq_TREG_Human1.30123474
48ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.28984675
49NANOG_21062744_ChIP-ChIP_HESCs_Human1.26119634
50SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.25921029
51TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.25542210
52SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.25309492
53ELK1_19687146_ChIP-ChIP_HELA_Human1.24547216
54EST1_17652178_ChIP-ChIP_JURKAT_Human1.23147051
55KLF4_18555785_ChIP-Seq_MESCs_Mouse1.22835848
56CREB1_15753290_ChIP-ChIP_HEK293T_Human1.22690319
57PKCTHETA_26484144_Chip-Seq_BREAST_Human1.22532283
58PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20459155
59ETS1_20019798_ChIP-Seq_JURKAT_Human1.20248852
60DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.19345889
61NANOG_18555785_ChIP-Seq_MESCs_Mouse1.18901677
62CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18795661
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.18380544
64TCF7_22412390_ChIP-Seq_EML_Mouse1.18345168
65CHD1_26751641_Chip-Seq_LNCaP_Human1.17044767
66POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.15232276
67E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.14672400
68GABP_19822575_ChIP-Seq_HepG2_Human1.11968215
69KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10944776
70TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.10557427
71ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.10140212
72TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08813377
73CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.08319629
74PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.07895066
75KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.07686337
76E2F1_18555785_ChIP-Seq_MESCs_Mouse1.06201363
77ZNF263_19887448_ChIP-Seq_K562_Human1.04841109
78KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.04728920
79HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.02110989
80DCP1A_22483619_ChIP-Seq_HELA_Human1.02044547
81MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01280996
82CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.01202969
83ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.01030055
84TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.00763780
85KDM2B_26808549_Chip-Seq_DND41_Human1.00225835
86NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.98613132
87SOX17_20123909_ChIP-Seq_XEN_Mouse0.98525952
88HOXB4_20404135_ChIP-ChIP_EML_Mouse0.96054682
89TFEB_21752829_ChIP-Seq_HELA_Human0.95810234
90YY1_21170310_ChIP-Seq_MESCs_Mouse0.95527739
91STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95077497
92UTX_26944678_Chip-Seq_JUKART_Human0.94870715
93DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94262551
94NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.93109476
95ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93073098
96CLOCK_20551151_ChIP-Seq_293T_Human0.92569008
97KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.92520244
98FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.92420908
99SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.92108855
100TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91599860
101SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89673902
102* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.89476266
103THAP11_20581084_ChIP-Seq_MESCs_Mouse0.89433679
104TCF3_18692474_ChIP-Seq_MEFs_Mouse0.88695153
105FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.88621935
106GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87712326
107SOX2_16153702_ChIP-ChIP_HESCs_Human0.86897529
108TCF3_18692474_ChIP-Seq_MESCs_Mouse0.85472182
109BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.85409977
110STAT6_21828071_ChIP-Seq_BEAS2B_Human0.83157918
111ERG_20887958_ChIP-Seq_HPC-7_Mouse0.81757399
112ZFP281_18757296_ChIP-ChIP_E14_Mouse0.81424584
113POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.81360881
114DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.80364452
115KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.78208232
116SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.77173402
117ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.76578755
118SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75679335

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability3.89008259
2MP0003111_abnormal_nucleus_morphology3.75818294
3MP0003693_abnormal_embryo_hatching3.67610931
4MP0004957_abnormal_blastocyst_morpholog3.36535643
5MP0003077_abnormal_cell_cycle3.22904606
6MP0008057_abnormal_DNA_replication3.15144240
7MP0003123_paternal_imprinting3.04395521
8MP0010352_gastrointestinal_tract_polyps2.90228387
9MP0002009_preneoplasia2.67098697
10MP0003705_abnormal_hypodermis_morpholog2.58278069
11MP0000537_abnormal_urethra_morphology2.49736819
12MP0005076_abnormal_cell_differentiation2.47376464
13MP0010307_abnormal_tumor_latency2.46816917
14MP0001730_embryonic_growth_arrest2.41177032
15MP0003121_genomic_imprinting2.33073441
16MP0000350_abnormal_cell_proliferation2.30979641
17MP0008007_abnormal_cellular_replicative2.18437307
18MP0004197_abnormal_fetal_growth/weight/2.08021035
19MP0010234_abnormal_vibrissa_follicle2.06244737
20MP0002084_abnormal_developmental_patter2.01054733
21MP0005380_embryogenesis_phenotype1.95316854
22MP0001672_abnormal_embryogenesis/_devel1.95316854
23MP0008058_abnormal_DNA_repair1.91743198
24MP0001697_abnormal_embryo_size1.91005930
25MP0008932_abnormal_embryonic_tissue1.89918971
26MP0003567_abnormal_fetal_cardiomyocyte1.89136112
27MP0002085_abnormal_embryonic_tissue1.87687899
28MP0002396_abnormal_hematopoietic_system1.84830646
29MP0010030_abnormal_orbit_morphology1.82588140
30MP0003984_embryonic_growth_retardation1.81316720
31MP0002088_abnormal_embryonic_growth/wei1.79841800
32MP0002086_abnormal_extraembryonic_tissu1.78229295
33MP0006054_spinal_hemorrhage1.77205342
34MP0009053_abnormal_anal_canal1.75275129
35MP0003890_abnormal_embryonic-extraembry1.73893949
36MP0004808_abnormal_hematopoietic_stem1.69658675
37MP0002080_prenatal_lethality1.66611853
38MP0009697_abnormal_copulation1.59433965
39MP0001293_anophthalmia1.52734793
40MP0008877_abnormal_DNA_methylation1.47058243
41MP0009703_decreased_birth_body1.37912134
42MP0009672_abnormal_birth_weight1.36576034
43MP0000569_abnormal_digit_pigmentation1.36218650
44MP0003937_abnormal_limbs/digits/tail_de1.36020427
45MP0000428_abnormal_craniofacial_morphol1.35174999
46MP0003119_abnormal_digestive_system1.35071715
47MP0000733_abnormal_muscle_development1.34006517
48MP0000490_abnormal_crypts_of1.32684830
49MP0005187_abnormal_penis_morphology1.32526702
50MP0003787_abnormal_imprinting1.29191847
51MP0003115_abnormal_respiratory_system1.21626000
52MP0002092_abnormal_eye_morphology1.21327685
53MP0005501_abnormal_skin_physiology1.18671836
54MP0001849_ear_inflammation1.18601699
55MP0003935_abnormal_craniofacial_develop1.16339400
56MP0000313_abnormal_cell_death1.14861227
57MP0002796_impaired_skin_barrier1.13802106
58MP0002019_abnormal_tumor_incidence1.10728407
59MP0009278_abnormal_bone_marrow1.10132142
60MP0000703_abnormal_thymus_morphology1.04617285
61MP0003861_abnormal_nervous_system1.02408892
62MP0001661_extended_life_span0.97824487
63MP0001915_intracranial_hemorrhage0.97256814
64MP0003300_gastrointestinal_ulcer0.97184494
65* MP0002697_abnormal_eye_size0.96715287
66MP0002111_abnormal_tail_morphology0.96357558
67MP0002877_abnormal_melanocyte_morpholog0.96165404
68MP0002925_abnormal_cardiovascular_devel0.96144937
69MP0005621_abnormal_cell_physiology0.95871259
70MP0003315_abnormal_perineum_morphology0.95102140
71MP0010678_abnormal_skin_adnexa0.92643825
72MP0002166_altered_tumor_susceptibility0.92553618
73MP0003122_maternal_imprinting0.91223829
74MP0004233_abnormal_muscle_weight0.90629871
75MP0000432_abnormal_head_morphology0.90478192
76MP0002006_tumorigenesis0.90140648
77MP0004185_abnormal_adipocyte_glucose0.89448806
78MP0001286_abnormal_eye_development0.88783909
79MP0003385_abnormal_body_wall0.87781724
80MP0003786_premature_aging0.87323864
81MP0003718_maternal_effect0.87198898
82MP0000358_abnormal_cell_content/0.86308442
83MP0003566_abnormal_cell_adhesion0.85468835
84MP0008770_decreased_survivor_rate0.85387775
85MP0002210_abnormal_sex_determination0.84787586
86MP0001727_abnormal_embryo_implantation0.83743764
87MP0001346_abnormal_lacrimal_gland0.83450364
88MP0003283_abnormal_digestive_organ0.83450086
89MP0005623_abnormal_meninges_morphology0.80613626
90MP0003755_abnormal_palate_morphology0.79922045
91MP0006035_abnormal_mitochondrial_morpho0.78864894
92MP0001145_abnormal_male_reproductive0.78444063
93MP0002932_abnormal_joint_morphology0.78298571
94MP0004264_abnormal_extraembryonic_tissu0.78126186
95MP0002653_abnormal_ependyma_morphology0.77799206
96MP0003221_abnormal_cardiomyocyte_apopto0.73684042
97MP0002114_abnormal_axial_skeleton0.73177636
98MP0002081_perinatal_lethality0.72748441
99MP0002233_abnormal_nose_morphology0.70401105
100MP0000579_abnormal_nail_morphology0.70082792
101MP0000266_abnormal_heart_morphology0.69993892
102MP0005397_hematopoietic_system_phenotyp0.69916225
103MP0001545_abnormal_hematopoietic_system0.69916225
104MP0003941_abnormal_skin_development0.69707223
105MP0000477_abnormal_intestine_morphology0.69494817
106MP0000383_abnormal_hair_follicle0.68888385
107MP0002938_white_spotting0.68541316
108MP0000627_abnormal_mammary_gland0.66852498
109MP0008789_abnormal_olfactory_epithelium0.66721869
110MP0002398_abnormal_bone_marrow0.66540674
111MP0001784_abnormal_fluid_regulation0.66345917
112MP0002282_abnormal_trachea_morphology0.65358478
113MP0010630_abnormal_cardiac_muscle0.64845560
114MP0000762_abnormal_tongue_morphology0.63906690
115MP0000653_abnormal_sex_gland0.63037250
116MP0005384_cellular_phenotype0.62915470
117MP0003942_abnormal_urinary_system0.62485409
118MP0003763_abnormal_thymus_physiology0.62478319
119MP0005451_abnormal_body_composition0.60709718
120MP0000377_abnormal_hair_follicle0.59565580
121MP0001881_abnormal_mammary_gland0.59409951
122MP0001299_abnormal_eye_distance/0.58345615
123MP0000566_synostosis0.57519685
124MP0001216_abnormal_epidermal_layer0.57476376
125MP0001340_abnormal_eyelid_morphology0.57375671
126MP0002060_abnormal_skin_morphology0.57235255
127MP0004782_abnormal_surfactant_physiolog0.56922717

Predicted human phenotypes

RankGene SetZ-score
1Ependymoma (HP:0002888)3.65920461
2Short 4th metacarpal (HP:0010044)3.48328059
3Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.48328059
4Volvulus (HP:0002580)3.46808002
5Increased nuchal translucency (HP:0010880)3.23589541
6Colon cancer (HP:0003003)3.22440343
7Medulloblastoma (HP:0002885)3.12406313
8Cortical dysplasia (HP:0002539)3.07969959
9Nephroblastoma (Wilms tumor) (HP:0002667)3.05078444
10Hyperacusis (HP:0010780)2.99297983
11Astrocytoma (HP:0009592)2.98813818
12Abnormality of the astrocytes (HP:0100707)2.98813818
13Microvesicular hepatic steatosis (HP:0001414)2.92742880
14Selective tooth agenesis (HP:0001592)2.91508179
15Asymmetry of the thorax (HP:0001555)2.85184387
16Embryonal renal neoplasm (HP:0011794)2.83749025
17Proximal placement of thumb (HP:0009623)2.82965897
18Deviation of the thumb (HP:0009603)2.76166979
19Renal duplication (HP:0000075)2.72207376
20Abnormality of the 4th metacarpal (HP:0010012)2.71904044
21Progressive muscle weakness (HP:0003323)2.54338963
22High anterior hairline (HP:0009890)2.53208696
23Glioma (HP:0009733)2.52017706
24Progressive external ophthalmoplegia (HP:0000590)2.50506885
25Renovascular hypertension (HP:0100817)2.50445366
26Pelvic girdle muscle weakness (HP:0003749)2.46542043
27Basal cell carcinoma (HP:0002671)2.46511226
28Multiple enchondromatosis (HP:0005701)2.46491041
29Abnormality of the preputium (HP:0100587)2.45645215
30Rhabdomyosarcoma (HP:0002859)2.42665288
31Neoplasm of the oral cavity (HP:0100649)2.39060443
32Prominent nose (HP:0000448)2.36376613
33High pitched voice (HP:0001620)2.36348143
34Malignant gastrointestinal tract tumors (HP:0006749)2.34663289
35Gastrointestinal carcinoma (HP:0002672)2.34663289
36Biliary tract neoplasm (HP:0100574)2.34633261
37Neoplasm of striated muscle (HP:0009728)2.32381755
38Elfin facies (HP:0004428)2.28970766
39Overriding aorta (HP:0002623)2.28565534
40Facial hemangioma (HP:0000329)2.27926546
41Abnormality of chromosome stability (HP:0003220)2.27205608
42Termporal pattern (HP:0011008)2.25696021
43Insidious onset (HP:0003587)2.25696021
44Heterotopia (HP:0002282)2.25002180
45Abnormal number of incisors (HP:0011064)2.24668240
46Abnormality of the labia minora (HP:0012880)2.23072133
47Subacute progressive viral hepatitis (HP:0006572)2.20720293
48Aplasia/Hypoplasia of the uvula (HP:0010293)2.18960569
49Birth length less than 3rd percentile (HP:0003561)2.18456848
50Chromsome breakage (HP:0040012)2.13804543
51Abnormality of the fingertips (HP:0001211)2.13406675
52Atresia of the external auditory canal (HP:0000413)2.11344696
53Syringomyelia (HP:0003396)2.10709043
54Spinal cord lesions (HP:0100561)2.10709043
55Bowel diverticulosis (HP:0005222)2.10084929
56Pseudobulbar signs (HP:0002200)2.10072993
57Shoulder girdle muscle weakness (HP:0003547)2.09156233
58Patellar aplasia (HP:0006443)2.05311582
59Obsessive-compulsive behavior (HP:0000722)2.04675281
60Rectal prolapse (HP:0002035)2.04052572
61Absent radius (HP:0003974)2.03250667
62Shallow orbits (HP:0000586)2.02673785
63Cafe-au-lait spot (HP:0000957)2.01964950
64Leiomyosarcoma (HP:0100243)2.01817952
65Uterine leiomyosarcoma (HP:0002891)2.01817952
66Abnormal lung lobation (HP:0002101)2.00798359
67Aplasia/Hypoplasia of the patella (HP:0006498)2.00288186
68Orthostatic hypotension (HP:0001278)2.00119066
69Abnormality of the musculature of the pelvis (HP:0001469)1.99381793
70Abnormality of the hip-girdle musculature (HP:0001445)1.99381793
71Sandal gap (HP:0001852)1.97394679
72Cutis marmorata (HP:0000965)1.97271784
73Long eyelashes (HP:0000527)1.96820338
74Duplication of thumb phalanx (HP:0009942)1.96392446
75Pointed chin (HP:0000307)1.93382634
76Broad palm (HP:0001169)1.92974678
77Insomnia (HP:0100785)1.92956203
78Increased density of long bones (HP:0006392)1.92924214
79Embryonal neoplasm (HP:0002898)1.92332385
80Chromosomal breakage induced by crosslinking agents (HP:0003221)1.92148295
81Missing ribs (HP:0000921)1.91305148
82Fibrous tissue neoplasm (HP:0012316)1.89058687
83Skin tags (HP:0010609)1.87230236
84Macroorchidism (HP:0000053)1.86343565
85Abnormality of the carotid arteries (HP:0005344)1.86115234
86Aplasia involving forearm bones (HP:0009822)1.85496449
87Absent forearm bone (HP:0003953)1.85496449
88Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.85426560
89Ectopic kidney (HP:0000086)1.84275951
90Intestinal polyp (HP:0005266)1.84070021
91Abnormality of the diencephalon (HP:0010662)1.81799152
92Myelodysplasia (HP:0002863)1.81248980
93Reticulocytopenia (HP:0001896)1.81003330
94Truncal obesity (HP:0001956)1.79987331
95Neoplasm of the pancreas (HP:0002894)1.79814335
96Ovarian neoplasm (HP:0100615)1.78784926
97Abnormality of cochlea (HP:0000375)1.78748763
98Intestinal polyposis (HP:0200008)1.78682672
99Fibroma (HP:0010614)1.78525236
100Abnormality of chromosome segregation (HP:0002916)1.78380400
101Overlapping toe (HP:0001845)1.78202187
102Ankyloglossia (HP:0010296)1.77738791
103Transitional cell carcinoma of the bladder (HP:0006740)1.76555617
104Facial cleft (HP:0002006)1.75964464
105Deep philtrum (HP:0002002)1.75806039
106Sacral dimple (HP:0000960)1.75326052
107Flat cornea (HP:0007720)1.74258545
108Uterine neoplasm (HP:0010784)1.74254188
109Meckel diverticulum (HP:0002245)1.74098773
110Broad thumb (HP:0011304)1.73527927
111Aplasia/Hypoplasia of the sternum (HP:0006714)1.73347998
112Skull defect (HP:0001362)1.73280736
113Horseshoe kidney (HP:0000085)1.72906170
114Adenoma sebaceum (HP:0009720)1.72204233
115Angiofibromas (HP:0010615)1.72204233
116Choanal atresia (HP:0000453)1.72105802
117Abnormality of oral frenula (HP:0000190)1.72039544
118Esophageal atresia (HP:0002032)1.71363944
119Abnormality of the distal phalanx of the thumb (HP:0009617)1.71075204
120Neoplasm of the colon (HP:0100273)1.70805461
121Enlarged penis (HP:0000040)1.70640183
122Spastic diplegia (HP:0001264)1.70307445
123Cutaneous melanoma (HP:0012056)1.69630092
124Duodenal stenosis (HP:0100867)1.68273636
125Small intestinal stenosis (HP:0012848)1.68273636
126Trigonocephaly (HP:0000243)1.68224236
127Low anterior hairline (HP:0000294)1.68218416
128Abnormality of the ileum (HP:0001549)1.67877051
129Impulsivity (HP:0100710)1.67319292
130Abnormality of the calcaneus (HP:0008364)1.66991608
131Abnormality of the lower motor neuron (HP:0002366)1.66965595
13211 pairs of ribs (HP:0000878)1.66845256
133Neuroblastoma (HP:0003006)1.65761368
134Primitive neuroectodermal tumor (HP:0030065)1.65761368
135Neuroblastic tumors (HP:0004376)1.65761368
136Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.65761368
137Abnormality of the duodenum (HP:0002246)1.64287565
138Arnold-Chiari malformation (HP:0002308)1.63126819
139Abnormality of glycolysis (HP:0004366)1.61292395
140Glossoptosis (HP:0000162)1.60735082
141Secondary amenorrhea (HP:0000869)1.60098366
142Bladder neoplasm (HP:0009725)1.59692204
143Bladder carcinoma (HP:0002862)1.59692204
144Premature ovarian failure (HP:0008209)1.59175342
145Aplasia/hypoplasia of the humerus (HP:0006507)1.58820508
146Abnormality of the salivary glands (HP:0010286)1.55328417
147Radioulnar synostosis (HP:0002974)1.54613186

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.69666811
2EEF2K3.42362846
3NEK23.17662069
4PKN23.06889717
5CDK122.98489579
6WEE12.96071972
7MAP3K102.77778099
8SMG12.53467288
9SCYL22.38214445
10MKNK12.29241817
11PBK2.22610278
12* SRPK12.08261701
13TRIB32.07675735
14TTK2.03176027
15PASK2.02702318
16NEK11.96754938
17RPS6KB21.91070714
18MKNK21.90211261
19ATR1.71557387
20BRD41.71282689
21LATS11.67700277
22ALK1.67074641
23CDK41.66862384
24BUB11.65135631
25CDK61.63655631
26DYRK31.59302870
27ACVR1B1.58133875
28TAF11.48193058
29AURKB1.47467331
30TSSK61.45914148
31TGFBR11.45027796
32PLK11.44402423
33CHEK11.43834150
34MAP3K81.43016313
35PLK31.38536952
36STK101.35814894
37PTK61.35775887
38CHEK21.33570155
39STK31.30564703
40TLK11.30171543
41RPS6KA41.28708222
42BRSK21.28681682
43CDK71.23706094
44PAK41.17582806
45PDGFRA1.17219362
46NME21.15977726
47ATM1.15722600
48VRK21.13300344
49TTN1.12656187
50LRRK21.08036494
51CDK21.04463026
52MTOR1.02277369
53STK41.01818447
54PNCK0.97917242
55FGFR10.93809884
56FLT30.93685519
57PRPF4B0.93590334
58EIF2AK10.89341914
59ERBB30.87020224
60RIPK10.85994767
61MELK0.85855999
62CDK10.82428816
63EIF2AK20.81764828
64BRAF0.81370317
65KSR10.79736043
66PAK20.77981523
67FGFR40.77477786
68NEK90.73428162
69CDK90.71589133
70ERBB40.70384332
71BRSK10.69324215
72CDK80.67185201
73FGFR20.66908508
74BCR0.66516476
75CAMK1D0.65902558
76PRKDC0.65105528
77CSNK1D0.64985067
78CSNK1E0.63583420
79AURKA0.58540204
80PIM10.57683009
81ICK0.57022281
82CDK150.55947824
83AKT20.55378770
84CDK180.55140492
85CDK11A0.54979089
86TESK20.54643460
87MST1R0.53760373
88MAPK140.52207224
89TYRO30.50884543
90CDK140.49329173
91PLK40.49106852
92FGFR30.48890399
93STK240.48166764
94CSNK2A20.47364792
95PDGFRB0.46864656
96LATS20.46339616
97DYRK1B0.45835495
98CAMK1G0.43757073
99CSNK1A1L0.42848264
100DDR20.41596531
101VRK10.41053613
102YES10.39889126
103ERBB20.39410216
104GSK3B0.38977516
105MAP2K30.37401997
106KDR0.37272638
107CDK30.37260415
108AKT10.36835995
109CSNK2A10.36580928
110CCNB10.36294288
111MAPK110.35670281
112GRK60.35141034
113KSR20.35108238
114EIF2AK30.35007688
115MAP3K140.34601810
116STK38L0.34548153
117IRAK30.33296725
118ZAK0.32689605
119CLK10.31553138
120RPS6KA50.30332382
121ILK0.30206705
122RET0.29634900
123MAPK90.28519190
124MAPK10.28480365
125CSNK1G10.26811850
126RPS6KB10.26689942
127MAPK100.26688011
128EPHA20.26065551
129CSNK1G30.26007062
130PAK10.25711438

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.95930193
2Mismatch repair_Homo sapiens_hsa034303.35755081
3* Spliceosome_Homo sapiens_hsa030403.09518836
4Cell cycle_Homo sapiens_hsa041103.02844800
5RNA transport_Homo sapiens_hsa030133.01265170
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.64602770
7mRNA surveillance pathway_Homo sapiens_hsa030152.60517547
8Systemic lupus erythematosus_Homo sapiens_hsa053222.29083225
9One carbon pool by folate_Homo sapiens_hsa006702.28559246
10Nucleotide excision repair_Homo sapiens_hsa034202.14481024
11Base excision repair_Homo sapiens_hsa034102.13847222
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.94920570
13Homologous recombination_Homo sapiens_hsa034401.89185600
14Fanconi anemia pathway_Homo sapiens_hsa034601.82048130
15Non-homologous end-joining_Homo sapiens_hsa034501.81824675
16Viral carcinogenesis_Homo sapiens_hsa052031.65388258
17Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.64081997
18Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.60007705
19MicroRNAs in cancer_Homo sapiens_hsa052061.57995157
20RNA degradation_Homo sapiens_hsa030181.55846988
21Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.54622673
22p53 signaling pathway_Homo sapiens_hsa041151.52780078
23Oocyte meiosis_Homo sapiens_hsa041141.49454139
24Chronic myeloid leukemia_Homo sapiens_hsa052201.47751324
25Alcoholism_Homo sapiens_hsa050341.43922513
26Colorectal cancer_Homo sapiens_hsa052101.35318495
27Small cell lung cancer_Homo sapiens_hsa052221.34520337
28mTOR signaling pathway_Homo sapiens_hsa041501.30220536
29Proteasome_Homo sapiens_hsa030501.28235492
30HTLV-I infection_Homo sapiens_hsa051661.27211814
31Basal cell carcinoma_Homo sapiens_hsa052171.26383863
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.22645828
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.21892771
34Hippo signaling pathway_Homo sapiens_hsa043901.20994522
35Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18268773
36Carbon metabolism_Homo sapiens_hsa012001.15830487
37Transcriptional misregulation in cancer_Homo sapiens_hsa052021.15789322
38Thyroid cancer_Homo sapiens_hsa052161.13171963
39Antigen processing and presentation_Homo sapiens_hsa046121.11567082
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.10872837
41Pentose phosphate pathway_Homo sapiens_hsa000301.09535850
42Lysine degradation_Homo sapiens_hsa003101.08795443
43Non-small cell lung cancer_Homo sapiens_hsa052231.08737104
44Ribosome_Homo sapiens_hsa030101.06110106
45Endometrial cancer_Homo sapiens_hsa052131.02516313
46Basal transcription factors_Homo sapiens_hsa030221.01065684
47Central carbon metabolism in cancer_Homo sapiens_hsa052301.00753501
48Adherens junction_Homo sapiens_hsa045200.99165017
49Notch signaling pathway_Homo sapiens_hsa043300.98627038
50Proteoglycans in cancer_Homo sapiens_hsa052050.98562965
51Epstein-Barr virus infection_Homo sapiens_hsa051690.96771190
52TGF-beta signaling pathway_Homo sapiens_hsa043500.95384658
53Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.91753696
54Pyrimidine metabolism_Homo sapiens_hsa002400.90691544
55* Herpes simplex infection_Homo sapiens_hsa051680.89330095
56Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88610912
57Pyruvate metabolism_Homo sapiens_hsa006200.88327714
58Hedgehog signaling pathway_Homo sapiens_hsa043400.87226640
59RNA polymerase_Homo sapiens_hsa030200.86412734
60Pancreatic cancer_Homo sapiens_hsa052120.86148631
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.85305973
62Prostate cancer_Homo sapiens_hsa052150.81538379
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.80812387
64Glioma_Homo sapiens_hsa052140.80099699
65Steroid biosynthesis_Homo sapiens_hsa001000.78821260
66Bladder cancer_Homo sapiens_hsa052190.77831171
67Viral myocarditis_Homo sapiens_hsa054160.77674579
68Hepatitis B_Homo sapiens_hsa051610.76207316
69Wnt signaling pathway_Homo sapiens_hsa043100.74581369
70Selenocompound metabolism_Homo sapiens_hsa004500.72905711
71Pathways in cancer_Homo sapiens_hsa052000.72174330
72Vitamin B6 metabolism_Homo sapiens_hsa007500.72133624
73Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.70659223
74Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68991275
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.65170197
76Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.63683515
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63107977
78Focal adhesion_Homo sapiens_hsa045100.62717670
79Acute myeloid leukemia_Homo sapiens_hsa052210.61993913
80Renal cell carcinoma_Homo sapiens_hsa052110.61910155
81FoxO signaling pathway_Homo sapiens_hsa040680.61021093
82Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.59442677
83Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.58277851
84Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.58261098
85Tight junction_Homo sapiens_hsa045300.57199043
86VEGF signaling pathway_Homo sapiens_hsa043700.54853583
87B cell receptor signaling pathway_Homo sapiens_hsa046620.54153513
88HIF-1 signaling pathway_Homo sapiens_hsa040660.53831135
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53125883
90Apoptosis_Homo sapiens_hsa042100.52867812
91AMPK signaling pathway_Homo sapiens_hsa041520.52813647
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.52574020
93AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52468116
94Dorso-ventral axis formation_Homo sapiens_hsa043200.51910177
95Sulfur relay system_Homo sapiens_hsa041220.51785787
96Estrogen signaling pathway_Homo sapiens_hsa049150.49696545
97Fructose and mannose metabolism_Homo sapiens_hsa000510.49048175
98T cell receptor signaling pathway_Homo sapiens_hsa046600.48075371
99N-Glycan biosynthesis_Homo sapiens_hsa005100.47146007
100Biosynthesis of amino acids_Homo sapiens_hsa012300.45249735
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45248906
102Platelet activation_Homo sapiens_hsa046110.44643094
103Melanoma_Homo sapiens_hsa052180.44368182
104Primary immunodeficiency_Homo sapiens_hsa053400.42787986
105Insulin signaling pathway_Homo sapiens_hsa049100.42471835
106Folate biosynthesis_Homo sapiens_hsa007900.38769970
107PI3K-Akt signaling pathway_Homo sapiens_hsa041510.37793842
108Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37046776
109Prolactin signaling pathway_Homo sapiens_hsa049170.36999958
110Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35674909
111Cyanoamino acid metabolism_Homo sapiens_hsa004600.35228503
112ErbB signaling pathway_Homo sapiens_hsa040120.34356352
113Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33052601
114Insulin resistance_Homo sapiens_hsa049310.32627054
115Purine metabolism_Homo sapiens_hsa002300.32569775
116Inositol phosphate metabolism_Homo sapiens_hsa005620.31362924
117Melanogenesis_Homo sapiens_hsa049160.30682802
118Shigellosis_Homo sapiens_hsa051310.30162648
119Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29688111
120Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.29160923
121Glucagon signaling pathway_Homo sapiens_hsa049220.28634392
122Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.27148346
123Protein export_Homo sapiens_hsa030600.24563480
124Galactose metabolism_Homo sapiens_hsa000520.24291911
125Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.20135132

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