PHF5A

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 subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)5.17007219
2ribosomal small subunit biogenesis (GO:0042274)4.89251619
3maturation of SSU-rRNA (GO:0030490)4.88383330
4viral transcription (GO:0019083)4.84286088
5DNA deamination (GO:0045006)4.80012141
6translational termination (GO:0006415)4.75272927
7proteasome assembly (GO:0043248)4.61755101
8DNA strand elongation involved in DNA replication (GO:0006271)4.61468798
9telomere maintenance via semi-conservative replication (GO:0032201)4.51360381
10DNA strand elongation (GO:0022616)4.39195178
11ribosomal large subunit biogenesis (GO:0042273)4.38711746
12DNA replication initiation (GO:0006270)4.31371874
13formation of translation preinitiation complex (GO:0001731)4.27931759
14translational elongation (GO:0006414)4.25827001
15SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.20237408
16translational initiation (GO:0006413)4.15655912
17cotranslational protein targeting to membrane (GO:0006613)4.14311141
18CENP-A containing nucleosome assembly (GO:0034080)4.13752163
19DNA replication checkpoint (GO:0000076)4.11624410
20protein targeting to ER (GO:0045047)4.10200332
21negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.10100201
22ribonucleoprotein complex biogenesis (GO:0022613)4.09351425
23protein localization to chromosome, centromeric region (GO:0071459)4.07199721
24nuclear pore complex assembly (GO:0051292)4.06726048
25mitotic chromosome condensation (GO:0007076)4.03700810
26telomere maintenance via recombination (GO:0000722)4.03608019
27chromatin remodeling at centromere (GO:0031055)3.97364070
28nucleobase biosynthetic process (GO:0046112)3.97027525
29anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.94682933
30mitotic metaphase plate congression (GO:0007080)3.94640057
31termination of RNA polymerase III transcription (GO:0006386)3.93944047
32transcription elongation from RNA polymerase III promoter (GO:0006385)3.93944047
33purine nucleobase biosynthetic process (GO:0009113)3.93456657
34positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.91426883
35regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.90660334
36establishment of protein localization to endoplasmic reticulum (GO:0072599)3.88824291
37spliceosomal snRNP assembly (GO:0000387)3.88474045
38protein localization to endoplasmic reticulum (GO:0070972)3.87792091
39nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.86489059
40establishment of viral latency (GO:0019043)3.84343552
41cellular protein complex disassembly (GO:0043624)3.78132185
42negative regulation of ligase activity (GO:0051352)3.76987734
43negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.76987734
44viral life cycle (GO:0019058)3.76526389
457-methylguanosine mRNA capping (GO:0006370)3.75396208
46deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.74613164
47mitotic recombination (GO:0006312)3.73787348
48rRNA processing (GO:0006364)3.73582642
49ribosome biogenesis (GO:0042254)3.73506528
50rRNA modification (GO:0000154)3.72074716
51ribosome assembly (GO:0042255)3.71503579
52translation (GO:0006412)3.69577522
53RNA capping (GO:0036260)3.68830084
547-methylguanosine RNA capping (GO:0009452)3.68830084
55transcription-coupled nucleotide-excision repair (GO:0006283)3.65683505
56kinetochore assembly (GO:0051382)3.63947523
57kinetochore organization (GO:0051383)3.63613329
58nuclear pore organization (GO:0006999)3.62336186
59DNA replication-independent nucleosome assembly (GO:0006336)3.61486537
60DNA replication-independent nucleosome organization (GO:0034724)3.61486537
61telomere maintenance via telomere lengthening (GO:0010833)3.59860938
62rRNA metabolic process (GO:0016072)3.58274767
63nucleobase-containing small molecule interconversion (GO:0015949)3.58132285
64regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.57272175
65DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.55366204
66spliceosomal complex assembly (GO:0000245)3.54159819
67mitotic sister chromatid segregation (GO:0000070)3.53617267
68IMP biosynthetic process (GO:0006188)3.52959495
69protein complex localization (GO:0031503)3.52843739
70mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.51927984
71intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.49079376
72signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.49079376
73signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.48007675
74signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.48007675
75signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.48007675
76regulation of cellular amino acid metabolic process (GO:0006521)3.46729317
77regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.46524030
78nucleotide-excision repair, DNA gap filling (GO:0006297)3.45300861
79protein localization to kinetochore (GO:0034501)3.42874593
80heterochromatin organization (GO:0070828)3.42530126
81establishment of integrated proviral latency (GO:0075713)3.41693644
82signal transduction involved in DNA damage checkpoint (GO:0072422)3.41671044
83signal transduction involved in DNA integrity checkpoint (GO:0072401)3.41671044
84positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.40870067
85folic acid-containing compound biosynthetic process (GO:0009396)3.40417241
86DNA unwinding involved in DNA replication (GO:0006268)3.38909428
87pseudouridine synthesis (GO:0001522)3.38483448
88cellular component biogenesis (GO:0044085)3.37891870
89signal transduction involved in cell cycle checkpoint (GO:0072395)3.37559222
90mitotic nuclear envelope disassembly (GO:0007077)3.35492334
91exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.34447456
92protein complex disassembly (GO:0043241)3.34169591
93metaphase plate congression (GO:0051310)3.32631251
94cell cycle G1/S phase transition (GO:0044843)3.32156631
95G1/S transition of mitotic cell cycle (GO:0000082)3.32156631
96regulation of mitochondrial translation (GO:0070129)3.32077767
97nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.31064209
98histone exchange (GO:0043486)3.29826405
99cellular protein complex localization (GO:0034629)3.29403863
100DNA replication-dependent nucleosome assembly (GO:0006335)3.29042429
101DNA replication-dependent nucleosome organization (GO:0034723)3.29042429
102positive regulation of ligase activity (GO:0051351)3.26572628
103transcription elongation from RNA polymerase I promoter (GO:0006362)3.26282726
104attachment of spindle microtubules to kinetochore (GO:0008608)3.25999871
105regulation of translational fidelity (GO:0006450)3.23980007
106termination of RNA polymerase I transcription (GO:0006363)3.23642152
107viral mRNA export from host cell nucleus (GO:0046784)3.23552615
108energy coupled proton transport, down electrochemical gradient (GO:0015985)3.21837224
109ATP synthesis coupled proton transport (GO:0015986)3.21837224
110cullin deneddylation (GO:0010388)3.20982646
111protein deneddylation (GO:0000338)3.19251669
112peptidyl-arginine omega-N-methylation (GO:0035247)3.19176744
113macromolecular complex disassembly (GO:0032984)3.18757813
114antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.18663834
115L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.18375704
116transcription from RNA polymerase I promoter (GO:0006360)3.17050458
117deoxyribonucleotide biosynthetic process (GO:0009263)3.15695202
118histone arginine methylation (GO:0034969)3.15316071
119IMP metabolic process (GO:0046040)3.14908075
120sister chromatid segregation (GO:0000819)3.11839567
121nuclear envelope disassembly (GO:0051081)3.11410514
122membrane disassembly (GO:0030397)3.11410514
123establishment of chromosome localization (GO:0051303)3.07096688
124L-serine metabolic process (GO:0006563)3.04794229
125regulation of translational termination (GO:0006449)3.03269726
126double-strand break repair via nonhomologous end joining (GO:0006303)3.00903265
127non-recombinational repair (GO:0000726)3.00903265
128establishment of protein localization to mitochondrial membrane (GO:0090151)3.00764569
129pore complex assembly (GO:0046931)3.00064726
130pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.98538914
131positive regulation of chromosome segregation (GO:0051984)2.95783653
132chromatin assembly or disassembly (GO:0006333)2.95022072
133protein targeting to mitochondrion (GO:0006626)2.90332582
134DNA ligation (GO:0006266)2.90044771
135regulation of chromosome segregation (GO:0051983)2.89646038
136negative regulation of chromosome segregation (GO:0051985)2.88519705
137rRNA transcription (GO:0009303)2.88278089
138maturation of 5.8S rRNA (GO:0000460)2.87861759
139negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.87367024

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.87450979
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.55669354
3* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.19759473
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.85151299
5* GABP_17652178_ChIP-ChIP_JURKAT_Human3.82219528
6* EST1_17652178_ChIP-ChIP_JURKAT_Human3.79614147
7* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58318550
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.43182914
9* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.36039189
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.27120411
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.14126152
12* MYC_19079543_ChIP-ChIP_MESCs_Mouse3.12947411
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.06226353
14FOXM1_23109430_ChIP-Seq_U2OS_Human3.01341115
15* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.99887535
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.99019190
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.91499643
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.82775096
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.79137926
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.56199806
21VDR_23849224_ChIP-Seq_CD4+_Human2.55906316
22XRN2_22483619_ChIP-Seq_HELA_Human2.53736509
23CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.50394540
24HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.49575106
25NELFA_20434984_ChIP-Seq_ESCs_Mouse2.41476772
26ELF1_17652178_ChIP-ChIP_JURKAT_Human2.37849059
27DCP1A_22483619_ChIP-Seq_HELA_Human2.32096572
28* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.27624331
29* FOXP3_21729870_ChIP-Seq_TREG_Human2.15003416
30GABP_19822575_ChIP-Seq_HepG2_Human2.07315021
31TTF2_22483619_ChIP-Seq_HELA_Human2.06919359
32THAP11_20581084_ChIP-Seq_MESCs_Mouse2.05967030
33* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.97583613
34ELK1_19687146_ChIP-ChIP_HELA_Human1.93983196
35AR_21909140_ChIP-Seq_LNCAP_Human1.91947788
36MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.91446476
37YY1_21170310_ChIP-Seq_MESCs_Mouse1.91012421
38* SRF_21415370_ChIP-Seq_HL-1_Mouse1.84462009
39* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.84025063
40POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.82278775
41NANOG_18555785_ChIP-Seq_MESCs_Mouse1.79200036
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.77811823
43PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76967312
44SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.75758181
45* E2F1_21310950_ChIP-Seq_MCF-7_Human1.65986099
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.63239352
47* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.63030276
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.60490779
49* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.56889178
50TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.51345201
51* MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.46650066
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.45623875
53MYC_22102868_ChIP-Seq_BL_Human1.44324230
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.40667875
55CIITA_25753668_ChIP-Seq_RAJI_Human1.39653679
56CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.34374355
57FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.34346322
58KDM5A_27292631_Chip-Seq_BREAST_Human1.30297464
59ERG_20887958_ChIP-Seq_HPC-7_Mouse1.28682806
60EGR1_19374776_ChIP-ChIP_THP-1_Human1.27097259
61* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.26484673
62* ELK1_22589737_ChIP-Seq_MCF10A_Human1.24888782
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.22543597
64ZNF263_19887448_ChIP-Seq_K562_Human1.21366504
65* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20855073
66KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.18894896
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.18230740
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.18213905
69KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.16911086
70MYC_18940864_ChIP-ChIP_HL60_Human1.16821819
71* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.16301188
72CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.13328823
73POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13007626
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.11830211
75BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.11231432
76RBPJ_22232070_ChIP-Seq_NCS_Mouse1.10652961
77CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.10289551
78TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10201951
79E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.09818153
80SOX2_18555785_ChIP-Seq_MESCs_Mouse1.07822965
81NOTCH1_21737748_ChIP-Seq_TLL_Human1.02699278
82CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.02643094
83ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02155198
84* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01979175
85TP63_19390658_ChIP-ChIP_HaCaT_Human1.01092325
86CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.98992777
87PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.98188334
88STAT3_1855785_ChIP-Seq_MESCs_Mouse0.97380692
89SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.95363651
90TFEB_21752829_ChIP-Seq_HELA_Human0.94439488
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93485345
92DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.92077694
93SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.91130608
94SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89854836
95VDR_21846776_ChIP-Seq_THP-1_Human0.87755993
96CHD1_26751641_Chip-Seq_LNCaP_Human0.86774338
97SOX17_20123909_ChIP-Seq_XEN_Mouse0.86603454
98PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.86044318
99IRF1_19129219_ChIP-ChIP_H3396_Human0.84025224
100ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.82667260
101OCT4_18692474_ChIP-Seq_MEFs_Mouse0.82493979
102SPI1_23547873_ChIP-Seq_NB4_Human0.82287553
103HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.81960401
104GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81302097
105KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.79548296
106SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79504220
107CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.77710397
108DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.76250033
109NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.76248032
110SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.76121630
111* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75814980
112NANOG_21062744_ChIP-ChIP_HESCs_Human0.73173396
113TCF3_18692474_ChIP-Seq_MEFs_Mouse0.72676967
114CTCF_18555785_ChIP-Seq_MESCs_Mouse0.69193173

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.24317629
2MP0004957_abnormal_blastocyst_morpholog4.65589867
3MP0010094_abnormal_chromosome_stability4.46368521
4MP0003111_abnormal_nucleus_morphology4.39244136
5MP0003077_abnormal_cell_cycle4.06731348
6MP0008057_abnormal_DNA_replication3.78331358
7MP0008058_abnormal_DNA_repair3.59577990
8MP0008932_abnormal_embryonic_tissue3.08376549
9MP0003718_maternal_effect2.73656636
10MP0008007_abnormal_cellular_replicative2.65172713
11MP0003786_premature_aging2.37657762
12MP0003806_abnormal_nucleotide_metabolis2.28902221
13MP0003123_paternal_imprinting2.22614581
14MP0001730_embryonic_growth_arrest2.19521497
15MP0009379_abnormal_foot_pigmentation2.11861771
16MP0003186_abnormal_redox_activity2.02572135
17MP0000350_abnormal_cell_proliferation1.94120277
18MP0003315_abnormal_perineum_morphology1.89721086
19MP0002396_abnormal_hematopoietic_system1.81857812
20MP0008877_abnormal_DNA_methylation1.72955803
21MP0009333_abnormal_splenocyte_physiolog1.65682752
22MP0006292_abnormal_olfactory_placode1.63116642
23MP0004185_abnormal_adipocyte_glucose1.62519392
24MP0004233_abnormal_muscle_weight1.61535014
25MP0010234_abnormal_vibrissa_follicle1.56275062
26MP0001697_abnormal_embryo_size1.52969479
27MP0004147_increased_porphyrin_level1.52216796
28MP0001529_abnormal_vocalization1.50490518
29MP0009672_abnormal_birth_weight1.47099085
30MP0000490_abnormal_crypts_of1.45389582
31MP0002877_abnormal_melanocyte_morpholog1.44416523
32MP0000313_abnormal_cell_death1.41327534
33MP0001672_abnormal_embryogenesis/_devel1.40974100
34MP0005380_embryogenesis_phenotype1.40974100
35MP0009697_abnormal_copulation1.39779309
36MP0002080_prenatal_lethality1.39174649
37MP0002796_impaired_skin_barrier1.36525992
38MP0002132_abnormal_respiratory_system1.35707712
39MP0006036_abnormal_mitochondrial_physio1.33277061
40MP0001346_abnormal_lacrimal_gland1.31653649
41MP0005501_abnormal_skin_physiology1.30034436
42MP0003136_yellow_coat_color1.28374346
43MP0002085_abnormal_embryonic_tissue1.28357897
44MP0002102_abnormal_ear_morphology1.24826268
45MP0010030_abnormal_orbit_morphology1.23878582
46MP0002019_abnormal_tumor_incidence1.23169287
47MP0003984_embryonic_growth_retardation1.22480639
48MP0003567_abnormal_fetal_cardiomyocyte1.22240033
49MP0005408_hypopigmentation1.19472233
50MP0002210_abnormal_sex_determination1.19350323
51MP0006035_abnormal_mitochondrial_morpho1.18909094
52MP0002088_abnormal_embryonic_growth/wei1.18051219
53MP0002697_abnormal_eye_size1.15968638
54MP0002160_abnormal_reproductive_system1.15127798
55MP0001293_anophthalmia1.14842589
56MP0002938_white_spotting1.11857065
57MP0005076_abnormal_cell_differentiation1.09583346
58MP0008260_abnormal_autophagy1.07419665
59MP0000372_irregular_coat_pigmentation1.06910267
60MP0001661_extended_life_span1.04026580
61MP0001145_abnormal_male_reproductive1.03147567
62MP0002254_reproductive_system_inflammat1.02056651
63MP0008789_abnormal_olfactory_epithelium0.99484632
64MP0002084_abnormal_developmental_patter0.97827943
65MP0000358_abnormal_cell_content/0.96577127
66MP0004133_heterotaxia0.95525608
67MP0003121_genomic_imprinting0.94736625
68MP0005389_reproductive_system_phenotype0.94138215
69MP0002163_abnormal_gland_morphology0.93492412
70MP0003656_abnormal_erythrocyte_physiolo0.92056446
71MP0003705_abnormal_hypodermis_morpholog0.91276801
72MP0000653_abnormal_sex_gland0.91066161
73MP0005075_abnormal_melanosome_morpholog0.90219190
74MP0010307_abnormal_tumor_latency0.88611883
75MP0003890_abnormal_embryonic-extraembry0.88361353
76MP0001849_ear_inflammation0.88323969
77MP0001929_abnormal_gametogenesis0.88296549
78MP0002086_abnormal_extraembryonic_tissu0.87871387
79MP0003941_abnormal_skin_development0.87489598
80MP0002092_abnormal_eye_morphology0.84529053
81MP0003937_abnormal_limbs/digits/tail_de0.84155897
82MP0001119_abnormal_female_reproductive0.83425321
83MP0003763_abnormal_thymus_physiology0.83300648
84MP0006054_spinal_hemorrhage0.81857534
85MP0002722_abnormal_immune_system0.81792869
86MP0003221_abnormal_cardiomyocyte_apopto0.81256874
87MP0000703_abnormal_thymus_morphology0.80907387
88MP0010352_gastrointestinal_tract_polyps0.79715376
89MP0005451_abnormal_body_composition0.79591613
90MP0005621_abnormal_cell_physiology0.79412008
91MP0002398_abnormal_bone_marrow0.79085901
92MP0005397_hematopoietic_system_phenotyp0.78511428
93MP0001545_abnormal_hematopoietic_system0.78511428
94MP0000689_abnormal_spleen_morphology0.78425858
95MP0004197_abnormal_fetal_growth/weight/0.76357745
96MP0001853_heart_inflammation0.75720889
97MP0002095_abnormal_skin_pigmentation0.73433695
98MP0001881_abnormal_mammary_gland0.73307877
99MP0000678_abnormal_parathyroid_gland0.72721789
100MP0002751_abnormal_autonomic_nervous0.72659406
101MP0003453_abnormal_keratinocyte_physiol0.71838322
102MP0000428_abnormal_craniofacial_morphol0.71110599
103MP0002653_abnormal_ependyma_morphology0.69556155
104MP0009053_abnormal_anal_canal0.68625303
105MP0004808_abnormal_hematopoietic_stem0.68347515
106MP0001286_abnormal_eye_development0.68179562
107MP0001348_abnormal_lacrimal_gland0.68061780
108MP0001727_abnormal_embryo_implantation0.67848145
109MP0005395_other_phenotype0.67555616
110MP0008995_early_reproductive_senescence0.67537316
111MP0002429_abnormal_blood_cell0.67414656
112MP0005257_abnormal_intraocular_pressure0.66952991
113MP0003119_abnormal_digestive_system0.66114612
114MP0002111_abnormal_tail_morphology0.65860330
115MP0001919_abnormal_reproductive_system0.65788481
116MP0000762_abnormal_tongue_morphology0.65547270
117MP0003566_abnormal_cell_adhesion0.65026268
118MP0009703_decreased_birth_body0.64582320
119MP0003699_abnormal_female_reproductive0.63835597
120MP0000049_abnormal_middle_ear0.63261146
121MP0000566_synostosis0.63079781
122MP0003938_abnormal_ear_development0.62508126
123MP0005384_cellular_phenotype0.62043493
124MP0000750_abnormal_muscle_regeneration0.62004953
125MP0001905_abnormal_dopamine_level0.61719745
126MP0000858_altered_metastatic_potential0.61692610
127MP0001216_abnormal_epidermal_layer0.61674418
128MP0000537_abnormal_urethra_morphology0.61364317
129MP0005266_abnormal_metabolism0.61335232
130MP0001915_intracranial_hemorrhage0.56718209
131MP0002233_abnormal_nose_morphology0.53259337
132MP0000627_abnormal_mammary_gland0.52762206
133MP0000579_abnormal_nail_morphology0.52095792
134MP0005666_abnormal_adipose_tissue0.50084500

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.79463872
2Abnormal number of erythroid precursors (HP:0012131)5.40137761
3Reticulocytopenia (HP:0001896)5.06280643
4Birth length less than 3rd percentile (HP:0003561)5.01588785
5Breast hypoplasia (HP:0003187)4.20145560
6Macrocytic anemia (HP:0001972)3.86644826
7Acute necrotizing encephalopathy (HP:0006965)3.73096630
8Oral leukoplakia (HP:0002745)3.65364985
9Progressive muscle weakness (HP:0003323)3.64344550
10Cerebral hypomyelination (HP:0006808)3.53838484
11Carpal bone hypoplasia (HP:0001498)3.44267976
12Pallor (HP:0000980)3.40938330
13Patellar aplasia (HP:0006443)3.32553030
14Rough bone trabeculation (HP:0100670)3.30205098
15Abnormal mitochondria in muscle tissue (HP:0008316)3.28989661
16Mitochondrial inheritance (HP:0001427)3.27563437
17Aplastic anemia (HP:0001915)3.20949692
18Increased hepatocellular lipid droplets (HP:0006565)3.17261181
19Aplasia/Hypoplasia of the patella (HP:0006498)3.16249952
20Increased CSF lactate (HP:0002490)3.11379700
21Abnormality of glycolysis (HP:0004366)3.01673537
22Increased serum pyruvate (HP:0003542)3.01673537
23Hepatocellular necrosis (HP:0001404)2.93252192
24Acute encephalopathy (HP:0006846)2.90768371
25Progressive macrocephaly (HP:0004481)2.90624903
26Aplasia/Hypoplasia of the sacrum (HP:0008517)2.88532827
27Chromsome breakage (HP:0040012)2.87994737
28Decreased activity of mitochondrial respiratory chain (HP:0008972)2.86737406
29Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.86737406
30Chromosomal breakage induced by crosslinking agents (HP:0003221)2.82561003
31Progressive external ophthalmoplegia (HP:0000590)2.82092602
32Increased serum lactate (HP:0002151)2.79694361
33Abnormality of the anterior horn cell (HP:0006802)2.79566471
34Degeneration of anterior horn cells (HP:0002398)2.79566471
35Absent radius (HP:0003974)2.77538080
36Absent thumb (HP:0009777)2.77405029
37Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.75433650
38Microretrognathia (HP:0000308)2.74697867
39Lipid accumulation in hepatocytes (HP:0006561)2.72955388
403-Methylglutaconic aciduria (HP:0003535)2.72590481
41Meckel diverticulum (HP:0002245)2.72176459
42Abnormality of the preputium (HP:0100587)2.68303804
43Exertional dyspnea (HP:0002875)2.62850707
44Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.62528737
45Abnormality of the ileum (HP:0001549)2.61597786
46Aplasia involving forearm bones (HP:0009822)2.59491514
47Absent forearm bone (HP:0003953)2.59491514
48Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.58499451
49Selective tooth agenesis (HP:0001592)2.52569002
50Horseshoe kidney (HP:0000085)2.51985327
51Hepatic necrosis (HP:0002605)2.48970390
52Type I transferrin isoform profile (HP:0003642)2.48793278
53Nephroblastoma (Wilms tumor) (HP:0002667)2.48467110
54Stenosis of the external auditory canal (HP:0000402)2.47391430
55Abnormal trabecular bone morphology (HP:0100671)2.46768020
56Premature graying of hair (HP:0002216)2.44589647
57Abnormality of the heme biosynthetic pathway (HP:0010472)2.43358358
58Multiple enchondromatosis (HP:0005701)2.42540796
59Colon cancer (HP:0003003)2.40926294
60Secondary amenorrhea (HP:0000869)2.40047729
61Trismus (HP:0000211)2.38377402
62Squamous cell carcinoma (HP:0002860)2.36427483
63Triphalangeal thumb (HP:0001199)2.32265107
64Abnormal lung lobation (HP:0002101)2.30865597
65Embryonal renal neoplasm (HP:0011794)2.29740040
66Cleft eyelid (HP:0000625)2.29713090
67Hypoplasia of the capital femoral epiphysis (HP:0003090)2.29244030
68Premature ovarian failure (HP:0008209)2.29167881
69Abnormality of chromosome stability (HP:0003220)2.29066743
70Respiratory difficulties (HP:0002880)2.26385800
71Bone marrow hypocellularity (HP:0005528)2.25861316
72Cellular immunodeficiency (HP:0005374)2.25095577
73Aplasia/Hypoplasia of the uvula (HP:0010293)2.24832073
74Renal Fanconi syndrome (HP:0001994)2.24336745
75Duplicated collecting system (HP:0000081)2.24099478
76Exercise intolerance (HP:0003546)2.20956339
77Spastic diplegia (HP:0001264)2.20656944
78Small intestinal stenosis (HP:0012848)2.18697522
79Duodenal stenosis (HP:0100867)2.18697522
8011 pairs of ribs (HP:0000878)2.18063355
81Medulloblastoma (HP:0002885)2.14435100
82Supernumerary spleens (HP:0009799)2.11647164
83Pancytopenia (HP:0001876)2.10705651
84Respiratory failure (HP:0002878)2.10441404
85Abnormality of the umbilical cord (HP:0010881)2.10098901
86Impulsivity (HP:0100710)2.08142472
87Abnormality of methionine metabolism (HP:0010901)2.08114080
88Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.08047187
89Cerebral edema (HP:0002181)2.07525940
90Ragged-red muscle fibers (HP:0003200)2.05489177
91Abnormal number of incisors (HP:0011064)2.04106160
92Glossoptosis (HP:0000162)2.03043479
93Irregular epiphyses (HP:0010582)2.02846370
94Myelodysplasia (HP:0002863)2.02565712
95Facial cleft (HP:0002006)2.02228360
96Lactic acidosis (HP:0003128)1.98604615
97CNS hypomyelination (HP:0003429)1.97541967
98Sparse eyelashes (HP:0000653)1.97237897
99Increased nuchal translucency (HP:0010880)1.96869394
100Abnormality of reticulocytes (HP:0004312)1.96123778
101Hypoplasia of the radius (HP:0002984)1.95198610
102Poor head control (HP:0002421)1.94368993
103Abnormalities of placenta or umbilical cord (HP:0001194)1.94212124
104Microvesicular hepatic steatosis (HP:0001414)1.94171362
105Ectopic kidney (HP:0000086)1.93962784
106Neoplasm of the pancreas (HP:0002894)1.93823123
107Atresia of the external auditory canal (HP:0000413)1.91939620
108Abnormality of the renal collecting system (HP:0004742)1.91277583
109Increased intramyocellular lipid droplets (HP:0012240)1.90644945
110Abnormal umbilical cord blood vessels (HP:0011403)1.90437574
111Dysphonia (HP:0001618)1.88877569
112Aplasia/Hypoplasia involving the musculature (HP:0001460)1.88615745
113Tracheoesophageal fistula (HP:0002575)1.86908912
114Increased muscle lipid content (HP:0009058)1.86849777
115Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.86583744
116Absent epiphyses (HP:0010577)1.86583744
117Duplication of thumb phalanx (HP:0009942)1.86062529
118Single umbilical artery (HP:0001195)1.85899615
119Abnormality of the fetal cardiovascular system (HP:0010948)1.85899615
120Abnormality of pyrimidine metabolism (HP:0004353)1.79549844
121Cafe-au-lait spot (HP:0000957)1.79433923
122Ependymoma (HP:0002888)1.76906144
123Reduced antithrombin III activity (HP:0001976)1.76882994
124Megaloblastic anemia (HP:0001889)1.76523034
125Abnormality of the carotid arteries (HP:0005344)1.69785988
126Choanal atresia (HP:0000453)1.68035577
127Angiofibromas (HP:0010615)1.67542092
128Adenoma sebaceum (HP:0009720)1.67542092

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.42622065
2WEE14.49304051
3EIF2AK13.68250609
4NME23.38944888
5CDC73.10546154
6VRK23.03857753
7SRPK12.97099802
8STK162.86467399
9PLK42.65269785
10VRK12.51933070
11EIF2AK32.51101643
12SMG12.47099943
13BRSK22.08495298
14TSSK62.04500264
15TESK21.97597252
16TTK1.94465407
17ACVR1B1.90691910
18PBK1.88378982
19PLK11.86852038
20NEK21.83277897
21MKNK11.78038955
22CCNB11.77624561
23NME11.71594702
24NEK11.71126705
25DYRK31.62959928
26PLK31.60708154
27TAF11.60195975
28PDK21.57840367
29TLK11.54654816
30AURKB1.54322828
31PIM21.52986630
32AURKA1.45749326
33CDK71.43598817
34MAP3K101.33014139
35BRSK11.29407865
36ICK1.28715217
37ZAK1.25948849
38MKNK21.25110232
39BRAF1.24578197
40ATR1.22248884
41CHEK21.17984414
42KDR1.15016464
43RPS6KA41.14832035
44EEF2K1.12858069
45MAP3K81.11049380
46MST41.09638746
47DYRK21.03860107
48RPS6KB21.02752499
49MAP3K121.01355139
50PASK0.98310996
51EPHA20.96463165
52EIF2AK20.93349734
53STK40.93242956
54LATS20.88524663
55TRIM280.88332125
56CHEK10.85695223
57CSNK2A10.82349984
58PRPF4B0.82024881
59PAK40.80850697
60PAK10.78365144
61ABL20.77629024
62CDK40.76996318
63CSNK2A20.75510507
64MAP3K110.73818073
65ARAF0.72861255
66STK100.71886356
67CDK190.69486209
68ALK0.68471391
69MST1R0.66790473
70PNCK0.66701650
71MAP3K90.66221253
72CDK80.65673485
73DAPK10.64811381
74LIMK10.64523549
75RPS6KA50.64311959
76TESK10.64293979
77PIM10.64199177
78CDK120.63362841
79LRRK20.62262280
80CLK10.61232647
81TGFBR10.61009487
82ERBB40.57050183
83AKT30.55872649
84CDK20.55562667
85PRKCI0.54971448
86ATM0.54848323
87CDK60.51490749
88BCR0.50536778
89BCKDK0.48776928
90CSNK1G30.48066349
91CDK10.46297624
92SCYL20.45650584
93YES10.43335509
94TAOK20.42216993
95BRD40.41933112
96IRAK30.41500652
97DAPK30.39541348
98ILK0.39534174
99BMX0.36451237
100IRAK40.34073284
101MAP3K50.33103007
102KSR20.32063467
103OBSCN0.30463626
104CSNK1G10.29957271
105FGFR10.29916393
106STK38L0.27984956
107MAP3K30.27659259
108MAP2K70.27260322
109TEC0.26719827
110MELK0.24562365
111STK240.21557845
112CDK11A0.20196248
113CSNK1E0.19685895
114AKT20.19677915
115MAP4K10.18223075
116NUAK10.17671905
117NLK0.17649501
118IKBKB0.17418098
119STK30.16509876
120BTK0.15289629
121CDK140.15069436
122CDK180.14904060
123RAF10.14863987
124LYN0.14604870
125CDK150.13458494

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.66764108
2Proteasome_Homo sapiens_hsa030504.49775149
3DNA replication_Homo sapiens_hsa030304.49323464
4RNA polymerase_Homo sapiens_hsa030204.09360778
5Mismatch repair_Homo sapiens_hsa034303.71402101
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.38924984
7* Spliceosome_Homo sapiens_hsa030403.19648132
8Pyrimidine metabolism_Homo sapiens_hsa002402.83574042
9Homologous recombination_Homo sapiens_hsa034402.82292830
10Nucleotide excision repair_Homo sapiens_hsa034202.76761124
11Base excision repair_Homo sapiens_hsa034102.75980464
12RNA transport_Homo sapiens_hsa030132.75232533
13Cell cycle_Homo sapiens_hsa041102.18988032
14One carbon pool by folate_Homo sapiens_hsa006702.07227188
15Basal transcription factors_Homo sapiens_hsa030222.04834129
16Oxidative phosphorylation_Homo sapiens_hsa001901.98226825
17Fanconi anemia pathway_Homo sapiens_hsa034601.97372666
18Parkinsons disease_Homo sapiens_hsa050121.89821825
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.87997517
20Protein export_Homo sapiens_hsa030601.86172714
21RNA degradation_Homo sapiens_hsa030181.80336315
22Non-homologous end-joining_Homo sapiens_hsa034501.66214914
23Huntingtons disease_Homo sapiens_hsa050161.65656879
24Purine metabolism_Homo sapiens_hsa002301.58218920
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.40659944
26p53 signaling pathway_Homo sapiens_hsa041151.31173386
27mRNA surveillance pathway_Homo sapiens_hsa030151.23188647
28Epstein-Barr virus infection_Homo sapiens_hsa051691.13463473
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.12594651
30Vitamin B6 metabolism_Homo sapiens_hsa007501.08035549
31Folate biosynthesis_Homo sapiens_hsa007901.07651693
32Pyruvate metabolism_Homo sapiens_hsa006201.07558771
33Alzheimers disease_Homo sapiens_hsa050101.04313875
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.01696147
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.98700640
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.90493014
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.89423191
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.89371470
39Cysteine and methionine metabolism_Homo sapiens_hsa002700.87335787
40Systemic lupus erythematosus_Homo sapiens_hsa053220.84683735
41Glutathione metabolism_Homo sapiens_hsa004800.82983769
42Drug metabolism - other enzymes_Homo sapiens_hsa009830.74557533
43Pentose phosphate pathway_Homo sapiens_hsa000300.74483482
44Sulfur relay system_Homo sapiens_hsa041220.69165277
45Bladder cancer_Homo sapiens_hsa052190.68943337
46Central carbon metabolism in cancer_Homo sapiens_hsa052300.65088213
47Oocyte meiosis_Homo sapiens_hsa041140.65001905
48Fatty acid elongation_Homo sapiens_hsa000620.62571573
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.58608539
50Herpes simplex infection_Homo sapiens_hsa051680.57630532
51Biosynthesis of amino acids_Homo sapiens_hsa012300.56169891
52Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54761453
53Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53012764
54Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51830241
55Metabolic pathways_Homo sapiens_hsa011000.51446436
56Viral carcinogenesis_Homo sapiens_hsa052030.50689434
57Cyanoamino acid metabolism_Homo sapiens_hsa004600.50155588
58Antigen processing and presentation_Homo sapiens_hsa046120.49428926
59Colorectal cancer_Homo sapiens_hsa052100.45061681
60Pancreatic cancer_Homo sapiens_hsa052120.44283336
61Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43512926
62Arachidonic acid metabolism_Homo sapiens_hsa005900.42660355
63Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41356783
64HTLV-I infection_Homo sapiens_hsa051660.38167872
65Chronic myeloid leukemia_Homo sapiens_hsa052200.36882715
66Cardiac muscle contraction_Homo sapiens_hsa042600.36678718
67Legionellosis_Homo sapiens_hsa051340.34741883
68Carbon metabolism_Homo sapiens_hsa012000.31764336
69N-Glycan biosynthesis_Homo sapiens_hsa005100.30500139
70Thyroid cancer_Homo sapiens_hsa052160.29769929
71Regulation of autophagy_Homo sapiens_hsa041400.28879747
72Primary immunodeficiency_Homo sapiens_hsa053400.26815486
73Linoleic acid metabolism_Homo sapiens_hsa005910.26163206
74Arginine and proline metabolism_Homo sapiens_hsa003300.26049107
75Fructose and mannose metabolism_Homo sapiens_hsa000510.25481543
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24807079
77Selenocompound metabolism_Homo sapiens_hsa004500.24698257
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.24583722
79Sulfur metabolism_Homo sapiens_hsa009200.24368304
80Prostate cancer_Homo sapiens_hsa052150.23636559
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.23163457
82Allograft rejection_Homo sapiens_hsa053300.22595830
83Alcoholism_Homo sapiens_hsa050340.22100417
84Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.20953201
85Asthma_Homo sapiens_hsa053100.20692731
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.19512403
87Apoptosis_Homo sapiens_hsa042100.19159144
88TGF-beta signaling pathway_Homo sapiens_hsa043500.19006157
89Non-small cell lung cancer_Homo sapiens_hsa052230.18594099
90Graft-versus-host disease_Homo sapiens_hsa053320.17396292
91Galactose metabolism_Homo sapiens_hsa000520.16741896
92Adherens junction_Homo sapiens_hsa045200.16613693
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.16494697
94Wnt signaling pathway_Homo sapiens_hsa043100.15127272
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.14524118
96Basal cell carcinoma_Homo sapiens_hsa052170.14016303
97Small cell lung cancer_Homo sapiens_hsa052220.13747580
98Hematopoietic cell lineage_Homo sapiens_hsa046400.13238769
99Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.13010343
100Acute myeloid leukemia_Homo sapiens_hsa052210.12860527
101Arginine biosynthesis_Homo sapiens_hsa002200.12529678
102Autoimmune thyroid disease_Homo sapiens_hsa053200.12424685
103RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.12421638
104Propanoate metabolism_Homo sapiens_hsa006400.12160240
105Steroid biosynthesis_Homo sapiens_hsa001000.12126330
106Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.11524771
107Shigellosis_Homo sapiens_hsa051310.11502516
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.10774045
1092-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.10500358
110Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.09559357
111NF-kappa B signaling pathway_Homo sapiens_hsa040640.09367879
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.07999605
113Hippo signaling pathway_Homo sapiens_hsa043900.07600240
114Measles_Homo sapiens_hsa051620.06976104
115Transcriptional misregulation in cancer_Homo sapiens_hsa052020.06772209
116NOD-like receptor signaling pathway_Homo sapiens_hsa046210.05887235
117Hedgehog signaling pathway_Homo sapiens_hsa043400.05588849
118MicroRNAs in cancer_Homo sapiens_hsa052060.05281167
119alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.05231159
120Sphingolipid metabolism_Homo sapiens_hsa006000.05212914
121Hepatitis B_Homo sapiens_hsa051610.04779331

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