PHB

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 is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.64902193
2ATP synthesis coupled proton transport (GO:0015986)5.06598205
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.06598205
4maturation of SSU-rRNA (GO:0030490)4.68313686
5oxidative phosphorylation (GO:0006119)4.61931256
6nucleobase biosynthetic process (GO:0046112)4.42562604
7ribosomal small subunit assembly (GO:0000028)4.39875581
8formation of translation preinitiation complex (GO:0001731)4.35869251
9purine nucleobase biosynthetic process (GO:0009113)4.26332861
10proteasome assembly (GO:0043248)4.23231632
11viral transcription (GO:0019083)4.19807091
12translational termination (GO:0006415)4.15041388
13ribosomal large subunit biogenesis (GO:0042273)4.04709304
14ribosomal small subunit biogenesis (GO:0042274)4.02762204
15translational elongation (GO:0006414)3.90173935
16establishment of protein localization to mitochondrial membrane (GO:0090151)3.88921756
17DNA strand elongation involved in DNA replication (GO:0006271)3.88129357
18respiratory electron transport chain (GO:0022904)3.86983299
19tricarboxylic acid cycle (GO:0006099)3.85491990
20negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.82004367
21ribosome assembly (GO:0042255)3.81398292
22IMP biosynthetic process (GO:0006188)3.79057780
23ribonucleoprotein complex biogenesis (GO:0022613)3.78117674
24DNA deamination (GO:0045006)3.77474638
25folic acid-containing compound biosynthetic process (GO:0009396)3.77200904
26electron transport chain (GO:0022900)3.75702664
27spliceosomal snRNP assembly (GO:0000387)3.75414668
28DNA replication initiation (GO:0006270)3.75272026
29translational initiation (GO:0006413)3.74539038
30establishment of viral latency (GO:0019043)3.73580308
31mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.71535497
32regulation of mitochondrial translation (GO:0070129)3.70929740
33ribosome biogenesis (GO:0042254)3.67680701
34DNA strand elongation (GO:0022616)3.65093053
35positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.62153122
36regulation of translational fidelity (GO:0006450)3.61962707
37establishment of integrated proviral latency (GO:0075713)3.61316065
38DNA unwinding involved in DNA replication (GO:0006268)3.60593913
39chaperone-mediated protein transport (GO:0072321)3.59662763
40anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.55679367
41regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.54683412
42cullin deneddylation (GO:0010388)3.53198508
43rRNA modification (GO:0000154)3.51099787
44negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.50936071
45negative regulation of ligase activity (GO:0051352)3.50936071
46telomere maintenance via semi-conservative replication (GO:0032201)3.50238646
47protein maturation by protein folding (GO:0022417)3.48279709
48rRNA processing (GO:0006364)3.46308127
49IMP metabolic process (GO:0046040)3.42773710
50translation (GO:0006412)3.42352367
51SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.41951766
52regulation of cellular amino acid metabolic process (GO:0006521)3.41608504
53pseudouridine synthesis (GO:0001522)3.40274608
54folic acid metabolic process (GO:0046655)3.37325980
55peptidyl-arginine omega-N-methylation (GO:0035247)3.37211324
56cotranslational protein targeting to membrane (GO:0006613)3.36745233
57protein deneddylation (GO:0000338)3.34724540
58cellular component biogenesis (GO:0044085)3.34159222
59protein targeting to ER (GO:0045047)3.33518559
60nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.32132747
61cellular protein complex disassembly (GO:0043624)3.31378533
62rRNA metabolic process (GO:0016072)3.30758834
63DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.30710807
64proline biosynthetic process (GO:0006561)3.27812899
65L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.25830781
66signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.24728827
67intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.24728827
68regulation of ubiquitin-protein transferase activity (GO:0051438)3.24205711
69regulation of translational termination (GO:0006449)3.24197812
70signal transduction involved in DNA damage checkpoint (GO:0072422)3.23529874
71signal transduction involved in DNA integrity checkpoint (GO:0072401)3.23529874
72signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.21547557
73signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.21547557
74signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.21547557
75positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.20028361
76viral life cycle (GO:0019058)3.19368827
77mitotic sister chromatid segregation (GO:0000070)3.18981618
78signal transduction involved in cell cycle checkpoint (GO:0072395)3.18782520
79glycine metabolic process (GO:0006544)3.17339661
80establishment of protein localization to endoplasmic reticulum (GO:0072599)3.16878535
81protein localization to endoplasmic reticulum (GO:0070972)3.16488418
82L-serine metabolic process (GO:0006563)3.15739147
83mitotic recombination (GO:0006312)3.14980280
84spliceosomal complex assembly (GO:0000245)3.14390085
85mitotic chromosome condensation (GO:0007076)3.13036146
86transcription elongation from RNA polymerase III promoter (GO:0006385)3.12454817
87termination of RNA polymerase III transcription (GO:0006386)3.12454817
88regulation of ligase activity (GO:0051340)3.11895160
89protein complex localization (GO:0031503)3.11442051
90viral mRNA export from host cell nucleus (GO:0046784)3.10627487
91DNA replication checkpoint (GO:0000076)3.09177831
92histone arginine methylation (GO:0034969)3.08144705
93establishment of protein localization to mitochondrion (GO:0072655)3.07734394
94NADH metabolic process (GO:0006734)3.07707303
95protein localization to kinetochore (GO:0034501)3.07149490
96DNA replication-dependent nucleosome organization (GO:0034723)3.07064251
97DNA replication-dependent nucleosome assembly (GO:0006335)3.07064251
98positive regulation of ligase activity (GO:0051351)3.04667733
99NADH dehydrogenase complex assembly (GO:0010257)3.04088611
100mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.04088611
101mitochondrial respiratory chain complex I assembly (GO:0032981)3.04088611
102pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.03342495
103tRNA aminoacylation for protein translation (GO:0006418)3.02186247
104protein localization to chromosome, centromeric region (GO:0071459)3.01705089
105deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.00729430
106G1/S transition of mitotic cell cycle (GO:0000082)2.99778074
107cell cycle G1/S phase transition (GO:0044843)2.99778074
108amino acid salvage (GO:0043102)2.98189359
109L-methionine salvage (GO:0071267)2.98189359
110L-methionine biosynthetic process (GO:0071265)2.98189359
111mitotic metaphase plate congression (GO:0007080)2.97653987
112protein targeting to mitochondrion (GO:0006626)2.97545951
113transcription-coupled nucleotide-excision repair (GO:0006283)2.96936646
114protein localization to mitochondrion (GO:0070585)2.96267058
115telomere maintenance via recombination (GO:0000722)2.96093861
116mitotic nuclear envelope disassembly (GO:0007077)2.95731693
117amino acid activation (GO:0043038)2.95405940
118tRNA aminoacylation (GO:0043039)2.95405940
119CENP-A containing nucleosome assembly (GO:0034080)2.95003557
120nucleobase-containing small molecule interconversion (GO:0015949)2.93998099
121maturation of 5.8S rRNA (GO:0000460)2.93615387
122chromatin remodeling at centromere (GO:0031055)2.90974559
123purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.90490953
124purine nucleoside monophosphate biosynthetic process (GO:0009127)2.90490953
125pteridine-containing compound biosynthetic process (GO:0042559)2.90181653
126protein complex disassembly (GO:0043241)2.89534549
1277-methylguanosine mRNA capping (GO:0006370)2.88803268

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.60036464
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.75454071
3* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.35937443
4* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.81079328
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.41208465
6* EST1_17652178_ChIP-ChIP_JURKAT_Human3.36691944
7* ETS1_20019798_ChIP-Seq_JURKAT_Human3.28843739
8MYC_19079543_ChIP-ChIP_MESCs_Mouse3.22921529
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.20855937
10GABP_17652178_ChIP-ChIP_JURKAT_Human3.20633294
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.11152477
12* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.05394409
13* HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.81316699
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.65861222
15* NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.62448650
16* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.61153650
17XRN2_22483619_ChIP-Seq_HELA_Human2.48464692
18NELFA_20434984_ChIP-Seq_ESCs_Mouse2.47337570
19* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.39688647
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.37223155
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.35571879
22PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.28761663
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.26259903
24* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.23000428
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.21320236
26VDR_23849224_ChIP-Seq_CD4+_Human2.17525644
27DCP1A_22483619_ChIP-Seq_HELA_Human2.17290239
28YY1_21170310_ChIP-Seq_MESCs_Mouse2.06298328
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.05763962
30NANOG_18555785_ChIP-Seq_MESCs_Mouse1.96013436
31SRF_21415370_ChIP-Seq_HL-1_Mouse1.94459248
32ELF1_17652178_ChIP-ChIP_JURKAT_Human1.92657840
33FOXP3_21729870_ChIP-Seq_TREG_Human1.92199376
34GABP_19822575_ChIP-Seq_HepG2_Human1.88870851
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.88561496
36ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.88229324
37AR_21909140_ChIP-Seq_LNCAP_Human1.86877341
38TTF2_22483619_ChIP-Seq_HELA_Human1.86459447
39CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.82491691
40MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.80001245
41POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.77767956
42MYCN_18555785_ChIP-Seq_MESCs_Mouse1.75747359
43STAT3_1855785_ChIP-Seq_MESCs_Mouse1.74363436
44PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.65967639
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.63662493
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.61518320
47PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61258238
48* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.59507353
49MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.49358895
50ELK1_19687146_ChIP-ChIP_HELA_Human1.43906966
51CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.41531396
52SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.40110949
53ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.38328411
54TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.37542081
55* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.36964082
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.35851086
57FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.35499017
58CIITA_25753668_ChIP-Seq_RAJI_Human1.34497488
59* E2F1_21310950_ChIP-Seq_MCF-7_Human1.33308913
60TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.31818561
61KDM5A_27292631_Chip-Seq_BREAST_Human1.31068800
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.27943051
63CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.26745952
64SOX2_18555785_ChIP-Seq_MESCs_Mouse1.26693545
65* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.26493828
66KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.25471813
67NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.25389723
68SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.24810395
69CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.19180229
70* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15680777
71* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.15375625
72* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.15342733
73TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13933975
74ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13836027
75KLF4_18555785_ChIP-Seq_MESCs_Mouse1.13268557
76CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.10699533
77CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.10320627
78KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.09160067
79TCF3_18692474_ChIP-Seq_MEFs_Mouse1.09109361
80* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.07980191
81PADI4_21655091_ChIP-ChIP_MCF-7_Human1.07562927
82DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.07085016
83ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.06142900
84CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.05886666
85ELK1_22589737_ChIP-Seq_MCF10A_Human1.04684442
86* SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.04296952
87HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.03205187
88* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.02192002
89* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01759368
90NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.01056345
91NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.00588629
92MYC_18940864_ChIP-ChIP_HL60_Human0.99516684
93CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99300699
94DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.99212363
95MYC_22102868_ChIP-Seq_BL_Human0.98961218
96SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.98755215
97CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.98104972
98TBX5_21415370_ChIP-Seq_HL-1_Mouse0.96575231
99PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.96561857
100CTCF_18555785_ChIP-Seq_MESCs_Mouse0.96196260
101TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95787067
102TFEB_21752829_ChIP-Seq_HELA_Human0.95685909
103RBPJ_22232070_ChIP-Seq_NCS_Mouse0.95031356
104* TET1_21451524_ChIP-Seq_MESCs_Mouse0.93307255
105MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.93164930
106ESR1_15608294_ChIP-ChIP_MCF-7_Human0.91934100
107NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.91692238
108ZNF263_19887448_ChIP-Seq_K562_Human0.91105102
109SOX17_20123909_ChIP-Seq_XEN_Mouse0.91050639
110* FOXP1_21924763_ChIP-Seq_HESCs_Human0.89909686
111E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.89233807
112SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.87984822
113SRY_22984422_ChIP-ChIP_TESTIS_Rat0.87750938

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.93216211
2MP0003693_abnormal_embryo_hatching4.09838033
3MP0004957_abnormal_blastocyst_morpholog3.95880241
4MP0010094_abnormal_chromosome_stability3.24461386
5MP0003111_abnormal_nucleus_morphology3.20308066
6MP0003077_abnormal_cell_cycle2.97198144
7MP0004084_abnormal_cardiac_muscle2.95123162
8MP0006036_abnormal_mitochondrial_physio2.91121086
9MP0003646_muscle_fatigue2.83708868
10MP0002837_dystrophic_cardiac_calcinosis2.63665145
11MP0008932_abnormal_embryonic_tissue2.53274055
12MP0006035_abnormal_mitochondrial_morpho2.52914560
13MP0008058_abnormal_DNA_repair2.51191084
14MP0003186_abnormal_redox_activity2.42257870
15MP0003123_paternal_imprinting2.29764179
16MP0008057_abnormal_DNA_replication2.28351222
17MP0005330_cardiomyopathy2.20677832
18MP0003718_maternal_effect2.20565363
19MP0001730_embryonic_growth_arrest2.15563418
20MP0000749_muscle_degeneration1.94419455
21MP0003221_abnormal_cardiomyocyte_apopto1.93132693
22MP0005451_abnormal_body_composition1.92661563
23MP0004215_abnormal_myocardial_fiber1.92070764
24MP0002877_abnormal_melanocyte_morpholog1.91327105
25MP0000750_abnormal_muscle_regeneration1.90357628
26MP0008007_abnormal_cellular_replicative1.85031421
27MP0000751_myopathy1.81896508
28MP0004036_abnormal_muscle_relaxation1.77637321
29MP0003786_premature_aging1.77155035
30MP0002269_muscular_atrophy1.66199179
31MP0005266_abnormal_metabolism1.63181003
32MP0002139_abnormal_hepatobiliary_system1.62004099
33MP0005360_urolithiasis1.56073801
34MP0005501_abnormal_skin_physiology1.53076920
35MP0000350_abnormal_cell_proliferation1.50088545
36MP0010234_abnormal_vibrissa_follicle1.48620781
37MP0001697_abnormal_embryo_size1.47201061
38MP0005332_abnormal_amino_acid1.45828256
39MP0005380_embryogenesis_phenotype1.44734251
40MP0001672_abnormal_embryogenesis/_devel1.44734251
41MP0002796_impaired_skin_barrier1.44516681
42MP0003567_abnormal_fetal_cardiomyocyte1.43146690
43MP0004133_heterotaxia1.41614866
44MP0009379_abnormal_foot_pigmentation1.39750567
45MP0003984_embryonic_growth_retardation1.39317722
46MP0010030_abnormal_orbit_morphology1.38394193
47MP0002080_prenatal_lethality1.37225878
48MP0000358_abnormal_cell_content/1.36762669
49MP0001661_extended_life_span1.36652003
50MP0005670_abnormal_white_adipose1.36241315
51MP0001529_abnormal_vocalization1.35778715
52MP0002088_abnormal_embryonic_growth/wei1.35546909
53MP0008775_abnormal_heart_ventricle1.34014496
54MP0005085_abnormal_gallbladder_physiolo1.31452399
55MP0001764_abnormal_homeostasis1.27354640
56MP0001346_abnormal_lacrimal_gland1.26451364
57MP0001544_abnormal_cardiovascular_syste1.22664922
58MP0005385_cardiovascular_system_phenoty1.22664922
59MP0004087_abnormal_muscle_fiber1.22496395
60MP0004185_abnormal_adipocyte_glucose1.21478524
61MP0000372_irregular_coat_pigmentation1.21333449
62MP0000747_muscle_weakness1.20896829
63MP0000537_abnormal_urethra_morphology1.15853230
64MP0003137_abnormal_impulse_conducting1.15793162
65MP0002332_abnormal_exercise_endurance1.14755294
66MP0002938_white_spotting1.14078362
67MP0002085_abnormal_embryonic_tissue1.09665937
68MP0001881_abnormal_mammary_gland1.08694062
69MP0004233_abnormal_muscle_weight1.05468750
70MP0010307_abnormal_tumor_latency1.04971029
71MP0010630_abnormal_cardiac_muscle1.04528146
72MP0008260_abnormal_autophagy1.03559049
73MP0003315_abnormal_perineum_morphology1.03232804
74MP0002972_abnormal_cardiac_muscle1.02818892
75MP0002106_abnormal_muscle_physiology1.02418080
76MP0000313_abnormal_cell_death0.98907120
77MP0001727_abnormal_embryo_implantation0.98424638
78MP0005319_abnormal_enzyme/_coenzyme0.97981041
79MP0004197_abnormal_fetal_growth/weight/0.97730348
80MP0004147_increased_porphyrin_level0.97452662
81MP0010352_gastrointestinal_tract_polyps0.96959391
82MP0000678_abnormal_parathyroid_gland0.95486280
83MP0006138_congestive_heart_failure0.94643554
84MP0002084_abnormal_developmental_patter0.94616734
85MP0009840_abnormal_foam_cell0.91845232
86MP0002697_abnormal_eye_size0.91140646
87MP0003941_abnormal_skin_development0.90622224
88MP0005376_homeostasis/metabolism_phenot0.90292991
89MP0002086_abnormal_extraembryonic_tissu0.89814674
90MP0002127_abnormal_cardiovascular_syste0.88960280
91MP0003705_abnormal_hypodermis_morpholog0.88671955
92MP0008875_abnormal_xenobiotic_pharmacok0.87441473
93MP0005620_abnormal_muscle_contractility0.85894273
94MP0005257_abnormal_intraocular_pressure0.85659521
95MP0003937_abnormal_limbs/digits/tail_de0.85089491
96MP0009333_abnormal_splenocyte_physiolog0.84563611
97MP0000759_abnormal_skeletal_muscle0.84549058
98MP0005666_abnormal_adipose_tissue0.83719786
99MP0000762_abnormal_tongue_morphology0.80679890
100MP0003136_yellow_coat_color0.79779235
101MP0003119_abnormal_digestive_system0.78735711
102MP0005369_muscle_phenotype0.78725076
103MP0005384_cellular_phenotype0.78553606
104MP0008877_abnormal_DNA_methylation0.77598975
105MP0001849_ear_inflammation0.76710688
106MP0002019_abnormal_tumor_incidence0.76078098
107MP0002396_abnormal_hematopoietic_system0.75743429
108MP0009697_abnormal_copulation0.73867748
109MP0009643_abnormal_urine_homeostasis0.72661383
110MP0001293_anophthalmia0.72212916
111MP0004272_abnormal_basement_membrane0.71431550
112MP0005408_hypopigmentation0.70182247
113MP0002210_abnormal_sex_determination0.70127029
114MP0003566_abnormal_cell_adhesion0.70119123
115MP0003950_abnormal_plasma_membrane0.69817538
116MP0004264_abnormal_extraembryonic_tissu0.69033773
117MP0006292_abnormal_olfactory_placode0.68927154
118MP0005365_abnormal_bile_salt0.66747142
119MP0004043_abnormal_pH_regulation0.66429718
120MP0000579_abnormal_nail_morphology0.65969027
121MP0002060_abnormal_skin_morphology0.65916021
122MP0005083_abnormal_biliary_tract0.65645877
123* MP0000627_abnormal_mammary_gland0.64438768
124MP0002160_abnormal_reproductive_system0.63583528
125MP0005395_other_phenotype0.63103338
126MP0005076_abnormal_cell_differentiation0.62533900
127MP0009053_abnormal_anal_canal0.62421768
128MP0002092_abnormal_eye_morphology0.62004862
129MP0005058_abnormal_lysosome_morphology0.61921285
130MP0001853_heart_inflammation0.61847598
131MP0002111_abnormal_tail_morphology0.60628327
132MP0009672_abnormal_birth_weight0.60498933
133MP0000467_abnormal_esophagus_morphology0.60109434
134MP0003195_calcinosis0.59777033
135MP0002234_abnormal_pharynx_morphology0.59375796
136MP0002098_abnormal_vibrissa_morphology0.59260521
137MP0000490_abnormal_crypts_of0.59246580
138MP0003385_abnormal_body_wall0.59098749
139MP0003942_abnormal_urinary_system0.58883150
140MP0005621_abnormal_cell_physiology0.58836632
141MP0004782_abnormal_surfactant_physiolog0.58192028
142MP0001145_abnormal_male_reproductive0.58155517
143MP0001186_pigmentation_phenotype0.56791906
144MP0001216_abnormal_epidermal_layer0.56553219

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.01865170
2Abnormality of glycolysis (HP:0004366)4.85978360
3Increased serum pyruvate (HP:0003542)4.85978360
4Abnormal mitochondria in muscle tissue (HP:0008316)4.81282192
5Acute encephalopathy (HP:0006846)4.63680951
6Hepatic necrosis (HP:0002605)4.50933623
7Hepatocellular necrosis (HP:0001404)4.50210762
8Mitochondrial inheritance (HP:0001427)4.46883691
9Increased CSF lactate (HP:0002490)4.36273422
10Cerebral edema (HP:0002181)4.02854614
11Progressive macrocephaly (HP:0004481)3.92122738
12Abnormality of cells of the erythroid lineage (HP:0012130)3.80495774
13Increased serum lactate (HP:0002151)3.79603225
14Abnormal number of erythroid precursors (HP:0012131)3.61926908
15Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.59930480
16Decreased activity of mitochondrial respiratory chain (HP:0008972)3.59930480
17Lactic acidosis (HP:0003128)3.54521661
18Lipid accumulation in hepatocytes (HP:0006561)3.38172151
19Exercise intolerance (HP:0003546)3.36720978
20Rhabdomyolysis (HP:0003201)3.35412254
21Reticulocytopenia (HP:0001896)3.35162994
22Increased hepatocellular lipid droplets (HP:0006565)3.29677862
23Respiratory failure (HP:0002878)3.21709189
24Oral leukoplakia (HP:0002745)3.19331174
25Birth length less than 3rd percentile (HP:0003561)3.18678898
26Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.18102521
27Multiple enchondromatosis (HP:0005701)3.17454736
28Cerebral hypomyelination (HP:0006808)3.16654452
29Increased intramyocellular lipid droplets (HP:0012240)3.14520781
30Increased muscle lipid content (HP:0009058)3.14200098
31Type I transferrin isoform profile (HP:0003642)3.10945441
32Chromosomal breakage induced by crosslinking agents (HP:0003221)3.10807745
33Aplasia/Hypoplasia of the sacrum (HP:0008517)3.03912702
34Breast hypoplasia (HP:0003187)2.96071260
35Lethargy (HP:0001254)2.92575087
36Hyperglycinuria (HP:0003108)2.90394333
37CNS demyelination (HP:0007305)2.88818670
38Macrocytic anemia (HP:0001972)2.82307693
39Reduced antithrombin III activity (HP:0001976)2.81960270
40Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.81156836
41Chromsome breakage (HP:0040012)2.75875362
42Myoglobinuria (HP:0002913)2.74116356
43Dicarboxylic aciduria (HP:0003215)2.73082208
44Abnormality of dicarboxylic acid metabolism (HP:0010995)2.73082208
45Leukodystrophy (HP:0002415)2.70647856
46Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.70484726
47Abnormality of alanine metabolism (HP:0010916)2.70484726
48Hyperalaninemia (HP:0003348)2.70484726
49Abnormal gallbladder physiology (HP:0012438)2.68009032
50Cholecystitis (HP:0001082)2.68009032
51Abnormality of the umbilical cord (HP:0010881)2.61640235
523-Methylglutaconic aciduria (HP:0003535)2.61522434
53Hyperammonemia (HP:0001987)2.61201534
54Abnormality of glycine metabolism (HP:0010895)2.60818767
55Abnormality of serine family amino acid metabolism (HP:0010894)2.60818767
56Nausea (HP:0002018)2.56514340
57Sparse eyelashes (HP:0000653)2.49102054
58Palpitations (HP:0001962)2.48373857
59Facial cleft (HP:0002006)2.46623227
60Carpal bone hypoplasia (HP:0001498)2.43922282
61Ventricular tachycardia (HP:0004756)2.43760690
62Ragged-red muscle fibers (HP:0003200)2.40608704
63Hyperglycinemia (HP:0002154)2.40152470
64Abnormality of fatty-acid metabolism (HP:0004359)2.40120996
65Emotional lability (HP:0000712)2.39959889
66Rough bone trabeculation (HP:0100670)2.39559212
67Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.38665660
68Abnormal protein N-linked glycosylation (HP:0012347)2.38665660
69Abnormal protein glycosylation (HP:0012346)2.38665660
70Abnormal glycosylation (HP:0012345)2.38665660
71Abnormal umbilical cord blood vessels (HP:0011403)2.37153280
72Single umbilical artery (HP:0001195)2.37153280
73Abnormality of the fetal cardiovascular system (HP:0010948)2.37153280
74Microvesicular hepatic steatosis (HP:0001414)2.35637981
75Exercise-induced muscle cramps (HP:0003710)2.34043316
76Progressive muscle weakness (HP:0003323)2.31783347
77Abnormality of methionine metabolism (HP:0010901)2.27736434
78Abnormality of the preputium (HP:0100587)2.26052687
79Abnormality of serum amino acid levels (HP:0003112)2.23943131
80Abnormalities of placenta or umbilical cord (HP:0001194)2.23793996
81Selective tooth agenesis (HP:0001592)2.22730033
82Sudden death (HP:0001699)2.20913175
83Proximal tubulopathy (HP:0000114)2.19188937
84Abnormality of pyrimidine metabolism (HP:0004353)2.18812719
85Respiratory difficulties (HP:0002880)2.12881134
86Meckel diverticulum (HP:0002245)2.12493077
87Renal Fanconi syndrome (HP:0001994)2.11759708
88Pancytopenia (HP:0001876)2.11729591
89Optic disc pallor (HP:0000543)2.07255941
90Pallor (HP:0000980)2.07186226
91Muscle fiber splitting (HP:0003555)2.05273860
92Ependymoma (HP:0002888)2.04003083
93Hypoplasia of the capital femoral epiphysis (HP:0003090)2.03603016
94Adenoma sebaceum (HP:0009720)2.02733469
95Angiofibromas (HP:0010615)2.02733469
96Gout (HP:0001997)2.01089791
97Trismus (HP:0000211)2.00334054
98Abnormality of the ileum (HP:0001549)1.97046055
99Vomiting (HP:0002013)1.95239514
100Proximal placement of thumb (HP:0009623)1.94245417
101Progressive external ophthalmoplegia (HP:0000590)1.93943610
102Exertional dyspnea (HP:0002875)1.93414594
103Abnormality of urine glucose concentration (HP:0011016)1.91112077
104Glycosuria (HP:0003076)1.91112077
105Megaloblastic anemia (HP:0001889)1.90816294
106Deviation of the thumb (HP:0009603)1.89238559
107Lipoatrophy (HP:0100578)1.88517624
108Secondary amenorrhea (HP:0000869)1.88460393
109Colon cancer (HP:0003003)1.88130018
110Premature ovarian failure (HP:0008209)1.86998962
111Hypobetalipoproteinemia (HP:0003563)1.85827886
112Horseshoe kidney (HP:0000085)1.85707666
113Gliosis (HP:0002171)1.85409896
114Aplastic anemia (HP:0001915)1.85170341
115Microretrognathia (HP:0000308)1.84724888
116Generalized aminoaciduria (HP:0002909)1.83771979
117CNS hypomyelination (HP:0003429)1.82952880
118Cleft eyelid (HP:0000625)1.78439712
119Conjunctival hamartoma (HP:0100780)1.76943659
120Abnormality of the anterior horn cell (HP:0006802)1.76694271
121Degeneration of anterior horn cells (HP:0002398)1.76694271
122Testicular atrophy (HP:0000029)1.75938327
123Abnormal trabecular bone morphology (HP:0100671)1.75564338
124Abnormal number of incisors (HP:0011064)1.73593010
125Spastic diplegia (HP:0001264)1.72774715
126Abnormality of reticulocytes (HP:0004312)1.72033575
127Hypoglycemic coma (HP:0001325)1.71914330
128Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.71151426
129Delayed CNS myelination (HP:0002188)1.70940195
130Death in infancy (HP:0001522)1.70657355
131Patellar aplasia (HP:0006443)1.69387300
132Hypokinesia (HP:0002375)1.68497436
133Squamous cell carcinoma (HP:0002860)1.68452572
134Abnormality of aromatic amino acid family metabolism (HP:0004338)1.68121313
135Septate vagina (HP:0001153)1.66741210
136Aplasia/Hypoplasia of the uvula (HP:0010293)1.65352797
137Spastic paraparesis (HP:0002313)1.62445803
138Fasciculations (HP:0002380)1.62358253
139Opisthotonus (HP:0002179)1.60928798
140Absent radius (HP:0003974)1.60729454
141Absent thumb (HP:0009777)1.60290566
142Increased nuchal translucency (HP:0010880)1.56501385
143Amniotic constriction ring (HP:0009775)1.56049895

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.22974039
2VRK24.29774135
3WEE13.64059859
4EIF2AK13.40556323
5NEK13.39669678
6BCKDK3.29441488
7NME23.01060506
8STK162.93673359
9TSSK62.70443555
10CDC72.34784943
11SMG12.27833991
12TESK22.20161785
13SRPK12.18777599
14PDK31.93829919
15PDK41.93829919
16TTK1.88700152
17PLK41.82654143
18TLK11.81359172
19EPHA21.76006064
20VRK11.70752031
21NME11.67586798
22MST1R1.66424709
23PLK11.57882920
24RPS6KB21.56468420
25OBSCN1.50382463
26EIF2AK31.49386225
27BRSK21.44301781
28MYLK1.42019744
29IRAK31.37297590
30KDR1.34887647
31AURKB1.34326277
32PKN21.33386386
33TTN1.31053947
34AURKA1.29878766
35ZAK1.27204557
36CDK71.25084522
37PAK41.23477903
38PLK31.19666478
39STK38L1.19200923
40NEK21.18742550
41PDK21.14675731
42PBK1.13623689
43TAF11.12172295
44PIM21.11010254
45MKNK11.10099822
46MAP3K111.08345589
47MAP3K81.05024614
48LIMK11.04392100
49DAPK11.00766575
50MAPKAPK30.98986721
51ATR0.98408314
52STK40.96428930
53MST40.96367319
54ILK0.93466235
55TESK10.85574344
56BRSK10.84752192
57ICK0.84371618
58ACVR1B0.83704144
59TGFBR10.83234685
60PNCK0.82924463
61FLT30.82800831
62CSNK2A20.81481779
63CDK40.78438907
64DYRK30.76937015
65PASK0.74013440
66ALK0.73851096
67SCYL20.73658940
68CSNK2A10.73563066
69LMTK20.72277255
70ABL20.71526021
71LRRK20.70917829
72WNK30.70805463
73PAK10.69464737
74CHEK10.68832139
75BRAF0.68812278
76CHEK20.68413961
77TAOK20.65357542
78CSNK1G30.63956824
79AKT20.61425609
80PRKCI0.58692731
81MAP2K30.58019736
82DAPK30.57607748
83MAP3K100.57110345
84MAP3K120.56913878
85LATS20.56342020
86PINK10.53158971
87DYRK20.52143008
88PHKG10.50644264
89PHKG20.50644264
90CCNB10.49862551
91STK100.49843640
92ARAF0.49730286
93CDK120.49572980
94TRIM280.48763317
95CSNK1E0.48052843
96CSNK1A1L0.47450000
97EIF2AK20.46847627
98RPS6KA40.46587400
99CDK20.45877633
100PTK20.45322558
101RPS6KA50.45286549
102ATM0.42994027
103MKNK20.42774817
104CSNK1G10.42660341
105MAP3K30.40974449
106EEF2K0.40284576
107ERBB40.38807382
108CLK10.38440060
109WNK40.35424873
110SIK10.34242592
111NUAK10.33663514
112STK240.33069644
113CDK10.32982688
114MET0.32943250
115CDK80.32276743
116CDK90.30858059
117PIM10.30644340
118MAP3K50.30052232
119CDK11A0.28933657
120MAP2K20.28747088
121CDK140.27627007
122MTOR0.26173377
123CDK180.26102618
124CDK150.26004917
125MAP2K60.23412905
126TRIB30.23062689

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.70007580
2Ribosome_Homo sapiens_hsa030103.45592071
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.18327320
4DNA replication_Homo sapiens_hsa030303.09597656
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.97103825
6Oxidative phosphorylation_Homo sapiens_hsa001902.88089741
7RNA polymerase_Homo sapiens_hsa030202.81779511
8Parkinsons disease_Homo sapiens_hsa050122.76853761
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.67026855
10Mismatch repair_Homo sapiens_hsa034302.66934991
11Spliceosome_Homo sapiens_hsa030402.20158357
12One carbon pool by folate_Homo sapiens_hsa006702.19367965
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.14281202
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.13820473
15Carbon metabolism_Homo sapiens_hsa012002.02534467
16RNA transport_Homo sapiens_hsa030132.01140837
17Pyrimidine metabolism_Homo sapiens_hsa002402.00201817
18Huntingtons disease_Homo sapiens_hsa050161.99300932
19Nucleotide excision repair_Homo sapiens_hsa034201.87211031
20Biosynthesis of amino acids_Homo sapiens_hsa012301.85870834
21Propanoate metabolism_Homo sapiens_hsa006401.83085449
22Pyruvate metabolism_Homo sapiens_hsa006201.72343104
23Homologous recombination_Homo sapiens_hsa034401.71384779
24Base excision repair_Homo sapiens_hsa034101.70466416
25Alzheimers disease_Homo sapiens_hsa050101.64630440
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.62721237
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.61625559
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.59523851
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.59308431
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.53954453
31Cyanoamino acid metabolism_Homo sapiens_hsa004601.42334685
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39885218
33Fatty acid degradation_Homo sapiens_hsa000711.38204581
34Cardiac muscle contraction_Homo sapiens_hsa042601.33741796
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.29448280
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.24351029
37Cell cycle_Homo sapiens_hsa041101.17208572
38Folate biosynthesis_Homo sapiens_hsa007901.15629034
39Fatty acid elongation_Homo sapiens_hsa000621.12681342
40RNA degradation_Homo sapiens_hsa030181.11999586
41Glutathione metabolism_Homo sapiens_hsa004801.08739834
42Pentose phosphate pathway_Homo sapiens_hsa000301.05735301
43Fatty acid metabolism_Homo sapiens_hsa012121.05049592
44Butanoate metabolism_Homo sapiens_hsa006501.01846064
45Purine metabolism_Homo sapiens_hsa002301.01701252
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.01668699
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.01538819
48Fanconi anemia pathway_Homo sapiens_hsa034600.99406988
49Arginine and proline metabolism_Homo sapiens_hsa003300.95566759
50Sulfur relay system_Homo sapiens_hsa041220.93701211
51Non-homologous end-joining_Homo sapiens_hsa034500.93176930
52Basal transcription factors_Homo sapiens_hsa030220.93072383
53N-Glycan biosynthesis_Homo sapiens_hsa005100.92828701
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92694091
55Phenylalanine metabolism_Homo sapiens_hsa003600.86369081
56beta-Alanine metabolism_Homo sapiens_hsa004100.84605127
57Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.84550192
58Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.84047833
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.81888314
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.80869198
61Peroxisome_Homo sapiens_hsa041460.79130480
62Metabolic pathways_Homo sapiens_hsa011000.77811452
63Selenocompound metabolism_Homo sapiens_hsa004500.77466643
64Fructose and mannose metabolism_Homo sapiens_hsa000510.76162284
65Tyrosine metabolism_Homo sapiens_hsa003500.72930581
66Systemic lupus erythematosus_Homo sapiens_hsa053220.72121990
67Tryptophan metabolism_Homo sapiens_hsa003800.70672752
68Arginine biosynthesis_Homo sapiens_hsa002200.68649662
69Vitamin B6 metabolism_Homo sapiens_hsa007500.67721740
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.66950155
71Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.65635061
72mRNA surveillance pathway_Homo sapiens_hsa030150.65048168
73Epstein-Barr virus infection_Homo sapiens_hsa051690.54662670
74Protein export_Homo sapiens_hsa030600.53543355
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.51463395
76p53 signaling pathway_Homo sapiens_hsa041150.51110847
77Thyroid cancer_Homo sapiens_hsa052160.50687780
78Galactose metabolism_Homo sapiens_hsa000520.46897698
79Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.46661706
80Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.42015521
81Primary bile acid biosynthesis_Homo sapiens_hsa001200.41679888
82Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.38865634
83Chemical carcinogenesis_Homo sapiens_hsa052040.38238414
84PPAR signaling pathway_Homo sapiens_hsa033200.38015157
85Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37566386
86Vibrio cholerae infection_Homo sapiens_hsa051100.37216710
87Fat digestion and absorption_Homo sapiens_hsa049750.33252178
88Steroid biosynthesis_Homo sapiens_hsa001000.31231253
89Bladder cancer_Homo sapiens_hsa052190.30278617
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.25505373
91Lysine degradation_Homo sapiens_hsa003100.23460222
92Starch and sucrose metabolism_Homo sapiens_hsa005000.23193985
93Histidine metabolism_Homo sapiens_hsa003400.21225591
94Oocyte meiosis_Homo sapiens_hsa041140.19415062
95Viral carcinogenesis_Homo sapiens_hsa052030.19358015
96Retinol metabolism_Homo sapiens_hsa008300.18532879
97Vitamin digestion and absorption_Homo sapiens_hsa049770.18311764
98Sulfur metabolism_Homo sapiens_hsa009200.17035405
99Arachidonic acid metabolism_Homo sapiens_hsa005900.14867560
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.14867149
101Hippo signaling pathway_Homo sapiens_hsa043900.10765942
102Basal cell carcinoma_Homo sapiens_hsa052170.09722118
103HTLV-I infection_Homo sapiens_hsa051660.09546620
104Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.09533147
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.08580421
106Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.08428793
107Steroid hormone biosynthesis_Homo sapiens_hsa001400.08185279
108Small cell lung cancer_Homo sapiens_hsa052220.08160446
109HIF-1 signaling pathway_Homo sapiens_hsa040660.05882873
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.05733828
111Apoptosis_Homo sapiens_hsa042100.05669864
112Shigellosis_Homo sapiens_hsa051310.05645593
113Alcoholism_Homo sapiens_hsa050340.04902978
114Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.02193672

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