FAM136A

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 mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)4.93174896
2nucleobase biosynthetic process (GO:0046112)4.84435671
3purine nucleobase biosynthetic process (GO:0009113)4.73256472
4DNA strand elongation involved in DNA replication (GO:0006271)4.57468905
5DNA deamination (GO:0045006)4.54789717
6formation of translation preinitiation complex (GO:0001731)4.49051494
7proteasome assembly (GO:0043248)4.39759293
8DNA strand elongation (GO:0022616)4.37609520
9maturation of SSU-rRNA (GO:0030490)4.35821816
10telomere maintenance via semi-conservative replication (GO:0032201)4.35623676
11DNA replication initiation (GO:0006270)4.14164518
12ribosomal large subunit biogenesis (GO:0042273)3.91400002
13folic acid-containing compound biosynthetic process (GO:0009396)3.87766685
14establishment of viral latency (GO:0019043)3.87586344
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.87249278
16telomere maintenance via recombination (GO:0000722)3.85022457
17IMP biosynthetic process (GO:0006188)3.83975451
18DNA unwinding involved in DNA replication (GO:0006268)3.82642361
19ribosome biogenesis (GO:0042254)3.81544650
20CENP-A containing nucleosome assembly (GO:0034080)3.79471331
21establishment of protein localization to mitochondrial membrane (GO:0090151)3.75379979
22chromatin remodeling at centromere (GO:0031055)3.74181324
23ribonucleoprotein complex biogenesis (GO:0022613)3.72620888
24positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.71498987
25DNA replication checkpoint (GO:0000076)3.70019149
26ribosome assembly (GO:0042255)3.69256826
27regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.68855732
28cullin deneddylation (GO:0010388)3.67704520
29viral transcription (GO:0019083)3.65755319
30anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.64481222
31translational termination (GO:0006415)3.63990050
32telomere maintenance via telomere lengthening (GO:0010833)3.62119871
33protein deneddylation (GO:0000338)3.61882407
34chaperone-mediated protein transport (GO:0072321)3.57171535
35rRNA modification (GO:0000154)3.57157497
36mitotic recombination (GO:0006312)3.55280054
37spliceosomal snRNP assembly (GO:0000387)3.53107797
38regulation of cellular amino acid metabolic process (GO:0006521)3.52237070
39ribosomal small subunit biogenesis (GO:0042274)3.50830652
40mitotic metaphase plate congression (GO:0007080)3.49178009
41DNA ligation (GO:0006266)3.48241333
42negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.48050441
43negative regulation of ligase activity (GO:0051352)3.48050441
44translational elongation (GO:0006414)3.46266917
45DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.43693541
46ATP synthesis coupled proton transport (GO:0015986)3.43472636
47energy coupled proton transport, down electrochemical gradient (GO:0015985)3.43472636
48DNA damage response, detection of DNA damage (GO:0042769)3.42169755
49pseudouridine synthesis (GO:0001522)3.41471363
50establishment of integrated proviral latency (GO:0075713)3.40770917
51signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.39212066
52intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.39212066
53translational initiation (GO:0006413)3.38927689
54rRNA processing (GO:0006364)3.37816605
55DNA replication-dependent nucleosome organization (GO:0034723)3.36730975
56DNA replication-dependent nucleosome assembly (GO:0006335)3.36730975
57IMP metabolic process (GO:0046040)3.36319071
58signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.35950583
59signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.35950583
60signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.35950583
61folic acid metabolic process (GO:0046655)3.35186670
62DNA double-strand break processing (GO:0000729)3.33924289
63DNA replication-independent nucleosome assembly (GO:0006336)3.32861554
64DNA replication-independent nucleosome organization (GO:0034724)3.32861554
65nucleotide-excision repair, DNA gap filling (GO:0006297)3.31842468
66signal transduction involved in DNA integrity checkpoint (GO:0072401)3.31465035
67signal transduction involved in DNA damage checkpoint (GO:0072422)3.31465035
68non-recombinational repair (GO:0000726)3.31198629
69double-strand break repair via nonhomologous end joining (GO:0006303)3.31198629
70signal transduction involved in cell cycle checkpoint (GO:0072395)3.26997454
71mitotic nuclear envelope disassembly (GO:0007077)3.24980411
72rRNA metabolic process (GO:0016072)3.24837580
73somatic hypermutation of immunoglobulin genes (GO:0016446)3.24706220
74somatic diversification of immune receptors via somatic mutation (GO:0002566)3.24706220
75positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.24153784
76transcription-coupled nucleotide-excision repair (GO:0006283)3.24035011
77DNA catabolic process, exonucleolytic (GO:0000738)3.24015057
78exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.23871930
79viral mRNA export from host cell nucleus (GO:0046784)3.22780229
80L-serine metabolic process (GO:0006563)3.22685527
81SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.21061973
82cell cycle G1/S phase transition (GO:0044843)3.19030548
83G1/S transition of mitotic cell cycle (GO:0000082)3.19030548
84spindle checkpoint (GO:0031577)3.18567197
85mitotic spindle checkpoint (GO:0071174)3.17632494
86negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.17218756
87negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.17218756
88negative regulation of mitotic sister chromatid segregation (GO:0033048)3.17218756
89negative regulation of mitotic sister chromatid separation (GO:2000816)3.17218756
90negative regulation of sister chromatid segregation (GO:0033046)3.17218756
91nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.17178327
92protein localization to chromosome, centromeric region (GO:0071459)3.15738332
93regulation of helicase activity (GO:0051095)3.15577771
94negative regulation of chromosome segregation (GO:0051985)3.14986376
95translation (GO:0006412)3.14777614
96cellular component biogenesis (GO:0044085)3.14316329
97regulation of ubiquitin-protein transferase activity (GO:0051438)3.13779481
98regulation of mitochondrial translation (GO:0070129)3.13663902
99cotranslational protein targeting to membrane (GO:0006613)3.12755122
100antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.10837838
101mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.10344364
102mitotic sister chromatid segregation (GO:0000070)3.09992331
103protein targeting to ER (GO:0045047)3.09869381
104positive regulation of ligase activity (GO:0051351)3.08769128
105mitochondrial RNA metabolic process (GO:0000959)3.05081044
106protein localization to kinetochore (GO:0034501)3.05074009
107histone exchange (GO:0043486)3.04990796
108termination of RNA polymerase II transcription (GO:0006369)3.04245797
109kinetochore organization (GO:0051383)3.04092728
110glycine metabolic process (GO:0006544)3.04020256
111transcription elongation from RNA polymerase III promoter (GO:0006385)3.03857950
112termination of RNA polymerase III transcription (GO:0006386)3.03857950
113deoxyribonucleotide biosynthetic process (GO:0009263)3.03533794
114regulation of ligase activity (GO:0051340)3.03084330
115regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.02985011
116regulation of mitotic spindle checkpoint (GO:1903504)3.02985011
117oxidative phosphorylation (GO:0006119)3.02391806
118protein targeting to mitochondrion (GO:0006626)3.02387782
119tRNA aminoacylation for protein translation (GO:0006418)3.02248820
120nucleobase-containing small molecule interconversion (GO:0015949)3.01253886
1217-methylguanosine mRNA capping (GO:0006370)3.00972700
122pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)3.00478064
123kinetochore assembly (GO:0051382)2.97951458
124nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.97438811
125pteridine-containing compound biosynthetic process (GO:0042559)2.97180965
126L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.97038245
127protein localization to endoplasmic reticulum (GO:0070972)2.96020692
128spliceosomal complex assembly (GO:0000245)2.95973594
129metaphase plate congression (GO:0051310)2.95192530
130RNA capping (GO:0036260)2.95047172
1317-methylguanosine RNA capping (GO:0009452)2.95047172
132membrane disassembly (GO:0030397)2.94825579
133nuclear envelope disassembly (GO:0051081)2.94825579
134regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.94488003
135tetrahydrofolate metabolic process (GO:0046653)2.93818643

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.24242826
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.72929817
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.09622418
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.93218654
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.49952419
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.35199196
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.34714328
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.28843607
9MYC_18358816_ChIP-ChIP_MESCs_Mouse3.19991403
10MYC_19030024_ChIP-ChIP_MESCs_Mouse3.10743273
11ETS1_20019798_ChIP-Seq_JURKAT_Human3.10404585
12MYC_19079543_ChIP-ChIP_MESCs_Mouse3.09935774
13CREB1_15753290_ChIP-ChIP_HEK293T_Human3.02950157
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.95284961
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.61036635
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.59917064
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.58423266
18NELFA_20434984_ChIP-Seq_ESCs_Mouse2.54355498
19FOXM1_23109430_ChIP-Seq_U2OS_Human2.51236425
20XRN2_22483619_ChIP-Seq_HELA_Human2.41015241
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.38622603
22VDR_23849224_ChIP-Seq_CD4+_Human2.33534898
23E2F1_18555785_ChIP-Seq_MESCs_Mouse2.32987942
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.30940167
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.23140165
26DCP1A_22483619_ChIP-Seq_HELA_Human2.17583076
27FOXP3_21729870_ChIP-Seq_TREG_Human2.06208446
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.06141985
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.98536346
30GABP_19822575_ChIP-Seq_HepG2_Human1.97998916
31AR_21909140_ChIP-Seq_LNCAP_Human1.97571556
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96271471
33MYCN_18555785_ChIP-Seq_MESCs_Mouse1.90821227
34MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.90477173
35TTF2_22483619_ChIP-Seq_HELA_Human1.88417388
36SRF_21415370_ChIP-Seq_HL-1_Mouse1.87861754
37YY1_21170310_ChIP-Seq_MESCs_Mouse1.86428410
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.85612046
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.83132740
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.80887807
41ELK1_19687146_ChIP-ChIP_HELA_Human1.78652668
42RBPJ_22232070_ChIP-Seq_NCS_Mouse1.76306840
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.74921379
44E2F1_21310950_ChIP-Seq_MCF-7_Human1.71720036
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.70123475
46* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.68164831
47ZFX_18555785_ChIP-Seq_MESCs_Mouse1.64863367
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.63092771
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58961279
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.58714705
51CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.53398121
52TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.49245147
53POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.47084122
54CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.46690411
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45901200
56KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.45874780
57CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.43797318
58ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.40906795
59POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.38159937
60PADI4_21655091_ChIP-ChIP_MCF-7_Human1.32351744
61CIITA_25753668_ChIP-Seq_RAJI_Human1.31883701
62KDM5A_27292631_Chip-Seq_BREAST_Human1.29056885
63STAT3_1855785_ChIP-Seq_MESCs_Mouse1.28155051
64CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.26726195
65SOX2_18555785_ChIP-Seq_MESCs_Mouse1.26541038
66ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24692522
67FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.24640263
68SALL1_21062744_ChIP-ChIP_HESCs_Human1.18941916
69NANOG_16153702_ChIP-ChIP_HESCs_Human1.16589074
70MYC_18940864_ChIP-ChIP_HL60_Human1.15550690
71HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.12016005
72SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11437832
73BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10733476
74PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.09874250
75KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.09696881
76TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.09532230
77* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04083088
78ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04000241
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.03938502
80CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.03059382
81E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.02841856
82KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01838531
83EGR1_23403033_ChIP-Seq_LIVER_Mouse1.01431631
84CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00694318
85ELK1_22589737_ChIP-Seq_MCF10A_Human0.98019445
86SOX2_16153702_ChIP-ChIP_HESCs_Human0.97453984
87SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.96892380
88TFEB_21752829_ChIP-Seq_HELA_Human0.94548228
89NOTCH1_21737748_ChIP-Seq_TLL_Human0.91459787
90CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.90210080
91OCT4_18692474_ChIP-Seq_MEFs_Mouse0.89111663
92DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.89069745
93POU5F1_16153702_ChIP-ChIP_HESCs_Human0.88915394
94ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.88850274
95ESR1_15608294_ChIP-ChIP_MCF-7_Human0.88307697
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.87094967
97EWS_26573619_Chip-Seq_HEK293_Human0.87061313
98IRF1_19129219_ChIP-ChIP_H3396_Human0.86197997
99HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.84811014
100HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.83782732
101NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.83650592
102SOX17_20123909_ChIP-Seq_XEN_Mouse0.82965676
103TCF3_18692474_ChIP-Seq_MEFs_Mouse0.82246078
104DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.82243498
105KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.81765292
106SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.81233520
107SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.79984409
108* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.79935500
109NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.79521582
110CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.77005873
111TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.69487830
112TP63_19390658_ChIP-ChIP_HaCaT_Human0.69462795
113NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.67999077

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.17794139
2MP0004957_abnormal_blastocyst_morpholog4.51823737
3MP0003806_abnormal_nucleotide_metabolis4.49373676
4MP0010094_abnormal_chromosome_stability4.34648423
5MP0003111_abnormal_nucleus_morphology3.81601278
6MP0008058_abnormal_DNA_repair3.75724763
7MP0003077_abnormal_cell_cycle3.68088252
8MP0008057_abnormal_DNA_replication3.33020743
9MP0003123_paternal_imprinting3.25035108
10MP0008007_abnormal_cellular_replicative2.83279673
11MP0002139_abnormal_hepatobiliary_system2.77331970
12MP0008932_abnormal_embryonic_tissue2.37594515
13MP0005360_urolithiasis2.36034253
14MP0003186_abnormal_redox_activity2.32290505
15MP0002396_abnormal_hematopoietic_system2.29999763
16MP0005085_abnormal_gallbladder_physiolo2.23255719
17MP0001730_embryonic_growth_arrest2.20336568
18MP0003718_maternal_effect2.16241371
19MP0009379_abnormal_foot_pigmentation1.99406066
20MP0005365_abnormal_bile_salt1.89268058
21MP0009697_abnormal_copulation1.88844178
22MP0000350_abnormal_cell_proliferation1.87908126
23MP0006036_abnormal_mitochondrial_physio1.87301137
24MP0003786_premature_aging1.80966328
25MP0001764_abnormal_homeostasis1.63402113
26MP0006035_abnormal_mitochondrial_morpho1.61084146
27MP0001697_abnormal_embryo_size1.51616264
28MP0001672_abnormal_embryogenesis/_devel1.44079757
29MP0005380_embryogenesis_phenotype1.44079757
30MP0002080_prenatal_lethality1.43026279
31MP0008789_abnormal_olfactory_epithelium1.40585998
32MP0008877_abnormal_DNA_methylation1.39168320
33MP0008875_abnormal_xenobiotic_pharmacok1.39111224
34MP0010352_gastrointestinal_tract_polyps1.38110564
35MP0003567_abnormal_fetal_cardiomyocyte1.34474867
36MP0003937_abnormal_limbs/digits/tail_de1.32370708
37MP0002102_abnormal_ear_morphology1.31184057
38MP0003221_abnormal_cardiomyocyte_apopto1.30792536
39MP0003315_abnormal_perineum_morphology1.29955971
40MP0003984_embryonic_growth_retardation1.28824745
41MP0002088_abnormal_embryonic_growth/wei1.27372915
42MP0005266_abnormal_metabolism1.26704698
43MP0004133_heterotaxia1.23211225
44MP0003121_genomic_imprinting1.22426312
45MP0000313_abnormal_cell_death1.22421580
46MP0006072_abnormal_retinal_apoptosis1.22346695
47MP0003890_abnormal_embryonic-extraembry1.20209360
48MP0002019_abnormal_tumor_incidence1.19894573
49MP0000372_irregular_coat_pigmentation1.17503729
50MP0002160_abnormal_reproductive_system1.15110051
51MP0000358_abnormal_cell_content/1.14173677
52MP0004197_abnormal_fetal_growth/weight/1.14113488
53MP0000490_abnormal_crypts_of1.11050336
54MP0002086_abnormal_extraembryonic_tissu1.09618046
55MP0005499_abnormal_olfactory_system1.06542934
56MP0005394_taste/olfaction_phenotype1.06542934
57MP0002085_abnormal_embryonic_tissue1.06292964
58MP0009053_abnormal_anal_canal1.06082166
59MP0006292_abnormal_olfactory_placode1.05158388
60MP0005332_abnormal_amino_acid1.03603712
61MP0002233_abnormal_nose_morphology1.01877854
62MP0002132_abnormal_respiratory_system1.00539702
63MP0005319_abnormal_enzyme/_coenzyme1.00347974
64MP0001188_hyperpigmentation0.99308341
65MP0008995_early_reproductive_senescence0.99119782
66MP0002210_abnormal_sex_determination0.97040144
67MP0002697_abnormal_eye_size0.96430295
68MP0001853_heart_inflammation0.95705315
69MP0005389_reproductive_system_phenotype0.95410320
70MP0002084_abnormal_developmental_patter0.95273933
71MP0001293_anophthalmia0.95241612
72MP0010307_abnormal_tumor_latency0.94848457
73MP0005083_abnormal_biliary_tract0.93843136
74MP0010030_abnormal_orbit_morphology0.93194553
75MP0001145_abnormal_male_reproductive0.89802504
76MP0009672_abnormal_birth_weight0.89671341
77MP0010329_abnormal_lipoprotein_level0.88565477
78MP0000598_abnormal_liver_morphology0.86943944
79MP0005376_homeostasis/metabolism_phenot0.86491269
80MP0001119_abnormal_female_reproductive0.86103699
81MP0009703_decreased_birth_body0.85947960
82MP0004147_increased_porphyrin_level0.85800018
83MP0002254_reproductive_system_inflammat0.84339880
84MP0005408_hypopigmentation0.83437417
85MP0003941_abnormal_skin_development0.82174705
86MP0000653_abnormal_sex_gland0.79256999
87MP0000537_abnormal_urethra_morphology0.78573238
88MP0001529_abnormal_vocalization0.77958133
89MP0002163_abnormal_gland_morphology0.77780827
90MP0003119_abnormal_digestive_system0.77431966
91MP0005501_abnormal_skin_physiology0.77012310
92MP0001919_abnormal_reproductive_system0.75478081
93MP0009840_abnormal_foam_cell0.74836903
94MP0002938_white_spotting0.73738925
95MP0005075_abnormal_melanosome_morpholog0.73642584
96MP0002796_impaired_skin_barrier0.73162211
97MP0002736_abnormal_nociception_after0.72625186
98MP0001929_abnormal_gametogenesis0.72585117
99MP0005084_abnormal_gallbladder_morpholo0.71849293
100MP0002090_abnormal_vision0.70632759
101MP0003656_abnormal_erythrocyte_physiolo0.70194577
102MP0003136_yellow_coat_color0.70067605
103MP0002111_abnormal_tail_morphology0.69185901
104MP0002751_abnormal_autonomic_nervous0.68553674
105MP0002234_abnormal_pharynx_morphology0.68155448
106MP0009333_abnormal_splenocyte_physiolog0.68026540
107MP0000609_abnormal_liver_physiology0.67383431
108MP0000049_abnormal_middle_ear0.66359421
109MP0005395_other_phenotype0.65868616
110MP0003646_muscle_fatigue0.63293654
111MP0001346_abnormal_lacrimal_gland0.62962943
112MP0004808_abnormal_hematopoietic_stem0.62584290
113MP0001881_abnormal_mammary_gland0.60860158
114MP0005367_renal/urinary_system_phenotyp0.60627847
115MP0000516_abnormal_urinary_system0.60627847
116MP0000689_abnormal_spleen_morphology0.60621951
117MP0004019_abnormal_vitamin_homeostasis0.60326277
118MP0000647_abnormal_sebaceous_gland0.59990983
119MP0005384_cellular_phenotype0.58914295
120MP0005636_abnormal_mineral_homeostasis0.58422307
121MP0005451_abnormal_body_composition0.57764131
122MP0002722_abnormal_immune_system0.57458805
123MP0001286_abnormal_eye_development0.56304600
124MP0002095_abnormal_skin_pigmentation0.55305850
125MP0003698_abnormal_male_reproductive0.53766532
126MP0002269_muscular_atrophy0.53708757
127MP0001727_abnormal_embryo_implantation0.52960775
128MP0004084_abnormal_cardiac_muscle0.52786512
129MP0004264_abnormal_extraembryonic_tissu0.52332173
130MP0000750_abnormal_muscle_regeneration0.51896088
131MP0002161_abnormal_fertility/fecundity0.51237871

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.73889563
2Oral leukoplakia (HP:0002745)4.24738433
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.20383009
4Abnormality of cells of the erythroid lineage (HP:0012130)4.13767257
5Abnormal number of erythroid precursors (HP:0012131)4.00214342
6Hypobetalipoproteinemia (HP:0003563)3.68109439
7Reticulocytopenia (HP:0001896)3.65848852
8Increased serum pyruvate (HP:0003542)3.58331642
9Abnormality of glycolysis (HP:0004366)3.58331642
10Abnormality of the labia minora (HP:0012880)3.49034435
11Breast hypoplasia (HP:0003187)3.40597676
12Colon cancer (HP:0003003)3.30535287
13Increased CSF lactate (HP:0002490)3.23150435
14Abnormality of pyrimidine metabolism (HP:0004353)3.21090455
15Increased serum lactate (HP:0002151)3.18457107
16Acute necrotizing encephalopathy (HP:0006965)3.16862517
17Aplastic anemia (HP:0001915)3.14842173
18Hepatic necrosis (HP:0002605)3.11210318
19Hepatocellular necrosis (HP:0001404)3.03553988
20Degeneration of anterior horn cells (HP:0002398)3.02403959
21Abnormality of the anterior horn cell (HP:0006802)3.02403959
22Abnormal mitochondria in muscle tissue (HP:0008316)3.02215830
23Macrocytic anemia (HP:0001972)2.99142395
24Mitochondrial inheritance (HP:0001427)2.98311087
25Acute encephalopathy (HP:0006846)2.98273071
26Cerebral hypomyelination (HP:0006808)2.97973157
27Cerebral edema (HP:0002181)2.84385009
28Rough bone trabeculation (HP:0100670)2.79744612
29Decreased activity of mitochondrial respiratory chain (HP:0008972)2.79604968
30Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.79604968
31Multiple enchondromatosis (HP:0005701)2.79471062
32Aplasia/Hypoplasia of the uvula (HP:0010293)2.77857030
33Lipid accumulation in hepatocytes (HP:0006561)2.75898254
34Increased hepatocellular lipid droplets (HP:0006565)2.73808905
35Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.71970798
36Microretrognathia (HP:0000308)2.68498516
37Carpal bone hypoplasia (HP:0001498)2.58336796
38Abnormality of monocarboxylic acid metabolism (HP:0010996)2.55104418
39Small intestinal stenosis (HP:0012848)2.53347456
40Duodenal stenosis (HP:0100867)2.53347456
41Lactic acidosis (HP:0003128)2.52750223
42Microvesicular hepatic steatosis (HP:0001414)2.47818347
43Progressive macrocephaly (HP:0004481)2.47166529
44Patellar aplasia (HP:0006443)2.46091575
45Nausea (HP:0002018)2.45034058
46Aplasia/Hypoplasia of the sacrum (HP:0008517)2.43313030
47Selective tooth agenesis (HP:0001592)2.43237455
48Pallor (HP:0000980)2.42534633
49Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.37792516
50Megaloblastic anemia (HP:0001889)2.37680641
51Exercise intolerance (HP:0003546)2.37254701
52Hyperglycinemia (HP:0002154)2.33643499
53Nephroblastoma (Wilms tumor) (HP:0002667)2.32373723
54Abnormality of the heme biosynthetic pathway (HP:0010472)2.31997447
55Myelodysplasia (HP:0002863)2.31491145
56Renal Fanconi syndrome (HP:0001994)2.31488178
57Cellular immunodeficiency (HP:0005374)2.31252884
5811 pairs of ribs (HP:0000878)2.31110010
59Aplasia/Hypoplasia of the patella (HP:0006498)2.31108081
603-Methylglutaconic aciduria (HP:0003535)2.27857498
61Premature graying of hair (HP:0002216)2.27457426
62CNS demyelination (HP:0007305)2.24634802
63Abnormality of the duodenum (HP:0002246)2.23875486
64Medulloblastoma (HP:0002885)2.22912542
65Lethargy (HP:0001254)2.22357786
66Abnormality of aspartate family amino acid metabolism (HP:0010899)2.22065099
67Abnormal lung lobation (HP:0002101)2.21428638
68Abnormality of aromatic amino acid family metabolism (HP:0004338)2.20839316
69Meckel diverticulum (HP:0002245)2.19506171
70Type I transferrin isoform profile (HP:0003642)2.19351551
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.18161619
72Abnormal protein N-linked glycosylation (HP:0012347)2.18161619
73Abnormal protein glycosylation (HP:0012346)2.18161619
74Abnormal glycosylation (HP:0012345)2.18161619
75Abnormality of the preputium (HP:0100587)2.18025251
76Triphalangeal thumb (HP:0001199)2.17912310
77Embryonal renal neoplasm (HP:0011794)2.16988615
78Poor head control (HP:0002421)2.13526834
79Absent radius (HP:0003974)2.12843819
80Abnormal trabecular bone morphology (HP:0100671)2.11656508
81Agnosia (HP:0010524)2.11604857
82Abnormality of the ileum (HP:0001549)2.08499155
83Neoplasm of the pancreas (HP:0002894)2.08183978
84Secondary amenorrhea (HP:0000869)2.07881950
85Abnormality of serum amino acid levels (HP:0003112)2.07588639
86Hyperammonemia (HP:0001987)2.06827829
87Rhabdomyolysis (HP:0003201)2.06366059
88Supernumerary spleens (HP:0009799)2.05982826
89Pancytopenia (HP:0001876)2.05915030
90Intrahepatic cholestasis (HP:0001406)2.05790699
91Leukodystrophy (HP:0002415)2.05052304
92Progressive muscle weakness (HP:0003323)2.04565554
93Increased intramyocellular lipid droplets (HP:0012240)2.04345556
94Horseshoe kidney (HP:0000085)2.03882136
95Absent thumb (HP:0009777)2.01777587
96Hyperglycinuria (HP:0003108)2.00424563
97Ependymoma (HP:0002888)2.00402836
98Premature ovarian failure (HP:0008209)2.00040127
99Sloping forehead (HP:0000340)1.99465798
100Methylmalonic acidemia (HP:0002912)1.98987545
101Pancreatic islet-cell hyperplasia (HP:0004510)1.98769831
102Abnormality of methionine metabolism (HP:0010901)1.96471464
103Aplasia involving forearm bones (HP:0009822)1.96426925
104Absent forearm bone (HP:0003953)1.96426925
105Chromsome breakage (HP:0040012)1.96155253
106Bone marrow hypocellularity (HP:0005528)1.95564424
107Ragged-red muscle fibers (HP:0003200)1.95244227
108Abnormality of chromosome stability (HP:0003220)1.94440157
109Neoplasm of the adrenal gland (HP:0100631)1.94237159
110Respiratory difficulties (HP:0002880)1.93500725
111Abnormality of alanine metabolism (HP:0010916)1.92962018
112Hyperalaninemia (HP:0003348)1.92962018
113Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.92962018
114Increased muscle lipid content (HP:0009058)1.91563253
115Respiratory failure (HP:0002878)1.91253437
116Postnatal microcephaly (HP:0005484)1.90700210
117Neoplasm of the colon (HP:0100273)1.90580657
118Female pseudohermaphroditism (HP:0010458)1.89503408
119Hypolipoproteinemia (HP:0010981)1.88973128
120Abnormality of reticulocytes (HP:0004312)1.88195481
121Reduced antithrombin III activity (HP:0001976)1.87774445
122Impulsivity (HP:0100710)1.86265988
123Facial cleft (HP:0002006)1.85841102
124Rhabdomyosarcoma (HP:0002859)1.84506278
125Abnormality of glycine metabolism (HP:0010895)1.82536715
126Abnormality of serine family amino acid metabolism (HP:0010894)1.82536715
127Delayed CNS myelination (HP:0002188)1.81376748
128Emotional lability (HP:0000712)1.81069497
129Cleft eyelid (HP:0000625)1.80058118
130Sparse eyelashes (HP:0000653)1.79768603
131Exertional dyspnea (HP:0002875)1.79418233
132Methylmalonic aciduria (HP:0012120)1.77446374
133Abnormality of the carotid arteries (HP:0005344)1.76780957
134Bifid tongue (HP:0010297)1.76270562

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.64080900
2WEE14.20824973
3EIF2AK14.19935488
4VRK23.78117435
5STK163.59722584
6CDC73.38944145
7SRPK13.20376718
8EIF2AK32.91490497
9TSSK62.80721081
10NME22.51599879
11NEK12.49456354
12PLK42.49431488
13VRK12.27565102
14BCKDK2.01623428
15TRIM282.00938806
16MKNK12.00831127
17BRSK21.94633018
18PLK31.82133392
19ACVR1B1.79397393
20PLK11.74117555
21NUAK11.63998262
22TTK1.62550632
23DYRK31.56954107
24PASK1.51915693
25CDK71.49559138
26TAF11.48796359
27TESK21.46341228
28ZAK1.46030407
29AURKB1.45293123
30PBK1.41692469
31RPS6KB21.41416477
32ATR1.35184659
33MKNK21.30666553
34NEK21.30602726
35AURKA1.30130462
36NME11.29841131
37FLT31.27405117
38SCYL21.27249854
39TLK11.25656645
40CCNB11.25474414
41TGFBR11.25044617
42PIM21.15872087
43EPHA21.14490533
44EIF2AK21.13117298
45BRSK11.11512756
46BMPR1B1.10478022
47RPS6KA41.06843889
48WNK31.05236504
49TNIK1.04389444
50ALK1.01409074
51MAP3K80.98993722
52KDR0.98811300
53BRAF0.96489600
54PAK40.93927420
55CHEK20.92225076
56CHEK10.87339651
57CSNK2A20.86450704
58CDK40.86192394
59CSNK2A10.84702084
60TESK10.84317269
61STK38L0.83860622
62OBSCN0.79488329
63MAP3K110.76798341
64ABL20.76617138
65CDK80.75985670
66MYLK0.73898434
67MAP4K20.70754444
68CSNK1G10.70016487
69PNCK0.68921423
70DYRK20.67761776
71PDK30.66017151
72PDK40.66017151
73LIMK10.65685081
74ERBB40.64793949
75CSNK1G30.63689240
76AKT30.61212096
77ATM0.60532965
78PAK10.58086157
79STK40.57959819
80SMG10.57728426
81DAPK10.57164820
82STK30.56752906
83BCR0.56637731
84CDK20.55863590
85PIM10.55266487
86TAOK20.53926481
87FGFR10.52700928
88PKN20.51956613
89GRK10.50987746
90MAP3K120.47991367
91CLK10.47449563
92CSNK1A1L0.47221196
93PRKCI0.46551801
94ARAF0.45844037
95MAP2K30.44825215
96CSNK1G20.43929068
97PLK20.42771097
98CDK190.42659237
99CDK10.41532448
100YES10.40545966
101PRKDC0.38099673
102ILK0.37051634
103CDK60.36409462
104BRD40.35405232
105STK240.35116586
106AKT20.34748275
107CDK30.34626626
108CDK90.34517970
109RPS6KA50.34133292
110STK100.31627769
111RAF10.29658160
112LRRK20.28846194
113OXSR10.28550963
114STK390.27015774
115CSNK1E0.25035748
116NEK90.24510174
117ERBB30.23666752
118TYK20.23382995
119MST40.23156436
120RPS6KB10.22877969
121MAP3K30.22101667
122CSNK1A10.21632537
123MAP2K60.21608629
124MAP3K50.21471655
125MAP3K100.20892378
126MAPKAPK50.20128196
127GRK60.19418690
128PDK20.18554909
129RPS6KL10.18515083
130RPS6KC10.18515083
131TEC0.18473281

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.18269970
2Proteasome_Homo sapiens_hsa030504.09884561
3Mismatch repair_Homo sapiens_hsa034303.59121533
4Ribosome_Homo sapiens_hsa030103.45943543
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.15071438
6RNA polymerase_Homo sapiens_hsa030202.98842579
7One carbon pool by folate_Homo sapiens_hsa006702.72799757
8Spliceosome_Homo sapiens_hsa030402.65225653
9Nucleotide excision repair_Homo sapiens_hsa034202.46925747
10RNA transport_Homo sapiens_hsa030132.44015055
11Pyrimidine metabolism_Homo sapiens_hsa002402.43491174
12Homologous recombination_Homo sapiens_hsa034402.42846617
13Base excision repair_Homo sapiens_hsa034102.37666963
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.31268761
15Non-homologous end-joining_Homo sapiens_hsa034501.83943026
16Cell cycle_Homo sapiens_hsa041101.71533044
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.66273631
18Cysteine and methionine metabolism_Homo sapiens_hsa002701.61819331
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.61282309
20Biosynthesis of amino acids_Homo sapiens_hsa012301.57403894
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.56660251
22RNA degradation_Homo sapiens_hsa030181.56031140
23Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.54072008
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.47669976
25Folate biosynthesis_Homo sapiens_hsa007901.45827225
26Parkinsons disease_Homo sapiens_hsa050121.42908905
27Carbon metabolism_Homo sapiens_hsa012001.40722122
28Basal transcription factors_Homo sapiens_hsa030221.39385789
29Fanconi anemia pathway_Homo sapiens_hsa034601.39052226
30Oxidative phosphorylation_Homo sapiens_hsa001901.38403490
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37160277
32Purine metabolism_Homo sapiens_hsa002301.24954463
33Selenocompound metabolism_Homo sapiens_hsa004501.24485948
34Huntingtons disease_Homo sapiens_hsa050161.20037603
35Cyanoamino acid metabolism_Homo sapiens_hsa004601.18643909
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.18501121
37Pentose phosphate pathway_Homo sapiens_hsa000301.15036501
38Sulfur relay system_Homo sapiens_hsa041221.09665546
39Primary bile acid biosynthesis_Homo sapiens_hsa001201.09291741
40Protein export_Homo sapiens_hsa030601.08475174
41Glutathione metabolism_Homo sapiens_hsa004801.07747253
42Steroid biosynthesis_Homo sapiens_hsa001001.06588205
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.06331975
44Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.06166394
45Pyruvate metabolism_Homo sapiens_hsa006200.98576910
46Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.93306164
47Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.93098744
48mRNA surveillance pathway_Homo sapiens_hsa030150.91271043
49Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.91188864
50Systemic lupus erythematosus_Homo sapiens_hsa053220.88035286
51Propanoate metabolism_Homo sapiens_hsa006400.86761940
52Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.82929933
53Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.82465693
54p53 signaling pathway_Homo sapiens_hsa041150.80970938
55Epstein-Barr virus infection_Homo sapiens_hsa051690.77713217
56Peroxisome_Homo sapiens_hsa041460.75363248
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.74969516
58Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.72678258
59Fatty acid degradation_Homo sapiens_hsa000710.70070826
60Vitamin B6 metabolism_Homo sapiens_hsa007500.68892669
61Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.67414549
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.67388744
63Pentose and glucuronate interconversions_Homo sapiens_hsa000400.67032600
64Phenylalanine metabolism_Homo sapiens_hsa003600.66198424
65Fructose and mannose metabolism_Homo sapiens_hsa000510.66133602
66Alzheimers disease_Homo sapiens_hsa050100.65921697
67Metabolic pathways_Homo sapiens_hsa011000.64556094
68Tyrosine metabolism_Homo sapiens_hsa003500.63353427
69Tryptophan metabolism_Homo sapiens_hsa003800.62770417
70Galactose metabolism_Homo sapiens_hsa000520.62521112
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.61146785
72Chemical carcinogenesis_Homo sapiens_hsa052040.60687721
73beta-Alanine metabolism_Homo sapiens_hsa004100.58018531
74Arginine biosynthesis_Homo sapiens_hsa002200.56718543
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.56224763
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.52647261
77Arginine and proline metabolism_Homo sapiens_hsa003300.52446316
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.49806181
79Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.47341920
80Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44343404
81Retinol metabolism_Homo sapiens_hsa008300.43856992
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.42143487
83Legionellosis_Homo sapiens_hsa051340.39742069
84Butanoate metabolism_Homo sapiens_hsa006500.38870420
85Oocyte meiosis_Homo sapiens_hsa041140.37555769
86Sulfur metabolism_Homo sapiens_hsa009200.36032541
87N-Glycan biosynthesis_Homo sapiens_hsa005100.34803699
88Viral carcinogenesis_Homo sapiens_hsa052030.34620305
89Antigen processing and presentation_Homo sapiens_hsa046120.33918320
90Herpes simplex infection_Homo sapiens_hsa051680.33027518
91Complement and coagulation cascades_Homo sapiens_hsa046100.31749005
92Fatty acid metabolism_Homo sapiens_hsa012120.30009591
93Fat digestion and absorption_Homo sapiens_hsa049750.29987844
94Fatty acid elongation_Homo sapiens_hsa000620.28554550
95Thyroid cancer_Homo sapiens_hsa052160.26735735
96Starch and sucrose metabolism_Homo sapiens_hsa005000.25296091
97Histidine metabolism_Homo sapiens_hsa003400.25098191
98Caffeine metabolism_Homo sapiens_hsa002320.21840814
99Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21701272
100TGF-beta signaling pathway_Homo sapiens_hsa043500.19549625
101Vitamin digestion and absorption_Homo sapiens_hsa049770.19209995
102Cardiac muscle contraction_Homo sapiens_hsa042600.19209320
103Lysine degradation_Homo sapiens_hsa003100.18531322
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.16987877
105Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.14883302
106Basal cell carcinoma_Homo sapiens_hsa052170.13914770
107Hippo signaling pathway_Homo sapiens_hsa043900.12048593
108Wnt signaling pathway_Homo sapiens_hsa043100.11899876
109Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.09675580
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.09362108

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