PSMC1P12

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)6.34419927
2regulation of antigen processing and presentation of peptide antigen (GO:0002583)5.85474499
3cytidine catabolic process (GO:0006216)5.70957299
4cytidine deamination (GO:0009972)5.70957299
5cytidine metabolic process (GO:0046087)5.70957299
6behavioral response to nicotine (GO:0035095)5.32873014
7regulation of cilium movement (GO:0003352)5.09778850
8sequestering of actin monomers (GO:0042989)5.07188685
9pyrimidine ribonucleoside catabolic process (GO:0046133)5.02749547
10antigen processing and presentation via MHC class Ib (GO:0002475)4.65726630
11regulation of microtubule-based movement (GO:0060632)4.63279060
12striatum development (GO:0021756)4.55364548
13kidney morphogenesis (GO:0060993)4.51940251
14negative regulation of organelle assembly (GO:1902116)4.50582854
15nonmotile primary cilium assembly (GO:0035058)4.38808562
16regulation of beta-amyloid formation (GO:1902003)4.37415757
17response to pheromone (GO:0019236)4.27851879
18negative regulation of interleukin-1 beta production (GO:0032691)4.25936124
19atrial cardiac muscle cell action potential (GO:0086014)4.19218334
20protein neddylation (GO:0045116)4.05810716
21urinary tract smooth muscle contraction (GO:0014848)3.95884975
22dendritic cell chemotaxis (GO:0002407)3.93104638
23regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.91585738
24negative regulation of response to food (GO:0032096)3.86414427
25negative regulation of appetite (GO:0032099)3.86414427
26positive regulation of CREB transcription factor activity (GO:0032793)3.85347381
27postsynaptic membrane organization (GO:0001941)3.85025463
28positive regulation of guanylate cyclase activity (GO:0031284)3.83239564
29regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.76108385
30positive regulation of synaptic transmission, GABAergic (GO:0032230)3.74541435
31sulfate transport (GO:0008272)3.68254998
32axoneme assembly (GO:0035082)3.67739599
33regulation of response to food (GO:0032095)3.64407846
34antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.58699984
35establishment of protein localization to mitochondrial membrane (GO:0090151)3.57128789
36regulation of appetite (GO:0032098)3.55545048
37mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.55364213
38tachykinin receptor signaling pathway (GO:0007217)3.45368102
39regulation of guanylate cyclase activity (GO:0031282)3.44687832
40cellular response to leptin stimulus (GO:0044320)3.43777125
41negative regulation of interleukin-1 production (GO:0032692)3.43553761
42pseudouridine synthesis (GO:0001522)3.42748093
43regulation of respiratory system process (GO:0044065)3.42086917
44protein-cofactor linkage (GO:0018065)3.41613281
45mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.41162485
46mitochondrial respiratory chain complex I assembly (GO:0032981)3.41162485
47NADH dehydrogenase complex assembly (GO:0010257)3.41162485
48ovulation cycle (GO:0042698)3.36330290
49negative regulation of lyase activity (GO:0051350)3.33170436
50antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.31017403
51negative regulation of adenylate cyclase activity (GO:0007194)3.27081911
52exogenous drug catabolic process (GO:0042738)3.26177883
53positive regulation of respiratory burst (GO:0060267)3.21557139
54artery smooth muscle contraction (GO:0014824)3.18605563
55regulation of amyloid precursor protein catabolic process (GO:1902991)3.16659166
56endoderm formation (GO:0001706)3.14331461
57DNA-dependent DNA replication (GO:0006261)3.12431497
58negative regulation of cyclase activity (GO:0031280)3.10145947
59epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.09622369
60neural tube formation (GO:0001841)3.09468175
61negative regulation of calcium ion transport into cytosol (GO:0010523)3.03927236
62DNA demethylation (GO:0080111)3.03605438
63dendritic cell migration (GO:0036336)3.02682871
64synaptic transmission, cholinergic (GO:0007271)2.98312943
65positive regulation of dendritic spine morphogenesis (GO:0061003)2.96860496
66termination of RNA polymerase III transcription (GO:0006386)2.95771772
67transcription elongation from RNA polymerase III promoter (GO:0006385)2.95771772
68phasic smooth muscle contraction (GO:0014821)2.94509615
69RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.92126939
70tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.92126939
71peristalsis (GO:0030432)2.88667512
72positive regulation of mitochondrial fission (GO:0090141)2.85815073
73protein complex biogenesis (GO:0070271)2.84123491
74piRNA metabolic process (GO:0034587)2.82906039
75aldehyde catabolic process (GO:0046185)2.82707651
76ATP synthesis coupled proton transport (GO:0015986)2.80833022
77energy coupled proton transport, down electrochemical gradient (GO:0015985)2.80833022
78electron transport chain (GO:0022900)2.77133959
79drug catabolic process (GO:0042737)2.76760891
80respiratory electron transport chain (GO:0022904)2.75131694
81presynaptic membrane organization (GO:0097090)2.74543755
82negative regulation of mast cell activation (GO:0033004)2.74192575
83negative regulation of meiotic cell cycle (GO:0051447)2.74054483
84antigen processing and presentation of endogenous antigen (GO:0019883)2.72935344
85acrosome reaction (GO:0007340)2.71783206
86positive regulation of antigen processing and presentation (GO:0002579)2.69769120
87glial cell proliferation (GO:0014009)2.68007368
88mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.66262019
89membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.65948167
90response to leptin (GO:0044321)2.65406964
91ncRNA 3-end processing (GO:0043628)2.64618022
92epithelial cilium movement (GO:0003351)2.64455453
93positive regulation of sodium ion transmembrane transport (GO:1902307)2.60905208
94tonic smooth muscle contraction (GO:0014820)2.60671865
95regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.59597455
96protein polyglutamylation (GO:0018095)2.58321838
97heparin metabolic process (GO:0030202)2.55270135
98heparin biosynthetic process (GO:0030210)2.55270135
99regulation of meiosis I (GO:0060631)2.51512234
100mitochondrial respiratory chain complex assembly (GO:0033108)2.50132809

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human8.28563309
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.97205956
3ZNF274_21170338_ChIP-Seq_K562_Hela3.92255788
4VDR_22108803_ChIP-Seq_LS180_Human3.18239385
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.81380822
6GABP_17652178_ChIP-ChIP_JURKAT_Human2.46419276
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.30345820
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.18300757
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.06147852
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.02397861
11POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.98192002
12TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.98192002
13EST1_17652178_ChIP-ChIP_JURKAT_Human1.91127732
14BMI1_23680149_ChIP-Seq_NPCS_Mouse1.88909253
15ER_23166858_ChIP-Seq_MCF-7_Human1.88304520
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.86418973
17CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85158699
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.82682441
19GBX2_23144817_ChIP-Seq_PC3_Human1.73275813
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72269194
21FUS_26573619_Chip-Seq_HEK293_Human1.69991649
22NOTCH1_21737748_ChIP-Seq_TLL_Human1.57439069
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.55165333
24CBX2_27304074_Chip-Seq_ESCs_Mouse1.52976985
25RNF2_27304074_Chip-Seq_NSC_Mouse1.52797844
26PCGF2_27294783_Chip-Seq_NPCs_Mouse1.51293187
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48526482
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.48178602
29ERA_21632823_ChIP-Seq_H3396_Human1.48172043
30VDR_23849224_ChIP-Seq_CD4+_Human1.48048652
31REST_21632747_ChIP-Seq_MESCs_Mouse1.47705644
32GATA3_21878914_ChIP-Seq_MCF-7_Human1.47379538
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.43082212
34P300_19829295_ChIP-Seq_ESCs_Human1.42938764
35EED_16625203_ChIP-ChIP_MESCs_Mouse1.40661396
36GATA1_22025678_ChIP-Seq_K562_Human1.37299656
37TP53_22573176_ChIP-Seq_HFKS_Human1.37211071
38FOXH1_21741376_ChIP-Seq_EPCs_Human1.36718163
39JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.36662996
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.36568941
41EZH2_27304074_Chip-Seq_ESCs_Mouse1.36457108
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.36151773
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.34303047
44NANOG_19829295_ChIP-Seq_ESCs_Human1.27983039
45SOX2_19829295_ChIP-Seq_ESCs_Human1.27983039
46EWS_26573619_Chip-Seq_HEK293_Human1.27081662
47PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.22358176
48AUTS2_25519132_ChIP-Seq_293T-REX_Human1.22073125
49TAF15_26573619_Chip-Seq_HEK293_Human1.21786255
50JARID2_20075857_ChIP-Seq_MESCs_Mouse1.20584290
51CBP_20019798_ChIP-Seq_JUKART_Human1.18503338
52IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18503338
53SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.17545299
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.16703974
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.16703974
56SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15154706
57KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14046059
58MYC_18940864_ChIP-ChIP_HL60_Human1.13585951
59AR_25329375_ChIP-Seq_VCAP_Human1.11836978
60SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.11462934
61NCOR_22424771_ChIP-Seq_293T_Human1.10092970
62SRF_21415370_ChIP-Seq_HL-1_Mouse1.08826107
63JARID2_20064375_ChIP-Seq_MESCs_Mouse1.08782986
64UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08086103
65ETS1_20019798_ChIP-Seq_JURKAT_Human1.08054298
66POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08010454
67TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.06345988
68EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.05461072
69FLI1_27457419_Chip-Seq_LIVER_Mouse1.04244509
70IKZF1_21737484_ChIP-ChIP_HCT116_Human1.03792072
71TAF2_19829295_ChIP-Seq_ESCs_Human1.03223827
72TCF4_23295773_ChIP-Seq_U87_Human1.02890961
73FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.02693006
74EZH2_27294783_Chip-Seq_ESCs_Mouse1.02447629
75TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.01617750
76AR_20517297_ChIP-Seq_VCAP_Human1.00787189
77SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.00665471
78PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.00083497
79AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98882898
80NFE2_27457419_Chip-Seq_LIVER_Mouse0.97521881
81LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95996881
82SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95834397
83SMAD3_21741376_ChIP-Seq_EPCs_Human0.94436287
84MYC_19829295_ChIP-Seq_ESCs_Human0.94428226
85SUZ12_27294783_Chip-Seq_NPCs_Mouse0.94284890
86RUNX2_22187159_ChIP-Seq_PCA_Human0.93462398
87YY1_21170310_ChIP-Seq_MESCs_Mouse0.92964464
88FOXH1_21741376_ChIP-Seq_ESCs_Human0.91897087
89HTT_18923047_ChIP-ChIP_STHdh_Human0.91893360
90HOXB7_26014856_ChIP-Seq_BT474_Human0.90790392
91SMAD4_21799915_ChIP-Seq_A2780_Human0.90303064
92DCP1A_22483619_ChIP-Seq_HELA_Human0.89676606
93SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.89491237
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.89438052
95ELK1_19687146_ChIP-ChIP_HELA_Human0.88983484
96GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.88909961
97MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.87680988
98MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.87121232
99STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.86890454
100EZH2_27294783_Chip-Seq_NPCs_Mouse0.85453868

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level4.69168046
2MP0005423_abnormal_somatic_nervous3.76646018
3MP0002822_catalepsy3.36343677
4MP0001984_abnormal_olfaction2.77918231
5MP0002736_abnormal_nociception_after2.72082585
6MP0008872_abnormal_physiological_respon2.64745237
7MP0005167_abnormal_blood-brain_barrier2.63754830
8MP0003880_abnormal_central_pattern2.55656708
9MP0002735_abnormal_chemical_nociception2.51928679
10MP0001968_abnormal_touch/_nociception2.51885256
11MP0005645_abnormal_hypothalamus_physiol2.32488313
12MP0002837_dystrophic_cardiac_calcinosis2.31113807
13MP0003646_muscle_fatigue2.26278966
14MP0001970_abnormal_pain_threshold2.19319025
15MP0005551_abnormal_eye_electrophysiolog2.15833439
16MP0004043_abnormal_pH_regulation2.09728620
17MP0002734_abnormal_mechanical_nocicepti2.05503540
18MP0003011_delayed_dark_adaptation2.05031154
19MP0004885_abnormal_endolymph2.02549172
20MP0002733_abnormal_thermal_nociception1.99114171
21MP0005377_hearing/vestibular/ear_phenot1.97826499
22MP0003878_abnormal_ear_physiology1.97826499
23MP0002272_abnormal_nervous_system1.92620239
24MP0006276_abnormal_autonomic_nervous1.89712990
25MP0008877_abnormal_DNA_methylation1.88320022
26MP0002653_abnormal_ependyma_morphology1.75127325
27MP0003195_calcinosis1.72604085
28MP0001486_abnormal_startle_reflex1.71914661
29MP0002638_abnormal_pupillary_reflex1.70548531
30MP0001348_abnormal_lacrimal_gland1.69399246
31MP0009745_abnormal_behavioral_response1.61050440
32MP0005253_abnormal_eye_physiology1.59601213
33MP0003137_abnormal_impulse_conducting1.54630683
34MP0005646_abnormal_pituitary_gland1.52458619
35MP0002102_abnormal_ear_morphology1.49124416
36MP0002572_abnormal_emotion/affect_behav1.46316099
37MP0004215_abnormal_myocardial_fiber1.44244072
38MP0008789_abnormal_olfactory_epithelium1.44240709
39MP0001501_abnormal_sleep_pattern1.42688551
40MP0001485_abnormal_pinna_reflex1.41998132
41MP0002063_abnormal_learning/memory/cond1.39717257
42MP0001905_abnormal_dopamine_level1.38060405
43MP0002557_abnormal_social/conspecific_i1.27269165
44MP0005310_abnormal_salivary_gland1.22567554
45MP0003329_amyloid_beta_deposits1.21454029
46MP0006072_abnormal_retinal_apoptosis1.21344365
47MP0001440_abnormal_grooming_behavior1.20810120
48MP0008875_abnormal_xenobiotic_pharmacok1.19937575
49MP0003635_abnormal_synaptic_transmissio1.18478120
50MP0005499_abnormal_olfactory_system1.17605243
51MP0005394_taste/olfaction_phenotype1.17605243
52MP0009785_altered_susceptibility_to1.16426125
53MP0004924_abnormal_behavior1.07606411
54MP0005386_behavior/neurological_phenoty1.07606411
55MP0000343_altered_response_to1.05850718
56MP0002138_abnormal_hepatobiliary_system1.04726445
57MP0005671_abnormal_response_to1.04621474
58MP0001529_abnormal_vocalization1.03511845
59MP0003787_abnormal_imprinting1.03442953
60MP0004084_abnormal_cardiac_muscle1.02767409
61MP0008775_abnormal_heart_ventricle1.02582806
62MP0003122_maternal_imprinting1.02269293
63MP0000230_abnormal_systemic_arterial1.00294373
64MP0001177_atelectasis0.99798565
65MP0003866_abnormal_defecation0.96930188
66MP0000569_abnormal_digit_pigmentation0.96702189
67MP0004133_heterotaxia0.94985561
68MP0009764_decreased_sensitivity_to0.93964455
69MP0003638_abnormal_response/metabolism_0.93065052
70MP0004142_abnormal_muscle_tone0.91611098
71MP0010329_abnormal_lipoprotein_level0.88452507
72MP0003436_decreased_susceptibility_to0.88425163
73MP0002067_abnormal_sensory_capabilities0.86504750
74MP0000604_amyloidosis0.86045408
75MP0002909_abnormal_adrenal_gland0.84604446
76MP0005195_abnormal_posterior_eye0.83951213
77MP0002148_abnormal_hypersensitivity_rea0.80292043
78MP0010386_abnormal_urinary_bladder0.79968145
79MP0002064_seizures0.79666850
80MP0002752_abnormal_somatic_nervous0.74069574
81MP0002229_neurodegeneration0.73801880
82MP0003724_increased_susceptibility_to0.72850806
83MP0005365_abnormal_bile_salt0.72561983
84MP0003183_abnormal_peptide_metabolism0.71879315
85MP0004130_abnormal_muscle_cell0.70636487
86MP0004085_abnormal_heartbeat0.70608961
87MP0002882_abnormal_neuron_morphology0.69800673
88MP0001765_abnormal_ion_homeostasis0.68787679
89MP0004145_abnormal_muscle_electrophysio0.68786777
90MP0000955_abnormal_spinal_cord0.68515828
91MP0004883_abnormal_blood_vessel0.67580571
92MP0001963_abnormal_hearing_physiology0.67062957
93MP0001919_abnormal_reproductive_system0.64978139
94MP0005636_abnormal_mineral_homeostasis0.64778654
95MP0001756_abnormal_urination0.64401893
96MP0006036_abnormal_mitochondrial_physio0.63920478
97MP0006292_abnormal_olfactory_placode0.62806708
98MP0009046_muscle_twitch0.62652148
99MP0002933_joint_inflammation0.62146897
100MP0004036_abnormal_muscle_relaxation0.62145738

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)7.18981884
2Pancreatic cysts (HP:0001737)4.47804679
3Aplasia/Hypoplasia of the sternum (HP:0006714)3.92351183
4Breast hypoplasia (HP:0003187)3.90938099
5Pancreatic fibrosis (HP:0100732)3.80261580
6True hermaphroditism (HP:0010459)3.78297333
7Gait imbalance (HP:0002141)3.73050560
8Short tibia (HP:0005736)3.68235754
9Mitochondrial inheritance (HP:0001427)3.67157272
10Microretrognathia (HP:0000308)3.62406368
11Congenital primary aphakia (HP:0007707)3.61851873
12Aplasia/Hypoplasia of the tibia (HP:0005772)3.58650304
13Medial flaring of the eyebrow (HP:0010747)3.52463046
14Acute necrotizing encephalopathy (HP:0006965)3.49639320
15Myokymia (HP:0002411)3.44980296
16Diastasis recti (HP:0001540)3.41159324
17Abnormality of midbrain morphology (HP:0002418)3.39986650
18Molar tooth sign on MRI (HP:0002419)3.39986650
19Renal cortical cysts (HP:0000803)3.22351021
20Nephrogenic diabetes insipidus (HP:0009806)3.14682007
21Patellar aplasia (HP:0006443)3.11760308
22Acute encephalopathy (HP:0006846)3.10713543
23Hyperventilation (HP:0002883)3.05837127
24Abnormal respiratory epithelium morphology (HP:0012253)3.04254764
25Abnormal respiratory motile cilium morphology (HP:0005938)3.04254764
26Abnormal mitochondria in muscle tissue (HP:0008316)2.96085810
27Congenital stationary night blindness (HP:0007642)2.94761681
28Abnormality of the renal cortex (HP:0011035)2.91228085
29Increased CSF lactate (HP:0002490)2.89952482
30Progressive macrocephaly (HP:0004481)2.89346839
31Stomach cancer (HP:0012126)2.87871790
32Aplasia/Hypoplasia of the patella (HP:0006498)2.83120861
33Abnormal ciliary motility (HP:0012262)2.82144001
34Hepatocellular necrosis (HP:0001404)2.80108927
35Hepatic necrosis (HP:0002605)2.67831958
36Supernumerary bones of the axial skeleton (HP:0009144)2.65648323
37Poor coordination (HP:0002370)2.61703746
38Genital tract atresia (HP:0001827)2.58815149
39Supernumerary ribs (HP:0005815)2.57716066
40Fibular hypoplasia (HP:0003038)2.53451857
41Retinal dysplasia (HP:0007973)2.52182333
42Increased hepatocellular lipid droplets (HP:0006565)2.50354383
43Aplasia/Hypoplasia involving the musculature (HP:0001460)2.49071588
44Type II lissencephaly (HP:0007260)2.47624979
45Vaginal atresia (HP:0000148)2.46961210
46Nasal speech (HP:0001611)2.43363873
47Poor speech (HP:0002465)2.40686366
48Nephronophthisis (HP:0000090)2.39469453
49Pendular nystagmus (HP:0012043)2.38035552
50Inability to walk (HP:0002540)2.36364086
51Optic disc pallor (HP:0000543)2.34833556
52Global brain atrophy (HP:0002283)2.33734492
53Anencephaly (HP:0002323)2.31409446
54Lipid accumulation in hepatocytes (HP:0006561)2.25052666
55Lissencephaly (HP:0001339)2.22426373
56Dynein arm defect of respiratory motile cilia (HP:0012255)2.20829912
57Absent/shortened dynein arms (HP:0200106)2.20829912
58Aplasia/Hypoplasia of the fibula (HP:0006492)2.20576308
59Broad-based gait (HP:0002136)2.19740372
60Cerebral edema (HP:0002181)2.18019105
61Sclerocornea (HP:0000647)2.16377385
62Absent rod-and cone-mediated responses on ERG (HP:0007688)2.16247433
63Absent thumb (HP:0009777)2.11185518
64Aplasia/Hypoplasia of the tongue (HP:0010295)2.10426043
65Cystic liver disease (HP:0006706)2.09915820
66Decreased central vision (HP:0007663)2.08612004
67Abnormal respiratory motile cilium physiology (HP:0012261)2.08428842
68Hypomagnesemia (HP:0002917)2.08368824
69Abolished electroretinogram (ERG) (HP:0000550)2.04518812
70Aplasia/Hypoplasia of the lens (HP:0008063)2.03398272
71Long foot (HP:0001833)1.99130486
72Respiratory failure (HP:0002878)1.97551166
73Optic nerve hypoplasia (HP:0000609)1.95298036
74Abnormality of the renal medulla (HP:0100957)1.94244882
75Type 2 muscle fiber atrophy (HP:0003554)1.92371319
76Furrowed tongue (HP:0000221)1.91005761
77Aplasia/Hypoplasia of the fovea (HP:0008060)1.90705344
78Hypoplasia of the fovea (HP:0007750)1.90705344
79IgG deficiency (HP:0004315)1.90375293
80Renal Fanconi syndrome (HP:0001994)1.90048208
81Constricted visual fields (HP:0001133)1.89887007
82Postaxial foot polydactyly (HP:0001830)1.89673826
83Amelogenesis imperfecta (HP:0000705)1.89323800
84Increased intramyocellular lipid droplets (HP:0012240)1.88067950
85Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.87776462
86Decreased activity of mitochondrial respiratory chain (HP:0008972)1.87776462
87Poor head control (HP:0002421)1.87028665
88Male pseudohermaphroditism (HP:0000037)1.86609385
89Abnormality of magnesium homeostasis (HP:0004921)1.84778008
90Lactic acidosis (HP:0003128)1.84455984
91Genu varum (HP:0002970)1.84336578
92Scrotal hypoplasia (HP:0000046)1.83546678
93Supernumerary spleens (HP:0009799)1.83056031
94Attenuation of retinal blood vessels (HP:0007843)1.79769194
95Aplasia/Hypoplasia of the ulna (HP:0006495)1.79591269
96Delayed CNS myelination (HP:0002188)1.78880906
97Abnormal rod and cone electroretinograms (HP:0008323)1.76656728
98Aplasia/Hypoplasia of the brainstem (HP:0007362)1.75840804
99Hypoplasia of the brainstem (HP:0002365)1.75840804
100Decreased electroretinogram (ERG) amplitude (HP:0000654)1.75571844

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK6.35732253
2TAOK34.95135022
3ZAK4.90389655
4BMPR1B4.81897875
5ACVR1B3.28659958
6TGFBR12.73354016
7DAPK22.29545733
8MARK12.00755929
9ADRBK21.91758125
10WNK31.75517618
11RPS6KA41.63628711
12STK161.54040160
13CAMKK11.53573308
14MST41.52209415
15SIK21.46100535
16NTRK21.45762192
17MELK1.42919994
18GRK51.42856989
19TRIM281.39822649
20GRK61.37369738
21NEK91.34105294
22TLK11.29241345
23CDK81.25133113
24GRK11.24806764
25MAPK131.21685713
26LIMK11.21458501
27KDR1.20594634
28MAP2K21.15504077
29SRPK11.12144453
30MKNK21.09352552
31GRK71.08017462
32FRK1.07509114
33WNK41.06511132
34CAMKK21.05280710
35MAP3K41.02362743
36DYRK20.98123972
37MAP2K70.96111884
38TXK0.95435896
39INSRR0.87573973
40NUAK10.84512048
41TIE10.80999785
42NME10.80483315
43MAPKAPK30.80163889
44BCR0.79443050
45CAMK10.77784518
46CAMK40.77189140
47ADRBK10.76648287
48CSNK1G30.76433063
49PNCK0.73565848
50CSNK1G20.69668944
51PAK30.67027103
52MAP3K70.64590642
53CSNK1A1L0.63688173
54BCKDK0.60989877
55ERBB30.60727908
56EIF2AK20.60496288
57PHKG20.59972439
58PHKG10.59972439
59PKN10.59069288
60ITK0.58227591
61CAMK2A0.57895981
62RPS6KA50.57302426
63MAP2K10.56572830
64CSNK1G10.56124193
65PIM10.55037244
66PRKCE0.52600127
67SYK0.52156405
68EPHA30.51206405
69MAP3K140.50149676
70CSNK1A10.48474207
71ALK0.47984448
72MKNK10.47458138
73STK380.46612509
74PLK30.46090692
75PRKCG0.45321913
76TEC0.44809092
77CHUK0.40377970
78IKBKB0.40316571
79VRK10.39490941
80BUB10.38811121
81ABL20.37690885
82MAP2K60.35423665
83DAPK10.34236679
84MAP4K20.34028196
85PRKCQ0.33948502
86PIK3CA0.33754616
87CAMK2D0.32320115
88CAMK1G0.31532673
89IGF1R0.31231936
90NEK10.31042728
91TNK20.27420080
92STK38L0.26139675
93PRKACA0.23988863
94OXSR10.22490310
95LYN0.22003232
96LCK0.21754992
97OBSCN0.20740214
98PTK2B0.20468625
99PINK10.19874019
100PRKACG0.19164446

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.76146164
2Parkinsons disease_Homo sapiens_hsa050123.16972671
3RNA polymerase_Homo sapiens_hsa030202.95919100
4Protein export_Homo sapiens_hsa030602.64753310
5Linoleic acid metabolism_Homo sapiens_hsa005912.60426797
6Alzheimers disease_Homo sapiens_hsa050102.36811727
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.14885067
8Huntingtons disease_Homo sapiens_hsa050162.13954937
9Nicotine addiction_Homo sapiens_hsa050332.09627860
10Proteasome_Homo sapiens_hsa030502.02441372
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.99963145
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.97132641
13Nitrogen metabolism_Homo sapiens_hsa009101.86865784
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.83430980
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.78603225
16Pentose and glucuronate interconversions_Homo sapiens_hsa000401.77614777
17Cardiac muscle contraction_Homo sapiens_hsa042601.73021701
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57996713
19Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.54829691
20Morphine addiction_Homo sapiens_hsa050321.52389256
21Butanoate metabolism_Homo sapiens_hsa006501.45648552
22GABAergic synapse_Homo sapiens_hsa047271.43783605
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.31140971
24Caffeine metabolism_Homo sapiens_hsa002321.29925564
25Propanoate metabolism_Homo sapiens_hsa006401.29797856
26Primary immunodeficiency_Homo sapiens_hsa053401.29410533
27Collecting duct acid secretion_Homo sapiens_hsa049661.29270432
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.24313346
29Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22244635
30Tryptophan metabolism_Homo sapiens_hsa003801.21970336
31Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.21201580
32Primary bile acid biosynthesis_Homo sapiens_hsa001201.18423408
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.17043236
34Phototransduction_Homo sapiens_hsa047441.16366579
35Retinol metabolism_Homo sapiens_hsa008301.16286919
36Chemical carcinogenesis_Homo sapiens_hsa052041.14593062
37Graft-versus-host disease_Homo sapiens_hsa053321.12690652
38Serotonergic synapse_Homo sapiens_hsa047261.11708211
39Fatty acid elongation_Homo sapiens_hsa000621.08574863
40Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.08532052
41Rheumatoid arthritis_Homo sapiens_hsa053231.08146938
42RNA degradation_Homo sapiens_hsa030180.99723458
43beta-Alanine metabolism_Homo sapiens_hsa004100.98095783
44Ether lipid metabolism_Homo sapiens_hsa005650.95829758
45Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.95620460
46Arachidonic acid metabolism_Homo sapiens_hsa005900.94853033
47Peroxisome_Homo sapiens_hsa041460.94071821
48Pyrimidine metabolism_Homo sapiens_hsa002400.93018758
49Steroid hormone biosynthesis_Homo sapiens_hsa001400.91972398
50Glycerolipid metabolism_Homo sapiens_hsa005610.89758910
51Sulfur relay system_Homo sapiens_hsa041220.88467145
52Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.88006195
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.87960779
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.86983981
55Sulfur metabolism_Homo sapiens_hsa009200.85523174
56Circadian entrainment_Homo sapiens_hsa047130.82988387
57Purine metabolism_Homo sapiens_hsa002300.82623907
58ABC transporters_Homo sapiens_hsa020100.80939380
59Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.77013755
60Ovarian steroidogenesis_Homo sapiens_hsa049130.75706036
61Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75669857
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75049526
63Salivary secretion_Homo sapiens_hsa049700.74331709
64Fat digestion and absorption_Homo sapiens_hsa049750.73821117
65Pancreatic secretion_Homo sapiens_hsa049720.73109893
66Insulin secretion_Homo sapiens_hsa049110.71103030
67Intestinal immune network for IgA production_Homo sapiens_hsa046720.70656873
68Autoimmune thyroid disease_Homo sapiens_hsa053200.70222159
69Mineral absorption_Homo sapiens_hsa049780.69368066
70Taste transduction_Homo sapiens_hsa047420.67719170
71Metabolic pathways_Homo sapiens_hsa011000.64034470
72Hematopoietic cell lineage_Homo sapiens_hsa046400.63013793
73Allograft rejection_Homo sapiens_hsa053300.61275296
74Vascular smooth muscle contraction_Homo sapiens_hsa042700.61202513
75One carbon pool by folate_Homo sapiens_hsa006700.60711302
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59460619
77Mismatch repair_Homo sapiens_hsa034300.59304978
78Bile secretion_Homo sapiens_hsa049760.58575176
79Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.58187412
80Tyrosine metabolism_Homo sapiens_hsa003500.56689638
81Histidine metabolism_Homo sapiens_hsa003400.55700271
82DNA replication_Homo sapiens_hsa030300.55472939
83Glutamatergic synapse_Homo sapiens_hsa047240.54731634
84Arginine and proline metabolism_Homo sapiens_hsa003300.54400747
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53058205
86Calcium signaling pathway_Homo sapiens_hsa040200.53016542
87Nucleotide excision repair_Homo sapiens_hsa034200.50593830
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.49664948
89Gastric acid secretion_Homo sapiens_hsa049710.46477150
90Olfactory transduction_Homo sapiens_hsa047400.43371668
91Selenocompound metabolism_Homo sapiens_hsa004500.43113091
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41455218
93Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.39521182
94Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.38408032
95Type I diabetes mellitus_Homo sapiens_hsa049400.38251670
96Synaptic vesicle cycle_Homo sapiens_hsa047210.36480632
97Ribosome_Homo sapiens_hsa030100.35835636
98cAMP signaling pathway_Homo sapiens_hsa040240.31646245
99NOD-like receptor signaling pathway_Homo sapiens_hsa046210.31385217
100NF-kappa B signaling pathway_Homo sapiens_hsa040640.30284826

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