PGBD3

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 a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Alternative splicing occurs between a splice site from exon 5 of the adjacent upstream gene 'excision repair cross-complementation group 6' (ERCC6, GeneID: 2074) and the 3' splice site upstream of the open reading frame (ORF) of this gene, which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. Pseudogenes for this gene are defined on chromosomes 4, 5 and 12. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)6.37962143
2intraciliary transport (GO:0042073)5.30947541
3behavioral response to ethanol (GO:0048149)5.06143220
4pyrimidine dimer repair (GO:0006290)4.67690009
5transcription elongation from RNA polymerase I promoter (GO:0006362)4.49710359
6limb bud formation (GO:0060174)4.10674131
7forebrain neuron differentiation (GO:0021879)3.99993398
8heme transport (GO:0015886)3.94009301
9neural tube formation (GO:0001841)3.92469822
10resolution of meiotic recombination intermediates (GO:0000712)3.84532187
11negative regulation of activin receptor signaling pathway (GO:0032926)3.78812276
12regulation of timing of cell differentiation (GO:0048505)3.77294889
13ubiquinone metabolic process (GO:0006743)3.65333875
14behavioral response to nicotine (GO:0035095)3.63685046
15regulation of development, heterochronic (GO:0040034)3.52673672
16cellular ketone body metabolic process (GO:0046950)3.47221225
17photoreceptor cell maintenance (GO:0045494)3.46563850
18mechanosensory behavior (GO:0007638)3.40783089
19negative regulation of translation, ncRNA-mediated (GO:0040033)3.39706345
20regulation of translation, ncRNA-mediated (GO:0045974)3.39706345
21negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.39706345
22positive regulation of action potential (GO:0045760)3.37182534
23protein complex biogenesis (GO:0070271)3.37048154
24aldehyde catabolic process (GO:0046185)3.34756098
25isoprenoid biosynthetic process (GO:0008299)3.27052492
26branched-chain amino acid catabolic process (GO:0009083)3.26276184
27neuronal action potential propagation (GO:0019227)3.25491059
28sympathetic nervous system development (GO:0048485)3.24691716
29negative regulation of neurotransmitter transport (GO:0051589)3.18655475
30regulation of cilium movement (GO:0003352)3.17959854
31dopamine biosynthetic process (GO:0042416)3.17230887
32protein-cofactor linkage (GO:0018065)3.15081278
33DNA replication-dependent nucleosome organization (GO:0034723)3.10158131
34DNA replication-dependent nucleosome assembly (GO:0006335)3.10158131
35negative regulation of calcium ion-dependent exocytosis (GO:0045955)3.09992875
36protein K6-linked ubiquitination (GO:0085020)3.09076091
37vocalization behavior (GO:0071625)3.08336504
38ketone body metabolic process (GO:1902224)3.04088519
39retinal ganglion cell axon guidance (GO:0031290)3.03523874
40ionotropic glutamate receptor signaling pathway (GO:0035235)3.01064877
41ribonucleoprotein complex disassembly (GO:0032988)2.99391426
42cytochrome complex assembly (GO:0017004)2.98475880
43mitochondrial respiratory chain complex assembly (GO:0033108)2.97612280
44platelet dense granule organization (GO:0060155)2.96878981
45cullin deneddylation (GO:0010388)2.95313707
46glial cell proliferation (GO:0014009)2.92974818
47regulation of hexokinase activity (GO:1903299)2.89204029
48regulation of glucokinase activity (GO:0033131)2.89204029
49ubiquinone biosynthetic process (GO:0006744)2.88379523
50C4-dicarboxylate transport (GO:0015740)2.87987357
51neuron cell-cell adhesion (GO:0007158)2.87800348
52head development (GO:0060322)2.87348990
53positive regulation of vesicle fusion (GO:0031340)2.82921685
54retinal cone cell development (GO:0046549)2.81987464
55detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)2.80462986
56lactate metabolic process (GO:0006089)2.80158518
57histone H3-K4 trimethylation (GO:0080182)2.79610621
58negative regulation of synaptic transmission, GABAergic (GO:0032229)2.78053403
59neuron recognition (GO:0008038)2.78030784
60replication fork processing (GO:0031297)2.76240858
61inositol phosphate catabolic process (GO:0071545)2.75136746
62presynaptic membrane assembly (GO:0097105)2.71000479
63iron coordination entity transport (GO:1901678)2.70897642
64DNA catabolic process, exonucleolytic (GO:0000738)2.68971317
65glycosphingolipid biosynthetic process (GO:0006688)2.68008495
66mitochondrial respiratory chain complex I assembly (GO:0032981)2.67939960
67NADH dehydrogenase complex assembly (GO:0010257)2.67939960
68mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.67939960
69quinone metabolic process (GO:1901661)2.67139549
70serotonin receptor signaling pathway (GO:0007210)2.66957403
71regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.65697267
72negative regulation of hormone biosynthetic process (GO:0032353)2.64890817
73dopamine transport (GO:0015872)2.64589503
74positive regulation of synapse assembly (GO:0051965)2.64530215
75nerve growth factor signaling pathway (GO:0038180)2.63662190
76negative regulation of protein localization to cell surface (GO:2000009)2.62425733
77ganglioside metabolic process (GO:0001573)2.62227237
78negative regulation of epidermal cell differentiation (GO:0045605)2.62089796
79kidney morphogenesis (GO:0060993)2.61631951
80exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.61153263
81dicarboxylic acid catabolic process (GO:0043649)2.60393790
82parental behavior (GO:0060746)2.60376502
83protein deneddylation (GO:0000338)2.58569943
84regulation of Golgi to plasma membrane protein transport (GO:0042996)2.58507294
85ganglion development (GO:0061548)2.58141632
86regulation of action potential (GO:0098900)2.57881583
87monoubiquitinated protein deubiquitination (GO:0035520)2.57633422
88aspartate family amino acid catabolic process (GO:0009068)2.57433511
89positive regulation of mitochondrial fission (GO:0090141)2.57409665
90coenzyme catabolic process (GO:0009109)2.56740678
91organelle disassembly (GO:1903008)2.56690787
92neuronal action potential (GO:0019228)2.55936897
93negative regulation of interleukin-10 production (GO:0032693)2.55624531
94detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.54405234
95pyrimidine nucleobase catabolic process (GO:0006208)2.53600096
96nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.53559186
97embryonic epithelial tube formation (GO:0001838)2.50667610
98morphogenesis of an endothelium (GO:0003159)2.50300431
99endothelial tube morphogenesis (GO:0061154)2.50300431
100response to X-ray (GO:0010165)2.49611840

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.04671401
2SALL1_21062744_ChIP-ChIP_HESCs_Human4.03367586
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.58058204
4VDR_22108803_ChIP-Seq_LS180_Human3.17952682
5ZNF274_21170338_ChIP-Seq_K562_Hela3.17365444
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.99761784
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.94627814
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.90943635
9IGF1R_20145208_ChIP-Seq_DFB_Human2.86512486
10GBX2_23144817_ChIP-Seq_PC3_Human2.84567569
11TAF15_26573619_Chip-Seq_HEK293_Human2.49070287
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.37609053
13ELK1_19687146_ChIP-ChIP_HELA_Human2.31977377
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.31418634
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.30997803
16CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25425052
17FUS_26573619_Chip-Seq_HEK293_Human2.14704345
18EWS_26573619_Chip-Seq_HEK293_Human2.05652716
19SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.97943736
20NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.95718486
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.94909079
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.93568008
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.93040289
24EZH2_22144423_ChIP-Seq_EOC_Human1.89556930
25P300_19829295_ChIP-Seq_ESCs_Human1.87213699
26EST1_17652178_ChIP-ChIP_JURKAT_Human1.85001264
27OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.84197956
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.83361161
29SMAD_19615063_ChIP-ChIP_OVARY_Human1.81644926
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.80447389
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.73736440
32UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68379344
33SMAD4_21799915_ChIP-Seq_A2780_Human1.63416685
34ER_23166858_ChIP-Seq_MCF-7_Human1.62600759
35MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.59854774
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.59665014
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56661012
38PADI4_21655091_ChIP-ChIP_MCF-7_Human1.53856743
39CBP_20019798_ChIP-Seq_JUKART_Human1.53799222
40IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.53799222
41NOTCH1_21737748_ChIP-Seq_TLL_Human1.48897666
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.48896556
43RNF2_27304074_Chip-Seq_NSC_Mouse1.45748284
44TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.44157461
45TCF4_22108803_ChIP-Seq_LS180_Human1.43811325
46KLF5_20875108_ChIP-Seq_MESCs_Mouse1.42475875
47TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41119017
48POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.41119017
49NANOG_18555785_Chip-Seq_ESCs_Mouse1.39615671
50KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.39214755
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32327973
52TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.31554982
53AR_25329375_ChIP-Seq_VCAP_Human1.31371399
54STAT3_23295773_ChIP-Seq_U87_Human1.30940934
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.27659811
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26983735
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.25762844
58FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.25551928
59PCGF2_27294783_Chip-Seq_ESCs_Mouse1.24618653
60VDR_23849224_ChIP-Seq_CD4+_Human1.23769805
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23336822
62FLI1_27457419_Chip-Seq_LIVER_Mouse1.23089081
63CREB1_15753290_ChIP-ChIP_HEK293T_Human1.21840770
64SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.21562559
65TCF4_23295773_ChIP-Seq_U87_Human1.18290052
66CJUN_26792858_Chip-Seq_BT549_Human1.16242315
67POU5F1_16153702_ChIP-ChIP_HESCs_Human1.16118516
68RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.15171593
69EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13989895
70EZH2_27294783_Chip-Seq_NPCs_Mouse1.11291507
71RUNX2_22187159_ChIP-Seq_PCA_Human1.11015141
72P53_22387025_ChIP-Seq_ESCs_Mouse1.10712852
73P300_18555785_Chip-Seq_ESCs_Mouse1.09961237
74SOX2_19829295_ChIP-Seq_ESCs_Human1.07391734
75NANOG_19829295_ChIP-Seq_ESCs_Human1.07391734
76CDX2_22108803_ChIP-Seq_LS180_Human1.06890070
77SUZ12_27294783_Chip-Seq_NPCs_Mouse1.06793767
78TP53_22573176_ChIP-Seq_HFKS_Human1.05966956
79HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.05673427
80TAL1_26923725_Chip-Seq_HPCs_Mouse1.05151571
81LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04094630
82PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.03939789
83CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03913776
84CMYC_18555785_Chip-Seq_ESCs_Mouse1.03583987
85BCAT_22108803_ChIP-Seq_LS180_Human1.03225443
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01894448
87TP53_18474530_ChIP-ChIP_U2OS_Human1.01659725
88NRF2_20460467_ChIP-Seq_MEFs_Mouse1.01566737
89NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.01566737
90CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.00644499
91FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.00011899
92GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99872892
93TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99067260
94RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.98513199
95FLI1_21867929_ChIP-Seq_TH2_Mouse0.97873866
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96772016
97NFE2_27457419_Chip-Seq_LIVER_Mouse0.96067673
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.95899988
99SMAD4_21741376_ChIP-Seq_EPCs_Human0.95568406
100CRX_20693478_ChIP-Seq_RETINA_Mouse0.94807506

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology4.40802141
2MP0008877_abnormal_DNA_methylation3.16338873
3MP0003787_abnormal_imprinting2.98413581
4MP0008058_abnormal_DNA_repair2.97292642
5MP0002736_abnormal_nociception_after2.88756259
6MP0002277_abnormal_respiratory_mucosa2.78851819
7MP0005646_abnormal_pituitary_gland2.59036936
8MP0008789_abnormal_olfactory_epithelium2.44490748
9MP0001968_abnormal_touch/_nociception2.43451461
10MP0003122_maternal_imprinting2.35124616
11MP0004142_abnormal_muscle_tone2.31612855
12MP0005248_abnormal_Harderian_gland2.29016171
13MP0001984_abnormal_olfaction2.28205464
14MP0003121_genomic_imprinting2.25892509
15MP0003806_abnormal_nucleotide_metabolis2.23690102
16MP0005645_abnormal_hypothalamus_physiol2.18857350
17MP0003045_fibrosis2.07070271
18MP0000569_abnormal_digit_pigmentation2.04454863
19MP0002139_abnormal_hepatobiliary_system2.04053451
20MP0000049_abnormal_middle_ear1.93992515
21MP0003786_premature_aging1.87729314
22MP0001764_abnormal_homeostasis1.84128762
23MP0005367_renal/urinary_system_phenotyp1.83161460
24MP0000516_abnormal_urinary_system1.83161460
25MP0002233_abnormal_nose_morphology1.82826797
26MP0005394_taste/olfaction_phenotype1.77984065
27MP0005499_abnormal_olfactory_system1.77984065
28MP0002272_abnormal_nervous_system1.77004012
29MP0003186_abnormal_redox_activity1.76590915
30MP0002751_abnormal_autonomic_nervous1.57692473
31MP0008995_early_reproductive_senescence1.57097918
32MP0005084_abnormal_gallbladder_morpholo1.54697595
33MP0001905_abnormal_dopamine_level1.54541423
34MP0002184_abnormal_innervation1.53389993
35MP0001188_hyperpigmentation1.52071380
36MP0003567_abnormal_fetal_cardiomyocyte1.51226956
37MP0003937_abnormal_limbs/digits/tail_de1.51010474
38MP0004885_abnormal_endolymph1.49098255
39MP0005085_abnormal_gallbladder_physiolo1.41715699
40MP0001440_abnormal_grooming_behavior1.40574810
41MP0001485_abnormal_pinna_reflex1.39068167
42MP0002282_abnormal_trachea_morphology1.34323386
43MP0006072_abnormal_retinal_apoptosis1.32512256
44MP0005253_abnormal_eye_physiology1.27797068
45MP0009745_abnormal_behavioral_response1.27684756
46MP0000462_abnormal_digestive_system1.24457425
47MP0009697_abnormal_copulation1.19688599
48MP0003890_abnormal_embryonic-extraembry1.18208086
49MP0003938_abnormal_ear_development1.17877497
50MP0001486_abnormal_startle_reflex1.16378839
51MP0002733_abnormal_thermal_nociception1.15789673
52MP0009250_abnormal_appendicular_skeleto1.14624643
53MP0002572_abnormal_emotion/affect_behav1.13151598
54MP0004811_abnormal_neuron_physiology1.10951618
55MP0001970_abnormal_pain_threshold1.10746583
56MP0003119_abnormal_digestive_system1.07436292
57MP0003635_abnormal_synaptic_transmissio1.05915158
58MP0005174_abnormal_tail_pigmentation1.04193103
59MP0006276_abnormal_autonomic_nervous1.02625196
60MP0003755_abnormal_palate_morphology1.01623350
61MP0001529_abnormal_vocalization0.99614928
62MP0004043_abnormal_pH_regulation0.98947807
63MP0002095_abnormal_skin_pigmentation0.98811440
64MP0002177_abnormal_outer_ear0.98660159
65MP0004133_heterotaxia0.96519296
66MP0002063_abnormal_learning/memory/cond0.96331455
67MP0002064_seizures0.95632599
68MP0003693_abnormal_embryo_hatching0.94044851
69MP0002067_abnormal_sensory_capabilities0.91054096
70MP0003718_maternal_effect0.89952403
71MP0008872_abnormal_physiological_respon0.88197462
72MP0002557_abnormal_social/conspecific_i0.84172298
73MP0001929_abnormal_gametogenesis0.80004513
74MP0004085_abnormal_heartbeat0.79845266
75MP0004270_analgesia0.79049316
76MP0002837_dystrophic_cardiac_calcinosis0.76848155
77MP0003880_abnormal_central_pattern0.75358920
78MP0004883_abnormal_blood_vessel0.74951403
79MP0000015_abnormal_ear_pigmentation0.74497842
80MP0000465_gastrointestinal_hemorrhage0.73720918
81MP0001986_abnormal_taste_sensitivity0.72228278
82MP0005187_abnormal_penis_morphology0.71862441
83MP0003646_muscle_fatigue0.71671111
84MP0001502_abnormal_circadian_rhythm0.71065748
85MP0000427_abnormal_hair_cycle0.69058226
86MP0005360_urolithiasis0.68623449
87MP0001545_abnormal_hematopoietic_system0.67309856
88MP0005397_hematopoietic_system_phenotyp0.67309856
89MP0005395_other_phenotype0.67212790
90MP0000955_abnormal_spinal_cord0.67179387
91MP0003123_paternal_imprinting0.66475248
92MP0003252_abnormal_bile_duct0.66235055
93MP0002249_abnormal_larynx_morphology0.65563267
94MP0008875_abnormal_xenobiotic_pharmacok0.64629211
95MP0005376_homeostasis/metabolism_phenot0.64145679
96MP0010368_abnormal_lymphatic_system0.63915542
97MP0000647_abnormal_sebaceous_gland0.62969398
98MP0000653_abnormal_sex_gland0.62872197
99MP0001177_atelectasis0.62329872
100MP0003861_abnormal_nervous_system0.62193434

Predicted human phenotypes

RankGene SetZ-score
1Hypoplastic pelvis (HP:0008839)5.70147604
2Dry hair (HP:0011359)4.96386290
3Gonadotropin excess (HP:0000837)4.39998854
4Decreased lacrimation (HP:0000633)4.37161201
5Abnormal auditory evoked potentials (HP:0006958)3.80396175
6Cortical dysplasia (HP:0002539)3.55828320
7Ulnar claw (HP:0001178)3.54515946
8Entropion (HP:0000621)3.51029919
9Reduced subcutaneous adipose tissue (HP:0003758)3.50411656
10Anhidrosis (HP:0000970)3.48199599
11Poikiloderma (HP:0001029)3.39279715
12Abolished electroretinogram (ERG) (HP:0000550)3.37538887
13Median cleft lip (HP:0000161)3.22988025
14Volvulus (HP:0002580)3.17019630
15Nephrogenic diabetes insipidus (HP:0009806)2.92397106
16Hypoplastic iliac wings (HP:0002866)2.90844740
17Papillary thyroid carcinoma (HP:0002895)2.84343349
18Hypochromic microcytic anemia (HP:0004840)2.82427251
19Methylmalonic acidemia (HP:0002912)2.80178148
20Medial flaring of the eyebrow (HP:0010747)2.66856102
21Abnormality of DNA repair (HP:0003254)2.66589848
22Reduced antithrombin III activity (HP:0001976)2.62213963
23Epidermoid cyst (HP:0200040)2.61728716
24Prominent metopic ridge (HP:0005487)2.60389133
25Progressive inability to walk (HP:0002505)2.58986882
26Abnormality of alanine metabolism (HP:0010916)2.56887511
27Hyperalaninemia (HP:0003348)2.56887511
28Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.56887511
29Neoplasm of the oral cavity (HP:0100649)2.54955228
30Thickened calvaria (HP:0002684)2.52651961
31Congenital primary aphakia (HP:0007707)2.50269741
32Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.49622755
33Degeneration of the lateral corticospinal tracts (HP:0002314)2.49622755
34Abnormality of the metopic suture (HP:0005556)2.48278861
35Gait imbalance (HP:0002141)2.46505746
36Stomach cancer (HP:0012126)2.46343135
37Unilateral renal agenesis (HP:0000122)2.44864501
38Hyperventilation (HP:0002883)2.44564529
39Absent speech (HP:0001344)2.40287458
40Acute necrotizing encephalopathy (HP:0006965)2.39316795
41Broad-based gait (HP:0002136)2.38485444
42Optic nerve hypoplasia (HP:0000609)2.38333811
43Hepatoblastoma (HP:0002884)2.33520910
443-Methylglutaconic aciduria (HP:0003535)2.32470164
45Small hand (HP:0200055)2.31319619
46CNS demyelination (HP:0007305)2.29729804
47Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.29279273
48Progressive macrocephaly (HP:0004481)2.28039336
49Colon cancer (HP:0003003)2.22911285
50Mesomelia (HP:0003027)2.20501039
51Intellectual disability, progressive (HP:0006887)2.17505564
52Large earlobe (HP:0009748)2.15244109
53Widely spaced teeth (HP:0000687)2.14192868
54Drooling (HP:0002307)2.13669341
55Dysdiadochokinesis (HP:0002075)2.08219980
56Limb dystonia (HP:0002451)2.08154016
57Lissencephaly (HP:0001339)2.08142673
58Split foot (HP:0001839)2.07740923
59Spastic paraparesis (HP:0002313)2.06242422
60Broad foot (HP:0001769)2.04223743
61Genital tract atresia (HP:0001827)2.00519409
62Abnormality of the vitamin B12 metabolism (HP:0004341)1.99928282
63Facial cleft (HP:0002006)1.98581257
64Mitochondrial inheritance (HP:0001427)1.98330082
65Vaginal atresia (HP:0000148)1.98273473
66Thyroid carcinoma (HP:0002890)1.97664130
67Acute encephalopathy (HP:0006846)1.97430515
68Hypothermia (HP:0002045)1.97270838
69Mutism (HP:0002300)1.96331831
70Peripheral hypomyelination (HP:0007182)1.96031471
71Congenital hepatic fibrosis (HP:0002612)1.94945806
72Excessive salivation (HP:0003781)1.94362155
73Abnormality of the corticospinal tract (HP:0002492)1.91389764
74Increased CSF lactate (HP:0002490)1.88510934
75Impaired vibration sensation in the lower limbs (HP:0002166)1.85981747
76Hepatocellular necrosis (HP:0001404)1.85291654
77Neoplasm of the adrenal cortex (HP:0100641)1.83965053
78Abnormality of vitamin B metabolism (HP:0004340)1.83602854
79Bile duct proliferation (HP:0001408)1.82750473
80Abnormal biliary tract physiology (HP:0012439)1.82750473
81Prominent supraorbital ridges (HP:0000336)1.82337937
82Basal ganglia calcification (HP:0002135)1.81336976
83Abnormal mitochondria in muscle tissue (HP:0008316)1.79519249
84Short foot (HP:0001773)1.79413423
85Conjugated hyperbilirubinemia (HP:0002908)1.77975372
86Abnormality of aromatic amino acid family metabolism (HP:0004338)1.77745281
87Failure to thrive in infancy (HP:0001531)1.77596516
88Ectropion (HP:0000656)1.75814901
89Renal Fanconi syndrome (HP:0001994)1.75771435
90Aplasia/Hypoplasia of the tibia (HP:0005772)1.75712100
91Septo-optic dysplasia (HP:0100842)1.73766544
92Termporal pattern (HP:0011008)1.73340525
93Insidious onset (HP:0003587)1.73340525
94Ketoacidosis (HP:0001993)1.73076511
95Micropenis (HP:0000054)1.72234155
96Polyphagia (HP:0002591)1.71740391
97Increased hepatocellular lipid droplets (HP:0006565)1.71286936
98Increased serum pyruvate (HP:0003542)1.69133958
99Hemiparesis (HP:0001269)1.68836629
100Absent hand (HP:0004050)1.68835242

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.44777445
2TRIM283.93529913
3FRK3.19172619
4CASK2.63285957
5MAP3K42.57297739
6STK38L2.45544815
7BRD42.35466126
8MAP2K72.33211594
9BMPR1B2.29661458
10WNK32.09863319
11ADRBK21.99533304
12RPS6KA41.86193896
13EIF2AK31.80725049
14EPHA31.80505632
15MAP4K21.80197218
16SRPK11.78221721
17NUAK11.76974986
18MKNK21.70336246
19ERBB31.70335899
20OXSR11.68926930
21CSNK1G31.68770678
22CSNK1G21.65661759
23TSSK61.63900857
24MKNK11.63178828
25TAOK31.62665769
26BUB11.55076219
27NEK11.55001254
28NEK61.50174340
29CDK191.50003409
30PINK11.46201961
31CSNK1G11.45055320
32MAPK131.38727467
33STK391.33771896
34DAPK21.30559668
35MAP3K61.17942962
36BCR1.13197401
37MINK11.12669141
38PLK21.11724521
39RPS6KA51.09475465
40ERBB41.08351959
41FGR1.07175155
42CDK31.05897253
43PLK31.02148323
44STK380.99835436
45PRKCG0.97932850
46ZAK0.97493937
47CSNK1A1L0.96983631
48CAMKK20.95089779
49GRK10.93441320
50LIMK10.92051019
51PRKCE0.89064938
52MST40.88999984
53EIF2AK10.79283257
54TNIK0.79200053
55MAP2K40.75420413
56MAP3K30.72667737
57SGK20.69271939
58PDK20.65511770
59CAMK2G0.63390046
60ABL20.60690072
61ROCK10.60270216
62UHMK10.57629353
63PRKG10.57626894
64PBK0.55956086
65LMTK20.54334849
66SIK30.53623636
67PRKG20.51587670
68ABL10.50907220
69PLK10.50752590
70PAK30.49967742
71INSRR0.49832940
72FGFR10.48758712
73STK160.48563634
74CAMK40.48397336
75TBK10.44822503
76IGF1R0.43154624
77DYRK20.42518251
78CAMK2A0.38143474
79PNCK0.36916344
80CAMK2B0.35318895
81GRK70.34738872
82FES0.34560720
83PIK3CG0.34294551
84CSNK1D0.33966241
85MAPK40.33539546
86PRKACA0.33362682
87SGK2230.32785740
88SGK4940.32785740
89EGFR0.31578897
90PHKG10.31127180
91PHKG20.31127180
92RPS6KA10.30060846
93KSR10.29732012
94PRKCI0.29707175
95EIF2AK20.28428943
96ATM0.27926998
97AKT30.27773928
98SGK30.27262178
99PRKACG0.26024856
100WEE10.25864095

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.35568875
2Nicotine addiction_Homo sapiens_hsa050333.28435918
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.24705476
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.22357948
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.01382772
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.66118664
7Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.53214076
8Butanoate metabolism_Homo sapiens_hsa006502.33137924
9Taste transduction_Homo sapiens_hsa047422.18218804
10Proteasome_Homo sapiens_hsa030502.10550960
11Propanoate metabolism_Homo sapiens_hsa006402.07550480
12Basal transcription factors_Homo sapiens_hsa030221.95783570
13Collecting duct acid secretion_Homo sapiens_hsa049661.91203005
14Folate biosynthesis_Homo sapiens_hsa007901.89152027
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.85751364
16Nitrogen metabolism_Homo sapiens_hsa009101.82620707
17Fatty acid degradation_Homo sapiens_hsa000711.75871400
18Vitamin B6 metabolism_Homo sapiens_hsa007501.68287244
19Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.66245885
20Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.64097406
21Primary bile acid biosynthesis_Homo sapiens_hsa001201.60897843
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.58327047
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.57203136
24Peroxisome_Homo sapiens_hsa041461.50089530
25Dopaminergic synapse_Homo sapiens_hsa047281.49679161
26Steroid biosynthesis_Homo sapiens_hsa001001.46063643
27Oxidative phosphorylation_Homo sapiens_hsa001901.44361387
28Fanconi anemia pathway_Homo sapiens_hsa034601.43369594
29beta-Alanine metabolism_Homo sapiens_hsa004101.43303507
30Amphetamine addiction_Homo sapiens_hsa050311.41636983
31Nucleotide excision repair_Homo sapiens_hsa034201.40639771
32Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.33439481
33Tryptophan metabolism_Homo sapiens_hsa003801.18990321
34Chemical carcinogenesis_Homo sapiens_hsa052041.17562052
35Fatty acid elongation_Homo sapiens_hsa000621.17042649
36Cocaine addiction_Homo sapiens_hsa050301.16472081
37RNA degradation_Homo sapiens_hsa030181.15486698
38GABAergic synapse_Homo sapiens_hsa047271.15209479
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.10607703
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.09529998
41Fatty acid metabolism_Homo sapiens_hsa012121.07158993
42Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.06829752
43Glutamatergic synapse_Homo sapiens_hsa047241.06021299
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.05804380
45Vibrio cholerae infection_Homo sapiens_hsa051101.04329872
46Parkinsons disease_Homo sapiens_hsa050121.01560610
47Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.99959982
48Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.98767974
49Steroid hormone biosynthesis_Homo sapiens_hsa001400.98619185
50Maturity onset diabetes of the young_Homo sapiens_hsa049500.95745273
51Olfactory transduction_Homo sapiens_hsa047400.94248108
52Circadian entrainment_Homo sapiens_hsa047130.91567613
53Glycerolipid metabolism_Homo sapiens_hsa005610.87301948
54Morphine addiction_Homo sapiens_hsa050320.86829497
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.86656376
56RNA transport_Homo sapiens_hsa030130.86500466
57Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.86347188
58Pyruvate metabolism_Homo sapiens_hsa006200.85346594
59Glutathione metabolism_Homo sapiens_hsa004800.83360137
60Serotonergic synapse_Homo sapiens_hsa047260.81897105
61Huntingtons disease_Homo sapiens_hsa050160.80549272
62Caffeine metabolism_Homo sapiens_hsa002320.77972523
63Dorso-ventral axis formation_Homo sapiens_hsa043200.76361995
64Base excision repair_Homo sapiens_hsa034100.74255361
65Retinol metabolism_Homo sapiens_hsa008300.68182536
66Spliceosome_Homo sapiens_hsa030400.65801285
67Selenocompound metabolism_Homo sapiens_hsa004500.65082778
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.64860490
69Synaptic vesicle cycle_Homo sapiens_hsa047210.62382365
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60384090
71ABC transporters_Homo sapiens_hsa020100.59966844
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.59844047
73Ether lipid metabolism_Homo sapiens_hsa005650.59264994
74TGF-beta signaling pathway_Homo sapiens_hsa043500.59176213
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54618508
76RNA polymerase_Homo sapiens_hsa030200.54386305
77PPAR signaling pathway_Homo sapiens_hsa033200.53360544
78Oocyte meiosis_Homo sapiens_hsa041140.52304709
79Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51821835
80Metabolic pathways_Homo sapiens_hsa011000.45262234
81Insulin secretion_Homo sapiens_hsa049110.44866980
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.42768759
83Circadian rhythm_Homo sapiens_hsa047100.42754225
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.42243443
85Regulation of autophagy_Homo sapiens_hsa041400.40483179
86mRNA surveillance pathway_Homo sapiens_hsa030150.38551188
87Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.36408950
88Phototransduction_Homo sapiens_hsa047440.36213740
89Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35521922
90cAMP signaling pathway_Homo sapiens_hsa040240.35429997
91Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.34842472
92Arachidonic acid metabolism_Homo sapiens_hsa005900.32302756
93Long-term depression_Homo sapiens_hsa047300.32107930
94Sphingolipid metabolism_Homo sapiens_hsa006000.32023046
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31515689
96Purine metabolism_Homo sapiens_hsa002300.30119104
97Hedgehog signaling pathway_Homo sapiens_hsa043400.27613209
98Transcriptional misregulation in cancer_Homo sapiens_hsa052020.27239895
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.27151121
100Mineral absorption_Homo sapiens_hsa049780.26112992

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