RAD51L3-RFFL

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 locus represents naturally occurring read-through transcription between the neighboring RAD51-like 3 (RAD51L3) and ring finger and FYVE-like domain containing 1 (RFFL) genes on chromosome 17. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of activation of Janus kinase activity (GO:0010533)7.78884466
2rRNA methylation (GO:0031167)6.58763389
3rRNA modification (GO:0000154)6.08809747
4DNA deamination (GO:0045006)5.55945833
5pyrimidine deoxyribonucleotide catabolic process (GO:0009223)5.46340949
6growth hormone receptor signaling pathway (GO:0060396)5.22987905
7regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)5.05038625
8regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.04666915
9protein polyglutamylation (GO:0018095)4.90325709
10pentose metabolic process (GO:0019321)4.86600496
11proteasome assembly (GO:0043248)4.80524131
12cytidine metabolic process (GO:0046087)4.72268548
13cytidine catabolic process (GO:0006216)4.72268548
14cytidine deamination (GO:0009972)4.72268548
15cellular response to growth hormone stimulus (GO:0071378)4.65218903
16pyrimidine nucleotide catabolic process (GO:0006244)4.55850648
17muscle cell fate commitment (GO:0042693)4.41569460
18ATP synthesis coupled proton transport (GO:0015986)4.31203769
19energy coupled proton transport, down electrochemical gradient (GO:0015985)4.31203769
20replicative senescence (GO:0090399)4.28666749
21negative regulation of organelle assembly (GO:1902116)4.14589247
22mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.02941709
23pyrimidine ribonucleoside catabolic process (GO:0046133)3.98234517
24pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.94089487
25chaperone-mediated protein transport (GO:0072321)3.88247476
26urea cycle (GO:0000050)3.87950699
27positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.83691113
28establishment of protein localization to mitochondrial membrane (GO:0090151)3.74634911
29peptidyl-histidine modification (GO:0018202)3.69482885
30single strand break repair (GO:0000012)3.64316451
31protein complex biogenesis (GO:0070271)3.62787034
32mannosylation (GO:0097502)3.62752824
33pharyngeal system development (GO:0060037)3.60701373
34positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.60576813
35positive regulation of T cell apoptotic process (GO:0070234)3.54798045
36cell migration involved in gastrulation (GO:0042074)3.51828278
37positive regulation of receptor internalization (GO:0002092)3.49134679
38resolution of meiotic recombination intermediates (GO:0000712)3.49046111
39urea metabolic process (GO:0019627)3.43977467
40protein targeting to mitochondrion (GO:0006626)3.43884934
41metallo-sulfur cluster assembly (GO:0031163)3.41274523
42iron-sulfur cluster assembly (GO:0016226)3.41274523
43outflow tract septum morphogenesis (GO:0003148)3.40282703
44ribosomal small subunit biogenesis (GO:0042274)3.39012639
45protoporphyrinogen IX biosynthetic process (GO:0006782)3.33915470
46mitochondrial respiratory chain complex assembly (GO:0033108)3.33706926
47tooth mineralization (GO:0034505)3.26020402
48GTP biosynthetic process (GO:0006183)3.25669821
49regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.22814141
50deoxyribonucleotide catabolic process (GO:0009264)3.22549443
51deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.21485262
52oxidative phosphorylation (GO:0006119)3.20118022
53viral transcription (GO:0019083)3.18111600
54glutamine family amino acid biosynthetic process (GO:0009084)3.17701598
55purine nucleoside triphosphate biosynthetic process (GO:0009145)3.15978713
56purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.14964098
57regulation of mitochondrial translation (GO:0070129)3.14906318
58motile cilium assembly (GO:0044458)3.11711824
59ATP biosynthetic process (GO:0006754)3.11583343
60tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.11256216
61RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.11256216
62establishment of protein localization to mitochondrion (GO:0072655)3.10947218
63rRNA transcription (GO:0009303)3.09312716
64cellular response to ATP (GO:0071318)3.07524028
65deoxyribose phosphate catabolic process (GO:0046386)3.05402197
66kinetochore assembly (GO:0051382)3.04376557
67ubiquinone biosynthetic process (GO:0006744)3.02611987
68translational termination (GO:0006415)2.99133337
69male meiosis I (GO:0007141)2.97950641
70regulation of mitochondrial membrane permeability (GO:0046902)2.96472995
71DNA strand renaturation (GO:0000733)2.95909698
72protein localization to mitochondrion (GO:0070585)2.95097129
73mitochondrial respiratory chain complex I assembly (GO:0032981)2.92122085
74NADH dehydrogenase complex assembly (GO:0010257)2.92122085
75mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.92122085
76ribonucleoside triphosphate biosynthetic process (GO:0009201)2.91924876
77protein maturation by protein folding (GO:0022417)2.91039258
78arginine metabolic process (GO:0006525)2.90488243
79UTP biosynthetic process (GO:0006228)2.90375856
80response to pheromone (GO:0019236)2.87363543
81ribosomal small subunit assembly (GO:0000028)2.87332569
82outer ear morphogenesis (GO:0042473)2.84458588
83nitrogen cycle metabolic process (GO:0071941)2.82696458
84piRNA metabolic process (GO:0034587)2.82682091
85regulation of helicase activity (GO:0051095)2.82187971
86base-excision repair, AP site formation (GO:0006285)2.78801587
87regulation of membrane permeability (GO:0090559)2.78685252
88translational elongation (GO:0006414)2.77993344
89spliceosomal complex assembly (GO:0000245)2.75339745
90mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.75146980
91protoporphyrinogen IX metabolic process (GO:0046501)2.73288752
92CTP metabolic process (GO:0046036)2.72986925
93CTP biosynthetic process (GO:0006241)2.72986925
94meiosis I (GO:0007127)2.72582722
95kinetochore organization (GO:0051383)2.72538658
96positive regulation of lymphocyte apoptotic process (GO:0070230)2.71095938
97sperm motility (GO:0030317)2.69675070
98pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.67495611
99thyroid gland development (GO:0030878)2.67236387
100RNA methylation (GO:0001510)2.66999340

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1HCFC1_20581084_ChIP-Seq_MESCs_Mouse4.06567309
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.74473955
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.62799556
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.61770058
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.54748616
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.52772145
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.32933383
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.23389402
9MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.07048564
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.02280583
11SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.94950214
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.89343103
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.77466042
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.74628733
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.71671691
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.69898573
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.30556875
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.30253611
19STAT6_21828071_ChIP-Seq_BEAS2B_Human2.27328664
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.17676347
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.11528115
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.10301048
23VDR_23849224_ChIP-Seq_CD4+_Human2.09697628
24GABP_19822575_ChIP-Seq_HepG2_Human2.00334433
25CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.98667183
26XRN2_22483619_ChIP-Seq_HELA_Human1.97023138
27SRF_21415370_ChIP-Seq_HL-1_Mouse1.89211457
28CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.89181646
29YY1_21170310_ChIP-Seq_MESCs_Mouse1.88951632
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.88738546
31FOXP3_21729870_ChIP-Seq_TREG_Human1.76440956
32CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.75705828
33HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72826695
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.70131977
35FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.69853793
36E2F1_18555785_ChIP-Seq_MESCs_Mouse1.63918451
37BCL6_27268052_Chip-Seq_Bcells_Human1.60138620
38DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.57755764
39CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.57547127
40SOX2_18555785_ChIP-Seq_MESCs_Mouse1.56796037
41CTCF_18555785_ChIP-Seq_MESCs_Mouse1.54983699
42TP63_19390658_ChIP-ChIP_HaCaT_Human1.54955250
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.51985841
44MYC_19079543_ChIP-ChIP_MESCs_Mouse1.49026696
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48092014
46TET1_21451524_ChIP-Seq_MESCs_Mouse1.46591621
47RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.39172801
48FOXP1_21924763_ChIP-Seq_HESCs_Human1.38691277
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.36586918
50TTF2_22483619_ChIP-Seq_HELA_Human1.33065196
51DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.32684839
52SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.30110899
53CTCF_20526341_ChIP-Seq_ESCs_Human1.27126180
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27051749
55ELK1_19687146_ChIP-ChIP_HELA_Human1.26791871
56CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.26589775
57STAT1_20625510_ChIP-Seq_HELA_Human1.26580459
58MYC_18940864_ChIP-ChIP_HL60_Human1.24651270
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.24454042
60FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.24336221
61ZNF263_19887448_ChIP-Seq_K562_Human1.22545557
62KDM5A_27292631_Chip-Seq_BREAST_Human1.21856500
63CTCF_21964334_Chip-Seq_Bcells_Human1.21298321
64KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.20377873
65IRF1_19129219_ChIP-ChIP_H3396_Human1.19764866
66DCP1A_22483619_ChIP-Seq_HELA_Human1.17738987
67FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.13810625
68E2F1_20622854_ChIP-Seq_HELA_Human1.13342926
69P68_20966046_ChIP-Seq_HELA_Human1.13203643
70EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.11783293
71E2F4_17652178_ChIP-ChIP_JURKAT_Human1.10513081
72POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.10110776
73BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.08699395
74RARA_24833708_ChIP-Seq_LIVER_Mouse1.08065087
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.08055462
76ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.06877999
77PHF8_20622854_ChIP-Seq_HELA_Human1.06089740
78SRY_22984422_ChIP-ChIP_TESTIS_Rat1.05455829
79TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04896461
80STAT4_19710469_ChIP-ChIP_TH1__Mouse1.04731008
81YY1_22570637_ChIP-Seq_MALME-3M_Human1.01992025
82ERA_21632823_ChIP-Seq_H3396_Human1.01328866
83SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01254592
84GATA3_21878914_ChIP-Seq_MCF-7_Human0.97460154
85NELFA_20434984_ChIP-Seq_ESCs_Mouse0.97135644
86MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.96864703
87MAF_26560356_Chip-Seq_TH2_Human0.96386321
88SOX2_22085726_ChIP-Seq_NPCs_Mouse0.94334707
89CTCF_21964334_ChIP-Seq_BJAB-B_Human0.93700803
90BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.93034418
91LXR_22292898_ChIP-Seq_THP-1_Human0.92778064
92TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.91825223
93BP1_19119308_ChIP-ChIP_Hs578T_Human0.91654378
94AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91505615
95CTCF_26484167_Chip-Seq_Bcells_Mouse0.88869060
96E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.88559082
97BCOR_27268052_Chip-Seq_Bcells_Human0.88524946
98VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.88396340
99POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.87482385
100SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.87321008

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002822_catalepsy4.91237302
2MP0005451_abnormal_body_composition4.10982062
3MP0005410_abnormal_fertilization3.64575258
4MP0010030_abnormal_orbit_morphology3.50843110
5MP0003646_muscle_fatigue3.31875723
6MP0000678_abnormal_parathyroid_gland3.24432632
7MP0002234_abnormal_pharynx_morphology3.19601594
8MP0003011_delayed_dark_adaptation2.83531597
9MP0003693_abnormal_embryo_hatching2.80697718
10MP0000049_abnormal_middle_ear2.65038023
11MP0003806_abnormal_nucleotide_metabolis2.54644707
12MP0002163_abnormal_gland_morphology2.41461919
13MP0002160_abnormal_reproductive_system2.34785990
14MP0001873_stomach_inflammation2.18523581
15MP0002249_abnormal_larynx_morphology2.15813117
16MP0005423_abnormal_somatic_nervous2.12179913
17MP0009333_abnormal_splenocyte_physiolog1.85517154
18MP0005379_endocrine/exocrine_gland_phen1.79306469
19MP0002932_abnormal_joint_morphology1.70477106
20MP0000467_abnormal_esophagus_morphology1.66574294
21MP0006292_abnormal_olfactory_placode1.66272736
22MP0008932_abnormal_embryonic_tissue1.64132117
23MP0003786_premature_aging1.56885779
24MP0008058_abnormal_DNA_repair1.55915432
25MP0005389_reproductive_system_phenotype1.53562689
26MP0002132_abnormal_respiratory_system1.52754002
27MP0003698_abnormal_male_reproductive1.50450967
28MP0002127_abnormal_cardiovascular_syste1.48927060
29MP0001919_abnormal_reproductive_system1.48067597
30MP0002277_abnormal_respiratory_mucosa1.47701579
31MP0005464_abnormal_platelet_physiology1.44804650
32MP0001542_abnormal_bone_strength1.44797884
33MP0003283_abnormal_digestive_organ1.44456454
34MP0004957_abnormal_blastocyst_morpholog1.44285841
35MP0000762_abnormal_tongue_morphology1.43834793
36MP0008789_abnormal_olfactory_epithelium1.38358342
37MP0002282_abnormal_trachea_morphology1.28780819
38MP0003111_abnormal_nucleus_morphology1.24890855
39MP0005499_abnormal_olfactory_system1.24848279
40MP0005394_taste/olfaction_phenotype1.24848279
41MP0001929_abnormal_gametogenesis1.24244122
42MP0003880_abnormal_central_pattern1.23335852
43MP0003718_maternal_effect1.21136951
44MP0009384_cardiac_valve_regurgitation1.19905947
45MP0003077_abnormal_cell_cycle1.17010591
46MP0009250_abnormal_appendicular_skeleto1.13572418
47MP0002210_abnormal_sex_determination1.13111588
48MP0009053_abnormal_anal_canal1.12424790
49MP0003937_abnormal_limbs/digits/tail_de1.09815423
50MP0005645_abnormal_hypothalamus_physiol1.09302824
51MP0008995_early_reproductive_senescence1.08412944
52MP0003315_abnormal_perineum_morphology1.06337769
53MP0001348_abnormal_lacrimal_gland1.05729670
54MP0002735_abnormal_chemical_nociception1.03360837
55MP0001145_abnormal_male_reproductive1.02988635
56MP0002177_abnormal_outer_ear1.01583559
57MP0005084_abnormal_gallbladder_morpholo0.99423603
58MP0000470_abnormal_stomach_morphology0.97088416
59MP0003279_aneurysm0.95412104
60MP0000733_abnormal_muscle_development0.94941941
61MP0001849_ear_inflammation0.89782242
62MP0003878_abnormal_ear_physiology0.89623788
63MP0005377_hearing/vestibular/ear_phenot0.89623788
64MP0002736_abnormal_nociception_after0.88339330
65MP0001666_abnormal_nutrient_absorption0.88307458
66MP0005174_abnormal_tail_pigmentation0.88145752
67MP0000653_abnormal_sex_gland0.87985826
68MP0002161_abnormal_fertility/fecundity0.87818931
69MP0005409_darkened_coat_color0.86223321
70MP0001293_anophthalmia0.86131663
71MP0010094_abnormal_chromosome_stability0.83709031
72MP0005508_abnormal_skeleton_morphology0.83577510
73MP0003567_abnormal_fetal_cardiomyocyte0.83522712
74MP0002933_joint_inflammation0.79996830
75MP0003938_abnormal_ear_development0.78571507
76MP0003186_abnormal_redox_activity0.78246793
77MP0004185_abnormal_adipocyte_glucose0.78199307
78MP0000767_abnormal_smooth_muscle0.77514888
79MP0000703_abnormal_thymus_morphology0.75204600
80MP0005083_abnormal_biliary_tract0.74660405
81MP0003448_altered_tumor_morphology0.71659994
82MP0001986_abnormal_taste_sensitivity0.71336892
83MP0000163_abnormal_cartilage_morphology0.70723059
84MP0000858_altered_metastatic_potential0.69958496
85MP0001286_abnormal_eye_development0.69683246
86MP0002184_abnormal_innervation0.67492095
87MP0002722_abnormal_immune_system0.66327791
88MP0004133_heterotaxia0.66135234
89MP0008004_abnormal_stomach_pH0.65810775
90MP0001905_abnormal_dopamine_level0.65709134
91MP0001243_abnormal_dermal_layer0.64731343
92MP0006072_abnormal_retinal_apoptosis0.63216294
93MP0004036_abnormal_muscle_relaxation0.61788424
94MP0002095_abnormal_skin_pigmentation0.61349479
95MP0001340_abnormal_eyelid_morphology0.60760627
96MP0003137_abnormal_impulse_conducting0.58991643
97MP0008872_abnormal_physiological_respon0.58743975
98MP0005551_abnormal_eye_electrophysiolog0.58628999
99MP0002751_abnormal_autonomic_nervous0.57860134
100MP0001697_abnormal_embryo_size0.57473810

Predicted human phenotypes

RankGene SetZ-score
1Anomalous pulmonary venous return (HP:0010772)4.96229764
2Rib fusion (HP:0000902)4.93117110
3Congenital malformation of the right heart (HP:0011723)4.71520305
4Double outlet right ventricle (HP:0001719)4.71520305
5Aplastic anemia (HP:0001915)4.54530987
6Abnormality of the pulmonary veins (HP:0011718)4.37728249
7Renal Fanconi syndrome (HP:0001994)3.92407072
8Confusion (HP:0001289)3.85887669
9Increased hepatocellular lipid droplets (HP:0006565)3.76491957
10Elevated erythrocyte sedimentation rate (HP:0003565)3.59460230
11Lipid accumulation in hepatocytes (HP:0006561)3.37145407
12Oral leukoplakia (HP:0002745)3.29083064
13Mitochondrial inheritance (HP:0001427)3.26709898
14Unilateral renal agenesis (HP:0000122)3.22950530
15Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.22413769
16Abnormal mitochondria in muscle tissue (HP:0008316)3.06731593
17Cutaneous melanoma (HP:0012056)3.00266413
18Aplasia/Hypoplasia of the sacrum (HP:0008517)2.99787354
19Increased intramyocellular lipid droplets (HP:0012240)2.98428730
20Acute necrotizing encephalopathy (HP:0006965)2.97680541
21Hypoplastic heart (HP:0001961)2.91084466
22Colon cancer (HP:0003003)2.88089066
23Pulmonary artery stenosis (HP:0004415)2.73670148
24Abnormal number of erythroid precursors (HP:0012131)2.73317533
25Respiratory distress (HP:0002098)2.70006801
26Abnormality of urine glucose concentration (HP:0011016)2.69232238
27Glycosuria (HP:0003076)2.69232238
28Hypoplasia of the uterus (HP:0000013)2.64442292
29Truncus arteriosus (HP:0001660)2.62716119
30Increased CSF lactate (HP:0002490)2.59525622
31Type I transferrin isoform profile (HP:0003642)2.56587302
32Abnormality of cells of the erythroid lineage (HP:0012130)2.51652020
33Progressive macrocephaly (HP:0004481)2.51641508
34Sclerocornea (HP:0000647)2.51341990
35Polyphagia (HP:0002591)2.47505443
36Hypoplastic left heart (HP:0004383)2.47105024
37Exertional dyspnea (HP:0002875)2.46848679
38Increased muscle lipid content (HP:0009058)2.45121318
39Abnormality of renal resorption (HP:0011038)2.43047170
40Acute encephalopathy (HP:0006846)2.40747993
41Abnormal ventriculo-arterial connection (HP:0011563)2.39761205
42Transposition of the great arteries (HP:0001669)2.39761205
43Abnormal connection of the cardiac segments (HP:0011545)2.39761205
44Aplasia/Hypoplasia of the earlobes (HP:0009906)2.34902198
45Agitation (HP:0000713)2.33558085
46Preauricular pit (HP:0004467)2.33158708
47Periauricular skin pits (HP:0100277)2.33158708
48Long clavicles (HP:0000890)2.30485955
49Lethargy (HP:0001254)2.26846582
50Lactic acidosis (HP:0003128)2.23303293
513-Methylglutaconic aciduria (HP:0003535)2.21260612
52Redundant skin (HP:0001582)2.20202344
53Neoplasm of the adrenal cortex (HP:0100641)2.18758408
54Occipital encephalocele (HP:0002085)2.17140127
55Abnormal protein glycosylation (HP:0012346)2.16804842
56Abnormal glycosylation (HP:0012345)2.16804842
57Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.16804842
58Abnormal protein N-linked glycosylation (HP:0012347)2.16804842
59Hepatocellular necrosis (HP:0001404)2.10794516
60Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.10361943
61Cerebral hypomyelination (HP:0006808)2.08507686
62Growth hormone deficiency (HP:0000824)2.07442516
63Delusions (HP:0000746)2.04341067
64Fused cervical vertebrae (HP:0002949)2.04318803
65Aplasia/hypoplasia of the uterus (HP:0008684)2.04224848
66Increased serum lactate (HP:0002151)2.03702530
67Polyuria (HP:0000103)2.02571728
68Osteomalacia (HP:0002749)2.01358312
69Abnormality of the preputium (HP:0100587)2.00605567
70Thrombocytosis (HP:0001894)1.97321678
71Severe visual impairment (HP:0001141)1.97201256
72Pancreatic fibrosis (HP:0100732)1.96582201
73Nasal speech (HP:0001611)1.94553071
74Respiratory difficulties (HP:0002880)1.91227251
75Abnormal ciliary motility (HP:0012262)1.88231704
76Methylmalonic aciduria (HP:0012120)1.88085299
77Decreased electroretinogram (ERG) amplitude (HP:0000654)1.85836005
78Down-sloping shoulders (HP:0200021)1.84540525
79Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.82653723
80Decreased activity of mitochondrial respiratory chain (HP:0008972)1.82653723
81Hemiplegia (HP:0002301)1.82106591
82Restlessness (HP:0000711)1.81134812
83Leukodystrophy (HP:0002415)1.80161077
84Stenosis of the external auditory canal (HP:0000402)1.78652264
85Hyperammonemia (HP:0001987)1.78578028
86Abnormality of placental membranes (HP:0011409)1.78013354
87Amniotic constriction ring (HP:0009775)1.78013354
88Exercise intolerance (HP:0003546)1.77219780
89Cerebral edema (HP:0002181)1.76942748
90Hyperphosphaturia (HP:0003109)1.75690717
91Abnormality of the intervertebral disk (HP:0005108)1.75349245
92Absent thumb (HP:0009777)1.73934829
93Symphalangism affecting the phalanges of the hand (HP:0009773)1.73456702
94Popliteal pterygium (HP:0009756)1.70976399
95Abnormality of the aortic arch (HP:0012303)1.69966607
96Abnormal respiratory motile cilium morphology (HP:0005938)1.68823394
97Abnormal respiratory epithelium morphology (HP:0012253)1.68823394
98Abnormality of the fetal cardiovascular system (HP:0010948)1.68495659
99Abnormal umbilical cord blood vessels (HP:0011403)1.68495659
100Single umbilical artery (HP:0001195)1.68495659

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK27.71399779
2TAF15.89722693
3SMG14.57342382
4NUAK13.63930798
5BCKDK2.77408463
6VRK12.66833617
7BLK2.32715671
8STK162.32609393
9ZAK2.30553867
10PLK41.67201122
11MAP3K111.66761267
12IRAK31.51922645
13PRKD31.49885136
14MELK1.45091366
15ARAF1.44273281
16KDR1.38925211
17BUB11.37768855
18DYRK21.34111451
19CSNK1G31.32756753
20STK41.32413804
21BMPR1B1.30663822
22TLK11.29365198
23MAP4K21.26723137
24GRK51.22535494
25CSNK1G11.19830773
26BRAF1.19164843
27TESK11.18620498
28CDC71.17666877
29DAPK11.17532631
30SRPK11.11856740
31MAP2K71.10914989
32PNCK1.09195352
33BRSK11.07652038
34MAPKAPK51.03228270
35CSNK1G21.02788090
36MST40.99908957
37TTK0.97914503
38TRIM280.95266947
39EPHB20.94877267
40CSNK1A1L0.93324361
41CDK70.89815774
42CAMK1G0.88284950
43CHEK20.87631734
44PLK30.86093340
45ZAP700.83167150
46DAPK30.81700183
47AURKA0.81380679
48CDK90.81132756
49NME20.80548926
50GRK60.80113883
51CDK190.79259755
52HIPK20.77013940
53BRSK20.74853315
54STK38L0.72236456
55TNIK0.70817975
56PRKCI0.70687289
57FES0.70637710
58DYRK30.68480387
59MAP4K10.63437809
60ATR0.61637101
61TESK20.61011596
62MAP3K10.59700506
63EIF2AK20.56742331
64CDK80.54646924
65SYK0.52472226
66MAPK110.48799857
67MAP3K90.48067416
68PIK3CG0.47398036
69RPS6KA50.47047764
70PLK10.44336572
71AURKB0.44041753
72MAP2K40.41515290
73MAP3K120.41391474
74PLK20.40068623
75JAK30.39581124
76CCNB10.39066102
77CHEK10.38955528
78TXK0.38560634
79MAP3K40.38500385
80WNK40.35784353
81PIM20.35636145
82PIM10.35211744
83ACVR1B0.34486498
84CSNK2A10.34438935
85CAMKK20.34053117
86IRAK40.32684323
87LRRK20.32647714
88CDK11A0.32623790
89NME10.32363778
90EIF2AK10.32285820
91INSRR0.31118347
92ABL20.30625226
93CDK150.30027919
94CDK180.29552736
95MAP3K80.29295635
96STK110.27968187
97IKBKB0.27620495
98PAK10.27188875
99CSNK2A20.26904510
100CAMK1D0.23588622

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.75246668
2Sulfur relay system_Homo sapiens_hsa041224.27350834
3Oxidative phosphorylation_Homo sapiens_hsa001903.07452909
4Sulfur metabolism_Homo sapiens_hsa009203.06892751
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.01313322
6Homologous recombination_Homo sapiens_hsa034403.00353399
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.96570506
8Proteasome_Homo sapiens_hsa030502.70909888
9DNA replication_Homo sapiens_hsa030302.69909841
10RNA polymerase_Homo sapiens_hsa030202.68409415
11Parkinsons disease_Homo sapiens_hsa050122.56009685
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.55429464
13Fanconi anemia pathway_Homo sapiens_hsa034602.30924637
14Base excision repair_Homo sapiens_hsa034102.12778986
15Basal transcription factors_Homo sapiens_hsa030222.00666746
16Huntingtons disease_Homo sapiens_hsa050161.97349181
17Pyrimidine metabolism_Homo sapiens_hsa002401.88826018
18Cysteine and methionine metabolism_Homo sapiens_hsa002701.88450990
19Spliceosome_Homo sapiens_hsa030401.82615959
20Alzheimers disease_Homo sapiens_hsa050101.77752469
21Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.76204611
22Mismatch repair_Homo sapiens_hsa034301.75802492
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.69088716
24Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.68031715
25Biosynthesis of amino acids_Homo sapiens_hsa012301.63933798
26Arginine biosynthesis_Homo sapiens_hsa002201.61335846
27RNA transport_Homo sapiens_hsa030131.50170023
28Purine metabolism_Homo sapiens_hsa002301.45265208
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.30956631
30Folate biosynthesis_Homo sapiens_hsa007901.20793328
31Nucleotide excision repair_Homo sapiens_hsa034201.18207238
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.15248762
33Notch signaling pathway_Homo sapiens_hsa043301.08259469
34Cell cycle_Homo sapiens_hsa041101.05444850
35Glutathione metabolism_Homo sapiens_hsa004801.05107132
36Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04540675
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99540858
38Cardiac muscle contraction_Homo sapiens_hsa042600.92375758
39Caffeine metabolism_Homo sapiens_hsa002320.92120253
40Oocyte meiosis_Homo sapiens_hsa041140.90054532
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87968768
42p53 signaling pathway_Homo sapiens_hsa041150.86121784
43Vitamin B6 metabolism_Homo sapiens_hsa007500.85475435
44Metabolic pathways_Homo sapiens_hsa011000.83112968
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.79858018
46Melanoma_Homo sapiens_hsa052180.79450816
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.77434741
48Fatty acid elongation_Homo sapiens_hsa000620.76776186
49Basal cell carcinoma_Homo sapiens_hsa052170.74828292
50N-Glycan biosynthesis_Homo sapiens_hsa005100.72716435
51Phototransduction_Homo sapiens_hsa047440.70640777
52Pyruvate metabolism_Homo sapiens_hsa006200.69619572
53Systemic lupus erythematosus_Homo sapiens_hsa053220.67728969
54Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.67460403
55Selenocompound metabolism_Homo sapiens_hsa004500.67340508
56Thyroid cancer_Homo sapiens_hsa052160.65034575
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.64391974
58Steroid biosynthesis_Homo sapiens_hsa001000.64091295
59Fatty acid biosynthesis_Homo sapiens_hsa000610.63866275
60Primary bile acid biosynthesis_Homo sapiens_hsa001200.60895826
61Pentose phosphate pathway_Homo sapiens_hsa000300.57581608
62Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55501280
63Peroxisome_Homo sapiens_hsa041460.54688369
64Hedgehog signaling pathway_Homo sapiens_hsa043400.51391013
65Primary immunodeficiency_Homo sapiens_hsa053400.51316978
66Galactose metabolism_Homo sapiens_hsa000520.50045083
67Fat digestion and absorption_Homo sapiens_hsa049750.47522249
68Olfactory transduction_Homo sapiens_hsa047400.47242161
69Glycerolipid metabolism_Homo sapiens_hsa005610.46871986
70Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.43287407
71Bladder cancer_Homo sapiens_hsa052190.41558969
72Non-small cell lung cancer_Homo sapiens_hsa052230.39992313
73Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37308631
74Carbon metabolism_Homo sapiens_hsa012000.35132275
75Starch and sucrose metabolism_Homo sapiens_hsa005000.34336140
76Pentose and glucuronate interconversions_Homo sapiens_hsa000400.34279049
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.32578731
78Wnt signaling pathway_Homo sapiens_hsa043100.31958651
79One carbon pool by folate_Homo sapiens_hsa006700.28327065
80Propanoate metabolism_Homo sapiens_hsa006400.28140139
81Glioma_Homo sapiens_hsa052140.27447931
82Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.27241710
83RNA degradation_Homo sapiens_hsa030180.26420621
84Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.24236504
85Arginine and proline metabolism_Homo sapiens_hsa003300.23028398
86Pancreatic cancer_Homo sapiens_hsa052120.22181015
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.21376888
88Chemical carcinogenesis_Homo sapiens_hsa052040.19761135
89Regulation of autophagy_Homo sapiens_hsa041400.19560013
90Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.19435285
91Protein export_Homo sapiens_hsa030600.19217600
92Alcoholism_Homo sapiens_hsa050340.18678514
93Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.17194071
94Nitrogen metabolism_Homo sapiens_hsa009100.16944015
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.16833812
96Fatty acid metabolism_Homo sapiens_hsa012120.16359876
97Herpes simplex infection_Homo sapiens_hsa051680.14762591
98Measles_Homo sapiens_hsa051620.14492529
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.14260068
100MAPK signaling pathway_Homo sapiens_hsa040100.13598672

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